J Chromatogr B Analyt Technol Biomed Life Sci
December 2024
The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied solely on the absence of a shortened D4Z4 allele in clinically affected patients. It is now established that most FSHD2 cases carry a heterozygous variant in the SMCHD1 gene.
View Article and Find Full Text PDFColonization by Clostridioides difficile is common in children with inflammatory bowel disease (IBD) and complicates both the management of IBD and the diagnosis of C. difficile infection (CDI). There is a paucity of data on rates, risk factors, and outcomes associated with asymptomatic C.
View Article and Find Full Text PDFBackground: The use of mobile technology to meet health needs, widely referred to as mobile health (mHealth), has played a critical role in providing self-management support for chronic health conditions. However, despite its potential benefits, mHealth technologies such as self-management support apps for spinal cord injury (SCI) have received little research attention, and an understanding of their public availability is lacking. Therefore, an overview of these apps is needed to complement findings from the literature for a complete understanding of mHealth self-management support tools for SCI to support the selection and improvement of existing apps and the development of new ones.
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