Publications by authors named "S Mercimek-Andrews"
Background And Objectives: Neonatal encephalopathy (NE) is characterized by an abnormal level of consciousness with or without seizures in the neonatal period. It affects 1-6/1,000 live term newborns. We applied genome sequencing (GS) in term newborns with NE to investigate the underlying genetic causes.
View Article and Find Full Text PDFAutosomal dominant Fanconi syndrome due to a variant (GATM-FS), causes accumulation of misfolded arginine-glycine amidinotransferase (AGAT) in proximal renal tubules leading to cellular injury. GATM-FS presents during childhood and progresses to end-stage kidney disease (ESKD) in adults. We study creatine metabolism in two individuals of unrelated families with a known variant and the effect of creatine supplementation in kidney organoids.
View Article and Find Full Text PDFArticle Synopsis
- Primary mitochondrial diseases (PMD) are common genetic disorders caused by harmful changes in mitochondrial or nuclear DNA that affect mitochondrial function; this study aims to explore overlaps between PMD and other genetic diseases that resemble PMD.
- A retrospective study analyzed 297 individuals suspected of having PMD, identifying 71 cases of PMD (split into mtDNA and nDNA) and 22 cases of other non-PMD genetic conditions, with adults showing a higher prevalence of mtDNA-PMD than children.
- The findings highlight the diagnostic potential of genetic testing (with a 31.3% success rate) and suggest that specific phenotypes can help differentiate PMD from non-PMD, along with noting possible progressive liver phenotypes that need
Background: To inform the development of a core outcome set (COS) for children and youth with mucopolysaccharidoses (MPS), we aimed to identify all outcomes and associated outcome measurement instruments that are reported in recent clinical trials and recommended as measurements in clinical management guidelines.
Methods: To identify English-language clinical trials and guidelines pertaining to MPS published between 2011 and mid-2021, we applied a comprehensive peer-reviewed search strategy to relevant databases and registers on May 16, 2021. Two reviewers independently screened retrieved citations and then full-text articles to determine eligibility for inclusion.
Article Synopsis
- Creatine transporter (CTD) and guanidinoacetate methyltransferase (GAMT) deficiencies cause serious brain issues like intellectual disabilities and seizures, with no effective treatment for CTD and a strict diet plus supplements needed for GAMT.
- A core outcome set (COS) has been developed in collaboration with caregivers and health professionals to determine key outcomes for assessing CTD and GAMT in clinical trials, including factors like cognitive functioning and emotional regulation.
- This COS aims to prioritize patient and caregiver perspectives to improve the drug development process, enhance trial comparability, reduce bias, and optimize resource use in research for these conditions.