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J. Pers. Med., Volume 14, Issue 6 (June 2024) – 93 articles

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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 96
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)
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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 89
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)
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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 129
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)
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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 110
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)
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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 122
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)
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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 129
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 129
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 127
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 127
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
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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 158
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)
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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 211
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)
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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 198
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, 1595 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 192
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)
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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 335
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)
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11 pages, 971 KiB  
Article
To Assess or Not to Assess: Reconsidering Day 3 Embryo Quality in Planned Freeze-All Blastocyst Cycles
by Alessandro Bartolacci, Daria Marzanati, Beatrice Maria Barbagallo, Lisett Solano Narduche, Giulia D’Alessandro, Stefania Esposito, Valeria Stella Vanni, Rossella Masciangelo, Davide Gentilini, Enrico Papaleo and Luca Pagliardini
J. Pers. Med. 2024, 14(6), 624; https://doi.org/10.3390/jpm14060624 - 11 Jun 2024
Viewed by 360
Abstract
Day 3 embryo quality is a predictor of in vitro fertilization (IVF) success rates in cleavage-stage embryo transfer. However, the association between day 3 embryo quality and clinical outcomes in blastocyst transfer policy is largely unknown. This retrospective study included 1074 frozen–thawed single [...] Read more.
Day 3 embryo quality is a predictor of in vitro fertilization (IVF) success rates in cleavage-stage embryo transfer. However, the association between day 3 embryo quality and clinical outcomes in blastocyst transfer policy is largely unknown. This retrospective study included 1074 frozen–thawed single day 5/6 blastocyst transfers between January 2019 and December 2022. Three groups were assessed depending on whether the transferred blastocyst derived from a top-quality, good-quality, or poor-quality embryo at day 3. The analysis was conducted independently for each blastocyst quality group (top, good, and poor) using multivariable logistic regression. We applied a Factorial Analysis of Mixed Data (FAMD) to reduce the potential collinearity between the covariates used in the model. All the blastocysts included in this study were obtained from the first ICSI freeze-all cycles. The cleavage and blastocysts stages were assessed between 67 ± 0.5 (day 3), 115 ± 0.5 (day 5), and 139 ± 0.5 (day 6) hours post-insemination (hpi), respectively. After adjusting for the day of transfer (day 5 or day 6) and FAMD dimensions, no statistical differences in a β-HCG, clinical pregnancy, and live birth were observed among the same-quality blastocysts derived from different day 3 embryo quality groups (top = A, good = B, and poor = C). Our findings showed that a day 3 embryo quality assessment may be unnecessary in planned freeze-all blastocyst cycles. Full article
(This article belongs to the Special Issue Current Trends and Future Challenges in Assisted Reproduction)
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9 pages, 1966 KiB  
Article
Dent’s Disease: A Cause of Monogenic Kidney Stones and Nephrocalcinosis
by Lucía Diéguez, Melissa Pilco, Sofía Butori, Andrés Kanashiro, Josep Balaña, Esteban Emiliani, Bhaskar K. Somani and Oriol Angerri
J. Pers. Med. 2024, 14(6), 623; https://doi.org/10.3390/jpm14060623 - 11 Jun 2024
Viewed by 263
Abstract
Kidney stones are becoming increasingly common, affecting up to 10% of adults. A small percentage are of monogenic origin, such as Dent’s disease (DD). DD is a syndrome that causes low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and nephrocalcinosis. It is X-linked, and most patients have [...] Read more.
Kidney stones are becoming increasingly common, affecting up to 10% of adults. A small percentage are of monogenic origin, such as Dent’s disease (DD). DD is a syndrome that causes low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and nephrocalcinosis. It is X-linked, and most patients have mutations in the CLCN5 gene. We performed a review of the literature and evaluated the case series (n = 6) of a single center in Spain, reviewing the natural evolution of kidney stones, clinical implications, laboratory analyses, radiological development, and treatment. All patients had a genetically confirmed diagnosis, with the CLCN5 mutation being the most frequent (66%). All patients had proteinuria and albuminuria, while only two and three presented hypercalciuria and phosphate abnormalities, respectively. Only one patient did not develop lithiasis, with most (60%) requiring extracorporeal shock wave lithotripsy or surgery during follow-up. Most of the patients are under nephrological follow-up, and two have either received a renal transplant or are awaiting one. The management of these patients is similar to that with lithiasis of non-monogenic origin, with the difference that early genetic diagnosis can help avoid unnecessary treatments, genetic counseling can be provided, and some monogenic kidney stones may benefit from targeted treatments. Full article
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14 pages, 994 KiB  
Review
Complications of Pelvic Prolapse Surgery Using Mesh: A Systematic Review
by Alexandru Dabica, Oana Balint, Flavius Olaru, Cristina Secosan, Ligia Balulescu, Simona Brasoveanu, Marilena Pirtea, Diana Popin, Ioana Flavia Bacila and Laurentiu Pirtea
J. Pers. Med. 2024, 14(6), 622; https://doi.org/10.3390/jpm14060622 - 11 Jun 2024
Viewed by 378
Abstract
Background: Pelvic organ prolapse (POP) is a public health problem that influences millions of women around the globe, and it has a significant impact on the quality of life. From the FDA statement regarding the complications of using mesh implants in POP surgery [...] Read more.
Background: Pelvic organ prolapse (POP) is a public health problem that influences millions of women around the globe, and it has a significant impact on the quality of life. From the FDA statement regarding the complications of using mesh implants in POP surgery to studies that have shown the benefits and side effects, we conducted a systematic review investigating the complications associated with surgical mesh implantation for POP repair. Methods: Relevant studies were identified through a comprehensive search of scientific databases. Studies evaluating the use of mesh in POP surgery and reporting on associated complications were included. Results: Among 2816 studies, 28 studies met the research criteria, with a total number of 8958 patients, revealing that in laparoscopic mesh surgery, the rate of mesh exposure was lower compared to vaginal mesh surgery, among other complications. Conclusions: Laparoscopic mesh surgery is superior as a long-term approach for POP repair compared to vaginal mesh surgery, offering lower complication rates and potentially better anatomical success. However, vaginal mesh surgery remains a valuable option for patients who are unsuitable for laparoscopy due to specific factors. Future research should explore alternative techniques, like pectopexy with or without mesh, to further improve surgical outcomes and patient experience. Full article
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12 pages, 281 KiB  
Article
Comparative Analysis of Frailty Scores for Predicting Adverse Outcomes in Hip Fracture Patients: Insights from the United States National Inpatient Sample
by Maximilian Peter Forssten, Yang Cao, Ahmad Mohammad Ismail, Lakshika Tennakoon, David A. Spain and Shahin Mohseni
J. Pers. Med. 2024, 14(6), 621; https://doi.org/10.3390/jpm14060621 - 10 Jun 2024
Viewed by 321
Abstract
The aim of the current investigation was to compare the ability of several frailty scores to predict adverse outcomes in hip fracture patients. All adult patients (18 years or older) who suffered a hip fracture due to a fall and underwent surgical fixation [...] Read more.
The aim of the current investigation was to compare the ability of several frailty scores to predict adverse outcomes in hip fracture patients. All adult patients (18 years or older) who suffered a hip fracture due to a fall and underwent surgical fixation were extracted from the 2019 National Inpatient Sample (NIS) Database. A combination of logistic regression and bootstrapping was used to compare the predictive ability of the Orthopedic Frailty Score (OFS), the Nottingham Hip Fracture Score (NHFS), the 11-factor modified Frailty Index (11-mFI) and 5-factor (5-mFI) modified Frailty Index, as well as the Johns Hopkins Frailty Indicator. A total of 227,850 patients were extracted from the NIS. In the prediction of in-hospital mortality and failure-to-rescue (FTR), the OFS surpassed all other frailty measures, approaching an acceptable predictive ability for mortality [AUC (95% CI): 0.69 (0.67–0.72)] and achieving an acceptable predictive ability for FTR [AUC (95% CI): 0.70 (0.67–0.72)]. The NHFS demonstrated the highest predictive ability for predicting any complication [AUC (95% CI): 0.62 (0.62–0.63)]. The 11-mFI exhibited the highest predictive ability for cardiovascular complications [AUC (95% CI): 0.66 (0.64–0.67)] and the NHFS achieved the highest predictive ability for delirium [AUC (95% CI): 0.69 (0.68–0.70)]. No score succeeded in effectively predicting venous thromboembolism or infections. In summary, the investigated frailty scores were most effective in predicting in-hospital mortality and failure-to-rescue; however, they struggled to predict complications. Full article
(This article belongs to the Special Issue Personalized Management in Orthopedics and Traumatology)
11 pages, 963 KiB  
Article
Aerodynamic Study of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome
by Salvatore Allosso, Massimo Mesolella, Giovanni Motta, Giuseppe Quaremba, Rosaria Parrella, Martina Ricciardiello and Sergio Motta
J. Pers. Med. 2024, 14(6), 620; https://doi.org/10.3390/jpm14060620 - 10 Jun 2024
Viewed by 334
Abstract
Objectives: We aim to verify velopharyngeal sphincter function in 22q11.2 deletion syndrome patients (22q11.2DS) to establish correlations between aerodynamic and perceptual measures of nasality, and to identify aerodynamic measures differentiating typical from atypical velopharyngeal behavior. Methods: Eleven subjects with 22q11.2DS and twenty similar-age [...] Read more.
Objectives: We aim to verify velopharyngeal sphincter function in 22q11.2 deletion syndrome patients (22q11.2DS) to establish correlations between aerodynamic and perceptual measures of nasality, and to identify aerodynamic measures differentiating typical from atypical velopharyngeal behavior. Methods: Eleven subjects with 22q11.2DS and twenty similar-age control subjects were recruited. The aerodynamic measures were mean Sound Pressure Level, air pressure peak, pressure wave duration, airflow pattern and nasal airflow during the sequence /pi/. The nasality perceptual measures were rhinolalia, rhinophony and nasal air escape. Results: Airflow patterns and perceptual measures were statistically different in the two groups. Pressure wave duration and air pressure peak were lower in study subjects than in controls. Air pressure peak and nasal airflow were negatively correlated with rhinolalia; pressure wave duration was negatively correlated with nasal air escape and rhinolalia in 22q11.2DS patients. Conclusions: This aerodynamic study identified velopharyngeal qualitative and quantitative dysfunctions, suggesting heterogeneous models of velopharyngeal function in syndromic subjects as compared to controls. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
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23 pages, 8438 KiB  
Article
Therapeutic Effects of Engineered Exosomes from RAW264.7 Cells Overexpressing hsa-let-7i-5p against Sepsis in Mice—A Comparative Study with Human Placenta-Derived Mesenchymal Stem Cell Exosomes
by Van Long Le, Chao-Yuan Chang, Ching-Wei Chuang, Syuan-Hao Syu, Hung-Jen Shih, Hong-Phuc Nguyen Vo, Minh Nguyen Van and Chun-Jen Huang
J. Pers. Med. 2024, 14(6), 619; https://doi.org/10.3390/jpm14060619 - 9 Jun 2024
Viewed by 334
Abstract
This study compared the therapeutic effects of engineered exosomes derived from RAW264.7 cells overexpressing hsa-let-7i-5p (engineered exosomes) to exosomes from human placenta-derived mesenchymal stem cells (hpMSC exosomes) against sepsis-induced acute lung injury. Adult male C57BL/6 mice were divided into lipopolysaccharide (LPS), LPS plus [...] Read more.
This study compared the therapeutic effects of engineered exosomes derived from RAW264.7 cells overexpressing hsa-let-7i-5p (engineered exosomes) to exosomes from human placenta-derived mesenchymal stem cells (hpMSC exosomes) against sepsis-induced acute lung injury. Adult male C57BL/6 mice were divided into lipopolysaccharide (LPS), LPS plus engineered exosome (LEExo), or LPS plus hpMSC exosome (LMExo) groups, alongside control groups. The results showed that lung injury scores (based on pathohistological characteristics) and the levels of lung function alterations, tissue edema, and leukocyte infiltration in LEExo and LMExo groups were comparable and significantly lower than in the LPS group (all p < 0.05). Furthermore, the levels of inflammation (nuclear factor-κB activation, cytokine upregulation), macrophage activation (hypoxia-inducible factor-1α activation, M1 phase polarization), oxidation, and apoptosis were diminished in LEExo and LMExo groups compared to the LPS group (all p < 0.05). Inhibition of hsa-let-7i-5p attenuated the therapeutic effects of both engineered and hpMSC exosomes. These findings underscore the potent therapeutic capacity of engineered exosomes enriched with hsa-let-7i-5p and their potential as an alternative to hpMSC exosomes for sepsis treatment. Continued research into the mechanisms of action and optimization of engineered exosomes could pave the way for their future clinical application. Full article
(This article belongs to the Section Personalized Critical Care)
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10 pages, 688 KiB  
Article
Sleep Apnea and Atrial Fibrillation: Clinical Features and Screening Diagnostic Options
by Azamat Maratovich Baymukanov, Yuliya Dmitrievna Weissman, Irina Andreevna Bulavina, Ilya Leonidovich Ilyich and Sergey Arturovich Termosesov
J. Pers. Med. 2024, 14(6), 618; https://doi.org/10.3390/jpm14060618 - 9 Jun 2024
Viewed by 226
Abstract
Introduction: Obstructive sleep apnea (OSA) is associated with an increased risk of hypertension, coronary artery disease, heart failure (HF), and atrial fibrillation (AF). Materials and methods: A total of 179 patients aged 34–81 years were included in the study. The median age was [...] Read more.
Introduction: Obstructive sleep apnea (OSA) is associated with an increased risk of hypertension, coronary artery disease, heart failure (HF), and atrial fibrillation (AF). Materials and methods: A total of 179 patients aged 34–81 years were included in the study. The median age was 63 years (interquartile range: 56–69 years). Of these patients, 105 (58.7%) were men, and 74 (41.3%) were women; there were cases of paroxysmal (n = 99), persistent (n = 64), and permanent AF (n = 16). All patients underwent investigations including respiratory sleep monitoring, echocardiography, and 24 h Holter electrocardiography monitoring. Statistical analyses were performed using IBM SPSS Statistics 26.0. Results: OSA was detected in 131 (73.2%) patients. In patients with OSA, paroxysmal AF was commonest (n = 65), followed by persistent AF (n = 51) and permanent AF (n = 15). The patients with sleep apnea had increased body mass index (33.6 kg/m2; p = 0.02), waist circumference (114 cm; p < 0.001), and neck circumference (42 cm; p < 0.001) values. HF (OR 2.9; 95% CI: 1.4–5.9; p = 0.004) and type 2 diabetes (OR 3.6; 95% CI: 1.5–8.3; p = 0.001) were more common in patients with AF and OSA. The STOP-BANG scale (AUC = 0.706 ± 0.044; 95% CI: 0.619–0.792; p < 0.001) and the Berlin questionnaire (AUC = 0.699 ± 0.044; 95% CI: 0.614–0.785) had a higher predictive ability for identifying sleep apnea. Conclusions: Patients with AF demonstrate a high prevalence of OSA and an increased association with cardiovascular comorbidities. The STOP-BANG scale and the Berlin questionnaire can be used to screen for OSA in patients with AF. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
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9 pages, 8974 KiB  
Article
Local Perineal Capillary Perforator Flaps: A Minimally Invasive Technique for the Correction of Vulvar Stenosis
by Anna Amelia Caretto, Giorgia Garganese, Simona Maria Fragomeni, Luca Tagliaferri, Bruno Fionda, Giovanni Scambia and Stefano Gentileschi
J. Pers. Med. 2024, 14(6), 617; https://doi.org/10.3390/jpm14060617 - 8 Jun 2024
Viewed by 213
Abstract
Background: Vulvar stenosis is a debilitating condition that compromises sexual function, urination, and the ability to undergo gynecological examinations. The purpose of this study is to describe the technique of capillary perforator perineal flaps (CPPF) for the correction of vulvar stenosis. Methods: We [...] Read more.
Background: Vulvar stenosis is a debilitating condition that compromises sexual function, urination, and the ability to undergo gynecological examinations. The purpose of this study is to describe the technique of capillary perforator perineal flaps (CPPF) for the correction of vulvar stenosis. Methods: We retrospectively examined patients with vulvar stenosis treated through surgical separation and reconstruction with CPPF. The procedure involved vulvar separation with the creation of a subsequent defect, repaired using a flap, harvested laterally to the labia majora including a capillary perforator and transferred through a subcutaneous tunnel to repair the vulvar defect. The functional outcome was evaluated with the Bradford scale, comparing the preoperative and postoperative scores using the Student’s t-test. Results: thirteen patients were included, three with stenosis following treatment for vulvar cancer and ten due to lichen sclerosus. In total, we analyzed 29 flaps, with an average size of 15.6 cm2. We always included just one perforator in the flap and no postoperative complications. Stenosis was resolved in all patients, with no recurrences one year after the surgery. The preoperative average severity of the stenosis was 2.3 + 0.6, reducing to 0.3 + 0.4 post-intervention, indicating a significant improvement (p < 0.01). Conclusions: CPPF has proven to be a quick and safe method for the reconstruction of vulvar stenosis. Full article
(This article belongs to the Section Sex, Gender and Hormone Based Medicine)
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10 pages, 715 KiB  
Article
Characteristics of Patients with Sarcoidosis with Emphasis on Acute vs. Chronic Forms—A Single Center Experience
by Mihailo Stjepanovic, Nikola Maric, Slobodan Belic, Jelena Milin-Lazovic, Natasa Djurdjevic, Jelena Jankovic, Masa Petrovic, Jovan Peric, Ivan Tulic, Jelena Cvejic, Spasoje Popevic, Sanja Dimic Janjic and Violeta Mihailovic Vucinic
J. Pers. Med. 2024, 14(6), 616; https://doi.org/10.3390/jpm14060616 - 8 Jun 2024
Viewed by 323
Abstract
Sarcoidosis is a granulomatous disease of unknown etiology that can affect almost any organ. Although the acute form can have spontaneous regression, a certain number of patients can have a chronic form, which leads to an increase in mortality and a decrease in [...] Read more.
Sarcoidosis is a granulomatous disease of unknown etiology that can affect almost any organ. Although the acute form can have spontaneous regression, a certain number of patients can have a chronic form, which leads to an increase in mortality and a decrease in the quality of life. Considering that the risk factors are still unknown, we wanted to compare the characteristics of patients with acute and chronic forms of sarcoidosis in Serbia in order to determine significant differences between them with hopes of contributing to everyday clinical practice. A total of 2380 patients treated in our clinic were enrolled in this study. They were separated into the following two groups: 1126 patients with acute form and 1254 patients with chronic form. They were further compared by gender, smoking status, radiological status, exposition, biomarkers for sarcoidosis, organ involvement, and other comorbidities; the distribution of patients according to regions of Serbia was also noted. Statistical significance was found in radiological findings (p < 0.001), biomarkers (calcium in 24 h urine p < 0.001; chitotriosidase p = 0.001), and the affliction of organs (p < 0.001). The differences noted in this paper could help improve our understanding of this disease. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
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10 pages, 857 KiB  
Article
The Relationship between Seropositive Rheumatoid Arthritis and Congestive Heart Failure: A Nationwide Longitudinal Cohort Study in Korea
by Yeo Song Kim, Je Beom Hong, Hakyung Kim, Seung Hun Sheen, In-bo Han, Jeong Gyun Kim, Sin Soo Jeun and Seil Sohn
J. Pers. Med. 2024, 14(6), 615; https://doi.org/10.3390/jpm14060615 - 8 Jun 2024
Viewed by 314
Abstract
Objectives: The aim of this nationwide longitudinal cohort study is to determine the risk of congestive heart failure (CHF) associated with a seropositive rheumatoid arthritis (RA) population in Korea. Methods: In this study, National Health Insurance Service-Health Screening Cohort (NHIS-HEALS) data from 2002 [...] Read more.
Objectives: The aim of this nationwide longitudinal cohort study is to determine the risk of congestive heart failure (CHF) associated with a seropositive rheumatoid arthritis (RA) population in Korea. Methods: In this study, National Health Insurance Service-Health Screening Cohort (NHIS-HEALS) data from 2002 to 2003 were used. The cohort was followed up with for 12 years until December of 2015. Seropositive RA was defined as a patient prescribed with a disease-modifying anti-rheumatic drug (DMARD) among patients with the International Classification of Diseases code M05 (seropositive RA). Patients who were diagnosed before 2004 were excluded. The seropositive RA group consisted of 2765 patients, and a total of 13,825 patients were in the control group. The Kaplan–Meier method was used to calculate the 12-year CHF incidence rate for each group. A Cox proportional hazards regression analysis was used to estimate the hazard ratio of CHF. Results: The hazard ratio of CHF in the seropositive RA group was 2.41 (95% confidence interval (CI): 1.40–4.14) after adjusting for age and sex. The adjusted hazard ratio of CHF in the seropositive RA group was 2.50 (95% CI: 1.45–4.30) after adjusting for age, sex, income, and comorbidities. In females aged ≥65 and aged <65, the incidence rates in the non-hypertension, non-diabetes mellitus, and non-dyslipidemia subgroups were significantly higher in the seropositive RA group than in the control group. Conclusions: This nationwide longitudinal cohort study shows an increased risk of CHF in patients with seropositive RA. Full article
(This article belongs to the Section Epidemiology)
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13 pages, 565 KiB  
Article
The Relationship between Sense of Presence, Emotional Response, and Clinical Outcomes in Virtual Reality-Based Therapy for Treatment-Resistant Schizophrenia: An Exploratory Correlational Study
by Elischa Augustin, Mélissa Beaudoin, Sabrina Giguère, Hind Ziady, Kingsada Phraxayavong and Alexandre Dumais
J. Pers. Med. 2024, 14(6), 614; https://doi.org/10.3390/jpm14060614 - 8 Jun 2024
Viewed by 253
Abstract
Avatar therapy (AT) is a novel virtual reality-based psychotherapy that has been developed to treat auditory verbal hallucinations (AVH) in treatment-resistant schizophrenia. Various psychotherapeutic components, such as emotions and sense of presence, could contribute to clinical outcomes. However, the interplay between sense of [...] Read more.
Avatar therapy (AT) is a novel virtual reality-based psychotherapy that has been developed to treat auditory verbal hallucinations (AVH) in treatment-resistant schizophrenia. Various psychotherapeutic components, such as emotions and sense of presence, could contribute to clinical outcomes. However, the interplay between sense of presence, emotions, and clinical response has seldom been investigated. This study aimed to explore the relations between sense of presence, emotions, and clinical outcomes in AT. To conduct this investigation, data from previous and ongoing AT trials were used. Sense of presence and emotions were assessed using standardized questionnaires. AVH were evaluated using the Psychotic Symptom Rating Scales. While sense of presence was positively associated with positive emotions such as control and serenity, no significant associations were found for negative emotions. Moreover, a higher level of sense of presence was associated with a bigger decrease in AVH. Overall, positive emotions seem to be associated with sense of presence in AT. Sense of presence also seems to be involved in the therapeutic outcome, thereby suggesting that this could be an important component related to clinical response. More studies are needed to confirm these trends, which could be generalized to other virtual reality-based psychotherapies. Full article
(This article belongs to the Special Issue Psychiatry: Emerging Clinical Research in Personalized Medicine)
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12 pages, 1042 KiB  
Article
Prostate Artery Embolization (PAE) with Small Beads for the Treatment of Benign Prostatic Hyperplasia (BPH)
by Genti Xhepa, Lucilla Violetta Sciacqua, Andrea Vanzulli, Andrea Enzo Canì, Velio Ascenti, Alexis Ricoeur, Andrea Antonio Ianniello, Agostino Inzerillo, Paolo Nicotera, Filippo Del Grande, Anna Maria Ierardi and Gianpaolo Carrafiello
J. Pers. Med. 2024, 14(6), 613; https://doi.org/10.3390/jpm14060613 - 8 Jun 2024
Viewed by 227
Abstract
Benign Prostatic Hyperplasia (BPH) is the most frequent cause of Lower Urinary Tract Symptoms (LUTSs) in elderly populations. Minimally invasive treatments of BPH are safe and effective and are gaining popularity among both professionals and patients. Prostate Artery Embolization (PAE) has proven to [...] Read more.
Benign Prostatic Hyperplasia (BPH) is the most frequent cause of Lower Urinary Tract Symptoms (LUTSs) in elderly populations. Minimally invasive treatments of BPH are safe and effective and are gaining popularity among both professionals and patients. Prostate Artery Embolization (PAE) has proven to be effective in Trans-Urethral Resection of the Prostate (TURP) in terms of prostate volume reduction and LUTS relief. PAE entails the selective catheterization of the prostatic artery and later embolization of distal vessels with beads of various calibers. Universal consensus regarding the ideal particle size is yet to be defined. We retrospectively evaluated 24 consecutive patients (median age: 75 years; range: 59–86 years) treated with PAE at our institution from October 2015 to November 2022. Particles of different sizes were employed; 12 patients were treated with 40–120 µm particles, 5 with 100 µm, 5 with 100–300 µm and 2 with 250 µm. Technical success, defined as selective prostate artery catheterization and controlled release of embolizing beads, was achieved in all patients. Removal vs. retention of the urinary catheter at the first post-procedural urological visit was the main clinical objective. No major peri-procedural complications were recorded, with 56% of patients successfully removing the urinary catheter. Full article
(This article belongs to the Special Issue Interventional Radiology: Towards Personalized Medicine)
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12 pages, 1649 KiB  
Article
Comparative Analysis of Large Language Models in Emergency Plastic Surgery Decision-Making: The Role of Physical Exam Data
by Sahar Borna, Cesar A. Gomez-Cabello, Sophia M. Pressman, Syed Ali Haider and Antonio Jorge Forte
J. Pers. Med. 2024, 14(6), 612; https://doi.org/10.3390/jpm14060612 - 8 Jun 2024
Viewed by 282
Abstract
In the U.S., diagnostic errors are common across various healthcare settings due to factors like complex procedures and multiple healthcare providers, often exacerbated by inadequate initial evaluations. This study explores the role of Large Language Models (LLMs), specifically OpenAI’s ChatGPT-4 and Google Gemini, [...] Read more.
In the U.S., diagnostic errors are common across various healthcare settings due to factors like complex procedures and multiple healthcare providers, often exacerbated by inadequate initial evaluations. This study explores the role of Large Language Models (LLMs), specifically OpenAI’s ChatGPT-4 and Google Gemini, in improving emergency decision-making in plastic and reconstructive surgery by evaluating their effectiveness both with and without physical examination data. Thirty medical vignettes covering emergency conditions such as fractures and nerve injuries were used to assess the diagnostic and management responses of the models. These responses were evaluated by medical professionals against established clinical guidelines, using statistical analyses including the Wilcoxon rank-sum test. Results showed that ChatGPT-4 consistently outperformed Gemini in both diagnosis and management, irrespective of the presence of physical examination data, though no significant differences were noted within each model’s performance across different data scenarios. Conclusively, while ChatGPT-4 demonstrates superior accuracy and management capabilities, the addition of physical examination data, though enhancing response detail, did not significantly surpass traditional medical resources. This underscores the utility of AI in supporting clinical decision-making, particularly in scenarios with limited data, suggesting its role as a complement to, rather than a replacement for, comprehensive clinical evaluation and expertise. Full article
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10 pages, 836 KiB  
Article
Oncologic and Obstetric Outcomes Following Radical Abdominal Trachelectomy in Non-Low-Risk Early-Stage Cervical Cancers: A 10-Year Austrian Single-Center Experience
by Melina Danisch, Marlene Kranawetter, Thomas Bartl, Magdalena Postl, Christoph Grimm, Eva Langthaler and Stephan Polterauer
J. Pers. Med. 2024, 14(6), 611; https://doi.org/10.3390/jpm14060611 - 8 Jun 2024
Viewed by 307
Abstract
Radical trachelectomy allows for fertility preservation in patients with early cervical cancer not qualifying as “low-risk” as defined by ConCerv. This study reports on the 10-year surgical, oncological, and obstetrical experience of patients treated by radical abdominal trachelectomy at an Austrian tertiary care [...] Read more.
Radical trachelectomy allows for fertility preservation in patients with early cervical cancer not qualifying as “low-risk” as defined by ConCerv. This study reports on the 10-year surgical, oncological, and obstetrical experience of patients treated by radical abdominal trachelectomy at an Austrian tertiary care center. A retrospective chart analysis and telephone survey of all patients with FIGO stage IA2-IB2 (2018) cervical cancer treated by radical abdominal trachelectomy and pelvic lymphadenectomy between 2013 and 2022 were performed. Radical abdominal trachelectomy was attempted in 29 patients, of whom 3 patients underwent neoadjuvant chemotherapy. Three cases, including one after neoadjuvant therapy, required conversion to radical hysterectomy due to positive margins; four cases had positive lymph nodes following surgical staging and were referred to primary chemo-radiotherapy. Twenty-two (75.9%) successful abdominal radical trachelectomies preserving fertility were performed. According to final histopathology, 79.3% of tumors would not have met the “low-risk”-criteria. At a median follow-up of 64.5 (25.5–104.0) months, no recurrence was observed. Eight (36.4%) patients attempted to conceive, with a live birth rate of 62.5%. Radical abdominal trachelectomy appears oncologically safe in early-stage cervical cancers that do not fulfill the “low-risk”-criteria. Strict preoperative selection of patients who might qualify for more conservative surgical approaches is strongly recommended. Full article
(This article belongs to the Section Mechanisms of Diseases)
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11 pages, 273 KiB  
Article
Association between Height and Functional Outcomes of Patients 6 Months after a Stroke: A Multicenter Prospective Observational Cohort Study
by Nae Yoon Kang, Sung-Hwa Ko, Yong-Il Shin, Ji Hong Min, Mi Sook Yun, Min Kyun Sohn, Jongmin Lee, Deog Young Kim, Gyung-Jae Oh, Yang Soo Lee, Min Cheol Joo, So Young Lee, Min-Keun Song, Junhee Han, Jeonghoon Ahn, Yun-Hee Kim and Won Hyuk Chang
J. Pers. Med. 2024, 14(6), 610; https://doi.org/10.3390/jpm14060610 - 7 Jun 2024
Viewed by 217
Abstract
Many physical factors influence post-stroke functional outcomes. However, few studies have examined the influence of height on these outcomes. Here, data from the Korean Stroke Cohort for Functioning and Rehabilitation were used and patients’ height was categorized into three groups: short (lower 25%), [...] Read more.
Many physical factors influence post-stroke functional outcomes. However, few studies have examined the influence of height on these outcomes. Here, data from the Korean Stroke Cohort for Functioning and Rehabilitation were used and patients’ height was categorized into three groups: short (lower 25%), middle (middle 50%), and tall (upper 25%). Differences in the modified Rankin scale (mRS), functional ambulatory category (FAC), and Korean-translated version of the Modified Barthel Index (K-MBI) scores were analyzed for each group at 6 months post-stroke. A subgroup analysis was conducted based on the initial Fugl-Meyer Assessment (FMA) score. We analyzed functional outcomes in 5296 patients at 6 months post-stroke, adjusting for age and body mass index. The short-height group exhibited higher mRS scores (1.88 ± 0.043), lower FAC scores (3.74 ± 0.045), and lower K-MBI scores (82.83 ± 0.748) than the other height groups (p < 0.05). In the subgroup analysis, except for the very severe FMA group, the short-height group also exhibited worse outcomes in terms of mRS, FAC, and K-MBI scores (p < 0.05). Taken together, the short-height group exhibited worse outcomes related to disability, gait function, and ADLs at 6 months post-stroke. Full article
20 pages, 741 KiB  
Article
Clinical Factors Associated with Binge-Eating Episodes or Purging Behaviors in Patients Affected by Eating Disorders: A Cross-Sectional Study
by Alice Caldiroli, Letizia Maria Affaticati, Sara Coloccini, Francesca Manzo, Alberto Scalia, Enrico Capuzzi, Davide La Tegola, Fabrizia Colmegna, Antonios Dakanalis, Maria Salvina Signorelli, Massimiliano Buoli and Massimo Clerici
J. Pers. Med. 2024, 14(6), 609; https://doi.org/10.3390/jpm14060609 - 7 Jun 2024
Viewed by 190
Abstract
The aim of the present study was to investigate the potential associations between clinical/socio-demographic variables and the presence of purging/binge-eating episodes in eating disorders (EDs). Clinical/socio-demographic variables and psychometric scores were collected. Groups of patients were identified according to the presence or absence [...] Read more.
The aim of the present study was to investigate the potential associations between clinical/socio-demographic variables and the presence of purging/binge-eating episodes in eating disorders (EDs). Clinical/socio-demographic variables and psychometric scores were collected. Groups of patients were identified according to the presence or absence of purging or objective binge-eating episodes (OBEs) and compared through t-test and chi-square tests. Binary logistic regression analyses were run. A sample of 51 ED outpatients was recruited. Patients with purging behaviors had a longer duration of untreated illness (DUI) (t = 1.672; p = 0.019) and smoked a higher number of cigarettes/day (t = 1.061; p = 0.030) compared to their counterparts. A lower BMI was associated with purging (OR = 0.881; p = 0.035), and an older age at onset showed a trend towards statistical significance (OR = 1.153; p = 0.061). Patients with OBEs, compared to their counterparts, were older (t = 0.095; p < 0.001), more frequently presented a diagnosis of bulimia or binge-eating disorder (χ2 = 26.693; p < 0.001), a longer duration of illness (t = 2.162; p = 0.019), a higher number of hospitalizations (t = 1.301; p = 0.012), and more often received a prescription for pharmacological treatment (χ2 = 7.864; OR = 6.000; p = 0.005). A longer duration of the last pharmacological treatment was associated with OBE (OR = 1.569; p = 0.046). In contrast to purging, OBE was associated with a more complicated and severe presentation of ED. A lower BMI and a later age at onset, as well as long-lasting previous pharmacological treatments, may predict the presence of purging/binging. Further research is needed to thoroughly characterize ED features and corroborate our preliminary findings. Full article
(This article belongs to the Section Disease Biomarker)
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