Background: Electrographic flow (EGF) mapping allows for the visualization of global atrial wavefront propagations. One mechanism of initiation and maintenance of atrial fibrillation (AF) is stimulation from EGF-identified focal sources that serve as driver sites of fibrillatory conduction. Electrographic flow consistency (EGFC) further quantifies the concordance of observed wavefront patterns, indicating that a healthier substrate shows more organized wavefront propagation and higher EGFC.
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November 2024
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.
Recently, the disease associated with antibodies against the myelin glycoprotein of oligodendrocytes was described. It is characterized by clinical manifestations such as optic neuritis, transverse myelitis, and acute disseminated encephalomyelitis, among others. It occurs in children and young adults.
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