Key Clinical Message: 5Alpha reductase deficiency is an important cause of 46, XY disorder of sex development. Timely diagnosis and proper management by a multidisciplinary team can lead to a favorable outcome. Sex assignment should be deferred until puberty because spontaneous virilization occurs and the patient can engage in the decision-making process.
View Article and Find Full Text PDFBreast cancer is one of the leading causes of cancer mortality. Growing evidence indicates that interleukins and its polymorphisms are involved in the pathogenesis of breast cancer. Variable number of tandem repeat (VNTR) polymorphism can affect transcription rate, mRNA stability and also the resulting protein expression and activity.
View Article and Find Full Text PDFLooking at the recent data provided in literature, we can see an association between cardiovascular and cerebrovascular accidents in COVID-19 thought to be related to severe inflammation and prothrombotic environment caused by the virus. This article reports a patient presenting with typical signs and symptoms of SARS-CoV-2 infection including flu like symptoms and respiratory distress. Initially a chest CT was performed that showed characteristic findings of atypical pneumonia caused by SARS-CoV-2 virus which was later confirmed with a nasopharyngeal PCR positive for COVID-19.
View Article and Find Full Text PDFBackground: Single-Nucleotide Polymorphisms (SNPs) in genes responsible for coding microRNAs (miRNAs) are shown to be crucial in progression of Breast Cancer (BC).
Objective: The purpose of this meta-analysis is to obtain more definitive and reliable results due to the ambiguity and inconsistency of the previous findings in this regard. This study aimed at clarifying the association of mir14a polymorphisms with breast cancer.
X-ray repair cross-complementing group 1 (XRCC1) is a scaffold protein and a key element in DNA base excision repair process. Although, the role of XRCC1 polymorphisms in male infertility has been studied broadly, it is still a matter of debate. Hence, in order to shed light on the problem, we performed a meta-analysis to evaluate the overall effect of XRCC1 polymorphisms in male infertility risk.
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