Publications by authors named "A Asery"
Article Synopsis
- A study was conducted to assess the effectiveness of colonoscopy in diagnosing lower gastrointestinal bleeding (LGIB) in Saudi children over a decade, utilizing data from King Fahad Medical City.
- Pediatric patients aged 0-14 years who underwent colonoscopy for LGIB were analyzed, revealing inflammatory bowel disease (IBD) as the most common cause (32%), with other conditions like colonic lymphonodular hyperplasia (CLNH) and juvenile polyps following.
- The results indicated high diagnostic accuracy for colonoscopy, with a sensitivity of 97% and a specificity of 100%, highlighting its effectiveness in identifying the underlying causes of LGIB in this population.
Background: Dubin-Johnson syndrome (DJS) presents during the neonatal period with a phenotype that overlaps with a broad list of causes of neonatal cholestasis (NC), which makes the identification of DJS challenging for clinicians. We conducted a case-controlled study to investigate the utility of urinary coproporphyrins (UCP) I% as a potential diagnostic biomarker.
Methods: We reviewed our database of 533 cases of NC and identified 28 neonates with disease-causing variants in ATP-binding cassette-subfamily C member 2 (ABCC2) gene "Cases" (Study period 2008-2019).
Background: The epidemiology and outcomes of biliary atresia (BA) have been well-documented in national cohorts from two main ethnicities, namely, the Asian Orientals and Caucasians, with incidence ranging from 1 in 5,000 to 1 in 9,000 live births in East Asia and 1 in 15,000 to 19,000 live births in Europe and North America.
Objective: We report the first nationwide BA study outside North America, Europe, and East Asia to describe the epidemiology and outcomes of BA in Saudi Arabia.
Methods: A national database of BA cases diagnosed between 2000 and 2018 was analyzed.
There are only a few case reports and small case series on neonatal-onset Dubin-Johnson syndrome (DJS), particularly from Far-East Asia, Iranian and Moroccan Jews, and Europe. In this first study from the Arabs and the largest series reported to date, we characterized the clinical, laboratory, and molecular features and outcome of gene-confirmed neonatal-onset DJS. We reviewed our database of 533 cases of neonatal cholestasis that presented to our center during the period from 2008 to 2019.
View Article and Find Full Text PDFBackground: Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woolly hair, intrauterine growth restriction, facial dysmorphism, and short stature. Our knowledge of THES is limited due to the small number of reported cases.
Methods: Thirty patients diagnosed with THES, all molecularly confirmed by whole exome sequencing (WES) to have biallelic variants in TTC37 or SKIV2L, were included in the study.