Publications by authors named "Alali Abdulrazak"
Article Synopsis
- Cerebral venous sinus thrombosis (CVST) is a rare type of stroke primarily linked to genetic and acquired factors that increase the risk of blood clots.
- A study of an adolescent patient with CVST found high levels of homocysteine due to a specific genetic mutation in the MTHFR gene, while his unaffected brother showed similar genetic traits but no symptoms.
- Despite the connection between high homocysteine and CVST through MTHFR polymorphisms, the study suggests that other factors, like abnormalities in blood flow linked to the SCN1A gene, may also play a crucial role in developing thrombosis.
The CRISPR-Cas9 system can be modified to perform "epigenetic editing" by utilizing the catalytically inactive (dead) Cas9 (dCas9) to recruit regulatory proteins to specific genomic locations. In prior studies, epigenetic editing with multimers of the transactivator VP16 and guide RNAs (gRNAs) was found to cause adverse cellular responses. These side effects may confound studies inducing new cellular properties, especially if the cellular responses are maintained through cell divisions-an epigenetic regulatory property.
View Article and Find Full Text PDFMyhre syndrome is an increasingly diagnosed rare syndrome that is caused by one of two specific heterozygous gain-of-function pathogenic variants in SMAD4. The phenotype includes short stature, characteristic facial appearance, hearing loss, laryngotracheal stenosis, arthritis, skeletal abnormalities, learning and social challenges, distinctive cardiovascular defects, and a striking fibroproliferative response in the ear canals, airways, and serosal cavities (peritoneum, pleura, pericardium). Confirmation of the clinical diagnosis is usually prompted by the characteristic appearance with developmental delay and autistic-like behavior using targeted gene sequencing or by whole exome sequencing.
View Article and Find Full Text PDFBackground And Objectives: To evaluate whether initial urinalysis (UA) and urinary nitrite results can be used as a proxy for choosing empiric antibiotic therapy.
Materials And Methods: A retrospective study was conducted in an urban inner city community hospital in New York City (NYU Woodhull Medical Center). We reviewed the charts of patients seen in the Emergency Department and Pediatric Clinic who had a diagnosis of urinary tract infection (UTI) during a 3 year time period (January 2010-December 2012).