Objectives:To investigate the most common underlying organisms, and associated urological anomalies in children presenting with urinary tract infection (UTI).Methods:Retrospectively, all children with confirmed UTI between October 2013 and February 2014 were evaluated at King Abdulaziz University Hospital, Riyadh, Kingdom of Saudi Arabia. The electronic files of 279 children presenting with UTI, aged less than 5 years were reviewed.Results:A total of 153 patients (85 males) with a mean (SD) age of 15 (19.86) months were included in the study. Recurrent UTI was present in 45.1%. Urine collection in children less than 2 years of age was through trans-urethral catheterization in 69.4%, while midstream urine was the main method in those above 2 years (78.6%). Escherichia coli (E. coli) was the causative organism in 41.2% of first UTI. The second most common organism was Klebsiella Pneumoniae, seen in 19.6%. Urological anomalies were found in 28.1% of the overall study population. Ninety percent of those with single UTI did not have anomalies. However, urological anomalies were reported in 50.7% of those with recurrent episodes of UTI (p<0.005). Non-E. coli cases were associated with a higher percentage of abnormal renal ultrasonography results (p=0.006).Conclusion:Escherichia coli was the most common causative organism for UTI, and a single episode of UTI signified normal urological anatomy.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of variable presentation caused by the deficiency of the 3β- hydroxycholesterol Δ(7) - reductase. Over the past 10 years, our biochemical laboratory has screened 191 plasma samples for possible SLOS, measuring the plasma cholesterol and 7-dehydrocholesterol using gas chromatography-mass spectrometry (GC-MS). The SLOS was confirmed in only five Arab patients with growth retardation, global developmental delay, dysmorphic features, and 2-3 toe syndactyly, among other findings. All cases represented moderate to severe form of SLOS. One patient had a unique cardiovascular malformation (cor triatriatum with significant obstruction of the right pulmonary veins). Two previously reported N287K (861 C>A) and R352Q (1055 G>A) and a novel R352L (1055 G>T) mutations were identified in the DHCR7 gene in these patients. The paper sheds light on this rare disease among Arabs and reviews all reported SLOS cases in the Arab population.

Objectives: To assess the health-related quality of life (HRQOL) of children from a community in Jeddah, Saudi Arabia, excluding those with known chronic illnesses. Methods: Four schools in Jeddah participated in this cross-sectional study, which was conducted from February 2018 to February 2019. The parents of 5-14 year-old children were surveyed using the validated Arabic version of the Child Health Questionnaire-Parent Form 50 (CHQ-PF50). It consisted of 50 items divided into 15 scales (namely, 11 multi-item and 4 single-item scales) and expressed as scores of 0-100, with higher scores indicating better HRQOL. The levels of HRQOL were analyzed and compared. Results: The parents of 498 children answered the questionnaire. The mean scores of CHQ-PF50 subscales were relatively high (>80) in 8 out of 15 domains. However, relatively low scores were observed for general health perception (70.01), behavior (73.70), and mental health (75.65). Boys scored lower in behavior (difference of means =-5.80), global behavior (-4.47), mental health (-4.81), general health perception (−2.59), parental impact-emotional (-5.11), family activities (-1.77), and family cohesion (-2.19). Furthermore, adolescent boys scored lower in global health, mental health, global behavior, and parental impact. Conclusion: This study showed globally adequate levels of HRQOL among Saudi children, with some limitations in behavior and mental health, especially in boys and adolescents.

Background and Objective: Systemic-onset juvenile idiopathic arthritis (JIA) is a major and prevalent subset of arthritis among children and it has a broad spectrum of clinical presentation, course and prognosis. This study described the clinical presentation of systemic-onset JIA in a Saudibased cohort. Methods: A retrospective chart review was performed of the medical records of children with systemic-onset JIA who were followed up at King Abdul Aziz University Hospital, Jeddah, between January 1997 and December 2013. Patients' files were reviewed for demographic, clinical, and paraclinical data, which were analyzed using the statistical Package for the Social Sciences. Results: We included 20 patients of both genders (8 boys and 12 girls). The mean age of disease onset was 7 (4.5) years. The most common presenting symptoms were fever (100%), arthritis (100%), and rash (55%). Hepatomegaly (5%), abdominal (5%) and pulmonary manifestations (3%) were less frequent manifestations. Most patients had high white blood cell counts (50%), elevated erythrocyte sedimentation rates (80%) and C-reactive protein levels (90%). The interval between onset of symptoms and diagnosis was 9.4 (12.5) weeks. Patients were treated with non-steroidal anti-inflammatory drugs, methotrexate, steroids, anti-tumor necrosis agents, and disease-modifying anti-rheumatic drugs. Bone marrow biopsy was conducted to exclude malignancy in 20% of the patients. Conclusion: Saudi children with systemic-onset JIA present with prolonged fever and arthritis (mainly oligoarticular rather than polyarticular). Physicians should be aware of the presentation of systemic-onset JIA in our setting in order to make prompt diagnosis and treatment decisions as early as possible. Carful follow-up of febrile patients is paramount to reaching the diagnosis early and initiating treatment.