Raised serum bilirubin levels can cause kernicterus, and premature infants are at increased risk owing to metabolic immaturity. The standard treatment for neonatal jaundice is phototherapy, but probiotics alone can reduce the duration of phototherapy and hospitalisation. To determine the effectiveness of phototherapy with and without probiotics for the treatment of indirect hyperbilirubinaemia in preterm neonates. The open-labelled randomised controlled trial was conducted from January 2022 to January 2023 in the neonatal unit of the University of Lahore Teaching Hospital, Pakistan. A total of 76 preterm neonates who fulfilled the selection criteria were included and divided into two groups. Both groups received standard phototherapy. In Group B, a probiotic (Saccharomyces boulardii) 125 mg, twice daily, orally (in 5 cc of whichever milk the infant was receiving) was given until discharge from hospital. The primary outcome measurements were the duration of phototherapy and the length of hospitalisation. The mean (SD) duration of phototherapy was 36.55 (14.25) hours in Group A and 24.61 (9.25) hours in Group B (p <0.05). The mean (SD) duration of hospital stay was 47.36 (16.51) hours in Group A and 33.13 (8.93) hours in Group B (p <0.05). Oral probiotics (Saccharomyces boulardii) have a significant effect on the duration of phototherapy for neonatal hyperbilirubinaemia, and they decrease the chances of nosocomial infection. Exploration of clinical outcomes by investigating faecal flora and undertaking large randomised controlled trials of various probiotics are needed. ABE: acute bilirubin encephalopathy; CNS: central nervous system; GA: gestational age; IVIG: intravenous immunoglobulin; KSD: kernicterus; NNU: neonatal unit; RCT: randomised controlled trial; S. boulardii: Saccharomyces boulardii.

Interleukin-2 receptor alpha ( IL2RA) defect (OMIM- # 606367) is an immune disease where affected patients are vulnerable to developing recurrent microbial infections in addition to lymphadenopathy and dermatological manifestations. This condition is known to be caused by pathogenic variants in the IL2RA gene, which are inherited in an autosomal recessive fashion. In this case report, we present a patient with IL2RA defect from Saudi Arabia who presented with chronic diarrhea, poor weight gain, mild villous atrophy, malnutrition, hepatomegaly, nonspecific inflammation, and an eczematous skin rash. His genetic analysis revealed a novel, homozygous, and likely pathogenic variant, that is, c.504 C>A (Cys168Ter), located in the exon 4of the IL2RA gene, which was inherited from his parents in an autosomal recessive mode of inheritance. This variant produces a 272-amino-acid shorter IL2RA protein chain, which most likely becomes degraded in the cytosol. Thus, we assume that the c.504 C>A is a null allele that abolishes the synthesis of IL2RA, malforms the IL-2 receptor complex, and eventually causes immunodeficiency manifestations. To our knowledge, this is the first time a person with IL2RA defect has shown signs of granulomatous hepatitis on a liver biopsy.

Colonoscopy quality indicators and maintenance of competency skills are relatively well established in the adult literature as compared to the pediatric gastroenterology. One of the suggested quality assurance measures is cecal intubation rate, which is suggested to be >90% in all colonoscopies as per American Society of Gastrointestinal Endoscopy (ASGE) guidelines. Terminal ileum (TI) intubations are essentially required for diagnostic reasons in pediatric colonoscopies as compared to the screening reasons in adults. Maintenance of competency in pediatric colonoscopies has been described in the literature but in smaller studies contrary to the adult ones. The aims of this study are to compare our center’s individual and group cecal intubation rates and compare it with the published literature, assess the group’s terminal ileal intubation rates in comparison with the published literature, assess the most common reasons for failure to intubate the cecum and/or terminal ileum, and to assess whether the presence of a trainee affects the intubation rates and the duration of the procedure. A retrospective chart review was performed on all pediatric patients (0-18 years). Colonoscopies performed over a two-year period at our single center were included in the study. Patients scheduled for sigmoidoscopy and with altered anatomy of their colon were excluded from the study. The endoscopy and pathology reports were reviewed to ascertain whether the cecum and TI were reached. Quality of bowel preparation and any other stated reasons for incompletion were obtained. Clinical charts were reviewed to obtain indication for colonoscopy. Skin-to-skin time, which is the time from starting to the finishing of the procedure, was recorded for each procedure. A total of 391 colonoscopies were performed during the two-year study period by six gastroenterologists. The number of colonoscopies per staff ranged from 57 to 89 procedures. The overall cecal intubation rate was observed to be 98.5% (range: 95.9%-98.9%). TI intubation rate was lower at a rate of 83.1% (range: 63.3%-92.1%). The main stated reason for the inability to attain cecum/TI was technical difficulty and poor bowel prep. Daytime colonoscopies were shorter (39.5 minutes vs 50.3 minutes) compared to after-hours ones and had a higher TI intubation rate (84.5% vs 62.5%). No complications were encountered in the procedures. Despite relatively low volumes, cecal intubation rates are very high, exceeding suggested standards. TI intubation rates were low, and there was noted to be a high degree of variability. However, multicentric collaborative evaluations are required over a longer period of time to establish relevant parameters for quality assurance and competency in pediatric endoscopy.

Background. Celiac disease (CD) is an immune-mediated enteropathy that has been associated with other immune-related gastrointestinal disorders, such as eosinophilic esophagitis (EoE) and lymphocytic gastritis (LG). To our knowledge, this is the first study in Saudi Arabia that has described such an association. Aim. To evaluate the prevalence of EoE and LG in children and adolescents with CD. Methods. This was a retrospective cross-sectional study of all pediatric patients (aged 018years) with CD following up at King Abdulaziz University Hospital, between January, 2014, and December, 2021. The study examined clinical, demographic, endoscopic, and histopathological data. Results. Seventy-five patients with CD were included in the analysis. The median age was 12years (range, 218years). Male constituted 54.7 of the overall cohort (n=41). The most common clinical symptoms were short stature (54.7), weight loss (34.7), abdominal pain (33.3), abdominal distension (29.3), anorexia (29.3), diarrhea (24), and vomiting (21.3). The esophageal biopsy results reported were basal cell hyperplasia in 24 patients (32.9), esophageal eosinophilia in 23 patients (31.5), and EoE in 3 patients (4.1). The gastric biopsy results were normal in 40 patients (53.3). The most common abnormality was chronic inactive gastritis with no Helicobacter pylori (HP) infection (16). LG was found in 3 patients (4). Conclusions. The prevalence of EoE in this cohort of patients with CD was lower than the prevalence recorded in a number of other studies. Further studies are needed to determine the effects of a gluten-free diet (GFD) on EOE and LG.

Biliary atresia (BA) is a rare but severe cause of obliterative cholangiopathy in neonates. Its incidence differs worldwide varying from 5/100,000 to 32/100,000 live births. The highest incidence is seen in Asia and the Pacific region. Diagnosing this disease is difficult in its early stages; thus, screening is necessary to avoid serious complications that can be minimized with early intervention during the first few months of life. Currently, although there are no medical treatments for BA, once the diagnosis is confirmed, the Kasai procedure may be a treatment option. The earlier the Kasai surgery is performed, the higher the success rate. Liver transplantation may be needed if the operation fails. This study aimed to determine the incidence of BA and the factors influencing the outcomes of the Kasai procedure at King Abdulaziz University Hospital, Jeddah, Saudi Arabia. This retrospective cohort study was conducted in the Pediatric Department at King Abdulaziz University Hospital, Jeddah from January 2019 to July 2019 and included consecutive patients with BA from 2010 to 2018. In total, 14 patients (57.1% female) were included in the study. The median age at the time of presentation was 90 (19-720) days, and the median age at the time of implementing the Kasai procedure was 90 (60-150) days. Eight patients underwent the Kasai procedure, and only one patient had a liver transplant. Antenatal screening for BA tended to ensure early diagnosis and better outcomes. Delay in diagnosis and intervention is associated with increased morbidity and mortality.