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Showing posts from August, 2021

Variant PNLDC1, Defective piRNA Processing, and Azoospermia

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  P-element– precipitated wimpy testis (PIWI)–interacting RNAs (piRNAs) are short (21to 35 nucleotides in length) and noncoding and are observed nearly solely in germ cells, in which they adjust aberrant expression of transposable factors and post meiotic gene expression. Critical to the processing of piRNAs is the protein poly(A)- precise RNase-like area containing 1 (PNLDC1), which trims their 3′ ends and, whilst disrupted in mice, reasons azoospermia and male infertility. We carried out exome sequencing on DNA samples from 924 guys who had obtained an analysis of nonobstructive azoospermia. Testicular-biopsysamples have been analyzed through histologic, immunohistochemical hybridization, reverse-transcriptase–quantitative-polymerase-chain- response assay, and small-RNA sequencing Four unrelated guys of Middle Eastern descent who had nonobstructive azoospermia have been discovered to hold mutations in PNLDC1: the primary affected person had a biallelic stop–advant

Urinary tract infections

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Urinary tract infections and recurrent urinary tract infections pose significant burdens on patients and healthcare systems. Testing and treatment strategies are increasingly important in the age of antibiotic resistance and stewardship.   We designed a decision tree to model four strategies (Figure 1) for managing UTIs: (1) empirical antibiotics first, followed by culture-directed antibiotics if symptoms persist; (2) urine culture first, followed by culture-directed antibiotics; (3) urine culture at the same time as empirical antibiotics, followed by culture-directed antibiotics if symptoms persist; (4) symptomatic treatment first, followed by culture-directed antibiotics if symptoms persist. To model both patient and society-level concerns, we built three versions of this model with different outcome measures: quality-adjusted life-years (QALY), symptom-free days, and antibiotic courses given. Societal cost of antibiotic resistance was modeled for each course of antibiotics given. Th

A Trial of Hyperimmune Globulin to Prevent Congenital Cytomegalovirus Infection

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  Primary cytomegalovirus (CMV) infection during pregnancy carries a risk of congenital infection and possible severe sequelae. There is no established intervention for preventing congenital CMV  infection.  In this multicenter, double-blind trial, pregnant women with primary CMV infection diagnosed before 24 weeks’ gestation were randomly assigned to receive a monthly infusion of CMV hyperimmune globulin (at a dose of 100 mg per kilogram of body weight) or matching placebo until delivery. The primary outcome was a composite of congenital CMV infection or fetal or neonatal death if CMV testing of the fetus or neonate was not performed. Among pregnant women, administration of CMV hyperimmune globulin starting before 24 weeks’ gestation did not result in a lower incidence of a composite of congenital CMV infection or perinatal death than placebo.