Journal of Clinical Medicine最新文献

Background/Objectives: Thrombocytopenia subsequent to antineoplastic therapies leads to bleeding complications, treatment delay or de-intensification, and platelet transfusion requirement. Evidence suggests that thrombopoietin receptor agonists (TPO-RAs) can restore platelet counts in this scenario. Avatrombopag (AVA) is an oral TPO-RA whose efficacy in treating thrombocytopenia in haematological malignancy has been barely addressed. We aimed to evaluate AVA's efficacy in improving platelet recovery and reducing transfusion requirement in haematological patients with thrombocytopenia. Methods: In this retrospective observational study, haematological patients who developed thrombocytopenia persisting for ≥3 weeks and were treated with AVA between November 2023 and December 2024 were recruited. Results: Twenty-three patients were recruited. Nineteen (82.6%) responded to AVA, most within the first 4 weeks: 10 (43.5%) and 9 (39.1%) achieved platelet counts ≥ 30 × 10⁹/L (partial response) and ≥100 × 10⁹/L (complete response), respectively. Response was always maintained for 30 days after AVA withdrawal. Transfusions were significantly fewer than in the previous period: 0 (0-8) vs. 11 (2-15), median (interquartile range [IQR]), p = 0.007. Once on treatment, 13 (56.5%) patients no longer required transfusion. No patient delayed or de-intensified chemotherapy. No safety concerns were reported. Conclusions: AVA shows promise in safely reducing thrombocytopenia-associated transfusion needs in haematological malignancy.

Background/Objectives: Chronic kidney disease (CKD) is a global public health concern, posing significant diagnostic and management challenges in primary care. Estimated glomerular filtration rate (eGFR) is central to CKD staging, yet different estimating equations may yield substantially different stage classifications when applied to the same population. This study aims to compare the eGFR-based CKD stage classification and stage distribution obtained using the Chronic Kidney Disease: Epidemiology Collaboration (CKD-EPI) and Modification of Diet in Renal Disease (MDRD) equations in a large primary care cohort, and to explore the implications of these classification differences for routine use in primary healthcare (PHC). Methods: A cross-sectional analysis was conducted using standardized electronic health records from 117,055 PHC patients in the Matosinhos Health Unit, Portugal, spanning 22 years (2000-2022). CKD staging followed KDIGO guidelines and focused on stages G3-G5, based on the most recent available serum creatinine value. CKD-EPI and MDRD equations were compared overall and across age strata, BMI categories, albuminuria categories (when available), and major comorbidity subgroups, including heart failure, diabetes, and hypertension. Results: Using CKD-EPI, a higher proportion of individuals were classified as CKD stages G3-G5 (9042; 7.73%) compared with MDRD (7686; 6.57%). Classification differences were most pronounced in advanced stages (relative increase with CKD-EPI: G3b +29.4%, G4 +23.6% and G5 +34.4%). Among individuals aged ≥80 years, equation-related classification differences were particularly marked in advanced stages (G5). Similarly, CKD-EPI was associated with higher CKD stage classification rates in high-risk subgroups, including patients with heart failure. Conclusions: Compared with MDRD, CKD-EPI yields a higher proportion of individuals classified into CKD stages, particularly advanced stages and among older adults and high-risk comorbidity subgroups. These findings highlight the substantial impact of equation choice on CKD stage classification in primary care and support the use of CKD-EPI for standardized eGFR reporting, while emphasizing that observed differences reflect classification rather than confirmed CKD diagnosis.

Background: An inflammatory myofibroblastic tumor (IMT) is a rare mesenchymal tumor, sometimes with urinary bladder involvement (though this is extremely uncommon). Due to its rarity, the exact etiology and optimal treatment strategy remain unclear. Methods: A review of the existing literature on IMT of the urinary bladder was performed. Results: We report a case of a 32-year-old female presenting with frequent urination, hematuria with clots, and lower abdominal pain for one month. Initially misdiagnosed as acute cystitis, the symptoms persisted despite antibiotic therapy. Laboratory findings revealed severe anemia, and imaging studies identified a large bladder mass. Transurethral resection of the bladder tumor (TURB) was performed, and a 96 g mass was removed. Histopathological examination confirmed IMT of the urinary bladder (IMTUB) with positive immunohistochemical staining for ALK, vimentin, and actin. Follow-up at 30 months showed no recurrence, with annual cystoscopy and CT scans confirming remission. Conclusions: IMTUB should be considered in young patients presenting with hematuria and lower urinary tract symptoms. Early diagnosis through cystoscopy, imaging, and histopathological confirmation is essential for appropriate management. TURB remains the gold standard for treatment, with ALK inhibitors providing additional therapeutic options in select cases. Long-term follow-up is necessary due to the unknown malignant potential of IMTUB.

Background/Objectives: Dynamic remodeling of the zona pellucida (ZP) is a fundamental biochemical and structural process during human preimplantation development; however, its quantitative characterization and clinical relevance remain incompletely defined. The objective of this study was to evaluate dynamic ZP thinning as a functional marker of embryo developmental competence and to examine its relationship with follicular fluid (FF) biomarkers and clinical pregnancy. Methods: This prospective observational study included 47 IVF cycles performed at a single center, yielding 64 transferred blastocysts with complete time-lapse data. ZP thickness was measured from fertilization to 120 h post-fertilization using time-lapse imaging. Two quantitative parameters were derived: the relative thinning ratio (Δrel) and the linear thinning rate (slope). FF concentrations of growth differentiation factor 9 (GDF-9), hyaluronic acid (HA), and syndecan-4 (Syn4) were quantified by ELISA. Embryo-level associations with spontaneous blastocyst hatching were assessed using logistic regression and multivariate analyses, while patient-level models evaluated predictors of clinical pregnancy. Results: Embryos that underwent spontaneous hatching exhibited significantly greater Δrel than non-hatching embryos (p < 0.001). Δrel remained the strongest predictor of hatching in multivariable models (AUC = 0.91). Among FF biomarkers, only GDF-9 showed a positive association with spontaneous hatching. At the patient level, higher Δrel values of transferred embryos were associated with clinical pregnancy (OR 3.65, p = 0.009), whereas FF biomarkers and assisted hatching showed no significant association. Conclusions: Dynamic ZP thinning quantified by Δrel represents a promising indicator of embryo developmental competence. The concordance between embryo-level hatching behavior and patient-level clinical pregnancy suggests potential clinical relevance of ZP dynamics as an integrative embryological marker, warranting validation in larger cohorts.

The development of thrombocytopenia is common in cirrhosis. Further complex alterations in haemostasis also occur, resulting in a rebalanced state that predisposes patients to both thromboembolic and bleeding complications. Guidance on the management of thrombosis in patients with cirrhosis-related thrombocytopenia is limited and poses a common clinical dilemma. Anticoagulation in this population remains challenging due to altered drug pharmacokinetics, baseline abnormalities in conventional coagulation tests, limitations in laboratory monitoring, thrombocytopenia itself and concerns regarding bleeding risk. Low-molecular-weight heparin and vitamin K antagonists have traditionally been used; however, increasing data support the use of direct oral anticoagulants in patients with compensated cirrhosis. Management decisions should be individualised, incorporating liver disease severity, thrombotic burden, bleeding risk, and clinical factors such as portal hypertension. This review summarises current evidence on thromboembolic disease and antithrombotic therapy in cirrhosis-related thrombocytopenia. Further prospective studies are required to investigate key knowledge gaps, including optimal platelet thresholds for anticoagulation use and the role of functional coagulation testing in this population.

Developmental stuttering (DS) is a complex neurodevelopmental disorder affecting approximately 5% of children, characterized by involuntary disruptions in speech fluency. Despite its prevalence, the precise pathophysiology remains elusive, and current behavioral and pharmacological interventions often yield variable long-term efficacy. This scoping review evaluates the therapeutic potential of transcranial photobiomodulation (t-PBM), a non-invasive neuromodulation technique, by summarizing its mechanisms of action with the known neurophysiological deficits of DS. Evidence indicates that DS is associated with reduced regional cerebral blood flow (rCBF) in Broca's area, mitochondrial dysfunction, and impaired neural connectivity. t-PBM may address these deficits by stimulating cytochrome c oxidase, thereby increasing ATP production and triggering nitric oxide-mediated vasodilation to enhance rCBF. Furthermore, t-PBM promotes neuroplasticity, modulates astrocyte function-potentially counteracting GNPTAB-related deficits-and exhibits anxiolytic effects that may alleviate the secondary psychological burden of DS. By targeting these multifactorial underpinnings, t-PBM may represent a promising, low-risk adjunct or primary intervention for DS, though this remains to be tested empirically. While the theoretical framework is robust, clinical trials are needed to determine whether t-PBM has therapeutic utility, to optimize treatment parameters, establish longitudinal efficacy, and explore synergistic effects with established speech-language therapies.

The influence of gaseous components of tobacco smoke, e-cigarettes, and air pollutants on the development of glomerulonephritis has been the subject of numerous studies in recent years. Glomerulonephritis (GN) often leads to progressive kidney damage and chronic kidney disease (CKD), which is a global health problem. Genetic and autoimmune factors have been shown to contribute to their development. Yet, increasing attention is being given to environmental and lifestyle-related risk factors. This paper summarizes how specific substances found in tobacco smoke, e-cigarette smoke, and air pollutants contribute to the development and progression of GN. Particular emphasis is placed on substances such as formaldehyde, heavy metals, and particulate matter, which have been shown to trigger oxidative stress, immune dysregulation, and endothelial dysfunction. A clear understanding of the contributions of those agents to kidney inflammation is crucial for developing preventive strategies and improving public health awareness. We also highlight gaps in current research and suggest directions for future investigation. Understanding consequences of cigarette smoking should be promoted to encourage people to reduce their exposure to cigarette smoke, which could prevent many diseases.

Objective: Takotsubo syndrome (TTS) is an acute form of heart failure characterized by transient left ventricular systolic dysfunction. Given the complex cardiohepatic interactions observed in heart failure, this study aimed to evaluate the prognostic significance of hepatic T1 mapping in patients with TS. Materials and Methods: In this retrospective pilot study, cardiovascular magnetic resonance (CMR) including hepatic T1 mapping was performed in 66 consecutive patients with TTS (60 females; mean age 70.96 ± 10.11 years). The median duration of long-term follow-up was 7 months (interquartile range, 2-16 months). The primary endpoint was a composite of out-of-hospital all-cause mortality and major cardiovascular or cerebrovascular adverse events, including heart failure hospitalization, TTS recurrence, and ischemic stroke. Results: During the median follow-up period of 7 months, 12 (18%) patients experienced the primary endpoint. Kaplan-Meier analysis revealed a significantly lower event-free survival in patients with higher hepatic T1 values (log-rank, p = 0.001). In multivariable Cox regression analysis, hepatic T1 mapping emerged as an independent predictor of adverse outcomes (HR 1.010; 95% CI 1.002-1.017, p = 0.010). Conclusions: Elevated hepatic T1 mapping values were independently associated with an increased risk of adverse cardiovascular events during follow-up. Incorporating hepatic T1 mapping into the clinical evaluation of patients with TTS may improve risk stratification and support more personalized management strategies.

Background: Accurate vertebral instance segmentation on full-spine radiographs is essential for spinal parameter assessment, but supervised methods require costly instance-level annotations and may be sensitive to domain shift. Methods: We investigated whether promptable segmentation foundation models can generalize zero-shot to raw DICOM spine radiographs without task-specific training. We evaluated SAM-ViT-Huge, SAM2-Hiera-Large, and MedSAM-ViT-Base on 144 full-spine radiographs with 1309 annotated vertebral masks using a standardized pipeline for DICOM decoding, intensity normalization, automatic prompt generation, and instance-level evaluation. For each prompt, models produced three candidate masks. Performance was reported under an oracle protocol selecting the candidate with the highest IoU against ground truth and a model-score protocol selecting the candidate with the highest predicted IoU. Metrics included IoU, Dice, precision, recall, ASSD, and HD95. Results: The best configuration was SAM-ViT-Huge with rectangle prompting, reaching a mean IoU/Dice of 0.782/0.870 under oracle selection and 0.737/0.837 under model-score selection. SAM2-Hiera-Large with rectangle prompting followed (0.744/0.848 oracle; 0.699/0.815 model-score), ahead of MedSAM-ViT-Base (0.599/0.737 oracle; 0.387/0.499 model-score). Point prompting yielded consistently low overlap (IoU 0.224-0.319; Dice 0.276-0.414) despite high recall, indicating systematic over-segmentation and large boundary errors. Conclusions: Zero-shot vertebral instance segmentation on raw DICOM spine radiographs is feasible with promptable foundation models when prompts sufficiently constrain target extent. Rectangle prompting is clearly more effective than point prompting in this setting.

According to the Global Burden of Disease 2019 analysis, there were 606,300 new cases of chronic kidney disease due to glomerulonephritis worldwide, with 17.3 million prevalent cases and 183,700 deaths More interestingly, between 1990 and 2019, the global burden of glomerulonephritis increased by 77% in incidence and 81% in prevalence, mainly due to demographic aging and population growth. Among primary glomerulopathies, IgA Nephropathy (IgAN), also known as Berger's disease, is the most common primary glomerulopathy worldwide, with significant geographic and ethnic variation in incidence, with the highest prevalence in Europe and Asia and the lowest in Africa. Its pathogenesis reflects a complex interaction between polygenic susceptibility and environmental modifiers, mucosal immune activation, infections of the upper respiratory and gastrointestinal tracts, dietary factors, and alterations in the gut microbiome. In addition, IgAN increasingly coexists with other chronic diseases, such as hypertension and diabetes, which complicates both diagnosis and treatment in aging societies. All these observations suggest that in the coming years, the epidemiology of IgAN will gradually transform from a description of "case counts" to a predictive tool that integrates genetic, environmental, and molecular biomarker data. In this sense, epidemiology is increasingly becoming the foundation of precision nephrology-allowing not only for disease risk prediction but also for the design of effective therapeutic strategies. The conceptual shift in IgAN-from a disease defined by biopsy prevalence to one understood through integrative epidemiology-illustrates the broader transition of GN research toward biomarker-based risk stratification and precision medicine. This review focuses on IgA nephropathy as the most prevalent primary glomerulonephritis and uses it as a reference disease to illustrate broader epidemiological patterns, outcome trajectories, and methodological limitations relevant to primary glomerulonephritides.