Diagnostics最新文献

Background: Periorbital tumors represent a diagnostic challenge due to overlapping clinical and histopathological features. Case presentation: We present the case of a 57-year-old female with a recurrent left lower eyelid lesion initially diagnosed as malignant melanoma. Over a seven-year course, the patient underwent multiple surgical excisions, radiotherapy, systemic therapies, and repeated imaging. Histopathological findings alternated between melanoma, neuroma, hybrid peripheral nerve sheath tumor, and ultimately neurofibroma (NF1). Immunohistochemical staining repeatedly demonstrated positivity for S100 and SOX10, with variable expression of melanocytic markers, underscoring the diagnostic ambiguity between desmoplastic melanoma and NF. Despite multiple interventions, including Pembrolizumab therapy and orbital exenteration, tumor progression persisted. This case highlights the considerable difficulty in distinguishing melanoma from neurofibroma in the periorbital region, particularly when histological and immunohistochemical profiles overlap. Conclusions: Accurate diagnosis requires a multidisciplinary approach, repeated reassessment, and awareness of rare presentations. Our report emphasizes the importance of integrating clinicopathological data and selected molecular diagnostics to optimize management of such complex cases.

Background: Metabolic dysfunction-associated steatotic liver disease (MASLD), previously known as non-alcoholic fatty liver disease (NAFLD), is increasingly prevalent in children. However, reliable noninvasive diagnostic tools remain limited. The hepatorenal index (HRI) has been proposed as a quantitative ultrasound method to assess hepatic steatosis. This study aims to evaluate the diagnostic accuracy of HRI in detecting pediatric MASLD. Methods: A systematic review and meta-analysis were conducted on 13 September 2025, following PRISMA-DTA guidelines, with the protocol registered in PROSPERO (CRD420251146939). MEDLINE, PubMed, Cochrane Library, ScienceDirect, and Google Scholar were searched. Studies that assessed HRI against reference standards (MRI-PDFF or liver biopsy) in pediatric MASLD were included. Pooled diagnostic parameters were estimated using a bivariate random-effects model, with heterogeneity evaluated by I² statistics and publication bias by funnel plot asymmetry. Results: Four studies involving 194 pediatric patients (47.9% MASLD), mostly male (57.7%), met the inclusion criteria. The suggested HRI cut-off varies from ≥1.215 to 1.99. The pooled sensitivity and specificity were 90% (95% CI 70-97) and 84% (95% CI 73-92), respectively, with an AUC of 0.91 (95% CI 0.88-0.93). Positive and negative likelihood ratios were 6 and 0.12, corresponding to post-test probabilities of 32% and 1%, respectively. No significant publication bias or heterogeneity was detected. Conclusions: Although HRI demonstrates strong diagnostic performance, it currently lacks sufficient discriminatory power to definitively confirm or exclude MASLD in pediatric populations and should therefore be regarded as a supportive rather than definitive diagnostic tool pending further high-quality validation studies.

Background: Pancreaticopleural fistula is a rare complication of chronic pancreatitis resulting from pancreatic duct disruption, typically presenting with pleural effusion and predominant respiratory symptoms. Bilateral pleural involvement is exceptionally uncommon and poses significant diagnostic and therapeutic challenges. Case Presentation: A 56-year-old man with a history of chronic alcohol abuse presented with progressive dyspnea and mild epigastric pain. Imaging revealed bilateral pleural effusions, an atrophic pancreas with a markedly dilated main pancreatic duct containing calculi, and a fistulous tract extending from the pancreatic body through the esophageal hiatus into the mediastinum. Magnetic resonance cholangiopancreatography confirmed the diagnosis of chronic calculous pancreatitis complicated by a pancreaticopleural fistula. After unsuccessful conservative management, the patient underwent distal pancreatectomy, resection of the fistulous tract, and Roux-en-Y pancreatojejunostomy. The postoperative course was uneventful, with complete resolution of pleural effusions and sustained clinical improvement. Conclusions: This case highlights the importance of considering pancreaticopleural fistula in patients with unexplained pleural effusions and minimal abdominal symptoms, particularly in the context of chronic pancreatitis. Bilateral involvement, although rare, should not preclude timely diagnosis. Appropriate diagnostic studies by computed tomography, magnetic resonance imaging, and magnetic resonance cholangiopancreatography are crucial for establishing the diagnosis. Surgical management offers definitive treatment in patients with ductal obstruction and calculous disease, resulting in excellent long- term outcomes.

Background/Objectives: Dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) are common cardiomyopathies associated with heart failure. Electrocardiogram (ECG) screening before an echocardiogram could help streamline diagnosis, particularly in rural areas. Prior ECG-machine learning (ML) studies do not use open-source data when studying cardiomyopathy, and very few proprietary studies directly compare HCM and DCM or address ECG differences within obstructive (HOCM) and non-obstructive HCM (HNCM). Methods: Standard and vectorcardiogram-derived (VCG) ECG features were extracted from the MIMIC-IV-ECG database. The final cohort comprised 599 patients (HCM = 208 [HOCM = 99, HNCM = 53, unknown = 56]; DCM = 391 [ischemic cardiomyopathy with left ventricular dilation = 250, non-ischemic = 141]). Logistic regression (LR) and extreme gradient boosting (XGBoost) with five-fold cross-validation separated HCM from ischemic cardiomyopathy with left ventricular dilation (DCM-I) and non-ischemic DCM (DCM-NI), and HOCM from HNCM. Results: Using the area under the receiver-operating-characteristic curve (AUC-ROC) as the performance metric, LR achieved high discrimination of HCM from DCM-I (0.92) and DCM-NI (0.90). However, differentiating HOCM from HNCM proved more difficult (XGBoost = 0.81; LR = 0.75). Both DCM subtypes (especially ischemic) showed lower QRS amplitudes and right-posterior ventricular gradient orientation; HCM displayed higher amplitudes and larger, more complex T-loops. Within HCM, HOCM had stronger leftward electrical activity and more dipolar to non-dipolar QRS energy after singular value decomposition. Conclusions: Using only open-access data, we demonstrate an interpretable ECG-based pipeline that discriminates cardiomyopathy and highlights distinct features. While detecting obstruction remains difficult, ECG features provide measurable separation, supporting possible diagnostic screening and offering a reproducible framework for future studies.

Background and Clinical Significance: Extrapulmonary tuberculosis (TB) remains a diagnostic challenge, particularly when affecting rare sites such as the oral cavity and digestive tract. We report the case of a 55-year-old woman with disseminated (miliary) tuberculosis presenting with atypical oral lesions initially suspected to represent a malignant tumor. Case Presentation: The patient had a history of recurrent depressive disorder, cognitive impairment, sleep disturbances, and nicotine/alcohol dependence. She presented with painful ulcerations of the oral cavity, dysphagia, odynophagia, and glossodynia. Otolaryngologic examination revealed reduced tongue mobility and an ulceroinfiltrative lesion involving the floor of the mouth and the lower alveolar ridge. Fibroscopic evaluation confirmed infiltrative ulcerative lesions, and biopsy samples were obtained. Histopathologic examination revealed a chronic necrotizing granulomatous inflammation with multinucleated giant cells, consistent with a mycobacterial infection. Further investigations confirmed disseminated (miliary) tuberculosis with oral and digestive involvement. Antituberculous therapy was initiated; however, despite temporary stabilization, the patient's condition progressively worsened and the outcome was fatal. Conclusions: Oral and digestive tuberculosis, although rare, should be considered in the differential diagnosis of ulceroinfiltrative lesions of the oral cavity, particularly in patients with systemic symptoms or risk factors for TB. Early histopathologic confirmation and initiation of specific therapy are essential for favorable outcomes and prevention of misdiagnosis as malignant disease.

Background/Objectives: Tuberculosis and COVID-19 are two major infectious diseases with significant inflammatory and immunological impact on infected hosts and both conditions are independently associated with a prothrombotic state. However, evidence regarding their combined effect on in-hospital thrombotic risk remains limited. In this study, we aimed to explore whether patients with tuberculosis and COVID-19 coinfection are at a higher risk of developing thrombotic events during hospitalization than patients diagnosed with tuberculosis alone. Materials and Methods: We performed a retrospective, single-center cohort study, including adults hospitalized at the Pulmonology Clinic, Adult Tuberculosis ward of Mures County Clinical Hospital, between 2021 and 2023. Two groups were analyzed: patients with pulmonary tuberculosis who developed COVID-19 during hospitalization (n = 40) and patients with pulmonary tuberculosis without documented SARS-CoV-2 infection (n = 40). Demographic, clinical, laboratory, and imaging data were extracted from medical records. Padua and IMPROVE-DD scores were calculated retrospectively, a rapid mini-score was evaluated exploratorily. Comparisons between groups were performed using appropriate statistical tests and unadjusted odds ratios (ORs) with 95% confidence intervals (CIs) were reported. Given the limited number of events, an age-adjusted Firth penalized logistic regression model was used for multivariable analysis. Results: Thrombotic events occurred more frequently in the tuberculosis and COVID-19 co-infection group (22.5% vs. 10%), although statistical significance was not reached (p = 0.22; OR = 2.61). Patients with coinfection had significantly higher proportions of elevated Padua scores (55% vs. 20%, p = 0.002; OR = 4.88), while IMPROVE-DD showed values near the conventional threshold for statistical significance (37.5% vs. 17.5%, p = 0.07). D-dimer values did not reach statistical significance (p = 0.07) and platelet counts were significantly higher in patients with tuberculosis only (p = 0.001). Mortality did not differ significantly between groups (15% vs. 10%, p = 0.73). In age-adjusted multivariable analysis, tuberculosis and COVID-19 coinfection remained associated with higher odds of thrombotic events, with wide confidence intervals. Conclusions: Patients with concomitant tuberculosis and COVID-19 showed a higher thrombotic risk profile (Padua score) and numerically higher rates of in-hospital thrombotic events, without reaching statistical significance. Findings should be interpreted as exploratory and hypothesis-generating. Larger prospective studies with systematic imaging and multivariable adjustment are needed.

Primary Objective: To characterize high-resolution computed tomography (HRCT) fracture patterns, namely orientation and otic capsule status, among Sudanese patients with acute temporal bone trauma. Secondary Objectives: (i) To quantify the prevalence and pattern of concomitant craniofacial fractures, (ii) to describe early audiologic outcomes, and (iii) to document facial nerve dysfunction. Methods: Prospective cross-sectional study of 45 consecutive patients (≥5 years) with HRCT-confirmed TBF sustained within 7 days of injury, managed at two tertiary otolaryngology centers in Khartoum (October 2022-March 2023). All imaging, clinical, and audiologic variables were recorded once at the index presentation (≤7 days after trauma); the study did not include longitudinal follow-up. Two blinded experts independently classified fracture orientation (longitudinal, transverse, mixed/oblique), otic capsule status (sparing [OCS] vs. otic capsule-violating [OCV]), and ancillary HRCT signs (ossicular chain disruption, tympanic plate fracture, pneumolabyrinth/CSF leak); inter-observer reliability was assessed with Cohen's κ. Concomitant craniofacial fractures, pure-tone audiometry, and House-Brackmann facial nerve grades were recorded. Predictor-outcome associations were examined with χ² statistics (p < 0.05). Results: Mean age 35.9 ± 17.4 years; 78% male. Road traffic accidents were associated with 58% of injuries. HRCT showed 60% longitudinal, 20% transverse, and 20% mixed/oblique fractures; 27% were OCV. Ossicular chain disruption, tympanic plate fracture, and ppneumolabyrinthCSF leak were present in 17.8%, 13.3%, and 8.9%, respectively. Concomitant craniofacial fractures occurred at 27%, chiefly Lefort III (15.6%) and Lefort II (8.9%). Transverse/mixed fractures were strongly associated with Lefort II-III injuries (χ² = 16.2, p = 0.001); age (p = 0.21) and sex (p = 0.08) were non-significant. Conductive, sensorineural, and mixed hearing loss affected 69%, 13%, and 18%; facial nerve palsy occurred in 58%. Inter-observer agreement was substantial to almost perfect for all imaging variables (κ = 0.77-0.92). Conclusions: Although longitudinal fractures predominated, over one-quarter breached the otic capsule and one-fifth followed transverse/mixed planes, configurations associated with higher odds of conductive deafness, facial nerve palsy, and complex mid-facial fractures. HRCT provides reliable characterization and should underpin comprehensive head-and-mid-face trauma protocols. Enhanced road safety policies and multidisciplinary trauma care are vital for reducing neuro-otologic morbidity in resource-limited settings.

Prostatitis includes infectious and noninfectious inflammatory phenotypes that can impair male reproductive potential and may influence couple-level reproduction via seminal inflammatory and microbial exposure. This review summarizes mechanisms linking prostatic inflammation and dysbiosis to semen dysfunction and sperm DNA damage and proposes an infertility-oriented diagnostic and management framework. This is a narrative review of clinical and translational evidence addressing semen inflammation, oxidative stress, sperm DNA fragmentation (SDF), microbiome signatures, and reproductive outcomes in prostatitis (National Institutes of Health (NIH) categories I-IV). Across prostatitis phenotypes, leukocytospermia and elevated seminal cytokines (especially interleukin-8) are associated with impaired motility, altered viscosity and liquefaction, oxidative stress, and higher SDF. Persistent infection or dysbiosis may sustain immune activation and redox injury, while ductal remodeling and pain-related sexual dysfunction can further reduce natural conception. Seminal cytokines and microbes may affect female reproductive tract biology, although clinical outcome data remain limited. Prostatitis-related infertility requires evaluation beyond routine semen analysis. A biomarker-guided workup integrating inflammatory markers, oxidative stress testing, targeted microbiology (culture plus nucleic acid amplification tests when indicated), SDF testing in selected men, and imaging when obstruction is suspected can identify treatable drivers and guide timing and selection of assisted reproduction strategies. Future studies should standardize fertility endpoints and validate biomarker-guided and microbiome-directed interventions.

Background/Objectives: The human larynx exhibits marked sexual dimorphism and undergoes age-related structural remodeling, both of which influence voice characteristics and have important implications for diagnostic assessment. While sex-related differences in laryngeal size are well recognized, the extent to which aging contributes to dimensional versus qualitative structural changes remains incompletely defined. This study aimed to analyze sex- and age-related morphometric and histological characteristics of the human larynx, with a focus on features relevant to voice evaluation and diagnostic interpretation. Methods: A cross-sectional anatomical study was conducted on 80 cadaveric human larynges preserved in 10% buffered formalin. Specimens were stratified by sex and age (<30, 30-60, and ≥60 years). Direct morphometric measurements included anteroposterior laryngeal length, thyroid cartilage height, thyroid angle, and relative glottic area. Epiglottic morphology and the presence of laryngeal cartilage calcification/ossification (binary classification: present vs. absent) were recorded. Histological analysis of vocal fold tissue was performed on a stratified subset of specimens. Statistical analysis included t-tests, chi-square tests, two-way ANOVA, effect size estimation, and logistic regression. Results: Male specimens showed significantly greater anteroposterior length, thyroid cartilage height, and relative glottic area, along with a narrower thyroid angle, compared with females (all p < 0.001), with large effect sizes. Age did not significantly influence overall laryngeal dimensions. In contrast, cartilage calcification/ossification increased markedly after the age of 60. Logistic regression identified age ≥ 60 years as the only independent predictor of calcification (OR = 4.37, p = 0.039), while sex was not significant. Epiglottic morphology demonstrated a sex-dependent distribution. Histology revealed age-related muscle atrophy and reduced collagen and elastin density. Conclusions: Sex defines the baseline morphometric framework of the adult larynx, whereas aging, particularly beyond 60 years, drives qualitative structural degeneration. These findings provide a reproducible anatomical reference for distinguishing sex-related variation from age-related changes in diagnostic assessment.

Cholestasis encompasses a broad spectrum of hepatobiliary disorders characterized by impaired bile formation or flow. Historically classified based on clinical onset and severity, the landscape of cholestatic liver disease has been revolutionized by the advent of high-throughput genomic technologies. This review elucidates the critical role of genetics in redefining the pathophysiology, diagnosis, and management of cholestasis, framing pediatric Progressive Familial Intrahepatic Cholestasis (PFIC) and Adult-Onset Cholestatic Disease (AOCD) as a continuous phenotypic spectrum. We discuss the expansion of the molecular nosology to include 13 distinct PFIC types, highlighting how defects in canalicular transporters, tight junctions, and nuclear receptors underpin clinical heterogeneity. Furthermore, we examine the paradigm shift in the diagnostic flowchart, where Next-Generation Sequencing (NGS) has largely superseded liver biopsy for etiological definition. Finally, we address the therapeutic implications of this molecular precision, demonstrating how specific genotypes dictate eligibility for novel targeted therapies, such as IBAT inhibitors, marking the transition from supportive care to personalized medicine.