Journal of Personalized Medicine

27 pages, 2080 KB

Open AccessReview

Patient-Derived Organoid Biobanks for Translational Research and Precision Medicine: Challenges and Future Perspectives

by Floriana Jessica Di Paola, Giulia Calafato, Pier Paolo Piccaluga, Giovanni Tallini and Kerry Jane Rhoden

J. Pers. Med. 2025, 15(8), 394; https://doi.org/10.3390/jpm15080394 - 21 Aug 2025

Viewed by 536

Abstract

Over the past decade, patient-derived organoids (PDOs) have emerged as powerful in vitro models that closely recapitulate the histological, genetic, and functional features of their parental primary tissues, representing a ground-breaking tool for cancer research and precision medicine. This advancement has led to [...] Read more.

Over the past decade, patient-derived organoids (PDOs) have emerged as powerful in vitro models that closely recapitulate the histological, genetic, and functional features of their parental primary tissues, representing a ground-breaking tool for cancer research and precision medicine. This advancement has led to the development of living PDO biobanks, collections of organoids derived from a wide range of tumor types and patient populations, which serve as essential platforms for drug screening, biomarker discovery, and functional genomics. The classification and global distribution of these biobanks reflect a growing international effort to standardize protocols and broaden accessibility, supporting both basic and translational research. While their relevance to personalized medicine is increasingly recognized, the establishment and maintenance of PDO biobanks remain technically demanding, particularly in terms of optimizing long-term culture conditions, preserving sample viability, and mimicking the tumor microenvironment. In this context, this review provides an overview of the classification and worldwide distribution of tumor and paired healthy tissue-specific PDO biobanks, explores their translational applications, highlights recent advances in culture systems and media formulations, and discusses current challenges and future perspectives for their integration into clinical practice. Full article

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

► Show Figures

Graphical abstract

10 pages, 1881 KB

Open AccessReview

Geometric Aortic Remodeling and Stent-Graft Migration After TEVAR: Insights from Longitudinal 3D Analysis and Literature Review

by Mariangela De Masi, Carine Guivier-Curien, Marine Gaudry, Alexis Jacquier, Philippe Piquet and Valérie Deplano

J. Pers. Med. 2025, 15(8), 393; https://doi.org/10.3390/jpm15080393 - 21 Aug 2025

Viewed by 246

Abstract

Background: Long-term follow-up after endovascular aortic repair (TEVAR) is crucial to detect adverse aortic remodeling, even with modern stent grafts offering enhanced flexibility and durability. Conventional imaging, based on diameter measurements, may fail to identify complications such as endograft migration. Methods: [...] Read more.

Background: Long-term follow-up after endovascular aortic repair (TEVAR) is crucial to detect adverse aortic remodeling, even with modern stent grafts offering enhanced flexibility and durability. Conventional imaging, based on diameter measurements, may fail to identify complications such as endograft migration. Methods: We conducted a longitudinal 3D geometric analysis of thoracic aortic and stent-graft evolution over 10 years in a patient treated for descending thoracic aortic aneurysm (DTAA) by endovascular treatment. A three-dimensional morphological analysis (length, tortuosity, angulation, and diameter) was carried out using advanced imaging software (EndoSize, MATLAB) to track aortic geometry and stent-graft behavior over time. A focused review of the literature on stent-graft migration, its risk factors, complications, and surveillance strategies was also performed. Results: This case illustrates how progressive geometric remodeling—including aortic elongation and increased tortuosity—can lead to delayed stent-graft migration and late type III endoleaks, with an elevated risk of rupture. The 3D analysis revealed early morphological changes that were undetectable using standard diameter-based follow-up. These observations are consistent with published data showing higher migration rates over time, particularly in tortuous anatomies. The literature review further emphasizes the clinical relevance of geometric surveillance, given the high rates of reintervention, morbidity, and mortality associated with stent-graft migration. Conclusions: This study underlines the importance of personalized and geometry-based surveillance after TEVAR. Advanced morphological assessment tools provide valuable insights for the early detection of complications and tailored patient management. Their integration into routine follow-up could help optimize long-term outcomes and prevent life-threatening events such as rupture. Full article

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

► Show Figures

Figure 1

10 pages, 1480 KB

Open AccessArticle

Comparison Between the Human-Sourced Ellipsoid Method and Kidney Volumetry Using Artificial Intelligence in Polycystic Kidney Disease

by Jihyun Yang, Young Rae Lee, Young Youl Hyun, Hyun Jung Kim, Tae Young Shin and Kyu-Beck Lee

J. Pers. Med. 2025, 15(8), 392; https://doi.org/10.3390/jpm15080392 - 20 Aug 2025

Viewed by 334

Abstract

Background: The Mayo imaging classification (MIC) for polycystic kidney disease (PKD) is a crucial basis for clinical treatment decisions; however, the volumetric assessment for its evaluation remains tedious and inaccurate. While the ellipsoid method for measuring the total kidney volume (TKV) in patients [...] Read more.

Background: The Mayo imaging classification (MIC) for polycystic kidney disease (PKD) is a crucial basis for clinical treatment decisions; however, the volumetric assessment for its evaluation remains tedious and inaccurate. While the ellipsoid method for measuring the total kidney volume (TKV) in patients with PKD provides a practical TKV estimation using computed tomography (CT), its inconsistency and inaccuracy are limitations, highlighting the need for improved, accessible techniques in real-world clinics. Methods: We compared manual ellipsoid and artificial intelligence (AI)-based kidney volumetry methods using a convolutional neural network-based segmentation model (3D Dynamic U-Net) for measuring the TKV by assessing 32 patients with PKD in a single tertiary hospital. Results: The median age and average TKV were 56 years and 1200.24 mL, respectively. Most of the patients were allocated to Mayo Clinic classifications 1B and 1C using the ellipsoid method, similar to the AI volumetry classification. AI volumetry outperformed the ellipsoid method with highly correlated scores (AI vs. nephrology professor ICC: r = 0.991, 95% confidence interval (CI) = 0.9780–0.9948, p < 0.01; AI vs. trained clinician ICC: r = 0.983, 95% CI = 0.9608–0.9907, p < 0.01). The Bland–Altman plot also showed that the mean differences between professor and AI volumetry were statistically insignificant (mean difference 159.5 mL, 95% CI = 11.8368–330.7817, p = 0.07). Conclusions: AI-based kidney volumetry demonstrates strong agreement with expert manual measurements and offers a reliable, labor-efficient alternative for TKV assessment in clinical practice. It is helpful and essential for managing PKD and optimizing therapeutic outcomes. Full article

(This article belongs to the Topic Diagnosis, Management, and Prognostic Assessment of Chronic Disease)

► Show Figures

Figure 1

9 pages, 299 KB

Open AccessArticle

Five-Year Survival After Transcatheter Versus Surgical Aortic Valve Replacement in Patients with Severe Aortic Valve Stenosis—Do We Choose the Right Treatment for Each Patient? A Propensity Score Matched Analysis

by George Samanidis, Antonios Roussakis, Sotirios Katsaridis, Efthymia Liaretidou, Eirini Kefalidi, Areti Falara, Ilias Georgios Koziakas, Ioannis Nenekidis, Ilias Kosmas, Evangelos Leontiadis, Vassilios Voudris, Ioannis Iakovou and Konstantinos Perreas

J. Pers. Med. 2025, 15(8), 391; https://doi.org/10.3390/jpm15080391 - 20 Aug 2025

Viewed by 381

Abstract

Background and Objectives: The treatment of choice for aortic valve stenosis in patients with low and intermediate risk is still debated. In this study, we compared the outcomes of low-to-intermediate surgical risk patients who underwent surgical versus transcatheter aortic valve replacement for severe [...] Read more.

Background and Objectives: The treatment of choice for aortic valve stenosis in patients with low and intermediate risk is still debated. In this study, we compared the outcomes of low-to-intermediate surgical risk patients who underwent surgical versus transcatheter aortic valve replacement for severe aortic valve stenosis (AS). Methods: Between 2015 and 2019, 326 consecutive patients with severe AS underwent transcatheter aortic valve implantation (TAVI), while 341 patients underwent surgical aortic valve replacement (SAVR). The two populations were propensity score matched by age, gender and Euroscore II. The survival rate of patients during median 5-year follow-up between SAVR and TAVI patients was evaluated. Results: After propensity score matching, 94 pairs of patients were compared and the mean standard deviation age of patients, sex (female) and Euroscore II were 77.5 (6.6) versus 76.6 (6.5) years, 51.1% versus 51.1% and 3.3 (1.88)% versus 3.0 (1,84)%, respectively. Permanent pacemaker implantation was higher in transcatheter group (21.3% versus 1.1%, p < 0.001). No difference in length of ICU and in-hospital stay was observed, p = 0.08 and p = 0.12, respectively. During follow-up the presence of more than moderate insufficiency of the prosthetic valve postoperatively was significantly less frequent in the surgical versus transcatheter (0% versus 14.3%). Survival rates over 1, 3 and 5 years did not differ in surgical versus transcatheter group (93.6%, 81.9% and 62.8% versus 86.2%, 69.1% and 59.6%, respectively (p = 0.16)). Conclusions: Short- and long-term survival rates were similar in patients who underwent transcatheter versus surgical aortic valve replacement, whereas SAVR showed superior results concerning the postoperative detection of residual regurgitation and need for PPM. It is extremely important to personalize the choice of treatment according to patients’ age, clinical status and life expectancy. Full article

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

► Show Figures

Figure 1

15 pages, 284 KB

Open AccessReview

Lost in .*VCF Translation. From Data Fragmentation to Precision Genomics: Technical, Ethical, and Interpretive Challenges in the Post-Sequencing Era

by Massimiliano Chetta, Marina Tarsitano, Nenad Bukvic, Laura Fontana and Monica Rosa Miozzo

J. Pers. Med. 2025, 15(8), 390; https://doi.org/10.3390/jpm15080390 - 20 Aug 2025

Viewed by 339

Abstract

Background: The genomic era has transformed not only the tools of medicine but the very logic by which we understand health and disease. Whole Exome Sequencing (WES), Clinical Exome Sequencing (CES), and Whole Genome Sequencing (WGS) have catalyzed a shift from Mendelian simplicity [...] Read more.

Background: The genomic era has transformed not only the tools of medicine but the very logic by which we understand health and disease. Whole Exome Sequencing (WES), Clinical Exome Sequencing (CES), and Whole Genome Sequencing (WGS) have catalyzed a shift from Mendelian simplicity to polygenic complexity, from genetic determinism to probabilistic interpretation. This epistemological evolution calls into question long-standing notions of causality, certainty, and identity in clinical genomics. Yet, as the promise of precision medicine grows, so too do the tensions it generates: fragmented data, interpretative opacity, and the ethical puzzles of Variants of Uncertain Significance (VUSs) and unsolicited secondary findings. Results: Despite technological refinement, the diagnostic yield of Next-Generation Sequencing (NGS) remains inconsistent, hindered by the inherent intricacy of gene–environment interactions and constrained by rigid classificatory systems like OMIM and HPO. VUSs (neither definitively benign nor pathogenic) occupy a liminal space that resists closure, burdening both patients and clinicians with uncertainty. Meanwhile, secondary findings, though potentially life-altering, challenge the boundaries of consent, privacy, and responsibility. In both adult and pediatric contexts, genomic knowledge reshapes notions of autonomy, risk, and even personhood. Conclusions: Genomic medicine has to develop into a flexible, morally sensitive paradigm that neither celebrates certainty nor ignores ambiguity. Open infrastructures, dynamic variant reclassification, and a renewed focus on interdisciplinary and humanistic approaches are essential. Only by embracing the uncertainty intrinsic to our biology can precision medicine fulfill its promise, not as a deterministic science, but as a nuanced dialogue between genes, environments, and lived experience. Full article

(This article belongs to the Section Personalized Critical Care)

17 pages, 308 KB

Open AccessReview

What Are the Game Changers in Total Knee Arthroplasty? A Narrative Review

by Andrea Baldini, Damiano Ardiri, Lorenzo Benvenuti, Mattia Chirico, Enrico Fiorilli, Alessandro Singlitico and Filippo Leggieri

J. Pers. Med. 2025, 15(8), 389; https://doi.org/10.3390/jpm15080389 - 20 Aug 2025

Viewed by 427

Abstract

Background: Total knee arthroplasty (TKA) has evolved significantly, yet achieving consistently optimal outcomes remains challenging across diverse patient populations. This comprehensive narrative review identifies evidence-based “game changers” that genuinely transform TKA success while distinguishing them from interventions lacking clinical superiority. The analysis [...] Read more.

Background: Total knee arthroplasty (TKA) has evolved significantly, yet achieving consistently optimal outcomes remains challenging across diverse patient populations. This comprehensive narrative review identifies evidence-based “game changers” that genuinely transform TKA success while distinguishing them from interventions lacking clinical superiority. The analysis organizes findings across three perioperative phases: preoperative optimization, intraoperative techniques, and postoperative management. Preoperative game changers include end-stage bone-on-bone osteoarthritis, preoperative medical optimization of patients performed by dedicated practitioners, cryocompression therapy, and perioperative dexamethasone administration. Intraoperative interventions demonstrating substantial impact encompass reduced surgical time and optimized surgical instrumentation, personalized alignment, medial congruent bearings, cementless implants for high-demanding and high-BMI patients, and perioperative tranexamic acid. Postoperative game changers include early mobilization following surgery, venous thrombo-embolic prophylaxis avoiding high-bleeding-risk pharmaceuticals, and multimodal pain management. The review also identifies those initial promises without established clinical advantages, or “fake game changers”, that consume resources without meaningful benefits. This evidence synthesis demonstrates that TKA optimization requires systematic implementation of validated interventions rather than pursuing technological innovations indiscriminately. The future of TKA lies in evidence-based adoption of proven strategies that translate to genuine patient outcome improvements rather than merely increasing procedural complexity. Full article

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

10 pages, 520 KB

Open AccessArticle

From Screening to Therapy: A Personalized Approach to ROP in a National NICU Setting

by Stylianos Christodoulou, Fedonas Herodotou, Annalisa Quattrocchi, Theodoros Potamitis and Vivi Choleva

J. Pers. Med. 2025, 15(8), 388; https://doi.org/10.3390/jpm15080388 - 19 Aug 2025

Viewed by 260

Abstract

Aim: We aimed to investigate the incidence, treatment patterns, and associated risk factors of type 1 retinopathy of prematurity (ROP) in the only tertiary-level Neonatal Intensive Care Unit (NICU) in Cyprus. Methods: This retrospective study included all infants screened for ROP [...] Read more.

Aim: We aimed to investigate the incidence, treatment patterns, and associated risk factors of type 1 retinopathy of prematurity (ROP) in the only tertiary-level Neonatal Intensive Care Unit (NICU) in Cyprus. Methods: This retrospective study included all infants screened for ROP between January and December 2023. Data were collected from standardized NICU discharge summaries and included gestational age (GA), birth weight (BW), multiple birth, systemic infection, blood transfusion, oxygen therapy, surgical interventions, and ROP outcomes. Infants were categorized into non-ROP, non-type 1 ROP, and type 1 ROP groups. Statistical analysis was performed to identify differences in risk factor distribution. Results: Among 183 infants, 33 (18.0%) developed ROP, with 11 (6.0%) requiring treatment for type 1 ROP. All infants with type 1 ROP were born at ≤28 weeks GA and weighed <1501 g. Type 1 ROP was significantly associated with lower GA, lower BW, systemic infection, surgery, and prolonged oxygen support (p < 0.05). Six infants were treated with laser and three with intravitreal bevacizumab. No recurrence was observed in the anti-VEGF group during 18 months of follow-up. Two infants with aggressive ROP died before treatment. Conclusions: Type 1 ROP in Cyprus occurred exclusively in extremely preterm infants, associated with the cumulative effect of multiple risk factors. Laser remained the primary treatment, while anti-VEGF was used selectively with favorable outcomes. This study emphasizes the importance of tailoring ROP screening and treatment strategies based on individual neonatal risk profiles, supporting a personalized approach to neonatal ophthalmic care. Full article

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

► Show Figures

Figure 1

14 pages, 942 KB

Open AccessArticle

A Precision Surgery Framework for Lung Resection: Robotic, Video-Assisted, and Open Segmentectomy

by Chiara Catelli, Miriana D’Alessandro, Federico Mathieu, Roberto Corzani, Marco Ghisalberti, Andrea Lloret Madrid, Susanna Guerrini, Piero Paladini and Luca Luzzi

J. Pers. Med. 2025, 15(8), 387; https://doi.org/10.3390/jpm15080387 - 19 Aug 2025

Viewed by 400

Abstract

Objectives: To evaluate outcomes of patients undergoing lung segmentectomy using open thoracotomy, Video-Assisted Thoracoscopic Surgery (VATS), or Robotic-Assisted Thoracoscopic Surgery (RATS) approaches. Methods: A total of 157 patients (mean age: 68.7 years; 58% male) who underwent lung segmentectomy from 2015 to 2024 at [...] Read more.

Objectives: To evaluate outcomes of patients undergoing lung segmentectomy using open thoracotomy, Video-Assisted Thoracoscopic Surgery (VATS), or Robotic-Assisted Thoracoscopic Surgery (RATS) approaches. Methods: A total of 157 patients (mean age: 68.7 years; 58% male) who underwent lung segmentectomy from 2015 to 2024 at the Thoracic Surgery of Siena were retrospectively enrolled and divided into groups based on the surgical approach: thoracotomy (n = 60), VATS (n = 58), and RATS (n = 39). No significant differences were observed between groups in terms of age, gender, or tumor stage. Peri-operative outcomes, and, in patients with non-small cell lung cancer (NSCLC, n = 104), long-term outcomes, were analyzed. Group comparisons were conducted using Kruskal–Wallis, Dunn’s test, Chi-squared, or Fisher’s exact test and Kaplan–Meier analysis with log-rank test. Results: Conversion rate was 13% and 0% for VATS and RATS, respectively (p = 0.005). Pleural effusion on first post-operative day was lower in RATS than VATS (p = 0.0006) and open (p < 0.0001). The maximum Visual Analogue Scale (VAS) value recorded was lower in RATS than open (p = 0.016) and VATS (p = 0.013). Surgery time was longer for RATS than open (p = 0.001) and VATS (p = 0.013). No differences were found in hospital stay and post-operative complications. In patients with NSCLC, the median follow-up was 25 months. The 90-day mortality rate was 9.5% in thoracotomy, 0% in VATS and RATS (p = 0.05). The 1- and 2-year overall survival was higher in VATS and RATS groups than thoracotomy (p = 0.001 and p = 0.040, respectively). The number of harvested lymph nodes was larger in the open group (p = 0.010), while a higher number of stations were harvested in RATS and open than VATS (p = 0.001). No differences were found in local recurrence (p= 0.08). Conclusions: RATS segmentectomy ensures a lower conversion rate, less post-operative pain, reduced daily pleural effusion, and a greater number of harvested lymph node stations compared to VATS, providing comparable peri-operative outcomes. RATS and VATS segmentectomy offer an advantage over the open approach in short- and long-term survival. Full article

(This article belongs to the Special Issue Precision Medicine in Thoracic Oncology: Targeted Therapies and Personalized Treatment Strategies)

► Show Figures

Figure 1

16 pages, 277 KB

Open AccessArticle

Genetic Modulation of Silodosin Exposure and Efficacy: The Role of CYP3A4, CYP3A5, and UGT2B7 Polymorphisms in Benign Prostatic Hyperplasia Management

by Shokhrukh P. Abdullaev, Maksim N. Shatokhin, Pavel O. Bochkov, Svetlana N. Tuchkova, Oleg B. Loran, Sherzod P. Abdullaev, Karin B. Mirzaev and Dmitry A. Sychev

J. Pers. Med. 2025, 15(8), 386; https://doi.org/10.3390/jpm15080386 - 18 Aug 2025

Viewed by 272

Abstract

Objectives: Silodosin, a selective α1A-adrenoceptor antagonist, is used to treat lower urinary tract symptoms (LUTS) associated with benign prostatic hyperplasia (BPH). Genetic polymorphisms in drug-metabolizing enzymes and transporters may contribute to interindividual variability in its efficacy and safety. This study aimed to [...] Read more.

Objectives: Silodosin, a selective α1A-adrenoceptor antagonist, is used to treat lower urinary tract symptoms (LUTS) associated with benign prostatic hyperplasia (BPH). Genetic polymorphisms in drug-metabolizing enzymes and transporters may contribute to interindividual variability in its efficacy and safety. This study aimed to investigate the influence of CYP3A4, CYP3A5, UGT2B7, and ABCB1 polymorphisms on silodosin pharmacokinetics, efficacy, and safety in Russian patients with BPH. Methods: A prospective observational study included 103 Russian male patients with moderate-to-severe LUTS (IPSS > 8) due to BPH, treated with silodosin (8 mg daily) for 8 weeks. Genotyping for CYP3A4*1B, CYP3A4*22, CYP3A5*3, UGT2B7 (rs73823859, rs7439366, and rs7668282), and ABCB1 (rs4148738, rs1045642, rs2032582, and rs1128503) was performed using real-time PCR. The silodosin minimum steady-state plasma concentration (Css min) was measured via HPLC-MS. Efficacy was evaluated by the International Prostate Symptom Score (IPSS), quality of life scale, maximum urinary flow rate (Qmax), residual urine volume (RUV), and prostate volume at the baseline and week 8. Adverse drug reactions (ADRs) were recorded. Results: CYP3A4*22 CT carriers (n = 6) exhibited higher Css min (17.59 ± 2.98 vs. 9.0 ± 10.47 ng/mL, p = 0.049) but less absolute IPSS improvement (p < 0.05), likely due to higher baseline symptom severity. However, the change in IPSS (ΔIPSS_1–4) from the baseline to week 8 did not differ significantly (−5.78 ± 5.29 vs. −6.0 ± 4.54, p = 0.939). CYP3A5*3 GG homozygotes (n = 96) showed greater ΔIPSS_1–4 improvement (−6.25 ± 4.60 vs. 0.0 ± 9.53, p = 0.042) and a lower IPSS at day 28 (7.64 ± 4.50 vs. 20.0 ± 6.55, p < 0.001). UGT2B7 rs7439366 TT carriers (n = 34) had an improved Qmax (ΔQmax_1–4 5.4 vs. 3.3 and 2.0 mL/s for CC and CT, p = 0.041). ABCB1 1236C>T TT homozygotes (n = 25) showed a trend toward reduced RUV (p = 0.053). No polymorphisms were associated with adverse drug reactions (15 events in 42 patients, 35.7%). Conclusions: Genetic polymorphisms CYP3A4*22, CYP3A5*3, and UGT2B7 rs7439366 may modulate silodosin pharmacokinetics and efficacy parameters in BPH patients but not safety. Larger-scale studies are warranted to validate these initial findings. Full article

(This article belongs to the Special Issue New Approaches in Pharmacogenomics)

58 pages, 758 KB

Open AccessReview

The Exchange Breathing Method for Seizure Intervention: A Historical and Scientific Review of Epilepsy and Its Evolving Therapeutic Paradigms

by Frederick Robert Carrick, Pamela Daniels, Stephen Pelletier, Sofia Prysmakova, Ahmed Hankir, Mahera Abdulrahman and Nouf Al-Rumaihi

J. Pers. Med. 2025, 15(8), 385; https://doi.org/10.3390/jpm15080385 - 18 Aug 2025

Viewed by 2809

Abstract

Epilepsy is a complex and ancient neurological disorder affecting approximately 50 million individuals globally. Despite significant advancements in pharmacological treatments, surgical procedures, and neurostimulation techniques, a substantial subset of patients remains pharmacoresistant or experiences intolerable side effects, highlighting the need for novel, safe, [...] Read more.

Epilepsy is a complex and ancient neurological disorder affecting approximately 50 million individuals globally. Despite significant advancements in pharmacological treatments, surgical procedures, and neurostimulation techniques, a substantial subset of patients remains pharmacoresistant or experiences intolerable side effects, highlighting the need for novel, safe, and effective interventions. In this review, we examine a promising non-invasive technique known as the Exchange Breathing Method (EBM), developed through the observations of Gemma Herbertson, a British mother who discovered that exhaling gently into her son’s nostrils could consistently interrupt ongoing seizures. The EBM has since gained anecdotal support from a growing international community reporting similar positive outcomes. This paper situates the EBM within the broader historical and clinical context of epilepsy treatment, tracing its evolution from ancient practices to modern therapeutic strategies. We explore the neurophysiological mechanisms that may underlie the EBM, particularly its interaction with autonomic and respiratory pathways implicated in seizure modulation. By integrating emerging grassroots data with current scientific knowledge, this review proposes a rationale for further empirical investigation into the EBM and its potential role in the personalized, emergency management of epilepsy. Full article

(This article belongs to the Special Issue New Advances in the Prevention and Treatment of Neurological Diseases)

15 pages, 563 KB

Open AccessReview

The Role of Oxidative Stress in the Relationship Between Periodontitis and Alzheimer’s Disease: A Review of the Literature

by Konstantinos Antonios Papadakis, Aikaterini-El Doufexi, Mary S. Kalamaki, Evangelos Bourazanas and Evgenia Lymperaki

J. Pers. Med. 2025, 15(8), 384; https://doi.org/10.3390/jpm15080384 - 18 Aug 2025

Viewed by 564

Abstract

Periodontitis, a chronic inflammatory disease affecting the supporting tissues of the teeth, has been linked to the onset of neurological diseases, including Alzheimer’s disease (AD). A primary mechanism connecting these two issues is oxidative stress caused by an imbalance between antioxidant defenses and [...] Read more.

Periodontitis, a chronic inflammatory disease affecting the supporting tissues of the teeth, has been linked to the onset of neurological diseases, including Alzheimer’s disease (AD). A primary mechanism connecting these two issues is oxidative stress caused by an imbalance between antioxidant defenses and reactive oxygen species (ROS) synthesis. This review compiles results from both animal and human studies that explore how oxidative stress resulting from periodontitis leads to neuroinflammation, mitochondrial dysfunction, and cognitive decline in AD. Studies in animals indicate that periodontal infections worsen brain oxidative damage, as evidenced by elevated lipid peroxidation markers, such as malondialdehyde (MDA), and indicators of oxidative DNA damage, including 8-hydroxy-2′-deoxyguanosine (8-OHdG). Additionally, significant reductions in crucial antioxidant enzymes, including superoxide dismutase (SOD) and glutathione peroxidase, along with neuroinflammation and cognitive deficits, are observed in mouse models of induced periodontitis. Supporting evidence from human studies reveals lower total antioxidant capacity (TAC) in individuals with both Alzheimer’s disease (AD) and periodontitis, as well as increased systemic oxidative stress markers, such as advanced oxidation protein products (AOPRs). These findings suggest a mechanistic relationship through oxidative stress pathways between periodontal inflammation and neurodegeneration. Given the extensive impact of periodontitis, enhancing periodontal health could be a viable strategy to reduce oxidative damage and lower the risk of cognitive decline. Further research is needed to clarify causality and to investigate antioxidant treatments aimed at preventing or slowing the progression of AD in patients with periodontal disease. Full article

(This article belongs to the Special Issue Advancing Personalized Medicine: Targeting Oxidative Stress in Neurodegenerative Diseases)

► Show Figures

Figure 1

14 pages, 1192 KB

Open AccessSystematic Review

Treatment Strategies for Patients with Mitral Regurgitation: A Meta-Analysis of Randomized Controlled Trials

by Claudia Carassia, Fiorenzo Simonetti, Hector A. Alvarez Covarrubias, Bernhard Wolf, Costanza Pellegrini, Tobias Rheude, Patrick Fuchs, Ferdinand Roski, Moritz Kühlein, Edna Blum, Gjin Ndrepepa, Teresa Trenkwalder, Michael Joner, Adnan Kastrati, Salvatore Cassese and Erion Xhepa

J. Pers. Med. 2025, 15(8), 383; https://doi.org/10.3390/jpm15080383 - 16 Aug 2025

Viewed by 420

Abstract

Background: Several treatment strategies are available for patients with mitral valve regurgitation (MR). However, evidence regarding their comparative effectiveness remains limited. We sought to compare the performance of different treatment strategies for personalized treatment of patients with MR. Methods: We performed [...] Read more.

Background: Several treatment strategies are available for patients with mitral valve regurgitation (MR). However, evidence regarding their comparative effectiveness remains limited. We sought to compare the performance of different treatment strategies for personalized treatment of patients with MR. Methods: We performed a pairwise and network meta-analyses of randomized trials comparing treatment strategies for patients with MR. Patients were divided in two groups: transcatheter mitral valve repair (TMVR, including edge-to-edge repair and indirect percutaneous annuloplasty) and control (surgery or optimal medical therapy). The primary outcome of this analysis was all-cause death. Main secondary outcomes were re-hospitalization for heart failure and re-intervention. Results: A total of seven trials with 2324 participants, with mainly functional MR (TMVR, n = 1373-control, n = 951) were available for the quantitative synthesis. The median follow-up duration was 14 months. Compared to control therapy, TMVR significantly reduced all-cause death (RR 0.77, 95% CI 0.65–0.91, p = 0.002) and re-hospitalization for heart failure (RR 0.67, 95% CI 0.49–0.91, p = 0.01). Among TMVR strategies, the edge-to-edge repair with MitraClip ranked as possibly the best option to reduce all-cause death. Conclusions: In symptomatic patients with significant MR, TMVR is associated with a significant reduction of all-cause death, and re-hospitalization for heart failure, mainly in patients with functional MR. Additional comparative studies are needed to investigate the best TMVR treatment option, for patients with degenerative MR. Full article

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

► Show Figures

Graphical abstract

3 pages, 164 KB

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

Viewed by 273

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 KB

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

Viewed by 421

Abstract

Frye et al. [...] Full article

(This article belongs to the Section Mechanisms of Diseases)

► Show Figures

Figure 1

12 pages, 963 KB

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

Viewed by 672

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)

► Show Figures

Figure 1

11 pages, 613 KB

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

Viewed by 322

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)

► Show Figures

Figure 1

12 pages, 827 KB

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

Viewed by 412

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 KB

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

Viewed by 513

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)

► Show Figures

Graphical abstract

15 pages, 1728 KB

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

Viewed by 343

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)

► Show Figures

Figure 1

13 pages, 581 KB

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

Viewed by 334

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)

► Show Figures

Figure 1

15 pages, 591 KB

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

Viewed by 292

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)

► Show Figures

Figure 1

12 pages, 7710 KB

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

Viewed by 357

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)

► Show Figures

Graphical abstract

26 pages, 2071 KB

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

Viewed by 395

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)

► Show Figures

Figure 1

10 pages, 482 KB

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

Viewed by 290

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)

► Show Figures

Figure 1

24 pages, 2270 KB

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

Viewed by 877

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)

► Show Figures

Figure 1

22 pages, 1224 KB

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

Viewed by 343

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)

► Show Figures

Graphical abstract

21 pages, 3076 KB

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

Viewed by 528

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)

► Show Figures

Figure 1

29 pages, 799 KB

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

Viewed by 573

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)

► Show Figures

Figure 1

15 pages, 475 KB

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

Viewed by 350

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)

► Show Figures

Figure 1

15 pages, 9593 KB

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

Viewed by 460

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)

► Show Figures

Graphical abstract

Journal Menu

Journal Browser

J. Pers. Med., Volume 15, Issue 8 (August 2025) – 68 articles

Further Information

Guidelines

MDPI Initiatives

Follow MDPI