Publications by authors named "Juliet Johns"
Objective: To assess the prevalence and predictors of splenic dysfunction in children with sickle cell disease (SCD).
Methods: A cross-sectional study was conducted between June 2019 and December 2020 where children aged 1 to 15 years of age with SCD were screened for splenic dysfunction. Children who were splenectomised, those with other diseases known to affect splenic function like congenital malformations, immunodeficiencies, and chronic diseases like tuberculosis, nephrotic syndrome, diabetes mellitus, chronic liver disease, celiac disease or malignancy were excluded.
"Liver Failure in an Infant of Late-Onset Glutaric Aciduria Type II": Case Report.
Indian J Clin Biochem
October 2023
Article Synopsis
- Glutaric aciduria type II, also known as Multiple acyl-CoA Dehydrogenase Deficiency, is caused by a defect in the mitochondrial electron transport chain, affecting the breakdown of fatty acids and amino acids and leading to severe health issues like acidosis and hypotonia.
- There are three phenotypes: types 1 and 2 present at birth with severe symptoms, while type 3 usually appears in adolescents or adults with milder manifestations but can still lead to serious metabolic crises.
- A case study focused on a five-month-old girl with symptoms including hypotonia and liver failure, who had an unremarkable metabolic screen but showed a genetic mutation suggestive of a specific form of the disorder; she ultimately died