Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2121
Abstract: Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X‐linked dominant, lethal male disorder caused by mutations to the NSDHL (NAD(P)H steroid dehydrogenase‐like protein) gene. It primarily exhibits strictly unilateral congenital… read more here.
Keywords: gene; identification recurrent; male; male fatality ... See more keywords
Prolonged Therapy Is Not Associated with Delayed Identification of Recurrent Intra-Abdominal Infection.
Sign Up to like & getrecommendations! Published in 2022 at "Surgical infections"
DOI: 10.1089/sur.2022.238
Abstract: Background: The Study to Optimize Peritoneal Infection Therapy (STOP-IT) Trial identified an association between prolonged antibiotic therapy and delayed identification of recurrent intra-abdominal infection (IAI). However, this association has not been observed in other studies.… read more here.
Keywords: identification recurrent; infection; identification; therapy ... See more keywords