Journal of Clinical Medicine最新文献

Background: Primary Biliary Cholangitis (PBC) requires early diagnosis and specialized management to prevent progression to cirrhosis. This study evaluates the awareness levels of Turkish physicians from various specialties regarding the clinical features, diagnostic criteria, and current treatment protocols of PBC. Methods: A multi-regional cross-sectional survey was conducted with 269 physicians across Türkiye. Knowledge levels were assessed through a 28-item instrument covering epidemiology, diagnosis and therapy. Data distribution was non-normal (Skewness: -1.296, Kurtosis: 2.857), necessitating the use of the Kruskal-Wallis H test and Dunn-Bonferroni post hoc procedure for inter-group comparisons. Internal consistency was confirmed with a Cronbach's alpha of 0.80. Results: The overall mean awareness score was 62.6%. Item-level analysis revealed a near-universal understanding of the non-mandatory role of liver biopsy in diagnosis (99.1%) yet identified a critical knowledge gap regarding second-line therapies, particularly the use of steroids (6.8%). Significant disparities were observed among specialties (p < 0.001). Gastroenterologists (Median: 91.07%) and gastroenterology fellows (Median: 85.71%) exhibited significantly higher proficiency compared to general practitioners (64.29%) and family medicine residents (67.86%). Internal medicine specialists outperformed primary care providers, while no significant differences were found among other subgroups after Bonferroni adjustment. Conclusions: Professional specialization is the primary determinant of PBC awareness. While core diagnostic knowledge is stable, significant gaps exist in pharmacological management among non-specialists. Targeted medical education for primary care physicians is essential to ensure timely referral and optimize patient outcomes.

Congenital dyserythropoietic anaemia type-I (CDA-I) is a rare autosomal recessive disease characterised by ineffective erythropoiesis, haemolysis and non-haematological developmental abnormalities. Its treatment is multifactorial, including the management of anaemia, iron overload and prevention of osteoporosis. The only treatment specific to CDA-I is subcutaneous interferon alpha (IFNα) 2A. This study presents the first summary of all published cases of CDA-I patients (n = 33) treated with IFNα and categorises their outcome. We also present new unpublished cases (n = 7). Overall, we find that IFNα administration causes a statistically significant mean increase in haemoglobin of 30.7 g/L (p < 0.001). However, we note that previous studies do not assess the impact of IFNα therapy on providing symptomatic benefit to patients with CDA-I, or the weight of side effects on their quality of life. We collaborate directly with patients through the organisation Congenital Anaemia Network to establish patient preferences regarding IFNα treatment. We propose a classification framework for the use of IFNα in CDA-I that includes patient-reported outcome measures in addition to grading response according to changes in Hb levels. We believe that the use of this framework will aid standardisation in measuring response to therapy, improve clinical practice and assist in future research.

Diabetes is known to affect metabolic, vascular, and nervous systems, although its influence on auditory function in children remains poorly defined. Understanding this association is essential due to its implications for cognitive, language, and social development. Numerous studies have found that children with Type 1 Diabetes Mellitus (T1DM) exhibit higher hearing thresholds at high frequencies (4000-8000 Hz) and lower speech understanding scores compared to healthy controls. Poor glycemic control and longer disease duration are consistently associated with worse auditory outcomes. The proposed mechanisms include microangiopathy and diabetic neuropathy affecting the auditory pathway. Many affected children do not report noticeable auditory symptoms, indicating a risk of underdiagnosis. Early identification is crucial, as hearing difficulties in children may be related to underlying diabetic conditions and are likely associated with poor glycemic control. Regular audiometric screening should be incorporated into the routine care of pediatric diabetes patients to identify hearing deficits before they affect communication and cognitive development.

Background: Stroke and subclinical cerebral ischemia remain important neurological complications of transcatheter aortic valve replacement (TAVR). The Sentinel cerebral embolic protection (CEP) device is designed to capture embolic debris during TAVR, but its impact on clinical and imaging outcomes remains incompletely characterized. Methods: PubMed, Embase, and Cochrane databases were systematically searched for randomized controlled trials (RCTs) comparing Sentinel CEP versus no protection when TAVR was performed. Outcomes of interest included all stroke, disabling stroke, infarct volume by diffusion-weighted MRI in protected and unprotected areas, all-cause mortality, acute kidney injury, and major vascular complications. Risk ratios (RRs) and median differences with 95% confidence intervals (CIs) were calculated using random-effects models and trial sequential analysis (TSA) assessed evidence robustness. Results: Four RCTs including 10,986 patients were analyzed. Sentinel CEP did not significantly reduce clinical stroke (RR 0.88, 95% CI 0.69-1.12) or disabling stroke (RR 0.68, 95% CI 0.41-1.14). Pooled DW-MRI data showed a significant reduction in new ischemic lesion volume within Sentinel CEP-protected territories (difference in medians -75.7 mm³; 95% CI -130.4 to -21.0). Subgroup analyses in elderly, female, and high-surgical-risk patients revealed no benefit with Sentinel CEP. Additionally, TSA indicated that current data are underpowered for definitive conclusions. Conclusions: The Sentinel CEP device during TAVR did not significantly reduce clinical stroke but was associated with lower MRI-detected ischemic lesion volumes compared with no protection. Further adequately powered RCTs integrating clinical and imaging endpoints are needed to define its role in neuroprotection during TAVR.

Background/Objectives: In recent decades, new technologies have been progressively integrated into various areas of mental health care. Mobile applications are potentially effective tools that allow psychiatric patients themselves to access self-management resources and tools within the community setting. Mental health nursing plays a key role in enabling patients to take an active role in their care and in promoting activities that foster their involvement and empowerment. The primary aim of this pilot study was to develop the PsyAPP mobile application to support both nurses and individuals with mental illness in managing care and improving health outcomes, and to assess its feasibility within a real-world clinical setting. Methods: A mobile application (PSYAPP) and a complementary web-based nursing management platform were designed and implemented. A total of 20 psychiatric patients enrolled in a partial hospitalization program in Soria (Spain) participated. Participants were assigned to experimental (app users) and control groups. Psychological empowerment, global functioning, and suicide risk were assessed before and after the intervention. Results: Patients who used the application showed significantly greater psychological empowerment (W = 2.04, p ≤ 0.04) compared with the control group. Statistically significant improvements were observed in psychological, social, and occupational functioning. Regarding suicide risk, no statistically significant changes were detected between pre- and post-intervention measurements in either group. Overall, PSYAPP demonstrated feasibility and potential utility as an innovative tool to support mental health care follow-up. Conclusions: This study developed and implemented a mobile application designed to enhance mental health care by supporting both patients and psychiatric nurses. Results showed significant improvements in global functioning in both the app and control groups, suggesting that rehabilitative treatment contributed to overall progress. Suicide risk did not significantly change within groups, although improvements were seen in the full sample, likely due to clinical care rather than app use. Only the experimental group demonstrated increased psychological empowerment, indicating that the app may effectively enhance patient engagement and involvement in their own care.

Background/Objectives: Recent public and scientific discussions have raised concerns about a possible link between prenatal paracetamol exposure and autism spectrum disorder (ASD). However, pharmacovigilance-based evidence remains scarce, and the role of reporting bias has not been systematically assessed. This study aimed to characterize ASD-related adverse event reports involving paracetamol in the U.S. Food and Drug Administration's Adverse Event Reporting System (FAERS) and to evaluate potential disproportionality signals, considering demographic, temporal, and geographic patterns. Methods: FAERS data from January 2010 to September 2025 were screened for reports listing paracetamol as the suspect drug and ASD-related Preferred Terms. After excluding duplicates and concomitant drugs, 1776 unique cases were analyzed. Patient demographics, reporter type, and country of origin were summarized descriptively. Disproportionality was calculated using four algorithms: Reporting Odds Ratio (ROR), Proportional Reporting Ratio (PRR), Information Component (IC), and Empirical Bayes Geometric Mean (EBGM). Results: Among 172,129 paracetamol-associated reports, 1776 (1.03%) included ASD-related terms. All were classified as serious and mostly submitted by consumers (98.6%). Gender was available in 47.7% of cases, showing male predominance (68.8%). Most reports referred to fetal exposure during pregnancy. Nearly all originated from the United States (98.4%). A marked rise was observed after 2022, with 562 reports in 2023 and 1051 in 2025. Disproportionality analyses revealed consistently elevated signals (ROR = 69.8, PRR = 69.2, IC025 = 5.60, EB05 = 48.3). Conclusions: The strong disproportionality signal likely reflects increased public attention and reporting dynamics rather than a causal association. Further integration of pharmacovigilance and epidemiologic data is warranted to clarify the clinical significance of these findings.

Background/Objectives: Sepsis detection remains challenging due to clinical heterogeneity and limitations of traditional scoring systems. This study developed and validated a hospital-wide machine learning model for sepsis detection using retrospectively developed data from prospectively expert-validated cases, aiming to improve diagnostic accuracy beyond conventional approaches. Methods: This retrospective cohort study analysed 218,715 hospital episodes (2014-2018) at a tertiary care centre. Sepsis cases (n = 11,864, 5.42%) were prospectively validated in real-time by a Multidisciplinary Sepsis Unit using modified Sepsis-2 criteria with organ dysfunction. The model integrated structured data (26.95%) and unstructured clinical notes (73.04%) extracted via natural language processing from 2829 variables, selecting 230 relevant predictors. Thirty models including random forests, support vector machines, neural networks, and gradient boosting were developed and evaluated. The dataset was randomly split (5/7 training, 2/7 testing) with preserved patient-level independence. Results: The BiAlert Sepsis model (random forest + Sepsis-2 ensemble) achieved an AUC-ROC of 0.95, sensitivity of 0.93, and specificity of 0.84, significantly outperforming traditional approaches. Compared to the best rule-based method (Sepsis-2 + qSOFA, AUC-ROC 0.90), BiAlert reduced false positives by 39.6% (13.10% vs. 21.70%, p < 0.01). Novel predictors included eosinopenia and hypoalbuminemia, while traditional variables (MAP, GCS, platelets) showed minimal univariate association. The model received European Medicines Agency approval as a medical device in June 2024. Conclusions: This hospital-wide machine learning model, trained on prospectively expert-validated cases and integrating extensive NLP-derived features, demonstrates superior sepsis detection performance compared to conventional scoring systems. External validation and prospective clinical impact studies are needed before widespread implementation.

Background: Veno-venous extra-corporeal membrane oxygenation (ECMO) cannulations are mostly performed while patients are heavily sedated and mechanically ventilated. For patients with acute respiratory distress syndrome (ARDS), cannulating for ECMO while awake and spontaneously breathing, as well as treating without sedation and mechanical ventilation, has potential advantages. This study aimed to compare clinical outcomes between patients cannulated for ECMO while awake and patients cannulated while sedated and mechanically ventilated. Methods: A retrospective multicenter study. Data were accessed from the Israeli ECMO registry of patients with COVID-19-induced ARDS treated at eight ECMO centers in Israel. The study group comprised 24 patients who were cannulated while awake and spontaneously breathing. A control group comprised 96 patients who were cannulated after sedation and mechanical ventilation, matched 1:4 by age, sex, and body mass index. The primary outcome was six-month survival. Secondary outcomes were: the duration of ECMO therapy, the duration of invasive mechanical ventilation-free ECMO therapy, and the duration of invasive mechanical ventilation. Results: The mean age was 52 + 11 years; 78% were males. Fifteen patients (63%) in the study group were eventually intubated. The mean durations on ECMO and in the intensive care unit did not differ between the groups. The study group had a higher six-month survival (75% vs. 49%, p = 0.02) and fewer infectious complications such as pneumonia or bacteremia (21% vs. 40%, p < 0.001) compared to the control group. After adjusting for PO₂/FiO₂ ratio and for the COVID-19 variant, the hazard ratio was 0.45 (C.I 0.19-1.06, p = 0.069). Conclusions: Awake VV-ECMO cannulation in COVID-19-induced ARDS is feasible in selected patients and was associated with higher survival in unadjusted analyses. However, after adjustment for key covariates, this association was attenuated and did not reach statistical significance.

Background: Evidence guiding secondary repair of persistent full-thickness macular holes (FTMHs) remains limited and heterogeneous. Temporal arcuate relaxing retinotomy has been described as a salvage maneuver intended to increase temporal retinal compliance, yet functional safety data are scarce. We report consecutive real-world outcomes of temporal arcuate relaxing retinotomy for persistent FTMHs after failed standard repair(s). Methods: Retrospective consecutive case series of patients with persistent FTMH after ≥1 pars plana vitrectomy (PPV) with internal limiting membrane (ILM) peeling, treated with repeat PPV and temporal arcuate relaxing retinotomy. Outcomes included OCT (Optical Coherence Tomography)-confirmed closure after gas absorption and best-corrected visual acuity (BCVA, logMAR), ellipsoid zone (EZ) status, retinotomy-site morphology on OCT/fundus autofluorescence (FAF), and safety/functional outcomes (systematic scotoma symptom inquiry; Humphrey visual field testing when feasible). Exact binomial 95% confidence intervals (CI) were calculated for proportions. Results: Nine eyes (median age 70 years; range 55-76) underwent temporal arcuate relaxing retinotomy for persistent FTMH. Minimum linear diameter ranged 412-1037 µm (median 613 µm). OCT-confirmed closure was achieved in 7/9 eyes (77.8%; 95% CI 40.0-97.2) at a mean follow-up of 5.9 months (range 2-12). BCVA improved in 8/9 eyes (88.9%; 95% CI 51.8-99.7); mean BCVA improved from 1.26 ± 0.51 logMAR pre-operatively to 0.61 ± 0.18 logMAR at last follow-up (mean change -0.64 logMAR; Wilcoxon signed-rank test p = 0.011). As a sensitivity analysis, the paired t-test yielded p = 0.008. Humphrey visual fields were obtained in 6/9 eyes; one patient reported a new paracentral nasal scotoma, which was subjectively well tolerated. Conclusions: In this small consecutive series, temporal arcuate relaxing retinotomy was associated with a 78% closure rate and mean BCVA improvement in eyes with persistent FTMH after failed standard repair(s), with limited symptomatic scotoma reporting in those assessed. Given the retrospective design, small cohort, and incomplete standardized functional testing, larger comparative studies with uniform functional endpoints (microperimetry, RNFL/GCL metrics, and systematic perimetry) are needed to define patient selection, reproducibility, and relative performance versus contemporary salvage options.