Whole Exome Sequencing Achieved a Definite Diagnosis of Kaufman Oculocerebrofacial Syndrome in a Bahraini Family: A Case Report.

A 1 year and 7 months old girl presented to the medical genetic clinic as a referral from the pediatrics clinic. Upon examining the patient and assessing past medical history, an autosomal recessive disorder was suspected. The family underwent whole exome sequencing, which resulted in the diagnosis of Kaufman oculocerebrofacial syndrome (OMIM #244450) in the patient due to the fact that both parents were heterozygous carriers of a novel pathogenic variant in the gene that lies on 12q24.

Vitamin-D Status and Clinical Outcomes in Critically Ill Children.

Aims And Background: To study if 25-hydroxy cholecalciferol levels correlate with clinical outcomes in a cohort of critically ill children requiring pediatric intensive care unit (PICU) admission.

Materials And Methods: All children between the ages of 1 month and 14 years admitted to a PICU were included in this study. The vitamin-D level was measured within 24 hours of admission to the PICU for each patient.

Fontaine progeroid syndrome-A case report.

Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.

Prevalence and Resistance Patterns of Pediatric Urinary Tract Infections in Bahrain.

Background Urinary tract infections (UTI) are a commonly encountered infection in the pediatric age group. Knowledge of the causative pathogens and their antimicrobial resistance patterns in specific geographical locations is important to provide optimum care. The aim of this study is to describe the prevalence and the antimicrobial resistance patterns of the pathogens causing UTI in the pediatric age group in one tertiary inpatient Pediatric unit in Bahrain.