Serum glial fibrillary acidic protein as a biomarker of brain injury in premature neonates.

Neonatal brain injury is a serious adverse outcome of prematurity. Early detection of high risk premature neonates to develop neonatal brain injury is not currently feasible. The predictive value of many biomarkers has been tested, but none is used currently in clinical practice.

S100B as a biomarker of brain injury in premature neonates. A prospective case - control longitudinal study.

Background: Neonatal brain injury (NBI) is a serious adverse outcome in premature neonates. We sought to determine the levels and prognostic value of serum S100B during the first three days of life in premature neonates (<34 weeks) that later developed NBI in the form of either intraventricular hemorrhage (IVH) or periventricular leukomalacia (PVL).

Methods: This is a prospective case - control longitudinal study.

Replacement of Male Mini-Puberty.

Context: Clinical management of congenital hypogonadotropic hypogonadism (CHH) remains a challenge in pediatric endocrinology.

Objective: To investigate whether daily subcutaneous injections of the recombinant human LH/FSH preparation could mimic the physiological male mini-puberty.

Design And Setting: The REMAP (REplacement of MAle mini-Puberty) study with up to 10 years of follow-up.

Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.

Background: Niemann-Pick type C disease (NPC) is an autosomal recessive, neurovisceral, lysosomal storage disorder with protean and progressive clinical manifestations, resulting from mutations in either of the two genes, NPC1 (~95% of families) and NPC2. Contrary to other populations, published evidence regarding NPC disease in Greece is sparse.

Methods: The study population consisted of two Greek NPC patients and their extended pedigree.

Atrial natriuretic peptide in children with idiopathic hypercalciuria.

We measured plasma atrial natriuretic peptide (ANP) levels in 30 children with idiopathic hypercalciuria (IH) and 19 normal controls (NC). A calcium (Ca) loading test was performed in all patients to determine the type of IH. Subsequently plasma ANP, cAMP and renin activity (PRA), serum total and ionized Ca, intact parathyroid hormone, aldosterone, and 1,25-dihydroxyvitamin D as well as urine Ca, cAMP, and electrolytes were determined in all subjects.