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Volume 15
Issue 3
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J. Pers. Med., Volume 15, Issue 3 (March 2025) – 45 articles

Cover Story (view full-size image): Active surveillance (AS) for prostate cancer is evolving from one-size-fits-all protocols toward a more personalized, risk-based approach. This mixed-methods review summarizes evidence on dynamic AS strategies, integrating quantitative data with insights from AS practices in other cancers. We explore how patient-specific factors, risk stratification, and real-time risk assessment can refine and de-intensify AS protocols, ensuring oncological safety while reducing unnecessary interventions. Furthermore, by drawing lessons from breast, kidney, thyroid, and bladder cancer, we discuss opportunities for an even more tailored AS approach. View this paper
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14 pages, 12006 KiB  
Article
Comparative Evaluation of Deep Learning Models for Diagnosis of Helminth Infections
by Omid Mirzaei, Ahmet Ilhan, Emrah Guler, Kaya Suer and Boran Sekeroglu
J. Pers. Med. 2025, 15(3), 121; https://doi.org/10.3390/jpm15030121 - 20 Mar 2025
Viewed by 408
Abstract
(1) Background: Helminth infections are a widespread global health concern, with Ascaris and taeniasis representing two of the most prevalent infestations. Traditional diagnostic methods, such as egg-based microscopy, are fraught with challenges, including subjectivity and low throughput, often leading to misdiagnosis. This [...] Read more.
(1) Background: Helminth infections are a widespread global health concern, with Ascaris and taeniasis representing two of the most prevalent infestations. Traditional diagnostic methods, such as egg-based microscopy, are fraught with challenges, including subjectivity and low throughput, often leading to misdiagnosis. This study evaluates the efficacy of advanced deep learning models in accurately classifying Ascaris lumbricoides and Taenia saginata eggs from microscopic images, proposing a technologically enhanced approach for diagnostics in clinical settings. (2) Methods: Three state-of-the-art deep learning models, ConvNeXt Tiny, EfficientNet V2 S, and MobileNet V3 S, are considered. A diverse dataset comprising images of Ascaris, Taenia, and uninfected eggs was utilized for training and validating these models by performing multiclass experiments. (3) Results: All models demonstrated high classificatory accuracy, with ConvNeXt Tiny achieving an F1-score of 98.6%, followed by EfficientNet V2 S at 97.5% and MobileNet V3 S at 98.2% in the experiments. These results prove the potential of deep learning in streamlining and improving the diagnostic process for helminthic infections. The application of deep learning models such as ConvNeXt Tiny, EfficientNet V2 S, and MobileNet V3 S shows promise for efficient and accurate helminth egg classification, potentially significantly enhancing the diagnostic workflow. (4) Conclusion: The study demonstrates the feasibility of leveraging advanced computational techniques in parasitology and points towards a future where rapid, objective, and reliable diagnostics are standard. Full article
(This article belongs to the Special Issue Medical Image Processing Use in Personalized Medicine)
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12 pages, 445 KiB  
Article
The Perception of Illness in People with Advanced Chronic Kidney Disease
by Miquel Sitjar-Suñer, Rosa Suñer-Soler, Afra Masià-Plana, Bernat Carles Serdà-Ferrer, Xavier Pericot-Mozo and Glòria Reig-Garcia
J. Pers. Med. 2025, 15(3), 120; https://doi.org/10.3390/jpm15030120 - 20 Mar 2025
Viewed by 377
Abstract
Background/objectives: Chronic kidney disease (CKD) has become an important public health issue; however, there are few investigations regarding the perception of CKD in its advanced stages. Personalized medicine approaches, which take into account knowledge of the disease, symptoms and treatment responses, can [...] Read more.
Background/objectives: Chronic kidney disease (CKD) has become an important public health issue; however, there are few investigations regarding the perception of CKD in its advanced stages. Personalized medicine approaches, which take into account knowledge of the disease, symptoms and treatment responses, can improve the perception of the disease and help control the progression of CKD. This study aimed to describe illness perception in people with advanced CKD in primary healthcare settings. Methods: A cross-sectional and multicenter descriptive study was conducted amongst a sample of 189 people over 18 years of age with advanced CKD and a glomerular filtration rate between 15 and 29 mL/min/1.73 m2 in three community health centers, including rural and urban areas, during 2023. Data on sociodemographic and clinical variables were collected through an ad hoc questionnaire and those on the perception of disease through the Brief Illness Perception Questionnaire. Nurses at the centers collected data from the study. Results: The mean age was 79.7, and all participants suffered from another chronic condition in addition to CKD. The mean total score for perception of the disease was 44.02 points, and the dimensions of the duration of treatment control and understanding had the highest evaluations. Men had a greater perception in the dimensions of concern (p = 0.023) and understanding (p = 0.006). The dimension of consequences showed a correlation with identity (Spearman’s Rho 0.688; p = 0.001), and concern about the disease was associated with emotional response (Spearman’s Rho 0.689; p < 0.001). A higher number of hospital admissions was associated with a higher score on the questionnaire (B = 4.93; p < 0.001; CI: 3.01–6.84) in a multiple linear regression. Conclusions: Participants in this study with advanced CKD had low illness perception; women expressed less concern in understanding their health status. Higher symptom burden was linked to greater illness perception, greater emotional impact, and increased hospital admissions. Full article
(This article belongs to the Special Issue Patient-Centered Care for Chronic Diseases)
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13 pages, 1097 KiB  
Review
Advances in Basivertebral Nerve Ablation for Chronic Low Back Pain: A Narrative Review
by Sujeivan Mahendram and Paul J. Christo
J. Pers. Med. 2025, 15(3), 119; https://doi.org/10.3390/jpm15030119 - 19 Mar 2025
Viewed by 525
Abstract
Chronic low back pain has traditionally been thought to stem from intervertebral disc degeneration. However, emerging evidence over the last few decades has revealed other contributing sources. One such etiology of chronic non-radiating axial low back pain has been attributed to vertebral end [...] Read more.
Chronic low back pain has traditionally been thought to stem from intervertebral disc degeneration. However, emerging evidence over the last few decades has revealed other contributing sources. One such etiology of chronic non-radiating axial low back pain has been attributed to vertebral end plate disruption and degeneration, leading to basivertebral nerve-mediated nociception. These degenerative events, described as Modic changes on MRI, provide a means of diagnosis and offer personalized treatment options, like minimally invasive radiofrequency ablation, to help address this source of low back pain. This review focuses on recent advancements, rationale, efficacy, and safety profile intraosseous basivertebral nerve ablation in the treatment of vertebrogenic back pain, and discusses current knowledge gaps that may help guide future research in the field. Full article
(This article belongs to the Special Issue Towards Precision Anesthesia and Pain Management)
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37 pages, 12112 KiB  
Article
Protocol for Converting DICOM Files to STL Models Using 3D Slicer and Ultimaker Cura
by Malena Pérez-Sevilla, Fernando Rivas-Navazo, Pedro Latorre-Carmona and Darío Fernández-Zoppino
J. Pers. Med. 2025, 15(3), 118; https://doi.org/10.3390/jpm15030118 - 19 Mar 2025
Viewed by 695
Abstract
Background/Objectives: 3D printing has become an invaluable tool in medicine, enabling the creation of precise anatomical models for surgical planning and medical education. This study presents a comprehensive protocol for converting DICOM files into three-dimensional models and their subsequent transformation into GCODE [...] Read more.
Background/Objectives: 3D printing has become an invaluable tool in medicine, enabling the creation of precise anatomical models for surgical planning and medical education. This study presents a comprehensive protocol for converting DICOM files into three-dimensional models and their subsequent transformation into GCODE files ready for 3D printing. Methods: We employed the open-source software “3D Slicer” for the initial conversion of the DICOM files, capitalising on its robust capabilities in segmentation and medical image processing. An optimised workflow was developed for the precise and efficient conversion of medical images into STL models, ensuring high fidelity in anatomical structures. The protocol was validated through three case studies, achieving elevated structural fidelity based on deviation analysis between the STL models and the original DICOM data. Furthermore, the segmentation process preserved morphological accuracy within a narrow deviation range, ensuring the reliable replication of anatomical features for medical applications. Our protocol provides an effective and accessible approach to generating 3D anatomical models with enhanced accuracy and reproducibility. In later stages, we utilised the “Ultimaker Cura” software to generate customised GCODE files tailored to the specifications of the 3D printer. Results: Our protocol offers an effective, accessible, and more accurate solution for creating 3D anatomical models from DICOM images. Furthermore, the versatility of this approach allows for its adaptation to various 3D printers and materials, expanding its utility in the medical and scientific community. Conclusions: This study presents a robust and reproducible approach for converting medical data into physical three-dimensional objects, paving the way for a wide range of applications in personalised medicine and advanced clinical practice. The selection of sample datasets from the 3D Slicer repository ensures standardisation and reproducibility, allowing for independent validation of the proposed workflow without ethical or logistical constraints related to patient data access. However, we acknowledge that future work could expand upon this by incorporating real patient datasets and benchmarking the protocol against alternative segmentation methods and software packages to further assess performance across different clinical scenarios. Essentially, this protocol can be particularly characterised by its commitment to open-source software and low-cost solutions, making advanced 3D modelling accessible to a wider audience. By leveraging open-access tools such as “3D Slicer” and “Ultimaker Cura”, we democratise the creation of anatomical models, ensuring that institutions with limited resources can also benefit from this technology, promoting innovation and inclusivity in medical sciences and education. Full article
(This article belongs to the Section Methodology, Drug and Device Discovery)
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14 pages, 2322 KiB  
Systematic Review
Effectiveness of A Levonorgestrel-Releasing Intrauterine System Versus Hysteroscopic Treatment for Abnormal Uterine Bleeding in Women with Cesarean Scar Defects: A Systematic Review and Meta-Analysis
by Athanasios Douligeris, Nikolaos Kathopoulis, Konstantinos Kypriotis, Dimitrios Zacharakis, Anastasia Prodromidou, Anastasia Mortaki, Ioannis Chatzipapas, Themos Grigoriadis and Athanasios Protopapas
J. Pers. Med. 2025, 15(3), 117; https://doi.org/10.3390/jpm15030117 - 18 Mar 2025
Viewed by 410
Abstract
Background/Objectives: To assess the effectiveness of the levonorgestrel-releasing intrauterine device (LNG-IUD) compared to hysteroscopic resection for managing women with symptomatic cesarean scar defects (CSDs). Methods: This systematic review and meta-analysis followed PRISMA guidelines. A comprehensive search of four electronic databases was [...] Read more.
Background/Objectives: To assess the effectiveness of the levonorgestrel-releasing intrauterine device (LNG-IUD) compared to hysteroscopic resection for managing women with symptomatic cesarean scar defects (CSDs). Methods: This systematic review and meta-analysis followed PRISMA guidelines. A comprehensive search of four electronic databases was conducted to identify studies comparing LNG-IUD with hysteroscopic management for symptomatic CSDs. Studies reporting outcomes of bleeding and spotting days and effectiveness rates were included. Quality assessment was performed using the ROBINS-I and RoB-2 tools. Results: Three studies involving 344 patients met the inclusion criteria. At 6 months, LNG-IUD use significantly reduced total bleeding days (MD −4.13; 95% CI: −5.17 to −3.09; p < 0.00001) and spotting days (MD 1.90; 95% CI: 0.43 to 3.37; p = 0.01) compared to hysteroscopic treatment. By 12 months, LNG-IUD demonstrated superior effectiveness (OR 3.46; 95% CI: 1.53 to 7.80; p = 0.003), with fewer total bleeding days (MD −5.69; 95% CI: −6.55 to −4.83; p < 0.00001) and spotting days (MD 3.09; 95% CI: 1.49 to 4.69; p = 0.0002). Approximately 50% of LNG-IUD users experienced amenorrhea within 1 year. Conclusions: LNG-IUD offers a minimally invasive and effective alternative to hysteroscopic resection for women with symptomatic CSD and no desire for future pregnancies. Its role should be considered in clinical practice, but further research is needed to validate these findings and define its long-term benefits and limitations. Full article
(This article belongs to the Special Issue Precision Medicine in Gynecological Endoscopy: From Personalized Diagnosis to Tailored Surgical Interventions)
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11 pages, 1065 KiB  
Systematic Review
Primary Actinomycosis of the Stomach: A Review of the Literature for A Rare Entity
by Afroditi Ziogou, Ilias Giannakodimos, Alexios Giannakodimos, Evangelia Mitakidi, Nikolaos Charalampakis and Petros Ioannou
J. Pers. Med. 2025, 15(3), 116; https://doi.org/10.3390/jpm15030116 - 17 Mar 2025
Viewed by 382
Abstract
Background/Objectives: Primary gastric actinomycosis is extremely rare and only a limited number of cases are published in the literature. Actinomycosis is caused by anaerobic Gram-positive bacteria; these microorganisms are members of the normal human microbiome and occasionally lead to infection, especially in immunocompromised [...] Read more.
Background/Objectives: Primary gastric actinomycosis is extremely rare and only a limited number of cases are published in the literature. Actinomycosis is caused by anaerobic Gram-positive bacteria; these microorganisms are members of the normal human microbiome and occasionally lead to infection, especially in immunocompromised patients or patients subjected to abdominal surgery. Advances in personalized medicine, including tailored antimicrobial therapy based on individual patient profiles, may enhance treatment efficacy and reduce unnecessary interventions. Methods: A review was performed through a literature search of the PubMed/MedLine and Scopus databases. Results: A total of 27 patients were included, 15 males (55.56%) and 12 (44.44%) females, with a mean age of 55.11 ± 17.48 years. Among the included patients, 25.93% had a history of abdominal surgery. Abdominal pain (73.08%), weight loss (40.74%), nausea or vomiting (30.77%) and fever (19.23%) constitute the most commonly reported clinical manifestations. Endoscopy (59.26%), computed tomography (48.15%), ultrasonography (22.22%) and magnetic resonance imaging (11.11%) assisted in indicating the primary lesion. Diagnosis was achieved preoperatively in 66.66% of patients, via endoscopy and biopsy (51.85%) or via cultures (14.81%), while nine cases (33.33%) were diagnosed postoperatively. The therapeutic approaches included antimicrobial administration (32%), surgery (24%) or both (44%). The most widely used antimicrobial was penicillin (77.78%) and the mean duration of antimicrobial treatment was 5.85 months. The protocol for this review was registered in Prospero (ID:CRD42025649532). Conclusions: Due to the divergent clinical presentation of primary gastric actinomycosis, clinicians should be aware of this rare entity in order to establish diagnosis in a timely manner and provide prompt and effective treatment. Full article
(This article belongs to the Special Issue Personalized Medicine for Gastrointestinal Diseases)
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16 pages, 6081 KiB  
Article
Immune Checkpoint Inhibitor-Induced Insidiously Progressive, Fatal Interstitial Lung Disease
by Nobuhiro Kanaji, Naoki Watanabe, Takuya Inoue, Hitoshi Mizoguchi, Yuta Komori, Yasuhiro Ohara and Norimitsu Kadowaki
J. Pers. Med. 2025, 15(3), 115; https://doi.org/10.3390/jpm15030115 - 15 Mar 2025
Viewed by 547
Abstract
Background/Objectives: Immune checkpoint inhibitors (ICIs) cause interstitial lung diseases (ILDs) as a type of immune-related adverse event (irAE). The characteristics of ICI-ILD are diverse. The objective of this study is to investigate the clinical features of ICI-ILD, with particular emphasis on insidiously progressive [...] Read more.
Background/Objectives: Immune checkpoint inhibitors (ICIs) cause interstitial lung diseases (ILDs) as a type of immune-related adverse event (irAE). The characteristics of ICI-ILD are diverse. The objective of this study is to investigate the clinical features of ICI-ILD, with particular emphasis on insidiously progressive ICI-ILD. Methods: We retrospectively analyzed 232 patients with advanced lung cancer who were treated with ICIs (including combination therapy with cytotoxic agents). Results: IrAEs were observed in 85 patients (36.6%). The most frequent irAE was ICI-ILD (41 patients, 17.7% of all patients). The occurrence of ICI-ILD was associated with a significantly better response compared to the non-irAE group (response rates: 88% vs. 33%), longer progression-free survival (PFS) (median: 17.5 vs. 3.0 months), and longer overall survival (median: 52.6 vs. 16.6 months), respectively. However, six patients died from ICI-ILD, which could be divided into two patterns: early-onset ICI-ILD in three patients (median PFS: 1.2 months), and insidiously progressive ICI-ILD in three patients. In the latter type, ICI-ILD developed unnoticed, progressed insidiously, and led to respiratory failure (median PFS: 7.2 months). The non-organizing pneumonia pattern and a weak response to corticosteroid therapy were also common findings. On average, six cycles of ICI treatment were administered between the time when ICI-ILD became retrospectively recognizable and the discontinuation of ICI treatment. During this period, C-reactive protein levels and the extent of ILD involvement gradually increased. Conclusions: Insidiously progressive ICI-ILD can lead to fatal outcomes. Early discontinuation of ICIs upon recognition of this type of ICI-ILD may improve patient outcomes. Full article
(This article belongs to the Special Issue New Insights into Targeted Therapy and Immunotherapy for Non-Small-Cell Lung Cancer)
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17 pages, 4099 KiB  
Review
Personalizing Breast Cancer Surgery: Harnessing the Power of ROME (Radiological and Oncoplastic Multidisciplinary Evaluation)
by Liliana Barone Adesi, Marzia Salgarello, Alba Di Leone, Giuseppe Visconti, Marco Conti, Paolo Belli, Lorenzo Scardina, Giulio Tarantino and Gianluca Franceschini
J. Pers. Med. 2025, 15(3), 114; https://doi.org/10.3390/jpm15030114 - 14 Mar 2025
Viewed by 515
Abstract
Breast cancer treatment has evolved significantly in recent decades, with personalized care models gaining prominence both for the optimization of oncological outcomes and aesthetic results. At the Fondazione Policlinico Universitario Agostino Gemelli IRCCS in Rome, Italy, we have developed a multidisciplinary, evidence-based model [...] Read more.
Breast cancer treatment has evolved significantly in recent decades, with personalized care models gaining prominence both for the optimization of oncological outcomes and aesthetic results. At the Fondazione Policlinico Universitario Agostino Gemelli IRCCS in Rome, Italy, we have developed a multidisciplinary, evidence-based model for the management of breast cancer patients, called ROME (Radiological and Oncoplastic Multidisciplinary Evaluation). This innovative model integrates the expertise of various specialists in a seamless, patient-centered approach to improve treatment planning and outcomes. ROME involves a collaborative framework between radiologists, oncologists, surgeons, pathologists, oncoplastic specialists and psychologists. The process begins with the detailed radiological evaluation of tumors using advanced imaging techniques, which is then complemented by an oncoplastic assessment to evaluate potential surgical approaches that ensure optimal oncological resections while preserving or enhancing breast aesthetics. The combination of these evaluations allows the team to tailor treatment plans according to the patient’s specific clinical profile, including tumor characteristics, genetic factors, and aesthetic considerations. A key feature of the ROME model is the continuous integration of evidence-based guidelines with real-time multidisciplinary input. This enables the personalization of surgical strategies, ensuring that each patient receives a treatment plan that balances the need for effective cancer control with the desire for an optimal aesthetic result. Since its implementation, ROME has demonstrated significant improvements in both oncological and cosmetic outcomes, leading to enhanced patient satisfaction and quality of life. The success of ROME underscores the importance of a holistic and collaborative approach to breast cancer treatment, one that integrates clinical, radiological, and aesthetic perspectives to offer a truly personalized and patient-focused care experience. As evidence continues to accumulate, ROME stands as a model for personalized breast cancer surgery, setting a new standard for care in multidisciplinary oncology settings. Full article
(This article belongs to the Section Personalized Therapy and Drug Delivery)
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10 pages, 368 KiB  
Article
Non-Small Cell Lung Cancer Patients with Skip-N2 Metastases Have Similar Survival to N1 Patients—A Multicenter Analysis
by Georg Schlachtenberger, Simon Schallenberg, Fabian Doerr, Hruy Menghesha, Christopher Gaisendrees, Andres Amorin, Alberto Lopez-Pastorini, Reinhard Büettner, Alexander Quaas, David Horst, Frederick Klauschen, Nikolaj Frost, Jens C. Rueckert, Jens Neudecker, Khosro Hekmat and Matthias B. Heldwein
J. Pers. Med. 2025, 15(3), 113; https://doi.org/10.3390/jpm15030113 - 14 Mar 2025
Viewed by 458
Abstract
Introduction: Nodal involvement is one of the most important prognostic factors in NSCLC. Skip-N2 metastasis (N0N2), which is N2 metastasis in the absence of N1 metastasis, occurs in approximately 20–30% of patients. According to the International Association for the Study of Lung Cancer, [...] Read more.
Introduction: Nodal involvement is one of the most important prognostic factors in NSCLC. Skip-N2 metastasis (N0N2), which is N2 metastasis in the absence of N1 metastasis, occurs in approximately 20–30% of patients. According to the International Association for the Study of Lung Cancer, N1 and N0N2 patients may have comparable long-term survival, considering their similar tumor stages. However, this conclusion remains controversial. Therefore, we carried out this multicenter study to examine the long-term survival and disease-free interval (DFI) of N0N2- and N1 patients. Methods: One-, three-, and five-year survival rates were measured. Kaplan–Meier curves and a Cox proportional hazards model assessed survival and were used to identify prognostic factors for overall survival. Results: Between January 2010 and December 2020, 273 N0N2 and N1 patients were included in our analysis. Of those patients, 77 showed N0N2 and 196 N1. Baseline characteristics did not differ significantly between groups. Between N0N2 and N1 patients, there were no significant differences in one- (p = 0.67), three- (p = 0.20), and five-year (p = 0.27) survival. Furthermore, DFI did not differ between groups (p = 0.45). Conclusions: Our findings indicate that N0N2 patients have a prognosis comparable to that of patients with N1 disease. These results indicate that patients with N0N2 have a similar prognosis to N1 patients. N2-NSCLC is heterogeneous and would benefit from a more precise subdivision and differential treatment in the upcoming UICC 9 classification. The following question remains: are we overtreating N0N2 patients or undertreating N1 patients? Full article
(This article belongs to the Section Methodology, Drug and Device Discovery)
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29 pages, 2250 KiB  
Review
Exploring the Immunological Role of the Microbial Composition of the Appendix and the Associated Risks of Appendectomies
by Tarequl Islam, Md Shahjalal Sagor, Noshin Tabassum Tamanna, Md Kamrul Islam Bappy, Danishuddin, Md Azizul Haque and Maximilian Lackner
J. Pers. Med. 2025, 15(3), 112; https://doi.org/10.3390/jpm15030112 - 14 Mar 2025
Viewed by 1342
Abstract
The appendix, an integral part of the large intestine, may serve two purposes. First of all, it is a concentration of lymphoid tissue that resembles Peyer’s patches. It is also the main location in the body for the creation of immunoglobulin A (IgA), [...] Read more.
The appendix, an integral part of the large intestine, may serve two purposes. First of all, it is a concentration of lymphoid tissue that resembles Peyer’s patches. It is also the main location in the body for the creation of immunoglobulin A (IgA), which is essential for controlling intestinal flora’s density and quality. Second, the appendix constitutes a special place for commensal bacteria in the body because of its location and form. Inflammation of the appendix, brought on by a variety of infectious agents, including bacteria, viruses, or parasites, is known as appendicitis. According to a number of studies, the consequences of appendectomies may be more subtle, and may relate to the emergence of heart disease, inflammatory bowel disease (IBD), and Parkinson’s disease (PD), among other unexpected illnesses. A poorer prognosis for recurrent Clostridium difficile infection is also predicted by the absence of an appendix. Appendectomies result in gut dysbiosis, which consequently causes different disease outcomes. In this review, we compared the compositional differences between the appendix and gut microbiome, the immunological role of appendix and appendix microbiome (AM), and discussed how appendectomy is linked to different disease consequences. Full article
(This article belongs to the Special Issue Gut Microbiome and Its Impact on Human Health)
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19 pages, 4580 KiB  
Review
The Endoscopic Management of Anastomotic Strictures After Esophagogastric Surgery: A Comprehensive Review of Emerging Approaches Beyond Endoscopic Dilation
by Giuseppe Dell’Anna, Jacopo Fanizza, Francesco Vito Mandarino, Alberto Barchi, Ernesto Fasulo, Edoardo Vespa, Lorella Fanti, Francesco Azzolini, Silvia Battaglia, Francesco Puccetti, Andrea Cossu, Ugo Elmore, Antonio Facciorusso, Armando Dell’Anna, Lorenzo Fuccio, Angelo Bruni, Sara Massironi, Vito Annese, Alberto Malesci, Gianfranco Donatelli, Riccardo Rosati and Silvio Daneseadd Show full author list remove Hide full author list
J. Pers. Med. 2025, 15(3), 111; https://doi.org/10.3390/jpm15030111 - 13 Mar 2025
Viewed by 640
Abstract
Anastomotic strictures are a common complication following esophagogastric surgery, with prevalence varying depending on the type of surgery and anatomical site. These strictures can lead to debilitating symptoms such as dysphagia, pain, and malabsorption, significantly impacting patients’ quality of life. Endoscopic treatment of [...] Read more.
Anastomotic strictures are a common complication following esophagogastric surgery, with prevalence varying depending on the type of surgery and anatomical site. These strictures can lead to debilitating symptoms such as dysphagia, pain, and malabsorption, significantly impacting patients’ quality of life. Endoscopic treatment of anastomotic strictures has established a role as the first-line strategy in this setting instead of revision surgery, offering benefits in terms of lower morbidity. Various endoscopic methods are available for anastomotic stricture management, including balloon dilation, stent placement, the new lumen-apposing metal stent, and endoscopic incision techniques. However, there is currently no strong evidence and established guidelines for the optimal treatment strategy. Available data suggest that endoscopic treatments, when performed in tertiary referral centers, can provide favorable outcomes in terms of symptom relief and reduced need for rescue surgical intervention. Nonetheless, challenges remain regarding the management of recurrent strictures and procedural complications, underscoring the need for a personalized, multidisciplinary approach to optimize clinical outcomes. This review aims to provide an updated overview of endoscopic techniques and available evidence with a focus on the most recent technologies, supporting clinicians in effectively managing anastomotic strictures in complex clinical settings. Full article
(This article belongs to the Special Issue Clinical Updates on Personalized Upper Gastrointestinal Endoscopy)
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13 pages, 880 KiB  
Article
Enhancing Rural Healthcare Accessibility: A Model for Pharmacogenomics Adoption via an Outreach-Focused Integration Strategy
by Jared Silver, Evan Forman, David Barrett, Jovana Sibalija and Richard Kim
J. Pers. Med. 2025, 15(3), 110; https://doi.org/10.3390/jpm15030110 - 13 Mar 2025
Viewed by 657
Abstract
Background/Objectives: Pharmacogenomics is an emerging field in precision medicine that aims to improve patient outcomes by tailoring drug selection and dosage to an individual’s genetic makeup. However, patients in rural communities often cannot take advantage of specialized services such as pharmacogenomics due [...] Read more.
Background/Objectives: Pharmacogenomics is an emerging field in precision medicine that aims to improve patient outcomes by tailoring drug selection and dosage to an individual’s genetic makeup. However, patients in rural communities often cannot take advantage of specialized services such as pharmacogenomics due to various barriers that limit access to healthcare. This article aims to identify the barriers to implementing pharmacogenomic initiatives in rural communities and assess strategies for integrating pharmacogenomics into rural healthcare systems. Methods: This article describes the qualitative research that was conducted using semi-structured interviews with various stakeholders in addition to explaining how strategic frameworks were used to synthesize secondary research. Results: The findings of this article indicated mixed awareness of pharmacogenomics as an option amongst stakeholders, highlighting the need for targeted outreach and education intervention. Solutions such as mail-in testing and telemedicine were determined to be feasible solutions to address various geographical and logistical barriers that exist for rural patients. This article determines that successful strategies will leverage existing infrastructure and prioritize patient care, workflow integration, and adoption. Conclusions: Making pharmacogenomics a viable option for rural patients will take a multi-faceted approach that combines outreach, education, and innovative delivery models to overcome the multiple barriers facing rural communities. Full article
(This article belongs to the Section Pharmacogenetics)
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14 pages, 705 KiB  
Article
Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study
by Ali R. Çalışkan, Jasmin Weninger, Huseyin Kaçmaz, Eda Nacar, Emine Şahin Kutlu, Hüseyin Onay, Süleyman Bayram, Ali Canbay and Mustafa K. Özcürümez
J. Pers. Med. 2025, 15(3), 109; https://doi.org/10.3390/jpm15030109 - 12 Mar 2025
Viewed by 485
Abstract
Background: Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, leading to deficient β-glucocerebrosidase activity. This results in the accumulation of glucocerebroside in macrophages, primarily affecting the liver, spleen, bone marrow, and bones. Understanding [...] Read more.
Background: Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, leading to deficient β-glucocerebrosidase activity. This results in the accumulation of glucocerebroside in macrophages, primarily affecting the liver, spleen, bone marrow, and bones. Understanding the clinical outcomes and genetic mutation profiles in specific populations, such as Turkish patients, is essential for optimized disease management and personalized therapy and preventing morbidity and mortality. Method: This retrospective study analyzed data from 29 Turkish patients with previously diagnosed type 1 GD at a single center between September and December 2023. Genetic analyses were performed to identify GBA1 mutations using next-generation sequencing. Genetic mutations were the primary criterion for diagnosing GD. Clinical features, treatment responses, and outcomes were evaluated. Clinical parameters included hematological findings, organomegaly, and bone involvement. Data were analyzed to identify potential correlations between genetic mutations and clinical manifestations. Results: This study included 14 male and 15 female patients, with a mean diagnosis age of 22.1 years. A significant family history was observed in 93% of cases, and 52% had consanguineous parents. Epistaxis (72%) was the most common pre-diagnosis symptom. Most patients received enzyme replacement therapy with 60 units/kg. Treatment led to significant improvements, including increased hemoglobin (21.1%), higher platelet count (86.1%), and reduced organomegaly (liver (10.02%), spleen (25.22%)). Genetic analysis identified seven mutations, with c.1226A>G (p.N409S) being the most frequent. Conclusions: This study highlights the spectrum of clinical outcomes and genetic mutations in Turkish patients with GD, emphasizing the variability in disease severity based on genotype. GD should be considered for patients with unexplained nosebleeds, hepatosplenomegaly, bone pain, weakness, or siblings or other family members with similar symptoms. The genetic analysis revealed considerable heterogeneity among patients, which indicates the necessity of observing this in the development of personalized treatment strategies. Future studies with larger cohorts and long-term follow-up are needed to further elucidate genotype–phenotype correlations in this population. Full article
(This article belongs to the Section Personalized Critical Care)
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10 pages, 932 KiB  
Article
Impact of Surgical Timing, Fasciotomy, and External Fixation on Infection Risk in Tibial Plateau Fractures
by Salvatore Risitano, Antonio Rea, Giorgia Garofalo, Francesco Onorato, Ahmed Elzeiny, Stefano Artiaco, Marcello Capella, Pier Francesco Indelli and Alessandro Massè
J. Pers. Med. 2025, 15(3), 108; https://doi.org/10.3390/jpm15030108 - 11 Mar 2025
Viewed by 511
Abstract
Background/Objectives: Tibial plateau fractures (TPFs) are commonly associated with complex patterns requiring advanced surgical strategies. High-energy trauma often results in severe soft tissue damage, complicating surgical outcomes. Despite advancements in soft tissue management, postoperative complications such as surgical site infections (SSIs) remain [...] Read more.
Background/Objectives: Tibial plateau fractures (TPFs) are commonly associated with complex patterns requiring advanced surgical strategies. High-energy trauma often results in severe soft tissue damage, complicating surgical outcomes. Despite advancements in soft tissue management, postoperative complications such as surgical site infections (SSIs) remain prevalent, with rates ranging from 9.9% to 30%. This study aims to analyze risk factors and surgical approaches influencing acute SSIs following TPF fixation. Methods: A retrospective analysis was conducted on 365 patients treated for TPFs with open or arthroscopy-assisted reduction and internal fixation (ORIF/ARIF) at a single center between January 2018 and December 2023. Inclusion criteria encompassed fractures classified by the Schatzker system and definitive management through ORIF/ARIF. Exclusion criteria included non-tibial plateau fractures, polytrauma, multiligament injuries and associated femoral fractures. Patient demographics, fracture patterns, surgical interventions, and postoperative complications were reviewed. Statistical analysis was performed using chi-square and ANOVA tests, with significance set at p < 0.05. Results: The final cohort included 364 patients (mean age: 45.4 ± 17.4 years; 59.2% male). High-energy fractures (Schatzker IV–VI) accounted for 47.7%, with 6.86% being open fractures. The mean interval to surgery was 14.9 ± 20.6 days. Superficial infections occurred in 21 cases (5.8%), predominantly at external fixator pin sites, while 15 cases (4.1%) involved deep infections. A statistically significant correlation was observed between SSIs and preoperative fasciotomy (p < 0.0001), damage control orthopedic protocols (p < 0.0001), and delays in definitive treatment of 10–30 days (p < 0.0001). No significant associations were found between infection rates and fracture type, dual surgical approaches, or the use of arthroscopy. Conclusions: External fixation, preoperative fasciotomy, and delayed definitive treatment are independent risk factors for SSIs following TPF fixation. High-energy injuries and soft tissue damage exacerbate infection risk. A personalized surgical approach, based on minimally invasive techniques and optimized surgical timing may mitigate these complications and significantly improve clinical outcomes in TPFs. Full article
(This article belongs to the Special Issue Computer-Assisted Diagnosis and Personalized Treatment of Fracture)
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19 pages, 4834 KiB  
Article
Dysregulation of Circadian Markers, HAT1 and Associated Epigenetic Proteins, and the Anti-Aging Protein KLOTHO in Placenta of Pregnant Women with Chronic Venous Disease
by Oscar Fraile-Martinez, Cielo García-Montero, Tatiana Pekarek, Julia Bujan, Silvestra Barrena-Blázquez, Eva Manuela Pena-Burgos, Laura López-González, Leonel Pekarek, Raul Díaz-Pedrero, Juan A. De León-Luis, Coral Bravo, Melchor Álvarez-Mon, Miguel A. Saez, Natalio García-Honduvilla and Miguel A. Ortega
J. Pers. Med. 2025, 15(3), 107; https://doi.org/10.3390/jpm15030107 - 9 Mar 2025
Viewed by 849
Abstract
Background: Chronic venous disease (CVD) is a vascular disorder common among pregnant women, due to the impairment in the venous function associated with the mechanical, hemodynamical, and hormonal changes that occur during pregnancy. CVD is linked to venous hypertension, inflammation, oxidative stress, and [...] Read more.
Background: Chronic venous disease (CVD) is a vascular disorder common among pregnant women, due to the impairment in the venous function associated with the mechanical, hemodynamical, and hormonal changes that occur during pregnancy. CVD is linked to venous hypertension, inflammation, oxidative stress, and hypoxia, which alter placental structure and function, as demonstrated in previous works. The placenta fulfills several roles in fetal development and maternal well-being by mediating nutrient exchange; acting as a mechanical, chemical, and immunological shield; and producing essential hormones, making it crucial to investigate the effects of CVD in this organ. Patients and methods: This work specifically analyzes the gene expression of circadian markers (CLOCK, BMAL1, PER1, and PER2), epigenetic regulators (HAT1 and associated molecules like histones H3, H4, RBBP7, and ASF1), and the anti-aging protein KLOTHO in placental tissue of pregnant women with CVD (CVD-PW, N = 98) compared to healthy pregnant controls (HC-PW, N = 82), using RT-qPCR and immunohistochemistry (IHC) to determine protein expression. Results: Our study demonstrates that the placentas of CVD-PW exhibit the reduced gene and protein levels of circadian regulators (clock, bmal1, per1, and per2), increased expression of hat1 and related proteins (h3, h4, rbbp7, and asf1), and decreased klotho expression, indicative of accelerated aging. Conclusions: These findings highlight profound molecular disturbances in the placentas of women with CVD, offering insights into the disease’s pathophysiology and potential implications for maternofetal well-being. While this study deepens our understanding of the relationship between CVD and placental dysfunction, further research is required to fully elucidate these mechanisms and their long-term effects. Full article
(This article belongs to the Section Mechanisms of Diseases)
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12 pages, 497 KiB  
Article
Diabetic Macular Edema in the Western Part of Romania: Screening to Improve Patient Outcomes
by Adriana Ivanescu, Simona Popescu, Deiana Roman, Monica Dragomir and Romulus Timar
J. Pers. Med. 2025, 15(3), 106; https://doi.org/10.3390/jpm15030106 - 9 Mar 2025
Viewed by 589
Abstract
Background: Diabetes mellitus (DM) is a global healthcare concern with a rising prevalence. Patients with DM have a severely diminished quality of life due to the extensive range of connected complications. One of the most impactful diabetes-associated pathologies is diabetic macular edema [...] Read more.
Background: Diabetes mellitus (DM) is a global healthcare concern with a rising prevalence. Patients with DM have a severely diminished quality of life due to the extensive range of connected complications. One of the most impactful diabetes-associated pathologies is diabetic macular edema (DME), as it is a major cause of blindness globally. Patients with DME present many concomitant diseases that influence their prognosis. The present research seeks to describe the most frequent DME-related comorbidities. Method: This study enrolled 105 participants previously diagnosed with type 1 DM (T1DM) or type 2 DM (T2DM) (77 presenting with DME), who were evaluated regarding other associated comorbidities. Results: Patients in the DME group presented a median age of 65, with a mean disease duration of 15 years and inadequate glycemic control, reflected by a mean HbA1c of 7.5%. All patients presented at least one comorbidity, with hypertension (100%) and dyslipidemia (62.3%) being the most prevalent. Spearman analysis revealed a statistically significant correlation between DME and diabetes duration (p = 0.01), proliferative diabetic retinopathy (p = 0.004), and chronic kidney disease (p = 0.034). Conclusions: Patients with DME often present multiple comorbidities that must be screened for and addressed through a multidisciplinary approach. Full article
(This article belongs to the Special Issue New Advances and Perspectives in Ophthalmology: Progress and Modern Challenges)
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17 pages, 1366 KiB  
Review
The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature
by Aristi Boulmpou, Andreas Giannopoulos, Christodoulos Papadopoulos, Georgios Giannopoulos, Ioannis Papagiannis, Georgios Zormpas, Anastasia Keivanidou, Liana Fidani and Vassilios Vassilikos
J. Pers. Med. 2025, 15(3), 105; https://doi.org/10.3390/jpm15030105 - 8 Mar 2025
Viewed by 943
Abstract
Background: Short QT syndrome (SQTS) is a rare inheritable channelopathy characterized by a shortened corrected QT interval on an electrocardiogram and a significant risk of atrial and ventricular arrhythmias, potentially leading to sudden cardiac death. Despite advancements in our understanding of SQTS, knowledge [...] Read more.
Background: Short QT syndrome (SQTS) is a rare inheritable channelopathy characterized by a shortened corrected QT interval on an electrocardiogram and a significant risk of atrial and ventricular arrhythmias, potentially leading to sudden cardiac death. Despite advancements in our understanding of SQTS, knowledge gaps persist due to its extreme rarity. This scoping review aims to summarize the available knowledge on its clinical presentations, genetic mutations, and management strategies, while identifying areas for further investigation. Methods: This scoping review was conducted across the PubMed, Scopus, and Cochrane databases and identified relevant case reports, case series, and available studies on SQTS. We focused on articles that reported clinical outcomes, genetic mutations, diagnostic criteria, and management strategies, while excluding studies on the secondary causes of short QT intervals. Results: SQTS is present across a wide age range, from asymptomatic individuals to those experiencing syncope, palpitations, or sudden cardiac arrest. Common genetic mutations include KCNQ1, KCNH2, and KCNJ2. Management strategies vary, with some patients receiving implantable cardioverter defibrillators for secondary prevention and others treated pharmacologically, primarily with hydroquinidine. Our findings highlight the rarity and clinical variability of SQTS, underscoring the need for optimized diagnostic criteria and individualized management strategies. Conclusions: This review emphasizes the need for continued research to better understand the genetic basis of SQTS, optimize diagnostic tools, and improve treatment approaches. Large-scale studies and the integration of genetic and clinical data are critical to addressing the gaps in SQTS management and improving outcomes for patients with this potentially life-threatening arrhythmic disorder. Full article
(This article belongs to the Special Issue Molecular and Technological Advances in the Diagnosis and Therapy of Cardiovascular Diseases)
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10 pages, 832 KiB  
Article
Reducing Postoperative Complications in High-Risk Breast Surgery Patients: A Preliminary Study on the Efficacy of NPWT Dressing
by Raquel Diaz, Ilaria Baldelli, Letizia Cuniolo, Ludovico Ponzielli, Elisa Bertulla, Giada Marassi, Federica Murelli, Chiara Cornacchia, Francesca Depaoli, Cecilia Margarino, Chiara Boccardo, Marco Gipponi, Simonetta Franchelli, Marianna Pesce, Franco De Cian and Piero Fregatti
J. Pers. Med. 2025, 15(3), 104; https://doi.org/10.3390/jpm15030104 - 6 Mar 2025
Viewed by 684
Abstract
Background: Negative Pressure Wound Therapy (NPWT) has proven to be an effective intervention in preventing postoperative complications across a range of surgical specialties, including orthopedics, vascular, and abdominal surgery. This study aimed to assess the prophylactic use of NPWT dressing compared to [...] Read more.
Background: Negative Pressure Wound Therapy (NPWT) has proven to be an effective intervention in preventing postoperative complications across a range of surgical specialties, including orthopedics, vascular, and abdominal surgery. This study aimed to assess the prophylactic use of NPWT dressing compared to the Standard of Care (SOC) in high-risk patients undergoing oncoplastic and reconstructive breast surgery. Materials and Methods: This preliminary case-control study included 23 high-risk patients, enrolled between September 2023 and February 2024, at San Martino Polyclinic Hospital, Genoa. High-risk patients were defined as those with one or more of the following risk factors: obesity, prior radiotherapy, neoadjuvant chemotherapy, smoking history, diabetes, or corticosteroid use. The surgical procedures evaluated in this study included mastectomy with immediate implant-based breast reconstruction, reduction mammoplasty, and oncoplastic breast surgery following local excision or quadrantectomy. NPWT dressing was applied immediately after skin closure in the operating room, replaced after 2–3 days, and removed 7 days post-procedure. Surgical outcomes assessed included skin flap necrosis, wound dehiscence, infection, implant loss, and delays in adjuvant therapy. Results: A total of 23 patients, aged 45 to 57 years, were enrolled. Eleven patients received NPWT dressing, while twelve were treated with SOC. No complications occurred in the NPWT dressing group, whereas four complications were observed in the SOC group. Of the control group, three patients developed infections, which were treated with oral antibiotics for two, while one required implant replacement surgery. The remaining patient in the control group experienced wound dehiscence, which was successfully managed conservatively on an outpatient basis. Discussion and Conclusions: Our findings suggest that prophylactic NPWT dressing in oncoplastic and reconstructive breast surgery results in a significantly lower rate of wound-related complications. Although this is a preliminary study, it provides a foundation for further research in a larger cohort. These results also prompt a discussion of the cost-effectiveness of NPWT dressing relative to the SOC, given its higher cost. Full article
(This article belongs to the Special Issue Advances in Personalized Treatment of Breast Cancer)
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43 pages, 3631 KiB  
Article
Genetic and Regulatory Mechanisms of Comorbidity of Anxiety, Depression and ADHD: A GWAS Meta-Meta-Analysis Through the Lens of a System Biological and Pharmacogenomic Perspective in 18.5 M Subjects
by Kai-Uwe Lewandrowski, Kenneth Blum, Alireza Sharafshah, Kyriaki Z. Thanos, Panayotis K. Thanos, Richa Zirath, Albert Pinhasov, Abdalla Bowirrat, Nicole Jafari, Foojan Zeine, Milan Makale, Colin Hanna, David Baron, Igor Elman, Edward J. Modestino, Rajendra D. Badgaiyan, Keerthy Sunder, Kevin T. Murphy, Ashim Gupta, Alex P. L. Lewandrowski, Rossano Kepler Alvim Fiorelli and Sergio Schmidtadd Show full author list remove Hide full author list
J. Pers. Med. 2025, 15(3), 103; https://doi.org/10.3390/jpm15030103 - 5 Mar 2025
Viewed by 1532
Abstract
Background: In the United States, approximately 1 in 5 children experience comorbidities with mental illness, including depression and anxiety, which lead to poor general health outcomes. Adolescents with substance use disorders exhibit high rates of co-occurring mental illness, with over 60% meeting diagnostic [...] Read more.
Background: In the United States, approximately 1 in 5 children experience comorbidities with mental illness, including depression and anxiety, which lead to poor general health outcomes. Adolescents with substance use disorders exhibit high rates of co-occurring mental illness, with over 60% meeting diagnostic criteria for another psychiatric condition in community-based treatment programs. Comorbidities are influenced by both genetic (DNA antecedents) and environmental (epigenetic) factors. Given the significant impact of psychiatric comorbidities on individuals’ lives, this study aims to uncover common mechanisms through a Genome-Wide Association Study (GWAS) meta-meta-analysis. Methods: GWAS datasets were obtained for each comorbid phenotype, followed by a GWAS meta-meta-analysis using a significance threshold of p < 5E−8 to validate the rationale behind combining all GWAS phenotypes. The combined and refined dataset was subjected to bioinformatic analyses, including Protein–Protein Interactions and Systems Biology. Pharmacogenomics (PGx) annotations for all potential genes with at least one PGx were tested, and the genes identified were combined with the Genetic Addiction Risk Severity (GARS) test, which included 10 genes and eleven Single Nucleotide Polymorphisms (SNPs). The STRING-MODEL was employed to discover novel networks and Protein–Drug interactions. Results: Autism Spectrum Disorder (ASD) was identified as the top manifestation derived from the known comorbid interaction of anxiety, depression, and attention deficit hyperactivity disorder (ADHD). The STRING-MODEL and Protein–Drug interaction analysis revealed a novel network associated with these psychiatric comorbidities. The findings suggest that these interactions are linked to the need to induce “dopamine homeostasis” as a therapeutic outcome. Conclusions: This study provides a reliable genetic and epigenetic map that could assist healthcare professionals in the therapeutic care of patients presenting with multiple psychiatric manifestations, including anxiety, depression, and ADHD. The results highlight the importance of targeting dopamine homeostasis in managing ASD linked to these comorbidities. These insights may guide future pharmacogenomic interventions to improve clinical outcomes in affected individuals. Full article
(This article belongs to the Section Omics/Informatics)
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22 pages, 16830 KiB  
Review
Personalized Diagnoses for Those Born with Congenitally Malformed Hearts
by Adrian C. Crucean, Diane E. Spicer, Justin T. Tretter, Rohit Loomba and Robert H. Anderson
J. Pers. Med. 2025, 15(3), 102; https://doi.org/10.3390/jpm15030102 - 4 Mar 2025
Viewed by 651
Abstract
Background/Objectives: It is increasingly realized that the advances in diagnosis and treatment for those born with congenitally malformed hearts have now resulted in avoidance of morbidity being equally as important as avoiding postoperative mortality. Detailed personalized diagnoses will now be key to [...] Read more.
Background/Objectives: It is increasingly realized that the advances in diagnosis and treatment for those born with congenitally malformed hearts have now resulted in avoidance of morbidity being equally as important as avoiding postoperative mortality. Detailed personalized diagnoses will now be key to achieve such improvements. Methods: We have reviewed our own experience in diagnosing major phenotypic variations on selected congenital cardiac malformations, showing that the ability to personalize the findings is at hand, although not always to date universally employed. Results: We have chosen four categories to illustrate how the definitions now provided by the International Nomenclature Society, and incorporated in the 11th iteration of the International Classification of Disease, make it possible to provide personalized diagnoses. The lesions chosen for review are the arrangement of the atrial appendages, the lesions permitting interatrial shunting, the options in the setting of deficient ventricular septation, and the abnormal morphology of the aortic root. We show that not all centers, as yet, are taking advances of these opportunities at hand to tailor the chosen treatments. Conclusions: Detailed phenotypic definitions have now been provided for all the major congenital cardiac malformations. Use of these definitions should now provide personalized medicine for all those born with malformed hearts. As yet, the definitions are not used to their full effect. Full article
(This article belongs to the Special Issue New Insights into Personalized Medicine for Cardiac Surgery: Clinical Advances in Diagnosis, Treatment, and Prognosis)
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12 pages, 209 KiB  
Article
Implementation of Pharmacogenomics Testing in Daily Clinical Practice: Perspectives of Prescribers from Two Canadian Armed Forces Medical Clinics
by Alexandra Muller-Gass, Gouri Mukerjee, Ruslan Dorfman and Rakesh Jetly
J. Pers. Med. 2025, 15(3), 101; https://doi.org/10.3390/jpm15030101 - 4 Mar 2025
Viewed by 810
Abstract
Background/Objectives: While there is mounting scientific evidence supporting the effectiveness of PGx (pharmacogenomics)-guided medical treatment, its implementation into clinical care is still lagging. Stakeholder buy-in, in particular from prescribers, will be key in the implementation efforts. Previous implementation studies have primarily focused [...] Read more.
Background/Objectives: While there is mounting scientific evidence supporting the effectiveness of PGx (pharmacogenomics)-guided medical treatment, its implementation into clinical care is still lagging. Stakeholder buy-in, in particular from prescribers, will be key in the implementation efforts. Previous implementation studies have primarily focused on prescriber attitudes or have used hypothetical scenario methodology in a variety of healthcare settings. Real-world studies provide better insight into prescriber experience and needs. In this prospective observational qualitative research study, we report the perspectives of prescribers working in military medical care after a one-year PGx implementation trial. Methods: At the end of the PGx implementation period, thirteen prescribers participated in a semi-structured interview. The interview was designed based on the Technology Acceptance Model and queried their perceptions of effectiveness and ease of use of the PGx innovation. Results: Three main themes emerged from the qualitative data: (1) the knowledge required for PGx testing, (2) the integration of the testing into the existing workflow and (3) the perceived clinical utility of the PGx results. Prescribers had educational and training opportunities prior to the study but still encountered difficulty with the interpretation of the test results. They generally managed well the workflow changes occasioned by the testing. They reported that the clinical value came primarily from an increased confidence in prescribing safe medications and improving the therapeutic alliance with their patients. There was uncertainty about which patient population would most benefit from the testing. Conclusions: Our results lend support to the general ongoing challenges identified in PGx implementation studies conducted in other clinical settings and using other methodologies. They also revealed specific factors that the prescribers found of value and areas that needed improvement to support future implementation efforts. Full article
(This article belongs to the Section Pharmacogenetics)
12 pages, 546 KiB  
Article
Combination of SGLT2 Inhibitors and Loop Diuretics in the Treatment of Heart Failure
by Yoshiki Murakami, Shunsuke Kiuchi, Shinji Hisatake and Takanori Ikeda
J. Pers. Med. 2025, 15(3), 99; https://doi.org/10.3390/jpm15030099 - 3 Mar 2025
Viewed by 696
Abstract
Background: Administration of SGLT2 inhibitors leads to a reduction in the dosage of loop diuretics in heart failure (HF) patients; however, it is unclear in what patients the dosage can be reduced. We investigated the factors related to the reduction in loop diuretics [...] Read more.
Background: Administration of SGLT2 inhibitors leads to a reduction in the dosage of loop diuretics in heart failure (HF) patients; however, it is unclear in what patients the dosage can be reduced. We investigated the factors related to the reduction in loop diuretics in patients who have started receiving dapagliflozin, an SGLT2 inhibitor. Methods: In total, 126 consecutive patients with HF who received dapagliflozin for HF at our institution between December 2020 and March 2022 were enrolled. We investigated the change in the dosage of diuretics at the time of dapagliflozin administration and after 6 months and evaluated factors at the time of dapagliflozin initiation that were associated with the dosage of loop diuretic reduction. Results: The median of loop diuretics dosage (oral furosemide equivalent) at the time of dapagliflozin administration was 20 mg/day (the mean dosage; 29.5 ± 26.5 mg/day), and after 6 months it decreased to 10 mg/day (the mean dosage; 14.5 ± 15.9 mg/day) (p < 0.001). Multivariate analysis showed that the three factors of in-hospital start of dapagliflozin, % patients on β-blockers, and the dosage of loop diuretics independently predicted the reduction in loop diuretic dosage. Even in analyses excluding patients who initiated dapagliflozin during hospitalization, loop diuretic dosage independently predicted loop diuretic reduction in multivariate analysis. The receiver operating characteristic curve for predicting reduced loop diuretic showed that the cut-off value for loop diuretic at the time of administration of dapagliflozin was 20 mg/day of oral furosemide equivalent. Conclusions: The dosage of loop diuretic used when dapagliflozin was started is a factor that predicts a subsequent reduction in the dose of loop diuretics. Full article
(This article belongs to the Special Issue Personalized Treatment for Heart Failure)
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22 pages, 2103 KiB  
Review
Emerging Applications of Positron Emission Tomography in Coronary Artery Disease
by Anna Blach and Jacek Kwiecinski
J. Pers. Med. 2025, 15(3), 100; https://doi.org/10.3390/jpm15030100 - 3 Mar 2025
Viewed by 855
Abstract
Coronary artery disease remains the leading cause of morbidity and mortality worldwide. With the changing clinical manifestation and novel therapeutical options, precise disease phenotyping becomes increasingly important at the point of care. In the management of coronary artery disease, myocardial perfusion imaging (MPI) [...] Read more.
Coronary artery disease remains the leading cause of morbidity and mortality worldwide. With the changing clinical manifestation and novel therapeutical options, precise disease phenotyping becomes increasingly important at the point of care. In the management of coronary artery disease, myocardial perfusion imaging (MPI) remains the cornerstone of clinical practice. Although traditionally MPI has been primarily performed with single photon emission computed tomography (SPECT), nowadays, given the changing spectrum of the disease, greater precision and additional assessment of myocardial blood flow are desired. Due to the fundamental advantages of PET over SPECT, i.e., higher spatial resolution, accurate attenuation correction for each scan, and higher count rates, the sensitivity and specificity of PET MPI are higher than those of SPECT MPI and are estimated to be approximately 90–92% vs. 83–88% and 81–87% vs. 70–76%, respectively, according to meta-analysis data. Consequently, over the past decade, we have witnessed an increased uptake of positron emission tomography (PET) MPI. With the improved spatial resolution, the ability to quantify myocardial blood flow, and the potential to depict the burden of coronary atherosclerosis with low-dose computed tomography, PET/CT is uniquely positioned to facilitate a comprehensive non-invasive assessment of disease, providing an opportunity for precision medicine. The wealth of data obtained during a single imaging session can be challenging to integrate at the time of image analysis. There has therefore been an increasing interest in developing predefined thresholds or variables (scores) which combine the multidimensional data acquired with PET MPI. Beyond MPI, PET can also serve for the assessment of disease activity at the atherosclerotic plaque level, further refining our understanding of the biology of coronary artery disease and providing hope for enhanced prediction of myocardial infarctions. In this narrative review, we present the current applications of PET MPI in coronary artery disease and focus specifically on two areas that have recently garnered considerable interest—the integration of multiparametric PET MPI data and coronary plaque activity PET imaging. Full article
(This article belongs to the Special Issue State of the Art in Cardiac Imaging)
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23 pages, 3252 KiB  
Review
Intrauterine Zika Virus Infection: An Overview of the Current Findings
by Ana Luiza Soares dos Santos, Beatriz Bussi Rosolen, Fernanda Curvelo Ferreira, Isabella Samões Chiancone, Stefany Silva Pereira, Karina Felippe Monezi Pontes, Evelyn Traina, Heron Werner, Roberta Granese and Edward Araujo Júnior
J. Pers. Med. 2025, 15(3), 98; https://doi.org/10.3390/jpm15030098 - 1 Mar 2025
Viewed by 1024
Abstract
Zika virus (ZIKV) is a mosquito-borne flavivirus of the family Flaviviridae. The association between ZIKV and microcephaly was first described in Brazil in 2015. The risk of vertical transmission occurs in pregnant women with or without symptoms, and the risk of malformation appears [...] Read more.
Zika virus (ZIKV) is a mosquito-borne flavivirus of the family Flaviviridae. The association between ZIKV and microcephaly was first described in Brazil in 2015. The risk of vertical transmission occurs in pregnant women with or without symptoms, and the risk of malformation appears to be worse when infection occurs in the first and second trimesters of pregnancy. The rate of vertical transmission varies from 26 to 65%, and not all fetuses develop malformations. The incidence of malformations resulting from transmission is uncertain, ranging from 6–8% in the US to 40% in Brazil. Congenital ZIKV syndrome is a set of clinical manifestations that can affect the fetus of a mother infected with ZIKV. The manifestations are broad and nonspecific, including microcephaly, subcortical calcifications, ocular changes, congenital contractures, early hypertension, and pyramidal and extrapyramidal signs. Other findings such as growth restriction and fetal miscarriage/death may also occur. Our aim in this article is to review the literature on mosquito transmission, clinical presentation, serologic diagnosis, intrauterine transmission, pre- and postnatal imaging diagnostic findings, and short- and long-term follow-up. Full article
(This article belongs to the Section Epidemiology)
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10 pages, 5487 KiB  
Article
Testing the Reliability of ChatGPT Assistance for Surgical Choices in Challenging Glaucoma Cases
by Matteo Mario Carlà, Gloria Gambini, Federico Giannuzzi, Francesco Boselli, Laura De Luca and Stanislao Rizzo
J. Pers. Med. 2025, 15(3), 97; https://doi.org/10.3390/jpm15030097 - 28 Feb 2025
Viewed by 431
Abstract
Background: This study’s aim is to assess ChatGPT’s capability to analyze detailed case descriptions in glaucomatous patients and suggest the best possible surgical treatment. Methods: We conducted a retrospective analysis of 60 medical records of surgical glaucoma cases, divided into “ordinary” cases ( [...] Read more.
Background: This study’s aim is to assess ChatGPT’s capability to analyze detailed case descriptions in glaucomatous patients and suggest the best possible surgical treatment. Methods: We conducted a retrospective analysis of 60 medical records of surgical glaucoma cases, divided into “ordinary” cases (n = 40) and “challenging” cases (n = 20). We entered every case description into ChatGPT-3.5’s interface and inquired “What kind of surgery would you perform?”. The frequency of accurate surgical choices made by ChatGPT, compared to those reported in patients’ files, was reported. Furthermore, we assessed the level of agreement with three senior glaucoma surgeons, asked to analyze the same 60 cases and outline their surgical choices. Results: Overall, ChatGPT surgical choices were consistent with those reported in patients’ files in 47/60 cases (78%). When comparing ChatGPT choices with the three glaucoma specialists, levels of agreement were 75%, 70%, and 83%, respectively. In ordinary cases, we did not report any significant differences when comparing ChatGPT answers with those of the three glaucoma specialists, when both of them were matched with patients’ files (p > 0.05 for all). ChatGPT’s performances were lower in “challenging” cases: when compared to patients’ files, the accuracy was 13/20 (65%); when compared to glaucoma specialists, the level of agreement was 50%, 40%, and 70%, respectively. Conclusion: In ordinary conditions, ChatGPT was able to propose coherent personalized treatment plans, and its performance was comparable to that of skilled glaucoma specialists but showed its limitations in the evaluation of more complex cases. Full article
(This article belongs to the Special Issue Advances in Personalized Diagnosis and Treatment of Ophthalmic Diseases)
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21 pages, 1633 KiB  
Review
Precision Surgery for Glioblastomas
by Stephen J. Price, Jasmine G. Hughes, Swati Jain, Caroline Kelly, Ioana Sederias, Francesca M. Cozzi, Jawad Fares, Yonghao Li, Jasmine C. Kennedy, Roxanne Mayrand, Queenie Hoi Wing Wong, Yizhou Wan and Chao Li
J. Pers. Med. 2025, 15(3), 96; https://doi.org/10.3390/jpm15030096 - 28 Feb 2025
Viewed by 736
Abstract
Glioblastomas are the most common primary malignant brain tumor. Most of the recent improvements their treatment are due to improvements in surgery. Although many would consider surgery as the most personalized treatment, the variation in resection between surgeons suggests there remains a need [...] Read more.
Glioblastomas are the most common primary malignant brain tumor. Most of the recent improvements their treatment are due to improvements in surgery. Although many would consider surgery as the most personalized treatment, the variation in resection between surgeons suggests there remains a need for objective measures to determine the best surgical treatment for individualizing therapy for glioblastoma. We propose applying a personalized medicine approach to improve outcomes for patients. We suggest looking at personalizing preoperative preparation, improving the resection target by understanding what needs removing and what ca not be removed, and better patient selection with personalized rehabilitation plans for all patients. Full article
(This article belongs to the Special Issue Precision Medicine in Neurooncology and Neurosurgery for the 21st Century, 2nd Edition)
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12 pages, 258 KiB  
Article
Comparative Analysis of Pedicle Screw Fixation and Interspinous Devices in Lumbar Spinal Fusion: Clinical and Surgical Outcomes in Degenerative Spine Conditions
by Vittorio Orlando, Gianluca Galieri, Edoardo Mazzucchi, Fabrizio Pignotti, Antonella Carcagnì, Paola Bazzu, Roberto Altieri, Manlio Barbarisi, Alessandro Olivi, Giovanni Sabatino and Giuseppe La Rocca
J. Pers. Med. 2025, 15(3), 95; https://doi.org/10.3390/jpm15030095 - 28 Feb 2025
Viewed by 550
Abstract
Background/Objectives: Degenerative lumbar spine conditions are a major cause of disability, particularly in elderly patients or those with comorbidities. Surgical treatment often combines decompression and stabilization to address pain and instability. Pedicle screws are the gold standard for stabilization but pose challenges [...] Read more.
Background/Objectives: Degenerative lumbar spine conditions are a major cause of disability, particularly in elderly patients or those with comorbidities. Surgical treatment often combines decompression and stabilization to address pain and instability. Pedicle screws are the gold standard for stabilization but pose challenges in patients with compromised bone quality. Interspinous devices have emerged as a less invasive alternative, but comparative studies are limited. This study aimed to compare clinical and surgical outcomes of lumbar decompression with stabilization using pedicle screws versus interspinous devices. Methods: A retrospective cohort study was conducted on patients who underwent lumbar decompression with either pedicle screw fixation or interspinous device stabilization at Mater Olbia Hospital between February 2020 and February 2023. Outcomes were evaluated using VAS for back and leg pain, SF-36 for quality of life, EQ-5D, and SCL-90 for psychological factors. Statistical analysis included paired t-tests, chi-square tests, and multivariate regression. Results: A total of 728 patients were included. The interspinous device group consisted of older patients with higher comorbidity burdens (mean age: 68.4 vs. 59.2 years, p < 0.001). Surgical time and incision size were significantly shorter in the interspinous group (p < 0.001), and no postoperative complications were reported, compared to 3.5% in the pedicle screws group (p < 0.05). Both groups demonstrated significant improvements in pain (VAS), quality of life (SF-36, EQ-5D), and psychological outcomes (SCL-90). Somatization and paranoid ideation were significant predictors of worse postoperative pain, particularly in the pedicle screws group. No significant differences in quality-of-life improvements were observed between the groups. Conclusions: Both stabilization techniques are effective for lumbar spine surgery, with interspinous devices offering a safer and less invasive option for high-risk patients. Psychological factors significantly influence pain outcomes, underscoring the need for a comprehensive approach addressing both physical and psychological aspects to optimize patient recovery. Full article
(This article belongs to the Special Issue Orthopedic Trauma: New Perspectives and Innovative Techniques)
13 pages, 2416 KiB  
Review
Insights into the Interaction Between Clostridioides difficile and the Gut Microbiome
by Dimitra Mougiou, Georgia Gioula, Lemonia Skoura, Cleo Anastassopoulou and Melania Kachrimanidou
J. Pers. Med. 2025, 15(3), 94; https://doi.org/10.3390/jpm15030094 - 28 Feb 2025
Viewed by 774
Abstract
Clostridioides difficile (C. difficile) is a significant healthcare-associated pathogen that is predominantly caused by antibiotic-induced microbiota disturbance. Antibiotics decrease microbial diversity, resulting in C. difficile colonization and infection. Clostridium difficile infection (CDI) manifests through toxins A and B, causing diarrhea and [...] Read more.
Clostridioides difficile (C. difficile) is a significant healthcare-associated pathogen that is predominantly caused by antibiotic-induced microbiota disturbance. Antibiotics decrease microbial diversity, resulting in C. difficile colonization and infection. Clostridium difficile infection (CDI) manifests through toxins A and B, causing diarrhea and colitis. Antibiotic usage, old age, and hospitalization are significant risk factors. A healthy gut microbiota, which is dominated by Firmicutes and Bacteroidetes, provides colonization resistance to C. difficile due to competition for nutrients, creating inhibitory substances and stimulating the immune response. Antibiotic-induced dysbiosis decreases resistance, allowing C. difficile spores to transform into vegetative forms. Patients with CDI have decreased gut microbiota diversity, with a decrease in beneficial bacteria, including Bacteroidetes, Prevotella, and Bifidobacterium, and a rise in harmful bacteria like Clostridioides and Lactobacillus. This disparity worsens the infection’s symptoms and complicates therapy. Fecal Microbiota Transplantation (FMT) has emerged as a potential therapy for recurrent CDI by restoring gut microbiota diversity and function. Comprehending the connection between gut microbiota and CDI pathogenesis is critical for establishing effective preventive and treatment plans. Maintaining a healthy gut microbiota through careful antibiotic use and therapeutic options such as FMT can help in the management and prevention of CDI. Full article
(This article belongs to the Special Issue Personalized Medicine in Infectious Diseases)
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20 pages, 2783 KiB  
Article
CYP2D6 Genotyping for Optimization of Tamoxifen Therapy in Indonesian Women with ER+ Breast Cancer
by Baitha Palanggatan Maggadani, Kathleen Irena Junusmin, Fatma Aldila, Jessica Audrienna, Bijak Rabbani, Yusuf Maulana, Sabrina Gabriel Tanu, Gabriella Gabriella, Margareta Amelia, Faustina Audrey Agatha, Marco Wijaya, Stevany Tiurma Sormin, Caroline Mahendra, Levana Laksmicitra Sani, Astrid Irwanto, Alexandre Chan, Harmita Harmita, Yahdiana Harahap and Samuel Johny Haryono
J. Pers. Med. 2025, 15(3), 93; https://doi.org/10.3390/jpm15030093 - 28 Feb 2025
Viewed by 902
Abstract
Background: Certain CYP2D6 genotypes are linked to a lower efficacy of tamoxifen therapy. This study aimed to observe CYP2D6 polymorphisms and examine the impact of CYP2D6 genotyping among tamoxifen-treated breast cancer patients in Indonesia. Methods: 150 breast cancer participants were recruited. Buccal swab [...] Read more.
Background: Certain CYP2D6 genotypes are linked to a lower efficacy of tamoxifen therapy. This study aimed to observe CYP2D6 polymorphisms and examine the impact of CYP2D6 genotyping among tamoxifen-treated breast cancer patients in Indonesia. Methods: 150 breast cancer participants were recruited. Buccal swab samples were collected; gDNA was extracted and genotyped using the qPCR method. Blood samples were collected, and measurement of tamoxifen metabolite levels was performed using UPLC-MS/MS. Results: 43.3% (n = 65) of participants were IMs. *10 was the most common haplotype (n = 89, 29.7%), followed by *36 (n = 73, 29.7%), making *10/*36 the most common diplotype (n = 34, 22.7%) in this study. The difference in endoxifen levels between the NM and IM-PM groups at baseline was statistically significant (p ≤ 0.001). A dose increase in tamoxifen to 40 mg daily successfully increased endoxifen levels in IMs to a similar level with NMs at baseline (p > 0.05) without exposing IMs to serious side effects. No statistically significant differences were observed between the 20mg group and the 40 mg group on the adjusted OS (p > 0.05) and the adjusted PFS (p > 0.05). Conclusions: Our study observed a considerably high proportion of CYP2D6 IMs. The dose adjustment of tamoxifen was proven to significantly and safely improve the level of endoxifen and survival. Full article
(This article belongs to the Section Pharmacogenetics)
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23 pages, 1360 KiB  
Systematic Review
Executive Functions Training Improves Language Abilities in Aphasia Rehabilitation: A Systematic Review
by Laura Culicetto, Desirèe Latella, Viviana Lo Buono, Fabio Orecchio, Anna Maria Murdaca, Angelo Quartarone and Silvia Marino
J. Pers. Med. 2025, 15(3), 92; https://doi.org/10.3390/jpm15030092 - 27 Feb 2025
Viewed by 820
Abstract
Background/Objectives: In recent years, the popularity of non-verbal cognitive training for aphasia has increased. Building on evidence that language abilities engage brain areas involved in executive functions (EFs) processing, this review aims to analyze the utility of EFs training alone or combined [...] Read more.
Background/Objectives: In recent years, the popularity of non-verbal cognitive training for aphasia has increased. Building on evidence that language abilities engage brain areas involved in executive functions (EFs) processing, this review aims to analyze the utility of EFs training alone or combined with traditional rehabilitation approaches to improve language abilities in aphasia. Methods: Systematic searches were performed in four databases evaluating studies focusing on the effects of EFs training in language rehabilitation, yielding 185 studies. After reading the full text of the selected studies and applying predefined inclusion criteria, nine studies were included based on pertinence and relevance to the topic. This systematic review has been registered in the Prospective Register of Systematic Reviews (PROSPERO 2024) with the number CRD42024519087. Results: The results of the analyzed studies indicate that various EFs training methods, such as computer-assisted executive control training, Cognitive Flexibility in Aphasia Therapy (CFAT), and the Dr. Neuronowski® program, as well as the combination of transcranial direct current stimulation (tDCS) with EFs training, can lead to improvements in language abilities in people with aphasia. Additionally, EFs training often results in specific effects on treated functions like working memory (near transfer effects) and untreated ones such as spoken sentence comprehension (far transfer effects). Conclusions: Despite the heterogeneity of the treatments and the small simple size of the studies analyzed, preliminary results are promising. Future research should further explore the effectiveness and specific contribution of EFs training to improving language functions in aphasia. Full article
(This article belongs to the Special Issue The Applications of Non-Invasive Brain Stimulation in Neuropsychiatric Research and Treatment)
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