Journal of Personalized Medicine最新文献

Dry eye disease (DED) is a common condition that can be associated with cataract surgery, requiring pre- and postoperative considerations. Pre-existent DED and disruption of the tear film homeostasis due to incisional corneal nerve damage, intra-operative ocular surface drying, microscope phototoxicity, or the toxic effects of preservatives and active ingredients of postoperative drops or a combination thereof, represents a potential mechanism for worsening or developing DED after cataract surgery. Recent diagnostic advancements have enabled us better to understand the pathophysiology of DED after cataract surgery. For patients with pre-existing DED before cataract surgery, early intervention can improve surgical outcomes. In contrast, failure to recognize DED risk factors or subtle signs can result in inaccurate refractive measurements, poor surgical outcomes, including serious complications, worsening of dry eye symptoms, patient dissatisfaction, and decreased quality of life. This review presents an overview of the perioperative management of DED in patients undergoing cataract surgery with an emphasis on pre-operative diagnosis and treatment, and its impact on improving surgical refractive outcomes and decreasing complications.

Background: In the era of personalized medicine, the overall therapeutic approach has progressed throughout the years in acromegaly, but biochemical control of the disease is not achieved in a significant proportion of patients. This study aims to systematically record the journey of patients with acromegaly in the context of adenomas characteristics, therapeutic approaches and comorbidities in acromegaly with an emphasis in elderly. Method: In this retrospective study 79 patients were diagnosed with acromegaly between 1971 and 2023. Results: The dataset consisted of 43 (54%) female and 36 male (46%) with an overall mean age ± SD at diagnosis at 45 ± 13 years. 57 (73%) underwent one surgical procedure. Medical treatment with one agent was reported in 36 patients (67%), almost all by somatostatin analogs (89%). Radiotherapy was offered in 14 patients (18%). Disease remission was documented in 67 (85%) patients. IGF1/ULN at diagnosis displayed a tendency to predict non-remission. A diagnostic delay of less than five years was reported in 28 cases (65%) and patients reporting longer delays were older at diagnosis (58 ± 6 years). Patients diagnosed at or above the age of 60 were less likely to undergo a surgical procedure compared to patients diagnosed before the age of 60. Conclusions: Biochemical control was the most frequent disease outcome. A higher IGF-1/ULN ratio tends to predict non-remission. Longer diagnostic delay was reported with advancing age and older patients were less likely to follow surgical procedures.

Background/Objectives: Oral health-related quality of life (OHRQoL) is a complex topic, encompassing the medical, functional and psychosocial aspects of well-being, especially in the context of systemic conditions that can trigger oral cavity impairment. While this subject has been extensively investigated in adults, evidence remains limited in pediatric populations, particularly in children with leukemia who are at high risk for oral complications related to the disease itself and its treatment. Moreover, children and parent perceptions of oral health are essential for guiding preventive and personalized therapeutic strategies, yet they are poorly explored in this clinical context. The objective of this study was to assess OHRQoL in children with leukemia and gingival inflammation, and compare it with that of children without this systemic condition. Methods: This observational, cross-sectional, case-control study was conducted on 99 subjects, divided into two groups: the study group n = 49 leukemia subjects and the control group n = 50 subjects without oncologic pathology. Clinical examination of all subjects was performed and oral health status was evaluated using Oral Health Index-Simplified (OHI-S) and Gingival Index (GI). Parents filled out a personalized exploratory questionnaire, adapted after established scales, designed to capture the child's perceived impact of certain leukemia-related gingivo-periodontal alterations, including pain, ulcerations, gingival bleeding and xerostomia. Data were analyzed using descriptive statistics, Pearson's Chi-square test and comparative graphical analyses (IBM SPSS Statistics 26). Results: Children with leukemia reported higher frequencies of xerostomia, ulcerations and gingival bleeding compared to children in the control group, with xerostomia showing a suggestive association to gingival inflammation. Oral hygiene status of children in the leukemia group was generally better among children receiving parental assistance during brushing or those practicing dental flossing. Comparative graphical analyses showed differences in symptom reporting and oral hygiene support between groups. Conclusions: The results suggest that xerostomia seemed to align with gingival inflammation in children with leukemia, while parental assistance and dental flossing seemed to be associated with better oral hygiene status. Our findings also support the need for developing standardized, disease-oriented scales of evaluating OHRQoL, as well as individualized oral care and continuous monitoring in order to improve oral health-related quality of life in this vulnerable pediatric population.

The journal retracts the article "Machine-Learning-Based Survival Prediction in Castration-Resistant Prostate Cancer: A Multi-Model Analysis Using a Comprehensive Clinical Dataset" [...].

Cancer of unknown primary (CUP) is evolving from a diagnosis of exclusion treated with empirical chemotherapy to a molecularly defined entity amenable to precision-based interventions. This heterogeneous entity, comprising 2-3% of all metastatic malignancies, encompasses diverse cancers with clinically occult primary sites at diagnosis after a thorough workup. Recent landmark trials including CUPISCO and Fudan CUP-001 have demonstrated significant survival improvements with molecularly guided therapies compared to empirical chemotherapy, fundamentally enhancing and complementing traditional organ-centric treatment paradigms. This review synthesizes the current evidence supporting molecular diagnostics, tumor-agnostic therapies, and precision-based approaches in CUP management. We examine the clinical utility of comprehensive genomic profiling, gene expression profiling, and liquid biopsy technologies, while addressing implementation challenges and future directions. The integration of molecular tumor boards and the emergence of tissue/tissue-of-origin agnostic therapies herald a new era where CUP transitions from therapeutic nihilism to personalized oncology. As molecular technologies advance and targeted therapies proliferate, CUP may no longer represent a diagnosis of exclusion but rather an opportunity for molecularly informed precision care.

Background: Thoracic endovascular aortic repair (TEVAR) has evolved the management of descending thoracic aortic disease, but neurological complications-particularly spinal cord ischemia (SCI), stroke, and postoperative delirium-remain among the most feared adverse events, adversely affecting survival, quality of life, and functional independence. Objectives: The aim of this study was to provide a contemporary narrative synthesis (2000-2025) of the incidence, mechanisms, risk factors, prevention, and management of neurological complications after TEVAR, emphasizing how current evidence supports individualized and risk-adapted strategies for prevention and management. Methods: A narrative, non-systematic search (PubMed/MEDLINE, Scopus, Cochrane Library; 2000-2025) was conducted using terms related to TEVAR, SCI, cerebrovascular events, delirium, and cognitive dysfunction. Priority was given to large registries, cohort studies, and systematic reviews in adult TEVAR populations. Results: Perioperative stroke occurs in ~2-6% of TEVAR cases, with higher rates in arch/zone 0-2 procedures and when the left subclavian artery (LSA) is covered without revascularization. SCI incidence ranges from ~2-9%, influenced by aortic extent and urgency; Vascular Quality Initiative data report SCI in 3.7% of procedures, with markedly reduced 1-year survival. Major SCI risk factors include extensive thoracic coverage, prior aortic repair, vertebral or hypogastric occlusion, emergency presentation, low perioperative mean arterial pressure, anemia, and chronic kidney disease. Postoperative delirium occurs in ~13% of TEVAR-treated type B dissections and correlates with longer hospitalization and early complications. Emerging nomograms for SCI and delirium enable individualized risk stratification. Conclusions: Neurological complications after TEVAR remain clinically significant. Contemporary evidence supports personalized prevention-selective cerebrospinal fluid (CSF) drainage, LSA revascularization, staging, neuromonitoring, and tailored hemodynamic targets-guided by anatomical complexity, comorbidities, collateral network integrity, and prior aortic history. Further research should refine prediction tools, standardize definitions, and evaluate individualized neuroprotective bundles.

Background/Objectives: Venous thromboembolism (VTE), including deep vein thrombosis (DVT) and pulmonary embolism (PE), remains a significant postoperative complication following major urologic cancer surgeries. Despite widespread use of thromboprophylaxis, the real-world effectiveness of these strategies remains uncertain. Methods: We conducted a retrospective cohort study using the American College of Surgeons National Surgical Quality Improvement Program (ACS NSQIP) database, including procedure-targeted data for radical cystectomy, radical prostatectomy, and radical nephrectomy from 2019 to 2022. Patients aged 18-90 years with complete data were included. Descriptive statistics and multivariate logistic regression analyses were performed to identify predictors of DVT and evaluate the impact of thromboprophylaxis strategies. Results: A total of 65,105 patients were analyzed: 28,805 prostatectomies, 28,414 cystectomies, and 7886 nephrectomies. The 30-day incidence of DVT and PE was 1.1% and 0.8%, respectively. Multivariate analysis identified prolonged hospital stay (>4 days), operative time (>180 min), and age > 75 years as independent predictors of DVT. Subgroup analyses confirmed these findings for cystectomy and prostatectomy but not for nephrectomy. Thromboprophylaxis was administered in 97.8% of patients; however, its use was not significantly associated with reduced DVT incidence, except for pharmacologic prophylaxis in cystectomy patients (OR 0.04, p = 0.03). Conclusions: Despite high adherence to thromboprophylaxis protocols, DVT remains a clinically relevant complication after urologic cancer surgery. Our findings highlight the importance of procedural factors in DVT risk and question the universal effectiveness of current prophylaxis strategies. These findings underscore the need for personalized, risk-stratified thromboprophylaxis protocols tailored to patient and procedural factors.

Critical closing pressure (CCP) and the vascular waterfall have long been used to explain perfusion failure in shock, yet their physiological meaning has been inconsistently interpreted. CCP is frequently treated as a continuous downstream pressure and inserted into formulas such as mean arterial pressure (MAP) - CCP, implying that a collapse threshold behaves like an opposing pressure even when vessels remain open. Drawing on classical vascular mechanics, whole-bed flow studies, microvascular models, and contemporary clinical physiology, we show that this interpretation is incorrect. Tone-dependent arteriolar collapse does not behave as a Starling resistor: CCP is a threshold at which smooth-muscle tension exceeds intraluminal pressure and vessels close, not a pressure governing flow in patent vessels. Perfusion becomes heterogeneous because different vascular beds reach their collapse thresholds at different pressures (via excessive tone, extrinsic compression, or profound hypotension), disconnecting macro-haemodynamics from microcirculatory flow. This explains why systemic variables such as MAP and systemic vascular resistance (SVR) may appear adequate even while tissues are under-perfused, a phenomenon now termed haemodynamic incoherence. Reframing CCP as a binary collapse threshold resolves longstanding contradictions in the literature, clarifies why MAP-centred targets often fail, and unifies the behaviour of shock states within a four-interface model of circulatory coupling. Therapeutically, the aim is not to "restore a waterfall" but to reopen closed vascular territories by lowering excessive tone, relieving external pressure, or raising truly low arterial inflow. This mechanistic reinterpretation provides a more coherent, physiologically grounded approach to personalised perfusion management in critical illness.

Male infertility is increasingly recognized as a complex, multifactorial disorder that extends beyond abnormalities in conventional semen parameters. A growing body of evidence highlights oxidative stress, sperm DNA fragmentation (SDF), and epigenetic alterations as tightly interconnected mechanisms contributing to sperm dysfunction and impaired fertility. Reactive oxygen species, though vital for sperm maturation and signaling, can inflict extensive genomic and chromatin damage when their levels exceed the antioxidant capacity of the testis and seminal plasma. These redox-driven lesions not only compromise fertilization potential but may also influence embryonic development and offspring health. Clinical studies and meta-analyses consistently report that elevated SDF and redox imbalance are associated with reduced pregnancy and live birth rates, particularly in assisted reproductive technologies (ARTs). The use of testicular sperm in men with high ejaculated SDF appears to improve ART outcomes, although long-term safety data remain limited. Advances in redox and genomic diagnostics, including assays for oxidation-reduction potential, SDF, and sperm epigenetic profiling, have opened new avenues for precision-based andrology, enabling targeted antioxidant, metabolic, and surgical interventions. Nonetheless, methodological variability, lack of assay standardization, and insufficient longitudinal follow-up constrain the full clinical translation of these findings. This review synthesizes evidence linking OS, SDF, and epigenetic alterations, highlighting their mechanistic crosstalk and translational relevance in the personalized management of male infertility.