• Filter By:
• Specialty
• Source
• Condition
• Cancer
• Infectious Disease
• Drug
• Training
• Management
• Procedure
• Therapy
• Vaccine
• Nutrition
• Country

Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia
AbstractAdenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic autoinflammatory disease, is characterized by low or lack of ADA2 activity due toADA2 mutations. DADA2 symptoms are variable and include vasculitis, immunodeficiency, and cytopenia. Minimal data are available from Saudi Arabia. This retrospective study conducted at seven major tertiary medical centers examined the phenotypic and genotypic variabilities, clinical and diagnostic findings, and treatment outcomes among 20 Saudi patients with DADA2 from 14 families. The median age of the study cohort was 9.5  years (4–26 years). The clin...
Source: Journal of Clinical Immunology - October 14, 2022 Category: Allergy & Immunology Source Type: research

The association between obstructive sleep apnea and stroke in sickle-cell disease children
ConclusionPatients who had OSA had a higher prevalence of stroke compared to non-OSA patients by 16% with almost three times higher odds. The difference was statistically significant in bivariant but not multivariant analysis. The rate of hospitalization, emergency visit, and blood transfusion were not affected by OSA status. Screening for OSA in high-risk patients such as SCD children and early management could prevent the risk of SCD complications.
Source: European Archives of Oto-Rhino-Laryngology - January 29, 2022 Category: ENT & OMF Source Type: research