Neonatal jaundice is considered one of the most common reasons for admission to the pediatric medical ward. We report a case of a 1-month-old infant who presented with jaundice but no fever or any other signs of systemic illnesses. Laboratory test results revealed high direct hyperbilirubinemia, and urine culture showed a urinary tract infection with Enterobacter cloacae as the causative agent. He was admitted to the pediatric medical ward where he was treated with a course of antibiotics for 14 days, and cholestasis resolved completely following a course of antibiotics. We conclude that direct hyperbilirubinemia can be related to urinary tract infection in neonates. It is unusual for urinary tract infection to present clinically and biochemically as cholestatic jaundice.

Aim of the study Disturbance in liver enzymes is a well-described observation in patients with celiac disease (CD). We aim to describe the prevalence of all liver function abnormalities in CD and assess their response to a gluten-free diet (GFD). Material and methods This is a retrospective cross-sectional study of all CD patients diagnosed from 2007 to 2020 in King Abdulaziz University Hospital, Jeddah. Demographic, biochemical, and histologic patient data were collected. Results The study included 132 patients with CD. The median age was 9.5 years (range, 1-18 years). Males constituted 56.1% ( n = 74) of the whole cohort. The most common associated morbidities were type 1 diabetes (33%), thyroid disease (15.7%), and Down syndrome (7.6%). Ninety-seven percent of patients were determined to have a severe form of CD (Marsh score 3). Aspartate aminotransferase (AST) was high in 38 patients (28.8%), while alanine aminotransferase (ALT) was high in 10 (7.6%). Two patients (1.5%) had elevated γ-glutamyl transferase (GGT) levels, and 2 patients (1.5%) had elevated AST, ALT, and GGT levels. Albumin levels were low in 29 patients (22%), while bilirubin levels were elevated in 1 patient. Introduction of a GFD resulted in improvement in ALT levels at 6 months, and improvement in albumin levels both after 6 months and 12 months. Conclusions Transaminase and albumin disturbances are frequently found in CD, with the most common abnormality being elevated AST. A decreased ALT level is the most pronounced response to a GFD.

BackgroundAutoimmune diseases (AIDs) share a common molecular etiology and often present overlapping clinical presentations. Thus, this study aims to explore the complex molecular basis of AID by whole exome sequencing and computational biology analysis.MethodsMolecular screening of the consanguineous AID family and the computational biology characterization of the potential variants were performed. The potential variants were searched against the exome data of 100 healthy individuals and 30 celiac disease patients.ResultA complex inheritance pattern of PAK2 (V43A), TAP2 (F468Y), and PLCL1 (V473I) genetic variants was observed in the three probands of the AID family. The PAK2 variant (V43A) is a novel one, but TAP2 (F468Y) and PLCL1 (V473I) variants are extremely rare in local Arab (SGHP and GME) and global (gnomAD) databases. All these variants were localized in functional domains, except for the PAK2 variant (V43A) and were predicted to alter the structural (secondary structure elements, folding, active site confirmation, stability, and solvent accessibility) and functional (gene expression) features. Therefore, it is reasonable to postulate that the dysregulation of PAK2, TAP2, and PLCL1 genes is likely to elicit autoimmune reactions by altering antigen processing and presentation, T cell receptor signaling, and immunodeficiency pathways.ConclusionOur findings highlight the importance of exploring the alternate inheritance patterns in families presenting complex autoimmune diseases, where classical genetic models often fail to explain their molecular basis. These findings may have potential implications for developing personalized therapies for complex disease patients.

Background: Sudden infant death syndrome (SIDS) is a tragic incident which remains a mystery even after post-mortem investigation and thorough researches.Methods: This comprehensive review is based on the genes reported in the molecular autopsy studies conducted on SIDS so far. A total of 20 original studies and 7 case reports were identified and included in this analysis. The genes identified in children or adults were not included. Most of the genes reported in these studies belonged to cardiac channel and cardiomyopathy. Cardiac channel genes in SIDS were scrutinized for further analysis.Results: After screening and removing the duplicates, 42 unique genes were extracted. When the location of these genes was assessed, it was observed that most of these belonged to Chromosomes 11, 1 and 3 in sequential manner. The pathway analysis shows that these genes are involved in the regulation of heart rate, action potential, cardiac muscle cell contraction and heart contraction. The protein-protein interaction network was also very big and highly interactive. SCN5A, CAV3, ALG10B, AKAP9 and many more were mainly found in these cases and were regulated by many transcription factors such as MYOG C2C1 and CBX3 HCT11. Micro RNA, “hsa-miR-133a-3p” was found to be prevalent in the targeted genes.Conclusions: Molecular and computational approaches are a step forward toward exploration of these sad demises. It is so far a new arena but seems promising to dig out the genetic cause of SIDS in the years to come.