Publications by authors named "I Atallah"
Article Synopsis
- The TAOK proteins are important kinases involved in various cellular functions and are linked to neurodevelopmental disorders (NDDs) like those caused by TAOK1 and TAOK2 variants.
- A study analyzed clinical and genetic data from individuals with these variants, revealing that TAOK1 variants lead to significant neurodevelopmental issues and some novel characteristics, while TAOK2 variants are tied to neurodevelopmental abnormalities, autism, and obesity.
- This research expands the understanding of these disorders by presenting the largest cohort of individuals with TAOK1-NDD and identifying new variants and phenotypes associated with both TAOK1 and TAOK2.
Article Synopsis
- * Diagnostic protocols for increased nuchal translucency include rapid tests for aneuploidy, cytogenetic analysis, and in some cases, whole exome sequencing (WES), though its role in isolated cases is still debated.
- * In a study involving two euploid fetuses with isolated increased nuchal translucency, whole genome sequencing revealed variants in the NUP107 gene linked to severe nephrotic syndrome, highlighting the importance of advanced genetic testing
Endoscopic Removal of Uncovered Metallic Airway Stents.
J Bronchology Interv Pulmonol
October 2024
Background: Self-expandable uncovered metallic stents (SEUMS) have been used in benign tracheobronchial stenosis. Stent complications may require risky removal due to SEUMS integration in the tracheobronchial wall. Our study aims to report techniques, including a novel one, and outcomes of SEUMS removal by rigid bronchoscopy.
View Article and Find Full Text PDFRole of expiratory chest X-ray in pediatric foreign body aspiration.
Int J Pediatr Otorhinolaryngol
August 2024
Purpose: Tracheobronchial foreign body aspiration is a common pediatric emergency and a leading cause of accidental deaths in children. The diagnosis remains sometimes difficult even with physical examination, medical history, and basic X-rays. This challenge necessitates the performance of endoscopy under general anesthesia, regardless of the potential for serious complications.
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