Journal of Personalized Medicine最新文献

Artificial intelligence (AI) is rapidly reshaping gastrointestinal (GI) surgery by enhancing decision-making, intraoperative performance, and postoperative management. The integration of AI-driven systems is enabling more precise, data-informed, and personalized surgical interventions. This review provides a state-of-the-art overview of AI applications in GI surgery, organized into four key domains: surgical simulation, surgical computer vision, surgical data science, and surgical robot autonomy. A comprehensive narrative review of the literature was conducted, identifying relevant studies of technological developments in this field. In the domain of surgical simulation, AI enables virtual surgical planning and patient-specific digital twins for training and preoperative strategy. Surgical computer vision leverages AI to improve intraoperative scene understanding, anatomical segmentation, and workflow recognition. Surgical data science translates multimodal surgical data into predictive analytics and real-time decision support, enhancing safety and efficiency. Finally, surgical robot autonomy explores the progressive integration of AI for intelligent assistance and autonomous functions to augment human performance in minimally invasive and robotic procedures. Surgical AI has demonstrated significant potential across different domains, fostering precision, reproducibility, and personalization in GI surgery. Nevertheless, challenges remain in data quality, model generalizability, ethical governance, and clinical validation. Continued interdisciplinary collaboration will be crucial to translating AI from promising prototypes to routine, safe, and equitable surgical practice.

Endocervical adenocarcinoma is now classified within an etiologic framework based on the presence or absence of high-risk human papillomavirus (HPV) infection. Gastric-type endocervical adenocarcinoma (GAS) is the prototypical HPV-independent subtype, accounting for up to 25% of endocervical adenocarcinomas and showing a particularly high frequency in East Asia. GAS is typically diagnosed at a more advanced stage than usual-type HPV-associated endocervical adenocarcinoma (UEA); exhibits deep stromal and parametrial invasion, lymphovascular space invasion, and a strong propensity for ovarian and peritoneal metastasis; and is associated with markedly worse survival, even in stage I disease. Radiological evaluation is challenging because of diffuse infiltrative growth, prominent mucin production, and frequent underestimation of extra-cervical spread. Histologically, GAS shows gastric-type (pyloric) differentiation, ranging from minimal deviation adenocarcinoma to poorly differentiated forms, and often overlaps with precursor lesions such as atypical lobular endocervical glandular hyperplasia and gastric-type adenocarcinoma in situ. Immunophenotypically, GAS is typically p16-negative, ER/PR-negative, and frequently exhibits mutant-type p53 and expression of gastric markers including MUC6, HIK1083, and claudin 18.2. Recent next-generation sequencing and multi-omics studies have revealed recurrent alterations in TP53, CDKN2A, STK11, KRAS, ARID1A, KMT2D, and homologous recombination-related genes, together with the activation of PI3K/AKT, WNT/β-catenin, TGF-β, and EMT pathways and characteristic metabolic reprogramming. GAS is highly resistant to conventional chemotherapy and radiotherapy, and its current management follows guidelines for squamous and usual-type adenocarcinoma. Emerging data support precision-medicine approaches targeting HER2/HER3, PD-1/PD-L1, and claudin 18.2, and suggest a role for PARP inhibition and other genotype-directed therapies in selected subsets. Given its aggressive biology and rising relative incidence in the HPV-vaccination era, GAS represents a critical unmet need in gynecologic oncology. Future progress hinges on developing reliable diagnostic biomarkers, refining imaging protocols, and validating targeted therapies through international clinical trials.

Coronary bifurcation disease remains one of the more challenging lesion subsets to treat with percutaneous coronary intervention due to bifurcation geometry and increased risk of target lesion failure. Whilst a provisional approach is preferred in most bifurcations, two-stent techniques may be required where there is a high risk of side branch compromise or a bailout; however, this further increases procedure complexity. Drug-coated balloons (DCBs) are emerging as a promising alternative that allow vessel healing without leaving behind a permanent metallic implant by delivering antiproliferative medication directly to the vessel wall and simplifying procedures. This state-of-the-art review summarises the current evidence and the evolving role of DCBs in the management of coronary bifurcation lesions with a focus on patient- and lesion-specific factors that might influence the treatment strategy choice.

Background/Objective: Traditional therapeutic drug monitoring is limited by manual interpretation and specific constraints like sampling at steady-state and requiring a minimum of two drug concentrations. The integration of model-informed precision dosing (MIPD) into population health informatics represents a promising approach to address drug safety and efficacy. This article explored the integration of MIPD within population health informatics and evaluated its potential to enhance precision dosing using artificial intelligence (AI), machine learning (ML), and electronic health records (EHRs). Methods: PubMed and Embase searches were conducted, and all relevant peer-reviewed studies in English published between 1958 and December 2024 were included if they pertained to MIPD and population-level health, with the use of AI/ML algorithms to predict individualized drug dosing requirements. Emphasis was placed on vulnerable populations such as critically-ill, geriatric, and pediatric groups. Results: MIPD with the Bayesian method represents a scalable innovation in precision medicine, with significant implications for population health informatics. By combining AI/ML with comprehensive electronic health records (EHRs), MIPD can offer real-time, precise dosing adjustments. This integration has the potential to improve patient safety, optimize therapeutic outcomes, and reduce healthcare costs, especially for vulnerable populations where evidence is limited. Successful implementation requires collaboration among clinicians, pharmacists, and health informatics professionals, alongside secure data management and interoperability solutions. Conclusions: Further research is needed to define, implement, and evaluate practical applications of AI/ML. This insight may help develop standards and identify drugs for MIPD to advance personalized medicine within population health informatics.

Introduction: Mucosal melanomas are rare, and vulvar melanoma is typically diagnosed at an advanced stage with aggressive behavior and poor prognosis. The clitoral region adds challenges due to its functional importance and lack of a dedicated staging system, requiring individualized management. This review evaluates current evidence on prognosis with emphasis on clitoral involvement and highlights diagnostic and therapeutic challenges, underscoring the need for personalized strategies and prospective multicentre studies. Materials and Methods: A systematic review, registered in PROSPERO (CRD420251151187), was conducted per PRISMA guidelines across PubMed, Scopus, Embase, and Web of Science, including English-language case reports and series of primary clitoral melanoma published until August 2025, with no historical limits. Results: 15 cases from 10 studies were identified. The mean patient age was 60 years, with most tumors presenting at advanced stages (median Breslow thickness of 8 mm, frequent ulceration). Immunohistochemical markers and gene mutations are rarely investigated in reported cases. All patients underwent surgery, with variable lymph node assessment; adjuvant therapy was rarely used. Recurrence occurred in nearly one-third of cases, sometimes more than 10 years after initial treatment. Conclusions: Primary clitoral melanoma is extremely rare and often diagnosed late, underscoring the need for heightened clinical awareness. Wide local excision with organ preservation is preferred, and bilateral sentinel lymph-node biopsy can improve staging. The absence of a dedicated staging system and limited systemic evidence highlight the need for standardized protocols. Emerging molecular and immunologic approaches are promising, but prospective multicentre studies are essential to guide management.

Aim: Finding innovative paraclinical parameters is necessary for advancing clinical research, in obstetrics and gynecology for subjective symptoms such as pain, especially in patients with a weakened immune system, following, for example, different obstetrical and gynecological surgeries. The purpose of this study was to analyze if genetic markers can correlate with the postoperative outcome and surgical results in obstetrics and gynecology. We wanted to analyze whether patients carrying the G gene responsible for the A11G polymorphism of the OPRM1 receptor really have a higher need for analgesic doses for postoperative pain control, depending on the histopathological results, benign or malignant tumors, dimensions of tumors, type of incision performed, and hospitalization period. Materials and Methods: We analyzed 111 patients, including both obstetrical and gynecological cases. Blood samples (2 mL) for DNA analysis were obtained before surgery in a tube containing EDTA as an anticoagulant and immediately stored at -20 °C until required for further use. The blood samples, which were collected at the time of intravenous cannulation before surgery, were analyzed for the presence of SNP 118AG. Results: We examined the mutation of the opioid receptor called OPRM1 for the polymorphism noted with AG with a plus sign (+) (present) in 24.3% of the patients, with a minus sign (-) (AA) (absent) in 66.7% of the patients, and with a result with both genes modified (GG) in 9%. We correlated the data obtained in histopathology and clinical anamnesis with these results. The OPRM1(+) morphine receptor mutation was more frequently encountered in patients with biopsy uterine curettage (60%) with benign results in anatomopathology, uterine myomectomy of at least 5 cm fibromas with benign results in anatomopathology (50%), Madden mastectomy (50%), interventional hysteroscopy (33.3%) with extraction of benign tumors such as polyps or endometrial hyperplasia, caesarean section-associated surgeries (20.7%), and ovarian cystectomy (20%) (p = 0.048) that had a final benign anatomopathology result. Conclusions: Pain management in the postoperative phase is difficult for clinicians because of the response of patients to opioid therapy. Some of this variability in pain response may result from single nucleotide polymorphisms (SNPs) in the human opioid receptor mu-1 (OPRM1) that alter receptor binding or signal transduction. Part of the difficulty in identifying genes and variants that affect postsurgical pain is the inconsistent findings and poor replicability of results.

(1) Background: Endometriosis and chronic endometritis (CE) are pathologies that are positively correlated and have similar paracrine and immunological alterations. This leads us to wonder whether their interrelationship plays a role in the etiopathogenesis or progression of endometriosis. The purpose of this study is to evaluate whether patients with endometriosis and CE have a more advanced stage of the disease, higher rates of pain, a poorer response to treatment, and a greater association with other pathologies compared to women with endometriosis without CE. (2) Methods: This is a cross-sectional pilot design study of 37 women with endometriosis who underwent endometrial aspiration for the diagnosis of CE and were followed up at the Puerta de Hierro Hospital. (3) Results: All patients with CE in this study had adenomyosis (p = 0.004). There was a relatively homogeneous distribution of CE in the different endometriosis phenotypes. The group of patients with endometriosis and CE indicated higher rates of pain during ovulation and less pain during defecation and sexual intercourse. (4) Conclusions: A high prevalence of CE was observed in patients with endometriosis, as well as a trend suggesting a relationship between CE and adenomyosis that should be studied. The following article attempts to reflect a link found between endometriosis and chronic endometritis, which would be important when prescribing personalized medicine, as it forces us to look for a specific disease in a specific patient profile.

Background/Objectives: Mechanical neutrality has long been regarded as the principal alignment target in total knee arthroplasty (TKA). However, radiographic neutrality does not necessarily reflect physiological morphology or patient perception. This study aimed to evaluate one-week postoperative patient-perceived lower-limb straightness after unrestricted kinematic alignment (KA) TKA and to examine its relationship with radiographic alignment parameters and functional findings. Methods: A total of 175 patients (203 knees) who underwent unrestricted KA-TKA were retrospectively reviewed. Pre- and postoperative radiographs, clinical assessments, and a study-specific, non-validated questionnaire were analyzed one week postoperatively. Patient perception of straightness was assessed using the Straightness Visual Analog Scale (S-VAS) and the Straightness Satisfaction Visual Analog Scale (SS-VAS). Radiographic parameters included the hip-knee-ankle angle (HKAA), the medial proximal tibial angle (MPTA), the mechanical lateral distal femoral angle (mLDFA), the joint line convergence angle (JLCA), and Coronal Plane Alignment of the Knee (CPAK) patterns. Correlative analyses between VAS scores and radiographic and clinical parameters were examined. Results: Preoperatively, 85% of knees were perceived as bowed, and all were reported as straight after surgery. Among knees not perceived as bowed preoperatively, 60% were newly perceived as straight postoperatively, while 40% remained perceived as straight. Postoperative satisfaction was high (S-VAS 88.9 ± 11.6; SS-VAS 92.3 ± 12.9). Associations between S-VAS/SS-VAS and HKAA were weak but statistically significant, whereas both showed moderate positive correlations with postoperative knee extension (S-VAS r = 0.54; SS-VAS r = 0.59). Conclusions: At one week after surgery, patients tended to perceive lower-limb straightness as being associated with restoration of physiological morphology and improved knee extension rather than with radiographic mechanical neutrality. Patient-perceived straightness reflects an individualized and natural sense of limb alignment ("inherent straightness") and should be interpreted as an exploratory, patient-centered concept based on an early postoperative test, supporting a personalized framework for alignment evaluation in unrestricted KA-TKA.

Artificial intelligence (AI) is rapidly reshaping adult cardiac surgery, enabling more accurate diagnostics, personalized risk assessment, advanced surgical planning, and proactive postoperative care. Preoperatively, deep-learning interpretation of ECGs, automated CT/MRI segmentation, and video-based echocardiography improve early disease detection and refine risk stratification beyond conventional tools such as EuroSCORE II and the STS calculator. AI-driven 3D reconstruction, virtual simulation, and augmented-reality platforms enhance planning for structural heart and aortic procedures by optimizing device selection and anticipating complications. Intraoperatively, AI augments robotic precision, stabilizes instrument motion, identifies anatomy through computer vision, and predicts hemodynamic instability via real-time waveform analytics. Integration of the Hypotension Prediction Index into perioperative pathways has already demonstrated reductions in ventilation duration and improved hemodynamic control. Postoperatively, machine-learning early-warning systems and physiologic waveform models predict acute kidney injury, low-cardiac-output syndrome, respiratory failure, and sepsis hours before clinical deterioration, while emerging closed-loop control and remote monitoring tools extend individualized management into the recovery phase. Despite these advances, current evidence is limited by retrospective study designs, heterogeneous datasets, variable transparency, and regulatory and workflow barriers. Nonetheless, rapid progress in multimodal foundation models, digital twins, hybrid OR ecosystems, and semi-autonomous robotics signals a transition toward increasingly precise, predictive, and personalized cardiac surgical care. With rigorous validation and thoughtful implementation, AI has the potential to substantially improve safety, decision-making, and outcomes across the entire cardiac surgical continuum.

Background: Major depressive disorder (MDD) is often accompanied by generalized anxiety disorder (GAD), a comorbidity linked to greater illness burden and potentially poorer outcomes. Repetitive transcranial magnetic stimulation (rTMS) and intermittent theta-burst stimulation (iTBS) are established treatments for MDD, yet the impact of comorbid GAD and concomitant medications remains unclear. This study aimed to compare rTMS/iTBS treatment outcomes between patients with MDD with and without comorbid GAD, and to examine the association between concomitant psychotropic medication use, stimulation protocol, and treatment response in a real-world clinical setting. Methods: We conducted a retrospective observational analysis using registry data from 108 patients (MDD + GAD: n = 36; MDD only: n = 72). Patients received either Left-iTBS or Right-rTMS. Baseline severity, percentage change in Montgomery-Åsberg Depression Rating Scale (MADRS) and Hamilton Depression Rating Scale (HAMD-17) scores, response, and remission were assessed. Logistic and linear regression models adjusted for age, sex, and baseline severity were applied. Sensitivity analyses stratified by stimulation protocol and benzodiazepine (BDZ) use were performed. Results: Baseline severity did not differ between groups. MADRS reduction was numerically lower in the comorbid GAD group (48.3% vs. 52.7%, p = 0.09), whereas HAMD-17 reduction was comparable. Response and remission rates did not differ significantly. Medication use and stimulation protocol did not show statistically significant independent associations with outcomes. Sensitivity analyses confirmed equivalent outcomes between Left-iTBS and Right-rTMS. BDZ users showed a non-significant trend toward lower MADRS improvement and remission. Conclusions: rTMS/iTBS produced substantial clinical improvement and was well tolerated in both patients with MDD and those with MDD comorbid with GAD. Although comorbid anxiety showed a modest tendency to attenuate MADRS score reduction, overall response and remission rates were comparable between groups. Neither concomitant medications nor stimulation protocol significantly affected treatment outcomes, while the potential influence of BDZ exposure warrants further investigation.