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Objectives It remains unknown what degree of risk is conferred by celiac disease (CD)‐predisposing human leukocyte antigen (HLA)‐DQ genotypes in Saudi Arabia compared with in Western countries. In this study, we aimed to determine the CD risk gradient associated with the HLA‐DQ genotypes and to compare HLA‐DQ genotypes between symptomatic patients with CD and screening‐identified asymptomatic CD patients. Methods We enrolled three groups of subjects, including 46 CD children diagnosed consecutively over the past 10 years, 54 CD children diagnosed during a mass screening of schoolchildren, and 192 healthy controls. All the participants were typed for the HLA‐DQA1 and HLA‐DQB1 genes by polymerase chain reaction sequence‐specific oligonucleotide probes. Results Comparing the patients with CD to controls, we identified 5 groups in the CD risk gradient: (i) very high risk associated with the DQ2.5/DQ8 genotype (odds ratio [OR] 46.93); (ii) high risk (homozygous DQ2.5, DQ2.5/DQ2.2; OR 4.12‐5.04); (iii) intermediate risk (heterozygous DQ2.5, DQ8/DQ2.2; OR 1.61 and 1.67); (iv) low risk (DQ8, DQ2.2); and (v) very low risk (DQ2.x, DQX.5, DQX.x). Heterozygous DQ8 was more common in screening‐identified group compared to symptomatic patients (13.0% vs 2.2%); however, other genotypes were very similar between the two groups. Conclusion The highest risk of developing CD in our Saudi Arabia population is associated with the DQ2.5/DQ8 genotype.

BackgroundThe 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.ObjectiveWe report the first nationwide BA study outside North America, Europe, and East Asia to describe the epidemiology and outcomes of BA in Saudi Arabia.MethodsA national database of BA cases diagnosed between 2000 and 2018 was analyzed. We assessed clearance of jaundice (bilirubin <20 μmol/L) in all cases that underwent Kasai portoenterostomy (KPE). We then estimated survival using the Kaplan–Meier method with endpoints of liver transplantation (LT), death, or survival with native liver (SNL).ResultsBA was diagnosed in 204 infants (106 females; 10% pre-term). The incidence of BA was 1 in 44,365, or 2.254 in 100,000 live births (range, 0.5–4 in 100,000). Polysplenia was diagnosed in 22 cases (11%). The median age at referral was 65 days. A total of 146 children (71.5%) underwent KPE at a median age of 70 days. Clearance of jaundice was achieved in 66 of the 146 (45%) infants. The 10-year SNL after KPE was 25.5%, and the overall 10-year estimated survival was 72.5%. The Kaplan–Meier survival curves for patients undergoing KPE at the age of <60, 61–90, and >90 days showed a SNL rate at 51.6, 33, and 12.5%, respectively, at 5 years (P < 0.001). The 2-, 5-, and 10-year post-LT survival rates were 92.5, 90.6, and 90%, respectively. Undergoing an initial KPE did not impact negatively on the overall LT survival rate when compared to BA cases that underwent primary LT (P = 0.88).ConclusionThe incidence rate of BA in Saudi Arabia is lower than the incidence reported elsewhere. Late referral of BA cases remains a problem in Saudi Arabia; as a result, the SNL rate was lower than reported by other national registries. Hence, national policies devoted to timely referral and earlier age at KPE are needed.

Background: Neonatal sepsis is a major cause of morbidity and mortality worldwide, especially when an infant is delivered preterm. Objectives: The aim of the current work was to evaluate the clinical presentation, etiology, antibiotics use, and mortality in neonatal sepsis cases at King Fahad Medical City. Duration of antibiotics and length of hospital stay were also included. Patients and Methods: This cross sectional retrospective descriptive, single-institute study included a total of 225 neonates suspected to have neonatal sepsis, attending at tertiary hospital, Department of General Pediatric, King Fahad Medical City, Riyadh, Saudi Arabia. This study was conducted between January 2014 to July 2017. Subjects were hospitalized through Emergency Department and included all neonates underage of 28 days. Results: Among the included 225 neonates, 134 (59.6%) were male and 91 (40.4%) were female. Most of them Term neonates 203 (90.2%). Fever found to be the most common symptoms 184 patients (81.8%) followed by decrease feeding and activity in 124 (55%) and 101 (44.9%) respectively. Respiratory symptoms like cough, tachypnea, runny nose and cyanosis found in 56 (25%). Empirical antibiotics frequently used were amipicillin 209 (92%) and cefotaxime 185 (82%) with median duration of 4days (range 1-47 days). Blood cultures came positive in 8 patients (3.6%). Coagulase negative staphylococci came in 3 (30%) patients and E.coli in 3 (30%) patients as well. Conclusion:It could be concluded that large number of neonates admitted as suspected neonatal sepsis in our hospital resolved their symptoms without find identifiable etiology. In those who had identifiable etiology urinary tract infections (UTI) and viral infections were the common etiology. However, blood stream sepsis and meningitis were quite rare.