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-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations.
J Med Genet
January 2025
Department of Pediatrics, NHO Beppu Medical Center, Beppu, Oita, Japan
Introduction: Genotype-phenotype correlations in -related neurodevelopmental disorders (-NDDs) remain unclear. This systematic review aimed to clarify these correlations.
Methods: Searches of PubMed and Embase were conducted on 8 August 2024 to identify studies that had investigated genetically diagnosed NDDs (5q31.
Respiratory failure as main presentation sign of MAPT-related disorder.
J Neurol
January 2025
Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.
Introduction: The MAPT gene encodes Tau, a protein mainly expressed by neurons. Tau protein plays an important role in cerebral microtubule polymerization and stabilization, in axonal transport and synaptic plasticity. Heterozygous pathogenic variation in MAPT are involved in a spectrum of autosomal dominant neurodegenerative diseases known as taupathies, including Alzheimer's disease, Pick's disease, fronto-temporal dementia, cortico-basal degeneration and progressive supranuclear palsy.
View Article and Find Full Text PDFFirst Indonesian Nasopharyngeal Cancer Whole Epigenome Sequencing Identify Tumour Suppressor CpG Methylation.
Biologics
January 2025
Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.
Introduction: Nasopharyngeal cancer (NPC) is a multifaceted disease characterized by genetic and epigenetic modifications. While Epstein-Barr virus (EBV) infection is a known risk factor, recent studies highlight the significant role of DNA methylation in NPC pathogenesis. Aberrant methylation, particularly at CpG sites, can silence tumour suppressor genes, promoting uncontrolled cell growth.
View Article and Find Full Text PDFSolitary Osteochondroma in Uncommon Sites- A Rare Case Report.
J Orthop Case Rep
January 2025
Department of Orthopedics, Stanley Medical College, Chennai, Tamil Nadu, India.
Introduction: Osteochondroma is a bony lesion arising from the surface of the bone. It com-prises a large percentage of all benign bone tumors. A unique feature of this tumor is the conti-nuity of cortical and medullary components between the normal bony tissue and aberrant tissue of osteochondroma.
View Article and Find Full Text PDFCoal Worker's Pneumoconiosis-Targeted Lipidomics Reveals Aberrant Phospholipid Metabolism for Early-Stage Diagnosis.
China CDC Wkly
December 2024
NHC Key Laboratory of Pneumoconiosis, MOE Key Laboratory of Coal Environmental Pathogenicity and Prevention, Shanxi Key Laboratory of Respiratory Diseases, The First Hospital of Shanxi Medical University, Taiyuan City, Shanxi Province, China.
Introduction: Pneumoconiosis is the most prevalent occupational disease in China, with coal worker pneumoconiosis (CWP) demonstrating the highest incidence. Studies have indicated that phospholipids may be associated with CWP.
Methods: In this study, serum was obtained from 62 patients with pneumoconiosis, 105 coal dust-exposed workers, and 50 healthy individuals and analyzed via targeted lipidomics using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS).
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