Journal of Personalized Medicine

3 pages, 164 KiB

Open AccessReply

Reply to Fluegge, K.; Fluegge, K. Comment on “Frye et al. Air Pollution and Maximum Temperature Are Associated with Neurodevelopmental Regressive Events in Autism Spectrum Disorder. J. Pers. Med. 2022, 12, 1809”

by Richard E. Frye

J. Pers. Med. 2025, 15(8), 382; https://doi.org/10.3390/jpm15080382 - 15 Aug 2025

Abstract

I would like to thank Fluegge and Fluegge for their comments on our study which identified air pollution and maximum temperature as potential environmental factors associated with neurodevelopmental regression (NDR) in children with autism spectrum disorder (ASD) [...] Full article

(This article belongs to the Section Mechanisms of Diseases)

9 pages, 481 KiB

Open AccessComment

Comment on Frye et al. Air Pollution and Maximum Temperature Are Associated with Neurodevelopmental Regressive Events in Autism Spectrum Disorder. J. Pers. Med. 2022, 12, 1809

by Keith Fluegge and Kyle Fluegge

J. Pers. Med. 2025, 15(8), 381; https://doi.org/10.3390/jpm15080381 - 15 Aug 2025

Abstract

Frye et al. [...] Full article

(This article belongs to the Section Mechanisms of Diseases)

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12 pages, 963 KiB

Open AccessArticle

Real-World Evidence on Low-Dose Olanzapine (≤1.25 mg) for Personalized Antipsychotic Dosing

by Danbee Kang, Seongmi Moon, Ji-Hyun Baek and Juhee Cho

J. Pers. Med. 2025, 15(8), 380; https://doi.org/10.3390/jpm15080380 - 15 Aug 2025

Abstract

Background/Objectives: This cohort study aimed to elucidate the real-world treatment course of patients receiving low-dose olanzapine (<2.5 mg), to assess its efficacy, and to examine its metabolic side effects. This study was a cohort study using a clinical registry. Methods: The [...] Read more.

Background/Objectives: This cohort study aimed to elucidate the real-world treatment course of patients receiving low-dose olanzapine (<2.5 mg), to assess its efficacy, and to examine its metabolic side effects. This study was a cohort study using a clinical registry. Methods: The primary efficacy endpoint was effective medication adherence and appropriate dosing. The primary safety endpoint was the incidence of metabolic adverse events, including diabetes mellitus, dyslipidemia, cardiovascular events, and cerebrovascular events. Cox proportional hazards models were used to compare outcomes between groups. Results: A total of 9565 patients were prescribed olanzapine at Samsung Medical Center from 2002 to 2023, and 1629 (17%) were in the low-dose group. The median maintenance period for low-dose olanzapine was 142 days (IQR, 30–551 days), and 95.5% of patients received low-dose olanzapine with either gradual tapering or gradual dose escalation. During follow-up, the risk of diabetes mellitus (HR = 0.32, 95% CI = 0.17–0.62), dyslipidemia (HR = 0.59, 95% CI = 0.42–0.82), cardiovascular disease (HR = 0.88, 95% CI = 0.51–1.49), and cerebrovascular events (HR = 0.75, 95% CI = 0.41–1.36) was lower in the low-dose group than in the regular-dose group. Conclusions: Low doses of olanzapine have clinical benefits in providing appropriate dosing and a reduced incidence of metabolic side effects. These findings support personalized antipsychotic treatment strategies, particularly in populations with heightened metabolic vulnerability, by informing dose selection based on individual risk–benefit profiles. Full article

(This article belongs to the Special Issue Recent Research on Personalized Approaches to Clinical Therapeutics and Medication Safety)

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11 pages, 613 KiB

Open AccessArticle

Audiogram Shape: Does It Have a Significant Prognostic Role in Idiopathic Sudden Sensorineural Hearing Loss Outcome?

by Gabriella Cadoni, Alberta Rizzuti, Michela Sollazzo, Pasqualina Maria Picciotti and Jacopo Galli

J. Pers. Med. 2025, 15(8), 379; https://doi.org/10.3390/jpm15080379 - 15 Aug 2025

Abstract

Background/Objectives: Sudden sensorineural hearing loss (SSNHL) represents a challenging clinical entity with variable prognosis. Audiometric curve configuration has been proposed as a predictor of recovery. This study aimed to evaluate the association between audiogram morphology at onset and hearing outcome in patients with [...] Read more.

Background/Objectives: Sudden sensorineural hearing loss (SSNHL) represents a challenging clinical entity with variable prognosis. Audiometric curve configuration has been proposed as a predictor of recovery. This study aimed to evaluate the association between audiogram morphology at onset and hearing outcome in patients with idiopathic unilateral SSNHL treated with standardized therapy. Methods: We retrospectively analyzed 156 patients with idiopathic SSNHL. Hearing thresholds at key frequencies were measured at baseline and 4 weeks post-treatment. Patients were categorized into upsloping, flat, downsloping, or U-shaped audiogram subgroups. Recovery was classified into four levels. Comparisons were made across subgroups for audiometric and laboratory data using ANOVA and chi-square tests. Results: Baseline PTA values were comparable across audiogram subgroups (p = 0.12). Hearing recovery differed significantly according to audiogram configuration (chi-square, p < 0.001), with upsloping and U-shaped patterns showing the best outcomes. Flat and downsloping curves were associated with poorer recovery, lower HDL, and elevated NLR values. Conclusions: Audiogram configuration is a relevant prognostic marker in SSNHL. Patterns linked to adverse metabolic and inflammatory profiles may benefit from tailored treatment strategies in a personalized medicine framework. Full article

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

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12 pages, 827 KiB

Open AccessArticle

Effect of High Altitude on Small Pulmonary Vein and Artery Volume in the COPDGene Cohort: Towards Better Understanding of Lung Physiology and Pulmonary Disease

by Anastasia K. A. L. Kwee, Esther Pompe, Leticia Gallardo Estrella, Jean-Paul Charbonnier, Stephen M. Humphries, Harm A. W. M. Tiddens, James D. Crapo, Richard Casaburi, Pim A. de Jong, David A. Lynch and Firdaus A. A. Mohamed Hoesein

J. Pers. Med. 2025, 15(8), 377; https://doi.org/10.3390/jpm15080377 - 15 Aug 2025

Abstract

Background: To personalize the care for persons with smoking-related lung disease, a thorough understanding of its etiology is essential. The role of pulmonary vessels remains poorly understood. Living at high altitude provides a natural model to investigate the effects of low oxygen levels [...] Read more.

Background: To personalize the care for persons with smoking-related lung disease, a thorough understanding of its etiology is essential. The role of pulmonary vessels remains poorly understood. Living at high altitude provides a natural model to investigate the effects of low oxygen levels on pulmonary vessels. This study aims to evaluate the relationship between living at high altitudes and small pulmonary vein and artery volumes. We hypothesize that small vein and artery volumes were independently associated with living at high altitude. Methods: We quantified small pulmonary vein and artery dimensions (ᴓ < 1 mm) on computed tomography (CT) down to 0.2 mm in diameter and normalized the dimensions by body surface area. In 8931 current and former smokers participating in the COPDGene study, we used multivariate regression models corrected for clinical and technical confounders. Results: 1262 residents (14.1%) were defined as high-altitude residents (~1600 m, Denver, CO, USA). Compared to lower-altitude residents, the high-altitude residents had a higher age (62.0 ± 9.1 vs. 59.6 ± 9.0 years), more pack-years smoked (46.8 vs. 44.1) and a lower FEV₁% predicted (64.6 ± 32.4% vs. 76.8 ± 25.2%). Both mean small artery volume (4.09 ± 0.89 mL/m² vs. 3.85 ± 0.90 mL/m²) and mean small vein volume (2.96 ± 0.53 mL/m² vs. 2.67 ± 0.53 mL/m²) were higher in high-altitude residents. Multivariate linear regression showed that, in those without COPD, high-altitude residents have a higher small vein volume (0.129 mL/m², p < 0.001) and higher small artery volume (0.170 mL/m², p = 0.001) compared to lower-altitude residents. There was no significant association in residents with COPD. Conclusions: In current and former smokers without COPD, higher small pulmonary vein and artery volumes were associated with living at high altitude, independent of lung disease or technical CT parameters. A potential cause includes vascular remodeling due to an elevated need for blood oxygen transport, which becomes concealed when COPD develops. Full article

(This article belongs to the Section Epidemiology)

15 pages, 1023 KiB

Open AccessArticle

Personalized Diagnosis and Functional Impact of Vestibular Migraine in Women Aged 20–50: Cross-Sectional Analysis from Neurotology Clinic

by Khalid A. Alahmari and Sarah Alshehri

J. Pers. Med. 2025, 15(8), 378; https://doi.org/10.3390/jpm15080378 - 14 Aug 2025

Abstract

Background/Objectives: Vestibular migraine is a frequently underdiagnosed cause of dizziness in adult females, often overlapping clinically with other vestibular and neurological conditions. Despite its recognition in diagnostic criteria, limited data exist on its prevalence and functional impact in women presenting with dizziness [...] Read more.

Background/Objectives: Vestibular migraine is a frequently underdiagnosed cause of dizziness in adult females, often overlapping clinically with other vestibular and neurological conditions. Despite its recognition in diagnostic criteria, limited data exist on its prevalence and functional impact in women presenting with dizziness in clinical settings. This study assesses the frequency and diagnostic rate of vestibular migraine among females aged 20–50 years presenting with dizziness and evaluates its impact on quality of life and work productivity. Methods: A cross-sectional study was conducted, which included 196 female patients reporting dizziness who were evaluated. Vestibular migraine was diagnosed using ICHD-3 criteria. Functional impact was assessed using the Dizziness Handicap Inventory (DHI) and Work Productivity and Activity Impairment (WPAI) questionnaire. Group comparisons and regression analyses were conducted using SPSS version 24. Results: Vestibular migraine was diagnosed in 84 participants, yielding a prevalence rate of 42.86% (95% CI: 36.13–49.86%). Compared to non-migraine participants, those with vestibular migraine had longer dizziness duration (37.62 ± 11.34 vs. 24.58 ± 10.49 min, p = 0.032), higher DHI (58.34 ± 15.62 vs. 32.76 ± 14.83, p < 0.001) and WPAI scores (42.19 ± 13.45 vs. 23.47 ± 12.90, p < 0.001), and more missed workdays. Regression analysis identified vestibular migraine, poor sleep, anxiety/depression, and BMI as significant predictors of work impairment. Conclusions: Vestibular migraine is a prevalent and functionally disabling condition among women with dizziness, underscoring the importance of systematic diagnosis and multidisciplinary management. Full article

(This article belongs to the Special Issue Clinical Diagnosis and Treatment in Otorhinolaryngology)

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15 pages, 1728 KiB

Open AccessReview

MicroRNAs in Liver Cirrhosis: Diagnostic and Therapeutic Perspectives—A Comprehensive Review

by Cristian Ichim, Adrian Boicean, Paula Anderco, Samuel Bogdan Todor, Adrian Hașegan, Sabrina Bîrsan and Victoria Bîrluțiu

J. Pers. Med. 2025, 15(8), 376; https://doi.org/10.3390/jpm15080376 - 14 Aug 2025

Abstract

Liver cirrhosis represents the end-stage of chronic hepatic injury, arising from a diverse range of etiologies including viral hepatitis, alcohol abuse and non-alcoholic fatty liver disease. A key driver of cirrhosis is hepatic fibrogenesis, a multifaceted process involving hepatic stellate cell activation, inflammatory [...] Read more.

Liver cirrhosis represents the end-stage of chronic hepatic injury, arising from a diverse range of etiologies including viral hepatitis, alcohol abuse and non-alcoholic fatty liver disease. A key driver of cirrhosis is hepatic fibrogenesis, a multifaceted process involving hepatic stellate cell activation, inflammatory signaling and extracellular matrix accumulation. MicroRNAs (miRNAs), a class of small non-coding RNAs, have emerged as pivotal regulators in this context, modulating gene expression networks that govern inflammation, fibrosis and hepatocarcinogenesis. This review synthesizes current evidence on the role of miRNAs in liver cirrhosis, emphasizing specific miRNAs such as miR-21, miR-122, miR-125, miR-146 and miR-155. These miRNAs influence pathways involving TGF-β, NF-κB and PI3K/Akt signaling, contributing to either fibrogenic progression or its suppression. The unique expression profiles and stability of miRNAs in biological fluids position them as promising non-invasive biomarkers for cirrhosis diagnosis and monitoring. Moreover, therapeutic modulation of miRNA activity through mimics or inhibitors holds future potential, though delivery and safety challenges remain. Advancing our understanding of miRNA-mediated regulation in cirrhosis could transform current diagnostic and therapeutic strategies, enabling more precise and personalized liver disease management. Full article

(This article belongs to the Section Disease Biomarker)

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13 pages, 581 KiB

Open AccessArticle

Delayed vs. Concomitant Urethrectomy for Non-Metastatic Urothelial Carcinoma of the Urinary Bladder Undergoing Radical Cystectomy: Perioperative and Survival Outcomes from a Single Tertiary Centre in the United Kingdom

by Francesco Del Giudice, Mohamed Gad, Valerio Santarelli, Rajesh Nair, Yasmin Abu-Ghanem, Elsie Mensah, Ben Challacombe, Jonathan Kam, Youssef Ibrahim, Basil Lufti, Amir Khan, Akra Yeasmin, Kathryn Chatterton, Suzanne Amery, Katarina Spurna, Romerr Alao, Syed Ghazi Ali Kirmani, Felice Crocetto, Biagio Barone, Bernardo Rocco, Alessandro Sciarra, Benjamin I. Chung, Ramesh Thurairaja and Muhammad Shamim Khan Show full author list Hide full author list

J. Pers. Med. 2025, 15(8), 375; https://doi.org/10.3390/jpm15080375 - 14 Aug 2025

Abstract

Introduction: The role of urethrectomy at the time of Robotic-Assisted or Open Radical Cystectomy (RARC, ORC) is controversial. Whether urethrectomy should be performed at the time of RARC/ORC or delayed up to a 3–6 month interval is unclear. We performed a retrospective cohort [...] Read more.

Introduction: The role of urethrectomy at the time of Robotic-Assisted or Open Radical Cystectomy (RARC, ORC) is controversial. Whether urethrectomy should be performed at the time of RARC/ORC or delayed up to a 3–6 month interval is unclear. We performed a retrospective cohort analysis of perioperative and survival outcomes in patients with high-risk NMIBCs or non-metastatic MIBCs at our institution who underwent either concomitant or deferred urethrectomy after RC. Materials and Methods: cTis-T1 or cT2-T4, N0-1, M0 BC patients who underwent RARC or ORC from 2009 to 2024 were reviewed. Clinical, demographic, tumour, and patient characteristics and perioperative variables were assessed across concomitant and delayed urethrectomy groups. Multivariate logistic analysis was performed to estimate the impact of significant variables on intraoperative and postoperative outcomes. Univariable Kaplan–Meier and multivariable Cox regression modelling was implemented to explore the relative effect of time of urethrectomy on progression-free survival (PFS), cancer-specific survival (CSS), and overall survival (OS). Results: A total of n = 58 patients (n = 47 delayed vs. n = 11 concomitant) with similar demographic characteristics were included. The concomitant urethrectomy group experienced longer operative time and greater blood loss (379 ± 65 min and 430 ± 101 mL vs. 342 ± 82 min and 422 ± 125 mL, with p = 0.049 and p = 0.028, respectively). Hospital readmission rates were higher in the concomitant urethrectomy group (36.4% vs. 8.5%, p = 0.016; OR: 17.9; 95% CI 1.2–265; p = 0.036). In Cox regression analysis, the timing of urethrectomy had no influence on PFS, CSS, or OS (all p > 0.05). Conclusions: Our study suggests that urethrectomy can be safely deferred unless urothelial disease is clearly present pre- or intraoperatively without compromising survival outcome and with the advantage of reducing surgical morbidity at the time of RC. Full article

(This article belongs to the Special Issue Targeted Surgery and Artificial Intelligence in Personalized Medicine and Robotic Surgery: Current Challenges and Future Prospects)

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15 pages, 591 KiB

Open AccessArticle

Patient Perceptions of Embryo Visualisation and Ultrasound-Guided Embryo Transfer During IVF: A Descriptive Observational Study

by Giorgio Maria Baldini, Dario Lot, Antonio Malvasi, Antonio Simone Laganà, Angelo Alessandro Marino, Domenico Baldini and Giuseppe Trojano

J. Pers. Med. 2025, 15(8), 374; https://doi.org/10.3390/jpm15080374 - 13 Aug 2025

Abstract

Objective: To evaluate patient perceptions regarding ultrasound-guided embryo transfer, visualisation of embryos prior to transfer, and continuity of care with the same physician during in vitro fertilisation (IVF) treatments. Setting: Between January and September 2023, this study was conducted at the IVF MOMO’ [...] Read more.

Objective: To evaluate patient perceptions regarding ultrasound-guided embryo transfer, visualisation of embryos prior to transfer, and continuity of care with the same physician during in vitro fertilisation (IVF) treatments. Setting: Between January and September 2023, this study was conducted at the IVF MOMO’ FertiLIFE centre in Bisceglie, Italy. Design: Descriptive and observational study based on an anonymous survey administered to IVF patients at the time of embryo transfer. The goal was to assess the subjective emotional and psychological response to selected procedural elements of the embryo transfer process. Participants: Out of 284 distributed questionnaires, 200 were included in the final analysis. Inclusion required fully completed responses. Questionnaires with incomplete, unclear answers or patient refusal were excluded. The study group was compared with the general IVF patient population treated at the centre over the past 5 years to ensure representativeness. Methods: Patients completed a structured questionnaire using a five-point Likert scale. Statistical analysis included descriptive statistics, Spearman’s rank correlation, Friedman test, and exploratory factor analysis. Ethical approval was obtained (CELFer no. 07/2021), and all participants provided written informed consent. Results: The majority of patients reported a heightened sense of calm and reassurance during ultrasound-guided embryo transfer. Viewing embryos on a monitor before transfer was also positively perceived. A strong preference emerged for continuity of care with the same physician throughout the IVF process. While this study did not assess objective stress levels or clinical outcomes, the findings highlight the psychological comfort associated with these patient-centred practices. Limitations: This single-centre study is based on self-reported data and lacks objective assessments of psychological well-being. Therefore, results reflect personal perceptions rather than measurable clinical outcomes. Broader, multicentre research using validated psychological tools is needed to confirm and expand these findings. Furthermore, the questionnaire used in this study was developed internally and not validated externally with standardised psychometric instruments. Conclusions: This study provides insight into IVF patients’ subjective experiences, emphasising the perceived emotional benefits of specific procedural and relational aspects of care. These findings support the integration of patient-centred strategies—such as visual engagement and physician continuity—into routine IVF practice to enhance overall patient well-being. Full article

(This article belongs to the Section Epidemiology)

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12 pages, 7710 KiB

Open AccessArticle

Efficacy and Safety of Personalized Percutaneous Single-Probe Cryoablation Using Liquid Nitrogen in the Treatment of Abdominal Wall Endometriosis

by Ghizlane Touimi Benjelloun, Malek Mokbli, Tarek Kammoun, Sinda Ghabri, Skander Sammoud, Wissem Nabi, Vincent Letouzey, Jean-Paul Beregi and Julien Frandon

J. Pers. Med. 2025, 15(8), 373; https://doi.org/10.3390/jpm15080373 - 13 Aug 2025

Abstract

Background: Abdominal wall endometriosis (AWE) is a rare but debilitating condition, often occurring in surgical scars after Caesarean sections. It is characterized by cyclic pain and a palpable mass, significantly impacting patients’ quality of life. Traditional treatments, including hormonal therapy and surgery, [...] Read more.

Background: Abdominal wall endometriosis (AWE) is a rare but debilitating condition, often occurring in surgical scars after Caesarean sections. It is characterized by cyclic pain and a palpable mass, significantly impacting patients’ quality of life. Traditional treatments, including hormonal therapy and surgery, have limitations, prompting interest in minimally invasive techniques such as cryoablation. This study evaluates the efficacy and safety of percutaneous image-guided single-probe cryoablation using liquid nitrogen for symptomatic AWE. Purpose: To evaluate the effectiveness and safety of percutaneous image-guided single-probe cryoablation using liquid nitrogen in treating symptomatic AWE lesions, with a primary objective to assess pain relief using the Visual Analog Scale (VAS). Materials and Methods: This retrospective, single-center study included 14 patients (23 lesions) treated with percutaneous cryoablation between September 2022 and April 2025. Clinical, imaging (MRI and ultrasound), and procedural data were analyzed. Pain scores (VAS scale) were assessed before treatment and at 3-month follow-up. Hydro- and/or carbo-dissection were used to protect adjacent structures. Response to treatment was evaluated with MRI and clinical follow-up. Statistical analysis was performed using median, range, and percentage calculations, with comparisons made using the Mann–Whitney test. Results: A total of 23 AWE lesions were treated in 14 patients (mean age: 39.6 years). The median lesion volume was 3546 mm³, with a range from 331 mm³ (8 × 4.6 × 9 mm) to 45,448 mm³ (46 × 26 × 38 mm). Most of the lesions were located in the muscle (69.6%, n = 16), while 17.4% (n = 4) involved both muscle and subcutaneous tissue, and 13.0% (n = 3) were purely subcutaneous. Among the 23 treated lesions, 8.7% (n = 2) appeared as purely hemorrhagic, 13.0% (n = 3) as fibrotic, and 78.3% (n = 18) were classified as mixed, based on imaging characteristics. Procedures were performed under general anesthesia in 65% of cases and under sedation in 35%. Hydrodissection was used in 48% of lesions, carbo-dissection in 4%, and combined hydro–carbo-dissection in 26%. A single 13G cryoprobe was used in 83% of cases, and a 10G probe in 17%. The median ablation time was 15 min (range: 6–28 min), and the median total procedure time was 93 min (range: 22–240 min). Pain scores significantly decreased from a median of 8/10 (range: 6–10) before treatment to 0/10 (range: 0–2) at follow-up (p < 0.0001). MRI follow-up confirmed complete coverage of the ablation zone and disappearance of hemorrhagic inclusions in all cases. Two patients (14%) required re-treatment, both with satisfactory outcomes. No peri- or post-procedural complications were observed, and no visible scars were noted. Conclusions: Percutaneous cryoablation using a single probe with liquid nitrogen is a safe and effective treatment for AWE, offering significant pain relief, minimal morbidity, and excellent cosmetic outcomes. It should be considered as part of multidisciplinary care. Further prospective studies with longer follow-up are warranted to confirm these findings. Full article

(This article belongs to the Special Issue Interventional Radiology: Towards Personalized Medicine)

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26 pages, 2071 KiB

Open AccessReview

Functional Mitral Regurgitation in the Transcatheter Era: Diagnostic and Therapeutic Pathways

by Francesca Maria Di Muro, Luigi Spadafora, Angela Buonpane, Francesco Leuzzi, Giulia Nardi, Eduardo Bossone, Giuseppe Biondi Zoccai, Tiziana Attisano, Francesco Meucci, Carlo Di Mario, Carmine Vecchione and Gennaro Galasso

J. Pers. Med. 2025, 15(8), 372; https://doi.org/10.3390/jpm15080372 - 13 Aug 2025

Abstract

Functional mitral regurgitation (FMR) is a common condition with significant prognostic implications, primarily driven by left atrial or ventricular remodeling secondary to ischemic or non-ischemic cardiomyopathies. While guideline-directed medical therapy (GDMT) remains the cornerstone of management, reducing mitral regurgitation severity in up to [...] Read more.

Functional mitral regurgitation (FMR) is a common condition with significant prognostic implications, primarily driven by left atrial or ventricular remodeling secondary to ischemic or non-ischemic cardiomyopathies. While guideline-directed medical therapy (GDMT) remains the cornerstone of management, reducing mitral regurgitation severity in up to 40–45% of cases, additional interventions are often necessary. In patients where atrial fibrillation (AF) or ventricular dyssynchrony due to abnormal electrical conduction contributes to disease progression, guideline-directed AF management or cardiac resynchronization therapy plays a pivotal role. For those with persistent moderate to severe MR and unresolved symptoms despite optimal GDMT, percutaneous intervention may be warranted, provided specific clinical and echocardiographic criteria are met. This review highlights a precision-medicine approach to patient selection for transcatheter treatment of functional mitral regurgitation (FMR), emphasizing the integration of clinical characteristics with advanced multimodal imaging, including echocardiography, cardiac magnetic resonance, and computed tomography. In anatomically or clinically complex cases, complementary use of these imaging modalities is essential to ensure accurate phenotyping and procedural planning. Once a suitable candidate for percutaneous intervention has been identified, we provide a detailed overview of current transcatheter strategies, with a focus on device selection tailored to anatomical and pathophysiological features. Finally, we discuss emerging technologies and evolving therapeutic paradigms that are shaping the future of individualized FMR management. Full article

(This article belongs to the Special Issue Updates on Heart Valve Diseases: Personalized Treatment and Management)

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10 pages, 482 KiB

Open AccessArticle

Prognostication Following Transcatheter Edge-to-Edge Mitral Valve Repair Using Combined Echocardiography-Derived Velocity Time Integral Ratio and Artificial Intelligence Applied to Electrocardiogram

by Nadera N. Bismee, Isabel G. Scalia, Mohammed Tiseer Abbas, Juan M. Farina, Milagros Pereyra Pietri, Kamal Awad, Nima Baba Ali, Niloofar Javadi, Sogol Attaripour Esfahani, Hesham Sheashaa, Omar H. Ibrahim, Fatmaelzahraa E. Abdelfattah, F. David Fortuin, Steven J. Lester, John P. Sweeney, Chadi Ayoub and Reza Arsanjani

J. Pers. Med. 2025, 15(8), 371; https://doi.org/10.3390/jpm15080371 - 13 Aug 2025

Abstract

Introduction: Mitral valve transcatheter edge-to-edge repair (M-TEER) has emerged as a minimally invasive option for high-risk surgical candidates with severe and symptomatic mitral regurgitation (MR), but post-procedure residual mitral valve (MV) dysfunction remains a significant concern. This study evaluates the clinical utility [...] Read more.

Introduction: Mitral valve transcatheter edge-to-edge repair (M-TEER) has emerged as a minimally invasive option for high-risk surgical candidates with severe and symptomatic mitral regurgitation (MR), but post-procedure residual mitral valve (MV) dysfunction remains a significant concern. This study evaluates the clinical utility of combining artificial intelligence applied to electrocardiograms (ECG-AI) for diastolic dysfunction (DD) grading and the echocardiography-derived velocity time integral of the MV and left ventricular outflow tract ratio (VTI_MV/_LVOT) in predicting prognosis in patients post-M-TEER. Methods: A retrospective analysis of patients who underwent M-TEER between 2014 and 2021 was conducted. Patients were categorized based on VTI_MV/LVOT and ECG-AI scores into three groups: both normal parameters, either abnormal parameter, or both abnormal parameters to compare outcomes (mortality, major adverse cardiovascular events [MACE], and the need for subsequent MV reintervention) using Kaplan–Meier analysis, multivariable Cox regression models, and net reclassification improvement. Results: Overall, 250 patients were included; the median age was 79.5 (IQR: 73.1, 84.6) and 66.4% were male. The combined abnormal VTI_MV/LVOT (≥2.5) and ECG-AI score for DD (>1) was associated with higher risk of one-year mortality (adjusted HR: 4.56 [1.04–19.89], p = 0.044) and MACE (adjusted HR: 3.72 [1.09–12.72], p = 0.037) compared to patients with both normal parameters. Conclusions: This study highlights the potential additive value of integrating VTI_MV/LVOT and ECG-AI scores as a prognostic tool for a personalized approach to the post-operative evaluation and risk stratification in M-TEER patients. Full article

(This article belongs to the Special Issue The Development of Echocardiography in Heart Disease)

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24 pages, 2270 KiB

Open AccessReview

Established and Emerging Asthma Biomarkers with a Focus on Biologic Trials: A Narrative Review

by Philip F. Lavere, Kaitlin M. Phillips, Nicola A. Hanania and Muhammad Adrish

J. Pers. Med. 2025, 15(8), 370; https://doi.org/10.3390/jpm15080370 - 13 Aug 2025

Abstract

Chronic airway inflammation with variable airflow obstruction is clinical asthma, and it arises from distinct molecular and pathological mechanisms called endotypes. Biomarkers allow for precise endotype characterization and have been used in clinical trials to design, monitor, and evaluate outcomes for asthma biologic [...] Read more.

Chronic airway inflammation with variable airflow obstruction is clinical asthma, and it arises from distinct molecular and pathological mechanisms called endotypes. Biomarkers allow for precise endotype characterization and have been used in clinical trials to design, monitor, and evaluate outcomes for asthma biologic therapies. This review will highlight the central and evolving role of biomarkers for past, present, and future asthma, with a focus on regulatory-approved biologic therapies and emerging biomarkers. Established biomarkers, including serum immunoglobulin E (IgE), blood eosinophils, the fraction of exhaled nitric oxide (FeNO), and serum periostin, helped elucidate the complex pathophysiology of the eosinophilic type 2 (T2) asthma endotype. Emerging biomarkers, or older biomarkers with emerging utility, include sputum inflammatory cells (eosinophils, neutrophils, interleukins), thymus and activation-regulated chemokine (TARC), plasma eotaxin-3, eosinophil peroxidase (EPX), Clara/club cell secretory protein (CC16), and quantitative computerized tomography (QCT) imaging biomarkers (evaluating mucus plugging, air trapping, airway wall thickness, small airway remolding) and are increasingly used in clinical trials as secondary endpoints in evaluating efficacy, as well as in the clinical setting at specialized centers. The rapid advances in asthma research, due in part to biomarkers and biologic therapies, may soon standardize an end goal: symptom-free asthma remission without exacerbations. Full article

(This article belongs to the Special Issue Novel Therapeutic Approaches to Asthma in Clinical Medicine)

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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

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

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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