Genotype-function-phenotype correlations for SCN1A variants identified by clinical genetic testing.

Objective: Interpretation of clinical genetic testing, which identifies a potential genetic etiology in 25% of children with epilepsy, is limited by variants of uncertain significance. Understanding functional consequences of variants can help distinguish pathogenic from benign alleles. We combined automated patch clamp recording with neurophysiological simulations to discern genotype-function-phenotype correlations in a real-world cohort of children with SCN1A-associated epilepsy.

Through the lens of Good Participatory Practice: Findings and lessons learned from the healthcare worker subcommittee of the COVID-19 Healthcare Worker Exposure Response and Outcomes Registry.

Participant representation, including the Good Participatory Practice guidelines, in the design and execution of clinical research can profoundly affect research structure and process. Early in the COVID-19 pandemic, an online registry called the Healthcare Worker Exposure Response and Outcomes (HERO) Registry, was launched to capture the experiences of healthcare workers (HCWs) on the pandemic frontlines. It evolved into a program that distributed COVID-19-related information and connected participants with COVID-19-related research opportunities.

Serous otitis media as a cause for language delay following cleft palate repair-A case-control study.

Background And Objectives: Serous otitis media (SOM), also called otitis media with effusion (OME) or glue ear, is a collection of non-purulent fluid within the middle ear space. Children with cleft palate are more prone to develop this condition. This is caused by impaired eustachian tube function in cleft palate.

Oxidised Apolipoprotein Peptidome Characterises Metabolic Dysfunction-Associated Steatotic Liver Disease.

Background: Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) encompasses a spectrum of histological conditions ranging from simple steatosis to fibrosing steatohepatitis, and is a risk factor for cardiovascular diseases (CVD). While oxidised apolipoproteins A and B have been linked to obesity and CVD, the association between other oxidised apolipoproteins and MASLD is yet to be established. To fill this gap, we characterised the circulating serum peptidome of patients with MASLD.