Journal of Personalized Medicine

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

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)

► Show Figures

Figure 1

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

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)

► Show Figures

Figure 1

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

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)

► Show Figures

Figure 1

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

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)

13 pages, 1543 KiB

Open AccessReview

Personalized Surgical Approach for Nonunion of the Second Metatarsal Fracture and Post-Traumatic Metatarsalgia: A Case Report and Literature Review

by Roberto Bevoni, Elena Artioli, Marco Di Ponte, Silvio Caravelli and Massimiliano Mosca

J. Pers. Med. 2025, 15(5), 174; https://doi.org/10.3390/jpm15050174 - 27 Apr 2025

Abstract

Nonunion of the second metatarsal presents a significant clinical challenge, often leading to pain, functional impairment, and deformity. Various treatment strategies have been described in the literature, tailored to the patient’s specific characteristics. To provide a comprehensive overview of the available therapeutic options, [...] Read more.

Nonunion of the second metatarsal presents a significant clinical challenge, often leading to pain, functional impairment, and deformity. Various treatment strategies have been described in the literature, tailored to the patient’s specific characteristics. To provide a comprehensive overview of the available therapeutic options, a literature review was conducted. In this context, this article aims to present an innovative and personalized surgical technique for patients with nonunion and an altered metatarsal formula following a proximal shaft fracture of the second metatarsal. This technique enables the simultaneous consolidation of the nonunion and restoration of metatarsal alignment, with favorable clinical, functional, and radiological outcomes observed over a three-year follow-up period. Full article

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

► Show Figures

Figure 1

11 pages, 1035 KiB

Open AccessArticle

Short-Term Changes in Tear Film Stability and Tear Volume Following the Application of Various DED Management Options in a Healthy Young Population

by Belén Sabucedo-Villamarin, Jacobo Garcia-Queiruga, Laura Cacabelos-Torres, Maria J. Giraldez, Eva Yebra-Pimentel and Hugo Pena-Verdeal

J. Pers. Med. 2025, 15(5), 173; https://doi.org/10.3390/jpm15050173 - 27 Apr 2025

Abstract

Background: To determine short-term changes in tear film volume and stability after various treatments for dry eye disease in healthy participants. Methods: 36 healthy participants aged from 18 to 35 years were recruited for a single-session examination and randomly assigned to one of [...] Read more.

Background: To determine short-term changes in tear film volume and stability after various treatments for dry eye disease in healthy participants. Methods: 36 healthy participants aged from 18 to 35 years were recruited for a single-session examination and randomly assigned to one of three treatment groups (1:1:1 treatment, 1:1 eye): Group 1 (artificial tears ‘Comfort Drops’), Group 2 (eyelid wipes ‘Systane Lid Wipes’), and Group 3 (ocular bath ‘Acuaiss’). Tear Meniscus Height (TMH) was assessed at baseline, 2, 5, 10, 15, and 20 min, and Non-Invasive Break-Up Time (NIBUT) at baseline, 2, 10, and 20 min, all using the OCULUS Keratograph 5M by one examiner. Results: Of the initially recruited participants, 35 were analyzed; one was excluded for reflex tearing. Group 1 (n = 12) showed a significant TMH increase at 2 min compared to 10 and 20 min (Friedman, p = 0.004; Bonferroni, p ≤ 0.028). Group 3 (n = 12) showed a significant increase at 2 and 5 min compared to baseline and decrease at 10 min against 2 and 5 min (Friedman, p < 0.001; Bonferroni, p ≤ 0.034). Group 2 (n = 11) showed no significant changes over time (Friedman, p = 0.108). NIBUT showed no significant differences at any time-point in any group (Friedman, p ≥ 0.231). Basal TMH differed between groups (ANOVA, p = 0.048), but post hoc analysis found no significance (Bonferroni, all p ≥ 0.088). No significant differences in TMH at other time-points (Kruskal–Wallis/ANOVA, p ≥ 0.265) or in NIBUT between groups (Kruskal–Wallis/ANOVA, p = 0.108) were found. Conclusions: In healthy participants, artificial tears and ocular baths temporarily increase TMH, while eyelid wipes do not. Neither has an immediate impact on NIBUT. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology—2nd Edition)

► Show Figures

Figure 1

37 pages, 2066 KiB

Open AccessReview

Redefining Non-Motor Symptoms in Parkinson’s Disease

by Laura Peña-Zelayeta, Karen M. Delgado-Minjares, Marcos M. Villegas-Rojas, Karen León-Arcia, Alberto Santiago-Balmaseda, Jesús Andrade-Guerrero, Isaac Pérez-Segura, Emmanuel Ortega-Robles, Luis O. Soto-Rojas and Oscar Arias-Carrión

J. Pers. Med. 2025, 15(5), 172; https://doi.org/10.3390/jpm15050172 - 26 Apr 2025

Abstract

Parkinson’s disease involves widespread neurodegeneration that extends far beyond the basal ganglia, giving rise to a diverse range of non-motor symptoms that frequently emerge before motor onset. These include autonomic dysfunction, cognitive decline, neuropsychiatric disturbances, sleep-related disorders, and sensory deficits. Here, we synthesize [...] Read more.

Parkinson’s disease involves widespread neurodegeneration that extends far beyond the basal ganglia, giving rise to a diverse range of non-motor symptoms that frequently emerge before motor onset. These include autonomic dysfunction, cognitive decline, neuropsychiatric disturbances, sleep-related disorders, and sensory deficits. Here, we synthesize current evidence on the anatomical, neurochemical, and network-level mechanisms that drive these symptoms, and we examine how they shape disease progression and clinical heterogeneity. We highlight the limitations of dopamine-centric models and advocate for a framework that treats non-motor symptoms as the disorder’s primary, mechanistically distinct features. We also discuss how emerging technologies—such as multi-omic profiling, artificial intelligence, and network neuroscience—enable earlier identification, stratification of non-motor phenotypes, and the development of precision-based therapeutic strategies. Recognizing non-motor symptoms as central to Parkinson’s disease redefines how the disorder should be diagnosed, studied, and treated. Full article

(This article belongs to the Special Issue Neurodegenerative Diseases: Molecular Pathology and Personalized Treatment)

► Show Figures

Figure 1

15 pages, 976 KiB

Open AccessArticle

Oxidative Stress Biomarkers as Preclinical Markers of Mild Cognitive Impairment: The Impact of Age and Sex

by Stavroula Ioannidou, Magda Tsolaki, Argyrios Ginoudis, Androniki Tamvakis, Anthoula Tsolaki, Kali Makedou and Evgenia Lymperaki

J. Pers. Med. 2025, 15(5), 171; https://doi.org/10.3390/jpm15050171 - 26 Apr 2025

Abstract

Background: Reactive oxygen species (ROS) are involved in the pathophysiology of neurodegeneration and cognitive decline, indicating the potential use of oxidative stress biomarkers for early diagnosis. Mild cognitive impairment (MCI) is defined as a cognitive decline beyond normal aging, without significant impact on [...] Read more.

Background: Reactive oxygen species (ROS) are involved in the pathophysiology of neurodegeneration and cognitive decline, indicating the potential use of oxidative stress biomarkers for early diagnosis. Mild cognitive impairment (MCI) is defined as a cognitive decline beyond normal aging, without significant impact on daily functioning, and is considered an important stage of early detection of neurodegeneration. This study aimed to investigate serum and cerebrospinal fluid (CSF) levels of oxidative stress biomarkers, total ROS and malondialdehyde (MDA) in patients with MCI to evaluate their utility in the early diagnosis of Alzheimer’s disease (AD). Levels of oxidative stress biomarkers were also assessed according to age and sex, as well as their correlation with the established CSF biomarkers, including amyloid-beta (Aβ40, Aβ42 and Aβ42/Aβ40 ratio), phosphorylated tau protein (p-tau) and total tau (t-tau). Methods: A total of 114 adults were divided into three groups: MCI (A−) patients with a normal CSF Aβ42/Aβ40 ratio (n = 38), MCI (A+) patients with an abnormal Aβ42/Aβ40 ratio (n = 38) and healthy cognitive function individuals with a normal Aβ42/Aβ40 ratio (n = 38). Established CSF biomarkers were conducted using an automated immunochemical method, while total ROS levels were measured by fluorometry and MDA levels were determined by competitive inhibition enzyme immunoassay. Results: A statistically significant difference was observed in CSF MDA levels (p < 0.05) and serum ROS levels (p < 0.05) between the study groups. Sex analysis revealed significantly higher levels of CSF MDA levels in the MCI (A+) males’ group (p < 0.05). In terms of age categorization, serum MDA levels were markedly higher in the MCI (A+) group of older patients (p < 0.01). Conclusions: These findings highlight the importance of individualized approaches, including investigation of oxidative stress biomarkers profile to prevent and manage individuals in the early stages of MCI, considering demographic factors. Full article

(This article belongs to the Special Issue Oxidative Stress and Antioxidant Therapy in Diseases)

► Show Figures

Figure 1

10 pages, 1773 KiB

Open AccessArticle

Clinical and Surgical Insights into Zuska Disease: A Retrospective Analysis

by Letizia Cuniolo, Raquel Diaz, Francesca Pitto, Federica Murelli, Chiara Cornacchia, Francesca Depaoli, Marco Gipponi, Cecilia Margarino, Chiara Boccardo, Simonetta Franchelli, Marianna Pesce, Franco De Cian and Piero Fregatti

J. Pers. Med. 2025, 15(5), 170; https://doi.org/10.3390/jpm15050170 - 25 Apr 2025

Abstract

Background/Objectives: Zuska disease is a rare inflammatory condition of the mammary gland, characterized by recurrent non-puerperal abscesses in the periareolar region, often complicated by fistula formation. It predominantly affects women who smoke, particularly perimenopausal women. This study aims to investigate the clinical features, [...] Read more.

Background/Objectives: Zuska disease is a rare inflammatory condition of the mammary gland, characterized by recurrent non-puerperal abscesses in the periareolar region, often complicated by fistula formation. It predominantly affects women who smoke, particularly perimenopausal women. This study aims to investigate the clinical features, treatment outcomes, and recurrence rates of Zuska disease in a cohort of patients. Methods: We conducted a retrospective analysis of 19 patients diagnosed with Zuska disease and treated at the Breast Surgery Clinic of San Martino Policlinic Hospital between January 2021 and June 2024. Data were collected on demographics, clinical presentation, imaging findings, surgical interventions, intraoperative cultures, and postoperative outcomes. The types of surgeries performed, antibiotic therapy regimens, and histological findings were recorded. Results: The mean age of the patients was 43.8 years. The most common presentation was a painful breast mass without fistula formation (12 patients), signs of a past abscess with negative preoperative ultrasound findings (five patients), and abscesses with fistulas (two patients). Intraoperative cultures revealed a range of bacterial species. Recurrence occurred in five patients (26%), and reoperation was required in three cases. All patients were free of symptoms at follow-up, with an average recurrence time of 13.6 months. Conclusions: Zuska disease presents significant treatment challenges due to its recurrent nature. While surgical interventions, such as abscess drainage and ductal excision, are effective, recurrence remains common, particularly in patients with risk factors like smoking. A personalized therapeutic approach, tailored to each patient’s clinical profile, is essential to improving long-term outcomes. Early diagnosis, timely surgical management, and lifestyle modifications play a crucial role in reducing recurrence. Future studies should focus on optimizing treatment protocols and developing individualized strategies for managing comorbidities. Full article

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

► Show Figures

Figure 1

12 pages, 12885 KiB

Open AccessArticle

The Prognostic Impact of the Tumor Immune Microenvironment in Synovial Sarcoma: An Immunohistochemical Analysis Using Digital Pathology and Conventional Interpretation

by Emilio Medina-Ceballos, Francisco Giner, Isidro Machado, Begoña Heras-Morán, Mónica Espino, Samuel Navarro and Antonio Llombart-Bosch

J. Pers. Med. 2025, 15(5), 169; https://doi.org/10.3390/jpm15050169 - 25 Apr 2025

Abstract

Background and Objectives: Innate and adaptive immune responses serve a crucial role in neoplasms. The interaction of immune cells with the neoplastic tissue influences tumor behavior, resulting in either pro-tumorigenic or anti-tumorigenic effects. However, the prognostic significance of the tumor immune microenvironment (TIME) [...] Read more.

Background and Objectives: Innate and adaptive immune responses serve a crucial role in neoplasms. The interaction of immune cells with the neoplastic tissue influences tumor behavior, resulting in either pro-tumorigenic or anti-tumorigenic effects. However, the prognostic significance of the tumor immune microenvironment (TIME) in synovial sarcoma (SS) remains poorly studied. This study aimed to analyze the TIME of SS to determine its impact on the prognosis by examining the intratumoral lymphocytic and macrophagic infiltrate and its potential correlation with survival and recurrence. Methods: We conducted a retrospective observational study of 49 fusion-confirmed SS cases collected from two different institutions. We obtained clinical and follow-up data, and SSs were histologically classified according to WHO criteria. Immunohistochemical analysis, including of CD163, CD68, CD3, CD8, and CD20, was conducted in tissue microarrays using an analog scale. We examined the whole-slide tissue for the 23 cases with sufficient material available and then assessed the positive area by scanning the slides and analyzing the images using QuPath (0.4.4, Belfast, Northern Ireland) to calculate the positive area in an immune hotspot. We correlated the expression of these markers with clinical outcomes. A log-rank test and Kaplan–Meyer curves were used as appropriate (significance: p ≤ 0.05). Results: The most frequent morphological subtype was monophasic (59.6%), followed by biphasic (26.9%) and undifferentiated (7%). The mean disease specific survival (DSS) was 55.3 months, with a median of 33 months. The median overall survival (OS) was 50 months (range: 2–336 months). Both evaluation methods showed a good correlation for all antibodies, with Chi-square values of p < 0.05. All cases showed variable amounts of CD163-positive macrophages. The cases that showed a higher density of CD163-positive macrophages in whole-slide images subjected to digital analysis demonstrated an improved OS and DSS on Kaplan–Meier curves. Cases with lower CD8 and CD3 positivity showed a tendency toward faster progression and a slightly worse prognosis. Conclusions: The tumor immune microenvironment in sarcomas is a complex system that requires further investigation to fully understand its impact on tumorigenesis and patient clinical outcomes. Our results demonstrate that a higher amount of intratumoral CD163-positive macrophage infiltrate is associated with an increased OS and DSS. Our findings show that digital pathology is more precise than subjective quantitative analysis. Full article

(This article belongs to the Special Issue Molecular Pathology in Cancer Research)

► Show Figures

Figure 1

19 pages, 1235 KiB

Open AccessArticle

Validation of Binocular Vision and Ocular Surface Assessment Tools in Digital Eye Strain Syndrome: The DESIROUS Study

by Maria João Barata, Pedro Aguiar, Andrzej Grzybowski, Carla Lança and André Moreira-Rosário

J. Pers. Med. 2025, 15(5), 168; https://doi.org/10.3390/jpm15050168 - 25 Apr 2025

Abstract

Background: To understand if binocular vision disorders are associated with Digital Eye Strain Syndrome (DESS), a study protocol is needed to ensure consistency across observational studies. This study aims to test the feasibility of a protocol to assess DESS, screen time, binocular [...] Read more.

Background: To understand if binocular vision disorders are associated with Digital Eye Strain Syndrome (DESS), a study protocol is needed to ensure consistency across observational studies. This study aims to test the feasibility of a protocol to assess DESS, screen time, binocular vision, and dry eye. Methods: DESIROUS is an observational cross-sectional study among Polytechnic students at the Lisbon School of Health Technology, Portugal. The protocol includes three questionnaires (Computer Vision Syndrome Questionnaire [CVS-Q], Convergence Insufficiency Symptom Survey [CISS], and Dry Eye Questionnaire version 5 [DEQ-5]), an assessment of visual acuity and binocular vision (cover test for near and distance, stereopsis, near point convergence (NPC), near point accommodation (NPA), accommodative facility, vergence), and the ocular surface break-up tear (BUT) test. The questionnaires were validated using Cronbach’s alpha. Interobserver variability for BUT was assessed using Cohen’s Kappa, Intraclass Correlation Coefficient (ICC), and Bland–Altman analysis involving three observers (A, B, and C), compared against an expert as the gold standard. Results: A total of 18 students were included in the validation phase (mean age: 21.50 ± 0.62 years; females: 77.8%). The internal consistency of the CVS-Q (α = 0.773) and the CISS (α = 0.756) was considered good, while the DEQ-5 showed a reasonable internal consistency (α = 0.594). Observer A had the highest agreement with the gold standard (Cohen’s Kappa = 0.710 and p < 0.001; ICC = 0.924, p < 0.001). Conclusions: We provide a protocol to assess binocular vision and the ocular surface, with an emphasis on objective measures while integrating other assessment approaches. Further studies are necessary to validate this protocol, potentially incorporating new measures to enhance its validity across different populations. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology—2nd Edition)

► Show Figures

Graphical abstract

15 pages, 557 KiB

Open AccessArticle

Semi-Supervised Learning for Predicting Multiple Sclerosis

by Sotiris Kotsiantis, Georgia Melagraki, Vassilios Verykios, Aikaterini Sakagianni and John Matsoukas

J. Pers. Med. 2025, 15(5), 167; https://doi.org/10.3390/jpm15050167 - 24 Apr 2025

Abstract

Background: Multiple Sclerosis (MS) is a chronic autoimmune disease of the central nervous system with a propensity to inflict severe neurological disability. Accurate and early prediction of MS progression is extremely crucial for its management and treatment. Methods: In this paper, [...] Read more.

Background: Multiple Sclerosis (MS) is a chronic autoimmune disease of the central nervous system with a propensity to inflict severe neurological disability. Accurate and early prediction of MS progression is extremely crucial for its management and treatment. Methods: In this paper, we compare a number of self-labeled semi-supervised learning methods used to predict MS from labeled and unlabeled medical data. Specifically, we compare the performance of Self-Training, SETRED, Co-Training, Co-Training by Committee, Democratic Co-Learning, RASCO, RelRASCO, CoForest, and TriTraining in different labeled ratios. The data contain clinical, imaging, and demographic features, allowing for a detailed comparison of each method’s predictive ability. Results and Conclusions: The experimental results demonstrate that several self-labeling semi-supervised learning (SSL) algorithms perform competitively in the task of Multiple Sclerosis (MS) prediction, even when trained on as little as 30–40% of the labeled data. Notably, Co-Training by Committee, CoForest, and TriTraining consistently deliver high performance across all metrics (accuracy, F1-score, and MCC). Full article

(This article belongs to the Special Issue Novel Applications of Artificial Intelligence in Personalized Medicine)

► Show Figures

Graphical abstract

20 pages, 679 KiB

Open AccessReview

Beyond Biomarkers: Machine Learning-Driven Multiomics for Personalized Medicine in Gastric Cancer

by Dongheng Ma, Canfeng Fan, Tomoya Sano, Kyoka Kawabata, Hinano Nishikubo, Daiki Imanishi, Takashi Sakuma, Koji Maruo, Yurie Yamamoto, Tasuku Matsuoka and Masakazu Yashiro

J. Pers. Med. 2025, 15(5), 166; https://doi.org/10.3390/jpm15050166 - 24 Apr 2025

Abstract

Gastric cancer (GC) remains one of the leading causes of cancer-related mortality worldwide, with most cases diagnosed at advanced stages. Traditional biomarkers provide only partial insights into GC’s heterogeneity. Recent advances in machine learning (ML)-driven multiomics technologies, including genomics, epigenomics, transcriptomics, proteomics, metabolomics, [...] Read more.

Gastric cancer (GC) remains one of the leading causes of cancer-related mortality worldwide, with most cases diagnosed at advanced stages. Traditional biomarkers provide only partial insights into GC’s heterogeneity. Recent advances in machine learning (ML)-driven multiomics technologies, including genomics, epigenomics, transcriptomics, proteomics, metabolomics, pathomics, and radiomics, have facilitated a deeper understanding of GC by integrating molecular and imaging data. In this review, we summarize the current landscape of ML-based multiomics integration for GC, highlighting its role in precision diagnosis, prognosis prediction, and biomarker discovery for achieving personalized medicine. Full article

(This article belongs to the Special Issue The Intersection of Multi-Omics Data and Machine Learning in Medicine)

► Show Figures

Figure 1

12 pages, 901 KiB

Open AccessArticle

Is Neonatal Viremia a Possible Predictor of the Timing of Maternal Infection in Asymptomatic Congenital Cytomegalovirus Infection? A Retrospective Study

by Fabio Natale, Giovanni Boscarino, Giuseppina Liuzzi, Fabrizia Bonci, Giuseppe Maria Albanese, Raffaella Cellitti, Antonella Giancotti, Francesco Franco, Barbara Caravale, Rosaria Turchetta, Ombretta Turriziani, Maria Giulia Conti and Gianluca Terrin

J. Pers. Med. 2025, 15(5), 165; https://doi.org/10.3390/jpm15050165 - 24 Apr 2025

Abstract

Background: Asymptomatic congenital cytomegalovirus (acCMV) infections represent 85–90% of all congenital CMV infection. The incidence of late-onset sequelae in these cases significantly contribute to the burden of CMV disease. The timing of maternal infection (TMI) has been identified as the main predictor of [...] Read more.

Background: Asymptomatic congenital cytomegalovirus (acCMV) infections represent 85–90% of all congenital CMV infection. The incidence of late-onset sequelae in these cases significantly contribute to the burden of CMV disease. The timing of maternal infection (TMI) has been identified as the main predictor of late-onset sequelae in acCMV infants, and follow-up programs in Europe are currently calibrated according to the TMI. Our aim was to evaluate neonatal viremia as a possible predictor of the TMI in acCMV infections. Methods: Plasma viral loads (PVLs) were assessed in the first month of life in a population of acCMV-infected newborns delivered by women who suffer a primary CMV infection during pregnancy. TMI was assigned to a trimester of pregnancy according to the maternal serological screening. PVLs were evaluated in relation to the TMI and gestational age (GA) at birth. Results: One hundred and ten newborns were, respectively, assigned to preconceptional (6.4%), 1st (27.3%), 2nd (38.2%), and 3rd (28.2%) trimester infections. Median neonatal PVLs values were significantly different between groups (p < 0.001). First-trimester infections exhibited significantly higher PVLs when compared with third-trimester ones (p < 0.001). Overall, PVLs showed an inverse correlation with GA at birth (p = 0.003). Conclusions: Median neonatal PVLs are significantly higher in 1st trimester infections if compared with 3rd trimester ones, but a wide overlap between PVL values prevent their possible use as a predictor of the TMI. In our population, a significant inverse relationship, mainly dependent on 1st and 2nd trimester infections, is demonstrated between PVLs and GA. Overall, fetal viremia is already decreasing weeks before the term of pregnancy. Full article

(This article belongs to the Section Epidemiology)

► Show Figures

Figure 1

12 pages, 1116 KiB

Open AccessArticle

Correlation Between Smell Recovery and Nasal Polyp Score in Patients Treated with Dupilumab: A Real-Life Retrospective, Observational, Monocentric Study

by Giovanna Stilo, Giuliano Messina, Carmelo Lo Faro, Sara Ruta, Silvia Frangipane, Diana Mariut, Giorgia Giunta, Maria Elvira Distefano, Andrea Guglielmo Zappalà, Antonino Maniaci, Alberto Bianchi and Ignazio La Mantia

J. Pers. Med. 2025, 15(5), 164; https://doi.org/10.3390/jpm15050164 - 24 Apr 2025

Abstract

Background: Olfactory recovery plays an important role in improving the quality of life in patients with chronic rhinosinusitis with nasal polyposis (CRSwNP), and Dupilumab therapy shows promising results. The Nasal Polyp Score (NPS), Visual Analog Scale (VAS) for olfactory disorders (ODs), and [...] Read more.

Background: Olfactory recovery plays an important role in improving the quality of life in patients with chronic rhinosinusitis with nasal polyposis (CRSwNP), and Dupilumab therapy shows promising results. The Nasal Polyp Score (NPS), Visual Analog Scale (VAS) for olfactory disorders (ODs), and the Sniffin’ Sticks 16-item identification test (SS-I) are three of the main indices of efficacy in CRSwNP treatment. Although mechanical obstruction appears to be a major cause of olfactory disorders in this condition, the three indices can often vary with different trends. Aim: The aim is to assess whether there is a correlation between the sense of smell recovery and the volumetric reduction in polyps and to assess how the reduction in NPS affects the improvement in olfactory symptoms. Methods: An observational monocentric retrospective cohort study was conducted on a sample of 50 patients, enrolled in treatment with Dupilumab for 12 months at the ENT Unit of Rodolico Hospital. We investigated the relationship between NPS changes and olfactory recovery using the Sniffin’ Stick 16-item identification test and the VAS for ODs at baseline and follow-up endpoints (1-, 3-, 6-, 9-, and 12-month assessments). Results: During the follow-up, according to the data in the literature, the patients showed a faster improvement in terms of SS-I and VAS for ODs than expressed in terms of NPS variation. Conclusions: This study shows that, in patients treated with Dupilumab, there is no strong correlation between the reduction in NPS and the recovery of the sense of smell evaluated by an improvement in the SS-I and VAS for ODs in the 12 months of follow-up, suggesting that, in patients with CRSwNP, the improvement in olfactory symptoms following treatment with Dupilumab is mainly related to its anti-inflammatory effects and not to the reduction in mechanical obstruction caused by nasal polyps. Full article

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

► Show Figures

Figure 1

16 pages, 2285 KiB

Open AccessArticle

Apolipoprotein B and Glycemic Dysregulation: New Predictors of Type 2 Diabetes in High-Cardiovascular-Risk Populations

by Makhabbat Bekbossynova, Tatyana Ivanova-Razumova, Aknur Kali, Aliya Sailybayeva, Sadyk Khamitov, Gulnur Daniyarova, Kamila Akzholova and Timur Saliev

J. Pers. Med. 2025, 15(5), 163; https://doi.org/10.3390/jpm15050163 - 23 Apr 2025

Abstract

Background: Apolipoprotein B (ApoB), a key component of atherogenic lipoproteins, has been increasingly implicated in cardiometabolic disorders beyond dyslipidemia. However, its role in glycemic dysregulation remains unclear. This study aimed to investigate the association between ApoB levels and glycemic parameters, including fasting glucose, [...] Read more.

Background: Apolipoprotein B (ApoB), a key component of atherogenic lipoproteins, has been increasingly implicated in cardiometabolic disorders beyond dyslipidemia. However, its role in glycemic dysregulation remains unclear. This study aimed to investigate the association between ApoB levels and glycemic parameters, including fasting glucose, insulin resistance, and glycated hemoglobin (HbA1c), in individuals without diagnosed diabetes. Methods: This study was conducted at the National Research Cardiac Surgery Center (Kazakhstan) over the period between 2023 and 2024 as a cross-sectional analysis. Adults aged ≥ 20 years without diagnosed diabetes and with complete data on their ApoB and glycemic markers were included. Associations between ApoB and fasting plasma glucose (FPG), HbA1c, and HOMA-IR were assessed using multivariable linear and logistic regression models adjusted for demographic, lifestyle, and metabolic covariates. Results: Higher ApoB levels were significantly associated with increased fasting glucose (β = 2.07 mg/dL per 1-SD increase in ApoB, p < 0.001), higher HbA1c (β = 0.06%, p < 0.001), and elevated HOMA-IR (β = 0.54, p < 0.001). Participants in the highest ApoB quartile had 53% higher odds of prediabetes (adjusted OR = 1.53; 95% CI: 1.22–1.91; p < 0.001) compared to the lowest quartile. These associations remained significant after adjusting for BMI, lipid levels, and other confounders. Conclusions: Elevated ApoB is independently associated with adverse glycemic profiles in nondiabetic individuals, suggesting its potential role in early glucose metabolism disturbances. Full article

(This article belongs to the Special Issue Molecular and Technological Advances in the Diagnosis and Therapy of Cardiovascular Diseases)

► Show Figures

Figure 1

12 pages, 2955 KiB

Open AccessCase Report

Primary Pleural Lymphoma in an Immune-Competent Patient: A Diagnostic and Therapeutic Challenge

by Carlos Silva Paredes, Juan Lauretta, Marien Semprun, Diego Rivera-Porras, María Elena Viloria and Valmore Bermúdez

J. Pers. Med. 2025, 15(5), 162; https://doi.org/10.3390/jpm15050162 - 23 Apr 2025

Abstract

Background: Primary pleural lymphoma is a rare disease posing diagnostic and therapeutic challenges. Case presentation: We present a 65-year-old woman with dyspnoea, cough, and asthenia, with no significant past medical history. Chest X-ray and computed tomography showed extensive right pleural effusion. Video-assisted thoracoscopy [...] Read more.

Background: Primary pleural lymphoma is a rare disease posing diagnostic and therapeutic challenges. Case presentation: We present a 65-year-old woman with dyspnoea, cough, and asthenia, with no significant past medical history. Chest X-ray and computed tomography showed extensive right pleural effusion. Video-assisted thoracoscopy demonstrated multiple pleural nodules, while pleural fluid analysis revealed a lymphocytic exudate, and finally, a primary pleural lymphoma diagnosis was confirmed by immunohistochemistry analysis in pleural nodules biopsy. Discussion: In this regard, eight cycles of chemotherapy with cyclophosphamide, doxorubicin, vincristine, dexamethasone, and rituximab were indicated, and after one year of follow-up, complete clinical and radiological remission was observed. Conlusions: We conclude that video-assisted thoracoscopy with an appropriate histopathological examination remains the gold standard for diagnosis, while R-CHOP chemotherapy plus rituximab may represent a highly effective therapeutic choice. Full article

(This article belongs to the Special Issue Innovations in Cancer Immunology: Personalized Therapeutic Approaches)

► Show Figures

Figure 1

17 pages, 889 KiB

Open AccessArticle

Patient Experience with Intranasal Esketamine in Treatment-Resistant Depression: Insights from a Multicentric Italian Study (REAL-ESKperience)

by Marco Di Nicola, Maria Pepe, Giacomo d’Andrea, Ilaria Marcelli, Mauro Pettorruso, Ileana Andriola, Stefano Barlati, Matteo Carminati, Carlo Ignazio Cattaneo, Massimo Clerici, Domenico De Berardis, Sergio De Filippis, Bernardo Dell’Osso, Giorgio Di Lorenzo, Giuseppe Maina, Mirko Manchia, Matteo Marcatili, Vassilis Martiadis, Cinzia Niolu, Antonino Petralia, Gianluca Rosso, Gianluca Serafini, Maria Salvina Signorelli, Tommaso Vannucchi, Matteo Vismara, Raffaella Zanardi, Antonio Vita, Gabriele Sani, Giovanni Martinotti and REAL-ESKperience Study Group Show full author list Hide full author list

J. Pers. Med. 2025, 15(4), 161; https://doi.org/10.3390/jpm15040161 - 21 Apr 2025

Abstract

Background. Treatment-resistant depression (TRD) is a prevalent, high-burden disorder. Esketamine nasal spray (ESK-NS) has been approved for, T.R.D.; and efficacy has been observed in both clinical trials and real-world studies. However, observations integrating patients’ perspective on this treatment are limited. This multicentric [...] Read more.

Background. Treatment-resistant depression (TRD) is a prevalent, high-burden disorder. Esketamine nasal spray (ESK-NS) has been approved for, T.R.D.; and efficacy has been observed in both clinical trials and real-world studies. However, observations integrating patients’ perspective on this treatment are limited. This multicentric Italian study explored experiences with ESK-NS in TRD patients, focusing on perceived therapeutic effects and overall satisfaction. Methods. A self-report survey was administered to 236 outpatients with TRD (55.1% females, 54.1 ± 14.1 years) treated with ESK-NS for at least three consecutive months within standard clinical care. Based on satisfaction levels, participants were classified as “unsatisfied” (10.2%), “partially satisfied” (19.1%), “satisfied” (44.4%), or “very satisfied” (26.3%), and compared for sociodemographic, clinical characteristics, and feedback on perceived benefits. Artificial intelligence (OpenAI) served to categorize responses to an open-ended question. Results. Enhanced quality of life was reported by 88.4% of participants. Significant differences emerged in earliest self-perceived benefits, most relevant effects, and impact on global functioning across groups. Specifically, “very satisfied” patients described the following: early improvements in depressed mood, suicidal thoughts, and restlessness; decreased suicidal thoughts among the most significant effects; and functional gains across all domains. OpenAI identified experiences of personal growth and rediscovery and a desire for tailored settings and approaches as recurring topics. Conclusions. Most patients reported a positive perception of ESK-NS treatment. The most satisfied participants highlighted significant benefits to depressed mood, suicidal thoughts, and overall functioning. Patient-reported experiences offer insights into different psychopathological dimensions, including functional outcomes and quality of life. Integrating these perspectives into clinical practice might assist treatment personalization, improving patients’ adherence and satisfaction. Full article

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

► Show Figures

Figure 1

13 pages, 1544 KiB

Open AccessArticle

Multimodal Performance of GPT-4 in Complex Ophthalmology Cases

by David Mikhail, Daniel Milad, Fares Antaki, Jason Milad, Andrew Farah, Thomas Khairy, Jonathan El-Khoury, Kenan Bachour, Andrei-Alexandru Szigiato, Taylor Nayman, Guillaume A. Mullie and Renaud Duval

J. Pers. Med. 2025, 15(4), 160; https://doi.org/10.3390/jpm15040160 - 21 Apr 2025

Abstract

Objectives: The integration of multimodal capabilities into GPT-4 represents a transformative leap for artificial intelligence in ophthalmology, yet its utility in scenarios requiring advanced reasoning remains underexplored. This study evaluates GPT-4’s multimodal performance on open-ended diagnostic and next-step reasoning tasks in complex ophthalmology [...] Read more.

Objectives: The integration of multimodal capabilities into GPT-4 represents a transformative leap for artificial intelligence in ophthalmology, yet its utility in scenarios requiring advanced reasoning remains underexplored. This study evaluates GPT-4’s multimodal performance on open-ended diagnostic and next-step reasoning tasks in complex ophthalmology cases, comparing it against human expertise. Methods: GPT-4 was assessed across three study arms: (1) text-based case details with figure descriptions, (2) cases with text and accompanying ophthalmic figures, and (3) cases with figures only (no figure descriptions). We compared GPT-4’s diagnostic and next-step accuracy across arms and benchmarked its performance against three board-certified ophthalmologists. Results: GPT-4 achieved 38.4% (95% CI [33.9%, 43.1%]) diagnostic accuracy and 57.8% (95% CI [52.8%, 62.2%]) next-step accuracy when prompted with figures without descriptions. Diagnostic accuracy declined significantly compared to text-only prompts (p = 0.007), though the next-step performance was similar (p = 0.140). Adding figure descriptions restored diagnostic accuracy (49.3%) to near parity with text-only prompts (p = 0.684). Using figures without descriptions, GPT-4’s diagnostic accuracy was comparable to two ophthalmologists (p = 0.30, p = 0.41) but fell short of the highest-performing ophthalmologist (p = 0.0004). For next-step accuracy, GPT-4 was similar to one ophthalmologist (p = 0.22) but underperformed relative to the other two (p = 0.0015, p = 0.0017). Conclusions: GPT-4’s diagnostic performance diminishes when relying solely on ophthalmic images without textual context, highlighting limitations in its current multimodal capabilities. Despite this, GPT-4 demonstrated comparable performance to at least one ophthalmologist on both diagnostic and next-step reasoning tasks, emphasizing its potential as an assistive tool. Future research should refine multimodal prompts and explore iterative or sequential prompting strategies to optimize AI-driven interpretation of complex ophthalmic datasets. Full article

(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology—2nd Edition)

► Show Figures

Figure 1

Journal Description

Journal of Personalized Medicine

Latest Articles

Journal Menu

Journal Browser

Highly Accessed Articles

Latest Books

E-Mail Alert

News

Topics

Conferences

Special Issues

Further Information

Guidelines

MDPI Initiatives

Follow MDPI