0000000000684856
AUTHOR
Walter Fiehn
The autosomal recessive (Becker) form of myotonia congenita
In the last two decades, two genetically distinct forms of myotonia congenita have been identified--an autosomal dominant and an autosomal recessive form. The purpose of this review is to describe the features that enable us to distinguish between these two forms in the absence of sufficient genetic data. Thus far, it can be concluded that the only probable difference between the two forms is in the fatty-acid pattern of muscle phospholipids. Clinical, histologic, ultrastructural, and electromyographic investigation may prove helpful, but they alone cannot provide a reliable means of identifying the genotype in an individual patient.
Automated Flow Cytometric Analysis of Blood Cells in Cerebrospinal Fluid
We compared the performance of an automated method for obtaining RBC and WBC counts and WBC differential counts in cerebrospinal fluid (CSF) samples with the reference manual method. Results from 325 samples from 10 worldwide clinical sites were used to demonstrate the accuracy, precision, and linearity of the method. Accuracy statistics for absolute cell counts showed a high correlation between methods, with correlation coefficients for all reportable absolute counts greater than 0.9. Linearity results demonstrated that the method provides accurate results throughout the reportable ranges, including clinical decision points for WBCs of 0 to 10/μL. Interassay precision and intra-assay preci…
The CFTR associated protein CAP70 interacts with the apical Cl-/HCO3- exchanger DRA in rabbit small intestinal mucosa.
DRA (down regulated in adenoma) is an intestinal anion exchanger, acting in parallel with NHE3 to facilitate ileal and colonic NaCl absorption. Furthermore it is involved in small intestinal bicarbonate secretion. Because DRA has a PDZ interaction motif, which may influence its properties, we searched for DRA-interacting PDZ adapter proteins in the small intestine. Using an overlay assay with the recombinant DRA C-terminus as a ligand, a 70 kDa protein was labeled, which was restricted to the brush border membrane in rabbit duodenal and ileal mucosa and was not detected in the colon. Destruction of the C-terminal PDZ interaction motif abolished this band, suggesting a specific protein-prote…