5-Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family.

Key clinical message: 5-Alpha 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. Abstract: 5-Alpha reductase deficiency is a genetic disorder causing 46, XY disorder of sex development (DSD). Typical clinical feature is a male with ambiguous genitalia or undervirilization at birth. Here we report three cases of this disorder within a family.

Association between interleukin-1 receptor antagonist (IL-1ra) VNTR, gene polymorphism and breast cancer susceptibility in Iranian population: Experimental and web-based analysis.

Breast 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. Hence, present study aimed to assess the possible association between interleukin-1 receptor antagonist (IL-1Ra) VNTR polymorphism, and breast cancer susceptibility in Iranian population. A total of 300 Iranian individuals, 150 breast cancer patients and 150 age-matched healthy women, were included in this study. DNA extracted by salting out method and genotyping was done using the polymerase chain reaction. The frequency of the allele 2(5% vs. 22%) and the 2/2 genotype (22% vs. 46%) of IL-1Ra VNTR polymorphism was significantly higher in healthy control compared to breast cancer patient: therefore, A2 allele may play a protective role against breast cancer and its progression (p = .0001 and OR = 0.105, 95% CI: [0.044-0.248]). The allele 2 and 2/2 genotype of the IL-Ra VNTR polymorphism can be a protective factor against breast cancer susceptibility.

A Severe Case of Bilateral COVID-19 Pneumonia with Concurrent Ischemic Stroke and Myocardial Infarction.

Looking 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. During the course of admission patient developed unstable angina. Further testing confirmed an acute ST elevation myocardial infarction. While on anticoagulant treatment, patient showed signs of cerebrovascular accident. An emergency brain CT was ordered which did not yield any significant changes supporting our clinical diagnosis. Further diagnostic workup using magnetic resonance imaging disclosed evidence of cerebral ischemia in medial cerebral artery territory. Our study suggests that prophylactic anticoagulant regiment is not reassuring in COVID-19 patients and close observation and vigilance, can help clinicians to act timely and can improve patient survival.

The Polymorphism of miR-146a (rs2910164) and Breast Cancer Risk: A Meta-Analysis of 17 Studies.

BACKGROUND: 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. METHODS: We searched PubMed, EMBASE, Web of Science and Google Scholar databases for papers published before August 10, 2019. Afterward, genotypes' distribution, genotyping methods and ethnicity groups were extracted and Overall analyses were conducted. A total number of seventeen researches on 7676 subjects and 7476 controls were found to meet our criteria in this meta-analysis. RESULTS: Our observations confirmed the increased risk in breast cancer with rs 2910164 polymorphism in three genetic models: allele contrast fixed genetic model, Recessive fixed genetic model and CC vs. GG genetic model (P value 0.0109, 0.0404 and 0.0019, respectively). CONCLUSION: The rs2910164 polymorphism is associated with increased breast cancer risk. We suggest that more multicenter studies with larger samples investigate this matter to further clarify the association and verify our findings.