The tropical stratosphere is the gateway to the global stratosphere and a commonly proposed location for solar geoengineering. The dynamics of this remote and difficult to observe region are poorly understood, particularly at turbulent length scales. Existing observational estimates of turbulence frequency and strength vary widely.
View Article and Find Full Text PDFSmith-Lemli-Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly. This case series illustrates a milder phenotype of SLOS, where the predominant findings are neurocognitive in the presence of 2,3 toe syndactyly.
View Article and Find Full Text PDF3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMGCL) deficiency can be a very severe disorder that typically presents with acute metabolic decompensation with features of hypoketotic hypoglycemia, hyperammonemia, and metabolic acidosis. A retrospective chart and literature review of Australian patients over their lifespan, incorporating acute and long-term dietary management, was performed. Data from 10 patients contributed to this study.
View Article and Find Full Text PDFNon-coding regions are areas of the genome that do not directly encode protein and were initially thought to be of little biological relevance. However, subsequent identification of pathogenic variants in these regions indicates there are exceptions to this assertion. With the increasing availability of next generation sequencing, variants in non-coding regions are often considered when no causative exonic changes have been identified.
View Article and Find Full Text PDFAim: The New South Wales (NSW) biochemical genetics (BG) service in Australia developed business continuity plans (BCPs) in response to the COVID-19 pandemic to ensure the essential service remained operational. This article aims to discuss the effects of the COVID-19 BCPs on the NSW BG service and patient care.
Methods: BCPs were developed that included charting of NSW BG service workflow and services against staff resources and clinical impact on patients.
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