Journal of Personalized Medicine

22 pages, 1224 KiB

Open AccessArticle

Exploring Dyslexia Risk Through Psycholinguistic and Orofacial Correlates: Neurodevelopmental Insights Toward a Personalized Medicine Approach

by Ștefan Lucian Burlea, Laura Elisabeta Checheriţă, Ovidiu Stamatin, Marius Văcaru, Ana Elena Sîrghe, Ioana Rudnic, Diana Andreea Ilinca, Violina Budu, Maria Antonela Beldiman, Vasilica Toma, Liana Aminov and Anamaria Ciubară

J. Pers. Med. 2025, 15(8), 369; https://doi.org/10.3390/jpm15080369 - 12 Aug 2025

Abstract

Background/Objectives: Dyslexia and dysgraphia are common childhood neurodevelopmental disorders characterized by persistent reading and writing difficulties, despite normal intelligence and access to education. While typically described as cognitive–linguistic deficits, emerging research suggests potential links to orofacial dysfunction and emotional regulation issues. This [...] Read more.

Background/Objectives: Dyslexia and dysgraphia are common childhood neurodevelopmental disorders characterized by persistent reading and writing difficulties, despite normal intelligence and access to education. While typically described as cognitive–linguistic deficits, emerging research suggests potential links to orofacial dysfunction and emotional regulation issues. This study examines associations between stomatognathic anomalies, emotional dysregulation, and early indicators of dyslexia-dysgraphia risk in preschool children, aiming to strengthen early screening and intervention strategies. Methods: A cross-sectional case–control study included 689 Romanian children aged 5–7 from 11 kindergartens. Screening involved the ACTIV-BURLEA psychometric battery to evaluate language, motor, and cognitive abilities. Clinical assessments targeted dental arch form, occlusal balance, and tongue and lip function. Emotional regulation was evaluated using a standardized child behavior scale. Thirty-two children were identified as at risk for dyslexia-dysgraphia and followed longitudinally, and then compared to matched controls. Statistical analysis employed chi-square tests, Pearson correlations, t-tests, and logistic regression. Results: At follow-up, 74.19% of at-risk children received confirmed diagnoses. Tongue dysfunction (TD) (OR = 4.81, p = 0.06) and emotional dysregulation (ED) (OR = 3.94, p = 0.09) emerged as key risk indicators, though not statistically significant. Tongue dysfunction (TD) correlated with school avoidance (r = 0.76, p < 0.01), while occlusal anomalies (OAs) correlated with emotional distress (ED) (r = 0.64, p < 0.05). Conclusions: The findings suggest that early dyslexia-dysgraphia risk involves orofacial and emotional components. Tongue dysfunction (TD), occlusal disturbances (OA), and emotional dysregulation (ED) may offer important clinical markers. Integrating dental and emotional assessments into preschool screening may improve early identification and enable personalized intervention. Full article

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

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21 pages, 3076 KiB

Open AccessSystematic Review

Poly-4-Hydroxybutyrate as a Novel Biomaterial in Personalized Breast Surgery: A Systematic Review and Meta-Analysis

by Joseph M. Escandón, Ajani Nugent, Nolan S. Karp, Krishna Vyas, Carter J. Boyd, Lucas Kreutz-Rodrigues and Oscar J. Manrique

J. Pers. Med. 2025, 15(8), 368; https://doi.org/10.3390/jpm15080368 - 12 Aug 2025

Abstract

Background/Objectives: In the search for optimal meshes and matrices in breast surgery, poly-4-hydroxybutyrate (P4HB) has emerged as a promising alternative. This review evaluates the clinical application of P4HB scaffolds, focusing on complication rates and surgical outcomes. Methods: A systematic search was [...] Read more.

Background/Objectives: In the search for optimal meshes and matrices in breast surgery, poly-4-hydroxybutyrate (P4HB) has emerged as a promising alternative. This review evaluates the clinical application of P4HB scaffolds, focusing on complication rates and surgical outcomes. Methods: A systematic search was conducted using PubMed and ScienceDirect. Clinical studies assessing perioperative outcomes and complications associated with P4HB scaffolds in breast surgery were included. Results were stratified into aesthetic and reconstructive surgery categories. Meta-analysis was implemented to assess the rate of complications and satisfaction. Results: This systematic review included 13 studies evaluating the use of P4HB scaffold in breast reconstruction (636 cases) and aesthetic breast surgery (462 patients). Breast reconstruction studies were all retrospective, mainly reporting two-stage, prepectoral, immediate reconstructions. Aesthetic studies included both prospective and retrospective designs, with varied implant planes and incision patterns. P4HB use was associated with high satisfaction (95.5%) and favorable outcomes, including lower odds of wound complications (log-OR = −1.135, p = 0.003). Complication rates were low across both surgical categories. P4HB scaffold showed promise in supporting implant-based procedures and maintaining breast shape over time, with minimal increase in surgical time and stable anthropometric measurements. Conclusions: The use of P4HB scaffold in breast reconstruction and aesthetic surgery shows promising results, notably in reducing wound-related complications. Breast reconstruction studies report low complication rates and favorable patient-reported outcomes. In aesthetic procedures, P4HB contributes to improved long-term breast shape and high satisfaction. Despite encouraging findings, further research is necessary to validate long-term efficacy and refine surgical approaches. Full article

(This article belongs to the Special Issue Plastic Surgery: New Perspectives and Innovative Techniques)

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29 pages, 799 KiB

Open AccessReview

The Evolving Landscape of Novel and Old Biomarkers in Localized High-Risk Prostate Cancer: State of the Art, Clinical Utility, and Limitations Toward Precision Oncology

by Lilia Bardoscia, Angela Sardaro, Mariagrazia Quattrocchi, Paola Cocuzza, Elisa Ciurlia, Ilaria Furfaro, Maria Antonietta Gilio, Marcello Mignogna, Beatrice Detti and Gianluca Ingrosso

J. Pers. Med. 2025, 15(8), 367; https://doi.org/10.3390/jpm15080367 - 11 Aug 2025

Abstract

High-risk prostate cancer (PC) accounts for 50–75% of 10-year relapse after primary treatment. Routine clinicopathological parameters for PC patient stratification have proven insufficient to inform clinical decisions in this setting. Tumor genomic profiling allowed overcoming the limits of diagnostic accuracy in the field [...] Read more.

High-risk prostate cancer (PC) accounts for 50–75% of 10-year relapse after primary treatment. Routine clinicopathological parameters for PC patient stratification have proven insufficient to inform clinical decisions in this setting. Tumor genomic profiling allowed overcoming the limits of diagnostic accuracy in the field of PC, integrated with radiomic features, automated platforms, evaluation of patient-related factors (age, performance status, comorbidity) and tumor-related factors (risk class, volume, T stage). In this scenario, the use of biomarkers to guide decision-making in localized, high-risk PC is evolving actively and rapidly. Additional tests for prostate-specific antigen have demonstrated superior sensitivity and specificity for detecting clinically significant PC, as well as commercially available genomic classifiers improving the risk prediction of disease recurrence/progression/metastasis, in combination with common clinical variables. This narrative review aimed to summarize the state of the art on the utility and evolution of old and emerging biomarkers in the diagnosis and prognosis of localized, high-risk PC, and the potential for their application in clinical practice. We focused on the theoretical molecular foundation of prostate carcinogenesis and explored the impact of genomic profiling, next-generation sequencing, and artificial intelligence in the extrapolation of customized features able to predict disease aggressiveness and possibly drive personalized therapeutic decisions. Full article

(This article belongs to the Special Issue Urological Cancer: Clinical Advances in Personalized Therapy)

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15 pages, 475 KiB

Open AccessArticle

Single-Center Cross-Sectional Analysis of Patients with RA, SpA, and PsA: Data from the Prescription Database

by Maurizio Benucci, Francesca Li Gobbi, Emanuele Antonio Maria Cassarà, Anna Lucia Marigliano, Alessandro Mannoni and Enrico Benvenuti

J. Pers. Med. 2025, 15(8), 366; https://doi.org/10.3390/jpm15080366 - 11 Aug 2025

Abstract

Introduction. The Italian Committee for Tailored BIOlogic Therapy (ITABIO), in a first report, has reviewed the literature to identify the best strategy for the choice of second-line biologic therapy in patients with rheumatoid arthritis (RA), spondyloarthritis (SpA), and psoriatic arthritis (PsA). To [...] Read more.

Introduction. The Italian Committee for Tailored BIOlogic Therapy (ITABIO), in a first report, has reviewed the literature to identify the best strategy for the choice of second-line biologic therapy in patients with rheumatoid arthritis (RA), spondyloarthritis (SpA), and psoriatic arthritis (PsA). To verify the application of ITABIO recommendations in real life and how the recommendations perform in maintaining the health status of patients affected by inflammatory arthritis (RA, SpA, PsA), a database has been developed by Pharmaceutical Governance to evaluate the appropriateness of prescriptions. Methods. We have analyzed retrospectively 616 patients, 288 (46.7%) affected by RA, 117 (19%) affected by SpA, and 211 (34.3%) affected by PsA. Age, sex, diagnosis, current treatment, previous treatments with csDMARDs, b-DMARDs, ts-DMARDs, presence of risk factors for cardiovascular (CV) events, liver disease, infections, extra-articular manifestations such as interstitial lung disease (ILD) for RA, enthesitis, dactylitis, uveitis, inflammatory bowel disease for SpA and PsA, neoplasms, diabetes, presence or absence of rheumatoid factor (RF) and anti-citrullinated peptide antibodies (ACPA) for RA were evaluated. Results. The percentage of treatments with anti-TNF biosimilars was 65.1, 52.4, and 24.3% in SpA (76 patients(pt)), PsA (110 pt), and RA (69 pt), respectively. The percentage of monotherapy was 68% (418 pt) in the three diseases. For RA, 34.2% of patients were difficult to treat (D2T) (98 pt), 54.8% (157 pt) were in monotherapy (tocilizumab-sarilumab-upadacitinib-filgotinib). Abatacept was the most prescribed treatment in RF and ACPA-positive patients and in those with ILD. The anti-IL-17A secukinumab was prescribed in 12% of SpA, of which 71% had enthesitis and dactylitis (14 pt). Ixekizumab was prescribed in 10.4% of PsA patients over 65 years with previous CV events, enthesitis, and dactylitis (21 pt). Apremilast was present in 71% of PsA with previous cancer. Conclusions. The cross-sectional analysis of prescriptions in patients with RA, SpA, and PsA demonstrates how the ITABIO recommendations can guide towards the correct appropriateness of prescription. RA and especially D2T-RA remains the disease with the greatest therapeutic failures, with the highest percentage of monotherapy (anti-IL-6 and Jak-i) and of discontinuation of MTX. Full article

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

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15 pages, 9593 KiB

Open AccessArticle

EBV-Driven HLH and T Cell Lymphoma in a Child with X-Linked Agammaglobulinemia: A Genetically Confirmed Case Report and Literature Review

by 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 and Ezequiel M. Fuentes-Pananá

J. Pers. Med. 2025, 15(8), 365; https://doi.org/10.3390/jpm15080365 - 9 Aug 2025

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Abstract

Introduction: X-linked agammaglobulinemia (XLA) is a prototypical inborn error of immunity (IEI) caused by mutations in the BTK 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 [...] Read more.

Introduction: X-linked agammaglobulinemia (XLA) is a prototypical inborn error of immunity (IEI) caused by mutations in the BTK 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. Methods: 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 in situ hybridization, histopathology, and whole-exome sequencing. Results: 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 BTK (1558C>T, R520*), confirming XLA. The clinical course included multiple episodes of neutropenia, viral and bacterial infections, and severe systemic inflammation. Conclusions: This is the first documented case of an XLA patient with confirmed BTK 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. Full article

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

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13 pages, 996 KiB

Open AccessArticle

Estimating Postoperative Lung Function Using Three-Dimensional Segmental HRCT-Reconstruction: A Retrospective Pilot Study on Right Upper Lobe Resections

by Aljaz Hojski, Brigitta Gahl, Michael Tamm and Didier Lardinois

J. Pers. Med. 2025, 15(8), 364; https://doi.org/10.3390/jpm15080364 - 8 Aug 2025

Viewed by 153

Abstract

Background/Objectives: 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? Patients/Methods: This single-center pilot study included 20 patients (10 females; age 68 ± 10 [...] Read more.

Background/Objectives: 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? Patients/Methods: 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. Results: 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)%, p = 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. Conclusions: 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. Full article

(This article belongs to the Special Issue Personalized Treatments in Thoracic Oncology Surgery)

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15 pages, 618 KiB

Open AccessArticle

Artificial Intelligence for Individualized Radiological Dialogue: The Impact of RadioBot on Precision-Driven Medical Practices

by Amato Infante, Alessandro Perna, Sabrina Chiloiro, Giammaria Marziali, Matia Martucci, Luigi Demarchis, Biagio Merlino, Luigi Natale and Simona Gaudino

J. Pers. Med. 2025, 15(8), 363; https://doi.org/10.3390/jpm15080363 - 8 Aug 2025

Viewed by 168

Abstract

Background/Objectives: 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 [...] Read more.

Background/Objectives: 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). Methods: 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. Results: 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. Conclusions: 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. Full article

(This article belongs to the Special Issue Transforming Precision Medicine: The Intersection of Digital Health and AI—2nd Edition)

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10 pages, 328 KiB

Open AccessArticle

Robotic-Assisted Joint Line Preserving Unicompartmental Knee Arthroplasty Positioning Among Octogenarians

by Filippo Leggieri, Fernando Nahuel Martín Cocilova, Alessandro Civinini, Davide Stimolo, Roberto Civinini and Matteo Innocenti

J. Pers. Med. 2025, 15(8), 362; https://doi.org/10.3390/jpm15080362 - 8 Aug 2025

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Abstract

Introduction: 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 [...] Read more.

Introduction: 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. Methods: 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 t-tests, Cohen’s d for effect sizes, and the McNemar test for categorical variables. Results: The hip–knee–ankle angle improved significantly from 174.43° to 178.04° (mean difference 3.61°, 95% CI 3.13–4.09, p < 0.001). Patient-reported outcomes demonstrated substantial improvements: the Knee Society Score increased by 83.09 points (95% CI 79.76–86.42, p < 0.001, Cohen’s d = 4.53), and the Oxford Knee Score increased by 17.09 points (95% CI 15.42–18.76, p < 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. Conclusions: 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. Full article

(This article belongs to the Special Issue Cutting-Edge Innovations in Hip and Knee Joint Replacement)

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14 pages, 1795 KiB

Open AccessArticle

Two Machine Learning Models to Economize Glaucoma Screening Programs: An Approach Based on Neural Nets

by Wolfgang Hitzl, Markus Lenzhofer, Melchior Hohensinn and Herbert Anton Reitsamer

J. Pers. Med. 2025, 15(8), 361; https://doi.org/10.3390/jpm15080361 - 7 Aug 2025

Viewed by 156

Abstract

Background: 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 [...] Read more.

Background: 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? Methods: 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. Results: 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. Conclusions: 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. Full article

(This article belongs to the Special Issue New Advances and Perspectives in Ophthalmology: Progress and Modern Challenges)

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28 pages, 3469 KiB

Open AccessReview

Prostate Cancer Treatments and Their Effects on Male Fertility: Mechanisms and Mitigation Strategies

by Aris Kaltsas, Nikolaos Razos, Zisis Kratiras, Dimitrios Deligiannis, Marios Stavropoulos, Konstantinos Adamos, Athanasios Zachariou, Fotios Dimitriadis, Nikolaos Sofikitis and Michael Chrisofos

J. Pers. Med. 2025, 15(8), 360; https://doi.org/10.3390/jpm15080360 - 7 Aug 2025

Viewed by 281

Abstract

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 [...] Read more.

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. Full article

(This article belongs to the Special Issue Clinical Advances in Male Genitourinary and Sexual Health)

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12 pages, 362 KiB

Open AccessArticle

The Predictive Value of Red Cell Distribution Width in End-Stage Colorectal Cancers’ 6-Month Palliative Chemotherapy Response—A Single Center’s Experience

by Maciej Jankowski, Krystyna Bratos, Joanna Wawer and Tomasz Urbanowicz

J. Pers. Med. 2025, 15(8), 359; https://doi.org/10.3390/jpm15080359 - 7 Aug 2025

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Abstract

Backgrounds: 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 [...] Read more.

Backgrounds: 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. Patients and Methods: 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. Results: The multivariable model revealed red cell distribution width (RDW) from peripheral blood analysis (OR: 0.81, 95% CI: 0.65–1.00, p = 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%. Conclusions: 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. Full article

(This article belongs to the Special Issue Precision Medicine for Digestive Diseases)

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15 pages, 2070 KiB

Open AccessArticle

Machine Learning for Personalized Prediction of Electrocardiogram (EKG) Use in Emergency Care

by Hairong Wang and Xingyu Zhang

J. Pers. Med. 2025, 15(8), 358; https://doi.org/10.3390/jpm15080358 - 6 Aug 2025

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Abstract

Background: 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 [...] Read more.

Background: 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. Methods: 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. Results: 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. Conclusions: 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. Full article

(This article belongs to the Special Issue Machine Learning in Epidemiology)

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14 pages, 1032 KiB

Open AccessArticle

Impact of Donor Age on Graft Failure After Deceased Donor Liver Transplantation by Donor-Recipient Sex Combinations: An Analysis of the UNOS OPTN Database

by 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 and Ju-Dong Yang

J. Pers. Med. 2025, 15(8), 357; https://doi.org/10.3390/jpm15080357 - 5 Aug 2025

Viewed by 192

Abstract

Background 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 [...] Read more.

Background 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. Methods 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. Results 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], p < 0.001; vs. male-to-female, HR = 1.46 [1.18–1.81], p < 0.001; vs. male-to-male, HR = 1.26 [1.16–1.49], p = 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, p = 0.907; vs. male-to-female, p = 0.781; vs. male-to-male, p = 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. Conclusions 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. Full article

(This article belongs to the Special Issue Sex and Gender-Related Issues in the Era of Personalized Medicine)

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17 pages, 829 KiB

Open AccessReview

The Carotid Siphon as a Pulsatility Modulator for Brain Protection: Role of Arterial Calcification Formation

by Pim A. de Jong, Daniel Bos, Huiberdina L. Koek, Pieter T. Deckers, Netanja I. Harlianto, Ynte M. Ruigrok, Wilko Spiering, Jaco Zwanenburg and Willem P.Th.M. Mali

J. Pers. Med. 2025, 15(8), 356; https://doi.org/10.3390/jpm15080356 - 4 Aug 2025

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Abstract

A healthy vasculature with well-regulated perfusion and pulsatility is essential for the brain. One vascular structure that has received little attention is the carotid siphon. The proximal portion of the siphon is stiff due to the narrow location in the skull base, whilst [...] Read more.

A healthy vasculature with well-regulated perfusion and pulsatility is essential for the brain. One vascular structure that has received little attention is the carotid siphon. The proximal portion of the siphon is stiff due to the narrow location in the skull base, whilst the distal portion is highly flexible. This flexible part in combination with the specific curves lead to lower pulsatility at the cost of energy deposition in the arterial wall. This deposited energy contributes to damage and calcification. Severe siphon calcification stiffens the distal part of the siphon, leading to less damping of the pulsatility. Increased blood flow pulsatility is a possible cause of stroke and cognitive disorders. In this review, based on comprehensive multimodality imaging, we first describe the anatomy and physiology of the carotid siphon. Subsequently, we review the in vivo imaging data, which indeed suggest that the siphon attenuates pulsatility. Finally, the data as available in the literature are shown to provide convincing evidence that severe siphon calcifications and the calcification pattern are linked to incident stroke and dementia. Interventional studies are required to test whether this association is causal and how an assessment of pulsatility and the siphon calcification pattern can improve personalized medicine, working to prevent and treat brain disease. Full article

(This article belongs to the Special Issue Advances in Cardiothoracic Surgery)

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20 pages, 1622 KiB

Open AccessReview

Behavioural Cardiology: A Review on an Expanding Field of Cardiology—Holistic Approach

by Christos Fragoulis, Maria-Kalliopi Spanorriga, Irini Bega, Andreas Prentakis, Evangelia Kontogianni, Panagiotis-Anastasios Tsioufis, Myrto Palkopoulou, John Ntalakouras, Panagiotis Iliakis, Ioannis Leontsinis, Kyriakos Dimitriadis, Dimitris Polyzos, Christina Chrysochoou, Antonios Politis and Konstantinos Tsioufis

J. Pers. Med. 2025, 15(8), 355; https://doi.org/10.3390/jpm15080355 - 4 Aug 2025

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Abstract

Cardiovascular disease (CVD) remains Europe’s leading cause of mortality, responsible for >45% of deaths. Beyond established risk factors (hypertension, diabetes, dyslipidaemia, smoking, obesity), psychosocial elements—depression, anxiety, financial stress, personality traits, and trauma—significantly influence CVD development and progression. Behavioural Cardiology addresses this connection by [...] Read more.

Cardiovascular disease (CVD) remains Europe’s leading cause of mortality, responsible for >45% of deaths. Beyond established risk factors (hypertension, diabetes, dyslipidaemia, smoking, obesity), psychosocial elements—depression, anxiety, financial stress, personality traits, and trauma—significantly influence CVD development and progression. Behavioural Cardiology addresses this connection by systematically incorporating psychosocial factors into prevention and rehabilitation protocols. This review examines the HEARTBEAT model, developed by Greece’s first Behavioural Cardiology Unit, which aligns with current European guidelines. The model serves dual purposes: primary prevention (targeting at-risk individuals) and secondary prevention (treating established CVD patients). It is a personalised medicine approach that integrates psychosocial profiling with traditional risk assessment, utilising tailored evaluation tools, caregiver input, and multidisciplinary collaboration to address personality traits, emotional states, socioeconomic circumstances, and cultural contexts. The model emphasises three critical implementation aspects: (1) digital health integration, (2) cost-effectiveness analysis, and (3) healthcare system adaptability. Compared to international approaches, it highlights research gaps in psychosocial interventions and advocates for culturally sensitive adaptations, particularly in resource-limited settings. Special consideration is given to older populations requiring tailored care strategies. Ultimately, Behavioural Cardiology represents a transformative systems-based approach bridging psychology, lifestyle medicine, and cardiovascular treatment. This integration may prove pivotal for optimising chronic disease management through personalised interventions that address both biological and psychosocial determinants of cardiovascular health. Full article

(This article belongs to the Special Issue Personalized Diagnostics and Therapy for Cardiovascular Diseases)

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11 pages, 579 KiB

Open AccessCase Report

Thirty-Three Years Follow-Up of a Greek Family with Abetalipoproteinemia: Absence of Liver Damage on Long-Term Medium Chain Triglycerides Supplementation

by John K. Triantafillidis, Areti Manioti, Theodoros Pittaras, Theodoros Kozonis, Emmanouil Kritsotakis, Georgios Malgarinos, Konstantinos Pantos, Konstantinos Sfakianoudis, Manousos M. Konstadoulakis and Apostolos E. Papalois

J. Pers. Med. 2025, 15(8), 354; https://doi.org/10.3390/jpm15080354 - 4 Aug 2025

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Abstract

Background: 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. [...] Read more.

Background: 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. Full article

(This article belongs to the Special Issue Clinical and Experimental Surgery in Personalized Molecular Medicine)

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10 pages, 430 KiB

Open AccessArticle

Anteroposterior Diameter Is Associated with Conversion from Right Minithoracotomy to Median Sternotomy in Minimally Invasive Cardiac Surgery

by Quynh Nguyen, Durr Al-Hakim and Richard C. Cook

J. Pers. Med. 2025, 15(8), 353; https://doi.org/10.3390/jpm15080353 - 4 Aug 2025

Viewed by 213

Abstract

Background: Minimally invasive cardiac surgery (MICS) via right minithoracotomy is a safe, reproducible approach with excellent outcomes and reduced costs compared to median sternotomy. Despite careful patient selection, conversion to sternotomy occurs in 1–3% of cases and is associated with significantly higher [...] Read more.

Background: Minimally invasive cardiac surgery (MICS) via right minithoracotomy is a safe, reproducible approach with excellent outcomes and reduced costs compared to median sternotomy. Despite careful patient selection, conversion to sternotomy occurs in 1–3% of cases and is associated with significantly higher morbidity and mortality. Small body habitus, particularly a short anteroposterior (AP) diameter, may increase the risk of conversion, but this has not been previously studied. This study aims to identify preoperative factors associated with conversion to improve patient selection for MICS. As cardiovascular surgery becomes increasingly personalized, identifying anatomical factors that predict technical complexity is essential. Methods: This retrospective study included 254 adult patients who underwent elective MICS between 2015 and 2024 at a tertiary hospital. Patient characteristics, computed tomography (CT) scans, intraoperative parameters, and postoperative outcomes were reviewed. AP diameter was defined as the distance from the posterior sternum to the anterior vertebral body at the mitral valve level on CT. Statistical analyses included Mann−Whitney and Fisher’s exact/chi-square tests. Results: Conversion to sternotomy occurred in 1.6% of patients (n = 4). All converted patients were female. The converted group had a significantly shorter median AP diameter (100 mm vs. 124 mm, p = 0.020). Conversion was associated with higher rates of stroke and infection (25.0% vs. 0.8%, p = 0.047 for both), but no significant differences in hospital stay, bleeding, or renal failure. Conclusions: An AP diameter of less than 100 mm was associated with a higher risk of conversion to sternotomy in MICS. Incorporating simple, reproducible preoperative imaging metrics into surgical planning may advance precision-guided cardiac surgery and optimize patient outcomes. Full article

(This article belongs to the Special Issue Clinical Progress in Personalized Management of Cardiac Surgery)

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17 pages, 2487 KiB

Open AccessArticle

Personalized Language Training and Bi-Hemispheric tDCS Improve Language Connectivity in Chronic Aphasia: A fMRI Case Study

by Sandra Carvalho, Augusto J. Mendes, José Miguel Soares, Adriana Sampaio and Jorge Leite

J. Pers. Med. 2025, 15(8), 352; https://doi.org/10.3390/jpm15080352 - 3 Aug 2025

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Abstract

Background: Transcranial direct current stimulation (tDCS) has emerged as a promising neuromodulatory tool for language rehabilitation in chronic aphasia. However, the effects of bi-hemispheric, multisite stimulation remain largely unexplored, especially in people with chronic and treatment-resistant language impairments. The goal of this [...] Read more.

Background: Transcranial direct current stimulation (tDCS) has emerged as a promising neuromodulatory tool for language rehabilitation in chronic aphasia. However, the effects of bi-hemispheric, multisite stimulation remain largely unexplored, especially in people with chronic and treatment-resistant language impairments. The goal of this study is to look at the effects on behavior and brain activity of an individualized language training program that combines bi-hemispheric multisite anodal tDCS with personalized language training for Albert, a patient with long-standing, treatment-resistant non-fluent aphasia. Methods: Albert, a right-handed retired physician, had transcortical motor aphasia (TCMA) subsequent to a left-hemispheric ischemic stroke occurring more than six years before the operation. Even after years of traditional treatment, his expressive and receptive language deficits remained severe and persistent despite multiple rounds of traditional therapy. He had 15 sessions of bi-hemispheric multisite anodal tDCS aimed at bilateral dorsal language streams, administered simultaneously with language training customized to address his particular phonological and syntactic deficiencies. Psycholinguistic evaluations were performed at baseline, immediately following the intervention, and at 1, 2, 3, and 6 months post-intervention. Resting-state fMRI was conducted at baseline and following the intervention to evaluate alterations in functional connectivity (FC). Results: We noted statistically significant enhancements in auditory sentence comprehension and oral reading, particularly at the 1- and 3-month follow-ups. Neuroimaging showed decreased functional connectivity (FC) in the left inferior frontal and precentral regions (dorsal stream) and in maladaptive right superior temporal regions, alongside increased FC in left superior temporal areas (ventral stream). This pattern suggests that language networks may be reorganizing in a more efficient way. There was no significant improvement in phonological processing, which may indicate reduced connectivity in the left inferior frontal areas. Conclusions: This case underscores the potential of combining individualized, network-targeted language training with bi-hemispheric multisite tDCS to enhance recovery in chronic, treatment-resistant aphasia. The convergence of behavioral gains and neuroplasticity highlights the importance of precision neuromodulation approaches. However, findings are preliminary and warrant further validation through controlled studies to establish broader efficacy and sustainability of outcomes. Full article

(This article belongs to the Special Issue Personalized Medicine in Neuroscience: Molecular to Systems Approach)

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18 pages, 881 KiB

Open AccessSystematic Review

Association of Single Nucleotide Polymorphisms in the Cyclooxygenase-2 (COX-2) Gene with Periodontal Disease—A Systematic Review with Meta-Analysis and Implications for Personalized Dentistry

by Vasiliki Savva, Ioannis Fragkioudakis and Dimitra Sakellari

J. Pers. Med. 2025, 15(8), 351; https://doi.org/10.3390/jpm15080351 - 3 Aug 2025

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Abstract

Background: Genetic polymorphisms in the cyclooxygenase-2 (COX-2) gene may contribute to individual susceptibility to periodontal disease. A meta-analysis assessed the association between three COX-2 single-nucleotide polymorphisms (SNPs) namely, −765 G/C (rs20417), −1195 G/A (rs689466), and 8473 T/C (rs5275), and the risk of CP. [...] Read more.

Background: Genetic polymorphisms in the cyclooxygenase-2 (COX-2) gene may contribute to individual susceptibility to periodontal disease. A meta-analysis assessed the association between three COX-2 single-nucleotide polymorphisms (SNPs) namely, −765 G/C (rs20417), −1195 G/A (rs689466), and 8473 T/C (rs5275), and the risk of CP. Methods: Following the PRISMA 2020 guidelines, we conducted a comprehensive search of five electronic databases and additional sources. The eligible studies were observational (case–control or cohort) with genotypic data comparing individuals with periodontal disease and periodontally healthy controls. Methodological quality was assessed using the Newcastle–Ottawa Scale (NOS), and the certainty of evidence was evaluated via the GRADE framework. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated under dominant genetic models. Results: Seven studies (n = 1467 participants) met the inclusion criteria. No eligible studies evaluated the 8473 T/C SNP. The meta-analysis of the −765 G/C variant revealed a significant association with periodontal disease (OR = 1.61; 95% CI: 1.12–2.32, p = 0.03; I² = 0%). For the −1195 G/A variant, the pooled OR was 1.86 (95% CI: 1.00–3.43, p = 0.05; I² = 35%), suggesting a borderline significant association. The certainty of evidence was graded as moderate for −765 G/C and low for −1195 G/A. Conclusions: The COX-2 −765 G/C polymorphism is significantly associated with increased CP risk, while the −1195 G/A variant shows a potential, though less certain, link. Larger, high-quality studies using standardized classifications are needed to confirm these associations. Full article

(This article belongs to the Section Omics/Informatics)

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16 pages, 332 KiB

Open AccessSystematic Review

Blood Biomarkers as Optimization Tools for Computed Tomography in Mild Traumatic Brain Injury Management in Emergency Departments: A Systematic Review

by Ángela Caballero Ballesteros, María Isabel Alonso Gallardo and Juan Mora-Delgado

J. Pers. Med. 2025, 15(8), 350; https://doi.org/10.3390/jpm15080350 - 3 Aug 2025

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Abstract

Background/Objectives: Traumatic brain injury (TBI), especially mild TBI (mTBI), is frequently caused by traffic accidents, falls, or sports injuries. Although computed tomography (CT) is the gold standard for diagnosis, overuse can lead to unnecessary radiation exposure, increased healthcare costs, and emergency department saturation. [...] Read more.

Background/Objectives: Traumatic brain injury (TBI), especially mild TBI (mTBI), is frequently caused by traffic accidents, falls, or sports injuries. Although computed tomography (CT) is the gold standard for diagnosis, overuse can lead to unnecessary radiation exposure, increased healthcare costs, and emergency department saturation. Blood-based biomarkers have emerged as potential tools to optimize CT scan use. This systematic review aims to evaluate recent evidence on the role of specific blood biomarkers in guiding CT decisions in patients with mTBI. Methods: A systematic search was conducted in the PubMed, Cochrane, and CINAHL databases for studies published between 2020 and 2024. Inclusion criteria focused on adult patients with mTBI evaluated using both CT imaging and at least one of the following biomarkers: glial fibrillary acidic protein (GFAP), ubiquitin carboxy-terminal hydrolase L1 (UCH-L1), and S100 calcium-binding protein B (S100B). After screening, six studies were included in the final review. Results: All included studies reported high sensitivity and negative predictive value for the selected biomarkers in detecting clinically relevant intracranial lesions. GFAP and UCH-L1, particularly in combination, consistently identified low-risk patients who could potentially forgo CT scans. While S100B also showed high sensitivity, discrepancies in cutoff values across studies highlighted the need for harmonization. Conclusions: Blood biomarkers such as GFAP, UCH-L1, and S100B demonstrate strong potential to reduce unnecessary CT imaging in mTBI by identifying patients at low risk of significant brain injury. Future research should focus on standardizing biomarker thresholds and validating protocols to support their integration into clinical practice guidelines. Full article

(This article belongs to the Special Issue Traumatic Brain Injury: Complications and Outcomes of Precision Medicine)

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13 pages, 739 KiB

Open AccessArticle

Improved Precision of COPD Exacerbation Detection in Night-Time Cough Monitoring

by Albertus C. den Brinker, Susannah Thackray-Nocera, Michael G. Crooks and Alyn H. Morice

J. Pers. Med. 2025, 15(8), 349; https://doi.org/10.3390/jpm15080349 - 2 Aug 2025

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Abstract

Background/Objectives: Targeting individuals with certain characteristics provides improved precision in many healthcare applications. An alert mechanism for COPD exacerbations has recently been validated. It has been argued that its efficacy improves considerably with stratification. This paper provides an in-depth analysis of the cough [...] Read more.

Background/Objectives: Targeting individuals with certain characteristics provides improved precision in many healthcare applications. An alert mechanism for COPD exacerbations has recently been validated. It has been argued that its efficacy improves considerably with stratification. This paper provides an in-depth analysis of the cough data of the stratified cohort to identify options for and the feasibility of improved precision in the alert mechanism for the intended patient group. Methods: The alert system was extended using a system complementary to the existing one to accommodate observed rapid changes in cough trends. The designed system was tested in a post hoc analysis of the data. The trend data were inspected to consider their meaningfulness for patients and caregivers. Results: While stratification was effective in reducing misses, the augmented alert system improved the sensitivity and number of early alerts for the acute exacerbation of COPD (AE-COPD). The combination of stratification and the augmented mechanism led to sensitivity of 86%, with a false alert rate in the order of 1.5 per year in the target group. The alert system is rule-based, operating on interpretable signals that may provide patients or their caregivers with better insights into the respiratory condition. Conclusions: The augmented alert system operating based on cough trends has the promise of increased precision in detecting AE-COPD in the target group. Since the design and testing of the augmented system were based on the same data, the system needs to be validated. Signals within the alert system are potentially useful for improved self-management in the target group. Full article

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11 pages, 814 KiB

Open AccessArticle

Validity and Reliability of the Singer Reflux Symptom Score (sRSS)

by Jérôme R. Lechien

J. Pers. Med. 2025, 15(8), 348; https://doi.org/10.3390/jpm15080348 - 2 Aug 2025

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Abstract

Objectives: To investigate the reliability and validity of the Singer Reflux Symptom Score (sRSS), a new patient-reported outcome questionnaire documenting the severity of reflux symptoms in singing voice is proposed. Methods: Amateur and professional singers consulting the European Reflux Clinic for [...] Read more.

Objectives: To investigate the reliability and validity of the Singer Reflux Symptom Score (sRSS), a new patient-reported outcome questionnaire documenting the severity of reflux symptoms in singing voice is proposed. Methods: Amateur and professional singers consulting the European Reflux Clinic for laryngopharyngeal reflux disease (LPRD) symptoms and findings were prospectively recruited from January 2022 to February 2023. The diagnosis was based on a Reflux Symptom Score (RSS) > 13 and Reflux Sign Assessment (RSA) > 14. A control group of asymptomatic singer subjects was recruited from the University of Mons. The sRSS was rated within a 7-day period to assess test–retest reliability. Internal consistency was measured using Cronbach’s α in patients and controls. A correlation analysis was performed between sRSS and Singing Voice Handicap Index (sVHI) to evaluate convergent validity. Responsiveness to change was evaluated through pre- to post-treatment sRSS changes. The sRSS threshold for suggesting a significant impact of LPRD on singing voice was determined by receiver operating characteristic (ROC) analysis. Results: Thirty-three singers with suspected LPRD (51.5% female; mean age: 51.8 ± 17.2 years) were consecutively recruited. Difficulty reaching high notes and vocal fatigue were the most prevalent LPRD-related singing complaints. The sRSS demonstrated high internal consistency (Cronbach-α = 0.832), test–retest reliability, and external validity (correlation with sVHI: r = 0.654; p = 0.015). Singers with suspected LPRD reported a significant higher sRSS compared to 68 controls. sRSS item and total scores significantly reduced from pre-treatment to 3 months post-treatment except for the abnormal voice breathiness item. ROC analysis revealed superior diagnostic accuracy for sRSS (AUC = 0.971) compared to sRSS-quality of life (AUC = 0.926), with an optimal cutoff at sRSS > 38.5 (sensitivity: 90.3%; specificity: 85.0%). Conclusions: The sRSS is a reliable and valid singer-reported outcome questionnaire for documenting singing symptoms associated with LPRD leading to personalized management of Singers. Future large-cohort studies are needed to evaluate its specificity for LPRD compared to other vocal fold disorders in singers. Full article

(This article belongs to the Special Issue Otolaryngology in Clinical Practice: The Necessity of Personalized Medicine)

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16 pages, 1690 KiB

Open AccessArticle

Effect of Photobiomodulation on Post-Endodontic Pain Following Single-Visit Treatment: A Randomized Double-Blind Clinical Trial

by Glaucia Gonçales Abud Machado, Giovanna Fontgalland Ferreira, Erika da Silva Mello, Ellen Sayuri Ando-Suguimoto, Vinicius Leão Roncolato, Marcia Regina Cabral Oliveira, Janainy Altrão Tognini, Adriana Fernandes Paisano, Cleber Pinto Camacho, Sandra Kalil Bussadori, Lara Jansiski Motta, Cinthya Cosme Gutierrez Duran, Raquel Agnelli Mesquita-Ferrari, Kristianne Porta Santos Fernandes and Anna Carolina Ratto Tempestini Horliana

J. Pers. Med. 2025, 15(8), 347; https://doi.org/10.3390/jpm15080347 - 2 Aug 2025

Viewed by 253

Abstract

The evidence for photobiomodulation in reducing postoperative pain after endodontic instrumentation is classified as low or very low certainty, indicating a need for further research. Longitudinal pain assessments over 24 h are crucial, and studies should explore these pain periods. Background/Objectives: This [...] Read more.

The evidence for photobiomodulation in reducing postoperative pain after endodontic instrumentation is classified as low or very low certainty, indicating a need for further research. Longitudinal pain assessments over 24 h are crucial, and studies should explore these pain periods. Background/Objectives: This double-blind, randomized controlled clinical trial evaluated the effect of PBM on pain following single-visit endodontic treatment of maxillary molars at 4, 8, 12, and 24 h. Primary outcomes included pain at 24 h; secondary outcomes included pain at 4, 8, and 12 h, pain during palpation/percussion, OHIP-14 analysis, and frequencies of pain. Methods: Approved by the Research Ethics Committee (5.598.290) and registered in Clinical Trials (NCT06253767), the study recruited adults (21–70 years) requiring endodontic treatment in maxillary molars. Fifty-eight molars were randomly assigned to two groups: the PBM Group (n = 29), receiving conventional endodontic treatment with PBM (100 mW, 333 mW/cm², 9 J distributed at 3 points near root apices), and the control group (n = 29), receiving conventional treatment with PBM simulation. Pain was assessed using the Visual Analog Scale. Results: Statistical analyses used chi-square and Mann–Whitney tests, with explained variance (η²). Ten participants were excluded, leaving 48 patients for analysis. No significant differences were observed in postoperative pain at 24, 4, 8, or 12 h, or in palpation/percussion or OHIP-14 scores. Pain frequencies ranged from 12.5% to 25%. Conclusions: PBM does not influence post-treatment pain in maxillary molars under these conditions. These results emphasize the importance of relying on well-designed clinical trials to guide treatment decisions, and future research should focus on personalized dosimetry adapted to the anatomical characteristics of the treated dental region to enhance the accuracy and efficacy of therapeutic protocols. Full article

(This article belongs to the Special Issue Towards Precision Anesthesia and Pain Management)

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18 pages, 2892 KiB

Open AccessReview

Roles of Type 10 17β-Hydroxysteroid Dehydrogenase in Health and Disease

by Xue-Ying He, Janusz Frackowiak and Song-Yu Yang

J. Pers. Med. 2025, 15(8), 346; https://doi.org/10.3390/jpm15080346 - 1 Aug 2025

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Abstract

Type 10 17β-hydroxysteroid dehydrogenase (17β-HSD10) is the HSD17B10 gene product. It plays an appreciable part in the carcinogenesis and pathogenesis of neurodegeneration, such as Alzheimer’s disease and infantile neurodegeneration. This mitochondrial, homo-tetrameric protein is a central hub in various metabolic pathways, e.g., branched-chain [...] Read more.

Type 10 17β-hydroxysteroid dehydrogenase (17β-HSD10) is the HSD17B10 gene product. It plays an appreciable part in the carcinogenesis and pathogenesis of neurodegeneration, such as Alzheimer’s disease and infantile neurodegeneration. This mitochondrial, homo-tetrameric protein is a central hub in various metabolic pathways, e.g., branched-chain amino acid degradation and neurosteroid metabolism. It can bind to other proteins carrying out diverse physiological functions, e.g., tRNA maturation. It has also previously been proposed to be an Aβ-binding alcohol dehydrogenase (ABAD) or endoplasmic reticulum-associated Aβ-binding protein (ERAB), although those reports are controversial due to data analyses. For example, the reported k_m value of some substrate of ABAD/ERAB was five times higher than its natural solubility in the assay employed to measure k_m. Regarding any reported “one-site competitive inhibition” of ABAD/ERAB by Aβ, the k_i value estimations were likely impacted by non-physiological concentrations of 2-octanol at high concentrations of vehicle DMSO and, therefore, are likely artefactual. Certain data associated with ABAD/ERAB were found not reproducible, and multiple experimental approaches were undertaken under non-physiological conditions. In contrast, 17β-HSD10 studies prompted a conclusion that Aβ inhibited 17β-HSD10 activity, thus harming brain cells, replacing a prior supposition that “ABAD” mediates Aβ neurotoxicity. Furthermore, it is critical to find answers to the question as to why elevated levels of 17β-HSD10, in addition to Aβ and phosphorylated Tau, are present in the brains of AD patients and mouse AD models. Addressing this question will likely prompt better approaches to develop treatments for Alzheimer’s disease. Full article

(This article belongs to the Special Issue Precision Medicine in Neurodevelopmental Disorders: Challenges and Opportunities)

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21 pages, 360 KiB

Open AccessReview

Prognostic Models in Heart Failure: Hope or Hype?

by Spyridon Skoularigkis, Christos Kourek, Andrew Xanthopoulos, Alexandros Briasoulis, Vasiliki Androutsopoulou, Dimitrios Magouliotis, Thanos Athanasiou and John Skoularigis

J. Pers. Med. 2025, 15(8), 345; https://doi.org/10.3390/jpm15080345 - 1 Aug 2025

Viewed by 277

Abstract

Heart failure (HF) poses a substantial global burden due to its high morbidity, mortality, and healthcare costs. Accurate prognostication is crucial for optimizing treatment, resource allocation, and patient counseling. Prognostic tools range from simple clinical scores such as ADHERE and MAGGIC to more [...] Read more.

Heart failure (HF) poses a substantial global burden due to its high morbidity, mortality, and healthcare costs. Accurate prognostication is crucial for optimizing treatment, resource allocation, and patient counseling. Prognostic tools range from simple clinical scores such as ADHERE and MAGGIC to more complex models incorporating biomarkers (e.g., NT-proBNP, sST2), imaging, and artificial intelligence techniques. In acute HF, models like EHMRG and STRATIFY aid early triage, while in chronic HF, tools like SHFM and BCN Bio-HF support long-term management decisions. Despite their utility, most models are limited by poor generalizability, reliance on static inputs, lack of integration into electronic health records, and underuse in clinical practice. Novel approaches involving machine learning, multi-omics profiling, and remote monitoring hold promise for dynamic and individualized risk assessment. However, these innovations face challenges regarding interpretability, validation, and ethical implementation. For prognostic models to transition from theoretical promise to practical impact, they must be continuously updated, externally validated, and seamlessly embedded into clinical workflows. This review emphasizes the potential of prognostic models to transform HF care but cautions against uncritical adoption without robust evidence and practical integration. In the evolving landscape of HF management, prognostic models represent a hopeful avenue, provided their limitations are acknowledged and addressed through interdisciplinary collaboration and patient-centered innovation. Full article

(This article belongs to the Special Issue Personalized Treatment for Heart Failure)

12 pages, 501 KiB

Open AccessArticle

Effect of Sarcopenia on the Outcomes of Radiofrequency Ablation of Medial Branch Nerves for Lumbar Facet Arthropathy in Patients Aged 60 Years and Older: A Retrospective Analysis

by Seung Hee Yoo and Won-Joong Kim

J. Pers. Med. 2025, 15(8), 344; https://doi.org/10.3390/jpm15080344 - 1 Aug 2025

Viewed by 206

Abstract

Background/Objectives: Sarcopenia is defined by the progressive loss of muscle mass, strength, and/or physical performance associated with aging. Radiofrequency ablation (RFA) of the medial branch nerves is a well-established and effective treatment for lumbar facetogenic pain. While sarcopenia is associated with poor [...] Read more.

Background/Objectives: Sarcopenia is defined by the progressive loss of muscle mass, strength, and/or physical performance associated with aging. Radiofrequency ablation (RFA) of the medial branch nerves is a well-established and effective treatment for lumbar facetogenic pain. While sarcopenia is associated with poor outcomes following epidural steroid injections and lumbar spine surgeries, its impact on clinical outcomes in patients undergoing RFA for facetogenic pain remains unexplored. This study aims to evaluate the influence of sarcopenia on treatment outcomes in this patient cohort. Methods: Patients were classified into sarcopenia (n = 35) and non-sarcopenia groups (n = 67) based on predefined psoas muscle index (PMI) thresholds. The primary outcomes included changes in back pain intensity and the proportion of responders at 1, 3, and 6 months following RFA. The secondary outcome was to identify demographic, clinical, and sarcopenia-related factors predictive of treatment response at each follow-up interval. Results: Both groups demonstrated statistically significant improvements in pain scores compared to baseline at all follow-up points. However, the median pain scores at 3 months post-RFA remained significantly higher in the sarcopenia group. Despite this, the proportion of responders did not differ significantly between the two groups at any time point. At 3 months, the absence of prior spinal surgery was identified as a significant predictor of treatment response. At 6 months, favorable outcomes were significantly associated with the absence of diabetes, no history of spinal surgery, and a higher PMI. Conclusions: Sarcopenia may influence the extent of pain improvement following medial branch nerve RFA. Additionally, patient-specific factors, such as diabetes, prior spinal surgery, and PMI, should be considered when predicting treatment outcomes. Full article

(This article belongs to the Special Issue New Insight into Aging and Geriatric Syndromes: Clinical Updates and Perspectives)

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8 pages, 208 KiB

Open AccessArticle

Multiple Primary Melanomas: Clinical and Genetic Insights for Risk-Stratified Surveillance in a Tertiary Center

by Marta Cebolla-Verdugo, Francisco Manuel Almazán-Fernández, Francisco Ramos-Pleguezuelos and Ricardo Ruiz-Villaverde

J. Pers. Med. 2025, 15(8), 343; https://doi.org/10.3390/jpm15080343 - 1 Aug 2025

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Abstract

Background: Patients diagnosed with melanoma are at increased risk of developing multiple primary melanomas (MPMs). Identifying clinical and genetic factors associated with MPM is critical for implementing personalized surveillance strategies. This study aims to describe the clinical, histopathological, and genetic characteristics of patients [...] Read more.

Background: Patients diagnosed with melanoma are at increased risk of developing multiple primary melanomas (MPMs). Identifying clinical and genetic factors associated with MPM is critical for implementing personalized surveillance strategies. This study aims to describe the clinical, histopathological, and genetic characteristics of patients with MPM managed in a tertiary hospital and to contextualize findings within the current literature. Methods: We conducted a retrospective review of patients diagnosed with two or more primary melanomas between 2010 and 2023 at a tertiary dermatology unit. Demographic data, personal and family cancer history, phototype, melanoma characteristics, genetic testing, staging, treatments, and outcomes were collected. These data were compared with findings from the recent literature. Results: Thirteen patients (ten males, three females; median age: 59 years) were found to have a total of 33 melanomas. Most patients had Fitzpatrick phototype II and no immunosuppression. The number of melanomas per patient ranged from two to five. Synchronous lesions were observed in two patients. Common locations included the trunk and extremities. Histologically, 57% were in situ melanomas, and subsequent melanomas were generally thinner than the index lesion. Two patients showed progression to advanced disease. One patient was positive for MC1R mutation; the rest were negative or inconclusive. Additional phenotypic and environmental risk factors were extracted from patient records and are summarized as follows: Ten patients (76.9%) had Fitzpatrick skin phototype II, and three (23.1%) had phototype III. Chronic occupational sun exposure was reported in four patients (30.8%), while five (38.5%) recalled having suffered multiple sunburns during childhood or adolescence. Eight patients (61.5%) presented with a total nevus count exceeding 50, and five (38.5%) exhibited clinically atypical nevi. None of the patients reported use of tanning beds. Conclusions: Our findings are consistent with the existing literature indicating that patients with MPM often present with thinner subsequent melanomas and require long-term dermatologic follow-up. The inclusion of genetic testing and phenotypic risk factors enables stratified surveillance and supports the application of personalized medicine in melanoma management. Full article

(This article belongs to the Special Issue Clinical Advances in Dermatology: Pathophysiology, Diagnosis and Treatment)

11 pages, 577 KiB

Open AccessSystematic Review

Hallux Sesamoid Nonunion: A Comprehensive Systematic Review of Current Evidence

by Elena Artioli, Antonio Mazzotti, Gianmarco Di Paola, Federico Sgubbi, Gianmarco Gemini, Simone Ottavio Zielli and Cesare Faldini

J. Pers. Med. 2025, 15(8), 342; https://doi.org/10.3390/jpm15080342 - 1 Aug 2025

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Abstract

Introduction: The optimal management of hallux sesamoid fracture nonunions remains a subject of ongoing debate, particularly in the context of personalized medicine. This systematic review aimed to synthesize current evidence regarding surgical strategies for this rare but disabling condition. Methods: A comprehensive literature [...] Read more.

Introduction: The optimal management of hallux sesamoid fracture nonunions remains a subject of ongoing debate, particularly in the context of personalized medicine. This systematic review aimed to synthesize current evidence regarding surgical strategies for this rare but disabling condition. Methods: A comprehensive literature search was conducted in accordance with the PRISMA guidelines. Results: Six studies met the inclusion criteria, encompassing a total of 80 patients. Surgical techniques varied and included open and arthroscopic sesamoidectomy, autologous bone grafting (alone or combined with screw fixation), and percutaneous screw fixation. When reported, outcomes were generally favorable, with union rates ranging from 90.5% to 100% and with consistent postoperative improvements in clinical function. Complication and reoperation rates were both 6.5%. The most frequent reoperation was sesamoidectomy for persistent pain or nonunion, followed by hardware removal. Conclusions: Despite the limited and low-quality evidence, available data suggest that individualized surgical planning can lead to favorable outcomes with low complication rates. Sesamoidectomy remains the most reliable salvage procedure in refractory cases. These findings support a personalized, stepwise approach to treatment—prioritizing sesamoid preservation, when feasible, while reserving excision for symptomatic nonunions. Further studies are needed to validate tailored algorithms and refine patient-specific decision-making in this challenging clinical scenario. Full article

(This article belongs to the Special Issue Orthopedic Trauma: New Perspectives and Innovative Techniques)

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18 pages, 385 KiB

Open AccessReview

Fetal Supraventricular Tachycardia: What Do We Know up to This Day?

by Sophia Tsokkou, Ioannis Konstantinidis, Vasileios Anastasiou, Alkis Matsas, Eleni Stamoula, Emmanuela Peteinidou, Antonia Sioga, Theodora Papamitsou, Antonios Ziakas and Vasileios Kamperidis

J. Pers. Med. 2025, 15(8), 341; https://doi.org/10.3390/jpm15080341 - 1 Aug 2025

Cited by 1 | Viewed by 234

Abstract

Fetal tachyarrhythmias, particularly supraventricular tachycardia (SVT) and atrial flutter (AFL), pose significant clinical challenges, especially when complicated by hydrops fetalis. This article provides a comprehensive review of the tachyarrhythmia types, the diagnostic modalities applied, and the therapeutic strategies followed in fetal tachyarrhythmias. Diagnostic [...] Read more.

Fetal tachyarrhythmias, particularly supraventricular tachycardia (SVT) and atrial flutter (AFL), pose significant clinical challenges, especially when complicated by hydrops fetalis. This article provides a comprehensive review of the tachyarrhythmia types, the diagnostic modalities applied, and the therapeutic strategies followed in fetal tachyarrhythmias. Diagnostic techniques such as M-mode echocardiography and fetal magnetocardiography (fMCG) are highlighted for their capacity to provide real-time, high-quality assessments of fetal cardiac rhythms. The review, also, focuses on pharmacologic management via transplacental therapy, discussing the safety and efficacy of the key agents including digoxin, flecainide, and sotalol, under different clinical scenarios, such as hydropic fetus and renal impairment. In addition to transplacental administration, alternative approaches such as direct fetal intramuscular or intravascular injections are examined. These direct methods, while potentially more effective in refractory cases, carry risks that necessitate specialized expertise and careful consideration of maternal and fetal safety. The limitations of current evidence, largely based on small case studies and retrospective analyses, underscore the need for larger, prospective multicenter observational studies and randomized control trials to establish standardized protocols for fetal tachyarrhythmia management. Overall, this review advocates for a personalized, multidisciplinary approach, emphasizing early fetal tachyarrhythmias diagnosis, tailored treatment regimens that balances efficacy with safety, and rigorous monitoring to optimize outcomes for both the fetus and the mother. Full article

(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Maternal Fetal Medicine)

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12 pages, 1302 KiB

Open AccessArticle

Exploring the Relationship Between Insulin Resistance, Liver Health, and Restrictive Lung Diseases in Type 2 Diabetes

by Mani Roshan, Christian Mudrack, Alba Sulaj, Ekaterina von Rauchhaupt, Thomas Fleming, Lukas Schimpfle, Lukas Seebauer, Viktoria Flegka, Valter D. Longo, Elisabeth Kliemank, Stephan Herzig, Anna Hohneck, Zoltan Kender, Julia Szendroedi and Stefan Kopf

J. Pers. Med. 2025, 15(8), 340; https://doi.org/10.3390/jpm15080340 - 1 Aug 2025

Viewed by 261

Abstract

Background: Restrictive lung disease (RLD) is a potential complication in type 2 diabetes (T2D), but its relationship with insulin resistance and liver-related metabolic dysfunction remains unclear. This study evaluated the association between lung function and metabolic markers in T2D and retrospectively assessed [...] Read more.

Background: Restrictive lung disease (RLD) is a potential complication in type 2 diabetes (T2D), but its relationship with insulin resistance and liver-related metabolic dysfunction remains unclear. This study evaluated the association between lung function and metabolic markers in T2D and retrospectively assessed whether metabolic improvements from dietary intervention were accompanied by changes in lung function. Methods: This cross-sectional analysis included 184 individuals (101 with T2D, 33 with prediabetes, and 50 glucose-tolerant individuals). Lung function parameters—vital capacity (VC), total lung capacity by plethysmography (TLC-B), and diffusion capacity for carbon monoxide (TL_CO)—were assessed alongside metabolic markers including HOMA2-IR, fatty liver index (FLI), NAFLD score, and Fibrosis-4 index (FIB-4). In a subset of 54 T2D participants, lung function was reassessed after six months following either a fasting-mimicking diet (FMD, n = 14), Mediterranean diet (n = 13), or no dietary intervention (n = 27). Results: T2D participants had significantly lower VC and TLC-B compared to glucose-tolerant and prediabetic individuals, with 18–21% falling below clinical thresholds for RLD. Lung volumes were negatively correlated with HOMA2-IR, FLI, NAFLD score, and FIB-4 across the cohort and within the T2D group. Although the FMD intervention led to significant improvements in HOMA2-IR and FLI, no corresponding changes in lung function were observed over the six-month period. Conclusions: Restrictive lung impairment in T2D is associated with insulin resistance and markers of liver steatosis and fibrosis. While short-term dietary interventions can improve metabolic parameters, their effect on lung function may require a longer duration or additional interventions and targeted follow-up. These findings highlight the relevance of pulmonary assessment in individuals with metabolic dysfunction. Full article

(This article belongs to the Special Issue Diabetes Mellitus: Current Research and Future Perspectives, 2nd Edition)

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J. Pers. Med., Volume 15, Issue 8 (August 2025) – 43 articles

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