Association of fragile X syndrome, Robertsonian translocation (13, 22) and autism in a child.

We describe the case of a 6-year-old boy with both fragile X syndrome and Robertsonian Translocation (45, XY, der (13; 22) (q10; q10)). This is the first reported case of a patient with fragile X syndrome with this Robertsonian translocation. Facial features and macroorchidism were consistent with fragile X syndrome.

Can Apparent Diffusion Coefficient Predict the Clinical Outcome in Drowned Children?

Introduction: Pediatric cerebral hypoxic-ischemic injury frequently results in severe neurological outcome. Imaging with diffusion-weighted magnetic resonance imaging (DWi) demonstrates that the acute cerebral injury and apparent diffusion coefficient (ADC) allow the assessment of the severity of brain damage. The main objective was to examine if spatial distribution of reductions in ADC values is associated with clinical outcome in drowned children.

Ivemark syndrome-a rare entity with specific anatomical features.

Ivemark syndrome (IS) is a rare embryological disorder which results from failure of development of the left-right asymmetry of organs. It is often associated with cardiac and other organ abnormalities, which are the usual causes of death in early neonatal life. We report a 3 months old girl with IS with dextrocardia, transposition of the great vessels, atrio-ventricular connection, total anomalous pulmonary venous drainage, a right atrial and right pulmonary isomerism, a midline liver, a midline gallbladder, asplenia, intestinal malrotation and vena cava anomalies.

The activity of 8-iso-prostaglandin F2alpha as an oxidative stress marker in vivo in paediatric patients with type 1 diabetes mellitus and associated autoimmunities.

Background: Oxidative stress and inflammatory reactions are known to hold an important role in the etiopathogeny and persistence of acute or chronic clinical entities. Isoprostanes--a group of prostaglandin-like compounds, active products of arachidonic acid--have proved to be representative biomarkers of lipid peroxidation. The aim of this study was to determine the activity of serum 8-iso-prostaglandin F2alpha, (8iPGF2alpha), as an in vivo oxidative stress marker, in paediatric patients with diabetes mellitus type 1 (DM1) and in a control group.