Glycine conjugation of para-aminobenzoic acid (PABA): a quantitative test of liver function

N-Acetyl aspartate (NAA) is the second most abundant amino acid in the human brain. NAA is synthesized by L-aspartate N-acetyl transferase or by cleavage from N-acetyl aspartyl glutamate by N-acylated alpha-linked L-amino dipeptidase (NAALADase); and it is catabolized to acetate and aspartate by N-acetyl aspartate amino hydrolase (amino acylase II). NAA is localized primarily to neurons, where it is concentrated in the cytosol. Although NAA is devoid of neurophysiological effects, it serves as an acetyl donor, an initiator of protein synthesis or a carbon transfer source across the mitochondrial membrane. The concentration of NAA in human brain increases 3-fold between midgestation and adulthood. In Canavan's Disease, an autosomal recessive disorder due to a null mutation in amino acylase II, NAA levels in brain are markedly increased and disrupt myelination. NAA levels have been found to be reduced in neurodegenerative disorders, including Alzheimer's Disease and Huntington's Disease. Since endogenous NAA can be readily detected in human brain by magnetic resonance spectroscopy, it is increasingly being exploited as a marker for functional and structural integrity of neurons in an expanding number of disorders.     

Mitral valve prolapse with atrioventricular and sinoatrial node abnormalities of long duration

A 20-hear-old patient with mitral valve prolapse and minimal mitral regurgitation associated with intermittent marked sinus bradycardia and sinus arrhythmia, and atrioventricular block, proximal to the bundle of His, varying from first-degree to high-grade, is described. Both the murmur and the atrioventricular block had been documented since the age of eight years, and probably since the first year of life, and has shown no subsequent progression. The patient's symptoms of chest pain and severe lightheadedness and near syncope have been shown by telemetry electrocardiogrphic monitoring to be unrelated to changes in cardiac rhythm.     

Stereochemical requirements for intercalation of platinum complexes into double-stranded DNA's

The complexes 1,10-phenanthrolineethylenediamineplatinum(II) and 2,2'-bipyridineethylenediamineplatinum(II) have a planar, aromatic ligand system that facilitates intercalation, as shown by their ability to unwind closed circular duplex DNA. Nonbonded steric interactions can rotate the pryidine ligands out of the coordination plane in bis(pyridine)ethylenediamineplatinum(II), thus preventing intercalation. Fiber x-ray diffraction patterns of the two metallointeracalators indicate that the binding is governed by the neighbor exclusion principle.     

Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false-positive serological test for syphilis

Elliptocytosis, multiple lipomatosis, and biological false-postive serological test for syphilis (BFPSTS) were found in a single individual. One hundred eighty relatives were tested for the three diseases: 74 were typed for seven blood group antigens, and 58 were typed for four electrophoretic enzyme markers. Likelihood analysis of the pedigree data confirmed independent dominant inheritance for elliptocytosis and lipomatosis. BFPSTS appears dominant, but the analysis was inconclusive. No linkages were found between any disease gene and any marker gene. Two female pedigree members with BFPSTS developed systemic lupus erythematosus, a finding in agreement with the previously described association. The analysis did not lead to any conclusions about the causal relationship between the two traits.     

Ejaculatory duct obstruction

The diagnosis, long-range pathophysiology and surgical approach to ejaculatory duct obstruction are presented. Of 5 cases 3 had epididymal extravasation from long-term pressure buildup and secondary epididymal obstruction. This is similar to the epididymal findings after long-term vasectomy.