Front Endocrinol (Lausanne)
January 2025
Diabetes insipidus (DI) is a rare endocrine disease involving antidiuretic hormone (ADH), encompassing both central and nephrogenic causes. Inability to respond to or produce ADH leads to inability of the kidneys to reabsorb water, resulting in hypotonic polyuria and, if lack of hydration, hypernatremia. DI cannot be cured and is an unfamiliar disease process to many clinicians.
View Article and Find Full Text PDFThe purpose of this study was to determine if there were correlations between the length of time from hospital admission to surgical intervention and the frequency of complications in patients with odontogenic infections. While odontogenic infection is well studied in terms of interventions and outcomes, less is known about hospital utilization and resource burden of odontogenic infection with respect to timeliness to intervention. A retrospective cohort analysis was used to examine correlations between time from admission to surgical intervention and clinical outcomes.
View Article and Find Full Text PDFPurpose: Telehealth genetic counseling is comparable to in-person visits in terms of satisfaction, knowledge, and psychological outcomes, but using visual aids can be challenging on telehealth platforms. This pilot study assessed if the "screen-sharing" feature via Zoom to display visual aids during results disclosure session positively impacted parental experience and comprehension of their child's genomic results especially in underrepresented groups and those with limited English proficiency.
Methods: In the TeleKidSeq pilot study, 409 children with suspected genetic conditions underwent genome sequencing.
The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities of type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome-wide association study (GWAS) efforts for childhood obesity revealed 19 independent signals for the trait; however, the mechanism of action of these loci remains to be elucidated. To molecularly characterize these childhood obesity loci, we sought to determine the underlying causal variants and the corresponding effector genes within diverse cellular contexts.
View Article and Find Full Text PDFBackground: Appendicectomy is a common procedure in children. Regional anaesthesia helps reduce requirements for opioids and hospital stay and enhances recovery. Laparoscopic-assisted Transversus Abdominus Plane block (L-TAP) was shown to be efficient and potentially superior to port site infiltration (PSI); however, this was not previously studied in paediatric appendicitis.
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