3M Syndrome: A Report of Four Cases in Two Families

3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones an

Delirium in Diabetic Ketoacidosis: A Case Report

A 15-year-old female patient with known type 1 diabetes mellitus was referred because of abdominal pain. On admission, she was alert but dehydrated with marked Kussmaul breathing. Blood glucose was 414 mg/dL (23 mmol/L). Blood gas analysis revealed severe metabolic acidosis (pH: 6.99) with an elevated anion gap (29.8 mmol/L) and an increased base excess (-25.2 mmol/L). At the sixth hour of treatment with intravenous fluids and insulin, the patient became delirious. The delirium persisted despite the normalization of the acidosis and became difficult to manage. Brain imaging studies revealed neither brain edema nor other intracranial pathology. No evidence of intoxication could be found. The patient gradually regained consciousness and was diagnosed as a case of severe diabetic ketoacidosis (DKA) associated with infection. We were unable to find a similar case in the pediatric literature and thought that reporting this unusual case would be a contribution to the literature on DKA in children

Evaluation of Hydration Status of Obese Children A Pilot Study

WOS: 000445204102131

Two Siblings with Alstrom Syndrome

WOS: 000445204103155

Should Patients with Down Syndrome be Screened for Testicular Microlithiasis?

BackgroundTesticular microlithiasis (TM) is a rare condition characterized by asymptomatic calcification of seminiferous tubules and is considered as a precursor of testicular germ cell tumors. The prevalence of TM has been reported higher in patients with Down syndrome (DS) than general population. Our aim was to determine the prevalence of TM in our patients with DS

Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets

Cavalier, Etienne/0000-0003-0947-2226; Shi, Yufei/0000-0002-6999-0191WOS: 000553452200045PubMed: 31821448Context. Hypophosphatemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5, SLC9A3R1, SLC34A1, or SLC34A3. Objective. A large kindred with 5 HR patients was recruited with dominant inheritance. the study was undertaken to investigate underlying genetic defects in HR patients. Design. Patients and their family members were initially analyzed for PHEX and FGF23 mutations using polymerase chain reaction sequencing and copy number analysis. Exome sequencing was subsequently performed to identify novel candidate genes. Results. PHEX and FGF23 mutations were not detected in the patients. No copy number variation was observed in the genome using CytoScan HD array analysis. Mutations in DMP1, ENPP1, CLCN5, SLC9A3R1, SLC34A1, or SLC34A3 were also not found by exome sequencing. A novel c.979-96 T>A mutation in the SGK3 gene was found to be strictly segregated in a heterozygous pattern in patients and was not present in normal family members. the mutation is located 1 bp downstream of a highly conserved adenosine branch point, resulted in exon 13 skipping and in-frame deletion of 29 amino acids, which is part of the protein kinase domain and contains a Thr-320 phosphorylation site that is required for its activation. Protein tertiary structure modelling showed significant structural change in the protein kinase domain following the deletion. Conclusions. the c.979-96 T>A splice mutation in the SGK3 gene causes exon 13 skipping and deletion of 29 amino acids in the protein kinase domain. the SGK3 mutation may cause autosomal dominant HR.KACST Biotech grant [13-MED1765-20]This study is supported by a KACST Biotech grant 13-MED1765-20