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Enhanced pathogen identification among patients with clinically suspected meningitis.
S Afr J Infect Dis
December 2024
Division of Medical Microbiology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
Background: Delayed or incorrect treatment of meningitis may result in adverse patient outcomes. However, laboratory testing in resource-limited settings is often limited to conventional diagnostic methods. We explored the utility of syndromic molecular assays for diagnosis.
View Article and Find Full Text PDFSpatial and Temporal Tumor Heterogeneity in Gastric Cancer: Discordance of Predictive Biomarkers.
J Gastric Cancer
January 2025
Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Gastric cancer (GC) is a highly heterogeneous disease that varies in both histological presentation and genetic characteristics. Recent advances in the treatment of metastatic and unresectable GC have made several biomarker tests essential for patient management. Predictive biomarkers such as human epidermal growth factor receptor 2 (HER2), programmed death-ligand 1 (PD-L1), mismatch-repair (MMR) proteins, claudin 18.
View Article and Find Full Text PDFMolecular characterization of EBV-associated primary pulmonary lymphoepithelial carcinoma by multiomics analysis.
BMC Cancer
January 2025
Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, China.
Background: Primary pulmonary lymphoepithelial carcinoma (pLEC) is a subtype of non-small cell lung cancer (NSCLC) characterized by Epstein-Barr virus (EBV) infection. However, the molecular pathogenesis of pLEC remains poorly understood.
Methods: In this study, we explored pLEC using whole-exome sequencing (WES) and RNA-whole-transcriptome sequencing (RNA-seq) technologies.
Griscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.
Turk J Pediatr
November 2024
Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
Background: Griscelli syndrome (GS) is a rare genetic disorder characterized by oculocutaneous albinism and variable immune dysfunction. Among three distinct types of GS, occurring due to different genetic mutations; GS type 1 presents with neurological manifestations, hemophagocytic lymphohistiocytosis (HLH) generally develops in GS type 2, and GS type 3 primarily exhibits oculocutaneous albinism. HLH, a life-threatening condition with excessive immune activation, may occur secondary to various triggers, including infections, and develop in different tissues, as well as in the testis, similar to Erdheim-Chester disease.
View Article and Find Full Text PDFBeyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.
Turk Arch Pediatr
January 2025
Division of Allergy and Immunology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Türkiye.
Objective: Prolidase deficiency is a metabolic and immunological disorder that is inherited in an autosomal recessive manner. In prolidase deficiency, a broad spectrum of differences is observed in patients, ranging from asymptomatic to multisystem involvement. There is scarce information in the literature on the atypical features and immunophenotypes of this disease.
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