Two novel mutations identified in familial cases with Donohue syndrome.

Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We report the clinical, molecular, and biochemical characterization of three new patients with DS, and address genotype-phenotype issues playing a role in the pathophysiology of DS. A female infant born to first-degree cousins Muslim Arab parents and two brothers born to first-degree cousins Druze parents presented classical features of DS with hypertrophic cardiomyopathy and died in infancy.

Cellular and clinical report of new Griscelli syndrome type III cases.

The RAB27A/Melanophilin/Myosin-5a tripartite protein complex is required for capturing mature melanosomes in the peripheral actin network of melanocytes for subsequent transfer to keratinocytes. Mutations in any one member of this tripartite complex cause three forms of Griscelli syndrome (GS), each with distinct clinical features but with a similar cellular phenotype. To date, only one case of GS type III (GSIII), caused by mutations in the Melanophilin (MLPH) gene, has been reported.

Prolidase deficiency: it looks like systemic lupus erythematosus but it is not.

Three siblings with recalcitrant leg ulceration, splenomegaly, photosensitive rash, and autoantibodies were suspected of having prolidase deficiency. Urine was checked for iminodipeptiduria, fibroblasts were cultured and analyzed for prolidase activity, and DNA was extracted for identifying the causative mutation. Glycyl proline was found as the dominant dipeptide in the urine.

Atrial natriuretic Peptide in young and elderly children with mild gastroenteritis.

Objective: Atrial Natriuretic Peptide (ANP) has natriuretic and diuretic effects, synthesized and stored in the atrial cells, released in response to stretch of the atrial muscle during increase venous return. Acute gastroenteritis (AGE) causes dehydration. We intend to determine whether the decrease in venous return due to dehydration would lead to a decrease in ANP levels.

Acute otitis media in the first two months of life: characteristics and diagnostic difficulties.

Objective: To assess the clinical and laboratory features of acute otitis media (AOM) in infants younger than 2 months, to look for factors predicting bacterial otitis, and to evaluate the accuracy of AOM diagnosis among paediatricians.

Methods: The study population comprised a cohort of 277 hospitalised infants up to 61 days old that were treated for the first episode of AOM in a paediatric department. We reviewed their medical records and analysed the demographic, clinical and laboratory data, and the diagnosis made by both paediatricians and otolaryngologists.