Novel trinucleotide deletion in Fabry's disease

We describe the molecular characterization of a novel, in-frame deletion that is located in exon 7 of the -galactosidase A gene in a patient with Fabry's disease. The 3-bp deletion we identified, besides the typical severe clinical features, also expresses diffuse facial telangiectasias, which is a new cutaneous marker of Fabry's disease.     

Purification and characterization of calcium-binding conchiolin shell peptides from the mollusc,Haliotis rufescens,as a function of development

Summary Conchiolin peptides of the molluscan shell are believed to determine structural organization and facilitate calcification during shell formation. Changes in patterns of conchiolin synthesis during development, and the possible contribution of these peptides to shell formation, have been investigated by purification and characterization of the soluble peptides extracted from the shell of the gastropod mollusc,Haliotis rufescens (red abalone), at various stages of development. Shell peptides were purified from young post-larvae, juveniles and adults by gel-filtration column chromatography in aggregation-reducing bicarbonate buffers. Calcium-binding domains were detected spectrophotometrically after reaction with a cationic carbocyanine dye. Juvenile and adult shell peptides were found to be heterogeneous, and rich in aspartic acid and glycine residues; in contrast, post-larval shells were found to contain one major glycine-rich component. The juvenile shell peptide population shares components from each of the other two populations, suggesting that the synthesis of the different shell peptides results from the differential expression of a multi-gene family, in a developmentally controlled progression. Enzymatic analyses suggest that calcium binds to the aspartic acid residues of the peptide core, rather than to satellite groups such as phosphate, sulfate or carbohydrate. The possibility is discussed that the aspartic acid residues found in shell peptides may play an important role in the calcification of the abalone shell matrix. The methods demonstrated here also should prove useful for the purification, characterization, and comparative analysis of calcium-binding proteins of connective tissues, extracellular matrices and support structures in many other systems.Abbreviations Asp aspartic acid - BSA bovine serum albumin - Da daltons - EDTA ethylenediaminetetraacetic acid - GABA -aminobutyric acid - HPLC high-pressure liquid chromatography - ODS octadecylsilane - OPA o-phthaldialdehyde - SDS sodium dodecyl sulfate     

Prevalence of adult ADHD in an all-female prison unit

There is increasing evidence suggesting a link between ADHD and criminality, including a strong association between ADHD symptoms and the likelihood of being on probation or in prison. Most studies investigating the prevalence of ADHD in prison populations have focused on adult male offenders. In the current study, 69 female prisoners were screened for both childhood and adult ADHD symptoms using the Barkley Adult ADHD Rating Scale-IV. The results indicate that 41 % of the prisoners met the diagnostic criteria for ADHD in childhood and continued to meet criteria for ADHD as adults. More importantly, young female prisoners (aged 18–25) were significantly more likely to report symptoms of ADHD than older prisoners. Prisoners who reported symptoms of ADHD also reported high levels of impairment associated with these symptoms. A better understanding of the prevalence of ADHD in female prison units can highlight specific areas for intervention during rehabilitation, as well as the management of serious incidents within prison.     

Neural Differentiation of Mouse Embryonic Stem Cells in Serum-free Monolayer Culture

The ability to differentiate mouse embryonic stem cells (ESC) to neural progenitors allows the study of the mechanisms controlling neural specification as well as the generation of mature neural cell types for further study. In this protocol we describe a method for the differentiation of ESC to neural progenitors using serum-free, monolayer culture. The method is scalable, efficient and results in production of ~70% neural progenitor cells within 4 - 6 days. It can be applied to ESC from various strains grown under a variety of conditions. Neural progenitors can be allowed to differentiate further into functional neurons and glia or analyzed by microscopy, flow cytometry or molecular techniques. The differentiation process is amenable to time-lapse microscopy and can be combined with the use of reporter lines to monitor the neural specification process. We provide detailed instructions on media preparation and cell density optimization to allow the process to be applied to most ESC lines and a variety of cell culture vessels.