Medicine
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Case Reports
Identification of novel CDH23 variants linked to hearing loss in a Chinese family: A case report.
Deafness is associated with both environmental and genetic factors, with hereditary deafness often caused by mutations in deafness-related genes. Identifying and analyzing deafness-related genes will aid in early diagnosis and pave the way for treating inherited deafness through gene therapy in the future. ⋯ This study identified 2 novel heterozygous mutations in a Chinese family. Both the proband and her sibling have non-syndromic hearing loss (NSHL) and carry distinct heterozygous mutations of cadherin-like 23 (CDH23). One mutation, CDH23:c.2651 A>G, originated from their mother and paternal family, affecting the exon23 domain of CDH23. The other mutation, CDH23:c.2113 G>T, was inherited from their paternal grandmother, impacting the exon19 domain of CDH23. These 2 novel mutations likely cause NSHL by affecting protein function. This finding suggests that identifying 2 novel mutations in CDH23 contributes to the genetic basis of NSHL.
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To investigate the causal relationship between sleep duration and heart failure (HF) in a European population. We focused on the continuous sleep duration of 460,099 European individuals as our primary exposure. Genome-wide significant single nucleotide polymorphisms (SNPs, n = 9851,867) linked to continuous sleep duration were adopted as instrumental variables. ⋯ These conclusions were further bolstered by consistent results from sensitivity analyses. Our study suggests a causal linkage between sleep duration and the onset risk of HF in the European population. Notably, shorter sleep durations were associated with a heightened risk of HF.
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Previous studies have suggested a possible link between autoimmune diseases and graft dysfunction; however, a causal link remains unclear. Exposure factors were set as 13 autoimmune diseases, and outcomes were set as graft dysfunction. ⋯ At the same time, primary sclerosing cholangitis was found to be heterogeneous as an exposure factor (P = .009), but no heterogeneity or pleiotropy was found in other exposure factors. Our preliminary findings show 2 autoimmune diseases as risk factors for graft dysfunction, 1 autoimmune disease as a protective factor for graft dysfunction and the mechanisms remain to be understood.
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Multicenter Study Observational Study
Lack of association of ABO and RhD blood groups with COVID-19 mortality: A 2-center cross-sectional study in Saudi Arabia.
Several diseases, including both noninfectious diseases and bacterial and viral diseases, are associated with the ABO and RH blood group systems. Previous studies have shown a link between blood type and the probability of coronavirus disease 2019 (COVID-19) infection. In this study, we aimed to explore the correlation between deaths caused by COVID-19 and ABO and RhD blood types in Saudi Arabia. ⋯ The O-positive blood type had the highest mortality rate among COVID-19-infected patients, whereas the AB-negative type had the lowest. However, statistical analysis revealed no significant correlation between blood type (ABO or RhD) and COVID-19-based susceptibility or mortality. In conclusion, we found no association between ABO and RhD blood types and either susceptibility to or mortality due to COVID-19 in Saudi Arabia.
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Breast cancer (BC) remains one of the most pervasive and complex malignancies. PANoptosis represents a recently identified cellular mechanism leading to programmed cell death. However, the prognostic implications and influence on the immune microenvironment of BC pertaining to PANoptosis-related genes (PRGs) remain significantly understudied. ⋯ Finally, qRT-PCR results showed that the expression of CXCL1, PIGR, and TNFRSF14 significantly decreased, while CXCL13 and NKAIN were significantly increased in BC tissues. We have developed a molecular clustering and prognostic signature based on PANoptosis to improve the prediction of BC prognosis. This discovery has the potential to not only assist in assessing overall patient prognosis but also to deepen our understanding of the underlying mechanisms of PANoptosis in BC pathogenesis.