Publications by authors named "A Mory"
Article Synopsis
- Yellow Nail Syndrome (YNS) is a rare condition marked by yellow, malformed nails, swelling due to lymphedema, and chronic lung issues, typically presenting in adulthood, with potential genetic links suggested.
- Researchers conducted genetic sequencing and expression studies on 11 patients (6 with congenital YNS and 5 with sporadic YNS) to investigate its underlying causes.
- Findings revealed biallelic variants in genes related to the Wnt/planar cell polarity pathway in congenital cases, indicating that defects in cellular organization could be key to understanding YNS's development, though the study's small sample size is a limitation.
Article Synopsis
- * Trio exome sequencing revealed a likely pathogenic variant in the KIDINS220 gene, which is associated with various neurological and developmental disorders.
- * The case highlights a more severe clinical presentation of the KIDINS220 variant, contrasting with previous limited reports primarily focused on cases with ventriculomegaly.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. It is mostly sporadic, with the C9orf72 repeat expansion being the most common genetic cause. While the prevalence of C9orf72-ALS in patients from different populations has been studied, data regarding the yield of C9orf72 compared to an ALS gene panel testing is limited.
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- Rapid trio genome sequencing (rtGS) is being implemented in Israeli neonatal intensive care units (NICUs) to provide advanced care for critically ill newborns suspected of having genetic issues.
- A study conducted from October 2021 to December 2022 involved 130 neonates, leading to a diagnostic rate of 50% for disease-causing genetic variants and 11% for variants of unknown significance (VUS).
- Results showed a mean turnaround time for rapid reports of 7 days, with high engagement from medical staff regarding the clinical utility of the results (82% response rate to questionnaires).