Journal of Personalized Medicine

22 pages, 1343 KB

Open AccessArticle

Risk-Guided Personalized Care to Prevent Bronchopulmonary Dysplasia: A Real-World Implementation Study

by Avram R. Shack, Tapas Kulkarni, Alyssa Hawley, Jessy Jagpal, Maninder Janda, Stephanie Glegg, Uthaya Kumaran Kanagaraj, Michael Castaldo, Julia K. Charlton, Jessie van Dyk, Emily Kieran, Souvik Mitra, Horacio Osiovich, Deepak Manhas, Kanekal S. Gautham and Sandesh Shivananda

J. Pers. Med. 2026, 16(6), 303; https://doi.org/10.3390/jpm16060303 - 3 Jun 2026

Abstract

Background/Objectives: Bronchopulmonary dysplasia (BPD) remains a major morbidity among extremely premature infants, with variability in the application of evidence-based interventions between and within neonatal intensive care units (NICUs). We evaluated a multi-component, risk-guided personalized implementation strategy for BPD prevention in a real-world setting. [...] Read more.

Background/Objectives: Bronchopulmonary dysplasia (BPD) remains a major morbidity among extremely premature infants, with variability in the application of evidence-based interventions between and within neonatal intensive care units (NICUs). We evaluated a multi-component, risk-guided personalized implementation strategy for BPD prevention in a real-world setting. Methods: We conducted a prospective observational study of infants <29 weeks’ gestation at birth admitted to a quaternary NICU. The intervention combined risk stratification and structured longitudinal care planning rounds (LCPRs) that included standardized documentation, multidisciplinary facilitation, and associated continuous quality improvement strategies. Implementation outcomes were assessed using the reach, effectiveness, adoption, implementation, and maintenance (RE-AIM) framework. Secondary outcomes included care processes, provider-reported measures, and exploratory clinical outcomes. Results: Over six months, 41 infants were included. Risk stratification was consistently applied and all fifteen high-risk infants received LCPR, demonstrating targeted reach. Multidisciplinary participation was broad, with implementation fidelity reflected by consistent screening, structured documentation, and timely care plan execution. Practice standardization was observed, including consistent corticosteroid use (100%), earlier initiation of systemic postnatal steroids (median 16 days), and selective adjunctive therapy use. Providers reported improved teamwork, care coordination, and confidence. Rates of BPD or mortality were comparable between higher-risk infants receiving LCPR and lower-risk infants, despite greater illness severity in the LCPR group. Respiratory severity scores showed a downward trend after implementation, though this did not reach statistical significance (p = 0.07). Strategy use continued beyond the study period indicating early sustainability. Conclusions: A multi-component, risk-guided implementation strategy can be effectively integrated into routine NICU practice, improving care processes while maintaining clinical outcomes in high-risk infants compared with lower-risk infants. Full article

(This article belongs to the Special Issue Precision Care in Pediatric and Neonatal Intensive Care)

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10 pages, 11749 KB

Open AccessArticle

Defining Potential Neurovascular Risk Zones in Superficial Plantar-Medial Release: An Anatomical Study

by Elisabeth M. Mandler, Zehra Düzgün, Johannes M. Mittendorfer, Jakob R. Altmann and Lena Hirtler

J. Pers. Med. 2026, 16(6), 302; https://doi.org/10.3390/jpm16060302 - 3 Jun 2026

Abstract

Background: The superficial plantar-medial release (S-PMR) refers to a group of surgical procedures involving the release of the plantar aponeurosis and adjacent medial plantar soft tissues that are used in selected cases of plantar fasciitis and cavovarus foot deformity. The procedure aims to [...] Read more.

Background: The superficial plantar-medial release (S-PMR) refers to a group of surgical procedures involving the release of the plantar aponeurosis and adjacent medial plantar soft tissues that are used in selected cases of plantar fasciitis and cavovarus foot deformity. The procedure aims to address pain and contracture of the plantar aponeurosis and intrinsic foot muscles, which may contribute to pathological foot alignment and gait instability. Due to the close proximity of highly variable neurovascular structures in the plantar region, precise anatomical knowledge and a patient-specific, personalized approach are essential to reduce the risk of iatrogenic injury during surgery. This study defined procedure-specific anatomical “low-risk” and “high-risk” zones. Methods: From the initial forty-two included feet, one specimen was excluded due to insufficient tissue quality, leaving forty-one specimens for analysis. The plantar aponeurosis, origins of the abductor hallucis muscle and regional neurovascular structures were analyzed. Distances between key landmarks were measured. Results: Abductor hallucis origins I and IV were present in all specimens, while origins II and III showed variable presence. Subdivision of muscle origin I was observed and was associated with the course of the medial calcaneal nerve. The medial calcaneal nerve demonstrated the closest proximity to origin I (3.2 mm) whereas both the medial and lateral plantar nerves showed close proximity to origin II (3 mm and 5.3 mm). Conclusion: Significant interindividual variability exists in the plantar region, highlighting the need for a personalized, anatomy-based approach for patients considered for surgical intervention. Anatomical “high-risk” zones were identified between origin I and the medial calcaneal nerve and near origin II by the bifurcation of the tibial nerve and posterior tibial artery. Anatomical “low-risk” zones were defined as dorsal regions at the calcaneus between origin I and the tibial neurovascular bundle, as well as medial areas near the malleolus. Full article

(This article belongs to the Special Issue Surgical Innovation and Advancement in Limb Extremities)

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20 pages, 2019 KB

Open AccessReview

Diagnostic Accuracy of Artificial Intelligence in Laryngeal Disorders: An Integrative Review

by Samantha Mairesse, Antonino Maniaci, Giovanni Briganti and Jerome R. Lechien

J. Pers. Med. 2026, 16(6), 301; https://doi.org/10.3390/jpm16060301 - 1 Jun 2026

Abstract

Background/Objectives: Laryngeal disorders are among the most prevalent conditions in otolaryngology, yet they remain challenging to diagnose without specialized expertise. Artificial intelligence (AI) systems leveraging machine learning (ML) and deep learning (DL) have demonstrated promising performance for the automatic detection and classification [...] Read more.

Background/Objectives: Laryngeal disorders are among the most prevalent conditions in otolaryngology, yet they remain challenging to diagnose without specialized expertise. Artificial intelligence (AI) systems leveraging machine learning (ML) and deep learning (DL) have demonstrated promising performance for the automatic detection and classification of voice disorders and laryngeal lesions. Methods: This review synthesizes findings from 88 studies published between 2015 and 2025 on AI-based laryngeal disorder detection, considering physioacoustic mechanisms, databases and acquisition protocols, AI architectures and validation strategies, and diagnostic performance. Results: The current literature supports high internal accuracies for binary healthy versus pathological detection (88–99%); meanwhile, performance decreases for higher-level tasks such as pathophysiological category classification and identification, particularly under external validation. From a clinical perspective, clinicians do not infer specific diagnoses from isolated acoustic parameters such as percent jitter or shimmer. Instead, they rely on how these perturbation patterns dynamically evolve during connected speech, where alterations guide perceptual differentiation between underlying disorders. Recurrent sources of bias include dependence on a limited number of historical vowel-based databases, class and demographic imbalance, and limited ecological validity of recording protocols. Additional concerns involve the predominant use of internal cross-validation and insufficient reproducibility or code sharing. Conclusions: Drawing on the literature, an integrative three-level clinical recognition framework is proposed, delineating realistic use cases for AI as a decision-support tool rather than an autonomous diagnostic system. Key priorities for future personalized medicine and research are also identified, including diversified multi-center datasets, standardized methodological reporting, rigorous external validation, and compliance with regulatory and ethical requirements for medical AI deployment. Full article

(This article belongs to the Special Issue Personalized Medicine in Otolaryngology: New Challenges and Future Perspectives)

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10 pages, 863 KB

Open AccessArticle

GDF-15: Can It Be Used as a Biomarker in Acute Cerebrovascular Incidents?

by Areti Kourti, Eirini Keskilidou, Alexandra Skoura, Paraskevi Karalazou, Katerina Thisiadou and Kali Makedou

J. Pers. Med. 2026, 16(6), 300; https://doi.org/10.3390/jpm16060300 - 1 Jun 2026

Abstract

Background/Objectives: Growth differentiation factor-15 (GDF-15) is a protein that belongs to the transforming growth factor beta superfamily and has been found elevated in cases of organ injury such as liver, kidney, heart, and lung, as well as cardiovascular diseases and cancer. Soluble urokinase [...] Read more.

Background/Objectives: Growth differentiation factor-15 (GDF-15) is a protein that belongs to the transforming growth factor beta superfamily and has been found elevated in cases of organ injury such as liver, kidney, heart, and lung, as well as cardiovascular diseases and cancer. Soluble urokinase plasminogen activator receptor (suPAR) is a protein which is expressed mainly on immune cells and endothelial and smooth muscle cells, and is a marker of severity and intensity of inflammation in acute and chronic diseases. The aim of the present study was to compare GDF-15 serum levels between patients with acute cerebrovascular incidents and healthy controls and to investigate the possible correlation of GDF-15 serum levels and inflammatory markers, such as serum C-reactive protein (CRP) and plasma suPAR, in the above-mentioned groups. Methods: This is a retrospective study. Thirty-one patients were included in the study, with a mean age ± SD of 67 ± 13 years, compared to 18 age-matched healthy controls. Results: In the patient group a statistically significant positive correlation of serum levels of GDF15 values with suPAR and CRP emerged (rs = 0.516, p = 0.003) and (rs = 0.409, p = 0.022), respectively, and no significant correlation was found in the group of controls (rs = 0.271, p = 0.277) and (rs = 0.423, p = 0.080), respectively. Conclusions: These findings support the role of inflammation as a key underlying mechanism in acute cerebrovascular injury and suggest that GDF-15 may serve as a valuable adjunct biomarker for assessing disease severity and inflammatory burden. Full article

(This article belongs to the Section Disease Biomarkers)

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24 pages, 2774 KB

Open AccessReview

Epigenetics, Oxidative Stress, and the Microbiome in Endometriosis: Toward an Integrated Mechanistic Framework for Precision Medicine

by Nektaria Zagorianakou, Stylianos Makrydimas, Efthalia Moustakli, Emmanouil D. Oikonomou, Ioannis Mitrogiannis, Eleni Sintou and George Makrydimas

J. Pers. Med. 2026, 16(6), 299; https://doi.org/10.3390/jpm16060299 - 1 Jun 2026

Abstract

Endometriosis (EM) is a chronic, estrogen-dependent inflammatory disorder affecting approximately 6–10% of women of reproductive age in the general population and remains a major cause of chronic pelvic pain and infertility. High recurrence rates and enduring symptoms despite current treatments underscore the need [...] Read more.

Endometriosis (EM) is a chronic, estrogen-dependent inflammatory disorder affecting approximately 6–10% of women of reproductive age in the general population and remains a major cause of chronic pelvic pain and infertility. High recurrence rates and enduring symptoms despite current treatments underscore the need for a more thorough understanding of its intricate biology. There is growing evidence that the interaction among oxidative stress (OS), microbiome dysbiosis, and epigenetic dysregulation contributes to immunological activation, hormonal imbalance, and the persistence of ectopic lesions. Important disease mechanisms, such as progesterone resistance, inflammatory signaling, and aberrant cellular proliferation, are influenced by epigenetic changes, which include aberrant DNA methylation, histone modifications, and dysregulated non-coding RNAs. Simultaneously, high levels of reactive oxygen species (ROS) reinforce lesion survival and chronic inflammation by promoting angiogenesis, fibrosis, and tissue damage. Changes in the microbiome also affect immunological responses, oxidative balance, estrogen metabolism, and epigenetic control, indicating the existence of interrelated pathogenic loops. This narrative review presents an integrated mechanistic framework for endometriosis, summarizing the available data that connect these pathways. Furthermore, the growing implications of non-invasive biomarkers and precision medicine techniques highlight the potential for improved diagnosis, disease classification, and targeted treatment approaches. Full article

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

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10 pages, 1306 KB

Open AccessArticle

Clinical Utility of an Ex Vivo Functional Test in Personalized Cancer Treatment

by Vered Bar, Adi Zundelevich, Nancy Gavert, Sara Aharon, Bassima Ibrahim, Anna Kosenko, Guy Neev, Ronen Viner, Ravid Straussman, Raanan Berger and Seth J. Salpeter

J. Pers. Med. 2026, 16(6), 298; https://doi.org/10.3390/jpm16060298 - 31 May 2026

Abstract

Background/Objectives: Providing optimized and accurate treatment to cancer patients remains a major challenge in oncology care. The emergence of precision medicine tools to match the correct therapy to the patient has significantly advanced treatment modalities in the last few years. While genomics has [...] Read more.

Background/Objectives: Providing optimized and accurate treatment to cancer patients remains a major challenge in oncology care. The emergence of precision medicine tools to match the correct therapy to the patient has significantly advanced treatment modalities in the last few years. While genomics has been shown to be critical in selecting targeted therapies for a specific somatic mutation, the overall clinical benefit of broad genomic sequencing has been found lacking. Here, we evaluate the utility of our previously clinically validated ex vivo functional assay across different treatment scenarios, demonstrating its ability to transform predicted non-responders into predicted responders, rule out ineffective treatments, provide multiple treatment options, and validate physician choices. Methods: The evaluation was performed on a post-market surveillance study analyzing 312 patients, from which 278 patients had successful test reports (an 89.1% test success rate), with clinical outcomes available from 45 of those patients. Results: We show that in the group of patients with clinical response data, the tests yield a PPV of 91.18% and NPV of 90.91% with clinical utility impacting physician decision in 51.1% of cases. Further analysis of the entire cohort showed the potential of clinical utility to reach up to 59.3% on a large group of patients. Conclusions: The accurate prediction of patient response using the test suggests the potential for the platform to improve patient treatment in clinical practice by reducing ineffective drug use and optimizing personalized patient drug regiments. Full article

(This article belongs to the Special Issue Cancer Biomarker and Molecular Oncology)

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18 pages, 308 KB

Open AccessArticle

Toward Personalized Medicine: The Utility of Enthesis and Joint Ultrasound Examination in Defining the Phenotype of Patients with Acute Anterior Uveitis

by Giorgia Citriniti, Filippo Crescentini, Niccolò Possemato, Nicolo Girolimetto, Alessandra Rai, Elena Bolletta, Pietro Gentile, Luca De Simone, Fabrizio Gozzi, Chantal Adani, Maria Grazia Orlando, Luca Cimino, Carlo Salvarani and Pierluigi Macchioni

J. Pers. Med. 2026, 16(6), 297; https://doi.org/10.3390/jpm16060297 - 31 May 2026

Abstract

Background/Objectives: Patients with acute anterior uveitis (AAU) have a high prevalence of occult spondyloarthropathy (SpA). Only one previous study investigated ultrasonographic (US) changes at peripheral entheses and joints in patients with acute anterior uveitis (AAU) and no study has used these data [...] Read more.

Background/Objectives: Patients with acute anterior uveitis (AAU) have a high prevalence of occult spondyloarthropathy (SpA). Only one previous study investigated ultrasonographic (US) changes at peripheral entheses and joints in patients with acute anterior uveitis (AAU) and no study has used these data in recognizing unknown SpA as defined by ASAS criteria. No previous study compared non-granulomatous (NGAU) with granulomatous uveitis (GAU) for these US features. The objective of this study was to investigate the prevalence of US enthesis and joint abnormalities in a consecutive series of GAU and NGAU patients and to use these data in recognizing unknown SpA as defined by ASAS criteria. Methods: A total of 152 consecutive patients diagnosed with AAU [103 NGAU (42 B27−, 61 B27+) and 49 GAU] from the Immunology Eye Unit (AUSL-IRCCS Reggio Emilia, Italy) were enrolled in this study. Six peripheral entheses as well as knee and ankle joints were bilaterally evaluated by US according to standard methods. The presence of any elementary lesion, structural damage and active enthesitis, according to OMERACT definitions, was recorded. ASAS classification criteria of SpA were integrated with the US data of active enthesitis and joint synovitis in defining the presence of enthesitis and arthritis. Results: NGAU patients had a higher prevalence of entheseal erosions (11.9% vs. 9%, P0 0.009), of enthesis exhibiting a PD signal (29.7% vs. 12.2%, p = 0.025) and of active enthesitis (23% vs. 8.2%, p = 0.026) compared with GAU group. Unknown SpA as defined by ASAS criteria was recognized in 29 patients by clinical and MR/Rx examination of sacroiliac joints and in 13 additional patients with the use of US data. Conclusions: Acute entheseal lesions and erosions are associated with NGAU, without apparent influence of HLA-B27 positivity. US examination helps to recognize previously unknown SpA and to define the disease phenotype of patients, moving toward more personalized treatment. Full article

(This article belongs to the Special Issue Current Trends and Advances in Spondyloarthritis)

16 pages, 273 KB

Open AccessCommunication

Personalizing Approaches in International Projects Engaging Individuals with Vulnerabilities: The Lessons Learned for a Person-Centered Research

by Stefania Chiappinotto, Chiara Moreal, Aysun Bayram, Nevenka Kregar Velikonja, Aysel Özsaban, Montserrat Solà-Pola, Alba Roselló-Novella, Kinga Zdunek, Beata Dobrowolska and Alvisa Palese

J. Pers. Med. 2026, 16(6), 296; https://doi.org/10.3390/jpm16060296 - 31 May 2026

Abstract

Background: The involvement of people living in situations of vulnerability has long been a central ethical issue in research, particularly in contexts marked by power asymmetries, limited access to resources, or restricted decisional autonomy. Although international ethical frameworks offer increasing guidance on protecting [...] Read more.

Background: The involvement of people living in situations of vulnerability has long been a central ethical issue in research, particularly in contexts marked by power asymmetries, limited access to resources, or restricted decisional autonomy. Although international ethical frameworks offer increasing guidance on protecting vulnerable participants, applying these principles in everyday research practice remains challenging, especially in qualitative and multi-country studies. This communication draws on the experience of the European Protecting You & Others project, an Erasmus+ initiative conducted across five countries. Methods: During the project design and implementation, the research team engaged in ongoing reflexive work to examine the ethical, methodological, and practical challenges encountered when defining vulnerability, involving participants living in situations of vulnerability, and adapting research activities and educational interventions to different specific needs. Reflexive notes and collective team discussions were used to identify recurrent challenges and the strategies adopted to address them. Results: Key challenges included (a) the difficulty of choosing an inclusive yet operational definition of vulnerability; (b) participants’ self-perceptions and tensions between externally assigned vulnerability; (c) risks of stigmatization associated with categorization; the use of respectful and context-appropriate language; and (d) the adoption of a shared international framework adapted to educational content across countries. Overall, vulnerability emerged as a dynamic and context-dependent condition that requires research designs, methodologies and interventions to remain open, flexible, and responsive throughout the study process. Conclusions: Studies involving people living in situations of vulnerability, particularly in international and multi-country contexts, should not rely solely on predefined classifications or standardized safeguards. Instead, adaptive procedures are needed to recognize how needs, barriers, resources, and forms of participation vary across individuals and contexts. Such openness may support more person-centered approaches to engagement, communication, and intervention adaptation, while preserving ethical consistency and methodological rigor across countries. Full article

(This article belongs to the Special Issue Bioethics in Personalized Medicine and Precision Medicine)

10 pages, 2939 KB

Open AccessArticle

Simultaneous Risk-Reducing Mastectomy and Salpingo-Oophorectomy in Patients with BRCA1 and BRCA2 Pathogenic Variants: A Single-Center Retrospective Cohort Study

by Raquel Diaz, Federica Murelli, Franco Alessandri, Maria Grazia Centurioni, Fabio Barra, Letizia Cuniolo, Rebecca Allievi, Abdallah Saad, Chiara Cornacchia, Francesca Depaoli, Cecilia Margarino, Ludovico Ponzielli, Elisa Bertulla, Chiara Boccardo, Ilaria Baldelli, Maria Stella Leone, Michaela Adami, Simonetta Franchelli, Marianna Pesce, Lucia Trevisan and Piero Fregatti Show full author list Hide full author list

J. Pers. Med. 2026, 16(6), 295; https://doi.org/10.3390/jpm16060295 - 30 May 2026

Abstract

Background: Women carrying BRCA1 and BRCA2 pathogenic variants face a substantially increased lifetime risk of breast and ovarian cancer. Risk-reducing bilateral mastectomy and salpingo-oophorectomy are well-established strategies to lower this risk. Traditionally, these procedures are performed in separate surgical sessions; however, a [...] Read more.

Background: Women carrying BRCA1 and BRCA2 pathogenic variants face a substantially increased lifetime risk of breast and ovarian cancer. Risk-reducing bilateral mastectomy and salpingo-oophorectomy are well-established strategies to lower this risk. Traditionally, these procedures are performed in separate surgical sessions; however, a simultaneous approach may reduce the overall treatment burden. Evidence regarding the safety and feasibility of combined procedures remains limited. Methods: We conducted a retrospective observational study of BRCA1 and BRCA2 pathogenic variant carriers who underwent risk-reducing or therapeutic breast surgery at the Breast Unit of Policlinico San Martino Hospital (Genova, Italy) between January 2013 and March 2025. Patients were divided into two groups according to surgical strategy: a simultaneous procedure group undergoing risk-reducing mastectomy with immediate breast reconstruction and concurrent salpingo-oophorectomy in a single operative session, and a staged procedure group undergoing the same interventions in separate surgeries. Demographic, surgical, and postoperative variables were collected and analyzed descriptively. Results: A total of 124 BRCA1 and BRCA2 pathogenic variant carriers were included, with 73 patients undergoing the simultaneous approach and 51 undergoing staged procedures. The mean age was similar between the Simultaneous and Staged Procedure Groups Descriptively, similar patterns were observed across the two groups in terms of age distribution, postoperative outcomes, and length of hospital stay (mean 4.56 days). Minor complications such as seroma or delayed wound healing showed similar patterns across both groups, with no apparent increase in major complications in the simultaneous surgery group. Patients undergoing the simultaneous approach required fewer surgical sessions and were exposed to general anesthesia only once. Conclusions: Simultaneous risk-reducing mastectomy with immediate reconstruction and salpingo-oophorectomy appears to be a safe and feasible strategy for selected BRCA1 and BRCA2 pathogenic variant carriers. This integrated surgical approach may reduce the overall surgical burden, with descriptively similar perioperative outcome patterns. Full article

(This article belongs to the Section Personalized Preventive Medicine)

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11 pages, 2086 KB

Open AccessArticle

Interindividual Variability in Thyroid Cartilage Lamina Width and Its Implications for Personalized Medialization Thyroplasty

by Mar Gimeno-Coret, Natsuki Oishi, Rosa Hernández-Sandemetrio and Enrique Zapater

J. Pers. Med. 2026, 16(6), 294; https://doi.org/10.3390/jpm16060294 - 29 May 2026

Abstract

Aim: The aim of this study was to analyze anterior and posterior thickness measurements of the thyroid cartilage lamina and to assess their association with age and sex, with a focus on interindividual anatomical variability relevant to personalized medialization thyroplasty. Methods: [...] Read more.

Aim: The aim of this study was to analyze anterior and posterior thickness measurements of the thyroid cartilage lamina and to assess their association with age and sex, with a focus on interindividual anatomical variability relevant to personalized medialization thyroplasty. Methods: A retrospective observational study was conducted on 47 patients with unilateral vocal cord paralysis who were candidates for medialization thyroplasty. The thickness of the thyroid cartilage was measured at its anterior and posterior aspects on an axial CT scan at the level of the glottic plane. The Wilcoxon signed-rank test was used to compare anterior and posterior thickness measurements, and a generalized linear mixed model (was fitted to assess the influence of anatomical region, age, and sex on cartilage thickness, with patient as a random effect. Results: The posterior thickness was significantly greater than the anterior thickness (median difference = 1 mm; p < 0.001). No significant differences were found in the magnitude of this difference by gender (p = 0.37) or a significant correlation with age (r = 0.16; p = 0.28). The mixed model confirmed that anatomical region was the only statistically significant fixed effect: the posterior region showed a Risk Ratio of 1.71 (95% CI: 1.26–2.32; p < 0.001) relative to the anterior region, indicating that the posterior thickness was approximately 71% greater than that of the anterior region. The interaction between cartilage thickness, age and gender was not statistically relevant. Discussion: In our sample, the thyroid cartilage had a thicker posterior width in both sexes. These findings underscore the importance of individualized radiological assessment in laryngeal framework surgery and support a personalized approach to implant selection and surgical planning in medialization thyroplasty. Full article

(This article belongs to the Special Issue Personalized Diagnostics and Therapeutics in Otolaryngology)

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10 pages, 883 KB

Open AccessArticle

Psychobehavioral Assessment and Brief Cognitive–Behavioral Therapy in Resistant Arterial Hypertension: A Feasibility-Oriented Pilot Study Within a Precision Medicine Framework

by Apoenna Marina Noronha Brito, Enilson Carmo Barbosa Dos Santos, Andre Rodrigues Duraes and Carla Daltro

J. Pers. Med. 2026, 16(6), 293; https://doi.org/10.3390/jpm16060293 - 28 May 2026

Abstract

Background: Resistant arterial hypertension (RAH) is a heterogeneous cardiovascular condition influenced by biological, behavioral, psychosocial, and neuroendocrine mechanisms. Within emerging precision medicine frameworks, psychobehavioral assessment may contribute to a more individualized characterization of patients with RAH and help identify modifiable dimensions associated with [...] Read more.

Background: Resistant arterial hypertension (RAH) is a heterogeneous cardiovascular condition influenced by biological, behavioral, psychosocial, and neuroendocrine mechanisms. Within emerging precision medicine frameworks, psychobehavioral assessment may contribute to a more individualized characterization of patients with RAH and help identify modifiable dimensions associated with therapeutic resistance. This study evaluated the feasibility and preliminary outcomes of a brief psychobehavioral intervention in patients with RAH. Methods: This feasibility-oriented exploratory pre–post pilot study included 20 adults with RAH recruited from a tertiary outpatient clinic specialized in resistant hypertension. Participants underwent psychobehavioral assessment using the Hospital Anxiety and Depression Scale (HADS). Individuals presenting clinically significant anxiety and/or depressive symptoms (scores ≥ 8) received an individualized semi-structured brief cognitive–behavioral therapy (CBT) intervention consisting of 8–9 weekly sessions. Feasibility indicators included intervention adherence, completion of the protocol, operational flexibility, and absence of symptom worsening. Pre- and post-intervention emotional symptoms were compared using nonparametric analyses. Results: High baseline emotional burden was observed, with 90% of participants presenting anxiety symptoms and 60% depressive symptoms. Following the intervention, reductions in anxiety [median 11 (IQR 8–13) vs. 6 (4–8); p < 0.001] and depressive symptoms [10 (8–11) vs. 5 (3–8); p < 0.001] were identified. No worsening of symptoms occurred. The intervention demonstrated satisfactory feasibility and acceptability, including flexibility for remote and in-person delivery. Conclusions: These preliminary findings suggest that psychobehavioral phenotyping combined with individualized brief CBT may represent a feasible complementary strategy within precision-oriented cardiovascular care for resistant hypertension. Although causal inference cannot be established due to the pilot design and absence of a control group, the findings support further investigation of psychobehavioral dimensions as potentially relevant components of personalized hypertension management. Full article

(This article belongs to the Section Personalized Therapy in Clinical Medicine)

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18 pages, 312 KB

Open AccessReview

Precision Medicine in Inherited Retinal Disease: Advances, Challenges, and Future Directions

by Thanansayan Dhivagaran, Fahad R. Butt, Krystal Grover, Krish Devgan, Kyran Sachdeva, Varounan Dhivagaran, Fatima Abid, Brendan K. Tao, Michael Balas, Ioannis Dimopoulos and Adil Bhatti

J. Pers. Med. 2026, 16(6), 292; https://doi.org/10.3390/jpm16060292 - 28 May 2026

Abstract

Background/Objectives: Inherited retinal diseases (IRDs) represent a group of rare conditions characterized by significant clinical and genetic heterogeneity. Historically, the diagnosis of these conditions relied primarily on clinical presentation and imaging techniques. This literature review aims to discuss the current state of progress [...] Read more.

Background/Objectives: Inherited retinal diseases (IRDs) represent a group of rare conditions characterized by significant clinical and genetic heterogeneity. Historically, the diagnosis of these conditions relied primarily on clinical presentation and imaging techniques. This literature review aims to discuss the current state of progress and ongoing challenges in applying precision medicine approaches to IRDs and to examine how advances in genetic testing have transformed diagnostics and opened new therapeutic avenues. Methods: This review examines the application of genetic testing methods to IRDs, with particular focus on next-generation sequencing (NGS) technologies. The review also evaluates current patient selection protocols that combine genetic confirmation, retinal structural evaluation, and detailed genetic counselling to achieve optimal therapeutic outcomes. Results: The implementation of NGS has significantly enhanced diagnostic capabilities for IRDs by enabling precise identification of specific genetic mutations. This advancement has paved the way for targeted therapeutic strategies, exemplified by Luxturna for RPE65-related IRDs. However, several barriers to broader adoption of precision medicine persist, including high costs, varied access to services, and complexities in interpreting genetic variants. Conclusions: While the continued development of innovative therapeutic modalities offers promise for expanding treatment options for IRDs, fully harnessing the potential of current and emerging therapeutic technologies requires addressing existing economic, technological, educational, and infrastructural challenges. Full article

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

16 pages, 1798 KB

Open AccessReview

Anatomical Variations in Critical Structures in Esophageal Surgery: Implications for Personalized Surgery

by George Triantafyllou, Adam Mylonakis, Nikoletta Dimitriou, Chrysovalantis Vergadis, Orestis Lyros, George Tsakotos, Maria Piagkou and Dimitrios Schizas

J. Pers. Med. 2026, 16(6), 291; https://doi.org/10.3390/jpm16060291 - 27 May 2026

Abstract

Esophageal cancer remains a global challenge, with poor overall survival despite advances in multimodal therapy. Surgical resection continues to be the main curative treatment, yet esophagectomy is among the most technically challenging oncological procedures due to the esophagus’s location within the densely packed [...] Read more.

Esophageal cancer remains a global challenge, with poor overall survival despite advances in multimodal therapy. Surgical resection continues to be the main curative treatment, yet esophagectomy is among the most technically challenging oncological procedures due to the esophagus’s location within the densely packed mediastinal corridor. Critical vascular, neural, and lymphatic structures surround the esophagus, and their frequent anatomical variations pose significant risks during mobilization, lymphadenectomy, and reconstruction. This review synthesizes current evidence on the anatomical variability in the vessels, nerves, lymphatics, and fascial compartments relevant to esophageal surgery. Particular emphasis is placed on aberrant arterial and venous patterns, recurrent and non-recurrent laryngeal nerve pathways, thoracic duct variants and atypical courses, and the fascial planes that are used to define surgical boundaries. By shifting the surgical paradigm from standardized anatomical assumptions to patient-specific structural mapping, we highlight how understanding these variations is driving the field of personalized surgical medicine. By integrating these anatomical insights with surgical approaches—including right and left transthoracic, transhiatal, and transcervical techniques—we highlight the implications of variations for intraoperative safety and postoperative outcomes. A thorough understanding of these relationships is essential for surgical planning, minimizing morbidity, and achieving oncological outcomes. Ultimately, a thorough understanding of these relationships is essential for patient-tailored surgical planning. Full article

(This article belongs to the Special Issue Personalized Management of Abdominal Surgery and Complications)

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11 pages, 404 KB

Open AccessArticle

Personalized Decision-Making in Periodontal Therapy: Systemic and Demographic Factors Influencing Surgical vs. Non-Surgical Re-Treatment

by Georgios S. Chatzopoulos and Larry F. Wolff

J. Pers. Med. 2026, 16(6), 290; https://doi.org/10.3390/jpm16060290 - 27 May 2026

Abstract

Background/Objectives: The aim of this retrospective cohort study was to identify and analyze the demographic, systemic, and clinical factors associated with the type of periodontal therapy (surgical vs. non-surgical re-treatment) to better inform multifactorial approaches in periodontal treatment planning. Methods: Electronic [...] Read more.

Background/Objectives: The aim of this retrospective cohort study was to identify and analyze the demographic, systemic, and clinical factors associated with the type of periodontal therapy (surgical vs. non-surgical re-treatment) to better inform multifactorial approaches in periodontal treatment planning. Methods: Electronic health records were analyzed to identify two distinct patient cohorts. The surgical cohort included patients who received one or more surgical procedures (i.e., gingival flap, osseous surgery). The non-surgical re-treatment cohort included patients who received scaling and root planing on more than one occasion and had no history of surgical treatment. Bivariate analyses (t-tests and Chi-square tests) were used to compare cohort characteristics, and a multivariable binary logistic regression model was developed to identify independent predictors of receiving surgical treatment. Results: A total of 3794 patients were included in the final analysis. The non-surgical re-treatment cohort presented with significantly more severe periodontal disease at baseline, including a higher number of bleeding sites and deep pockets (p < 0.001). The logistic regression analysis revealed that a higher number of bleeding sites (OR = 0.984) and deep pockets (OR = 0.987) were significantly associated with a decreased likelihood of receiving surgical treatment. Patients with high blood pressure (OR = 0.620) or arthritis (OR = 0.611) also had significantly lower odds of receiving surgery. Conversely, White patients had significantly higher odds (OR = 1.366) of receiving surgical therapy compared to non-White patients. Conclusions: Within the limitations of this study, the selection between surgical and non-surgical periodontal therapy is a multifactorial decision. Initial disease severity, specific systemic conditions, and patient race were significant predictors of the treatment provided. These findings highlight the necessity of adopting a multifactorial risk assessment framework in periodontology—one that integrates systemic and demographic risk factors alongside clinical parameters to tailor equitable, patient-specific care. Full article

(This article belongs to the Special Issue Personalized Dentistry: From Multidisciplinary Diagnosis to Precision Treatment)

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10 pages, 994 KB

Open AccessArticle

Early Risk Stratification and Mortality Prediction in Gastrointestinal Perforation: A Retrospective Cohort Study for Personalized Surgical Decision Making

by Giulia Colombo, Marco Longhi, Matteo Capuzzo and Pietro Bisagni

J. Pers. Med. 2026, 16(6), 289; https://doi.org/10.3390/jpm16060289 - 27 May 2026

Abstract

Background: Gastrointestinal perforation is a life-threatening surgical emergency associated with high morbidity and mortality despite advances in imaging, perioperative care, and emergency surgical management. Early identification of patients at increased risk of death may improve perioperative risk stratification and support personalized clinical decision-making [...] Read more.

Background: Gastrointestinal perforation is a life-threatening surgical emergency associated with high morbidity and mortality despite advances in imaging, perioperative care, and emergency surgical management. Early identification of patients at increased risk of death may improve perioperative risk stratification and support personalized clinical decision-making in emergency settings. Methods: We conducted a retrospective observational cohort study including 166 consecutive adult patients undergoing emergency surgery for gastric, duodenal, ileal, colonic, or intraperitoneal rectal perforation between January 2021 and December 2025. Appendiceal perforations, iatrogenic perforations, and anastomotic leaks were excluded. Univariate analysis was performed using appropriate non-parametric and categorical statistical tests. Variables with p < 0.05 were considered for multivariable logistic regression analysis. Postoperative variables potentially influenced by the outcome were excluded to reduce reverse causation and overadjustment bias. Age was analyzed as a continuous variable in regression analysis and subsequently dichotomized at 75 years for development of a simplified bedside score. Results: Overall in-hospital mortality was 22.3% (37/166). Increasing age (OR 1.08 per year increase, 95% CI 1.04–1.12; p < 0.001), septic shock at emergency department admission (OR 7.06, 95% CI 1.29–38.65; p = 0.024), and intraoperative vasopressor requirement (OR 6.45, 95% CI 1.34–31.10; p = 0.020) were independently associated with mortality. A simplified predictive score based on these variables demonstrated good discrimination, with an area under the receiver operating characteristic curve (AUC) of 0.83. Conclusions: Mortality following gastrointestinal perforation was associated primarily with early physiological derangement and patient frailty rather than anatomical or technical surgical factors alone. Early identification of high-risk patients may support perioperative risk stratification and patient-centered emergency surgical decision-making. The proposed predictive score should be considered preliminary and hypothesis-generating, as neither internal nor external validation was performed. Full article

(This article belongs to the Section Personalized Preventive Medicine)

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17 pages, 1366 KB

Open AccessReview

Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions

by Sujin Kang, Byron L. Lam, Winston Lee, Audina M. Berrocal, Ninel Z. Gregori, Carlos E. Mendoza-Santiesteban and Jesse D. Sengillo

J. Pers. Med. 2026, 16(6), 288; https://doi.org/10.3390/jpm16060288 - 27 May 2026

Abstract

Inherited retinal diseases (IRDs) are a major cause of visual impairment worldwide, marked by extensive genetic and phenotypic heterogeneity. Recent estimates from the U.S. suggest a prevalence of nearly 1 in 1000 individuals, reflecting both disease burden and improved diagnostic recognition. This review [...] Read more.

Inherited retinal diseases (IRDs) are a major cause of visual impairment worldwide, marked by extensive genetic and phenotypic heterogeneity. Recent estimates from the U.S. suggest a prevalence of nearly 1 in 1000 individuals, reflecting both disease burden and improved diagnostic recognition. This review traces the shift from linkage analysis and Sanger sequencing to high-throughput next-generation sequencing, including panel-based, whole-exome, and whole-genome sequencing. Phenotype-driven testing strategies and standardized variant interpretation frameworks, such as the American College of Medical Genetics and Genomics guidelines, have substantially increased diagnostic yield. Copy number and structural variant detection, transcriptomics, and functional assays further help address unresolved cases. Nonetheless, barriers remain regarding cost, access, and the interpretation of variants of uncertain significance. Molecular confirmation has become essential for access to novel gene-directed therapies, exemplified by voretigene neparvovec for biallelic RPE65 variants, and is often a prerequisite for clinical trial participation. The growing role of genetic testing highlights the need for multidisciplinary evaluation and standardized outcome measures. Emerging tools, including artificial intelligence-assisted variant prioritization, image-to-genotype modeling, and multi-omics analyses, bridge molecular diagnoses with clinical phenotypes, accelerating the transition to targeted therapies. Continued progress will depend on increased access, standardized analytical regulations, and the integration of emerging technologies into routine clinical care. Full article

(This article belongs to the Special Issue Retinal Diseases: Mechanisms, Diagnosis and Treatments)

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16 pages, 1052 KB

Open AccessReview

Personalized Sudden Cardiac Death Risk Stratification in Hypertrophic Cardiomyopathy: Beyond Conventional Risk Scores

by Jacopo Costantino, Federico Ballatore, Daniele Porcelli, Barbara Romani, Massimiliano Campoli, Lorenzo Maria Zuccaro, Giulia Marchionni, Maria Alfarano, Samuel Costantino and Cristina Chimenti

J. Pers. Med. 2026, 16(6), 287; https://doi.org/10.3390/jpm16060287 - 26 May 2026

Abstract

Hypertrophic Cardiomyopathy (HCM) is one of the most common inherited cardiomyopathies and remains an important cause of ventricular arrhythmias and sudden cardiac death (SCD), particularly in younger individuals. Although the annual incidence of arrhythmic death is relatively low in contemporary cohorts, identifying those [...] Read more.

Hypertrophic Cardiomyopathy (HCM) is one of the most common inherited cardiomyopathies and remains an important cause of ventricular arrhythmias and sudden cardiac death (SCD), particularly in younger individuals. Although the annual incidence of arrhythmic death is relatively low in contemporary cohorts, identifying those patients who may benefit from primary prevention with an implantable cardioverter-defibrillator (ICD) remains a major clinical challenge. Current risk stratification strategies rely on two principal paradigms. The European approach is centered on the HCM Risk-SCD score, whereas the American approach is mainly based on major clinical risk markers. Both strategies have important strengths and limitations, reflecting the persistent difficulty of accurately predicting arrhythmic events in such a heterogeneous disease. The HCM Risk-SCD score has demonstrated robust external validation and high specificity for identifying patients at higher risk, but it may fail to recognize some vulnerable individuals who remain below conventional treatment thresholds. For this reason, several additional risk modifiers have gained increasing relevance in contemporary practice. Among them, extensive late gadolinium enhancement, left ventricular systolic dysfunction, apical aneurysm, and clinically meaningful genetic findings may provide important incremental prognostic information beyond traditional models. Emerging disease-modifying therapies, in particular Mavacamten, may also influence future risk assessment. However, whether these improvements translate into a true reduction in SCD risk remains uncertain. Importantly, the decision to implant an ICD should not depend on numerical risk alone. It should arise from a process of shared decision-making integrating estimated risk, treatment burden, competing comorbidities, age, lifestyle, and patient values. In this context, the concept of an individualized threshold of “acceptable risk” becomes central. In conclusion, prevention of SCD in HCM is moving beyond conventional scores toward a personalized and dynamic framework in which predictive tools, advanced phenotyping, evolving therapies, clinical expertise, and patient preferences are combined to guide individualized care. Full article

(This article belongs to the Special Issue Inflammation and Immunity in Cardiovascular Diseases)

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13 pages, 1450 KB

Open AccessArticle

Diabetes May Modulate the Association Between Age and Optical Coherence Tomography Angiography Parameters: A Serial, Cross-Sectional Study

by Abu Taha, Yi Stephanie Zhang, Chu Jian Ma and Jay M. Stewart

J. Pers. Med. 2026, 16(6), 286; https://doi.org/10.3390/jpm16060286 - 26 May 2026

Abstract

Purpose: We investigated the association between age and retinal microvasculature parameters as measured by optical coherence tomography angiography (OCTA) and the modifying effect of diabetes status on this association. Methods: In this serial, cross-sectional study, 3 × 3 mm² macular OCTA images [...] Read more.

Purpose: We investigated the association between age and retinal microvasculature parameters as measured by optical coherence tomography angiography (OCTA) and the modifying effect of diabetes status on this association. Methods: In this serial, cross-sectional study, 3 × 3 mm² macular OCTA images were obtained from healthy adults and adults with diabetes mellitus (DM) with no diabetic retinopathy (DR) or with mild non-proliferative DR (NPDR). The parameters analyzed included foveal avascular zone (FAZ) area and perimeter, vessel density (VD), vessel length density (VLD), and flow index (FI) of the superficial capillary plexus (SCP) and deep capillary plexus (DCP). The associations between OCTA parameters and age were explored using multivariable linear regression models. Results: For the included 1855 patients (1855 eyes) (49% male; mean age: 55 years), the results were as follows: no diabetes (N = 217), DM no DR (N = 1352), and mild NPDR (N = 286). Increasing age was significantly associated with decreased SCP and DCP VD and VLD in the diabetic and non-diabetic groups. The slope of association between SCP and DCP FI and age in the diabetic patients was significantly different than that in the control patients. Conclusions: The strength of the association between aging and OCTA parameters differed significantly between the controls and those with early retinopathy, pointing to a potentially altered retinal vascular homeostasis secondary to diabetic pathophysiology. This finding offers insight into the early pathological biomarkers of DR and may guide early DR management for patients based on personalized risk scores. Full article

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19 pages, 376 KB

Open AccessReview

Clinical Significance of Non-Invasive Skin Autofluorescence Measurement and AI Applications in Patients with Diabetic Foot Ulcers: A Scoping Review

by Cosimo Aliani, Piergiorgio Francia, Cosimo Nardi, Alessandra De Bellis, Roberto Anichini and Leonardo Bocchi

J. Pers. Med. 2026, 16(6), 285; https://doi.org/10.3390/jpm16060285 - 26 May 2026

Abstract

Emerging optical technologies may offer new opportunities for the non-invasive assessment of diabetic foot ulcers (DFUs), but the role of artificial intelligence (AI)-assisted autofluorescence-based approaches remains unclear. This scoping review aimed to map and summarise the published evidence on AI-assisted analysis of autofluorescence/fluorescence-based [...] Read more.

Emerging optical technologies may offer new opportunities for the non-invasive assessment of diabetic foot ulcers (DFUs), but the role of artificial intelligence (AI)-assisted autofluorescence-based approaches remains unclear. This scoping review aimed to map and summarise the published evidence on AI-assisted analysis of autofluorescence/fluorescence-based signals for DFU assessment and management. We searched Scopus, Web of Science, Embase, PubMed, CINAHL, Google Scholar, and the SPIE Digital Library, and also considered conference proceedings. We included English-language studies published between 2010 and October 2025. Of 197 records identified through database searching, 22 full-text articles were assessed for eligibility, and 5 studies met the inclusion criteria. Four studies focused on infection-related applications, specifically bacterial burden detection and Gram-type classification, whereas one study investigated tissue oxygenation estimation using a related optical imaging approach. All included studies were published between 2022 and 2025, were conducted in India, and four of the five evaluated the same device family or related variants. Overall, the evidence base was limited, geographically restricted, and technologically narrow. In addition, reporting of participant characteristics and AI methodology was often incomplete, with several studies relying on embedded proprietary or insufficiently described algorithmic components. Taken together, the available literature supports early proof-of-feasibility in restricted and largely device-specific evaluation settings rather than robust evidence of broad clinical validity, implementation readiness, or routine-care utility. Larger, more diverse, and independently validated studies with standardised acquisition procedures and more transparent AI reporting are needed before these approaches can be meaningfully evaluated for routine DFU care. Full article

(This article belongs to the Special Issue Clinical Progress of Diabetic Foot)

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