Previous Issue
Volume 14, May
 
 

J. Pers. Med., Volume 14, Issue 6 (June 2024) – 109 articles

  • Issues are regarded as officially published after their release is announced to the table of contents alert mailing list.
  • You may sign up for e-mail alerts to receive table of contents of newly released issues.
  • PDF is the official format for papers published in both, html and pdf forms. To view the papers in pdf format, click on the "PDF Full-text" link, and use the free Adobe Reader to open them.
Order results
Result details
Section
Select all
Export citation of selected articles as:
29 pages, 1413 KiB  
Systematic Review
The Long Journey towards Personalized Targeted Therapy in Poorly Differentiated Thyroid Carcinoma (PDTC): A Case Report and Systematic Review
by Odysseas Violetis, Panagiota Konstantakou, Ariadni Spyroglou, Antonios Xydakis, Panagiotis B. Kekis, Sofia Tseleni, Denise Kolomodi, Manousos Konstadoulakis, George Mastorakos, Maria Theochari, Javier Aller and Krystallenia I. Alexandraki
J. Pers. Med. 2024, 14(6), 654; https://doi.org/10.3390/jpm14060654 (registering DOI) - 18 Jun 2024
Abstract
Background: Poorly differentiated thyroid carcinoma (PDTC) has an intermediate prognosis between indolent well-differentiated thyroid carcinoma (TC) and anaplastic carcinoma. Herein, we present a case report with a PDTC component, along with a systematic review of the literature. Case Report: We report a case [...] Read more.
Background: Poorly differentiated thyroid carcinoma (PDTC) has an intermediate prognosis between indolent well-differentiated thyroid carcinoma (TC) and anaplastic carcinoma. Herein, we present a case report with a PDTC component, along with a systematic review of the literature. Case Report: We report a case of a 45-year-old man diagnosed with a PDTC component, along with hobnail and tall-cell variant features positive for BRAFV600E mutation, after a total thyroidectomy and neck dissection. Radioactive iodine (RAI)-131 therapy was applied, but an early recurrence led to complementary surgeries. The anti-Tg rise, the presence of new lymph nodes, and the negative whole-bodyradioiodine scan were suggestive of a radioiodine-resistant tumor. Lenvatinib, sorafenib, dabrafenib/trametinib, cabozantinib and radiotherapy were all administered, controlling the tumor for a period of time before the patient ultimately died post-COVID infection. Systematic Review: We searched PubMed, Scopus, and WebofScience to identify studies reporting clinicopathological characteristics, molecular marker expression, and management of non-anaplastic TC with any proportion of PDTC in adult patients. Of the 2007 records retrieved, 82were included in our review (PROSPERO-ID545847). Conclusions: Our case, together with the systematic review, imply that a combination of molecular-targetedtreatments may be safe and effective in patients with RAI-resistantBRAF-mutated advanced PDTC when surgery has failed to control tumor progression. Full article
(This article belongs to the Section Molecular Targeted Therapy)
21 pages, 1073 KiB  
Review
The Role of Oral Supplementation for the Management of Age-Related Macular Degeneration: A Narrative Review
by Angela D’Angelo, Livio Vitiello, Vincenzo Gagliardi, Giulio Salerno, Ilaria De Pascale, Alessia Coppola, Giulia Abbinante, Alfonso Pellegrino and Giuseppe Giannaccare
J. Pers. Med. 2024, 14(6), 653; https://doi.org/10.3390/jpm14060653 (registering DOI) - 18 Jun 2024
Abstract
The majority of neurodegenerative eye disorders occur with aging and significantly impair quality of life. Age-related macular degeneration (AMD) is the third most common cause of visual impairment and blindness worldwide. One of the most important elements in the pathophysiology of neurodegenerative eye [...] Read more.
The majority of neurodegenerative eye disorders occur with aging and significantly impair quality of life. Age-related macular degeneration (AMD) is the third most common cause of visual impairment and blindness worldwide. One of the most important elements in the pathophysiology of neurodegenerative eye disease is certainly oxidative stress, with neuroinflammation and ocular ischemia which may also be significant factors. Antioxidants, either by food or oral supplementation, may be able to mitigate the deleterious effects of reactive oxygen species that build as a result of oxidative stress, ischemia, and inflammation. Over the past few decades, a number of research works examining the potential adjuvant impact of antioxidants in AMD have been published. In fact, there is not only more and more interest in already known molecules but also in new molecules that can help clinicians in the management of this complex multifactorial disease, such as astaxanthin and melatonin. However, while some studies showed encouraging outcomes, others were conflicting. In addition, more and more attention is also being paid to nutrition, considered a pivotal key point, especially to prevent AMD. For this reason, the purpose of this review is to analyze the main antioxidant molecules currently used as oral supplements for AMD treatment, as well as the role of diet and food intake in this ocular disease, to better understand how all these factors can improve the clinical management of AMD patients. Full article
16 pages, 1086 KiB  
Article
The Role of the Gut Microbiome in Inflammatory Bowel Disease: The Middle East Perspective
by Ahmed El-Sayed, Diya Kapila, Rama Sami Issa Taha, Sherif El-Sayed, Mohd Rafiw Ahmed Mahen, Roa’a Taha and Laith Alrubaiy
J. Pers. Med. 2024, 14(6), 652; https://doi.org/10.3390/jpm14060652 - 18 Jun 2024
Viewed by 101
Abstract
The gut microbiome is of paramount importance in preserving internal balance in the gastrointestinal tract; therefore, disruptions in its regulation have been linked to the development of inflammatory bowel disease (IBD). This article explores the intricate details of the gastrointestinal microbiome as it [...] Read more.
The gut microbiome is of paramount importance in preserving internal balance in the gastrointestinal tract; therefore, disruptions in its regulation have been linked to the development of inflammatory bowel disease (IBD). This article explores the intricate details of the gastrointestinal microbiome as it pertains to inflammatory bowel disease (IBD), with an emphasis on the Middle East. The study reviews the typical gut microbiome, modifications in inflammatory bowel disease (IBD), determinants impacting the gut microbiome of the Middle East, and prospective therapeutic interventions. Full article
Show Figures

Figure 1

15 pages, 2873 KiB  
Article
Mobile App for Enhanced Anterior Cruciate Ligament (ACL) Assessment in Conscious Subjects: “Pivot-Shift Meter”
by Edmundo Berumen-Nafarrate, Ivan Rene Ramos-Moctezuma, Luis Raúl Sigala-González, Fatima Norely Quintana-Trejo, Jesus Javier Tonche-Ramos, Nadia Karina Portillo-Ortiz, Carlos Eduardo Cañedo-Figueroa and Arturo Aguirre-Madrid
J. Pers. Med. 2024, 14(6), 651; https://doi.org/10.3390/jpm14060651 - 18 Jun 2024
Viewed by 48
Abstract
Anterior cruciate ligament (ACL) instability poses a considerable challenge in traumatology and orthopedic medicine, demanding precise diagnostics for optimal treatment. The pivot-shift test, a pivotal assessment tool, relies on subjective interpretation, emphasizing the need for supplementary imaging. This study addresses this limitation by [...] Read more.
Anterior cruciate ligament (ACL) instability poses a considerable challenge in traumatology and orthopedic medicine, demanding precise diagnostics for optimal treatment. The pivot-shift test, a pivotal assessment tool, relies on subjective interpretation, emphasizing the need for supplementary imaging. This study addresses this limitation by introducing a machine learning classification algorithm integrated into a mobile application, leveraging smartphones’ built-in inertial sensors for dynamic rotational stability assessment during knee examinations. Orthopedic specialists conducted knee evaluations on a cohort of 52 subjects, yielding valuable insights. Quantitative analyses, employing the Intraclass Correlation Coefficient (ICC), demonstrated robust agreement in both intraobserver and interobserver assessments. Specifically, ICC values of 0.94 reflected strong concordance in the timing between maneuvers, while signal amplitude exhibited consistency, with the ICC ranging from 0.71 to 0.66. The introduced machine learning algorithms proved effective, accurately classifying 90% of cases exhibiting joint hypermobility. These quantifiable results underscore the algorithm’s reliability in assessing knee stability. This study emphasizes the practicality and effectiveness of implementing machine learning algorithms within a mobile application, showcasing its potential as a valuable tool for categorizing signals captured by smartphone inertial sensors during the pivot-shift test. Full article
Show Figures

Figure 1

13 pages, 300 KiB  
Article
Assessing Nutritional Deficiencies in Bariatric Surgery Patients: A Comparative Study of Roux-en-Y Gastric Bypass versus Sleeve Gastrectomy
by José P. Vieira de Sousa, Hugo Santos-Sousa, Sofia Vieira, Rita Nunes, Jorge Nogueiro, André Pereira, Fernando Resende, André Costa-Pinho, John Preto, Bernardo Sousa-Pinto, Silvestre Carneiro and Eduardo Lima-da-Costa
J. Pers. Med. 2024, 14(6), 650; https://doi.org/10.3390/jpm14060650 - 18 Jun 2024
Viewed by 113
Abstract
Obesity is a worldwide epidemic, and bariatric surgery is considered the primary treatment for long-term weight loss and managing obesity-related health issues. Sleeve gastrectomy (SG) and Roux-en-Y gastric bypass (RYGB) are the most performed procedures. Nutritional deficiencies are a significant concern following bariatric [...] Read more.
Obesity is a worldwide epidemic, and bariatric surgery is considered the primary treatment for long-term weight loss and managing obesity-related health issues. Sleeve gastrectomy (SG) and Roux-en-Y gastric bypass (RYGB) are the most performed procedures. Nutritional deficiencies are a significant concern following bariatric surgery and can have serious consequences. This study aims to compare the incidence of nutritional deficiencies in patients undergoing RYGB and SG. A retrospective analysis was conducted on the nutritional status of 505 consecutive patients who underwent either RYGB or SG between January and December 2019. Data were collected regarding vitamin B12, folic acid, vitamin D, calcium, PTH, magnesium, hemoglobin, iron, ferritin, and transferrin at preoperative, 6-month, and 12-month intervals post-surgery. The RYGB group showed significantly higher excess weight loss. Vitamin B12, hemoglobin, and ferritin levels were consistently higher in the SG group throughout the study. Vitamin D deficiency was prevalent, with no significant difference between the groups. Vitamin B12 deficiency was significantly more common in the RYGB group (6 months: 17.46% vs. 4.69%, p < 0.001; 12 months: 16.74% vs. 0.93%, p < 0.001). Despite differences in their mechanisms, bariatric surgeries were associated with nutritional deficiencies. It is crucial to efficiently assess, prevent, and manage these deficiencies tailored to each surgical procedure. Full article
(This article belongs to the Special Issue New Advances and Challenges in Metabolic and Bariatric Surgery)
11 pages, 1290 KiB  
Article
A Genome-Wide Association Study of Oxypurinol Concentrations in Patients Treated with Allopurinol
by Maxime Meloche, Marc-Olivier Pilon, Sylvie Provost, Grégoire Leclair, Essaïd Oussaïd, Isabelle St-Jean, Martin Jutras, Marie-Josée Gaulin, Louis-Philippe Lemieux Perreault, Diane Valois, Ian Mongrain, David Busseuil, Jean-Lucien Rouleau, Jean-Claude Tardif, Marie-Pierre Dubé and Simon de Denus
J. Pers. Med. 2024, 14(6), 649; https://doi.org/10.3390/jpm14060649 - 18 Jun 2024
Viewed by 111
Abstract
Cohort studies have identified several genetic determinants that could predict the clinical response to allopurinol. However, they have not been commonly used for genome-wide investigations to identify genetic determinants on allopurinol metabolism and concentrations. We conducted a genome-wide association study of a prior [...] Read more.
Cohort studies have identified several genetic determinants that could predict the clinical response to allopurinol. However, they have not been commonly used for genome-wide investigations to identify genetic determinants on allopurinol metabolism and concentrations. We conducted a genome-wide association study of a prior cross-sectional investigation of patients from the Montreal Heart Institute Biobank undergoing allopurinol therapy. Four endpoints were investigated, namely plasma concentrations of oxypurinol, the active metabolite of allopurinol, allopurinol, and allopurinol-riboside, as well as allopurinol daily dosing. A total of 439 participants (mean age 69.4 years; 86.4% male) taking allopurinol (mean daily dose 194.5 mg) and who had quantifiable oxypurinol concentrations were included in the genome-wide analyses. Participants presented with multiple comorbidities and received concomitant cardiovascular medications. No association achieved the predefined genome-wide threshold values for any of the endpoints (all p > 5 × 10−8). Our results are consistent with prior findings regarding the difficulty in identifying genetic determinants of drug concentrations or pharmacokinetics of allopurinol and its metabolites, as well as allopurinol daily dosing. Given the size of this genome-wide study, collaborative investigations involving larger and diverse cohorts may be required to further identify pharmacogenomic determinants of allopurinol and measure their clinical relevance to personalize allopurinol therapy. Full article
(This article belongs to the Special Issue Pharmacogenomics of Drug Metabolism and Pharmacokinetics)
Show Figures

Figure 1

15 pages, 2151 KiB  
Communication
SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland
by Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié and Anita Rauch
J. Pers. Med. 2024, 14(6), 648; https://doi.org/10.3390/jpm14060648 - 17 Jun 2024
Viewed by 173
Abstract
Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows. This includes extensive variant prioritization, annotation, and time-consuming evidence curation. The scale of the interpretation problem is massive, and variants of uncertain significance [...] Read more.
Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows. This includes extensive variant prioritization, annotation, and time-consuming evidence curation. The scale of the interpretation problem is massive, and variants of uncertain significance (VUSs) are a challenge to personalized medicine. This challenge is further compounded by the complexity and heterogeneity of the standards used to describe genetic variants and the associated phenotypes when searching for relevant information to support clinical decision making. To address this, all five Swiss academic institutions for Medical Genetics joined forces with the Swiss Institute of Bioinformatics (SIB) to create SwissGenVar as a user-friendly nationwide repository and sharing platform for genetic variant data generated during routine diagnostic procedures and research sequencing projects. Its aim is to provide a protected environment for expert evidence sharing about individual variants to harmonize and upscale their significance interpretation at the clinical grade according to international standards. To corroborate the clinical assessment, the variant-related data will be combined with consented high-quality clinical information. Broader visibility will be achieved by interfacing with international databases, thus supporting global initiatives in personalized healthcare. Full article
(This article belongs to the Topic Public Health and Healthcare in the Context of Big Data)
15 pages, 1403 KiB  
Review
Artificial Intelligence Used for Diagnosis in Facial Deformities: A Systematic Review
by Victor Ravelo, Julio Acero, Jorge Fuentes-Zambrano, Henry García Guevara and Sergio Olate
J. Pers. Med. 2024, 14(6), 647; https://doi.org/10.3390/jpm14060647 - 17 Jun 2024
Viewed by 213
Abstract
AI is included in a lot of different systems. In facial surgery, there are some AI-based software programs oriented to diagnosis in facial surgery. This study aims to evaluate the capacity and training of models for diagnosis of dentofacial deformities in class II [...] Read more.
AI is included in a lot of different systems. In facial surgery, there are some AI-based software programs oriented to diagnosis in facial surgery. This study aims to evaluate the capacity and training of models for diagnosis of dentofacial deformities in class II and class III patients using artificial intelligence and the potential use for indicating orthognathic surgery. The search strategy is from 1943 to April 2024 in PubMed, Embase, Scopus, Lilacs, and Web of Science. Studies that used imaging to assess anatomical structures, airway volume, and craniofacial positions using the AI algorithm in the human population were included. The methodological quality of the studies was assessed using the Effective Public Health Practice Project instrument. The systematic search identified 697 articles. Eight studies were obtained for descriptive analysis after exclusion according to our inclusion and exclusion criteria. All studies were retrospective in design. A total of 5552 subjects with an age range between 14.7 and 56 years were obtained; 2474 (44.56%) subjects were male, and 3078 (55.43%) were female. Six studies were analyzed using 2D imaging and obtained highly accurate results in diagnosing skeletal features and determining the need for orthognathic surgery, and two studies used 3D imaging for measurement and diagnosis. Limitations of the studies such as age, diagnosis in facial deformity, and the included variables were observed. Concerning the overall analysis bias, six studies were at moderate risk due to weak study designs, while two were at high risk of bias. We can conclude that, with the few articles included, using AI-based software allows for some craniometric recognition and measurements to determine the diagnosis of facial deformities using mainly 2D analysis. However, it is necessary to perform studies based on three-dimensional images, increase the sample size, and train models in different populations to ensure accuracy of AI applications in this field. After that, the models can be trained for dentofacial diagnosis Full article
(This article belongs to the Special Issue State-of-the-Art in Precision Medicine of Plastic Surgery)
Show Figures

Figure 1

16 pages, 275 KiB  
Article
The Relationship between the Laboratory Biomarkers of SARS-CoV-2 Patients with Type 2 Diabetes at Discharge and the Severity of the Viral Pathology
by Patricia-Andrada Reștea, Ștefan Țigan, Laura Grațiela Vicaș, Luminita Fritea, Mariana Eugenia Mureșan, Felicia Manole and Daniela Elisabeta Berdea
J. Pers. Med. 2024, 14(6), 646; https://doi.org/10.3390/jpm14060646 - 17 Jun 2024
Viewed by 237
Abstract
In this study, we evaluated the discharge status of patients with type 2 diabetes mellitus and SARS-CoV-2 infection, focusing on the inflammatory profile through biomarkers such as procalcitonin, CRP, LDH, fibrinogen, ESR, and ferritin, as well as electrolyte levels and the prior diagnosis [...] Read more.
In this study, we evaluated the discharge status of patients with type 2 diabetes mellitus and SARS-CoV-2 infection, focusing on the inflammatory profile through biomarkers such as procalcitonin, CRP, LDH, fibrinogen, ESR, and ferritin, as well as electrolyte levels and the prior diagnosis of diabetes or its identification at the time of hospitalization. We assessed parameters at discharge for 45 patients admitted to the Clinical Hospital “Gavril Curteanu” Oradea between 21 October 2021, and 31 December 2021, randomly selected, having as the main inclusion criteria the positive RT-PCR rapid antigen test for viral infection and the diagnosis of type 2 diabetes. At discharge, patients with type 2 diabetes registered significantly lower mean procalcitonin levels among those who survived compared to those who died from COVID-19. In our study, ferritin and hemoglobin values in individuals with type 2 diabetes were outside the reference range at discharge and correlated with severe or moderate forms of COVID-19 infection. Additionally, elevated ferritin levels at discharge were statistically associated with hypokalemia and elevated levels of ESR at discharge. Another strong statistically significant correlation was identified between high CRP levels at discharge, strongly associated (p < 0.001) with elevated LDH and fibrinogen levels in patients with type 2 diabetes and SARS-CoV-2 viral infection. The increase in CRP was inversely statistically associated with the tendency of serum potassium to decrease at discharge in patients with type 2 diabetes and COVID-19. Identifying type 2 diabetes metabolic pathology at the time of hospitalization for SARS-CoV-2 infection, compared to pre-infection diabetes diagnosis, did not significantly influence the laboratory parameter status at the time of discharge. At the discharge of patients with type 2 diabetes and viral infection with the novel coronavirus, procalcitonin was significantly reduced in those who survived COVID-19 infection, and disease severity was significantly correlated with hyperferritinemia and decreased hemoglobin at discharge. Hyperferritinemia in patients with type 2 diabetes and COVID-19 at discharge was associated with hypokalemia and persistent inflammation (quantified by ESR at discharge). The low number of erythrocytes at discharge is associated with maintaining inflammation at discharge (quantified by the ESR value). Full article
(This article belongs to the Section Disease Biomarker)
11 pages, 2492 KiB  
Brief Report
Effects of NF-κB Inhibitor on Sepsis Depend on the Severity and Phase of the Animal Sepsis Model
by Ye Jin Park, Jinkun Bae, Jae-Kwang Yoo, So-Hee Ahn, Seon Young Park, Yun-Seok Kim, Min Ji Lee, Seon Young Moon, Tae Nyoung Chung, Chulhee Choi and Kyuseok Kim
J. Pers. Med. 2024, 14(6), 645; https://doi.org/10.3390/jpm14060645 - 17 Jun 2024
Viewed by 228
Abstract
Hyperinflammation occurs in sepsis, especially in the early phase, and it could have both positive and negative effects on sepsis. Previously, we showed that a new concept of NF-κB inhibitor, exosome-based super-repressor IκBα (Exo-srIκB) delivery, has a beneficial effect on sepsis. Here, we [...] Read more.
Hyperinflammation occurs in sepsis, especially in the early phase, and it could have both positive and negative effects on sepsis. Previously, we showed that a new concept of NF-κB inhibitor, exosome-based super-repressor IκBα (Exo-srIκB) delivery, has a beneficial effect on sepsis. Here, we further investigate the therapeutic effects of Exo-srIκB at different severities and phases of sepsis using an animal polymicrobial intra-abdominal infection model. We used a rat model of fecal slurry polymicrobial sepsis. First, we determined the survival effects of Exo-srIκB on sepsis according to the severity. We used two different severities of the animal sepsis model. The severe model had a mortality rate of over 50%. The mild/moderate model had a less than 30% mortality rate. Second, we administered the Exo-srIκB at various time points (1 h, 6 h, and 24 h after fecal slurry administration) to determine the therapeutic effect of Exo-srIκB at different phases of sepsis. Lastly, we determined the effects of the Exo-srIκB on cytokine production, arterial blood gas, electrolyte, and lactate. The survival gain was statistically significant in the severe sepsis model when Exo-srIκB was administered 6 h after sepsis. Interleukin 6 and interleukin-10 were significantly decreased in the kidney when administered with Exo-srIκB. The laboratory data showed that lactate, glucose, and potassium levels were significantly lowered in the NF-κB inhibitor group. In conclusion, Exo-srIκB exhibited a beneficial therapeutic effect when administered 6 h post fecal slurry administration in a severe sepsis model. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
Show Figures

Figure 1

11 pages, 388 KiB  
Review
Unveiling the Hidden Perils: A Comprehensive Review of Fungal Infections in Inflatable Penile Prosthesis Surgery
by Anastasios Natsos, Vasileios Tatanis, Alexandra Lekkou, Stavros Kontogiannis, Athanasios Vagionis, Theodoros Spinos, Angelis Peteinaris, Mohammed Obaidat, Konstantinos Pagonis, Panagiotis Kallidonis, Evangelos Liatsikos and Petros Drettas
J. Pers. Med. 2024, 14(6), 644; https://doi.org/10.3390/jpm14060644 - 16 Jun 2024
Viewed by 191
Abstract
Inflatable penile prosthesis (IPP) surgery is an effective treatment for erectile dysfunction (ED), but infections pose a significant threat to its success. Current guidelines lack antifungal recommendations, despite rising fungal infection rates post-IPP surgery. This review examines epidemiology, risk factors (including diabetes mellitus, [...] Read more.
Inflatable penile prosthesis (IPP) surgery is an effective treatment for erectile dysfunction (ED), but infections pose a significant threat to its success. Current guidelines lack antifungal recommendations, despite rising fungal infection rates post-IPP surgery. This review examines epidemiology, risk factors (including diabetes mellitus, immunosuppression, and obesity), and pathogenesis, highlighting the role of biofilm formation in device contamination. Clinical manifestations vary from acute to delayed, with fungal biofilms presenting challenges in diagnosis. Prophylactic strategies, including broad-spectrum antibiotics and antifungals, are crucial, with evidence suggesting a 92% reduction in infections. With fungal infections showing lower salvage rates, management involves culture-guided treatment, irrigation, and oral antibiotics. Future research aims to understand biofilm mechanisms and develop biomaterials to reduce infection rates. Implementing antifungal therapy, along with standard practices like the no-touch technique and antibiotic dips, is crucial in preventing IPP infections. Full article
(This article belongs to the Special Issue Advances in Treatment of Urinary Bladder Cancer)
12 pages, 810 KiB  
Article
Development of a Simple Scoring System for Predicting Discharge Safety from the Medical ICU to Low-Acuity Wards: The Role of the Sequential Organ Failure Assessment Score, Albumin, and Red Blood Cell Distribution Width
by Chang Hwan Seol, Min Dong Sung, Shihwan Chang, Bo Ra Yoon, Yun Ho Roh, Ji Eun Park and Kyung Soo Chung
J. Pers. Med. 2024, 14(6), 643; https://doi.org/10.3390/jpm14060643 - 16 Jun 2024
Viewed by 192
Abstract
Despite advancements in artificial intelligence-based decision-making, transitioning patients from intensive care units (ICUs) to low-acuity wards is challenging, especially in resource-limited settings. This study aimed to develop a simple scoring system to predict ICU discharge safety. We retrospectively analyzed patients admitted to a [...] Read more.
Despite advancements in artificial intelligence-based decision-making, transitioning patients from intensive care units (ICUs) to low-acuity wards is challenging, especially in resource-limited settings. This study aimed to develop a simple scoring system to predict ICU discharge safety. We retrospectively analyzed patients admitted to a tertiary hospital’s medical ICU (MICU) between July 2016 and December 2021. This period was divided into two phases for model development and validation. We identified risk factors associated with unexpected death within 14 days of MICU discharge and developed a predictive scoring system that incorporated these factors. We verified the system’s performance using validation data. In the development cohort, 522 patients were discharged from the MICU, and 42 (8.04%) died unexpectedly. In multivariate analysis, the Sequential Organ Failure Assessment (SOFA) score (odds ratio [OR] 1.26, 95% confidence interval [CI] 1.13–1.41), red blood cell distribution width (RDW) (OR 1.20, 95% CI 1.07–1.36), and albumin (OR 0.37, 95% CI 0.16–0.84) were predictors of unexpected death. Each variable was assigned a weighted point in the scoring system, and the area under the curve (AUC) was 0.788 (95% CI 0.714–0.855). The scoring system was performed using an AUC of 0.738 (95% CI 0.653–0.822) in the validation cohort of 343 patients with 9.62% of unexpected deaths. When a cut-off of 0.032 was applied, a sensitivity and a specificity of 81.8% and 55.2%, respectively, were achieved. This simple bedside predictive score for ICU discharge uses the SOFA score, albumin level, and RDW to aid in timely decision-making and optimize critical care facility allocation in resource-limited settings. Full article
(This article belongs to the Special Issue New Perspectives of Critical Care Medicine)
Show Figures

Figure 1

11 pages, 921 KiB  
Article
Predictive Value of Ultrasound-Measured Quadriceps Depth and Frailty Status for Hypotension in Older Patients Undergoing Reverse Total Shoulder Arthroplasty in the Beach Chair Position under General Anesthesia
by Sang-Mee An, Hyun Jung Lee, Jae Hee Woo, Ji Seon Chae and Sang-jin Shin
J. Pers. Med. 2024, 14(6), 642; https://doi.org/10.3390/jpm14060642 - 16 Jun 2024
Viewed by 165
Abstract
The beach chair position (BCP) is widely used in shoulder surgery; however, it frequently leads to hypotension. Hypotension in BCP is prevalent among older patients who are at risk of secondary complications such as ischemic injuries. Therefore, this prospective study aimed to investigate [...] Read more.
The beach chair position (BCP) is widely used in shoulder surgery; however, it frequently leads to hypotension. Hypotension in BCP is prevalent among older patients who are at risk of secondary complications such as ischemic injuries. Therefore, this prospective study aimed to investigate the association and predictive value of frailty, as assessed by ultrasound-measured quadriceps depth and questionnaire, in patients aged ≥65 years undergoing elective shoulder surgery under general anesthesia. A multivariable logistic regression analysis was performed to identify independent risk factors for hypotension in BCP under general anesthesia. Receiver operating characteristic curves were constructed to assess the predictive values of various parameters. The results indicated that a quadriceps depth < 2.3 cm and BCP for an extended period significantly increased the risk of hypotension. The combined consideration of quadriceps depth < 2.3 cm and frailty demonstrated markedly superior predictive power compared with each factor individually. In conclusion, the study findings facilitate the screening and identification of risk factors for older patients undergoing surgery in BCP, thereby enhancing perioperative management. Full article
(This article belongs to the Special Issue Anesthesiology and Pain Management in Clinical Medicine)
Show Figures

Figure 1

15 pages, 1018 KiB  
Case Report
Reversal of Autism Symptoms among Dizygotic Twins through a Personalized Lifestyle and Environmental Modification Approach: A Case Report and Review of the Literature
by Christopher R. D’Adamo, Josephine L. Nelson, Sara N. Miller, Maria Rickert Hong, Elizabeth Lambert and Heather Tallman Ruhm
J. Pers. Med. 2024, 14(6), 641; https://doi.org/10.3390/jpm14060641 - 15 Jun 2024
Viewed by 564
Abstract
The prevalence of autism has been increasing at an alarming rate. Even accounting for the expansion of autism spectrum disorder diagnostic (ASD) criteria throughout the 1990’s, there has been an over 300% increase in ASD prevalence since the year 2000. The often debilitating [...] Read more.
The prevalence of autism has been increasing at an alarming rate. Even accounting for the expansion of autism spectrum disorder diagnostic (ASD) criteria throughout the 1990’s, there has been an over 300% increase in ASD prevalence since the year 2000. The often debilitating personal, familial, and societal sequelae of autism are generally believed to be lifelong. However, there have been several encouraging case reports demonstrating the reversal of autism diagnoses, with a therapeutic focus on addressing the environmental and modifiable lifestyle factors believed to be largely underlying the condition. This case report describes the reversal of autism symptoms among dizygotic, female twin toddlers and provides a review of related literature describing associations between modifiable lifestyle factors, environmental exposures, and various clinical approaches to treating autism. The twins were diagnosed with Level 3 severity ASD “requiring very substantial support” at approximately 20 months of age following concerns of limited verbal and non-verbal communication, repetitive behaviors, rigidity around transitions, and extensive gastrointestinal symptoms, among other common symptoms. A parent-driven, multidisciplinary, therapeutic intervention involving a variety of licensed clinicians focusing primarily on addressing environmental and modifiable lifestyle factors was personalized to each of the twin’s symptoms, labs, and other outcome measures. Dramatic improvements were noted within several months in most domains of the twins’ symptoms, which manifested in reductions of Autism Treatment Evaluation Checklist (ATEC) scores from 76 to 32 in one of the twins and from 43 to 4 in the other twin. The improvement in symptoms and ATEC scores has remained relatively stable for six months at last assessment. While prospective studies are required, this case offers further encouraging evidence of ASD reversal through a personalized, multidisciplinary approach focusing predominantly on addressing modifiable environmental and lifestyle risk factors. Full article
8 pages, 1697 KiB  
Communication
Therapeutic Apheresis Using a β2-Microglobulin Removal Column Reduces Circulating Tumor Cell Count
by Yasuo Komura, Shintarou Kimura, Ayana Takaura, Yumi Hirasawa, Katsunori Segawa, Hiromi Muranishi, Osamu Imataki, Yoshihisa Kumayama and Koichiro Homma
J. Pers. Med. 2024, 14(6), 640; https://doi.org/10.3390/jpm14060640 - 15 Jun 2024
Viewed by 288
Abstract
An elevated serum β2-microglobulin (β2M) level is indicative of impaired glomerular filtration and prerenal diseases, such as malignant tumors, autoimmune disorders, and liver diseases. An elevated serum β2M level has been shown to promote metastasis via the induction of epithelial–mesenchymal transition (EMT) in [...] Read more.
An elevated serum β2-microglobulin (β2M) level is indicative of impaired glomerular filtration and prerenal diseases, such as malignant tumors, autoimmune disorders, and liver diseases. An elevated serum β2M level has been shown to promote metastasis via the induction of epithelial–mesenchymal transition (EMT) in cancer cells. However, the therapeutic potential of targeting β2M remains unclear. Here, we aimed to investigate the efficacy of Filtor, a small polymethyl methacrylate fiber-based β2M removal column, in reducing the β2M level and suppressing cancer cell-induced EMT and metastasis. We assessed the effects of Filtor on the changes in metastasis based on the number of circulating tumor cells (CTCs), which reflects the post-EMT cancer cell population. We performed therapeutic apheresis using Filtor on a male patient with sinonasal neuroendocrine carcinoma, a female patient with a history of colorectal cancer, and another female patient with a history of pancreatic ductal adenocarcinoma. Significantly low serum β2M levels and CTC counts were observed immediately and 4 weeks after treatment compared with those in the pretreatment phase. Moreover, the CTC count immediately after therapeutic intervention was markedly reduced, likely because Filtor had trapped CTCs directly. These findings suggest that therapeutic apheresis with Filtor can prevent cancer metastasis and recurrence by directly removing CTCs. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
Show Figures

Figure 1

8 pages, 1054 KiB  
Case Report
Genomic and Transcriptomic Analysis of a Patient with Early-Onset Colorectal Cancer and Therapy-Induced Focal Nodular Hyperplasia: A Case Report
by Mary O’Reilly, Aleksandar Krstic, Luis F. Iglesias-Martinez, Éanna J. Ryan, Bruce Moran, Des Winter, Kieran Sheahan, Ray McDermott and Walter Kolch
J. Pers. Med. 2024, 14(6), 639; https://doi.org/10.3390/jpm14060639 - 15 Jun 2024
Viewed by 186
Abstract
Early-onset colorectal cancer (EOCRC), defined as colorectal cancer in individuals under 50 years of age, has shown an alarming increase in incidence worldwide. We report a case of a twenty-four-year-old female with a strong family history of colorectal cancer (CRC) but without an [...] Read more.
Early-onset colorectal cancer (EOCRC), defined as colorectal cancer in individuals under 50 years of age, has shown an alarming increase in incidence worldwide. We report a case of a twenty-four-year-old female with a strong family history of colorectal cancer (CRC) but without an identified underlying genetic predisposition syndrome. Two years after primary surgery and adjuvant chemotherapy, the patient developed new liver lesions. Extensive diagnostic imaging was conducted to investigate suspected liver metastases, ultimately leading to a diagnosis of focal nodular hyperplasia. The young age of the patient has prompted comprehensive genomic and transcriptomic profiling in order to identify potential oncogenic drivers and inform further clinical management of the patient. Besides a number of oncogenic mutations identified in the patient’s tumour sample, including KRAS G12D, TP53 R248W and TTN L28470V, we have also identified a homozygous deletion of 24.5 MB on chromosome 8. A multivariate Cox regression analysis of this patient’s mutation profile conferred a favourable prognosis when compared with the TCGA COADREAD database. Notably, the identified deletion on chromosome 8 includes the WRN gene, which could contribute to the patient’s overall positive response to chemotherapy. The complex clinical presentation, including the need for emergency surgery, early age at diagnosis, strong family history, and unexpected findings on surveillance imaging, necessitated a multidisciplinary approach involving medical, radiation, and surgical oncologists, along with psychological support and reproductive medicine specialists. Molecular profiling of the tumour strongly indicates that patients with complex mutational profile and rare genomic rearrangements require a prolonged surveillance and personalised informed interventions. Full article
(This article belongs to the Special Issue Genetics, Genomics, and Precision Medicine in Colorectal Cancer)
Show Figures

Figure 1

19 pages, 676 KiB  
Case Report
The Weight of Bariatric Surgery: Wernicke–Korsakoff Syndrome after Vertical Sleeve Gastrectomy—A Case Series
by Melissa Gutiérrez-Rey, Lily Castellar-Visbal, Kaleb Acevedo-Vergara, José Vargas-Manotas, Diego Rivera-Porras, Gloria Londoño-Juliao, Brenda Castillo-Guerrero, María-Camila Perdomo-Jiménez and Valmore Bermúdez
J. Pers. Med. 2024, 14(6), 638; https://doi.org/10.3390/jpm14060638 - 14 Jun 2024
Viewed by 310
Abstract
In this case series, the simultaneous occurrence of Wernicke’s encephalopathy (WE) and dry beriberi was reported in three patients who underwent vertical sleeve gastrectomy (VSG) between May 2021 and May 2023. All patients were obese women who underwent vertical sleeve gastrectomy (VSG) without [...] Read more.
In this case series, the simultaneous occurrence of Wernicke’s encephalopathy (WE) and dry beriberi was reported in three patients who underwent vertical sleeve gastrectomy (VSG) between May 2021 and May 2023. All patients were obese women who underwent vertical sleeve gastrectomy (VSG) without immediate postoperative complications, but two weeks later, hyperemesis and subsequent encephalopathy with ocular movement abnormalities and weakness were observed over the following thirty days. Patients were referred to neurology, where due to the high suspicion of WE, thiamine replacement therapy was initiated; meanwhile, diagnostic neuroimaging and blood tests were conducted. Neurological and psychiatric evaluations and neuroconduction studies were performed to assess the clinical evolution and present sequelae. One year after diagnosis, all patients exhibited affective and behavioral sequelae, anterograde memory impairment, and executive functioning deficits. Two patients met the criteria for Korsakoff syndrome. Additionally, peripheral nervous system sequelae were observed, with all patients presenting with sensorimotor polyneuropathy. In conclusion, Wernicke’s encephalopathy requires a high diagnostic suspicion for timely intervention and prevention of irreversible sequelae, which can be devastating. Therefore, raising awareness among medical professionals regarding the significance of this disease is essential. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
Show Figures

Figure 1

13 pages, 1727 KiB  
Article
Clinical High-Resolution Imaging of the Inner Ear by Using Magnetic Resonance Imaging (MRI) and Cone Beam Computed Tomography (CBCT)
by Tomislav Santek, Erich Hofmann, Christian Milewski, Konrad Schwager and Andreas Prescher
J. Pers. Med. 2024, 14(6), 637; https://doi.org/10.3390/jpm14060637 - 14 Jun 2024
Viewed by 187
Abstract
Purpose: Imaging of the delicate inner ear morphology has become more and more precise owing to the rapid progress in magnetic resonance imaging (MRI). However, in clinical practice, the interpretation of imaging findings is hampered by a limited knowledge of anatomical details which [...] Read more.
Purpose: Imaging of the delicate inner ear morphology has become more and more precise owing to the rapid progress in magnetic resonance imaging (MRI). However, in clinical practice, the interpretation of imaging findings is hampered by a limited knowledge of anatomical details which are frequently obscured by artifacts. Corresponding review articles are as rare in journals as they are in reference books. This shortness prompted us to perform a direct comparison of imaging with anatomical whole-mount sections as a reference. It was the intention of this paper to compare the microscopic anatomy of a human inner ear as shown on anatomical whole-mount sections with high-resolution MRI and cone beam computed tomography (CBCT). Both are available in clinical routine and depict the structures with maximum spatial resolution. It was also a goal of this work to clarify if structures that were observed on MRI in a regular manner correlate with factual inner ear anatomy or correspond with artifacts typical for imaging. Methods: A fresh human anatomical specimen was examined on a clinical 3-Tesla MRI scanner using a dedicated surface coil. The same specimen was then studied with CBCT. In each imaging modality, high-resolution 3D data sets which enabled multiplanar reformatting were created. In the second step, anatomical whole-mount sections of the specimen were cut and stained. This process enabled a direct comparison of imaging with anatomical conditions. Results: Clinical MRI was able to depict the inner ear with remarkable anatomical precision. Strongly T2-weighted imaging protocols are exquisitely capable of showing the fluid-filled components of the inner ear. The macular organs, ampullar crests and cochlear aqueduct were clearly visible. Truncation artifacts are prone to be confused with the delicate membrane separating the endolymphatic from the perilymphatic compartment. However, it was not possible to directly depict this borderline. Conclusions: With the maximum resolution of magnetic resonance tomography, commonly used in everyday clinical practice, even the smallest details of the inner ear structures can be reliably displayed. However, it is important to distinguish between truncation artifacts and true anatomical structures. Therefore, this study can be useful as a reference for image analysis. Full article
(This article belongs to the Section Methodology, Drug and Device Discovery)
Show Figures

Figure 1

15 pages, 1094 KiB  
Review
ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia
by John O. Ogunbileje, Neil Harris, Tung Wynn, Reema Kashif, Brian Stover and Bremansu Osa-Andrews
J. Pers. Med. 2024, 14(6), 636; https://doi.org/10.3390/jpm14060636 - 14 Jun 2024
Viewed by 239
Abstract
The ATP-binding cassette (ABC) transporters are a vast group of 48 membrane proteins, some of which are of notable physiological and clinical importance. Some ABC transporters are involved in functions such as the transport of chloride ions, bilirubin, reproductive hormones, cholesterol, and iron. [...] Read more.
The ATP-binding cassette (ABC) transporters are a vast group of 48 membrane proteins, some of which are of notable physiological and clinical importance. Some ABC transporters are involved in functions such as the transport of chloride ions, bilirubin, reproductive hormones, cholesterol, and iron. Consequently, genetic or physiological disruption in these functions is manifested in various disease processes like cystic fibrosis, Tangier disease, and sideroblastic anemia. Among other etiologies, primary sideroblastic anemia results from a genetic mutation in the ATP-binding cassette-7 (ABCB7), a member of the ABC transporter family. There are not many articles specifically tackling the disease processes caused by ABC transporters in detail. Some testing methodologies previously reported in the available literature for investigating sideroblastic anemia need updating. Here, we expound on the relevance of ABCB7 as a clinically important ABC transporter and a rare participant in the disease process of Sideroblastic anemia. The other genetic and secondary etiologies of sideroblastic anemia, which do not involve mutations in the ABCB7 protein, are also described. We review the pathophysiology, clinical course, symptoms, diagnosis, and treatment of sideroblastic anemia with a focus on modern technologies for laboratory testing. Full article
(This article belongs to the Special Issue Pharmacogenomics from Research to Current Practice)
Show Figures

Figure 1

15 pages, 1426 KiB  
Article
Low-Carbon Monoxide Diffusing Capacity, Patient-Reported Measures and Reduced Nailfold Capillary Density Are Associated with Interstitial Lung Disease in Systemic Sclerosis
by Rossella De Angelis, Edoardo Cipolletta, Francesca Francioso, Marina Carotti, Sonia Farah, Andrea Giovagnoni and Fausto Salaffi
J. Pers. Med. 2024, 14(6), 635; https://doi.org/10.3390/jpm14060635 - 14 Jun 2024
Viewed by 175
Abstract
The aim of this paper is to identify factors associated with interstitial lung disease (ILD) in patients with systemic sclerosis (SSc) and build an algorithm to better define this association for a personalised application in clinical practice. Methods. A total of 78 SSc [...] Read more.
The aim of this paper is to identify factors associated with interstitial lung disease (ILD) in patients with systemic sclerosis (SSc) and build an algorithm to better define this association for a personalised application in clinical practice. Methods. A total of 78 SSc patients underwent HRCT to assess ILD. Demographic, clinical and laboratory variables were collected, focusing on those associated either directly or indirectly with lung involvement. The discriminant value of each variable was determined using the operating characteristic curves (ROC) and included in a model to estimate the strength of ILD association in SSc. Results. Thirty-three (42.31%) patients showed ILD on HRCT. DLco, M-Borg, GERD-Q and capillary density were significantly associated with the presence of ILD-SSc. A model including these variables had a coefficient of determination (R2) of 0.697. DLco had an AUC of 0.861 (p < 0.001) with a cut-off of ≤72.3% (sensitivity 78.8%, specificity 91.1%, +LR 8.86). The m-Borg Scale showed an AUC of 0.883 (p < 0.001) with a cut-off >2 (sensitivity 84.8%, specificity 82.2%, +LR 4.77), GERD-Q had an AUC of 0.815 (p < 0.001) with a cut-off >7 (sensitivity 72.7%, specificity 86.7%, +LR 5.45). The capillary density showed an AUC of 0.815 (p < 0.001) with a cut-off of ≤4.78 (sensitivity 87.9%, specificity 68.9%, +LR 2.82). Based on the pre-test probability values, these four variables were applied to Fagan’s nomogram to calculate the post-test probability of this association. Conclusions. Our study identified four associated clinical factors of ILD in SSc patients. Moreover, their inclusion in an algorithm for the post-test probability, tailored to the specific patients’ characteristics, significantly increases the ability to find out the presence of SSc-ILD. Full article
(This article belongs to the Special Issue Personalized Medicine for Rheumatic Diseases)
Show Figures

Figure 1

18 pages, 2584 KiB  
Review
Value-Based Health Care Implementation: The Case Study of mTBI Biomarkers
by Martina Zibetti, Chiara Di Resta, Giuseppe Banfi and Rossella Tomaiuolo
J. Pers. Med. 2024, 14(6), 634; https://doi.org/10.3390/jpm14060634 - 14 Jun 2024
Viewed by 190
Abstract
Traumatic brain injury is a significant global health issue, affecting approximately 69 million people annually. Early diagnosis is crucial for effective management, and biomarkers provide a promising approach to identifying traumatic brain injury in various settings. This study investigates the perceived usefulness of [...] Read more.
Traumatic brain injury is a significant global health issue, affecting approximately 69 million people annually. Early diagnosis is crucial for effective management, and biomarkers provide a promising approach to identifying traumatic brain injury in various settings. This study investigates the perceived usefulness of biomarker testing in two distinct contexts: emergency departments and sports settings. Comprehensive interviews were conducted among healthcare professionals in emergency departments and sports-related medical staff. The interviews assessed their perceptions of the diagnostic accuracy, practicality, and overall value of traumatic brain injury biomarker testing. The findings indicate that the perceived usefulness of biomarker testing is high among professionals in both settings. However, significant differences emerged in the perceived barriers to implementation, with emergency department staff citing logistical issues and sports professionals expressing cost concerns. Addressing identified barriers could enhance the adoption and effectiveness of these tests, ultimately improving patient outcomes. Future research should focus on optimizing testing protocols and reducing implementation challenges. This study aims to evaluate the implementation of mild traumatic brain injury biomarkers within the framework of value-based health care, focusing on diagnostic accuracy and patient outcomes. Full article
(This article belongs to the Special Issue Advances in Diagnosis, Pathophysiology, and Therapy of Brain Injury)
Show Figures

Figure 1

13 pages, 233 KiB  
Article
Gynecological Laparoscopic Surgeries under Spinal Anesthesia: Benefits and Challenges
by Attila L. Major, Kudrat Jumaniyazov, Ruslan Jabbarov, Mehdi Razzaghi and Ivanna Mayboroda
J. Pers. Med. 2024, 14(6), 633; https://doi.org/10.3390/jpm14060633 - 14 Jun 2024
Viewed by 220
Abstract
Objective: This prospective study investigated the feasibility of performing laparoscopic pelvic surgery under spinal anesthesia and analyzed the intraoperative side effects, like pain, nausea, and vomitus, of 915 patients. Methods: The implementation and performance of laparoscopic surgery under local anesthesia on 915 patients [...] Read more.
Objective: This prospective study investigated the feasibility of performing laparoscopic pelvic surgery under spinal anesthesia and analyzed the intraoperative side effects, like pain, nausea, and vomitus, of 915 patients. Methods: The implementation and performance of laparoscopic surgery under local anesthesia on 915 patients (out of a total of 3212 who underwent laparoscopic pelvic surgery under spinal anesthesia) were analyzed in relation to BMI (body mass index), obesity, pain during surgery, amount of intraperitoneal mmHg CO2 gas pressure, and surgical complications. Results: BMI > 30, intra-abdominal adhesions, increased duration of the operation, bleeding, and increased intraperitoneal CO2 pressure were statistically significant as the main causes of pain during laparoscopic surgery under spinal anesthesia. Underweight patients, on the other hand, had less pain when intra-abdominal pressure increased compared to those of normal weight. The appearance of pain, nausea, and vomitus occurred in 10.3% of patients, and these events were easy to manage and treat. They did not affect the surgeon’s work or the course of the operation. Conclusions: In light of these observations, we are proposing spinal anesthesia for laparoscopic surgery as the first choice in patients who have no contraindications. To the best of our knowledge, this clinical study constitutes the largest clinical observation and dataset concerning spinal anesthesia in laparoscopic pelvic surgery. Trial registration: ISRCTN38987, 10 December 2019. Full article
12 pages, 376 KiB  
Article
The Association between Autism Spectrum Disorder and Precocious Puberty: Considering Effect Modification by Sex and Neuropsychiatric Comorbidities
by Yi-Chun Liu, Yin-To Liao, Mei-Hong Wen, Vincent Chin-Hung Chen and Yi-Lung Chen
J. Pers. Med. 2024, 14(6), 632; https://doi.org/10.3390/jpm14060632 - 13 Jun 2024
Viewed by 184
Abstract
Limited knowledge is available about the association between autistic spectrum disorder (ASD) and precocious puberty. Our study examined the association between the two medical conditions and effect modification by sex and neuropsychiatric comorbidities in a nationwide population. To compare the risk of precocious [...] Read more.
Limited knowledge is available about the association between autistic spectrum disorder (ASD) and precocious puberty. Our study examined the association between the two medical conditions and effect modification by sex and neuropsychiatric comorbidities in a nationwide population. To compare the risk of precocious puberty between ASD and non-ASD cases, we conducted a Cox regression analysis using ASD as the exposure and time to precocious puberty as the outcome. We adjusted for sex, attention-deficit/hyperactivity disorder (ADHD), tic disorder, obsessive–compulsive disorder (OCD), anxiety disorder, intellectual disability, and epilepsy. We performed a moderation analysis to examine the potential moderating effects of sex and comorbidities. Patients with ASD were prone to have precocious puberty, with an adjusted hazard ratio (aHR) of 1.80 (95% CI: 1.61–2.01). For effect modification, sex, specifically females, moderated the association between ASD and precocious puberty, with a relative excess risk due to interaction (RERI) of 7.35 (95% CI 4.90–9.80). No significant effect modification was found for any of the comorbidities within the scope of additive effect modification. We found that patients with ASD were prone to precocious puberty, regardless of sex or comorbid neuropsychiatric disorders. Girls with ASD are at a particularly higher risk of developing precocious puberty. Full article
(This article belongs to the Section Sex, Gender and Hormone Based Medicine)
21 pages, 314 KiB  
Article
Surgical Management of Patients with Parotid Involvement from Non-Melanoma Skin Cancer of the Head and Neck
by Filippo Carta, Simone Corrias, Melania Tatti, Valeria Marrosu, Mauro Bontempi, Cinzia Mariani, Clara Gerosa, Caterina Ferreli, Matteo Atzeni, Filippo Boriani, Andrea Figus and Roberto Puxeddu
J. Pers. Med. 2024, 14(6), 631; https://doi.org/10.3390/jpm14060631 - 13 Jun 2024
Viewed by 185
Abstract
We conducted a retrospective, longitudinal study on a single-center series of patients who underwent parotidectomy in the management of advanced head and neck non-melanoma skin cancer (hnNMSC). The aim of this study was to identify prognostic factors associated with worse outcomes. Forty-one men [...] Read more.
We conducted a retrospective, longitudinal study on a single-center series of patients who underwent parotidectomy in the management of advanced head and neck non-melanoma skin cancer (hnNMSC). The aim of this study was to identify prognostic factors associated with worse outcomes. Forty-one men and nine women were included. The mean age at the time of surgery was 78.9 years. The 5-year overall survival, disease-specific survival, locoregional recurrence-free survival, and distant metastasis-free survival calculated with Kaplan–Meier curves were 39.9%, 56.3%, 58.6%, and 82.1%, respectively. A univariate analysis showed that the status of the margins, facial nerve direct involvement, lymph vascular invasion, and histological grading were associated with worse outcomes (p < 0.05). Positive margins were associated with worse disease-specific survival also in a multivariate analysis (p = 0.001, HR = 32.02, and CIs 4.338 to 351.3). Because the resection in free margins is the most important prognostic factor, early diagnosis or, in the case of advanced disease, extensive surgical resection with concomitant reconstruction is needed. Adjuvant therapy is indicated in selected cases. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
9 pages, 424 KiB  
Article
Ultrasonographic Synovitis Is Associated with the Development of Joint Destruction in Patients with Psoriatic Arthritis
by Yutaro Yamada, Kentaro Inui, Koji Mandai, Kenji Mamoto, Tatsuya Koike, Chiharu Tateishi, Daisuke Tsuruta and Tadashi Okano
J. Pers. Med. 2024, 14(6), 630; https://doi.org/10.3390/jpm14060630 - 13 Jun 2024
Viewed by 188
Abstract
Background: Psoriatic arthritis (PsA) is characterized by enthesitis. As persistent inflammation around joints results in bone and cartilage destruction and physical impairment, a detailed assessment of inflammation is essential. We previously reported the difference between clinical assessment (tenderness) and ultrasound (US) assessment (inflammation) [...] Read more.
Background: Psoriatic arthritis (PsA) is characterized by enthesitis. As persistent inflammation around joints results in bone and cartilage destruction and physical impairment, a detailed assessment of inflammation is essential. We previously reported the difference between clinical assessment (tenderness) and ultrasound (US) assessment (inflammation) of entheses. Herein, we investigated whether clinical or US assessment of joints and entheses can predict the progression of joint destruction in Japanese patients with PsA. Methods: Thirty joints and 14 entheses in 47 patients were assessed using US and clinical examination. The US greyscale (GS) and power Doppler (PD) scores at the ultrasonographic synovitis, the US active enthesitis count, and the clinical tender joint/entheses count were assessed. Additionally, the yearly radiographic progression of the Sharp–van der Heijde scoring method for PsA was assessed. Their correlations were investigated. Results: About half of the patients with PsA experienced joint destruction during a follow-up period of 20.4 months. Progression of joint destruction in patients with PsA only correlated with joint GS and PD scores, reflecting the severity of ultrasonographic synovitis, not with the tender joint/entheses count. Conclusions: US examinations are essential for preventing joint destruction and physical impairment in patients with PsA. Full article
Show Figures

Figure 1

9 pages, 701 KiB  
Article
Evaluating the Impact of Reminiscence Therapy on Cognitive and Emotional Outcomes in Dementia Patients
by Nobuhiko Yanagida, Takumi Yamaguchi and Yuko Matsunari
J. Pers. Med. 2024, 14(6), 629; https://doi.org/10.3390/jpm14060629 - 13 Jun 2024
Viewed by 228
Abstract
This study examines the impact of reminiscence therapy on cognitive and emotional well-being in institutionalized older patients with dementia. Conducted at the Long-Term Care Health Facility for the Elderly, the research involved 34 participants who underwent therapy sessions that included personalized discussions of [...] Read more.
This study examines the impact of reminiscence therapy on cognitive and emotional well-being in institutionalized older patients with dementia. Conducted at the Long-Term Care Health Facility for the Elderly, the research involved 34 participants who underwent therapy sessions that included personalized discussions of past experiences. Using physiological markers such as electroencephalography alpha and beta waves, along with psychological measures such as the Hasegawa Dementia Scale—Revised, the study aimed to quantify the effects of the therapy. Although the results indicated positive correlations between alpha and beta waves, suggesting enhanced relaxation and cognitive engagement, improvements in Hasegawa Dementia Scale—Revised scores were not statistically significant, pointing to variability in therapeutic effectiveness among patients. Despite these mixed outcomes, the findings support the potential of reminiscence therapy as a non-pharmacological intervention to improve the quality of life of dementia patients, though they also underscore the necessity for further research to refine therapy protocols and enhance applicability. Full article
(This article belongs to the Section Disease Biomarker)
Show Figures

Figure 1

18 pages, 1721 KiB  
Article
Sequence Alignment between TRIM33 Gene and Human Noncoding RNAs: A Potential Explanation for Paraneoplastic Dermatomyositis
by Rossella Talotta
J. Pers. Med. 2024, 14(6), 628; https://doi.org/10.3390/jpm14060628 - 13 Jun 2024
Viewed by 268
Abstract
Background: This computational analysis investigated sequence complementarities between the TRIM33 gene and human noncoding (nc)RNAs and characterized their interactions in the context of paraneoplastic dermatomyositis. Methods: TRIM33 FASTA sequence (NCBI Reference Sequence: NC_000001.11) was used for BLASTN analysis against Human GRCh38 in the [...] Read more.
Background: This computational analysis investigated sequence complementarities between the TRIM33 gene and human noncoding (nc)RNAs and characterized their interactions in the context of paraneoplastic dermatomyositis. Methods: TRIM33 FASTA sequence (NCBI Reference Sequence: NC_000001.11) was used for BLASTN analysis against Human GRCh38 in the Ensembl.org database. Retrieved ncRNAs showing hits to TRIM33 were searched in the GeneCards.org database and further analyzed through RNAInter, QmRLFS-finder, Spliceator, and NcPath enrichment analysis. Results: A total of 100 hits were found, involving the lncRNAs NNT-AS1, MKLN1-AS, LINC01206, and PAXBP1-AS1, whose dysregulation has been reported in either cancer or dermatomyositis. Additionally, the lncRNAs NNT-AS1 and PAXBP1-AS1 may interact with microRNA-142-3p, reducing its expression and increasing that of TRIM33. Sequence complementarity affected only TRIM33 intron 1, possibly resulting in alternatively spliced isoforms of TIF1γ with increased immunogenicity. The results also revealed nucleotide alignment between TRIM33 and the gene regulatory elements of 28 ncRNA genes involved in immune pathways. Conclusions: This pivotal study demonstrates sequence complementarity between TRIM33 and human ncRNAs dysregulated in cancer and dermatomyositis. This scenario may lead to the overproduction of more immunogenic TIF1γ variants in tumors and the stimulation of autoimmunity. Further experimental analyses using targeted methods such as Western blot or Chip-Seq are required to confirm these data. Full article
(This article belongs to the Special Issue Current Trends and Future Challenges in Rheumatology)
Show Figures

Figure 1

11 pages, 269 KiB  
Article
Ultrasound Examination of Common Carotid Adventitial Thickness Can Differentiate Takayasu Arteritis and Large Vessel Giant Cell Arteritis
by Pierluigi Macchioni, Giuseppe Germanò, Nicolò Girolimetto, Giulia Klinowski, Letizia Gavioli, Francesco Muratore, Alessia Laneri, Caterina Ricordi, Chiara Marvisi, Luca Magnani and Carlo Salvarani
J. Pers. Med. 2024, 14(6), 627; https://doi.org/10.3390/jpm14060627 - 12 Jun 2024
Viewed by 231
Abstract
Pathological studies have demonstrated that the adventitial layer is markedly thickened in Takayasu (TAK) as compared to large vessel giant cell arteritis (LV-GCA). An ultrasound (US) examination of the arterial vessels allows the determination of intima media thickness (IMT) and of adventitial layer [...] Read more.
Pathological studies have demonstrated that the adventitial layer is markedly thickened in Takayasu (TAK) as compared to large vessel giant cell arteritis (LV-GCA). An ultrasound (US) examination of the arterial vessels allows the determination of intima media thickness (IMT) and of adventitial layer thickness (extra media thickness (EMT)). No previous study has evaluated if there are differences in EMT thickness between TAK and LV-GCA. In this cross-sectional retrospective study of stored ultrasound (US) imaging, we have compared common carotid artery (CCA) EMT and IMT in a series of consecutive TAK and LV-GCA patients. US examination CCA IMT and EMT were significantly higher in TAK as compared to LV-GCA. With ROC curve analysis, we have found that an EMT > 0.76 mm has high sensitivity and specificity for TAK CCA examination. The percentage of CCA at EMT > 0.76 mm and the total arterial wall thickening were significantly higher in TAK group examinations. EMT thickness correlated with disease duration and IMT in the TAK group, as well as with the IMT and ESR values in the LV-GCA group. Upon multivariate logistic regression analysis, factors independently associated with TAK CCA were EMT > 0.76 mm and age. No significant variation in IMT and EMT could be demonstrated in subsequent US CCA examinations. Full article
(This article belongs to the Special Issue Current Trends and Future Challenges in Rheumatology)
14 pages, 1543 KiB  
Article
El Hierro Genome Study: A Genomic and Health Study in an Isolated Canary Island Population
by Marta Puga, Javier G. Serrano, Elsa L. García, Mario A. González Carracedo, Rubén Jiménez-Canino, María Pino-Yanes, Robert Karlsson, Patrick F. Sullivan and Rosa Fregel
J. Pers. Med. 2024, 14(6), 626; https://doi.org/10.3390/jpm14060626 - 12 Jun 2024
Viewed by 271
Abstract
El Hierro is the smallest and westernmost island of the Canary Islands, whose population derives from an admixture of different ancestral components and that has been subjected to genetic isolation. We established the “El Hierro Genome Study” to characterize the health status and [...] Read more.
El Hierro is the smallest and westernmost island of the Canary Islands, whose population derives from an admixture of different ancestral components and that has been subjected to genetic isolation. We established the “El Hierro Genome Study” to characterize the health status and the genetic composition of ~10% of the current population of the island, accounting for a total of 1054 participants. Detailed demographic and clinical data and a blood sample for DNA extraction were obtained from each participant. Genomic genotyping was performed with the Global Screening Array (Illumina). The genetic composition of El Hierro was analyzed in a subset of 416 unrelated individuals by characterizing the mitochondrial DNA (mtDNA) and Y-chromosome haplogroups and performing principal component analyses (PCAs). In order to explore signatures of isolation, runs of homozygosity (ROHs) were also estimated. Among the participants, high blood pressure, hypercholesterolemia, and diabetes were the most prevalent conditions. The most common mtDNA haplogroups observed were of North African indigenous origin, while the Y-chromosome ones were mainly European. The PCA showed that the El Hierro population clusters near 1000 Genomes’ European population but with a shift toward African populations. Moreover, the ROH analysis revealed some individuals with an important portion of their genomes with ROHs exceeding 400 Mb. Overall, these results confirmed that the “El Hierro Genome” cohort offers an opportunity to study the genetic basis of several diseases in an unexplored isolated population. Full article
(This article belongs to the Section Omics/Informatics)
Show Figures

Figure 1

12 pages, 5123 KiB  
Review
Combined Endovascular and Endoscopic Management of a Secondary Aortoesophageal Fistula after Open Surgical Aortic Repair in a Giant Descending Thoracic Aortic Pseudoaneurysm: Case Report and Review of Literature
by Ovidiu Stiru, Reza Nayyerani, Mircea Robu, Roxana Carmen Geana, Petru Razvan Dragulescu, Oana Andreea Blibie, Serban-Ion Bubenek-Turconi, Vlad Anton Iliescu and Catalina Parasca
J. Pers. Med. 2024, 14(6), 625; https://doi.org/10.3390/jpm14060625 - 11 Jun 2024
Viewed by 393
Abstract
Secondary aortoesophageal fistula (AEF) is defined as a communication between the aorta and the esophagus, occurring after aortic disease treatment or esophageal procedures, associating very high mortality rates with treatment and being fatal without it. Several treatment strategies have been described in the [...] Read more.
Secondary aortoesophageal fistula (AEF) is defined as a communication between the aorta and the esophagus, occurring after aortic disease treatment or esophageal procedures, associating very high mortality rates with treatment and being fatal without it. Several treatment strategies have been described in the literature, combining open surgery or endovascular aortic repair with surgical or endoscopic management of the esophageal lesion. We present the case of a 53-year-old patient with a history of open aortic surgery for a giant descending thoracic aortic pseudoaneurysm complicated with secondary AEF, successfully managed using emergency transiliac TEVAR (thoracic endovascular aortic repair), extensive antibiotic therapy associated with nutritional replenishment, and rehabilitation therapy. Novel endovascular and endoscopic devices have been developed, offering less invasive treatment strategies with improved outcomes, especially for high risk surgical patients. This case highlights the importance of a multidisciplinary approach to personalized medicine to manage such complex situations. Full article
(This article belongs to the Special Issue Current Updates on Cardiovascular Diseases in Emergency Medicine)
Show Figures

Figure 1

Previous Issue
Back to TopTop