Journal of Personalized Medicine最新文献

{"title":"EBV-Driven HLH and T Cell Lymphoma in a Child with X-Linked Agammaglobulinemia: A Genetically Confirmed Case Report and Literature Review.","authors":"Jose Humberto Perez-Olais, Elizabeth Mendoza-Coronel, Jose Javier Moreno-Ortega, Jesús Aguirre-Hernández, Gabriela López-Herrera, Marco Antonio Yamazaki-Nakashimada, Patricia Baeza-Capetillo, Guadalupe Fernanda Godínez-Zamora, Omar Josue Saucedo-Ramírez, Laura C Bonifaz, Ezequiel M Fuentes-Pananá","doi":"10.3390/jpm15080365","DOIUrl":"10.3390/jpm15080365","url":null,"abstract":"<p><p><b>Introduction</b>: X-linked agammaglobulinemia (XLA) is a prototypical inborn error of immunity (IEI) caused by mutations in the <i>BTK</i> gene, leading to a profound deficiency of mature B cells and severe pan-hypogammaglobulinemia. The Epstein-Barr virus (EBV), which primarily infects B lymphocytes, is believed to be unable to establish persistence in these patients due to the lack of its natural reservoir. Indeed, current evidence supports that EBV infection is typically refractory in individuals with XLA. <b>Methods</b>: We describe the clinical and molecular characterization of a 10-year-old male patient with genetically confirmed XLA who developed EBV viremia, hemophagocytic lymphohistiocytosis (HLH), and EBV-positive cutaneous T cell lymphoma. Diagnosis was supported by flow cytometry, serology, quantitative PCR, EBER <i>in situ</i> hybridization, histopathology, and whole-exome sequencing. <b>Results</b>: Despite the complete absence of peripheral B cells, EBV was detected in leukocytes and multiple tissues, indicating active infection. The patient developed HLH and a T cell lymphoma with EBER-positive infiltrates. Genetic analysis revealed a nonsense mutation in <i>BTK</i> (1558C>T, R520*), confirming XLA. The clinical course included multiple episodes of neutropenia, viral and bacterial infections, and severe systemic inflammation. <b>Conclusions</b>: This is the first documented case of an XLA patient with confirmed <i>BTK</i> mutation presenting with clinical features more consistent with chronic active EBV infection. These findings challenge the prevailing paradigm that XLA confers protection against EBV-related diseases and further support the possibility of EBV noncanonical reservoirs leading to immune dysregulation. EBV should also be considered in the differential diagnosis of XLA patients presenting with systemic inflammation or lymphoproliferative disease.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387490/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Robotic-Assisted Joint Line Preserving Unicompartmental Knee Arthroplasty Positioning Among Octogenarians.","authors":"Filippo Leggieri, Fernando Nahuel Martín Cocilova, Alessandro Civinini, Davide Stimolo, Roberto Civinini, Matteo Innocenti","doi":"10.3390/jpm15080362","DOIUrl":"10.3390/jpm15080362","url":null,"abstract":"<p><p><b>Introduction</b>: Octogenarians undergoing unicompartmental knee arthroplasty (UKA) face increased risks of complications due to reduced bone support following osteoporosis. The aim of this study was to describe our preferred technique to balance robotic-assisted UKA in this specific patient population and to present its results. <b>Methods</b>: This retrospective analysis of prospectively collected data examined 121 consecutive octogenarian patients (median age 84 years, IQR 82-86) who underwent robotic-assisted medial UKA between September 2018 and December 2022 with ≥24 months follow-up. Patients aged ≤80 years, with ≤2 years of follow-up, or without informed consent were excluded. Data collection included radiographic measurements (HKA, LDFA, MPTA, joint line height), patient-reported outcome measures (Oxford Knee Score, Knee Society Score), and complications. Statistical analysis employed descriptive statistics, paired <i>t</i>-tests, Cohen's d for effect sizes, and the McNemar test for categorical variables. <b>Results</b>: The hip-knee-ankle angle improved significantly from 174.43° to 178.04° (mean difference 3.61°, 95% CI 3.13-4.09, <i>p</i> < 0.001). Patient-reported outcomes demonstrated substantial improvements: the Knee Society Score increased by 83.09 points (95% CI 79.76-86.42, <i>p</i> < 0.001, Cohen's d = 4.53), and the Oxford Knee Score increased by 17.09 points (95% CI 15.42-18.76, <i>p</i> < 0.001), with both exceeding minimal clinically important differences. Only 7.4% (9/121) of cases exhibited joint line lowering of >2 mm, with 1.7% (2/121) having both post-operative HKA <175° and joint line lowering of >2 mm. The implant survival rate was 100% with minimal complications, including two conservatively managed tibial plateau fractures and two cases of wound dehiscence with no further surgery needed. <b>Conclusions</b>: Robotic-assisted medial UKA can consistently preserve joint line height while achieving excellent alignment correction and clinical outcomes in octogenarians, potentially addressing failure risks in this specific population.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artificial Intelligence for Individualized Radiological Dialogue: The Impact of RadioBot on Precision-Driven Medical Practices.","authors":"Amato Infante, Alessandro Perna, Sabrina Chiloiro, Giammaria Marziali, Matia Martucci, Luigi Demarchis, Biagio Merlino, Luigi Natale, Simona Gaudino","doi":"10.3390/jpm15080363","DOIUrl":"10.3390/jpm15080363","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Radiology often presents communication challenges due to its technical complexity, particularly for patients, trainees, and non-specialist clinicians. This study aims to evaluate the effectiveness of RadioBot, an AI-powered chatbot developed on the Botpress platform, in enhancing radiological communication through natural language processing (NLP). <b>Methods:</b> RadioBot was designed to provide context-sensitive responses based on guidelines from the American College of Radiology (ACR) and the Radiological Society of North America (RSNA). It addresses queries related to imaging indications, contraindications, preparation, and post-procedural care. A structured evaluation was conducted with twelve participants-patients, residents, and radiologists-who assessed the chatbot using a standardized quality and satisfaction scale. <b>Results:</b> The chatbot received high satisfaction scores, particularly from patients (mean = 4.425) and residents (mean = 4.250), while radiologists provided more critical feedback (mean = 3.775). Users appreciated the system's clarity, accessibility, and its role in reducing informational bottlenecks. The perceived usefulness of the chatbot inversely correlated with the user's level of expertise, serving as an educational tool for novices and a time-saving reference for experts. <b>Conclusions:</b> RadioBot demonstrates strong potential in improving radiological communication and supporting clinical workflows, especially with patients where it plays an important role in personalized medicine by framing radiology data within each individual's cognitive and emotional context, which improves understanding and reduces associated diagnostic anxiety. Despite limitations such as occasional contextual incoherence and limited multimodal capabilities, the system effectively disseminates radiological knowledge. Future developments should focus on enhancing personalization based on user specialization and exploring alternative platforms to optimize performance and user experience.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Estimating Postoperative Lung Function Using Three-Dimensional Segmental HRCT-Reconstruction: A Retrospective Pilot Study on Right Upper Lobe Resections.","authors":"Aljaz Hojski, Brigitta Gahl, Michael Tamm, Didier Lardinois","doi":"10.3390/jpm15080364","DOIUrl":"10.3390/jpm15080364","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Can three-dimensional (3D) reconstruction software that simulates postoperative lung volumes more effectively identify suitable candidates for anatomical lung resection compared to conventional methods, particularly in personalized surgical planning? <b>Patients/Methods:</b> This single-center pilot study included 20 patients (10 females; age 68 ± 10 years) who underwent segmental or lobar VATS resection of the right upper lobe for NSCLC. Three-dimensional simulations from preoperative HRCT scans were correlated with measured pulmonary function and compared with predictions from the \"5% per segment rule\" and the model proposed by Brunelli et al. <b>Results:</b> Patients (8/20) with increased postoperative FEV1 [2.40 (0.56) vs. 2.30 (0.55)] had a lower proportion of healthy tissue [76 (18)% vs. 89 (10)%, <i>p</i> = 0.045] in 3D simulations than those with decreased FEV1. Mean postoperative FEV1 was 2.3 (0.54); the Brunelli model predicted 1.8 (0.36) and the \"5% rule\" 2.2 (0.54). Both models underestimated postoperative function, though the \"5% rule\" was more accurate. <b>Conclusions:</b> This pilot study suggests that 3D-HRCT reconstruction has the potential to facilitate patient-tailored identification of individuals who may derive greater benefit from surgical intervention compared to conventional methods. Further research is needed to determine whether this technology can more accurately predict postoperative pulmonary function in patients with severe COPD. Utilizing 3D-segmental-HRCT-reconstruction software, the advantages of lung resection in the context of NSCLC can be assessed on an individualized patient basis.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two Machine Learning Models to Economize Glaucoma Screening Programs: An Approach Based on Neural Nets.","authors":"Wolfgang Hitzl, Markus Lenzhofer, Melchior Hohensinn, Herbert Anton Reitsamer","doi":"10.3390/jpm15080361","DOIUrl":"10.3390/jpm15080361","url":null,"abstract":"<p><p><b>Background</b>: In glaucoma screening programs, a large proportion of patients remain free of open-angle glaucoma (OAG) or have no need of intraocular eye pressure (IOP)-lowering therapy within 10 years of follow-up. Is it possible to identify a large proportion of patients already at the initial examination and, thus, to safely exclude them already at this point? <b>Methods</b>: A total of 6889 subjects received a complete ophthalmological examination, including objective optic nerve head and quantitative disc measurements at the initial examination, and after an average follow-up period of 11.1 years, complete data were available of 585 individuals. Two neural network models were trained and extensively tested. To allow the models to refuse to make a prediction in doubtful cases, a reject option was included. <b>Results</b>: A prediction for the first endpoint, 'remaining OAG-free and no IOP-lowering therapy within 10 years', was rejected in 57% of cases, and in the remaining cases (43%), 253/253 (=100%) received a correct prediction. The second prediction model for the second endpoint 'remaining OAG-free within 10 years' refused to make a prediction for 46.4% of all subjects. In the remaining cases (53.6%), 271/271 (=100%) were correctly predicted. <b>Conclusions</b>: Most importantly, no eye was predicted false-negatively or false-positively. Overall, 43% all eyes can safely be excluded from a glaucoma screening program for up to 10 years to be certain that the eye remains OAG-free and will not need IOP-lowering therapy. The corresponding model significantly reduces the screening performed by and work load of ophthalmologists. In the future, better predictors and models may increase the number of patients with a safe prediction, further economizing time and healthcare budgets in glaucoma screening.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387565/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Predictive Value of Red Cell Distribution Width in End-Stage Colorectal Cancers' 6-Month Palliative Chemotherapy Response-A Single Center's Experience.","authors":"Maciej Jankowski, Krystyna Bratos, Joanna Wawer, Tomasz Urbanowicz","doi":"10.3390/jpm15080359","DOIUrl":"10.3390/jpm15080359","url":null,"abstract":"<p><p><b>Backgrounds:</b> The incidence of gastrointestinal cancers (GICs), though decreased in recent years, still accounts for 35% of all cancer-related mortality. The proper identification of risk factors, early diagnosis, and therapy optimization represent the three cornerstones of GIC treatment. In four-stage diseases, chemotherapy embodies target therapy that may prolong patients' expectancy when suitably applied. <b>Patients and Methods:</b> There were 133 (82 (62%) male and 51 (38%) female) consecutive patients with a median age of 70 (64-74) years who underwent palliative treatment due to four-stage colorectal cancer (CRC) between 2022 and 2024. The demographic, clinical, and laboratory data and applied chemotherapeutic protocols were evaluated regarding the response to applied therapy, resulting in complete or partial tumor regression. The advancement of the tumor was based on computed tomography (CT) performed before and 6 months after the chemotherapy. <b>Results:</b> The multivariable model revealed red cell distribution width (RDW) from peripheral blood analysis (OR: 0.81, 95% CI: 0.65-1.00, <i>p</i> = 0.049) as a possible predictor for systemic treatment response in colorectal cancer. The receiver operating characteristic curve revealed a predictive value of male sex and RDW prior to systemic therapy, with an area under the curve of 0.672, yielding a sensitivity of 70.0% and specificity of 58.1%. <b>Conclusions:</b> The results of our analysis point out the possible modulatory impact of RDW on six-month systemic therapy in colorectal terminal cancer management. Further studies are required to confirm the presented results.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prostate Cancer Treatments and Their Effects on Male Fertility: Mechanisms and Mitigation Strategies.","authors":"Aris Kaltsas, Nikolaos Razos, Zisis Kratiras, Dimitrios Deligiannis, Marios Stavropoulos, Konstantinos Adamos, Athanasios Zachariou, Fotios Dimitriadis, Nikolaos Sofikitis, Michael Chrisofos","doi":"10.3390/jpm15080360","DOIUrl":"10.3390/jpm15080360","url":null,"abstract":"<p><p>Prostate cancer (PCa) is the second most frequently diagnosed malignancy in men worldwide. Although traditionally considered a disease of older men, the incidence of early-onset PCa (diagnosis < 55 years) is steadily rising. Advances in screening and therapy have significantly improved survival, creating a growing cohort of younger survivors for whom post-treatment quality of life-notably reproductive function-is paramount. Curative treatments such as radical prostatectomy, pelvic radiotherapy, androgen-deprivation therapy (ADT), and chemotherapy often cause irreversible infertility via multiple mechanisms, including surgical disruption of the ejaculatory tract, endocrine suppression of spermatogenesis, direct gonadotoxic injury to the testes, and oxidative sperm DNA damage. Despite these risks, fertility preservation is frequently overlooked in pre-treatment counseling, leaving many patients unaware of their options. This narrative review synthesizes current evidence on how PCa therapies impact male fertility, elucidates the molecular and physiological mechanisms of iatrogenic infertility, and evaluates both established and emerging strategies for fertility preservation and restoration. Key interventions covered include sperm cryopreservation, microsurgical testicular sperm extraction (TESE), and assisted reproductive technologies (ART). Psychosocial factors influencing decision-making, novel biomarkers predictive of post-treatment spermatogenic recovery, and long-term offspring outcomes are also examined. The review underscores the urgent need for timely, multidisciplinary fertility consultation as a routine component of PCa care. As PCa increasingly affects men in their reproductive years, proactively integrating preservation into standard oncologic practice should become a standard survivorship priority.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387141/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958273","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Machine Learning for Personalized Prediction of Electrocardiogram (EKG) Use in Emergency Care.","authors":"Hairong Wang, Xingyu Zhang","doi":"10.3390/jpm15080358","DOIUrl":"10.3390/jpm15080358","url":null,"abstract":"<p><p><b>Background</b>: Electrocardiograms (EKGs) are essential tools in emergency medicine, often used to evaluate chest pain, dyspnea, and other symptoms suggestive of cardiac dysfunction. Yet, EKGs are not universally administered to all emergency department (ED) patients. Understanding and predicting which patients receive an EKG may offer insights into clinical decision making, resource allocation, and potential disparities in care. This study examines whether integrating structured clinical data with free-text patient narratives can improve prediction of EKG utilization in the ED. <b>Methods</b>: We conducted a retrospective observational study to predict electrocardiogram (EKG) utilization using data from 13,115 adult emergency department (ED) visits in the nationally representative 2021 National Hospital Ambulatory Medical Care Survey-Emergency Department (NHAMCS-ED), leveraging both structured features-demographics, vital signs, comorbidities, arrival mode, and triage acuity, with the most influential selected via Lasso regression-and unstructured patient narratives transformed into numerical embeddings using Clinical-BERT. Four supervised learning models-Logistic Regression (LR), Support Vector Machine (SVM), Random Forest (RF) and Extreme Gradient Boosting (XGB)-were trained on three inputs (structured data only, text embeddings only, and a late-fusion combined model); hyperparameters were optimized by grid search with 5-fold cross-validation; performance was evaluated via AUROC, accuracy, sensitivity, specificity and precision; and interpretability was assessed using SHAP values and Permutation Feature Importance. <b>Results</b>: EKGs were administered in 30.6% of adult ED visits. Patients who received EKGs were more likely to be older, White, Medicare-insured, and to present with abnormal vital signs or higher triage severity. Across all models, the combined data approach yielded superior predictive performance. The SVM and LR achieved the highest area under the ROC curve (AUC = 0.860 and 0.861) when using both structured and unstructured data, compared to 0.772 with structured data alone and 0.823 and 0.822 with unstructured data alone. Similar improvements were observed in accuracy, sensitivity, and specificity. <b>Conclusions</b>: Integrating structured clinical data with patient narratives significantly enhances the ability to predict EKG utilization in the emergency department. These findings support a personalized medicine framework by demonstrating how multimodal data integration can enable individualized, real-time decision support in the ED.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387351/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Donor Age on Graft Failure After Deceased Donor Liver Transplantation by Donor-Recipient Sex Combinations: An Analysis of the UNOS OPTN Database.","authors":"Sangbin Han, Vatche A Agopian, Justin A Steggerda, Irene K Kim, Alison Sanford, Yi-Te Lee, Ji-Hye Kwon, Jin Soo Rhu, Gaab Soo Kim, Ju-Dong Yang","doi":"10.3390/jpm15080357","DOIUrl":"10.3390/jpm15080357","url":null,"abstract":"<p><p><b>Background</b> Sex disparity has been highlighted in personalized medicine for various human diseases including acute/chronic liver diseases. In the transplant community, greater graft failure risk in female-to-male liver transplantation (LT) has been repeatedly reported, and a recent study in living donor LT reported that the inferiority of female-to-male LT is shown only when donor age is ≤40 y. We aimed to analyze the United Network for Organ Sharing (UNOS) database to test if the poorer outcome of female-to-male LT changes by donor age of 40 y in deceased donor LT, as shown in living donor LT. <b>Methods</b> In this retrospective cohort study, 11,752 adult patients in the UNOS registry who underwent deceased donor LT between 2000-2023 were analyzed. Multivariable analysis was performed to adjust the effects from transplant years, graft ischemia time, disease severity, and others. The primary outcome was graft failure. <b>Results</b> Within the subgroup of recipients with ≤40 y donors, graft failure risk was significantly greater in female-to-male LT than others (vs. female-to-female, HR = 1.43 [1.16-1.76], <i>p</i> < 0.001; vs. male-to-female, HR = 1.46 [1.18-1.81], <i>p</i> < 0.001; vs. male-to-male, HR = 1.26 [1.16-1.49], <i>p</i> = 0.009). In contrast, within the subgroup of recipients with >40 y donors, the risk was comparable between female-to-male LT and other donor-recipient sex groups (vs. female-to-female, <i>p</i> = 0.907; vs. male-to-female, <i>p</i> = 0.781; vs. male-to-male, <i>p</i> = 0.937). We tested various cutoff donor ages and determined that 40 y is the best cutoff value to define the risk subgroup in female-to-male LT. <b>Conclusions</b> In the current study, we found that the sex disparity shown in living donor LT is also observed in deceased donor LT. That is, post-transplant graft failure risk was greater in female-to-male LT than other donor-recipient sex groups only when donor age was ≤40 y. In contrast, graft failure risk was comparable irrespective of donor-recipient sex combinations when donor age was >40 y.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387996/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thirty-Three Years Follow-Up of a Greek Family with Abetalipoproteinemia: Absence of Liver Damage on Long-Term Medium Chain Triglycerides Supplementation.","authors":"John K Triantafillidis, Areti Manioti, Theodoros Pittaras, Theodoros Kozonis, Emmanouil Kritsotakis, Georgios Malgarinos, Konstantinos Pantos, Konstantinos Sfakianoudis, Manousos M Konstadoulakis, Apostolos E Papalois","doi":"10.3390/jpm15080354","DOIUrl":"10.3390/jpm15080354","url":null,"abstract":"<p><p><b>Background:</b> The long-term clinical and laboratory results of a 33-year follow-up of a Greek family with abetalipoproteinemia (ABL) are described. Case Report: The patients (two brothers and their sister, aged 57, 49, and 62 years, respectively) are still alive, being under close surveillance. In two of the three patients, diarrhea appeared in early infancy, while in the third, it appeared during adolescence. CNS symptomatology worsened after the second decade of life. At the same time, night blindness appeared in the advanced stages of the disease, resulting in almost complete loss of vision in one of the male patients and severe impairment in the other. The diagnosis was based on the clinical picture, ophthalmological findings, serum lipid estimations, and presence of peripheral acanthocytosis. All patients exhibited typical serum lipidemic profile, ophthalmological findings, and acanthocytes in the peripheral blood. During the follow-up period, strict dietary modifications were applied, including the substitution of fat with medium-chain triglycerides (MCT oil). After 33 years since the initial diagnosis, all patients are alive without any sign of liver dysfunction despite continuous use of MCT oil. However, symptoms from the central nervous system and vision impairment worsened. Conclusion: The course of these patients suggests that the application of a modified diet, including MCT oil, along with close surveillance, could prolong the survival of patients without significant side effects from the liver.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 8","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12387837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}