Publications by authors named "C Grant Richmond"
We describe the phenotypic and genotypic spectrum of patients with vascular anomaly (VA) in a paediatric multi-disciplinary VA clinic. We measured the clinical utility of genotyping by comparing pre and posttest diagnosis and management. A 46-month retrospective analysis occurred for 250 patients offered genetic testing in the VA clinic.
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- A study was conducted to understand the symptom patterns and natural history of cyclic vomiting syndrome (CVS) in adults over a 6-month period using daily electronic diaries.
- The research involved 93 enrolled patients, with 88 providing data; a significant number experienced CVS episodes, with a median of 0.6 episodes per month, lasting around 3 days on average.
- The findings indicate variability in episode patterns and emphasize the need for more precise definitions and characterizations of CVS episodes for better understanding and management of the condition.
Purpose: The fragility index (FI) is an adjunctive metric to facilitate the interpretation of p-values in clinical trials. The FI has not been studied in phase 3 trials in pediatric oncology.
Methods: PubMed was used to identify phase 3 pediatric oncology trials published between 1980 and 2020.
Individuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of remains unclear. Here, we present a largely female cohort of 11 individuals with variants with developmental delays and dysmorphic facial features.
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- * Most students, especially those with SLD, showed below-average performance, with more issues in word-level skills than in reading comprehension alone.
- * Analysis of changes in reading performance from Grade 6 to 8 indicated stable patterns in SLD students and variable patterns in typically developing students, suggesting that many adolescents may require ongoing intervention for word-level skills to improve their overall reading comprehension.