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SYNTAX I score is associated with genetically confirmed familial hypercholesterolemia in chinese patients with coronary heart disease.
BMC Cardiovasc Disord
December 2024
Heart Center & Beijing Key Laboratory of Hypertension, Beijing Chaoyang Hospital, Capital Medical University, Beijing, People's Republic of China.
Background: Familial hypercholesterolemia (FH) is a genetically inherited disorder caused by monogenic mutations or polygenic deleterious variants. Patients with FH innate with significantly elevated risks for coronary heart disease (CHD). FH prevalence based on genetic testing in Chinese CHD patients is missing.
View Article and Find Full Text PDFA comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.
Hum Reprod Open
November 2024
Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.
Study Question: Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility?
Summary Answer: Our findings revealed a significant association between SPGF and the gene and identified three novel genes (, , and ) along with 32 potentially pathogenic rare variants in 30 genes that contribute to this condition.
What Is Known Already: SPGF is a major cause of male infertility, often with an unknown aetiology. SPGF can be due to either multifactorial causes, including both common genetic variants in multiple genes and environmental factors, or highly damaging rare variants.
Evolutionary consequences of long-distance dispersal in mosquitoes.
Curr Opin Insect Sci
December 2024
Bio21 Institute, School of BioSciences, University of Melbourne, Parkville, Australia. Electronic address:
Long-distance dispersal (LDD) provides a means for mosquitoes to invade new regions and spread adaptive alleles, including those conferring insecticide resistance. Most LDD takes place on human transport vessels and will typically be rarer and more directionally constrained than active flight but can connect populations and regions that are otherwise mutually inaccessible. These features make LDD worthy of specific consideration in mosquito research.
View Article and Find Full Text PDFAcquired autoinflammatory disorders: A dermatologist's perspective.
Clin Exp Dermatol
December 2024
Department of Dermatology, Venereology and Leprology; Postgraduate Institute of Medical Education and Research; Chandigarh, India.
Autoinflammatory disorders are characterized by dysregulated and disproportionately heightened response of innate immune system (IIS) to molecular patterns associated with damage and pathogens/microbes (DAMPs/PAMPs) with crucial role played by neutrophils and macrophages in disease pathogenesis. They closely resemble connective tissue diseases (CTDs). However, anti-nuclear antibodies (ANA), typically considered a marker of CTDs, are negative in autoinflammatory disorders.
View Article and Find Full Text PDFNovel rare variation of CCDC40 plays a role in the development of idiopathic scoliosis possibly via dysfunction of cilia motility.
Spine J
December 2024
Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School; Nanjing, Jiangsu, China. Electronic address:
Background Context: Motile cilia dysfunction was reported to lead to scoliosis-like phenotypes in zebrafish models. There is still a lack of population-based study supporting the role of cilia motility associated genes in the etiology of idiopathic scoliosis (IS).
Purpose: To investigate the molecular mechanism underlying the relationship between cilia motility associated genes and the development of adolescent idiopathic scoliosis (AIS).
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