We present an adolescent African American male admitted to the cardiac intensive care unit with cardiogenic shock and acute respiratory failure. Through an overview of his presentation, diagnostic workup, and treatment, we demonstrate the clinical utility of genetic testing in the evaluation of unexplained dilated cardiomyopathies.
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http://dx.doi.org/10.1155/2021/6641108 | DOI Listing |
Eur J Pediatr
January 2025
Service de Physiologie Pédiatrique-Centre du Sommeil-CRMR Hypoventilations Alvéolaires Rares, INSERM NeuroDiderot, Université Paris-Cité, AP-HP, Hôpital Robert Debré, Paris, France.
Unlabelled: It is known that in most cases of congenital central hypoventilation syndrome (CCHS), apnoeas and hypoventilation occur at birth. Nevertheless, a detailed description of initial symptoms, including pregnancy events and diagnostic tests performed, is warranted in infants with neonatal onset of CCHS, that is, in the first month of life. The European Central Hypoventilation Syndrome Consortium created an online patient registry from which 97 infants (44 females) with CCHS of neonatal onset and PHOX2B mutation from 10 countries were selected.
View Article and Find Full Text PDFItal J Food Saf
December 2024
Department of Veterinary Medicine, University of Sassari.
This study aimed to characterize Salmonella and Yersinia enterocolitica detected in fattening pigs in Sardinia, examining genetic similarity and antimicrobial resistance of isolates from farms and slaughterhouses and evaluating carcass hygiene. Environmental samples were collected from six pig farms, and the same pigs were also sampled at the slaughterhouses. Palatine tonsils, mesenteric lymph nodes, colon content, and carcass surface samples were collected and tested for Salmonella and Y.
View Article and Find Full Text PDFJ Water Health
January 2025
Department of Biology and Ecology, Faculty of Science, University of Kragujevac, Kragujevac 34000, Serbia.
Extended spectrum -lactamase (ESBL)-producing Enterobacteriaceae, including and , pose a serious risk to human health because of antibiotic resistance. Wastewater serves as a reservoir for these bacteria, contributing to the evolution and transmission of antibiotic-resistant strains. The research aims to identify ESBL bacterium in wastewater samples from District Kohat.
View Article and Find Full Text PDFFront Neurol
January 2025
14th European Reference Network in Neuromuscular Disorders (EURO-NMD), Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, Latvia.
Background: Charcot-Marie-Tooth disease (CMT), a slowly advancing hereditary nerve disorder, presents a significant challenge in the medical field. Effective drugs for treatment are lacking, and we struggle to find sensitive markers to track the disease's severity and progression. In this study, our objective was to investigate the levels of neurofilament light chain (NfL), glial fibrillary acid protein (GFAP), fibroblast growth factor 21 (FGF-21) and growth differentiation factor 15 (GDF-15) in individuals with CMT and to compare them to a control group.
View Article and Find Full Text PDFInfect Prev Pract
March 2025
Central Department of Biotechnology, Tribhuvan University, Kirtipur, Nepal.
Introduction: Meticillin resistant (MRSA) is a major contributor to surgical site infections in post-operative patients. Hospital environments harbor MRSA, contributing to higher risk of nosocomial infections. Meticillin resistance is conferred by acquisition of gene, typically carried on mobile genetic element called Staphylococcal Cassette Chromosome (SCC).
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