Journal of Personalized Medicine

13 pages, 476 KiB

Open AccessArticle

High Ocular Disease Burden and Increased Referral Needs in Patients with Chronic Kidney Disease: A Step Toward Personalized Care

by Yulia Liem, Pavitra Thyagarajan, Miao Li Chee, Cynthia Ciwei Lim, Boon Wee Teo and Charumathi Sabanayagam

J. Pers. Med. 2025, 15(5), 204; https://doi.org/10.3390/jpm15050204 - 19 May 2025

Abstract

Background/Objectives: To evaluate the prevalence of eye diseases in patients with confirmed chronic kidney disease (CKD) and their referral patterns to ophthalmologists, with the aim of informing personalized screening and referral strategies. Methods: This study involved 528 CKD patients from a tertiary hospital’s [...] Read more.

Background/Objectives: To evaluate the prevalence of eye diseases in patients with confirmed chronic kidney disease (CKD) and their referral patterns to ophthalmologists, with the aim of informing personalized screening and referral strategies. Methods: This study involved 528 CKD patients from a tertiary hospital’s outpatient renal clinics in Singapore, with CKD defined as an estimated glomerular filtration rate (eGFR) < 60 mL/min/1.73 m². Retinal photographs from each dilated eye were graded for the presence of diabetic retinopathy (DR) and other eye diseases by professional graders. Patients with significant eye conditions were referred to ophthalmologists based on severity and urgency, categorized as urgent (same day or within 24 h), semi-urgent (within 1–2 weeks), fast-track (within 1–3 months), or annual referrals. Results: More than half of the CKD patients (53.7%) had some form of eye disease; 20% were diagnosed with DR, and 29% required fast-track referrals. Of the 251 patients with diabetes, 67% adhered to annual follow-ups; however, despite this regular monitoring, over half required fast-track referrals for severe eye conditions. Among the 167 non-diabetic CKD patients, nearly a third (31%) were on follow-up, with 7.8% requiring fast-track referrals. Notably, 11% of those not on follow-up also needed fast-track referrals. Seven non-diabetic and ten diabetic patients required urgent referral due to critical conditions such as pseudo-holes, impending occlusions, and disc swelling. Conclusions: These findings underscore the high prevalence and severe nature of eye diseases in CKD patients, even those who are under regular annual follow-up. Integrating systematic eye screening into CKD care supports personalized medicine by enabling early detection and tailored interventions, ultimately improving both visual and overall patient outcomes. Full article

(This article belongs to the Special Issue Clinical Advances in Diagnosis and Personalized Treatments of Chronic Kidney Diseases)

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11 pages, 535 KiB

Open AccessReview

Data-Driven Defragmentation: Achieving Value-Based Sarcoma and Rare Cancer Care Through Integrated Care Pathway Mapping

by Bruno Fuchs and Philip Heesen

J. Pers. Med. 2025, 15(5), 203; https://doi.org/10.3390/jpm15050203 - 19 May 2025

Abstract

Sarcomas, a rare and complex group of cancers, require multidisciplinary care across multiple healthcare settings, often leading to delays, redundant testing, and fragmented data. This fragmented care landscape obstructs the implementation of Value-Based Healthcare (VBHC), where care efficiency is tied to measurable patient [...] Read more.

Sarcomas, a rare and complex group of cancers, require multidisciplinary care across multiple healthcare settings, often leading to delays, redundant testing, and fragmented data. This fragmented care landscape obstructs the implementation of Value-Based Healthcare (VBHC), where care efficiency is tied to measurable patient outcomes.ShapeHub, an interoperable digital platform, aims to streamline sarcoma care by centralizing patient data across providers, akin to a logistics system tracking an item through each stage of delivery. ShapeHub integrates diagnostics, treatment records, and specialist consultations into a unified dataset accessible to all care providers, enabling timely decision-making and reducing diagnostic delays. In a case study within the Swiss Sarcoma Network, ShapeHub has shown substantial impact, improving diagnostic pathways, reducing unplanned surgeries, and optimizing radiotherapy protocols. Through AI-driven natural language processing, Fast Healthcare Interoperability Resources, and Health Information Exchanges, HIEs, the platform transforms unstructured records into real-time, actionable insights, enhancing multidisciplinary collaboration and clinical outcomes. By identifying redundancies, ShapeHub also contributes to cost efficiency, benchmarking treatment costs across institutions and optimizing care pathways. This data-driven approach creates a foundation for precision medicine applications, including digital twin technology, to predict treatment responses and personalize care plans. ShapeHub offers a scalable model for managing rare cancers and complex diseases, harmonizing care pathways, improving precision oncology, and transforming VBHC into a reality. This article outlines the potential of ShapeHub to overcome fragmented data barriers and improve patient-centered care. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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11 pages, 1923 KiB

Open AccessArticle

Clinical Outcomes in the Treatment of Pertrochanteric Femur Fractures: A Retrospective Cohort Study

by Cesare Donadono, Domenico Tigani, Andrea Assenza, Davide Censoni, Francesco Pesce and Giuseppe Melucci

J. Pers. Med. 2025, 15(5), 202; https://doi.org/10.3390/jpm15050202 - 19 May 2025

Abstract

Background: Pertrochanteric fractures of the proximal femur present a common challenge for traumatologists, with intramedullary nailing emerging as the preferred treatment. Complication rates are around 20%, including screw jamming, refractures, implant breakage, or medial migration, with cut-out being the most common. A tip–apex [...] Read more.

Background: Pertrochanteric fractures of the proximal femur present a common challenge for traumatologists, with intramedullary nailing emerging as the preferred treatment. Complication rates are around 20%, including screw jamming, refractures, implant breakage, or medial migration, with cut-out being the most common. A tip–apex distance (TAD) of >25 mm and incorrect cephalic screw position are predictive factors for cut-out. This study assesses outcomes using the Elos intramedullary nail, based on the experience of the Department of Orthopedics and Traumatology at Ospedale Maggiore in Bologna. Methods: We conducted a retrospective cohort study of 344 patients treated with the Elos intramedullary nail for pertrochanteric femoral fractures from 1 January 2017 to 31 December 2022. The Elos^®-Intrauma nail was implanted using the standard technique. Initial X-rays classified fractures according to the AO-OTA classification, and postoperative X-rays confirmed the cephalic screw’s placement per Cleveland’s regions. Patients were divided into two groups: optimal cephalic screw position (positions 5-8-9) and other positions. We evaluated TAD, calcar-referred TAD (CalTAD), and postoperative reduction quality using Chang’s criteria. The incidence of cut-out and other complications were assessed in connection with these measurements. Results: Among the 344 patients, 227 (65.9%) had the screw in positions 5-8-9, while 117 (34.1%) had it in other positions. The median TAD was 19.47 ± 6.26 mm (range 3.96–46.6), with TAD ≤ 25 mm in 265 patients (77%). The median CalTAD was 22.37 ± 5.65 mm (range 8.75–45.3), with CalTAD ≤ 25 mm in 231 patients (67.1%). According to Chang’s criteria, 8 cases (2.3%) had poor reduction, 139 cases (40.4%) had acceptable reduction, and 197 cases (57.3%) had excellent reduction. Cut-out occurred in four cases (1.19%). Multivariate analysis revealed only poor reduction and TAD > 25 mm as independent predictors of cut-out (p < 0.05), while cephalic screw position, CalTAD, and fracture type did not impact cut-out incidence. Conclusions: This study indicates that optimal TAD and quality of reduction are crucial for minimizing cut-out risks. The Elos intramedullary nail shows favorable outcomes with a low cut-out incidence when these parameters are met. Emphasis should be placed on achieving a TAD ≤ 25 mm and excellent reduction quality to reduce complications. Full article

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

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17 pages, 252 KiB

Open AccessArticle

Trans-Oral Robotic Surgery (TORS) and Postoperative Hemorrhage: An Analysis of Risk Factors

by Andrea Migliorelli, Elia Biancoli, Marianna Manuelli, Alberto Caranti, Andrea Ciorba, Chiara Bianchini, Giuseppe Meccariello and Claudio Vicini

J. Pers. Med. 2025, 15(5), 201; https://doi.org/10.3390/jpm15050201 - 16 May 2025

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Abstract

Background/Objectives: Postoperative hemorrhage is the most common complication after Trans-Oral Robotic Surgery (TORS) described in the literature. The aim of this study is to assess the presence of any risk factors that may impact postoperative bleeding. Methods: This was a retrospective study [...] Read more.

Background/Objectives: Postoperative hemorrhage is the most common complication after Trans-Oral Robotic Surgery (TORS) described in the literature. The aim of this study is to assess the presence of any risk factors that may impact postoperative bleeding. Methods: This was a retrospective study based on the analysis of patient data. Patients undergoing TORS procedures at the ENT Unit of Forlì Hospital from 2008 to 2022 for OSA (obstructive sleep apnea) or oncological disease and with a minimum follow-up of 30 days were included. The comorbidities analyzed were perioperative anticoagulant/antiplatelet therapy and clinicopathological features concerning the pathology. Total bleeding and severe bleeding (which required management in the operating room) were included. Results: A total of 414 patients (106 oncological TORS and 308 OSA TORS patients) were included. Post-TORS bleeding occurred in 47 cases (11.3%) and severe bleeding in 18 cases (4.3%). The pathology (oncology vs. OSA) treated with TORS did not represent a risk factor (p = 0.466). Antiplatelet intake represented an important risk factor (p = 0.002). Postoperative hemorrhage for oncological TORS occurred in 11.3% patients; of these, 6.6% had severe bleeding. Artery ligation during neck dissection prevented the risk of severe bleeding (p < 0.001). In TORS for OSA, postoperative hemorrhage was found in 11.4% cases, of which 3.6% were major bleeding. Neither the degree of OSA nor the association with other concurrent procedures were risk factors for postoperative bleeding in this study. Conclusions: Patients taking perioperative antiplatelet therapy have an almost 5-fold increased risk of developing postoperative bleeding. The pathology (oncology vs. OSA) does not influence the risk of bleeding. Prophylactic arterial ligation during neck dissection significantly decreases the risk of severe bleeding. Full article

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

15 pages, 1725 KiB

Open AccessArticle

From Preliminary Urinalysis to Decision Support: Machine Learning for UTI Prediction in Real-World Laboratory Data

by Athanasia Sergounioti, Dimitrios Rigas, Vassilios Zoitopoulos and Dimitrios Kalles

J. Pers. Med. 2025, 15(5), 200; https://doi.org/10.3390/jpm15050200 - 16 May 2025

Viewed by 76

Abstract

Background/Objectives: Urinary tract infections (UTIs) are frequently diagnosed empirically, often leading to overtreatment and rising antimicrobial resistance. This study aimed to develop and evaluate machine learning (ML) models that predict urine culture outcomes using routine urinalysis and demographic data, supporting more targeted [...] Read more.

Background/Objectives: Urinary tract infections (UTIs) are frequently diagnosed empirically, often leading to overtreatment and rising antimicrobial resistance. This study aimed to develop and evaluate machine learning (ML) models that predict urine culture outcomes using routine urinalysis and demographic data, supporting more targeted empirical antibiotic use. Methods: A real-world dataset comprising 8065 urinalysis records from a hospital laboratory was used to train five ensemble ML models, including random forest, XGBoost (eXtreme gradient boosting), extra trees, voting classifier, and stacking classifier. Models were developed using 10-fold stratified cross-validation and assessed via clinically relevant metrics including specificity, sensitivity, likelihood ratios, and diagnostic odds ratios (DORs). To enhance screening utility, threshold optimization was applied to the best-performing model (XGBoost) using the Youden index. Results: XGBoost and random forest demonstrated the most balanced diagnostic profiles (AUROC: 0.819 and 0.791, respectively), with DORs exceeding 21. The voting and stacking classifiers achieved the highest specificity (>95%) and positive likelihood ratios (>10) but exhibited lower sensitivity. Feature importance analysis identified positive nitrites, white blood cell count, and specific gravity as key predictors. Threshold tuning of XGBoost improved sensitivity from 70.2% to 87.9% and reduced false negatives by 82%, with an associated NPV of 96.4%. The adjusted model reduced overtreatment by 56% compared to empirical prescribing. Conclusions: ML models based on structured urinalysis and demographic data can support clinical decision-making for UTIs. While high-specificity models may reduce unnecessary antibiotic use, sensitivity trade-offs must be considered. Threshold-optimized XGBoost offers a clinically adaptable tool for empirical treatment decisions by improving sensitivity and reducing overtreatment, thus supporting the more personalized and judicious use of antibiotics. Full article

(This article belongs to the Special Issue Advances in the Use of Machine Learning for Personalized Medicine)

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12 pages, 1985 KiB

Open AccessArticle

Clinicopathological Features of Non-Small Cell Lung Carcinoma with NRAS Mutation

by Andrea Ambrosini-Spaltro, Claudia Rengucci, Laura Capelli, Elisa Chiadini, Chiara Bennati, Angelo Delmonte, Silvia Vecchiarelli, Francesco Limarzi, Sofia Nosseir, Graziana Gallo, Mirca Valli, Paola Ulivi and Daniele Calistri

J. Pers. Med. 2025, 15(5), 199; https://doi.org/10.3390/jpm15050199 - 16 May 2025

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Abstract

(1) Background: NRAS mutations affect fewer than 1% of lung adenocarcinomas. The aim of this study was to describe the clinicopathological features of lung carcinomas with NRAS mutations. (2) Methods: A series of NRAS-mutated lung carcinomas was collected from a molecular [...] Read more.

(1) Background: NRAS mutations affect fewer than 1% of lung adenocarcinomas. The aim of this study was to describe the clinicopathological features of lung carcinomas with NRAS mutations. (2) Methods: A series of NRAS-mutated lung carcinomas was collected from a molecular diagnostic unit (from four hospitals). The cases were analyzed with next-generation sequencing. A log-rank test for overall survival (OS) was calculated. (3) Results: NRAS mutations were detected in 14/1948 samples (0.72%) of non-small-cell lung carcinomas from 13 patients (8 males, 5 females). NRAS mutations involved codon 61 in the majority (9/13, 69.2%) of cases. The other NRAS mutations affected codon 12 (2/13, 15.4%), codon 13 (1/13, 7.7%), and codon 142 (1/13, 7.7%). In 7/13 cases, co-alterations in additional genes were also present. Pleomorphic/sarcomatoid features were identified in 3/13 (23.1%) cases, in 2/8 (25.0%) histological specimens, and in 2/5 (40.0%) surgical specimens, respectively. Follow-up data were available in 11/13 cases, with 6 patients deceased. By a log-rank test, patients with NRAS mutations in codon 61 had a better outcome (estimated mean of 32.6 ± 7.1 months) compared to those with other NRAS mutations (estimated mean of 8.7 ± 4.4 months), with a significant difference (p = 0.048 for OS). (4) Conclusions: Lung carcinomas with NRAS mutation may display pleomorphic or sarcomatoid features. Mutations in codon 61 showed a more favorable prognosis than those in other codons. Full article

(This article belongs to the Special Issue Pathology and Molecular Diagnostics in the Personalized Treatment of Lung Diseases)

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Graphical abstract

13 pages, 797 KiB

Open AccessArticle

Shoulder Tendinopathy Induced by Statins: A Case Report and Systematic Review

by Nicola Manocchio, Carmelo Pirri, Andrea Sorbino, Laura Giordani, Giulia Vita, Concetta Ljoka and Calogero Foti

J. Pers. Med. 2025, 15(5), 198; https://doi.org/10.3390/jpm15050198 - 15 May 2025

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Abstract

Background: Statins are essential for managing cholesterol levels but can induce musculoskeletal side effects, including tendinopathy of the shoulder. Rotator Cuff Disease (RCD) is one of the most common shoulder tendinopathy. The aim of the present study is to report a clinical case [...] Read more.

Background: Statins are essential for managing cholesterol levels but can induce musculoskeletal side effects, including tendinopathy of the shoulder. Rotator Cuff Disease (RCD) is one of the most common shoulder tendinopathy. The aim of the present study is to report a clinical case of statin-induce RCD after performing a systematic review on the subject. Materials and Methods: We performed a systematic review of the literature and report the case of a 49-year-old man with statin-induced RCD treated with a personalized individual rehabilitation project (IRP) (steroid and HA injections, mesotherapy, and therapeutic exercise) to investigate the relationship between statins and shoulder tendinopathy. The review followed PRISMA guidelines (2020 version), searching PubMed, Web of Science, and SCOPUS. Results: Out of a total of 217 articles, three cohort studies were suitable for our review. Conflicting evidence emerged regarding the association between statins and shoulder tendinopathy from the included papers. The case report describes a patient who experienced RCD after increasing atorvastatin dosage, with symptoms improving after dose reduction and a multimodal personalized IRP. Conclusions: Statins may contribute to tendon injury by altering the extracellular matrix and cell membrane integrity. While tendinopathy and statin relation is still under discussion, clinicians should monitor patients for tendinopathy and consider switching to alternative treatments in case symptoms arise. The case report demonstrated the successful management of statin-induced RCD with a multimodal personalized IRP. Further research is needed to clarify the relationship between statins and shoulder tendinopathy. Early diagnosis and appropriate personalized management are crucial for optimizing patient outcomes. Full article

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

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19 pages, 1115 KiB

Open AccessSystematic Review

One-Stop Mitral Valve Transcatheter Edge-to-Edge Repair and Left Atrial Appendage Occlusion in Patients with Atrial Fibrillation and Mitral Regurgitation: A Systematic Review and Meta-Analysis

by Konstantinos Pamporis, Dimitrios Tsiachris, Konstantinos Grigoriou, Paschalis Karakasis, Ioannis Doundoulakis, Panagiotis Theofilis, Panagiotis Kouvatsos, Athanasios Saplaouras, Athanasios Kordalis, Aikaterini-Eleftheria Karanikola, Panagiotis Antonios Goutis and Konstantinos Tsioufis

J. Pers. Med. 2025, 15(5), 197; https://doi.org/10.3390/jpm15050197 - 14 May 2025

Viewed by 132

Abstract

Background/Objectives: Patients with atrial fibrillation and mitral regurgitation (MR) undergoing transcatheter edge-to-edge mitral valve repair (M-TEER) often have concomitant indications for left atrial appendage occlusion (LAAO), mandating a more personalized treatment approach. This study aimed to examine the effectiveness and safety of [...] Read more.

Background/Objectives: Patients with atrial fibrillation and mitral regurgitation (MR) undergoing transcatheter edge-to-edge mitral valve repair (M-TEER) often have concomitant indications for left atrial appendage occlusion (LAAO), mandating a more personalized treatment approach. This study aimed to examine the effectiveness and safety of combining M-TEER/LAAO in one procedure. Methods: MEDLINE (PubMed), Scopus, and Cochrane were searched through 21 March 2025 for studies examining M-TEER/LAAO with or without control (M-TEER only). Double-independent study selection, extraction, and quality assessments were performed. Frequentist random-effects models were used to calculate mean differences (MDs) and risk ratios (RRs) with 95% confidence intervals (CIs). Results: Seven studies (223 participants) were included. For M-TEER/LAAO, the mean procedural time was 101.6 min (95% CI = [85.06, 118.13]), the mean radiation time was 29.97 min (95% CI = [23.85, 36.09]), the mean length of stay was 5.21 days (95% CI = [3.31, 7.12]), procedural success was achieved in 89.5% of cases (95% CI = [73.4, 96.3], and post-procedure MR > 2+ occurred in 14.8% of cases (95% CI = [3.6, 44.5]). Compared to M-TEER only, patients with M-TEER/LAAO had similar procedural (RR = 0.91, 95% CI = [0.71, 1.17]) and technical success (RR = 1, 95% CI = [0.94, 1.06]) with a similar risk of acute kidney injury (RR = 1, 95% CI = [0.07, 15.12]), bleeding (RR = 0.40, 95% CI = [0.01, 18.06]), and all-cause death (RR = 0.59, 95% CI = [0.22, 1.54]). M-TEER/LAAO was non-significantly associated with in-hospital death (RR = 3, 95% CI = [0.13, 70.23]), stroke (RR = 3, 95% CI = [0.13, 70.23]), and vascular complications (RR = 1.55, 95% CI = [0.43, 5.59]) compared to M-TEER only. Most patients (34.2%, 95% CI = [2.8, 90.4]) received dual antiplatelet therapy at discharge, followed by anticoagulation only (20.2%, 95% CI = [7.5, 44.3]). Conclusions: M-TEER/LAAO can be combined into a single procedure with good peri-procedural outcomes. Safety was also satisfactory; however, some concerns may arise regarding in-hospital death, stroke, and vascular complications. Further research is needed to explore the effectiveness and safety of this combined strategy and elucidate the risk–benefit profile of this personalized treatment approach. Full article

(This article belongs to the Special Issue Cardiology and Vascular Health: Pathophysiology, Therapeutics and Epidemiology)

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16 pages, 2552 KiB

Open AccessArticle

Yeast-Produced Human Recombinant Lysosomal β-Hexosaminidase Efficiently Rescues GM2 Ganglioside Accumulation in Tay–Sachs Disease

by Orhan Kerim Inci, Andrés Felipe Leal, Nurselin Ates, Diego A. Súarez, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Diaz and Volkan Seyrantepe

J. Pers. Med. 2025, 15(5), 196; https://doi.org/10.3390/jpm15050196 - 10 May 2025

Viewed by 249

Abstract

Background: Tay–Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder characterized by the accumulation of GM2 ganglioside due to mutations in the HEXA gene, which encodes the α-subunit of β-Hexosaminidase A. This accumulation leads to significant neuropathological effects and premature death in [...] Read more.

Background: Tay–Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder characterized by the accumulation of GM2 ganglioside due to mutations in the HEXA gene, which encodes the α-subunit of β-Hexosaminidase A. This accumulation leads to significant neuropathological effects and premature death in affected individuals. No effective treatments exist, but enzyme replacement therapies are under investigation. In our previous work, we demonstrated the internalization and efficacy of human recombinant lysosomal β-hexosaminidase A (rhHex-A), produced in the methylotrophic yeast Pichia pastoris, in reducing lipids and lysosomal mass levels in fibroblasts and neural stem cells derived from patient-induced pluripotent stem cells (iPSCs). In this study, we further evaluated the potential of rhHex-A to prevent GM2 accumulation using fibroblast and neuroglia cells from a TSD patient alongside a relevant mouse model. Methods: Fibroblasts and neuroglial cell lines derived from a murine model and TSD patients were treated with 100 nM rhHexA for 72 h. After treatment, cells were stained by anti-GM2 (targeting GM2 ganglioside; KM966) and anti-LAMP1 (lysosomal-associated membrane protein 1) colocalization staining and incubated with 50 nM LysoTracker Red DND-99 to label lysosomes. In addition, GM2AP and HEXB expression were analyzed to assess whether rhHex-A treatment affected the levels of enzymes involved in GM2 ganglioside degradation. Results: Immunofluorescence staining for LysoTracker and colocalization studies of GM2 and Lamp1 indicated reduced lysosomal mass and GM2 levels. Notably, rhHex-A treatment also affected the expression of the HEXB gene, which is involved in GM2 ganglioside metabolism, highlighting a potential regulatory interaction within the metabolic pathway. Conclusions: Here, we report that rhHex-A produced in yeast can efficiently degrade GM2 ganglioside and rescue lysosomal accumulation in TSD cells. Full article

(This article belongs to the Special Issue Inborn Errors of Metabolism: From Pathomechanisms to Treatment)

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25 pages, 1626 KiB

Open AccessSystematic Review

Methodologies for the Emulation of Biomarker-Guided Trials Using Observational Data: A Systematic Review

by Faye D. Baldwin, Rukun K. S. Khalaf, Ruwanthi Kolamunnage-Dona and Andrea L. Jorgensen

J. Pers. Med. 2025, 15(5), 195; https://doi.org/10.3390/jpm15050195 - 10 May 2025

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Abstract

Background: Target trial emulation involves the application of design principles from randomised controlled trials (RCTs) to observational data, and is particularly useful in situations where an RCT would be unfeasible. Biomarker-guided trials, which incorporate biomarkers within their design to either guide treatment [...] Read more.

Background: Target trial emulation involves the application of design principles from randomised controlled trials (RCTs) to observational data, and is particularly useful in situations where an RCT would be unfeasible. Biomarker-guided trials, which incorporate biomarkers within their design to either guide treatment and/or determine eligibility, are often unfeasible in practice due to sample size requirements or ethical concerns. Here, we undertake a systematic review of methodologies used in target trial emulations, comparing treatment effectiveness, critically appraising them, and considering their applicability to the emulation of biomarker-guided trials. Methods: A comprehensive search strategy was developed to identify studies reporting on methods for target trial emulation comparing the effectiveness of treatments using observational data, and applied to the following bibliographic databases: PubMed, Scopus, Web of Science, and Ovid MEDLINE. A narrative description of methods identified in the review was undertaken alongside a critique of their relative strengths and limitations. Results: We identified a total of 59 papers: 47 emulating a target trial (‘application’ studies), and 12 detailing methods to emulate a target trial (‘methods’ studies). A total of 25 papers were identified as emulating a biomarker-guided trial (42%). While all papers reported methods to adjust for baseline confounding, 40% of application papers did not specify methods to adjust for time-varying confounding. Conclusions: This systematic review has identified a range of methods used to control for baseline, time-varying, and residual/unmeasured confounding within target trial emulation and provides a guide for researchers interested in emulation of biomarker-guided trials. Full article

(This article belongs to the Section Disease Biomarker)

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17 pages, 2456 KiB

Open AccessArticle

The Accuracy of ChatGPT-4o in Interpreting Chest and Abdominal X-Ray Images

by Pietro G. Lacaita, Malik Galijasevic, Michael Swoboda, Leonhard Gruber, Yannick Scharll, Fabian Barbieri, Gerlig Widmann and Gudrun M. Feuchtner

J. Pers. Med. 2025, 15(5), 194; https://doi.org/10.3390/jpm15050194 - 10 May 2025

Viewed by 386

Abstract

Background/Objectives: Large language models (LLMs), such as ChatGPT, have emerged as potential clinical support tools to enhance precision in personalized patient care, but their reliability in radiological image interpretation remains uncertain. The primary aim of our study was to evaluate the diagnostic accuracy [...] Read more.

Background/Objectives: Large language models (LLMs), such as ChatGPT, have emerged as potential clinical support tools to enhance precision in personalized patient care, but their reliability in radiological image interpretation remains uncertain. The primary aim of our study was to evaluate the diagnostic accuracy of ChatGPT-4o in interpreting chest X-rays (CXRs) and abdominal X-rays (AXRs) by comparing its performance to expert radiology findings, whilst secondary aims were diagnostic confidence and patient safety. Methods: A total of 500 X-rays, including 257 CXR (51.4%) and 243 AXR (48.5%), were analyzed. Diagnoses made by ChatGPT-4o were compared to expert interpretations. Confidence scores (1–4) were assigned and responses were evaluated for patient safety. Results: ChatGPT-4o correctly identified 345 of 500 (69%) pathologies (95% CI: 64.81–72.9). For AXRs 175 of 243 (72.02%) pathologies were correctly diagnosed (95% CI: 66.06–77.28), while for CXRs 170 of 257 (66.15%) were accurate (95% CI: 60.16–71.66). The highest detection rates among CXRs were observed for pulmonary edema, tumor, pneumonia, pleural effusion, cardiomegaly, and emphysema, and lower rates were observed for pneumothorax, rib fractures, and enlarged mediastinum. AXR performance was highest for intestinal obstruction and foreign bodies, and weaker for pneumoperitoneum, renal calculi, and diverticulitis. Confidence scores were higher for AXRs (mean 3.45 ± 1.1) than CXRs (mean 2.48 ± 1.45). All responses (100%) were considered to be safe for the patient. Interobserver agreement was high (kappa = 0.920), and reliability (second prompt) was moderate (kappa = 0.750). Conclusions: ChatGPT-4o demonstrated moderate accuracy for the interpretation of X-rays, being higher for AXRs compared to CXRs. Improvements are required for its use as efficient clinical support tool. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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10 pages, 571 KiB

Open AccessArticle

Study on the Epidemiological Characteristics, Treatment Patterns, and Factors Influencing the Timeliness of Treatment in Head and Neck Squamous Cell Carcinoma (HNSCC) in Stages III and IV: Experience of a Mexican Hospital

by Victor Manuel Oyervides Juarez, Daneli Ruiz Sanchez, Alejandro De Leon Cruz, Luis Angel Ceceñas Falcon, Marco Mendez Saenz, Carlos Alfredo Gomez de la Cruz, Mario Alberto Campos Coy, Juan Manuel Sánchez Castillo, Oscar Vidal Gutierrez, Joaquin Manzo Merino, Silvia Peralonso Bombin, Yuridia Evangelina Rodríguez Rosales, Gabriela Lugo Martinez, Jimena Maria Iglesias, Sebastian Medina Gonzalez and Claudia Catalina Beltran Rodriguez

J. Pers. Med. 2025, 15(5), 193; https://doi.org/10.3390/jpm15050193 - 9 May 2025

Viewed by 299

Abstract

Objective: In Mexico, head and neck cancers pose a significant health burden. GLOBOCAN reported approximately 3183 new cases and 1636 deaths in 2020. Despite being the sixth leading cause of cancer incidence and mortality worldwide, data on epidemiology and treatment patterns in Mexico [...] Read more.

Objective: In Mexico, head and neck cancers pose a significant health burden. GLOBOCAN reported approximately 3183 new cases and 1636 deaths in 2020. Despite being the sixth leading cause of cancer incidence and mortality worldwide, data on epidemiology and treatment patterns in Mexico remain limited. This study aimed to characterize the profile, clinical features, and management of patients with Stage III–IVB head and neck squamous cell carcinoma (HNSCC) in a real-world setting. Methods: We retrospectively analyzed a database of 187 patients with Stage III, IVA, or IVB HNSCC treated at the University Hospital Dr. José Eleuterio González. Demographics, disease characteristics, and treatment patterns were summarized as frequencies and percentages. Exploratory endpoints included clinical outcomes and recurrence types. Results: The cohort was 82.9% male (n = 155). The most frequent tumor sites were the oral cavity (36.9%) and larynx (36.9%), with 55% (n = 103) diagnosed at stage IVA. Of 75 cases tested for p16, 35.3% (n = 36) were positive. The median time from symptom onset to diagnosis was 166.5 days (95% CI: 123.4–197.8) and from diagnosis to treatment 42 days (95% CI: 31.6–50.4). Initial treatments included surgery (36.4%), chemoradiotherapy (24.6%), induction chemotherapy (19.8%), supportive care (11.2%), and radiotherapy (8%). Locoregional control was achieved in 42.8% of patients, with an overall recurrence rate of 2.8%. Conclusions: This study provides real-world insights into the epidemiology and management of locally advanced HNSCC in Mexico, outlining the patient journey from initial symptoms to treatment and underscoring the need for more individualized therapeutic strategies based on molecular profiling and clinical characteristics. Full article

(This article belongs to the Section Epidemiology)

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16 pages, 1030 KiB

Open AccessSystematic Review

Three in a Bed: Can Partner Support Improve CPAP Adherence? A Systematic Review and Intervention Recommendations

by Giada Rapelli, Carola Caloni, Francesca Cattaneo, Marco Redaelli, Roberto Cattivelli, Giulia Landi, Eliana Tossani, Silvana Grandi, Gianluca Castelnuovo and Giada Pietrabissa

J. Pers. Med. 2025, 15(5), 192; https://doi.org/10.3390/jpm15050192 - 8 May 2025

Viewed by 266

Abstract

Background/Objectives: Continuous positive airway pressure (CPAP) is the standard approach for treating obstructive sleep apnea syndrome (OSAS), but patient adherence is often low due to various influencing factors. Recently, researchers have increasingly begun to explore the influence of partner support on adherence [...] Read more.

Background/Objectives: Continuous positive airway pressure (CPAP) is the standard approach for treating obstructive sleep apnea syndrome (OSAS), but patient adherence is often low due to various influencing factors. Recently, researchers have increasingly begun to explore the influence of partner support on adherence to CPAP therapy. This systematic review seeks to consolidate current evidence regarding the impact of partner support on CPAP adherence in individuals with OSAS. Methods: A comprehensive literature search was carried out across PubMed, Scopus, Medline, PsycINFO, and Web of Science databases under PRISMA guidelines. Stringent inclusion criteria were used, and at least two independent reviewers screened all studies. The mixed methods appraisal tool (MMAT) was used to assess selected articles for quality. Data relevant to the review’s objectives were extracted and presented through narrative synthesis. The review protocol was preregistered (Prospero CRD420251016574). Results: Nine studies met the inclusion criteria. Findings highlighted the significant influence of adherence to CPAP. Partner support, relationship quality, and collaborative efforts emerged as facilitators of adherence, with partnered individuals exhibiting higher adherence to CPAP use. However, barriers such as anxiety, interruption in intimacy, and conflict in relationships were also identified. Conclusions: To the best of our knowledge, this is the first systematic review to synthesize evidence on the partner’s role in CPAP adherence and inform clinicians on the importance of providing personalized care based on biopsychosocial characteristics of patients; for example, assessing the partner support in the management of the illness. Furthermore, the findings emphasize the need for further research—particularly randomized controlled trials and dyadic designs—to deepen understanding of how partner dynamics influence effects of CPAP treatment. Full article

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

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11 pages, 811 KiB

Open AccessArticle

From Consultation to Collaboration: A Patient-Centered Approach to Shingles Pain and Postherpetic Neuralgia Management

by Yin-Tse Wu, Hsuan-Chih Lao, Sheng-Chin Kao, Ying-Chun Lin, Ying-Wei Yang, Ying-Hsin Li and Yi-Jun Chen

J. Pers. Med. 2025, 15(5), 191; https://doi.org/10.3390/jpm15050191 - 8 May 2025

Viewed by 163

Abstract

Background/Objectives: Herpes zoster (shingles), caused by reactivation of the varicella zoster virus, often leads to acute pain that may progress to postherpetic neuralgia (PHN). Current evidence is insufficient to determine the optimal interventional treatment for these conditions. This study aimed to evaluate [...] Read more.

Background/Objectives: Herpes zoster (shingles), caused by reactivation of the varicella zoster virus, often leads to acute pain that may progress to postherpetic neuralgia (PHN). Current evidence is insufficient to determine the optimal interventional treatment for these conditions. This study aimed to evaluate the effectiveness of shared decision-making (SDM) forms developed by MacKay Memorial Hospital (MMH) in reducing patient anxiety and improving personalized care. Method: Between 1 August 2022 and 30 August 2024, we retrospectively reviewed SDM records of patients with shingles pain and PHN who were referred to the pain clinic for interventional treatment due to unresolved pain. The SDM forms were developed, reviewed, and authorized by the MMH Committee of Medical Quality and Safety. We analyzed the chosen interventions, anxiety levels, pain intensity, and patient preferences regarding treatment selection. Results: A total of 51 individuals (36 with shingles pain, 15 with PHN) were included in this cohort study. Most patients with acute or chronic zoster pain opted for subcutaneous steroid injections. Anxiety scores significantly decreased following SDM intervention, from 5.0 (IQR: 3.5–5.0) to 3.0 (IQR: 2.0–3.0) in shingles patients and from 5.0 (IQR: 4.0–5.0) to 2.0 (IQR: 2.0–3.0) in PHN patients. Pain intensity, measured using the numerical rating scale (NRS), also improved markedly after interventional pain management, with scores reducing from 8.0 (IQR: 6.0–9.0) to 3.0 (IQR: 1.0–6.5) in shingles patients and from 5.0 (IQR: 4.0–8.0) to 2.0 (IQR: 1.0–3.0) in PHN patients. Shingles patients expressed greater concern about the risks of interventional therapy complications, whereas PHN patients prioritized cost, complication rates, treatment frequency, and continuity of care. Additionally, SDM forms received high scores for promoting patient participation and knowledge, indicating that they improved their understanding of their condition and treatment options. Conclusions: SDM significantly improved patient comprehension, reduced anxiety, facilitated informed treatment decisions, and strengthened doctor–patient communication for those with shingles pain and PHN. Full article

(This article belongs to the Special Issue How to Undertake Personalized Assessments and Cures for Pain)

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12 pages, 744 KiB

Open AccessReview

Tissue Preservation and Access: Modern Innovation in Biobanking Moving Forwards a Personalized Treatment

by Chiara Tessari, Saima Jalil Imran, Nukhba Akbar and Gino Gerosa

J. Pers. Med. 2025, 15(5), 190; https://doi.org/10.3390/jpm15050190 - 7 May 2025

Viewed by 117

Abstract

Tissue substitution and graft transplantation are currently the best treatment options for patients suffering from severe heart diseases. However, the limited availability of donors and the restricted durability of tissues applied in cardiovascular treatments result in a constraint on applicability and a suboptimal [...] Read more.

Tissue substitution and graft transplantation are currently the best treatment options for patients suffering from severe heart diseases. However, the limited availability of donors and the restricted durability of tissues applied in cardiovascular treatments result in a constraint on applicability and a suboptimal therapeutic approach that is still not fully resolved. There are multiple ways to preserve heart tissue grafts, and the choice of method is solely dependent upon the nature and complexity of the tissue and the length of storage. The conventional cold storage method provides the base to nearly all of the preservation protocols for short- and long-term storage. Short-term storage methods frequently rely on designing preserving solutions to protect the graft against warm and cold ischemia at the temperature above freezing point. As ice-nucleation is the major notorious phenomenon during graft preservation, the modern era of research is focusing on developing ice-free preservation techniques, termed vitrification. However, despite the promising outcomes of vitrification, there are several recognized hurdles required to be overcome to build a biobank of heart grafts for an extended period of time. Besides tissue deterioration due to extreme cold temperature, there is another extreme phenomenon of tissue rejection mainly caused by the presence of cellular antigens. The modern approach of decellularization has the potential to minimize the chances of tissue rejection by removing the cells and providing a structural support and sustained biochemical signal via keeping the extracellular matrix of the graft intact. In conclusion, both nano-warming and decellularization are the leading approaches that have great potential to store the graft tissue in its optimal form via keeping its viability safe for a longer time and extending its applicability. This review article outlines a variety of approaches for the preservation and bioengineering of tissue to fulfill the need for the availability of on-shelf long-lasting grafts both in clinical and laboratory setups. Full article

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

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Open AccessArticle

Real-Life Treatment Intervals and Morphological Outcomes Following the Switch to Faricimab Therapy in Neovascular Age-Related Macular Degeneration

by Katrin Löw, Vasilena Sitnilska, Yuhe Tang, Jeany Q. Lammert, Tim U. Krohne and Lebriz Altay

J. Pers. Med. 2025, 15(5), 189; https://doi.org/10.3390/jpm15050189 - 6 May 2025

Viewed by 211

Abstract

Objectives: To evaluate the efficacy of faricimab in patients with neovascular age-related macular degeneration (nAMD) that did not respond to other VEGF inhibitors. Methods: This retrospective study included the eyes of patients diagnosed with nAMD who had been switched to faricimab [...] Read more.

Objectives: To evaluate the efficacy of faricimab in patients with neovascular age-related macular degeneration (nAMD) that did not respond to other VEGF inhibitors. Methods: This retrospective study included the eyes of patients diagnosed with nAMD who had been switched to faricimab treatment due to the persistence of intraretinal fluid (IRF) and/or subretinal fluid (SRF), despite monthly anti-VEGF treatment with aflibercept, bevacizumab, or ranibizumab using the treat and extend regimen, and who had received at least three faricimab injections following the switch. Best-corrected visual acuity (BCVA) measurement and optical coherence tomography (OCT) analysis were performed at each visit, and the OCT results were graded by two independent readers. Results: We included 41 eyes of 39 patients (21 male, 18 female) with a mean age of 80.5 ± 8.1 years. The median duration of anti-VEGF treatment prior to the switch to faricimab was 5.0 years, with a median of 53 injections. Complete resolution of IRF and SRF was observed after the first dose of faricimab in 12 eyes (29.3%) and after the third dose in 15 eyes (36.6%). Twenty-eight eyes reached a follow-up time after a switch of at least 12 months, with a median of 10 faricimab injections. Of these 28 eyes, 10 eyes (35.7%) exhibited complete IRF/SRF resolution; treatment intervals were extended beyond 4 weeks in 21 eyes (80.7%), and 8 eyes (28.6%) presented complete IRF/SRF resolution under extended treatment intervals at month 12. Central retinal thickness after 12 months was reduced from a median of 368.0 µm to 297.5 µm (p < 0.001), and the BCVA remained stable (p = 0.057). No adverse events were reported throughout the entire treatment period. Conclusions: In nAMD patients with poor anti-VEGF treatment response, complete and fast fluid resolution and the extension of treatment intervals can be reached by switching to faricimab, even after years of prior unsuccessful therapy. Full article

(This article belongs to the Special Issue Personalized Medicine in Retinal Diseases)

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3 pages, 321 KiB

Open AccessCorrection

Correction: Zieliński, G.; Gawda, P. Analysis of the Use of Sample Size and Effect Size Calculations in a Temporomandibular Disorders Randomised Controlled Trial—Short Narrative Review. J. Pers. Med. 2024, 14, 655

by Grzegorz Zieliński and Piotr Gawda

J. Pers. Med. 2025, 15(5), 188; https://doi.org/10.3390/jpm15050188 - 6 May 2025

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Abstract

In the original publication [...] Full article

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11 pages, 3510 KiB

Open AccessArticle

Antibiotic-Mixed Cement Filling for Chronic Osteomyelitis

by Seung-Hwan Park, Young Rak Choi, Inyong Jeong and Ho Seong Lee

J. Pers. Med. 2025, 15(5), 187; https://doi.org/10.3390/jpm15050187 - 6 May 2025

Viewed by 198

Abstract

Background/Objectives: Traditional treatment for chronic osteomyelitis is temporary implantation of antibiotic-impregnated cement beads, followed by bone grafting after the infection is controlled. In this way, a staged operation is needed, and undergoing repetitive general anesthesia is a burden. Moreover, damage to the soft [...] Read more.

Background/Objectives: Traditional treatment for chronic osteomyelitis is temporary implantation of antibiotic-impregnated cement beads, followed by bone grafting after the infection is controlled. In this way, a staged operation is needed, and undergoing repetitive general anesthesia is a burden. Moreover, damage to the soft tissue at the surgical site due to several incisions is a concern. This study was conducted to investigate the outcomes of one-stage antibiotic-mixed cement blocks, instead of beads, used as a primary salvage procedure to treat chronic osteomyelitis of the foot, ankle, and lower leg. Methods: Twenty patients with chronic osteomyelitis of the leg and foot were included. They underwent complete debridement of the infected bone, and antibiotic-mixed cement fillings were placed into the defected bone space. Full-weight-bearing activities were allowed immediately after surgery. Results: For 16 of the 18 patients, infection was controlled after one-time surgery. Repeat antibiotic cement-filling surgery was necessary for two patients. Two-staged surgery with continuous irrigation and cement filling was necessary for one large tibial lesion. Conversion into arthrodesis of the metatarsophalangeal joint was necessary for metatarsal head infection. Conclusions: One-stage surgery with complete debridement and antibiotic-mixed cement filling is a simple and effective procedure for treating intractable chronic osteomyelitis, which makes full-weight-bearing walking possible immediately after surgery. Full article

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

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9 pages, 722 KiB

Open AccessArticle

Accuracy of Patient-Specific Osteosynthesis in Bimaxillary Surgery: Comparative Feasibility Analysis of Four- and Two-Miniplate Fixation

by Hylke van der Wel, Haye Glas, Johan Jansma and Rutger Schepers

J. Pers. Med. 2025, 15(5), 186; https://doi.org/10.3390/jpm15050186 - 4 May 2025

Viewed by 212

Abstract

Background/Objectives: Patient-specific osteosynthesis (PSO) plates, in combination with virtual surgical planning (VSP), have significantly improved the accuracy of orthognathic surgery. This study aimed to compare the surgical accuracy of two-plate versus four-plate fixation methods in Le Fort I osteotomies using PSO. Methods [...] Read more.

Background/Objectives: Patient-specific osteosynthesis (PSO) plates, in combination with virtual surgical planning (VSP), have significantly improved the accuracy of orthognathic surgery. This study aimed to compare the surgical accuracy of two-plate versus four-plate fixation methods in Le Fort I osteotomies using PSO. Methods: A retrospective cohort study was conducted on 21 patients who underwent maxilla-first bimaxillary surgery at a single centre in 2024. Eight patients received two-plate fixation, while thirteen received four-plate fixation. All surgeries were planned using VSP. Postoperative cone beam computed tomography scans were used to assess the accuracy of maxillary positioning by comparing the planned versus achieved outcomes in terms of translation and rotation. Results: Both fixation methods yielded comparable results in maxillary positioning, with no significant differences observed between the two groups regarding translational or rotational deviations. The two-plate PSO approach demonstrated practical benefits, including reduced material usage and the potential for smaller surgical incisions, without compromising surgical accuracy. Conclusions: Two-plate PSO fixation is a viable alternative to the traditional four-plate method for Le Fort I osteotomies, offering similar accuracy with potential procedural advantages. While these findings support broader clinical adoption, further research is warranted to confirm the results in larger cohorts and to investigate biomechanical considerations. Full article

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

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15 pages, 5739 KiB

Open AccessArticle

Prevalence of Actionable Exposures to Pharmacogenetic Medications Among Solid Organ Transplant Recipients in a Population-Scale Biobank

by Alaa Radwan, Kimberly M. Deininger, Amrut V. Ambardekar, Heather D. Anderson, Nicholas Rafaels, Laura M. Saba, The Colorado Center for Personalized Medicine and Christina L. Aquilante

J. Pers. Med. 2025, 15(5), 185; https://doi.org/10.3390/jpm15050185 - 2 May 2025

Viewed by 233

Abstract

Background/Objectives: Solid organ transplant (SOT) recipients are exposed to multiple medications, many of which have pharmacogenetic (PGx) prescribing recommendations. This study leveraged data from a population-scale biobank and an enterprise data warehouse to determine the prevalence of actionable exposures to PGx medications [...] Read more.

Background/Objectives: Solid organ transplant (SOT) recipients are exposed to multiple medications, many of which have pharmacogenetic (PGx) prescribing recommendations. This study leveraged data from a population-scale biobank and an enterprise data warehouse to determine the prevalence of actionable exposures to PGx medications among kidney, heart, and lung transplant recipients during the first six months post-transplant. Methods: We conducted a retrospective analysis of adult SOT patients with genetic data available from the Colorado Center for Personalized Medicine (CCPM) biobank and clinical data from Health Data Compass (HDC). We evaluated 29 variants in 13 pharmacogenes and 42 Clinical Pharmacogenetics Implementation Consortium (CPIC) level A or B medications (i.e., sufficient evidence to recommend at least one prescribing action based on genetics). The primary outcome was actionable exposure to a PGx medication (i.e., actionable phenotype and a prescription for an affected PGx medication). Results: The study included 358 patients. All patients were prescribed at least one PGx medication, and 49.4% had at least one actionable exposure to a PGx medication during the first six months post-transplant. The frequency of actionable exposure was highest for tacrolimus (15.4%), followed by proton pump inhibitors (PPIs) (15.1%) and statins (12.8%). Statin actionable exposures significantly differed by transplant type, likely due to variations in prescribing patterns and actionable phenotypes for individual statins. Conclusions: Our findings highlight the potential clinical utility of PGx testing among SOT patients. Further studies are needed to address the impact on clinical outcomes and the optimal timing of PGx testing in the SOT population. Full article

(This article belongs to the Section Pharmacogenetics)

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13 pages, 1104 KiB

Open AccessReview

Temporary Mechanical Support in Cardiogenic Shock Secondary to Heart Failure: An Evolving Paradigm

by Nandini Nair, Dongping Du and Balakrishnan Mahesh

J. Pers. Med. 2025, 15(5), 184; https://doi.org/10.3390/jpm15050184 - 2 May 2025

Viewed by 495

Abstract

Cardiogenic shock can be defined as a state of circulatory collapse resulting in hypoperfusion and end-organ dysfunction. It carries a large burden of mortality, but management strategies are driven by expert consensus rather than adequately powered randomized clinical trials. The goal of this [...] Read more.

Cardiogenic shock can be defined as a state of circulatory collapse resulting in hypoperfusion and end-organ dysfunction. It carries a large burden of mortality, but management strategies are driven by expert consensus rather than adequately powered randomized clinical trials. The goal of this review is to highlight the differences in presentation and outcomes in cardiogenic shock depending on the etiology, such as acute myocardial infarction (AMI) versus acute-on-chronic heart failure (HF), gender-based differences in treatment strategies and outcomes and the need for more precise risk stratification and modeling to improve the efficiency of treatment delivery in a personalized fashion. PubMed and Google Scholar were used to search the literature for this qualitative review. The differences in gender and etiology of cardiogenic shock are not consistent in all studies in the exiting literature. There is a need for identification of novel risk factors that define the different phenotypes that present with similar hemodynamic and biomarker profiles. There is an urgent need to devise a methodology to understand and differentiate the different cardiogenic shock phenotypes and their trajectories. Better risk prediction models should be generated to help deliver well-tailored treatment, paving the way to the efficient delivery of personalized medicine. Full article

(This article belongs to the Special Issue New Perspectives of Critical Care Medicine)

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11 pages, 627 KiB

Open AccessSystematic Review

Endoscopic Sinus Surgery in Frontal Sinus Inverted Papilloma: A Systematic Review

by Maxime Fieux, Valentin Favier, Andre Sousa Machado, Mikail Nourredine, Caroline Giroudon, Florent Carsuzaa, Paresh P. Naik and the yo-IFOS Group

J. Pers. Med. 2025, 15(5), 183; https://doi.org/10.3390/jpm15050183 - 2 May 2025

Viewed by 273

Abstract

Background: Frontal sinus inverted papilloma (IP) is a particularly rare form of IP and its management is challenging, with a high rate of recurrence. Objectives: Our aim was to evaluate the recurrence rate of frontal sinus IP after surgery and compare [...] Read more.

Background: Frontal sinus inverted papilloma (IP) is a particularly rare form of IP and its management is challenging, with a high rate of recurrence. Objectives: Our aim was to evaluate the recurrence rate of frontal sinus IP after surgery and compare this rate according to the surgical modality (purely endoscopic sinus surgery vs. a combined/open approach). Design: A systematic review without meta-analysis conducted by a working group of the Young Otolaryngologists of the International Federation of Otorhinolaryngological Societies (yo-IFOS). Data Sources and Methods: A systematic analysis of the literature was performed and reported following the criteria laid down in the SWiM guidelines. The review was registered on Prospero, a dedicated software was used for screening (Covidence), and R (v.4.2.2) was used for statistical analysis. Eligible articles were studies reporting at least five cases of frontal sinus IP surgically treated. Results: A total of 2925 studies were identified based on the MeSH equation, and 39 studies were included (n = 642 patients). Among the studies included, the recurrence rate was 18.4% (118/642) with a mean time to recurrence of 25.6 (±11.7) months. The difference between surgical modalities was not statistically significant in terms of recurrence rate (14.7% vs. 16.5%; p = 0.675). Conclusions: The recurrence rate of frontal sinus IP is not different between surgical modalities. However, it does not reduce the need for a tailored therapeutic strategy, as other factors also need to be considered (time to recurrence, complications, quality of life) when choosing the most appropriate approach. Full article

(This article belongs to the Special Issue Personalized Medicine for Otolaryngology (ENT))

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10 pages, 715 KiB

Open AccessArticle

Association of MMP-8 -799C/T Polymorphism with Peri-Implantitis: A Cross-Sectional Study

by Ioannis Fragkioudakis, Christine Kottaridi, Aikaterini-Elisavet Doufexi, Konstantinos Papadimitriou, Leonidas Batas and Dimitra Sakellari

J. Pers. Med. 2025, 15(5), 182; https://doi.org/10.3390/jpm15050182 - 1 May 2025

Viewed by 232

Abstract

Purpose: This study explored the relationship between matrix metalloproteinase−8 (MMP−8) gene polymorphisms (−799C/T, −381A/G, and +17C/G) and peri-implantitis, examining clinical parameters including the probing depth (PD), clinical attachment level (CAL), and bleeding on probing (BOP). Methods: This cross-sectional study involved 120 [...] Read more.

Purpose: This study explored the relationship between matrix metalloproteinase−8 (MMP−8) gene polymorphisms (−799C/T, −381A/G, and +17C/G) and peri-implantitis, examining clinical parameters including the probing depth (PD), clinical attachment level (CAL), and bleeding on probing (BOP). Methods: This cross-sectional study involved 120 participants categorized into peri-implantitis and healthy implant groups according to the 2018 classification criteria for periodontal and peri-implant diseases. Saliva samples were analyzed for MMP−8 polymorphisms using polymerase chain reaction (PCR) and Sanger sequencing. Statistical analyses were conducted to evaluate genotype- and allele-specific risks and their associations with clinical parameters. Results: Among the 95 samples analyzed, the −799C/T polymorphism was significantly associated with peri-implantitis, with T allele carriers having a higher diagnosis rate (odds ratio: 3.04, p = 0.010). Although T allele carriers exhibited higher mean values for the probing depth (PD), clinical attachment level (CAL), and bleeding on probing (BOP), these differences were not statistically significant across genotypes. No associations were found between the −381A/G and +17C/G polymorphisms and peri-implantitis clinical parameters. Conclusions: The −799C/T polymorphism, specifically the T allele, is strongly linked to peri-implantitis, indicating its potential as a genetic marker for disease susceptibility. Further research is required to investigate the role of MMP-8 polymorphisms in peri-implant diseases and to advance the development of personalized diagnostic tools. Full article

(This article belongs to the Section Mechanisms of Diseases)

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16 pages, 3596 KiB

Open AccessArticle

Central Nervous System Metastases from Primary Lung Carcinoma: Significance of RNA Fusion Testing and Early Versus Late Metastases

by Michelle Garlin Politis, Mahesh Mansukhani, Benjamin O. Herzberg, Lanyi N. Chen, Mark Stoopler, Maelle Saliba, Markus Siegelin, Zhe Zhu, Joshua Sonett, Brian S. Henick, Simon K. Cheng, Swarnali Acharyya, Catherine A. Shu, Michael L. Miller, Benjamin Izar, Helen Fernandes, Susan Hsiao and Anjali Saqi

J. Pers. Med. 2025, 15(5), 181; https://doi.org/10.3390/jpm15050181 - 1 May 2025

Viewed by 223

Abstract

Background/Objectives: While the genomic landscape of primary lung carcinomas is well characterized, there is a relative scarcity of fusion data on corresponding central nervous system (CNS) metastases. This study aimed to elucidate the molecular profiles of CNS metastases to (1) assess the significance [...] Read more.

Background/Objectives: While the genomic landscape of primary lung carcinomas is well characterized, there is a relative scarcity of fusion data on corresponding central nervous system (CNS) metastases. This study aimed to elucidate the molecular profiles of CNS metastases to (1) assess the significance of a combined DNA–reflex RNA fusion testing approach and (2) compare the mutational landscape between patients who present initially [early (≤2 months)] with CNS metastases and those who develop CNS metastases thereafter [late (>2 months)]. Methods: We performed a retrospective search of CNS metastases of adenocarcinoma of probable lung origin interrogated by targeted DNA–reflex RNA next-generation sequencing (NGS). The DNA NGS panel included the driver mutations EGFR, BRAF, KRAS, MET, and ERBB2. RNA NGS included ALK, RET, ROS1, and MET. Additionally, mutational profiles were examined between those with early versus late CNS metastases. Results: Of the 58 patients, 44 (75.9%) had mutations or alterations, including 34 identified by DNA NGS [EGFR (n = 17; 50.0%), KRAS (n = 15; 44.1%), MET (n = 2; 5.9%)] and 10/24 by RNA NGS [ALK (n = 7; 70%), MET (n = 2; 20%), ROS1 (n = 1; 10%)]. Of all patients, 32 (55%) presented with early and 26 (45%) with late CNS metastases. Although patients with early metastases had worse survival compared to those with late metastases (p < 0.001), there were no statistically significant differences in the mutational profiles between the two cohorts. Conclusions: A significant proportion of CNS metastases without driver mutations identified by DNA NGS had targetable alterations identified by RNA NGS (10/24, 41.7%). In summary, a combined DNA with reflex RNA fusion testing approach plays a significant role in detecting and potentially managing CNS metastases. Comprehensive prospective studies are essential to elucidate the differences between early and late CNS metastases. Full article

(This article belongs to the Special Issue Pathology and Molecular Diagnostics in the Personalized Treatment of Lung Diseases)

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16 pages, 251 KiB

Open AccessArticle

Personalized Care in Advance Care Planning with Cancer and Chronic Progressive Diseases Using the Go Wish Game

by Sara Alquati, Marta Perin, Simona Sacchi, Ludovica De Panfilis and Silvia Tanzi

J. Pers. Med. 2025, 15(5), 180; https://doi.org/10.3390/jpm15050180 - 30 Apr 2025

Viewed by 258

Abstract

Background: The Go Wish Game (GWG) is a card game designed to ease Advance Care Planning (ACP) discussions. It helps patients to consider their values and priorities, and to share them with families and healthcare professionals (HPs). Despite a general appreciation of the [...] Read more.

Background: The Go Wish Game (GWG) is a card game designed to ease Advance Care Planning (ACP) discussions. It helps patients to consider their values and priorities, and to share them with families and healthcare professionals (HPs). Despite a general appreciation of the GWG, mechanisms related to its implementation have been poorly investigated. Objective: to determine optimal strategies for integration of the GWG into clinical practice and to investigate the experiences of a Palliative Care Unit (PCU) trained in the use of the GWG. Methods: We performed a descriptive qualitative study. Data were collected through a focus group (FG) and we followed the thematic analysis. The PCU’s team described their experience using the GWG focusing on 15 patients (9 oncological, 6 non-oncological) patients, managed by the PCU. Results: Our data revealed five main themes, along with their subthemes: (1) personalizing the GWG proposal; (2) the role of the caregiver; (3) organizational aspects; (4) meaning of the GWG in clinical practice, and (5) dealing with patient’s priorities. Comparison of real-life cases has led to the identification of specific facilitators and barriers that can hinder or promote the use of the GWG for personalized medicine. Conclusions: Findings suggest that certain aspects still require attention in GWG implementation, particularly regarding the training and competencies (communicative, relational, ethical) of the healthcare professionals, and the process leading to the proposal of the GWG to the patient. Full article

(This article belongs to the Special Issue New Insights into Personalized Care in Advance Care Planning)

24 pages, 2869 KiB

Open AccessSystematic Review

Comparison of Depression in Hemodialysis, Peritoneal Dialysis, and Kidney Transplant Patients: A Systematic Review with Meta-Analysis

by Gloria M. Zaragoza-Fernández, José C. De La Flor, Verónica Fernández Abreu, Elisa Iglesias Castellano, Laura Rodríguez-Barbero Requena and Rafael Fernández Castillo

J. Pers. Med. 2025, 15(5), 179; https://doi.org/10.3390/jpm15050179 - 28 Apr 2025

Viewed by 433

Abstract

Background: Depression is a common comorbidity in patients with chronic kidney disease undergoing renal replacement therapy. This meta-analysis compares depression prevalence across hemodialysis, peritoneal dialysis, and kidney transplantation, considering mean age, treatment duration, comorbidities (diabetes and hypertension), and measurement instruments. Methods: A systematic [...] Read more.

Background: Depression is a common comorbidity in patients with chronic kidney disease undergoing renal replacement therapy. This meta-analysis compares depression prevalence across hemodialysis, peritoneal dialysis, and kidney transplantation, considering mean age, treatment duration, comorbidities (diabetes and hypertension), and measurement instruments. Methods: A systematic review and meta-analysis of 16 studies involving 26,301 participants was conducted in accordance with PRISMA guidelines and registered in PROSPERO. It analyzed observational studies (2000–2024) on depression in patients receiving hemodialysis, peritoneal dialysis, or kidney transplantation. Data extraction included sample size, mean age, treatment duration, comorbidities, and measurement instruments. Random-effects models calculated the standardized mean differences and pooled prevalence estimates. Heterogeneity (Cochran’s Q, I²) and publication bias (Egger’s test) were assessed. Results: Depression prevalence was 35.56% (95% CI: 34.2–37.0%) in hemodialysis, 35.09% (95% CI: 33.5–36.7%) in peritoneal dialysis, and 25.33% (95% CI: 24.0–26.6%) in kidney transplant recipients. No significant differences were found between hemodialysis and peritoneal dialysis. Mean age, treatment duration, comorbidities, and measurement instruments were not significantly associated with depression prevalence. Conclusions: Kidney transplantation is linked to a lower depression prevalence than dialysis, while no significant differences exist between hemodialysis and peritoneal dialysis. These findings highlight the need to ensure timely transplantation access and enhance psychological support for dialysis patients. Further research should explore psychosocial factors and targeted interventions to improve mental health in this population. Full article

(This article belongs to the Special Issue Kidney Disease: From Basic Research to Clinical Practice)

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12 pages, 631 KiB

Open AccessReview

A Scoping Review of Precision Medicine in Breast Reconstruction (2011–2025)

by Zain Aryanpour, Alec S. McCranie, Jason W. Yu, Julian Winocour, Katie G. Egan, David Mathes and Christodoulos Kaoutzanis

J. Pers. Med. 2025, 15(5), 178; https://doi.org/10.3390/jpm15050178 - 28 Apr 2025

Viewed by 242

Abstract

Background: Personalization of medical care is a significant topic of interest. Precision medicine denotes customized medical treatments based on individual genetic, molecular, and/or biomarker data. We conducted a scoping review to identify studies exploring precision medicine in breast reconstruction. Objectives: (1) To map [...] Read more.

Background: Personalization of medical care is a significant topic of interest. Precision medicine denotes customized medical treatments based on individual genetic, molecular, and/or biomarker data. We conducted a scoping review to identify studies exploring precision medicine in breast reconstruction. Objectives: (1) To map the existing literature, (2) to identify key concepts, and (3) to discuss current and future clinical implications of precision medicine in breast reconstruction. Eligibility criteria: Indexed journal articles (primary research studies) relating to precision medicine in breast reconstruction written in the English language. Sources of evidence: Medline (via Pubmed), Web of Science, and the Cochrane Library. Charting methods: Data charting of selected studies was performed independently by two reviewers using Microsoft Excel. Any discrepancies in data charting were addressed through inter-reviewer discussion and/or expert review. Results: Of 321 initial records, 9 studies that were published between 2011 and 2025 were included in the final review. Eight studies focused predominantly on genomics, and one study focused predominantly on targeted therapies. Genomic-based studies were frequently implemented to evaluate patient risk and inform clinical decision-making, while targeted therapies were used to optimize reconstructive outcomes through cell-based therapies. Conclusions: There is a limited but emerging body of literature on precision medicine in breast reconstruction. Genomic data are the driving force of precision medicine in breast reconstruction, and multiple potential avenues exist to achieve translational applications in the short-term period. Future efforts should focus on translating known genomic data into real-time clinical applications and investing in precision-based research for targeted therapies and regenerative medicine in breast reconstruction. Full article

(This article belongs to the Special Issue Precision Medicine in Plastic Surgery and Reconstruction)

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33 pages, 718 KiB

Open AccessReview

Proteomics in Diagnostic Evaluation and Treatment of Breast Cancer: A Scoping Review

by Menelaos Zafrakas, Ioannis Gavalas, Panayiota Papasozomenou, Christos Emmanouilides and Maria Chatzidimitriou

J. Pers. Med. 2025, 15(5), 177; https://doi.org/10.3390/jpm15050177 - 27 Apr 2025

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Abstract

Objectives: The aim of this scoping review was to delineate the current role and possible applications of proteomics in personalized breast cancer diagnostic evaluation and treatment. Methods: A comprehensive search in PubMed/MEDLINE and Scopus/EMBASE was conducted, according to the PRISMA–ScR guidelines. Inclusion criteria: [...] Read more.

Objectives: The aim of this scoping review was to delineate the current role and possible applications of proteomics in personalized breast cancer diagnostic evaluation and treatment. Methods: A comprehensive search in PubMed/MEDLINE and Scopus/EMBASE was conducted, according to the PRISMA–ScR guidelines. Inclusion criteria: proteomic studies of specimens from breast cancer patients, clinically relevant studies and clinical studies. Exclusion criteria: in silico, in vitro and studies in animal models, review articles, case reports, case series, comments, editorials, and articles in language other than English. The study protocol was registered in the Open Science Framework. Results: In total, 1093 records were identified, 170 papers were retrieved and 140 studies were selected for data extraction. Data analysis and synthesis of evidence showed that most proteomic analyses were conducted in breast tumor specimens (n = 77), followed by blood samples (n = 48), and less frequently in other biologic material taken from breast cancer patients (n = 19). The most commonly used methods were liquid chromatography–tandem mass spectrometry (LC–MS/MS), followed by Matrix-assisted laser desorption/ionization-time of flight (MALDI–TOF), Surface-Enhanced Laser Desorption/Ionization Time-of-Flight (SELDI–TOF) and Reverse Phase Protein Arrays (RPPA). Conclusions: The present review provides a thorough map of the published literature reporting clinically relevant results yielded from proteomic studies in various biological samples from different subgroups of breast cancer patients. This analysis shows that, although proteomic methods are not currently used in everyday practice to guide clinical decision-making, nevertheless numerous proteins identified by proteomics could be used as biomarkers for personalized diagnostic evaluation and treatment of breast cancer patients. Full article

(This article belongs to the Special Issue Breast Cancer: Current Trends and Future Challenges in Evaluation and Treatment)

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13 pages, 601 KiB

Open AccessArticle

The Association of Assisted Reproductive Technology with Placental and Umbilical Abnormalities

by Antonios Siargkas, Ioannis Tsakiridis, Sonia Giouleka, Petya Chaveeva, Maria Mar Gil, Walter Plasencia, Catalina De Paco Matallana, Efstratios M. Kolibianakis and Themistoklis Dagklis

J. Pers. Med. 2025, 15(5), 176; https://doi.org/10.3390/jpm15050176 - 27 Apr 2025

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Abstract

Objective: Global utilization of assisted reproductive technology (ART) is increasing; however, it is associated with adverse perinatal outcomes. Placental and umbilical cord abnormalities contribute significantly to these negative outcomes. However, it remains unclear whether ART independently increases the risk of such abnormalities. This [...] Read more.

Objective: Global utilization of assisted reproductive technology (ART) is increasing; however, it is associated with adverse perinatal outcomes. Placental and umbilical cord abnormalities contribute significantly to these negative outcomes. However, it remains unclear whether ART independently increases the risk of such abnormalities. This study aimed to investigate the association between ART and key umbilico-placental abnormalities, after adjustment for confounders. Methods: In this retrospective cohort study, singleton pregnancies receiving routine antenatal care (January 2015 to June 2024) at the 3rd Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Greece, were analyzed. Pregnancies conceived via ART were compared to those conceived spontaneously. To investigate placental and cord anomalies, this study employed multiple logistic regression. This approach adjusted for various confounders, including maternal age, BMI, parity, smoking status, history of previous cesarean section, diabetes mellitus, and thyroid disease. Results: This study included a total of 13,854 singleton pregnancies, of which 647 were conceived via ART. ART was significantly associated with an increased risk of placenta previa (aOR 1.99, 95% CI 1.10–3.61), low-lying placenta (aOR 1.71, 95% CI 1.38–2.11), bilobate placenta (aOR 2.81, 95% CI 1.92–4.11), single umbilical artery (aOR 2.62, 95% CI 1.022–6.715), marginal (aOR 1.63, 95% CI 1.32–2.01) and velamentous cord insertion (aOR 3.13, 95% CI 1.98–4.95), and vasa previa (aOR 5.51, 95% CI 1.28–23.76). Conclusions: ART-conceived pregnancies appear to carry a higher risk for certain placental and umbilical cord abnormalities, potentially contributing to adverse perinatal outcomes. Further studies are required to investigate the pathophysiology underlying these associations. Full article

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

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22 pages, 332 KiB

Open AccessReview

Personalized Medical Approach in Gastrointestinal Surgical Oncology: Current Trends and Future Perspectives

by Dae Hoon Kim

J. Pers. Med. 2025, 15(5), 175; https://doi.org/10.3390/jpm15050175 - 27 Apr 2025

Viewed by 321

Abstract

Advances in artificial intelligence (AI), multi-omic profiling, and sophisticated imaging technologies have significantly advanced personalized medicine in gastrointestinal surgical oncology. These technological innovations enable precise patient stratification, tailored surgical strategies, and individualized therapeutic approaches, thereby significantly enhancing clinical outcomes. Despite remarkable progress, challenges [...] Read more.

Advances in artificial intelligence (AI), multi-omic profiling, and sophisticated imaging technologies have significantly advanced personalized medicine in gastrointestinal surgical oncology. These technological innovations enable precise patient stratification, tailored surgical strategies, and individualized therapeutic approaches, thereby significantly enhancing clinical outcomes. Despite remarkable progress, challenges persist, including the standardization and integration of diverse data types, ethical concerns regarding patient privacy, and rigorous clinical validation of predictive models. Addressing these challenges requires establishing international standards for data interoperability, such as Fast Healthcare Interoperability Resources, and adopting advanced security methods, such as homomorphic encryption, to facilitate secure multi-institutional data sharing. Moreover, ensuring model transparency and explainability through techniques such as explainable AI is critical for fostering trust among clinicians and patients. The successful integration of these advanced technologies necessitates strong multidisciplinary collaboration among surgeons, radiologists, geneticists, pathologists, and oncologists. Ultimately, the continued development and effective implementation of these personalized medical strategies complemented by human expertise promise a transformative shift toward patient-centered care, improving long-term outcomes for patients with gastrointestinal cancer. Full article

(This article belongs to the Special Issue Personalized Medicine in Gastrointestinal Surgical Oncology)

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J. Pers. Med., Volume 15, Issue 5 (May 2025) – 43 articles

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