The necessity to organize genetic service for patients and their relatives in multiprofile hospitals is discussed. Analysis of long-term experience of the Medical Genetic Department at the First Moscow Medical University yielded main characteristics to be used for the organization of medical genetic service at such hospitals based at independent divisions. Such services ensure more efficacious care than those at the regional level.
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Mol Genet Genomic Med
January 2025
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: X-linked intellectual disability (XLID) is a genetically heterogeneous disorder that results in cognitive impairment and developmental delays. Mutations in the KDM5C gene have been identified as a causative factor in XLID. This study aimed to identify novel variants associated with XLID and to investigate the clinical and genetic characteristics of XLID patients with mutations in the KDM5C gene.
View Article and Find Full Text PDFMol Ecol
January 2025
Globe Institute, University of Copenhagen, Copenhagen, Denmark.
The Arctic environment plays a critical role in the global climate system and marine biodiversity. The region's ice-covered expanses provide essential breeding and feeding grounds for a diverse assemblage of marine species, who have adapted to thrive in these harsh conditions and consequently are under threat from global warming. The bearded seal (Erignathus barbatus), including two subspecies (E.
View Article and Find Full Text PDFInt J Rheum Dis
January 2025
Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.
Chronic inflammation is a major characteristic of ankylosing spondylitis (AS) and is closely related to the mechanisms of cancer development. Persistent inflammatory responses can lead to DNA damage, gene mutations, and abnormal cell proliferation, all of which may increase the risk of cancer. We also explore the use of biologic therapy of AS and their potential cancer risks.
View Article and Find Full Text PDFFront Public Health
January 2025
Centre of Genomics and Policy, Faculty of Medicine and Health Sciences, McGill University, Montreal, QC, Canada.
Introduction: This qualitative research study aimed to better understand and help improve the Canadian context for health communication with intersex adults by centering the voices of those directly involved and impacted.
Methods: We conducted 22 semi-structured interviews with intersex individuals (14) and healthcare practitioners (HCPs, 8) from diverse areas of care. Interviews were analyzed via template thematic analysis and filtered through a conceptual lens that brought together agency-based and social-ecological models of health communication.
Cureus
December 2024
Department of Clinical Immunology and Allergology, Iuliu Hatieganu University of Medicine and Pharmacy of Cluj, Cluj-Napoca, ROU.
Macrotrabecular-massive hepatocellular carcinoma (MTM-HCC) is a rare and aggressive molecular subtype of hepatocellular carcinoma (HCC) associated with a poor prognosis. Unlike typical HCC, which commonly arises in the context of cirrhosis, MTM-HCC can develop in non-cirrhotic livers, presenting unique diagnostic and therapeutic challenges. This case report describes a 35-year-old male who presented with persistent epigastric pain, fatigue, and loss of appetite.
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