Journal of Personalized Medicine

Article

14 pages, 1800 KiB

Open AccessEditor’s ChoiceArticle

MGMT Promoter Methylation: Prognostication beyond Treatment Response

by Keyoumars Ashkan, Asfand Baig Mirza, Christos Soumpasis, Christoforos Syrris, Dimitrios Kalaitzoglou, Chaitanya Sharma, Zachariah Joseph James, Abbas Khizar Khoja, Razna Ahmed, Amisha Vastani, James Bartram, Kazumi Chia, Omar Al-Salihi, Angela Swampilai, Lucy Brazil, Ross Laxton, Zita Reisz, Istvan Bodi, Andrew King, Richard Gullan, Francesco Vergani, Ranjeev Bhangoo, Safa Al-Sarraj and Jose Pedro Lavrador Show full author list Hide full author list

J. Pers. Med. 2023, 13(6), 999; https://doi.org/10.3390/jpm13060999 - 14 Jun 2023

Cited by 8 | Viewed by 3372

Abstract

MGMT promoter methylation is related to the increased sensitivity of tumour tissue to chemotherapy with temozolomide (TMZ) and thus to improved patient survival. However, it is unclear how the extent of MGMT promoter methylation affects outcomes. In our study, a single-centre retrospective study, [...] Read more.

MGMT promoter methylation is related to the increased sensitivity of tumour tissue to chemotherapy with temozolomide (TMZ) and thus to improved patient survival. However, it is unclear how the extent of MGMT promoter methylation affects outcomes. In our study, a single-centre retrospective study, we explore the impact of MGMT promoter methylation in patients with glioblastoma who were operated upon with 5-ALA. Demographic, clinical and histology data, and survival rates were assessed. A total of 69 patients formed the study group (mean age 53.75 ± 15.51 years old). Positive 5-ALA fluorescence was noted in 79.41%. A higher percentage of MGMT promoter methylation was related to lower preoperative tumour volume (p = 0.003), a lower likelihood of 5-ALA positive fluorescence (p = 0.041) and a larger extent of resection EoR (p = 0.041). A higher MGMT promoter methylation rate was also related to improved progression-free survival (PFS) and overall survival (OS) (p = 0.008 and p = 0.006, respectively), even when adjusted for the extent of resection (p = 0.034 and p = 0.042, respectively). A higher number of adjuvant chemotherapy cycles was also related to longer PFS and OS (p = 0.049 and p = 0.030, respectively). Therefore, this study suggests MGMT promoter methylation should be considered as a continuous variable. It is a prognostic factor that goes beyond sensitivity to chemotherapy treatment, as a higher percentage of methylation is related not only to increased EoR and increased PFS and OS, but also to lower tumour volume at presentation and a lower likelihood of 5-ALA fluorescence intraoperatively. Full article

(This article belongs to the Special Issue Precision Medicine in Neurooncology and Neurosurgery for the 21st Century)

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24 pages, 5334 KiB

Open AccessEditor’s ChoiceArticle

Comparison of Interleukin-6 with Other Markers in Diagnosis of Ovarian Cancer

by Magdalena Bizoń, Zofia Awiżeń-Panufnik and Włodzimierz Sawicki

J. Pers. Med. 2023, 13(6), 980; https://doi.org/10.3390/jpm13060980 - 11 Jun 2023

Cited by 5 | Viewed by 1967

Abstract

The lack of specific symptoms in ovarian cancer delays onset of the diagnostic process. Hence, most cases are recognized in late stages of the disease. The aim of this study was to confirm the role of Il-6 compared to other markers in diagnosis [...] Read more.

The lack of specific symptoms in ovarian cancer delays onset of the diagnostic process. Hence, most cases are recognized in late stages of the disease. The aim of this study was to confirm the role of Il-6 compared to other markers in diagnosis and survival in ovarian cancer. The database was collected from 13 January 2021 to 15 February 2023. In total, 101 patients with pelvic tumors with a mean age of 57.86 ± 16.39 participated in the study. In every case, CA125, HE4, CEA, CA19-9, Il-6, C-reactive protein and procalcitonin measurements were taken. Patients with ovarian borderline tumor and metastatic ovarian tumors were excluded from further analysis. Statistically significant correlations were found between diagnosis of ovarian cancer and levels of CA125, HE4, CRP, PCT and Il-6. Comparison of Il-6 with other markers revealed that longer overall survival correlated with lower values of Il-6. In the case of a higher concentration of Il-6, OS and PFS were shorter. Sensitivity and specificity of Il-6 in diagnosis of ovarian cancer were 46.8% and 77.8%, respectively, while for CA125, CRP and PCT were 76.6% and 63%; 68% and 57.5%; 36% and 77%, respectively. More investigations are needed to identify the most specific and sensitive marker for ovarian cancer. Full article

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14 pages, 335 KiB

Open AccessEditor’s ChoiceArticle

Sex- and Gender-Specific Drug Abuse Dynamics: The Need for Tailored Therapeutic Approaches

by Susanna Marinelli, Giuseppe Basile, Roberto Manfredini and Simona Zaami

J. Pers. Med. 2023, 13(6), 965; https://doi.org/10.3390/jpm13060965 - 8 Jun 2023

Cited by 6 | Viewed by 4214

Abstract

Sex and gender have been gaining ever greater attention due to their associated risks, dynamics, patterns and protective factors underlying substance abuse and addiction. Such differentiations and the clarification of complexities thereof take on even greater relevance in light of drug abuse scope [...] Read more.

Sex and gender have been gaining ever greater attention due to their associated risks, dynamics, patterns and protective factors underlying substance abuse and addiction. Such differentiations and the clarification of complexities thereof take on even greater relevance in light of drug abuse scope worldwide. According to the 2022 World Drug Report released by the United Nations Office on Drugs and Crime (UNODC), in 2020 an estimated 284 million people worldwide aged 15–64 had used a drug within the last 12 months. The authors have set out to shed a light on determinants and contributing factors of drug abuse based on sex and gender and outline policy and medicolegal remarks aimed at delineating sex- and gender-based approaches towards drug abuse therapeutic interventions that are both therapeutically and ethically/legally viable and grounded in an evidence-based set of standards. Neurobiological data suggest that estrogen may facilitate drug taking by interacting with reward- and stress-related systems. In animal research, the administration of estrogen increases drug taking and facilitates the acquisition, escalation, and reinstatement of cocaine-seeking behavior. From a medicolegal perspective, it is of utmost importance to take into account the whole picture constituting each patient profile, which certainly includes gender factors and contributors, when outlining a therapeutic approach. Failure to do so could lead to negligence-based malpractice allegations, in light of the scientific findings representing best practices with which clinicians need to comply when caring for SUD patients. Full article

(This article belongs to the Special Issue Personalized Medicine Interdisciplinary Aspects and Sex Gender-Specific Differences)

13 pages, 2279 KiB

Open AccessEditor’s ChoiceArticle

Perception of Pathologists in Poland of Artificial Intelligence and Machine Learning in Medical Diagnosis—A Cross-Sectional Study

by Alhassan Ali Ahmed, Agnieszka Brychcy, Mohamed Abouzid, Martin Witt and Elżbieta Kaczmarek

J. Pers. Med. 2023, 13(6), 962; https://doi.org/10.3390/jpm13060962 - 7 Jun 2023

Cited by 5 | Viewed by 2619

Abstract

Background: In the past vicennium, several artificial intelligence (AI) and machine learning (ML) models have been developed to assist in medical diagnosis, decision making, and design of treatment protocols. The number of active pathologists in Poland is low, prolonging tumor patients’ diagnosis and [...] Read more.

Background: In the past vicennium, several artificial intelligence (AI) and machine learning (ML) models have been developed to assist in medical diagnosis, decision making, and design of treatment protocols. The number of active pathologists in Poland is low, prolonging tumor patients’ diagnosis and treatment journey. Hence, applying AI and ML may aid in this process. Therefore, our study aims to investigate the knowledge of using AI and ML methods in the clinical field in pathologists in Poland. To our knowledge, no similar study has been conducted. Methods: We conducted a cross-sectional study targeting pathologists in Poland from June to July 2022. The questionnaire included self-reported information on AI or ML knowledge, experience, specialization, personal thoughts, and level of agreement with different aspects of AI and ML in medical diagnosis. Data were analyzed using IBM^® SPSS^® Statistics v.26, PQStat Software v.1.8.2.238, and RStudio Build 351. Results: Overall, 68 pathologists in Poland participated in our study. Their average age and years of experience were 38.92 ± 8.88 and 12.78 ± 9.48 years, respectively. Approximately 42% used AI or ML methods, which showed a significant difference in the knowledge gap between those who never used it (OR = 17.9, 95% CI = 3.57–89.79, p < 0.001). Additionally, users of AI had higher odds of reporting satisfaction with the speed of AI in the medical diagnosis process (OR = 4.66, 95% CI = 1.05–20.78, p = 0.043). Finally, significant differences (p = 0.003) were observed in determining the liability for legal issues used by AI and ML methods. Conclusion: Most pathologists in this study did not use AI or ML models, highlighting the importance of increasing awareness and educational programs regarding applying AI and ML in medical diagnosis. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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14 pages, 4701 KiB

Open AccessEditor’s ChoiceArticle

Chronic Venous Disease during Pregnancy Is Related to Inflammation of the Umbilical Cord: Role of Allograft Inflammatory Factor 1 (AIF-1) and Interleukins 10 (IL-10), IL-12 and IL-18

by Lara Sánchez-Trujillo, Oscar Fraile-Martinez, Cielo García-Montero, Luis M. García-Puente, Luis G. Guijarro, Diego De Leon-Oliva, Diego Liviu Boaru, David Gardón-Alburquerque, María del Val Toledo Lobo, Mar Royuela, Ignacio García-Tuñón, Antonio Rios-Parra, Juan A. De León-Luis, Coral Bravo, Melchor Álvarez-Mon, Julia Bujan, Miguel A. Saez, Natalio García-Honduvilla and Miguel A. Ortega

J. Pers. Med. 2023, 13(6), 956; https://doi.org/10.3390/jpm13060956 - 5 Jun 2023

Cited by 5 | Viewed by 2216

Abstract

Chronic venous disease (CVD) is a common condition that affects the veins in the lower limbs, resulting in a variety of symptoms, such as swelling, pain, and varicose veins (VVs). The plenty hormonal, hemodynamic and mechanical changes occurred in pregnancy make women especially [...] Read more.

Chronic venous disease (CVD) is a common condition that affects the veins in the lower limbs, resulting in a variety of symptoms, such as swelling, pain, and varicose veins (VVs). The plenty hormonal, hemodynamic and mechanical changes occurred in pregnancy make women especially vulnerable to suffer from this condition in this period. Previous works have identified that CVD is associated with an increased inflammatory milieu and significant damage in maternofetal tissues, such as the umbilical cord. However, the inflammatory status of this structure in these patients has not been studied yet. Thus, the aim of the present study was to examine gene and protein expression of a set of inflammatory markers—Allograft inflammatory factor 1 (AIF-1), the proinflammatory cytokines interleukin 12A (IL-12A) and IL-18 and the anti-inflammatory product IL-10—in the umbilical cord of women with CVD during pregnancy (N = 62) and healthy pregnant women (HC; N = 52) by the use of real time qPCR and immunohistochemistry (IHC). Our results demonstrate that the umbilical cord tissue from CVD women exhibit an increased expression of AIF-1, IL-12A and IL-18 along with a decrease in IL-10. Therefore, our study suggests an inflammatory status of this structure related to CVD. Further studies should be conducted to evaluate the expression of other inflammatory markers, as well as to analyze the maternofetal impact of these findings. Full article

(This article belongs to the Section Mechanisms of Diseases)

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16 pages, 6824 KiB

Open AccessEditor’s ChoiceArticle

Uterine Artery Embolization for the Treatment of Symptomatic Uterine Fibroids of Different Sizes: A Single Center Experience

by Alberta Cappelli, Cristina Mosconi, Maria Adriana Cocozza, Nicolò Brandi, Laura Bartalena, Francesco Modestino, Maria Cristina Galaverni, Giulio Vara, Alexandro Paccapelo, Gloria Pizzoli, Gioia Villa, Renato Seracchioli and Matteo Renzulli

J. Pers. Med. 2023, 13(6), 906; https://doi.org/10.3390/jpm13060906 - 28 May 2023

Cited by 11 | Viewed by 2968

Abstract

The present study aimed to evaluate the clinical and radiological 1-year outcomes of uterine artery embolization (UAE) performed in a selected population of women with symptomatic myomas and who do not wish to conceive. Between January 2004 and January 2018, a total of [...] Read more.

The present study aimed to evaluate the clinical and radiological 1-year outcomes of uterine artery embolization (UAE) performed in a selected population of women with symptomatic myomas and who do not wish to conceive. Between January 2004 and January 2018, a total of 62 patients with pre-menopausal status and with no wish to conceive in the future underwent UAE for the treatment of symptomatic fibroids. All the patients underwent magnetic resonance imaging (MRI) and/or transvaginal ultrasonography (TV-US) before and after the procedure at 1-year follow-up. Clinical and radiological parameters were recorded, stratifying the population into 3 groups according to the size of the dominant myoma (group 1: <50 mm; group 2: ≥50 and ≤80 mm; group 3: >80 mm). Mean fibroid diameter was significantly reduced (42.6% ± 21.6%) at 1-year follow-up, with excellent improvements in terms of both symptoms and quality of life. No significant difference was observed regarding baseline dimension and the number of myomas. No major complications were reported (2.5%). The present study confirms the safety and efficacy of UAE in the treatment of symptomatic fibroids in pre-menopausal women with no desire to conceive. Full article

(This article belongs to the Special Issue Obstetrics and Gynecology and Women's Health)

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32 pages, 10714 KiB

Open AccessEditor’s ChoiceArticle

Using EfficientNet-B7 (CNN), Variational Auto Encoder (VAE) and Siamese Twins’ Networks to Evaluate Human Exercises as Super Objects in a TSSCI Images

by Yoram Segal, Ofer Hadar and Lenka Lhotska

J. Pers. Med. 2023, 13(5), 874; https://doi.org/10.3390/jpm13050874 - 22 May 2023

Cited by 8 | Viewed by 3586

Abstract

In this article, we introduce a new approach to human movement by defining the movement as a static super object represented by a single two-dimensional image. The described method is applicable in remote healthcare applications, such as physiotherapeutic exercises. It allows researchers to [...] Read more.

In this article, we introduce a new approach to human movement by defining the movement as a static super object represented by a single two-dimensional image. The described method is applicable in remote healthcare applications, such as physiotherapeutic exercises. It allows researchers to label and describe the entire exercise as a standalone object, isolated from the reference video. This approach allows us to perform various tasks, including detecting similar movements in a video, measuring and comparing movements, generating new similar movements, and defining choreography by controlling specific parameters in the human body skeleton. As a result of the presented approach, we can eliminate the need to label images manually, disregard the problem of finding the start and the end of an exercise, overcome synchronization issues between movements, and perform any deep learning network-based operation that processes super objects in images in general. As part of this article, we will demonstrate two application use cases: one illustrates how to verify and score a fitness exercise. In contrast, the other illustrates how to generate similar movements in the human skeleton space by addressing the challenge of supplying sufficient training data for deep learning applications (DL). A variational auto encoder (VAE) simulator and an EfficientNet-B7 classifier architecture embedded within a Siamese twin neural network are presented in this paper in order to demonstrate the two use cases. These use cases demonstrate the versatility of our innovative concept in measuring, categorizing, inferring human behavior, and generating gestures for other researchers. Full article

(This article belongs to the Special Issue Selected Papers from the pHealth 2022 Conference, Oslo, Norway, 8–10 November 2022)

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17 pages, 1629 KiB

Open AccessEditor’s ChoiceArticle

Radiomics in Breast Imaging: Future Development

by Alessandra Panico, Gianluca Gatta, Antonio Salvia, Graziella Di Grezia, Noemi Fico and Vincenzo Cuccurullo

J. Pers. Med. 2023, 13(5), 862; https://doi.org/10.3390/jpm13050862 - 20 May 2023

Cited by 6 | Viewed by 2492

Abstract

Breast cancer is the most common and most commonly diagnosed non-skin cancer in women. There are several risk factors related to habits and heredity, and screening is essential to reduce the incidence of mortality. Thanks to screening and increased awareness among women, most [...] Read more.

Breast cancer is the most common and most commonly diagnosed non-skin cancer in women. There are several risk factors related to habits and heredity, and screening is essential to reduce the incidence of mortality. Thanks to screening and increased awareness among women, most breast cancers are diagnosed at an early stage, increasing the chances of cure and survival. Regular screening is essential. Mammography is currently the gold standard for breast cancer diagnosis. In mammography, we can encounter problems with the sensitivity of the instrument; in fact, in the case of a high density of glands, the ability to detect small masses is reduced. In fact, in some cases, the lesion may not be particularly evident, it may be hidden, and it is possible to incur false negatives as partial details that may escape the radiologist’s eye. The problem is, therefore, substantial, and it makes sense to look for techniques that can increase the quality of diagnosis. In recent years, innovative techniques based on artificial intelligence have been used in this regard, which are able to see where the human eye cannot reach. In this paper, we can see the application of radiomics in mammography. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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13 pages, 672 KiB

Open AccessEditor’s ChoiceArticle

Efficacy and Safety of Axiostat^® Hemostatic Dressing in Aiding Manual Compression Closure of the Femoral Arterial Access Site in Patients Undergoing Endovascular Treatments: A Preliminary Clinical Experience in Two Centers

by Roberto Minici, Raffaele Serra, Claudio Maglia, Giuseppe Guzzardi, Marco Spinetta, Federico Fontana, Massimo Venturini and Domenico Laganà

J. Pers. Med. 2023, 13(5), 812; https://doi.org/10.3390/jpm13050812 - 11 May 2023

Cited by 10 | Viewed by 3319

Abstract

Background: Hemostasis of the femoral arterial access site by manual compression or a vascular closure device is critical to the safe completion of any endovascular procedure. Previous investigations evaluated the hemostatic efficacy at the radial access site of some chitosan-based hemostatic pads. This [...] Read more.

Background: Hemostasis of the femoral arterial access site by manual compression or a vascular closure device is critical to the safe completion of any endovascular procedure. Previous investigations evaluated the hemostatic efficacy at the radial access site of some chitosan-based hemostatic pads. This study aims to assess the efficacy and safety of a new chitosan-based hemostatic dressing, namely Axiostat^®, in aiding manual compression closure of the femoral arterial access site in patients undergoing endovascular treatments. Furthermore, the outcomes were compared with evidence on manual compression alone and vascular closure devices. Methods: This investigation is a two-center retrospective analysis of 120 consecutive patients who had undergone, from July 2022 to February 2023, manual compression closure of the femoral arterial access site aided by the Axiostat^® hemostatic dressing. Endovascular procedures performed with introducer sheaths ranging from 4 Fr to 8 Fr were evaluated. Results: Primary technical success was achieved in 110 (91.7%) patients, with adequate hemostasis obtained in all cases of prolonged manual compression requirements. The mean time-to-hemostasis and time-to-ambulation were 8.9 (±3.9) and 462 (±199) minutes, respectively. Clinical success was achieved in 113 (94.2%) patients, with bleeding-related complications noted in 7 (5.8%) patients. Conclusions: Manual compression aided by the Axiostat^® hemostatic dressing is effective and safe in achieving hemostasis of the femoral arterial access site in patients undergoing endovascular treatment with a 4–8 Fr introducer sheath. Full article

(This article belongs to the Special Issue Vascular Repair and Remodeling in Health and Disease)

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16 pages, 472 KiB

Open AccessEditor’s ChoiceArticle

Association between Periodontitis Extent, Severity, and Progression Rate with Systemic Diseases and Smoking: A Retrospective Study

by Georgios S. Chatzopoulos, Ziou Jiang, Nicholas Marka and Larry F. Wolff

J. Pers. Med. 2023, 13(5), 814; https://doi.org/10.3390/jpm13050814 - 11 May 2023

Cited by 11 | Viewed by 3237

Abstract

Background: The aim of this study was to analyze the relationship between extent, severity (stage), and rate of progression (grade) of periodontitis with systemic diseases as well as smoking using a large database. Methods: Patients’ records identified in the BigMouth Dental Data Repository [...] Read more.

Background: The aim of this study was to analyze the relationship between extent, severity (stage), and rate of progression (grade) of periodontitis with systemic diseases as well as smoking using a large database. Methods: Patients’ records identified in the BigMouth Dental Data Repository with a periodontal diagnosis based on the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions were evaluated. Patients were further categorized based on extent, severity, and rate of progression. Data were extracted from patients’ electronic health records including demographic characteristics, dental procedural codes, and self-reported medical conditions, as well as the number of missing teeth. Results: A total of 2069 complete records were ultimately included in the analysis. Males were more likely to have generalized periodontitis and stage III or IV periodontitis. Older individuals were more likely diagnosed with grade B and stage III or IV periodontitis. Individuals with generalized disease, grade C, and stage IV demonstrated a significantly higher number of missing teeth. Higher numbers of tooth loss reported during supportive periodontal treatment were noted in generalized disease and stage IV periodontitis. Multiple sclerosis and smoking were significantly associated with grade C periodontitis. Conclusions: Within the limitations of this retrospective study that utilized the BigMouth dental data repository, smokers were significantly associated with rapid progression of periodontitis (grade C). Gender, age, number of missing teeth, and number of tooth loss during supportive periodontal treatment were associated with disease characteristics. Full article

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15 pages, 3406 KiB

Open AccessEditor’s ChoiceArticle

Non-Surgical Transversal Dentoalveolar Compensation with Completely Customized Lingual Appliances versus Surgically Assisted Rapid Palatal Expansion in Adults—Tipping or Translation in Posterior Crossbite Correction?

by Jonas Q. Schmid, Elena Gerberding, Ariane Hohoff, Johannes Kleinheinz, Thomas Stamm and Claudius Middelberg

J. Pers. Med. 2023, 13(5), 807; https://doi.org/10.3390/jpm13050807 - 9 May 2023

Cited by 6 | Viewed by 2242

Abstract

The aim of this study was to investigate buccolingual tooth movements (tipping/translation) in surgical and nonsurgical posterior crossbite correction. A total of 43 patients (f/m 19/24; mean age 27.6 ± 9.5 years) treated with surgically assisted rapid palatal expansion (SARPE) and 38 patients [...] Read more.

The aim of this study was to investigate buccolingual tooth movements (tipping/translation) in surgical and nonsurgical posterior crossbite correction. A total of 43 patients (f/m 19/24; mean age 27.6 ± 9.5 years) treated with surgically assisted rapid palatal expansion (SARPE) and 38 patients (f/m 25/13; mean age 30.4 ± 12.9 years) treated with dentoalveolar compensation using completely customized lingual appliances (DC-CCLA) were retrospectively included. Inclination was measured on digital models at canines (C), second premolars (P2), first molars (M1), and second molars (M2) before (T₀) and after (T₁) crossbite correction. There was no statistically significant difference (p > 0.05) in absolute buccolingual inclination change between both groups, except for the upper C (p < 0.05), which were more tipped in the surgical group. Translation, i.e., bodily tooth movements that cannot be explained by pure uncontrolled tipping, could be observed with SARPE in the maxilla and with DC-CCLA in both jaws. Dentoalveolar transversal compensation with completely customized lingual appliances does not cause greater buccolingual tipping compared to SARPE. Full article

(This article belongs to the Special Issue Recent Advances in Dental Practice)

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13 pages, 323 KiB

Open AccessEditor’s ChoiceArticle

Epigenetic Signatures in Hypertension

by Gerardo Alfonso Perez and Victor Delgado Martinez

J. Pers. Med. 2023, 13(5), 787; https://doi.org/10.3390/jpm13050787 - 1 May 2023

Cited by 7 | Viewed by 2203

Abstract

Clear epigenetic signatures were found in hypertensive and pre-hypertensive patients using DNA methylation data and neural networks in a classification algorithm. It is shown how by selecting an appropriate subset of CpGs it is possible to achieve a mean accuracy classification of 86% [...] Read more.

Clear epigenetic signatures were found in hypertensive and pre-hypertensive patients using DNA methylation data and neural networks in a classification algorithm. It is shown how by selecting an appropriate subset of CpGs it is possible to achieve a mean accuracy classification of 86% for distinguishing control and hypertensive (and pre-hypertensive) patients using only 2239 CpGs. Furthermore, it is also possible to obtain a statistically comparable model achieving an 83% mean accuracy using only 22 CpGs. Both of these approaches represent a substantial improvement over using the entire amount of available CpGs, which resulted in the neural network not generating accurate classifications. An optimization approach is followed to select the CpGs to be used as the base for a model distinguishing between hypertensive and pre-hypertensive individuals. It is shown that it is possible to find methylation signatures using machine learning techniques, which can be applied to distinguish between control (healthy) individuals, pre-hypertensive individuals and hypertensive individuals, illustrating an associated epigenetic impact. Identifying epigenetic signatures might lead to more targeted treatments for patients in the future. Full article

(This article belongs to the Special Issue Cardiovascular Disease Risk Stratification in the Era of Machine Learning and Personalized Medicine)

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14 pages, 636 KiB

Open AccessEditor’s ChoiceArticle

Avatar Intervention for Cannabis Use Disorder in Individuals with Severe Mental Disorders: A Pilot Study

by Sabrina Giguère, Stéphane Potvin, Mélissa Beaudoin, Laura Dellazizzo, Charles-Édouard Giguère, Alexandra Furtos, Karine Gilbert, Kingsada Phraxayavong and Alexandre Dumais

J. Pers. Med. 2023, 13(5), 766; https://doi.org/10.3390/jpm13050766 - 29 Apr 2023

Cited by 6 | Viewed by 2977

Abstract

Cannabis use disorder (CUD) is a complex issue, even more so when it is comorbid with a severe mental disorder (SMD). Available interventions are at best slightly effective, and their effects are not maintained over time. Therefore, the integration of virtual reality (VR) [...] Read more.

Cannabis use disorder (CUD) is a complex issue, even more so when it is comorbid with a severe mental disorder (SMD). Available interventions are at best slightly effective, and their effects are not maintained over time. Therefore, the integration of virtual reality (VR) may increase efficacy; however, it has not yet been investigated in the treatment of CUD. A novel approach, avatar intervention for CUD, uses existing therapeutic techniques from other recommended therapies (e.g., cognitive behavioral methods, motivational interviewing) and allows participants to practice them in real-time. During immersive sessions, participants are invited to interact with an avatar representing a significant person related to their drug use. This pilot clinical trial aimed to evaluate the short-term efficacity of avatar intervention for CUD on 19 participants with a dual diagnosis of SMD and CUD. Results showed a significant moderate reduction in the quantity of cannabis use (Cohen’s d = 0.611, p = 0.004), which was confirmed via urinary quantification of cannabis use. Overall, this unique intervention shows promising results. Longer-term results, as well as comparison with classical interventions in a larger sample, are warranted through a future single-blind randomized controlled trial. Full article

(This article belongs to the Section Personalized Therapy and Drug Delivery)

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16 pages, 2362 KiB

Open AccessEditor’s ChoiceArticle

A New Detection Method of Oral and Oropharyngeal Squamous Cell Carcinoma Based on Multivariate Analysis of Surface Enhanced Raman Spectra of Salivary Exosomes

by Cosmin Ioan Faur, Cristian Dinu, Valentin Toma, Anca Jurj, Radu Mărginean, Anca Onaciu, Rareș Călin Roman, Carina Culic, Magdalena Chirilă, Horațiu Rotar, Alexandra Fălămaș, Gabriela Fabiola Știufiuc, Mihaela Hedeșiu, Oana Almășan and Rares Ionuț Știufiuc

J. Pers. Med. 2023, 13(5), 762; https://doi.org/10.3390/jpm13050762 - 28 Apr 2023

Cited by 14 | Viewed by 3048

Abstract

Raman spectroscopy recently proved a tremendous capacity to identify disease-specific markers in various (bio)samples being a non-invasive, rapid, and reliable method for cancer detection. In this study, we first aimed to record vibrational spectra of salivary exosomes isolated from oral and oropharyngeal squamous [...] Read more.

Raman spectroscopy recently proved a tremendous capacity to identify disease-specific markers in various (bio)samples being a non-invasive, rapid, and reliable method for cancer detection. In this study, we first aimed to record vibrational spectra of salivary exosomes isolated from oral and oropharyngeal squamous cell carcinoma patients and healthy controls using surface enhancement Raman spectroscopy (SERS). Then, we assessed this method’s capacity to discriminate between malignant and non-malignant samples by means of principal component–linear discriminant analysis (PC-LDA) and we used area under the receiver operating characteristics with illustration as the area under the curve to measure the power of salivary exosomes SERS spectra analysis to identify cancer presence. The vibrational spectra were collected on a solid plasmonic substrate developed in our group, synthesized using tangential flow filtered and concentrated silver nanoparticles, capable of generating very reproducible spectra for a whole range of bioanalytes. SERS examination identified interesting variations in the vibrational bands assigned to thiocyanate, proteins, and nucleic acids between the saliva of cancer and control groups. Chemometric analysis indicated discrimination sensitivity between the two groups up to 79.3%. The sensitivity is influenced by the spectral interval used for the multivariate analysis, being lower (75.9%) when the full-range spectra were used. Full article

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20 pages, 1875 KiB

Open AccessFeature PaperEditor’s ChoiceArticle

Impact of Hypothermic Oxygenated Machine Perfusion on Hepatocellular Carcinoma Recurrence after Liver Transplantation

by Federica Rigo, Nicola De Stefano, Damiano Patrono, Victor De Donato, Ludovico Campi, Diana Turturica, Teresa Doria, Veronica Sciannameo, Paola Berchialla, Francesco Tandoi and Renato Romagnoli

J. Pers. Med. 2023, 13(5), 703; https://doi.org/10.3390/jpm13050703 - 22 Apr 2023

Cited by 9 | Viewed by 2057

Abstract

Background: Machine perfusion may be able to mitigate ischemia-reperfusion injury (IRI), which increases hepatocellular carcinoma (HCC) recurrence after liver transplantation (LT). This study aimed to investigate the impact of dual-hypothermic oxygenated machine perfusion (D-HOPE) on HCC recurrence in LT. Methods: A single-center retrospective [...] Read more.

Background: Machine perfusion may be able to mitigate ischemia-reperfusion injury (IRI), which increases hepatocellular carcinoma (HCC) recurrence after liver transplantation (LT). This study aimed to investigate the impact of dual-hypothermic oxygenated machine perfusion (D-HOPE) on HCC recurrence in LT. Methods: A single-center retrospective study was conducted from 2016 to 2020. Pre- and postoperative data of HCC patients undergoing LT were analyzed. Recipients of a D-HOPE-treated graft were compared to those of livers preserved using static cold storage (SCS). The primary endpoint was recurrence-free survival (RFS). Results: Of 326 patients, 246 received an SCS-preserved liver and 80 received a D-HOPE-treated graft (donation after brain death (DBD), n = 66; donation after circulatory death (DCD), n = 14). Donors of D-HOPE-treated grafts were older and had higher BMI. All DCD donors were treated by normothermic regional perfusion and D-HOPE. The groups were comparable in terms of HCC features and estimated 5-year RFS according to the Metroticket 2.0 model. D-HOPE did not reduce HCC recurrence (D-HOPE 10%; SCS 8.9%; p = 0.95), which was confirmed using Bayesian model averaging and inverse probability of treatment weighting-adjusted RFS analysis. Postoperative outcomes were comparable between groups, except for lower AST and ALT peak in the D-HOPE group. Conclusions: In this single-center study, D-HOPE did not reduce HCC recurrence but allowed utilizing livers from extended criteria donors with comparable outcomes, improving access to LT for patients suffering from HCC. Full article

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12 pages, 3998 KiB

Open AccessEditor’s ChoiceArticle

Radiation Exposure and Frequency of Dental, Bitewing and Occlusal Radiographs in Children and Adolescents

by Ina Manuela Schüler, Christoph-Ludwig Hennig, Rika Buschek, Rebecca Scherbaum, Collin Jacobs, Marcel Scheithauer and Hans-Joachim Mentzel

J. Pers. Med. 2023, 13(4), 692; https://doi.org/10.3390/jpm13040692 - 20 Apr 2023

Cited by 9 | Viewed by 7071

Abstract

Dental radiographs are valuable diagnostic aids for oral healthcare, but exposure to ionizing radiation carries health risks, especially in children due to their high radio-sensitivity. Valid reference values for intraoral radiographs in children and adolescents are still missing. This study aimed to investigate [...] Read more.

Dental radiographs are valuable diagnostic aids for oral healthcare, but exposure to ionizing radiation carries health risks, especially in children due to their high radio-sensitivity. Valid reference values for intraoral radiographs in children and adolescents are still missing. This study aimed to investigate the radiation dose values and underlying justifications of dental, bitewing and occlusal X-rays in children and adolescents. Data from routinely executed intraoral radiographs between 2002 and 2020 with conventional and digital tube-heads were extracted from the Radiology Information System. The effective exposure was calculated from technical parameters and statistical tests performed. A total number of 4455 intraoral (3128 dental, 903 bitewing and 424 occlusal) radiographs were investigated. For dental and bitewing radiographs, the dose area product (DAP) was 2.57 cGy × cm² and the effective dose (ED) 0.77 µSv. For occlusal radiographs, the DAP was 7.43 cGy × cm² and the ED 2.22 µSv. Overall, 70.2% of all intraoral radiographs were dental, 20.3% bitewing and 9.5% occlusal radiographs. The most frequent indication for intraoral radiographs was trauma (28.7%), followed by caries (22.7%) and apical diagnostics (22.7%). Moreover, 59.7% of all intraoral radiographs were taken in boys, especially for trauma (66.5%) and endodontics (67.2%) (p ≤ 0.00). Girls were significantly more frequently X-rayed for caries diagnostics than boys (28.1% vs. 19.1%, p ≤ 0.00). The average ED of 0.77 µSv for intraoral dental and bitewing radiographs in this study was within the range of other reported values. The technical parameters of the X-ray devices were found at the lowest recommended levels to best limit the radiation exposure and to assure acceptable diagnostic efficacy. Intraoral radiographs were performed predominantly for trauma, caries and apical diagnostics—reflecting general recommendations for the use of X-rays in children. For improved quality assurance and radiation protection, further studies are necessary to determine the meaningful dose reference level (DRL) for children. Full article

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15 pages, 3672 KiB

Open AccessEditor’s ChoiceArticle

Needs and Demands for eHealth Pain Management Interventions in Chronic Pain Patients

by Paula Stoppok, Anna-Lena Frewer, Adam Schweda, Sheila Geiger, Eva-Maria Skoda, Diana Müßgens, Ulrike Bingel, Martin Teufel and Alexander Bäuerle

J. Pers. Med. 2023, 13(4), 675; https://doi.org/10.3390/jpm13040675 - 17 Apr 2023

Cited by 8 | Viewed by 2418

Abstract

Although chronic pain is a global health problem, the current care situation is often inadequate. eHealth offers many advantages as an additional option for treating chronic pain. Yet, an intervention’s efficacy can only be fully exhausted if patients intend to use it. This [...] Read more.

Although chronic pain is a global health problem, the current care situation is often inadequate. eHealth offers many advantages as an additional option for treating chronic pain. Yet, an intervention’s efficacy can only be fully exhausted if patients intend to use it. This study aims to identify the needs and demands of patients with chronic pain regarding intervention concepts and frameworks to develop specifically tailored eHealth pain management interventions. A cross-sectional study was conducted, including 338 individuals with chronic pain. Within the cohort, a distinction between a high- and a low-burden group was made. Respondents generally preferred a permanently accompanying mobile app, but the preferred content varied with group. According to the majority, interventions should be made available on smartphones, offer sessions once per week with a duration from 10 to 30 min, and be recommended by experts. These results can provide the basis for future eHealth pain management interventions tailored to the patients’ needs and demands. Full article

(This article belongs to the Special Issue Personalized Therapy and Clinical Outcomes for Chronic Pain)

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16 pages, 2896 KiB

Open AccessEditor’s ChoiceArticle

Efficacy and Safety of Distal Radial Access for Transcatheter Arterial Chemoembolization (TACE) of the Liver

by Roberto Minici, Raffaele Serra, Marco Giurdanella, Marisa Talarico, Maria Anna Siciliano, Gianpaolo Carrafiello and Domenico Laganà

J. Pers. Med. 2023, 13(4), 640; https://doi.org/10.3390/jpm13040640 - 7 Apr 2023

Cited by 19 | Viewed by 4164

Abstract

Background: The distal radial artery has emerged as an alternative vascular-access site to conventional transfemoral and transradial approaches. The main advantage over the conventional transradial route is the reduced risk of radial artery occlusion, especially in those patients who, for various clinical reasons, [...] Read more.

Background: The distal radial artery has emerged as an alternative vascular-access site to conventional transfemoral and transradial approaches. The main advantage over the conventional transradial route is the reduced risk of radial artery occlusion, especially in those patients who, for various clinical reasons, have to undergo repeated endovascular procedures. This study aims to assess the efficacy and safety of distal radial access for transcatheter arterial chemoembolization of the liver. Methods: This investigation is a single-center retrospective analysis of 42 consecutive patients who had undergone, from January 2018 to December 2022, transcatheter arterial chemoembolization of the liver with distal radial access for intermediate-stage hepatocellular carcinoma. Outcome data were compared with a retrospectively constituted control group of 40 patients undergoing drug-eluting beads-transcatheter arterial chemoembolization with femoral access. Results: Technical success was achieved in all cases, with a 2.4% conversion rate for distal radial access. A superselective chemoembolization was performed in 35 (83.3%) cases of distal radial access. No episode of radial artery spasm or radial artery occlusion occurred. No significant differences in efficacy and safety were observed between the distal radial access group and the femoral access group. Conclusions: Distal radial access is effective, safe, and comparable to femoral access in patients undergoing transcatheter arterial chemoembolization of the liver. Full article

(This article belongs to the Special Issue Vascular Repair and Remodeling in Health and Disease)

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11 pages, 1240 KiB

Open AccessEditor’s ChoiceArticle

Prognostic Value of Malondialdehyde (MDA) in the Temporal Progression of Chronic Spinal Cord Injury

by Sergio Haro Girón, Jorge Monserrat Sanz, Miguel A. Ortega, Cielo Garcia-Montero, Oscar Fraile-Martínez, Ana M. Gómez-Lahoz, Diego Liviu Boaru, Diego de Leon-Oliva, Luis G. Guijarro, Mar Atienza-Perez, David Diaz, Elisa Lopez-Dolado and Melchor Álvarez-Mon

J. Pers. Med. 2023, 13(4), 626; https://doi.org/10.3390/jpm13040626 - 2 Apr 2023

Cited by 22 | Viewed by 3414

Abstract

Background: Oxidative stress is a major signature of spinal cord injury (SCI). The altered levels of various oxidative stress markers have been demonstrated in acute and chronic SCI. However, the variation of these markers in patients with chronic SCI depending on the time [...] Read more.

Background: Oxidative stress is a major signature of spinal cord injury (SCI). The altered levels of various oxidative stress markers have been demonstrated in acute and chronic SCI. However, the variation of these markers in patients with chronic SCI depending on the time since the initial injury has not been explored yet. Objective: Our aim was to measure plasma levels of malondialdehyde (MDA), a marker of lipid peroxidation in patients with SCI stratified in different periods of suffering the injury (0–5 years, 5–10 years, and more than 10 years). Patients and methods: This cross-sectional study enrolled patients with SCI (N = 105) from different periods of the lesion and healthy control (HC) subjects (N = 38): short period (SCI SP, N = 31, time of evolution less than 5 years); early chronic (SCI ECP, N = 32, time of evolution 5–15 years); and late chronic (SCI LCP, N = 42, time of evolution more than 15 years). The plasma levels of MDA were measured using a commercially available colorimetric assay. Results: Patients with SCI had significantly higher plasma levels of MDA than HC subjects. Receiver operating characteristic (ROC) curve analysis for plasma MDA levels in patients with SCI demonstrated areas under the curve (AUC) of 1 (HC vs. SCI-SP); 0.998 (HC vs. SCI-ECP); and 0.964 (HC vs. SCI-LCP). Additionally, three ROC curves were used to compare the different concentrations of MDA between the subgroups of patients with SCI, and the resulting AUCs were: 0.896 (SCI-SP vs. SCI-ECP); 0.840 (SCI-ECP vs. SCI-LCP); and 0.979 (SCI-SP vs. SCI-LCP). Conclusion: Plasma concentration of MDA can be considered as an oxidative stress biomarker to assess the prognosis of SCI in chronic stages. Full article

(This article belongs to the Section Mechanisms of Diseases)

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12 pages, 7068 KiB

Open AccessEditor’s ChoiceArticle

Breast Density Evaluation According to BI-RADS 5th Edition on Digital Breast Tomosynthesis: AI Automated Assessment Versus Human Visual Assessment

by Daniele Ugo Tari, Rosalinda Santonastaso, Davide Raffaele De Lucia, Marika Santarsiere and Fabio Pinto

J. Pers. Med. 2023, 13(4), 609; https://doi.org/10.3390/jpm13040609 - 30 Mar 2023

Cited by 11 | Viewed by 4784

Abstract

Background: The assessment of breast density is one of the main goals of radiologists because the masking effect of dense fibroglandular tissue may affect the mammographic identification of lesions. The BI-RADS 5th Edition has revised the mammographic breast density categories, focusing on a [...] Read more.

Background: The assessment of breast density is one of the main goals of radiologists because the masking effect of dense fibroglandular tissue may affect the mammographic identification of lesions. The BI-RADS 5th Edition has revised the mammographic breast density categories, focusing on a qualitative evaluation rather than a quantitative one. Our purpose is to compare the concordance of the automatic classification of breast density with the visual assessment according to the latest available classification. Methods: A sample of 1075 digital breast tomosynthesis images from women aged between 40 and 86 years (58 ± 7.1) was retrospectively analyzed by three independent readers according to the BI-RADS 5th Edition. Automated breast density assessment was performed on digital breast tomosynthesis images with the Quantra software version 2.2.3. Interobserver agreement was assessed with kappa statistics. The distributions of breast density categories were compared and correlated with age. Results: The agreement on breast density categories was substantial to almost perfect between radiologists (κ = 0.63–0.83), moderate to substantial between radiologists and the Quantra software (κ = 0.44–0.78), and the consensus of radiologists and the Quantra software (κ = 0.60–0.77). Comparing the assessment for dense and non-dense breasts, the agreement was almost perfect in the screening age range without a statistically significant difference between concordant and discordant cases when compared by age. Conclusions: The categorization proposed by the Quantra software has shown a good agreement with the radiological evaluations, even though it did not completely reflect the visual assessment. Thus, clinical decisions regarding supplemental screening should be based on the radiologist’s perceived masking effect rather than the data produced exclusively by the Quantra software. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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12 pages, 1677 KiB

Open AccessEditor’s ChoiceArticle

Baseline CTC Count as a Predictor of Long-Term Outcomes in High-Risk Prostate Cancer

by Wojciech A. Cieślikowski, Piotr Milecki, Monika Świerczewska, Agnieszka Ida, Michał Kasperczak, Agnieszka Jankowiak, Michał Nowicki, Klaus Pantel, Catherine Alix-Panabières, Maciej Zabel, Andrzej Antczak and Joanna Budna-Tukan

J. Pers. Med. 2023, 13(4), 608; https://doi.org/10.3390/jpm13040608 - 30 Mar 2023

Cited by 8 | Viewed by 2410

Abstract

The aim of the present study was to verify whether the baseline circulating tumor cell (CTC) count might serve as a predictor of overall survival (OS) and metastasis-free survival (MFS) in patients with high-risk prostate cancer (PCa) during a follow-up period of at [...] Read more.

The aim of the present study was to verify whether the baseline circulating tumor cell (CTC) count might serve as a predictor of overall survival (OS) and metastasis-free survival (MFS) in patients with high-risk prostate cancer (PCa) during a follow-up period of at least 5 years. CTCs were enumerated using three different assay formats in 104 patients: the CellSearch^® system, EPISPOT assay and GILUPI CellCollector. A total of 57 (55%) patients survived until the end of the follow-up period, with a 5 year OS of 66% (95% CI: 56–74%). The analysis of univariate Cox proportional hazard models identified a baseline CTC count ≥ 1, which was determined with the CellSearch^® system, a Gleason sum ≥ 8, cT ≥ 2c and metastases at initial diagnosis as significant predictors of a worse OS in the entire cohort. The CTC count ≥ 1 was also the only significant predictor of a worse OS in a subset of 85 patients who presented with localized PCa at the baseline. The baseline CTC number did not affect the MFS. In conclusion, the baseline CTC count can be considered a determinant of survival in high-risk PCa and also in patients with a localized disease. However, determining the prognostic value of the CTC count in patients with localized PCa would optimally require longitudinal monitoring of this parameter. Full article

(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)

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14 pages, 1864 KiB

Open AccessEditor’s ChoiceArticle

Use, Abuse, and Misuse of Nasal Medications: Real-Life Survey on Community Pharmacist’s Perceptions

by Elena Russo, Francesco Giombi, Giovanni Paoletti, Enrico Heffler, Giorgio Walter Canonica, Francesca Pirola, Giuseppe Mercante, Giuseppe Spriano, Luca Malvezzi, Enrico Keber, SGCP and Corrado Giua

J. Pers. Med. 2023, 13(4), 579; https://doi.org/10.3390/jpm13040579 - 26 Mar 2023

Cited by 6 | Viewed by 4811

Abstract

Background: Medication overuse is an increasing global problem, especially for those rhinology diseases whose management requires over-the-counter drugs. This observational community pharmacy-based study aimed to investigate the actual use of the best-selling topical nasal medications and to characterize the clinical issues underlying their [...] Read more.

Background: Medication overuse is an increasing global problem, especially for those rhinology diseases whose management requires over-the-counter drugs. This observational community pharmacy-based study aimed to investigate the actual use of the best-selling topical nasal medications and to characterize the clinical issues underlying their query through the pharmacist’s perception. Methods: In the pilot phase, a preliminary survey was developed by a team of researchers and tested on a small sample of practitioners to assess usability and intelligibility. Eventual amendments were made according to the feedback obtained, and the final version was submitted to practitioners working in 376 pharmacies evenly distributed over the Italian territory. Results: Two groups of customers (18–30 years old and 60–75 years old) were the ones who most frequently purchased topical decongestants. The dosage applied for sympathomimetic amines was higher than recommended in up to 44.4% and the duration of use longer than 5 days in up to 31.9% of the cases. Patients’ queries of alpha agonists and topical corticosteroids resulted in significantly higher numbers than practitioners’ prescriptions. Allergic rhinitis was the most common disease affecting patients seeking sympathomimetic amines. Conclusions: The prolonged use of sympathomimetic amines in patients suffering from rhinology diseases is a significant problem that requires greater attention in terms of social education and surveillance. Full article

(This article belongs to the Special Issue Recent Advances in Diagnosis, Treatment and Observation in Otorhinolaryngology)

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17 pages, 930 KiB

Open AccessEditor’s ChoiceArticle

A Novel Clinical Nomogram for Predicting Overall Survival in Patients with Emergency Surgery for Colorectal Cancer

by Georgiana Bianca Constantin, Dorel Firescu, Raul Mihailov, Iulian Constantin, Ioana Anca Ștefanopol, Daniel Andrei Iordan, Bogdan Ioan Ștefănescu, Rodica Bîrlă and Eugenia Panaitescu

J. Pers. Med. 2023, 13(4), 575; https://doi.org/10.3390/jpm13040575 - 24 Mar 2023

Cited by 7 | Viewed by 2509

Abstract

Background: Long-term survival after emergency colorectal cancer surgery is low, and its estimation is most frequently neglected, with priority given to the immediate prognosis. This study aimed to propose an effective nomogram to predict overall survival in these patients. Materials and methods: We [...] Read more.

Background: Long-term survival after emergency colorectal cancer surgery is low, and its estimation is most frequently neglected, with priority given to the immediate prognosis. This study aimed to propose an effective nomogram to predict overall survival in these patients. Materials and methods: We retrospectively studied 437 patients who underwent emergency surgery for colorectal cancer between 2008 and 2019, in whom we analyzed the clinical, paraclinical, and surgical parameters. Results: Only 30 patients (6.86%) survived until the end of the study. We identified the risk factors through the univariate Cox regression analysis and a multivariate Cox regression model. The model included the following eight independent prognostic factors: age > 63 years, Charlson score > 4, revised cardiac risk index (RCRI), LMR (lymphocytes/neutrophils ratio), tumor site, macroscopic tumoral invasion, surgery type, and lymph node dissection (p < 0.05 for all), with an AUC (area under the curve) of 0.831, with an ideal agreement between the predicted and observed probabilities. On this basis, we constructed a nomogram for prediction of overall survival. Conclusions: The nomogram created, on the basis of a multivariate logistic regression model, has a good individual prediction of overall survival for patients with emergency surgery for colon cancer and may support clinicians when informing patients about prognosis. Full article

(This article belongs to the Special Issue Personalized Medicine in Acute Care Surgery: Postoperative Complications and Prognosis)

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12 pages, 1814 KiB

Open AccessEditor’s ChoiceArticle

Generative Adversarial Networks Can Create High Quality Artificial Prostate Cancer Magnetic Resonance Images

by Isaac R. L. Xu, Derek J. Van Booven, Sankalp Goberdhan, Adrian Breto, Joao Porto, Mohammad Alhusseini, Ahmad Algohary, Radka Stoyanova, Sanoj Punnen, Anton Mahne and Himanshu Arora

J. Pers. Med. 2023, 13(3), 547; https://doi.org/10.3390/jpm13030547 - 18 Mar 2023

Cited by 11 | Viewed by 4538

Abstract

The recent integration of open-source data with machine learning models, especially in the medical field, has opened new doors to studying disease progression and/or regression. However, the ability to use medical data for machine learning approaches is limited by the specificity of data [...] Read more.

The recent integration of open-source data with machine learning models, especially in the medical field, has opened new doors to studying disease progression and/or regression. However, the ability to use medical data for machine learning approaches is limited by the specificity of data for a particular medical condition. In this context, the most recent technologies, like generative adversarial networks (GANs), are being looked upon as a potential way to generate high-quality synthetic data that preserve the clinical variability of a condition. However, despite some success, GAN model usage remains largely minimal when depicting the heterogeneity of a disease such as prostate cancer. Previous studies from our group members have focused on automating the quantitative multi-parametric magnetic resonance imaging (mpMRI) using habitat risk scoring (HRS) maps on the prostate cancer patients in the BLaStM trial. In the current study, we aimed to use the images from the BLaStM trial and other sources to train the GAN models, generate synthetic images, and validate their quality. In this context, we used T2-weighted prostate MRI images as training data for Single Natural Image GANs (SinGANs) to make a generative model. A deep learning semantic segmentation pipeline trained the model to segment the prostate boundary on 2D MRI slices. Synthetic images with a high-level segmentation boundary of the prostate were filtered and used in the quality control assessment by participating scientists with varying degrees of experience (more than ten years, one year, or no experience) to work with MRI images. Results showed that the most experienced participating group correctly identified conventional vs. synthetic images with 67% accuracy, the group with one year of experience correctly identified the images with 58% accuracy, and the group with no prior experience reached 50% accuracy. Nearly half (47%) of the synthetic images were mistakenly evaluated as conventional. Interestingly, in a blinded quality assessment, a board-certified radiologist did not significantly differentiate between conventional and synthetic images in the context of the mean quality of synthetic and conventional images. Furthermore, to validate the usability of the generated synthetic images from prostate cancer MRIs, we subjected these to anomaly detection along with the original images. Importantly, the success rate of anomaly detection for quality control-approved synthetic data in phase one corresponded to that of the conventional images. In sum, this study shows promise that high-quality synthetic images from MRIs can be generated using GANs. Such an AI model may contribute significantly to various clinical applications which involve supervised machine-learning approaches. Full article

(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)

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12 pages, 1871 KiB

Open AccessEditor’s ChoiceArticle

Total Cholesterol Variability and the Risk of Osteoporotic Fractures: A Nationwide Population-Based Cohort Study

by Dongyeop Kim, Jee Hyun Kim and Tae-Jin Song

J. Pers. Med. 2023, 13(3), 509; https://doi.org/10.3390/jpm13030509 - 11 Mar 2023

Cited by 11 | Viewed by 1818

Abstract

Several risk factors for osteoporotic fractures have been identified but reports of the association of lipid parameters with the occurrence of osteoporotic fractures have been limited. We aimed to examine whether serum total cholesterol (TC) variability is associated with osteoporotic fractures. The study [...] Read more.

Several risk factors for osteoporotic fractures have been identified but reports of the association of lipid parameters with the occurrence of osteoporotic fractures have been limited. We aimed to examine whether serum total cholesterol (TC) variability is associated with osteoporotic fractures. The study included 3,00,326 subjects who had undergone three or more health examinations between 2003 and 2008. The primary endpoint was the incidence of osteoporotic fractures, including vertebral, hip, distal radius, and humerus fractures. TC variability was evaluated based on the following three parameters: coefficient of variation (CV), standard deviation (SD), and variability independent of the mean (VIM). A total of 29,044 osteoporotic fracture events (9.67%) were identified during a median of 11.6 years of follow-up. The risk of osteoporotic fractures in the highest quartile was significantly higher compared with the lowest quartile according to the three indices of TC variability with adjusted hazard ratios (HR) and 95% confidence intervals (CI) as follows: CV (HR 1.11, 95% CI [1.08–1.15]), SD (HR 1.07, 95% CI [1.04–1.11]) and VIM (HR 1.07, 95% CI [1.04–1.11]). The Kaplan–Meier curves showed a significantly positive relationship between the higher quartile of TC variability and overall osteoporotic fractures. The association remained significant in subgroup analyses of vertebral and hip fractures, regardless of the indices of TC variability. Our study showed that visit-to-visit TC variability was found to be associated with osteoporotic fracture risk. Maintaining TC levels stable may help attenuate the osteoporotic fracture risk in the future. Full article

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13 pages, 318 KiB

Open AccessEditor’s ChoiceArticle

Identification of Transporter Polymorphisms Influencing Metformin Pharmacokinetics in Healthy Volunteers

by Miriam Saiz-Rodríguez, Dolores Ochoa, Pablo Zubiaur, Marcos Navares-Gómez, Manuel Román, Paola Camargo-Mamani, Sergio Luquero-Bueno, Gonzalo Villapalos-García, Raquel Alcaraz, Gina Mejía-Abril, Estefanía Santos-Mazo and Francisco Abad-Santos

J. Pers. Med. 2023, 13(3), 489; https://doi.org/10.3390/jpm13030489 - 8 Mar 2023

Cited by 10 | Viewed by 3148

Abstract

For patients with type 2 diabetes, metformin is the most often recommended drug. However, there are substantial individual differences in the pharmacological response to metformin. To investigate the effect of transporter polymorphisms on metformin pharmacokinetics in an environment free of confounding variables, we [...] Read more.

For patients with type 2 diabetes, metformin is the most often recommended drug. However, there are substantial individual differences in the pharmacological response to metformin. To investigate the effect of transporter polymorphisms on metformin pharmacokinetics in an environment free of confounding variables, we conducted our study on healthy participants. This is the first investigation to consider demographic characteristics alongside all transporters involved in metformin distribution. Pharmacokinetic parameters of metformin were found to be affected by age, sex, ethnicity, and several polymorphisms. Age and SLC22A4 and SLC47A2 polymorphisms affected the area under the concentration-time curve (AUC). However, after adjusting for dose-to-weight ratio (dW), sex, age, and ethnicity, along with SLC22A3 and SLC22A4, influenced AUC. The maximum concentration was affected by age and SLC22A1, but after adjusting for dW, it was affected by sex, age, ethnicity, ABCG2, and SLC22A4. The time to reach the maximum concentration was influenced by sex, like half-life, which was also affected by SLC22A3. The volume of distribution and clearance was affected by sex, age, ethnicity and SLC22A3. Alternatively, the pharmacokinetics of metformin was unaffected by polymorphisms in ABCB1, SLC2A2, SLC22A2, or SLC47A1. Therefore, our study demonstrates that a multifactorial approach to all patient characteristics is necessary for better individualization. Full article

(This article belongs to the Special Issue Precision Medicine Genomics: Pharmacogenomics)

13 pages, 1731 KiB

Open AccessEditor’s ChoiceArticle

Multi-Modal Stacking Ensemble for the Diagnosis of Cardiovascular Diseases

by Taeyoung Yoon and Daesung Kang

J. Pers. Med. 2023, 13(2), 373; https://doi.org/10.3390/jpm13020373 - 20 Feb 2023

Cited by 33 | Viewed by 4098

Abstract

Background: Cardiovascular diseases (CVDs) are a leading cause of death worldwide. Deep learning methods have been widely used in the field of medical image analysis and have shown promising results in the diagnosis of CVDs. Methods: Experiments were performed on 12-lead electrocardiogram (ECG) [...] Read more.

Background: Cardiovascular diseases (CVDs) are a leading cause of death worldwide. Deep learning methods have been widely used in the field of medical image analysis and have shown promising results in the diagnosis of CVDs. Methods: Experiments were performed on 12-lead electrocardiogram (ECG) databases collected by Chapman University and Shaoxing People’s Hospital. The ECG signal of each lead was converted into a scalogram image and an ECG grayscale image and used to fine-tune the pretrained ResNet-50 model of each lead. The ResNet-50 model was used as a base learner for the stacking ensemble method. Logistic regression, support vector machine, random forest, and XGBoost were used as a meta learner by combining the predictions of the base learner. The study introduced a method called multi-modal stacking ensemble, which involves training a meta learner through a stacking ensemble that combines predictions from two modalities: scalogram images and ECG grayscale images. Results: The multi-modal stacking ensemble with a combination of ResNet-50 and logistic regression achieved an AUC of 0.995, an accuracy of 93.97%, a sensitivity of 0.940, a precision of 0.937, and an F1-score of 0.936, which are higher than those of LSTM, BiLSTM, individual base learners, simple averaging ensemble, and single-modal stacking ensemble methods. Conclusion: The proposed multi-modal stacking ensemble approach showed effectiveness for diagnosing CVDs. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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12 pages, 38891 KiB

Open AccessEditor’s ChoiceArticle

Modified Keystone Perforator Island Flap Techniques for Small- to Moderate-Sized Scalp and Forehead Defect Coverage: A Retrospective Observational Study

by Byung-Woo Yoo, Kap-Sung Oh, Junekyu Kim, Hyun-Woo Shin and Kyu-Nam Kim

J. Pers. Med. 2023, 13(2), 329; https://doi.org/10.3390/jpm13020329 - 15 Feb 2023

Cited by 7 | Viewed by 5682

Abstract

We aimed to demonstrate the effective application of keystone perforator island flap (KPIF) in scalp and forehead reconstruction by demonstrating the authors’ experience with modified KPIF reconstruction for small- to moderate-sized scalp and forehead defects. Twelve patients who underwent modified KPIF reconstruction of [...] Read more.

We aimed to demonstrate the effective application of keystone perforator island flap (KPIF) in scalp and forehead reconstruction by demonstrating the authors’ experience with modified KPIF reconstruction for small- to moderate-sized scalp and forehead defects. Twelve patients who underwent modified KPIF reconstruction of the scalp and forehead from September 2020 to July 2022 were enrolled in this study. In addition, we retrospectively reviewed and evaluated the patient’s medical records and clinical photographs. All defects (size range, 2 cm × 2 cm to 3 cm × 7 cm) were successfully covered using four modified KPIF techniques (hemi-KPIF, Sydney Melanoma Unit Modification KPIF, omega variation closure KPIF, and modified type II KPIF) with ancillary procedures (additional skin grafts and local flaps). All flaps (size range, 3.5 cm × 4 cm to 7 cm × 16 cm) fully survived, and only one patient developed marginal maceration that healed with conservative management. Furthermore, through the final scar evaluation with the patient satisfaction survey and Harris 4-stage scale, all patients were satisfied with their favorable outcomes at the average final follow-up period of 7.66 ± 2.14 months. The study showed that the KPIF technique with appropriate modifications is an excellent reconstructive modality for covering scalp and forehead defects. Full article

(This article belongs to the Special Issue Implications for Personalized Plastic, Aesthetic and Reconstructive Surgery)

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14 pages, 1874 KiB

Open AccessEditor’s ChoiceArticle

Recurrence-Free Survival in Early and Locally Advanced Large Cell Neuroendocrine Carcinoma of the Lung after Complete Tumor Resection

by Barbara Altieri, Anna La Salvia, Roberta Modica, Francesca Marciello, Olaf Mercier, Pier Luigi Filosso, Bertrand Richard de Latour, Dario Giuffrida, Severo Campione, Gianluca Guggino, Elie Fadel, Mauro Papotti, Annamaria Colao, Jean-Yves Scoazec, Eric Baudin and Antongiulio Faggiano

J. Pers. Med. 2023, 13(2), 330; https://doi.org/10.3390/jpm13020330 - 15 Feb 2023

Cited by 6 | Viewed by 2301

Abstract

Background: Large Cell Neuroendocrine Carcinoma (LCNEC) is a rare subtype of lung cancer with poor clinical outcomes. Data on recurrence-free survival (RFS) in early and locally advanced pure LCNEC after complete resection (R0) are lacking. This study aims to evaluate clinical outcomes in [...] Read more.

Background: Large Cell Neuroendocrine Carcinoma (LCNEC) is a rare subtype of lung cancer with poor clinical outcomes. Data on recurrence-free survival (RFS) in early and locally advanced pure LCNEC after complete resection (R0) are lacking. This study aims to evaluate clinical outcomes in this subgroup of patients and to identify potential prognostic markers. Methods: Retrospective multicenter study including patients with pure LCNEC stage I-III and R0 resection. Clinicopathological characteristics, RFS, and disease-specific survival (DSS) were evaluated. Univariate and multivariate analyses were performed. Results: 39 patients (M:F = 26:13), with a median age of 64 years (44–83), were included. Lobectomy (69.2%), bilobectomy (5.1%), pneumonectomy (18%), and wedge resection (7.7%) were performed mostly associated with lymphadenectomy. Adjuvant therapy included platinum-based chemotherapy and/or radiotherapy in 58.9% of cases. After a median follow-up of 44 (4–169) months, the median RFS was 39 months with 1-, 2- and 5-year RFS rates of 60.0%, 54.6%, and 44.9%, respectively. Median DSS was 72 months with a 1-, 2- and 5-year rate of 86.8, 75.9, and 57.4%, respectively. At multivariate analysis, age (cut-off 65 years old) and pN status were independent prognostic factors for both RFS (HR = 4.19, 95%CI = 1.46–12.07, p = 0.008 and HR = 13.56, 95%CI 2.45–74.89, p = 0.003, respectively) and DSS (HR = 9.30, 95%CI 2.23–38.83, p = 0.002 and HR = 11.88, 95%CI 2.28–61.84, p = 0.003, respectively). Conclusion: After R0 resection of LCNEC, half of the patients recurred mostly within the first two years of follow-up. Age and lymph node metastasis could help to stratify patients for adjuvant therapy. Full article

(This article belongs to the Special Issue Innovative Approaches in Lung Cancer Treatment)

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15 pages, 326 KiB

Open AccessEditor’s ChoiceArticle

Metals and Trace Elements in Calcified Valves in Patients with Acquired Severe Aortic Valve Stenosis: Is There a Connection with the Degeneration Process?

by Aleš Tomášek, Jan Maňoušek, Jan Kuta, Jiří Hlásenský, Leoš Křen, Martin Šindler, Michal Zelený, Petr Kala and Petr Němec

J. Pers. Med. 2023, 13(2), 320; https://doi.org/10.3390/jpm13020320 - 13 Feb 2023

Cited by 6 | Viewed by 2303

Abstract

Background. Acquired calcified aortic valve stenosis is the most common valve disease in adulthood. In the etiopathogenesis of this complex pathology, the importance of inflammation is mentioned, in which non-infectious influences represented by the biological effects of metal pollutants may participate. The main [...] Read more.

Background. Acquired calcified aortic valve stenosis is the most common valve disease in adulthood. In the etiopathogenesis of this complex pathology, the importance of inflammation is mentioned, in which non-infectious influences represented by the biological effects of metal pollutants may participate. The main goal of the study was to determine the concentration of 21 metals and trace elements—aluminium (Al), barium (Ba), cadmium (Cd), calcium (Ca), chrome (Cr), cobalt (Co), copper (Cu), gold (Au), lead (Pb), magnesium (Mg), mercury (Hg), molybdenum (Mo), nickel (Ni), phosphorus (P), selenium (Se), strontium (Sr), sulfur (S), tin (Sn), titanium (Ti), vanadium (V) and zinc (Zn)—in the tissue of calcified aortic valves and to compare them with the concentrations of the same elements in the tissue of healthy aortic valves in the control group. Material and methods. The study group consisted of 49 patients (25 men, mean age: 74) with acquired, severe, calcified aortic valve stenosis with indicated heart surgery. The control group included 34 deceased (20 men, median age: 53) with no evidence of heart disease. Calcified valves were explanted during cardiac surgery and deep frozen. Similarly, the valves of the control group were removed. All valves were lyophilized and analyzed by inductively coupled plasma mass spectrometry. The concentrations of selected elements were compared by means of standard statistical methods. Results. Calcified aortic valves contained significantly higher (p < 0.05) concentrations of Ba, Ca, Co, Cr, Mg, P, Pb, Se, Sn, Sr and Zn and—in contrast—lower concentrations of Cd, Cu, Mo, S and V than valves of the control group. Significant positive correlations of concentrations between the pairs Ca-P, Cu-S and Se-S and strong negative correlations between the elements Mg-Se, P-S and Ca-S were found in the affected valves. Conclusion. Aortic valve calcification is associated with increased tissue accumulation of the majority of the analyzed elements, including metal pollutants. Some exposure factors may increase their accumulation in the valve tissue. A relationship between exposure to environmental burden and the aortic valve calcification process cannot be ruled out. Advances in histochemical and imaging techniques allowing imaging of metal pollutants directly in valve tissue may represent an important future perspective. Full article

14 pages, 10930 KiB

Open AccessEditor’s ChoiceArticle

First-Hand Experience and Result with New Robot-Assisted Laser LeFort-I Osteotomy in Orthognathic Surgery: A Case Report

by Marcel Ebeling, Mario Scheurer, Andreas Sakkas, Frank Wilde and Alexander Schramm

J. Pers. Med. 2023, 13(2), 287; https://doi.org/10.3390/jpm13020287 - 3 Feb 2023

Cited by 9 | Viewed by 3858

Abstract

Background: We report the world’s first developer-independent experience with robot-assisted laser Le Fort I osteotomy (LLFO) and drill-hole marking in orthognathic surgery. To overcome the geometric limitations of conventional rotating and piezosurgical instruments for performing osteotomies, we used the stand-alone robot-assisted laser system [...] Read more.

Background: We report the world’s first developer-independent experience with robot-assisted laser Le Fort I osteotomy (LLFO) and drill-hole marking in orthognathic surgery. To overcome the geometric limitations of conventional rotating and piezosurgical instruments for performing osteotomies, we used the stand-alone robot-assisted laser system developed by Advanced Osteotomy Tools. The aim here was to evaluate the precision of this novel procedure in comparison to the standard procedure used in our clinic using a computer-aided design/computer-aided manufacturing (CAD/CAM) cutting guide and patient-specific implant. Methods: A linear Le-Fort-I osteotomy was digitally planned and transferred to the robot. The linear portion of the Le-Fort I osteotomy was performed autonomously by the robot under direct visual control. Accuracy was analyzed by superimposing preoperative and postoperative computed tomography images, and verified intraoperatively using prefabricated patient-specific implant. Results: The robot performed the linear osteotomy without any technical or safety issues. There was a maximum difference of 1.5 mm on average between the planned and the performed osteotomy. In the robot-assisted intraoperative drillhole marking of the maxilla, which was performed for the first time worldwide, were no measurable deviations between planning and actual positioning. Conclusion: Robotic-assisted orthognathic surgery could be a useful adjunct to conventional drills, burrs, and piezosurgical instruments for performing osteotomies. However, the time required for the actual osteotomy as well as isolated minor design aspects of the Dynamic Reference Frame (DRF), among other things, still need to be improved. Still further studies for final evaluation of safety and accuracy are also needed. Full article

(This article belongs to the Special Issue Computer Assisted Maxillo-Facial Surgery)

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13 pages, 3040 KiB

Open AccessEditor’s ChoiceArticle

An Individualized Multi-Modal Approach for Detection of Medication “Off” Episodes in Parkinson’s Disease via Wearable Sensors

by Emad Arasteh, Maryam S. Mirian, Wyatt D. Verchere, Pratibha Surathi, Devavrat Nene, Sepideh Allahdadian, Michelle Doo, Kye Won Park, Somdattaa Ray and Martin J. McKeown

J. Pers. Med. 2023, 13(2), 265; https://doi.org/10.3390/jpm13020265 - 31 Jan 2023

Cited by 7 | Viewed by 3248

Abstract

The primary treatment for Parkinson’s disease (PD) is supplementation of levodopa (L-dopa). With disease progression, people may experience motor and non-motor fluctuations, whereby the PD symptoms return before the next dose of medication. Paradoxically, in order to prevent wearing-off, one must take the [...] Read more.

The primary treatment for Parkinson’s disease (PD) is supplementation of levodopa (L-dopa). With disease progression, people may experience motor and non-motor fluctuations, whereby the PD symptoms return before the next dose of medication. Paradoxically, in order to prevent wearing-off, one must take the next dose while still feeling well, as the upcoming off episodes can be unpredictable. Waiting until feeling wearing-off and then taking the next dose of medication is a sub-optimal strategy, as the medication can take up to an hour to be absorbed. Ultimately, early detection of wearing-off before people are consciously aware would be ideal. Towards this goal, we examined whether or not a wearable sensor recording autonomic nervous system (ANS) activity could be used to predict wearing-off in people on L-dopa. We had PD subjects on L-dopa record a diary of their on/off status over 24 hours while wearing a wearable sensor (E4 wristband^®) that recorded ANS dynamics, including electrodermal activity (EDA), heart rate (HR), blood volume pulse (BVP), and skin temperature (TEMP). A joint empirical mode decomposition (EMD) / regression analysis was used to predict wearing-off (WO) time. When we used individually specific models assessed with cross-validation, we obtained > 90% correlation between the original OFF state logged by the patients and the reconstructed signal. However, a pooled model using the same combination of ASR measures across subjects was not statistically significant. This proof-of-principle study suggests that ANS dynamics can be used to assess the on/off phenomenon in people with PD taking L-dopa, but must be individually calibrated. More work is required to determine if individual wearing-off detection can take place before people become consciously aware of it. Full article

(This article belongs to the Special Issue Care Personalization in Parkinson Disease)

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14 pages, 7413 KiB

Open AccessEditor’s ChoiceArticle

Functional Alignment Philosophy in Total Knee Arthroplasty—Rationale and Technique for the Valgus Morphotype Using an Image Based Robotic Platform and Individualized Planning

by Jobe Shatrov, Constant Foissey, Moussa Kafelov, Cécile Batailler, Stanislas Gunst, Elvire Servien and Sébastien Lustig

J. Pers. Med. 2023, 13(2), 212; https://doi.org/10.3390/jpm13020212 - 26 Jan 2023

Cited by 25 | Viewed by 7498

Abstract

Functional alignment (FA) is a novel philosophy to deliver a total knee arthroplasty (TKA) that respects individual bony and soft tissue phenotypes within defined limitations. The purpose of this paper is to describe the rationale and technique of FA in the valgus morphotype [...] Read more.

Functional alignment (FA) is a novel philosophy to deliver a total knee arthroplasty (TKA) that respects individual bony and soft tissue phenotypes within defined limitations. The purpose of this paper is to describe the rationale and technique of FA in the valgus morphotype with the use of an image-based robotic-platform. For the valgus phenotype the principles are personalized pre-operative planning, reconstitution of native coronal alignment without residual varus or valgus of more than 3°, restoration of dynamic sagittal alignment within 5° of neutral, implant sizing to match anatomy, and achievement of defined soft tissue laxity in extension and flexion through implant manipulation within the defined boundaries. An individualized plan is created from pre-operative imaging. Next, a reproducible and quantifiable assessment of soft tissue laxity is performed in extension and flexion. Implant positioning is then manipulated in all three planes if necessary to achieve target gap measurements and a final limb position within a defined coronal and sagittal range. FA is a novel TKA technique that aims to restore constitutional bony alignment and balance the laxity of the soft tissues by placing and sizing implants in a manner that respects variations in individual anatomy and soft tissues within defined limits. Full article

(This article belongs to the Special Issue Latest Advances in Musculoskeletal (Orthopedic) Surgery)

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14 pages, 289 KiB

Open AccessEditor’s ChoiceArticle

Contribution to the Personalized Management of the Nosocomial Infections: A New Paradigm Regarding the Influence of the Community Microbial Environment on the Incidence of the Healthcare-Associated Infections (HAI) in Emergency Hospital Surgical Departments

by Maria-Cristina Mateescu, Simona Grigorescu, Bogdan Socea, Vlad Bloanca and Ovidiu-Dan Grigorescu

J. Pers. Med. 2023, 13(2), 210; https://doi.org/10.3390/jpm13020210 - 25 Jan 2023

Cited by 13 | Viewed by 2850

Abstract

Background: The management of acute surgical pathology implies not only the diagnosis–treatment sequence but also an important preventive component. In the surgical hospital department, wound infection is one of the most frequent complications which must be managed both in a preventive and a [...] Read more.

Background: The management of acute surgical pathology implies not only the diagnosis–treatment sequence but also an important preventive component. In the surgical hospital department, wound infection is one of the most frequent complications which must be managed both in a preventive and a personalized manner. To achieve this goal, several factors of negative local evolution, contributing to the slowdown of the healing processes, such as the colonization and contamination of the wounds, need to be emphasized and controlled from the first moment. In this context, knowing the bacteriological status at admission ensures the distinction between the colonization and infection processes and could help to manage in an efficient way the fight against bacterial pathogen infections from the beginning. Methods: A prospective study was performed for 21 months on 973 patients hospitalized as emergencies in the Plastic and Reconstructive Surgery Department within the Emergency University County Hospital of Brasov, Romania. We analyzed the bacteriological profile of the patients from admission to discharge and the bidirectional and cyclic microorganism dynamics both in the hospital and the community microbial environment. Results: Of the 973 samples collected at admission, 702 were positive, with 17 bacterial species and one fungal, with a predominance of Gram-positive cocci at 74,85%. The most frequently isolated strains were Staphylococcus species (86.51% of the Gram-positive/64.7% of the total isolated strains), while Klebsiella at 8.16% and Pseudomonas aeruginosa species at 5.63% were mainly emphasized in the case of Gram-negative bacilli. Two to seven pathogens were introduced after admission, suggesting that the community microbial environment is in a process of evolution and enrichment with hospital pathogens. Conclusions: The high level of positive bacteriological samples and the complex associations of the pathogens found at the admission bacteriological screening sustain the new idea that the pathogenic microorganisms existing in the community microbial environment have started to increasingly influence the hospital microbial environment, in contrast with the previous consideration, which emphasized only the unidirectional relationship between hospital infections and the changing bacteriological characteristics of the community environment. This modified paradigm must become the basis of a new personalized approach to the management of nosocomial infections. Full article

12 pages, 1093 KiB

Open AccessEditor’s ChoiceArticle

Plasma Interleukin-6 Level Predicts the Risk of Arteriovenous Fistula Dysfunction in Patients Undergoing Maintenance Hemodialysis

by Jihyun Baek, Hyeyeon Lee, Taeyoung Yang, So-Young Lee, Yang Gyun Kim, Jin Sug Kim, ShinYoung Ahn, Kipyo Kim, Seok Hui Kang, Min-Jeong Lee, Dong-Young Lee, Hye Yun Jeong and Yu Ho Lee

J. Pers. Med. 2023, 13(1), 151; https://doi.org/10.3390/jpm13010151 - 12 Jan 2023

Cited by 8 | Viewed by 2523

Abstract

Systemic inflammation has been proposed as a relevant factor of vascular remodeling and dysfunction. We aimed to identify circulating inflammatory biomarkers that could predict future arteriovenous fistula (AVF) dysfunction in patients undergoing hemodialysis. A total of 282 hemodialysis patients were enrolled in this [...] Read more.

Systemic inflammation has been proposed as a relevant factor of vascular remodeling and dysfunction. We aimed to identify circulating inflammatory biomarkers that could predict future arteriovenous fistula (AVF) dysfunction in patients undergoing hemodialysis. A total of 282 hemodialysis patients were enrolled in this prospective multicenter cohort study. Plasma cytokine levels were measured at the time of data collection. The primary outcome was the occurrence of AVF stenosis and/or thrombosis requiring percutaneous transluminal angioplasty or surgery within the first year of enrollment. AVF dysfunction occurred in 38 (13.5%) patients during the study period. Plasma interleukin-6 (IL-6) levels were significantly higher in patients with AVF dysfunction than those without. Diabetes mellitus, low systolic blood pressure, and statin use were also associated with AVF dysfunction. The cumulative event rate of AVF dysfunction was the highest in IL-6 tertile 3 (p = 0.05), and patients in tertile 3 were independently associated with an increased risk of AVF dysfunction after multivariable adjustments (adjusted hazard ratio = 3.06, p = 0.015). In conclusion, circulating IL-6 levels are positively associated with the occurrence of incident AVF dysfunction in hemodialysis patients. Our data suggest that IL-6 may help clinicians identify those at high risk of impending AVF failure. Full article

(This article belongs to the Special Issue Precision Prevention and Care in Chronic Kidney Disease)

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13 pages, 828 KiB

Open AccessEditor’s ChoiceArticle

The Association between Alexithymia and Social Media Addiction: Exploring the Role of Dysmorphic Symptoms, Symptoms Interference, and Self-Esteem, Controlling for Age and Gender

by Alessio Gori and Eleonora Topino

J. Pers. Med. 2023, 13(1), 152; https://doi.org/10.3390/jpm13010152 - 12 Jan 2023

Cited by 22 | Viewed by 6007

Abstract

Given the popularity of social media and the growing presence of these tools in the daily lives of individuals, research about the elements that can be linked to their problematic use appears to be of great importance. The objective of this study was [...] Read more.

Given the popularity of social media and the growing presence of these tools in the daily lives of individuals, research about the elements that can be linked to their problematic use appears to be of great importance. The objective of this study was to investigate the factors that may contribute to the levels of social media addiction, by focusing on the role of alexithymia, body image concern, and self-esteem, controlled for age and gender. A sample of 437 social media users (32.5% men, 67.5% women; M_age = 33.44 years, SD = 13.284) completed an online survey, including the Bergen Social Media Addiction Scale, Body Image Concern Inventory, Rosenberg Self-Esteem Scale, and Twenty-Item Toronto Alexithymia Scale, together with a demographic questionnaire. Results showed a significant association between alexithymia and social media addiction, with the total mediation of body image concern (and more in detail, body dissatisfaction) and the significant moderation of self-esteem. Gender and age showed significant effects in these relationships. Such findings may offer further insights into the field of clinical research on social media addiction and may provide useful information for effective clinical practice. Full article

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13 pages, 1267 KiB

Open AccessEditor’s ChoiceArticle

Epidemiology and Risk Factors of UTIs in Children—A Single-Center Observation

by Maria Daniel, Hanna Szymanik-Grzelak, Janusz Sierdziński, Edyta Podsiadły, Magdalena Kowalewska-Młot and Małgorzata Pańczyk-Tomaszewska

J. Pers. Med. 2023, 13(1), 138; https://doi.org/10.3390/jpm13010138 - 10 Jan 2023

Cited by 23 | Viewed by 6631

Abstract

Urinary tract infections (UTIs) are one of childhood’s most common bacterial infections. The study aimed to determine the clinical symptoms, laboratory tests, risk factors, and etiology of different UTIs in children admitted to pediatric hospitals for three years. Methods: Patients with positive urine [...] Read more.

Urinary tract infections (UTIs) are one of childhood’s most common bacterial infections. The study aimed to determine the clinical symptoms, laboratory tests, risk factors, and etiology of different UTIs in children admitted to pediatric hospitals for three years. Methods: Patients with positive urine cultures diagnosed with acute pyelonephritis (APN) or cystitis (CYS) were analyzed for clinical symptoms, laboratory tests, risk factors, and etiology, depending on their age and sex. Results: We studied 948 children with UTIs (531 girls and 417 boys), with a median age of 12 (IQR 5–48 months). A total of 789 children had clinical symptoms; the main symptom was fever (63.4% of patients). Specific symptoms of UTIs were presented only in 16.3% of patients. Children with APN had shown significantly more frequent loss of appetite, vomiting, lethargy, seizures, and less frequent dysuria and haematuria than children with CYS. We found significantly higher median WBC, CRP, and leukocyturia in children with APN than with CYS. The risk factors of UTIs were presented in 46.6% of patients, of which 35.6% were children with APN and 61.7% with CYS. The main risk factor was CAKUT, more frequently diagnosed in children with CYS than APN, mainly in children <2 years. The most commonly isolated bacteria were Escherichia coli (74%). There was a higher percentage of urine samples with E. coli in girls than in boys. Other bacteria found were Klebsiella species, Pseudomonas aeruginosa, Proteus mirabilis, and Enterococcus species. Conclusions: Patients with APN were younger and had higher inflammatory markers. Often, fever is the only symptom of UTI in children, and other clinical signs are usually non-specific. The most common UTI etiology is E. coli, regardless of the clinical presentation and risk factors. Full article

(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)

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12 pages, 629 KiB

Open AccessFeature PaperEditor’s ChoiceArticle

Combining Clinical and Genetic Data to Predict Response to Fingolimod Treatment in Relapsing Remitting Multiple Sclerosis Patients: A Precision Medicine Approach

by Laura Ferrè, Ferdinando Clarelli, Beatrice Pignolet, Elisabetta Mascia, Marco Frasca, Silvia Santoro, Melissa Sorosina, Florence Bucciarelli, Lucia Moiola, Vittorio Martinelli, Giancarlo Comi, Roland Liblau, Massimo Filippi, Giorgio Valentini and Federica Esposito

J. Pers. Med. 2023, 13(1), 122; https://doi.org/10.3390/jpm13010122 - 6 Jan 2023

Cited by 8 | Viewed by 2910

Abstract

A personalized approach is strongly advocated for treatment selection in Multiple Sclerosis patients due to the high number of available drugs. Machine learning methods proved to be valuable tools in the context of precision medicine. In the present work, we applied machine learning [...] Read more.

A personalized approach is strongly advocated for treatment selection in Multiple Sclerosis patients due to the high number of available drugs. Machine learning methods proved to be valuable tools in the context of precision medicine. In the present work, we applied machine learning methods to identify a combined clinical and genetic signature of response to fingolimod that could support the prediction of drug response. Two cohorts of fingolimod-treated patients from Italy and France were enrolled and divided into training, validation, and test set. Random forest training and robust feature selection were performed in the first two sets respectively, and the independent test set was used to evaluate model performance. A genetic-only model and a combined clinical–genetic model were obtained. Overall, 381 patients were classified according to the NEDA-3 criterion at 2 years; we identified a genetic model, including 123 SNPs, that was able to predict fingolimod response with an AUROC= 0.65 in the independent test set. When combining clinical data, the model accuracy increased to an AUROC= 0.71. Integrating clinical and genetic data by means of machine learning methods can help in the prediction of response to fingolimod, even though further studies are required to definitely extend this approach to clinical applications Full article

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Review

16 pages, 938 KiB

Open AccessEditor’s ChoiceReview

Three-Dimensional Printing Technology in Drug Design and Development: Feasibility, Challenges, and Potential Applications

by Maria C. Simon, Konstantinos Laios, Ioannis Nikolakakis and Theodore G. Papaioannou

J. Pers. Med. 2024, 14(11), 1080; https://doi.org/10.3390/jpm14111080 - 29 Oct 2024

Cited by 5 | Viewed by 2829

Abstract

Background/Objectives: The present investigation evaluates the impact of 3D-printing technology on the design of pharmaceutical drugs, considering the feasibility issues and problems concerning technological, pharmaceutical, and clinical matters. This paper aims to review how 3D printing can modify the traditional manufacturing of drugs [...] Read more.

Background/Objectives: The present investigation evaluates the impact of 3D-printing technology on the design of pharmaceutical drugs, considering the feasibility issues and problems concerning technological, pharmaceutical, and clinical matters. This paper aims to review how 3D printing can modify the traditional manufacturing of drugs with personalized medicine-therapy outcomes being individualized and optimized, hence improving patients’ compliance. Methods: The historical development of 3D printing from rapid prototyping to advanced pharmaceutical applications is discussed. A comparison is then made between traditional drug manufacturing approaches and the different techniques of 3D printing, including stereolithography, material extrusion, and binder jetting. Feasibility is assessed based on clinical trials and studies evaluating the efficacy, safety, bioavailability, and cost-effectiveness of 3D-printed drugs. Results: Current evidence indicates that material selection, regulatory barriers, and scalability issues are some of the major challenges to be overcome for wider acceptance. Other matters, such as ethical issues concerning patient data privacy, the misuse of 3D-printing technology, and technical complexities related to pharmaceutical 3D printing, are discussed further. Future applications also include bioprinting and in situ printing together with their implications for personalized drug delivery, which will also be discussed. Conclusions: This review stresses that intersectoral collaboration and the updating of regulatory frameworks are a must to overcome the barriers that confront 3D-printing applications in drug development. can could be an opportunity for innovative licensing and manufacturing techniques in pharmaceutical product development that can change the paradigm of personalized medicine through modern printing techniques. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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25 pages, 655 KiB

Open AccessEditor’s ChoiceReview

Systematic Review and Clinical Insights: The Role of the Ketogenic Diet in Managing Glioblastoma in Cancer Neuroscience

by Jose Valerio, Matteo Borro, Elisa Proietti, Livia Pisciotta, Immanuel O. Olarinde, Maria Fernandez Gomez and Andres Mauricio Alvarez Pinzon

J. Pers. Med. 2024, 14(9), 929; https://doi.org/10.3390/jpm14090929 - 31 Aug 2024

Cited by 5 | Viewed by 6129

Abstract

Recent scientific research has shown that the ketogenic diet may have potential benefits in a variety of medical fields, which has led to the diet receiving a substantial amount of attention. Clinical and experimental research on brain tumors has shown that the ketogenic [...] Read more.

Recent scientific research has shown that the ketogenic diet may have potential benefits in a variety of medical fields, which has led to the diet receiving a substantial amount of attention. Clinical and experimental research on brain tumors has shown that the ketogenic diet has a satisfactory safety profile. This safety profile has been established in a variety of applications, including the management of obesity and the treatment of drug-resistant epileptic cases. However, in human studies, the impact of ketogenic therapy on the growth of tumors and the life expectancy of patients has not provided results that are well characterized. Consequently, our purpose is to improve the comprehension of these features by succinctly presenting the developments and conclusions that have been gained from the most recent study that pertains to this non-pharmacological technique. According to the findings of our study, patients with brain tumors who stick to a ketogenic diet are more likely to experience improved survival rates. However, it is required to conduct additional research on humans in order to more accurately define the anti-tumor efficiency of this diet as well as the underlying processes that support the therapeutic effects of this dieting regimen. Full article

(This article belongs to the Special Issue Advancements in Neurosurgical Oncology: Bridging Neurosurgery and Cancer Neuroscience)

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29 pages, 1103 KiB

Open AccessEditor’s ChoiceReview

Integrating Machine Learning with Multi-Omics Technologies in Geroscience: Towards Personalized Medicine

by Nikolaos Theodorakis, Georgios Feretzakis, Lazaros Tzelves, Evgenia Paxinou, Christos Hitas, Georgia Vamvakou, Vassilios S. Verykios and Maria Nikolaou

J. Pers. Med. 2024, 14(9), 931; https://doi.org/10.3390/jpm14090931 - 31 Aug 2024

Cited by 15 | Viewed by 4780

Abstract

Aging is a fundamental biological process characterized by a progressive decline in physiological functions and an increased susceptibility to diseases. Understanding aging at the molecular level is crucial for developing interventions that could delay or reverse its effects. This review explores the integration [...] Read more.

Aging is a fundamental biological process characterized by a progressive decline in physiological functions and an increased susceptibility to diseases. Understanding aging at the molecular level is crucial for developing interventions that could delay or reverse its effects. This review explores the integration of machine learning (ML) with multi-omics technologies—including genomics, transcriptomics, epigenomics, proteomics, and metabolomics—in studying the molecular hallmarks of aging to develop personalized medicine interventions. These hallmarks include genomic instability, telomere attrition, epigenetic alterations, loss of proteostasis, disabled macroautophagy, deregulated nutrient sensing, mitochondrial dysfunction, cellular senescence, stem cell exhaustion, altered intercellular communication, chronic inflammation, and dysbiosis. Using ML to analyze big and complex datasets helps uncover detailed molecular interactions and pathways that play a role in aging. The advances of ML can facilitate the discovery of biomarkers and therapeutic targets, offering insights into personalized anti-aging strategies. With these developments, the future points toward a better understanding of the aging process, aiming ultimately to promote healthy aging and extend life expectancy. Full article

(This article belongs to the Special Issue The Intersection of Multi-Omics Data and Machine Learning in Medicine)

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19 pages, 1888 KiB

Open AccessEditor’s ChoiceReview

Chatbots in Cancer Applications, Advantages and Disadvantages: All that Glitters Is Not Gold

by Georgios Goumas, Theodoros I. Dardavesis, Konstantinos Syrigos, Nikolaos Syrigos and Effie Simou

J. Pers. Med. 2024, 14(8), 877; https://doi.org/10.3390/jpm14080877 - 19 Aug 2024

Cited by 7 | Viewed by 4235

Abstract

The emergence of digitalization and artificial intelligence has had a profound impact on society, especially in the field of medicine. Digital health is now a reality, with an increasing number of people using chatbots for prognostic or diagnostic purposes, therapeutic planning, and monitoring, [...] Read more.

The emergence of digitalization and artificial intelligence has had a profound impact on society, especially in the field of medicine. Digital health is now a reality, with an increasing number of people using chatbots for prognostic or diagnostic purposes, therapeutic planning, and monitoring, as well as for nutritional and mental health support. Initially designed for various purposes, chatbots have demonstrated significant advantages in the medical field, as indicated by multiple sources. However, there are conflicting views in the current literature, with some sources highlighting their drawbacks and limitations, particularly in their use in oncology. This state-of-the-art review article seeks to present both the benefits and the drawbacks of chatbots in the context of medicine and cancer, while also addressing the challenges in their implementation, offering expert insights on the subject. Full article

(This article belongs to the Section Personalized Therapy and Drug Delivery)

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12 pages, 894 KiB

Open AccessEditor’s ChoiceReview

Physician-Modified Endografts for Repair of Complex Abdominal Aortic Aneurysms: Clinical Perspectives and Medico-Legal Profiles

by Giovanna Ricci, Filippo Gibelli, Ascanio Sirignano, Maurizio Taurino and Pasqualino Sirignano

J. Pers. Med. 2024, 14(7), 759; https://doi.org/10.3390/jpm14070759 - 17 Jul 2024

Cited by 4 | Viewed by 2414

Abstract

Standard endovascular aortic repair (EVAR) has become the standard of care for treating infrarenal abdominal aortic aneurysms (AAAs) in patients with favorable anatomies, while patients with challenging AAA anatomies, and those with suprarenal or thoraco-abdominal aneurysms, still need alternative, more complex, solutions, including [...] Read more.

Standard endovascular aortic repair (EVAR) has become the standard of care for treating infrarenal abdominal aortic aneurysms (AAAs) in patients with favorable anatomies, while patients with challenging AAA anatomies, and those with suprarenal or thoraco-abdominal aneurysms, still need alternative, more complex, solutions, including custom-made branched or fenestrated grafts, which are constrained by production delay and costs. To address urgent needs and complex cases, physicians have proposed modifying standard endografts by manually creating graft fenestrations. This allows for effective aneurysm exclusion and satisfactory patency of visceral vessels. Although physician-modified grafts (PMEGs) have demonstrated high technical success, standardized creation processes and long-term safety data are still lacking, necessitating further study to validate their clinical and legal standing. The aim of this article is to illustrate the state of the art with regard to this surgical technique, summarizing its origin, evolution, and the main clinical evidence supporting its effectiveness. The paper also aims to discuss the main medico-legal issues related to the use of PMEGs, with particular reference to the issue of safety related to the standardization of the surgical technique, medical liability profiles, and informed consent. Full article

(This article belongs to the Special Issue Precision Medicine in Vascular Disease)

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18 pages, 2135 KiB

Open AccessEditor’s ChoiceReview

Emerging Applications of Nanoparticles in the Diagnosis and Treatment of Breast Cancer

by Josephine B. Oehler, Weranga Rajapaksha and Hugo Albrecht

J. Pers. Med. 2024, 14(7), 723; https://doi.org/10.3390/jpm14070723 - 4 Jul 2024

Cited by 21 | Viewed by 7578

Abstract

Breast cancer remains the most prevalent cancer among women worldwide, driving the urgent need for innovative approaches to diagnosis and treatment. This review highlights the pivotal role of nanoparticles in revolutionizing breast cancer management through advancements of interconnected approaches including targeted therapy, imaging, [...] Read more.

Breast cancer remains the most prevalent cancer among women worldwide, driving the urgent need for innovative approaches to diagnosis and treatment. This review highlights the pivotal role of nanoparticles in revolutionizing breast cancer management through advancements of interconnected approaches including targeted therapy, imaging, and personalized medicine. Nanoparticles, with their unique physicochemical properties, have shown significant promise in addressing current treatment limitations such as drug resistance and nonspecific systemic distribution. Applications range from enhancing drug delivery systems for targeted and sustained release to developing innovative diagnostic tools for early and precise detection of metastases. Moreover, the integration of nanoparticles into photothermal therapy and their synergistic use with existing treatments, such as immunotherapy, illustrate their transformative potential in cancer care. However, the journey towards clinical adoption is fraught with challenges, including the chemical feasibility, biodistribution, efficacy, safety concerns, scalability, and regulatory hurdles. This review delves into the current state of nanoparticle research, their applications in breast cancer therapy and diagnosis, and the obstacles that must be overcome for clinical integration. Full article

(This article belongs to the Special Issue Nanomedicine in Cancer Therapy: What's New)

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18 pages, 1027 KiB

Open AccessEditor’s ChoiceReview

Revolutionizing Pathology with Artificial Intelligence: Innovations in Immunohistochemistry

by Diana Gina Poalelungi, Anca Iulia Neagu, Ana Fulga, Marius Neagu, Dana Tutunaru, Aurel Nechita and Iuliu Fulga

J. Pers. Med. 2024, 14(7), 693; https://doi.org/10.3390/jpm14070693 - 27 Jun 2024

Cited by 6 | Viewed by 2712

Abstract

Artificial intelligence (AI) is a reality of our times, and it has been successfully implemented in all fields, including medicine. As a relatively new domain, all efforts are directed towards creating algorithms applicable in most medical specialties. Pathology, as one of the most [...] Read more.

Artificial intelligence (AI) is a reality of our times, and it has been successfully implemented in all fields, including medicine. As a relatively new domain, all efforts are directed towards creating algorithms applicable in most medical specialties. Pathology, as one of the most important areas of interest for precision medicine, has received significant attention in the development and implementation of AI algorithms. This focus is especially important for achieving accurate diagnoses. Moreover, immunohistochemistry (IHC) serves as a complementary diagnostic tool in pathology. It can be further augmented through the application of deep learning (DL) and machine learning (ML) algorithms for assessing and analyzing immunohistochemical markers. Such advancements can aid in delineating targeted therapeutic approaches and prognostic stratification. This article explores the applications and integration of various AI software programs and platforms used in immunohistochemical analysis. It concludes by highlighting the application of these technologies to pathologies such as breast, prostate, lung, melanocytic proliferations, and hematologic conditions. Additionally, it underscores the necessity for further innovative diagnostic algorithms to assist physicians in the diagnostic process. Full article

(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)

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19 pages, 306 KiB

Open AccessEditor’s ChoiceReview

Shoulder Dystocia: A Comprehensive Literature Review on Diagnosis, Prevention, Complications, Prognosis, and Management

by Panagiotis Tsikouras, Sonia Kotanidou, Konstantinos Nikolettos, Nektaria Kritsotaki, Anastasia Bothou, Sotiris Andreou, Theopi Nalmpanti, Kyriaki Chalkia, Vlassios Spanakis, Panagiotis Peitsidis, George Iatrakis and Nikolaos Nikolettos

J. Pers. Med. 2024, 14(6), 586; https://doi.org/10.3390/jpm14060586 - 30 May 2024

Cited by 4 | Viewed by 7378

Abstract

The term dystocia refers to labor characterized by a slow progression with delayed rates or even pauses in the dilation of the cervix or the descent of the fetus. Dystocia describes the deviation from the limits that define a normal birth and is [...] Read more.

The term dystocia refers to labor characterized by a slow progression with delayed rates or even pauses in the dilation of the cervix or the descent of the fetus. Dystocia describes the deviation from the limits that define a normal birth and is often used as a synonym for the term pathological birth. Shoulder dystocia, also known as the manual exit of the shoulders during vaginal delivery on cephalic presentation, is defined as the “failure of the shoulders to spontaneously traverse the pelvis after delivery of the fetal head”. This means that obstetric interventions are necessary to deliver the fetus’s body after the head has been delivered, as gentle traction has failed. Abnormal labor (dystocia) is expressed and represented in partograms or by the prolongation of the latent phase or by slowing and pausing in the phases of cervical dilatation and fetal descent. While partograms are helpful in visualizing the progress of labor, regular use of them has not been shown to enhance obstetric outcomes considerably, and no partogram has been shown to be superior to others in comparative trials. Dystocia can, therefore, appear in any phase of the evolution of childbirth, so it is necessary to simultaneously assess all the factors that may contribute to its abnormal evolution, that is, the forces exerted, the weight, the shape, the presentation and position of the fetus, the integrity and morphology of the pelvis, and its relation to the fetus. When this complication occurs, it can result in an increased incidence of maternal morbidity, as well as an increased incidence of neonatal morbidity and mortality. Although several risk factors are associated with shoulder dystocia, it has proven impossible to recognize individual cases of shoulder dystocia in practice before they occur during labor. Various guidelines have been published for the management of shoulder dystocia, with the primary goal of educating the obstetrician and midwife on the importance of a preplanned sequence of maneuvers, thereby reducing maternal and neonatal morbidity and mortality. Full article

(This article belongs to the Special Issue Clinical Updates on Reproductive Medicine)

15 pages, 1291 KiB

Open AccessEditor’s ChoiceReview

Sudden Cardiac Death, Post-Mortem Investigation: A Proposing Panel of First Line and Second Line Genetic Tests

by Fabio Del Duca, Alessandro Ghamlouch, Alice Chiara Manetti, Gabriele Napoletano, Elena Sonnini, Biancamaria Treves, Alessandra De Matteis, Raffaele La Russa, Mary N. Sheppard, Vittorio Fineschi and Aniello Maiese

J. Pers. Med. 2024, 14(5), 544; https://doi.org/10.3390/jpm14050544 - 20 May 2024

Cited by 4 | Viewed by 2491

Abstract

Investigating the causes of Sudden cardiac death (SCD) is always difficult; in fact, genetic cardiac conditions associated with SCD could be “silent” even during autopsy investigation. In these cases, it is important to exclude other aetiology and assist to ask for genetic investigations. [...] Read more.

Investigating the causes of Sudden cardiac death (SCD) is always difficult; in fact, genetic cardiac conditions associated with SCD could be “silent” even during autopsy investigation. In these cases, it is important to exclude other aetiology and assist to ask for genetic investigations. Herein, the purpose of this review is to collect the most-implicated genes in SCD and generate a panel with indications for first line and second line investigations. A systematic review of genetic disorders that may cause SCD in the general population was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We subsequently listed the genes that may be tested in the case of sudden cardiac death when the autopsy results are negative or with no evidence of acquired cardiac conditions. To make genetic tests more specific and efficient, it is useful and demanded to corroborate autopsy findings with the molecular investigation as evident in the panel proposed. The genes for first line investigations are HCM, MYBPC3, MYH7, TNNT2, TNNI3, while in case of DCM, the most implicated genes are LMNA and TTN, and in second line for these CDM, ACTN2, TPM1, C1QPB could be investigated. In cases of ACM/ARVC, the molecular investigation includes DSP, DSG2, DSC2, RYR2, PKP2. The channelopathies are associated with the following genes: SCN5A, KCNQ1, KCNH2, KCNE1, RYR2. Our work underlines the importance of genetic tests in forensic medicine and clinical pathology; moreover, it could be helpful not only to assist the pathologists to reach a diagnosis, but also to prevent other cases of SCD in the family of the descendant and to standardise the type of analysis performed in similar cases worldwide. Full article

(This article belongs to the Special Issue Clinical Advances in Functional Genomics)

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32 pages, 840 KiB

Open AccessEditor’s ChoiceReview

Interactions and Trends of Interleukins, PAI-1, CRP, and TNF-α in Inflammatory Responses during the Perioperative Period of Joint Arthroplasty: Implications for Pain Management—A Narrative Review

by Arabela-Codruta Cocea and Cristian Ioan Stoica

J. Pers. Med. 2024, 14(5), 537; https://doi.org/10.3390/jpm14050537 - 17 May 2024

Cited by 4 | Viewed by 2200

Abstract

Inflammation during the perioperative period of joint arthroplasty is a critical aspect of patient outcomes, influencing both the pathophysiology of pain and the healing process. This narrative review comprehensively evaluates the roles of specific cytokines and inflammatory biomarkers in this context and their [...] Read more.

Inflammation during the perioperative period of joint arthroplasty is a critical aspect of patient outcomes, influencing both the pathophysiology of pain and the healing process. This narrative review comprehensively evaluates the roles of specific cytokines and inflammatory biomarkers in this context and their implications for pain management. Inflammatory responses are initiated and propagated by cytokines, which are pivotal in the development of both acute and chronic postoperative pain. Pro-inflammatory cytokines play essential roles in up-regulating the inflammatory response, which, if not adequately controlled, leads to sustained pain and impaired tissue healing. Anti-inflammatory cytokines work to dampen inflammatory responses and promote resolution. Our discussion extends to the genetic and molecular influences on cytokine production, which influence pain perception and recovery rates post-surgery. Furthermore, the role of PAI-1 in modulating inflammation through its impact on the fibrinolytic system highlights its potential as a therapeutic target. The perioperative modulation of these cytokines through various analgesic and anesthetic techniques, including the fascia iliac compartment block, demonstrates a significant reduction in pain and inflammatory markers, thus underscoring the importance of targeted therapeutic strategies. Our analysis suggests that a nuanced understanding of the interplay between pro-inflammatory and anti-inflammatory cytokines is required. Future research should focus on individualized pain management strategies. Full article

(This article belongs to the Special Issue Challenges and Opportunities in Personalized Management of Bone and Joint Infections)

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21 pages, 1072 KiB

Open AccessEditor’s ChoiceReview

Review: A Contemporary, Multifaced Insight into Psoriasis Pathogenesis

by Rucsandra Cristina Dascălu, Andreea Lili Bărbulescu, Loredana Elena Stoica, Ștefan Cristian Dinescu, Cristina Elena Biță, Horațiu Valeriu Popoviciu, Răzvan Adrian Ionescu and Florentin Ananu Vreju

J. Pers. Med. 2024, 14(5), 535; https://doi.org/10.3390/jpm14050535 - 16 May 2024

Cited by 10 | Viewed by 4623

Abstract

Psoriasis is a chronic recurrent inflammatory autoimmune pathology with a significant genetic component and several interferences of immunological cells and their cytokines. The complex orchestration of psoriasis pathogenesis is related to the synergic effect of immune cells, polygenic alterations, autoantigens, and several other [...] Read more.

Psoriasis is a chronic recurrent inflammatory autoimmune pathology with a significant genetic component and several interferences of immunological cells and their cytokines. The complex orchestration of psoriasis pathogenesis is related to the synergic effect of immune cells, polygenic alterations, autoantigens, and several other external factors. The major act of the IL-23/IL-17 axis, strongly influencing the inflammatory pattern established during the disease activity, is visible as a continuous perpetuation of the pro-inflammatory response and keratinocyte activation and proliferation, leading to the development of psoriatic lesions. Genome-wide association studies (GWASs) offer a better view of psoriasis pathogenic pathways, with approximately one-third of psoriasis’s genetic impact on psoriasis development associated with the MHC region, with genetic loci located on chromosome 6. The most eloquent genetic factor of psoriasis, PSORS1, was identified in the MHC I site. Among the several factors involved in its complex etiology, dysbiosis, due to genetic or external stimulus, induces a burst of pro-inflammatory consequences; both the cutaneous and gut microbiome get involved in the psoriasis pathogenic process. Cutting-edge research studies and comprehensive insights into psoriasis pathogenesis, fostering novel genetic, epigenetic, and immunological factors, have generated a spectacular improvement over the past decades, securing the path toward a specific and targeted immunotherapeutic approach and delayed progression to inflammatory arthritis. This review aimed to offer insight into various domains that underline the pathogenesis of psoriasis and how they influence disease development and evolution. The pathogenesis mechanism of psoriasis is multifaceted and involves an interplay of cellular and humoral immunity, which affects susceptible microbiota and the genetic background. An in-depth understanding of the role of pathogenic factors forms the basis for developing novel and individualized therapeutic targets that can improve disease management. Full article

(This article belongs to the Special Issue Immune-Mediated Diseases)

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18 pages, 1020 KiB

Open AccessEditor’s ChoiceReview

Exploring the Gut Microbiome’s Role in Inflammatory Bowel Disease: Insights and Interventions

by Despoina Gyriki, Christos Nikolaidis, Elisavet Stavropoulou, Ioanna Bezirtzoglou, Christina Tsigalou, Stergios Vradelis and Eugenia Bezirtzoglou

J. Pers. Med. 2024, 14(5), 507; https://doi.org/10.3390/jpm14050507 - 11 May 2024

Cited by 11 | Viewed by 5339

Abstract

Inflammatory Bowel Disease (IBD), encompassing Crohn’s disease (CD) and ulcerative colitis (UC), is a chronic and relapsing inflammatory condition of the intestine that significantly impairs quality of life and imposes a heavy burden on healthcare systems globally. While the exact etiology of IBD [...] Read more.

Inflammatory Bowel Disease (IBD), encompassing Crohn’s disease (CD) and ulcerative colitis (UC), is a chronic and relapsing inflammatory condition of the intestine that significantly impairs quality of life and imposes a heavy burden on healthcare systems globally. While the exact etiology of IBD is unclear, it is influenced by genetic, environmental, immunological, and microbial factors. Recent advances highlight the gut microbiome’s pivotal role in IBD pathogenesis. The microbial dysbiosis characteristic of IBD, marked by a decline in beneficial bacteria and an increase in pathogenic microbes, suggests a profound connection between microbial imbalance and disease mechanisms. This review explores diagnostic approaches to IBD that integrate clinical assessment with advanced microbiological analyses, highlighting the potential of microbiome profiling as a non-invasive diagnostic tool. In addition, it evaluates conventional and emerging treatments and discusses microbiome-targeted intervention prospects, such as probiotics, symbiotics, and faecal microbiota transplantation. The necessity for future research to establish their efficacy and safety is emphasised. Full article

(This article belongs to the Special Issue Gut Microbiome and Its Impact on Human Health)

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