Objective: The aim of the analysis was to present two cases of a late onset sepsis (LOS) caused by Klebsiella pneumoniae (KLE) recognized in prematurely delivered siblings, born within the interval of one year.
Study Design and Result:It was a retrospective study. The first child was born after 32 weeks of pregnancy and the gestational age of the second infant was 29 weeks of pregnancy and died in the course of sepsis without positive blood culture examination. In the second child, sepsis with the same clinical signs was diagnosed, the strains of KLE were isolated from the blood and from the mother's breast milk: the strains were identical, confirmed with PFGE.
Conclusion:Presented results suggest that the source of infections in both siblings was contaminated breast milk. The targeted therapy used in the mother allowed breastfeeding the child.
Anterior segment dysgenesis (ASD) encompasses a spectrum of ocular disorders affecting the structures of the anterior eye chamber. Mutations in several genes, involved in eye development, are implicated in this disorder. ASD is often accompanied by diverse multisystemic symptoms and another genetic cause, such as variants in genes encoding collagen type IV. Thus, a wide spectrum of phenotypes and underlying genetic diversity make fast and proper diagnosis challenging. Here, we used AMELIE, an automatic text mining tool that enriches data with the most up-to-date information from literature, and wANNOVAR, which is based on well-documented databases and incorporates variant filtering strategy to identify genetic variants responsible for severely-manifested ASD in a newborn child. This strategy, applied to trio sequencing data in compliance with ACMG 2015 guidelines, helped us find two compound heterozygous variants of the B3GLCT gene, of which c.660+1G>A (rs80338851) was previously associated with the phenotype of Peters plus syndrome (PPS), while the second, NM_194318.3:c.755delC (p.T252fs), in exon 9 of the same gene was noted for the first time. PPS, a very rare subtype of ASD, is a glycosylation disorder, where the dysfunctional B3GLCT gene product, O-fucose-specific β-1,3-glucosyltransferase, is ineffective in providing a noncanonical quality control system for proper protein folding in cells. Our study expands the mutation spectrum of the B3GLCT gene related to PPS. We suggest that the implementation of automatic text mining tools in combination with careful variant filtering could help translate sequencing results into diagnosis, thus, considerably accelerating the diagnostic process and, thereby, improving patient management.
Severe acute respiratory syndrome coronavirus (SARS-CoV-2) 1 (Gorbalenya et al. 2020: 536) is the virus that causes the coronavirus disease 2019 (COVID-19), the respiratory illness responsible for the COVID-19 pandemic (BBC: February 11, 2020). 2 The World Health Organization (WHO) declared the disease a
Jednoczesny start w wyborach gminnej egzekutywy (wójtów, burmistrzów i prezydent ów miast) oraz organów samorządów wyższego szczebla (rad powiatowych i sejmików wojewódzkich) -nazwany przez nas "bilokacją" -został uniemożliwiony przez zmiany kodeksu wyborczego, uchwalone w 2018 r. Skala tego zjawiska, jak też i jego konsekwencje, nigdy wcześniej nie były poddane systematycznej analizie, choć pojawiło się ono już w 2002 r., wraz z bezpośrednimi wyborami gminnych włodarzy. Nasz artykuł pokazuje, kto -i z jakim skutkiem -wykorzystywał taką możliwość we wcześniejszych wyborach ze szczególnym uwzględnieniem 2014 r. Bilokacje okazały się praktyką powszechną, 1
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