A dysmorphic newborn infant with a complex rearrangement involving chromosomes 2, 4, and 6 detected by fluorescence in situ hybridization (FISH).

A newborn female infant with multiple congenital anomalies was found to have an unusual and abnormal karyotype. Cytogenetic studies revealed an apparent balanced translocation between chromosome 4q31.3 and chromosome 6q25.

Splenic arteries and veins in pediatric sickle cell disease.

The goal of this study was to verify the existence and prevalence of large vessel lesions outside the central nervous system in young patients with sickle cell disease. Thus, 17 spleens resected because of episodes of sequestration or infarction and 41 controls were studied. Anomalies of arteries and veins were detected in all spleens from sickle cell disease patients, but no definite correlation with age, sex, type of sickle hemoglobin, or frequency of sequestration episodes could be established.

Chromosome rearrangement with no apparent gene mutation in familial adenomatous polyposis and hepatocellular neoplasia.

We have identified a constitutional inversion in chromosome 5 associated with familial adenomatous polyposis in three generations of a Mexican family. Two of three siblings developed hepatic neoplasia in infancy. The gene truncation assay failed to demonstrate a truncated protein in the segment harboring the adenomatous polyposis coli (APC) genes.

Spermine dependent activation of the N-methyl-D-aspartate receptor and the effect of nitric oxide synthase inhibition during hypoxia in the cerebral cortex of newborn piglets.

This study tests the hypothesis that brain tissue hypoxia results in modification of spermine-dependent activation of the cerebral N-methyl-D-aspartate (NMDA) receptor ion-channel in newborn piglet brains and that pretreatment with N(omega)-nitro-L-arginine (NNLA), an inhibitor of nitric oxide synthase, will reduce the hypoxia-induced modification of the spermine-dependent activation of the receptor. Piglets were assigned to one of four groups; normoxia or hypoxia with or without NNLA. The infusion of NNLA or vehicle lasted for 60 min while the animals were ventilated under either hypoxic or normoxic conditions.

Cellular mechanisms of hypoxic injury in the developing brain.

The susceptibility of the developing brain to hypoxia should depend on the lipid composition of the brain cell membrane; the rate of lipid peroxidation; the presence of antioxidant defenses; and the development and modulation of the excitatory neurotransmitter receptors such as the N-methyl-D-aspartate (NMDA) receptor, the intracellular Ca++ and intranuclear Ca++-dependent mechanisms. In addition to the developmental status of these cellular components, the response of these potential mechanisms to hypoxia determines the fate of the hypoxic brain cell in the developing brain. In the fetal guinea pig and newborn piglet models, studies have demonstrated that brain tissue hypoxia results in brain cell membrane damage as evidenced by increased membrane lipid peroxidation and decreased Na+,K+-ATPase activity.

Hypertrophic obstructive cardiomyopathy in an infant of a diabetic mother: support by extracorporeal membrane oxygenation and treatment with beta-adrenergic blockade and increased intravenous fluid administration.

In infants with hypertrophic obstructive cardiomyopathy (HOCM) on extracorporeal membrane oxygenation (ECMO), conventional treatment with inotropes, fluid restriction, and diuretics may be detrimental. This case reports an infant of a diabetic mother with HOCM on ECMO illustrating beneficial effects of beta adrenergic blockade and increased fluid administration.