Persistent Unresolved Inflammation in the -308 Female Mutated Mouse Model of Rett Syndrome.

Rett syndrome (RTT) is a rare neurodevelopmental disorder usually caused by mutations in the X-linked gene (). Several mutant mouse lines have been developed recapitulating part of the clinical features. In particular, -308 female heterozygous mice, bearing a truncating mutation, are a validated model of the disease.

Increased plasma concentrations of antiprothrombin antibodies in women with recurrent spontaneous abortions.

Background: Antiphospholipid antibodies are associated with recurrent fetal loss, but the clinical relevance of antiprothrombin (aPT) antibodies remains controversial. This study was designed to evaluate the relationship of plasma concentrations of aPT antibodies (IgG, IgM, and IgA isotypes) and recurrent spontaneous abortion (RSA) not associated with antiphospholipid-antibody syndrome.

Methods: In this retrospective case-control study, we measured plasma aPT antibodies in 100 pregnant women at 8-12 weeks of gestation who had histories of recurrent abortion not associated with antiphospholipid-antibody syndrome.

Enzyme activities leading to NAD synthesis in human lymphocytes.

Pyridine nucleotide levels and the activities of enzymes involved in NAD synthesis (nicotinic acid phosphoribosyltransferase, nicotinic acid- and nicotinamide mononucleotide-adenylyltransferase) have been assayed in human normal lymphocytes by an HPLC method using radioactive or nonradioactive substrates. NAD concentration was 46.4 +/- 17.

Biochemical and MALDI analysis of the human sperm antigen gp20, homologue of leukocyte CD52.

In previous work we demonstrated that gp20, a sialoglycoprotein of human sperm is homologous to the leukocyte antigen CD52 and that anti-gp20 recognizes an antigen of the same molecular weight as that recognized by CAMPATH-1 (anti CD52) in leukocytes and sperm, but with some differences. In this study we used anti-gp20 to perform immunoblot analysis of many different sperm, seminal plasma and leukocyte samples. The sperm and seminal plasma antigens were similar and appeared to consist of two components, whereas the leukocyte antigen is unique.

Purine and pyridine nucleotide metabolism in the erythrocytes of patients with Rett syndrome.

The possible involvement of purine and pyridine metabolism in Rett syndrome, a neurodegenerative disorder of unknown aetiology affecting females, was investigated. The levels of purine and pyridine nucleotides and their metabolites were determined by HPLC in the erythrocytes and plasma of 31 Rett patients and of 17 age-matched controls. Nucleotide production rate from extracellular precursors was determined in intact cells and enzyme activities were assayed in crude lysates using the same HPLC method.