Novel mutations in sarcomeric protein genes in dilated cardiomyopathy

Mutations in sarcomeric protein genes have been reported to cause dilated cardiomyopathy (DCM). In order to detect novel mutations we screened the sarcomeric protein genes beta-myosin heavy chain (MYH7), myosin-binding protein C (MYBPC3), troponin T (TNNT2), and alpha-tropomyosin (TPM1) in 46 young patients with DCM. Mutation screening was done using single-strand conformation polymorphism (SSCP) analysis and DNA sequencing. The mutations in MYH7 were projected onto the protein data bank-structure (pdb) of myosin of striated muscle. In MYH7 two mutations (Ala223Thr and Ser642Leu) were found in two patients. Ser642Leu is part of the actin-myosin interface. Ala223Thr affects a buried residue near the ATP binding site. In MYBPC3 we found one missense mutation (Asn948Thr) in a male patient. None of the mutations were found in 88 healthy controls and in 136 patients with hypertrophic cardiomyopathy (HCM). Thus mutations in HCM causing genes are not rare in DCM and have potential for functional relevance.     

PMR spectral analysis of some peptide alkaloids

220 MHz PMR spectra of the peptide alkaloids discarine B and frangulanine have been recorded and the signals assigned. Studies of solvent and temperatu     

A Re-Evaluation of the Place of Major Extirpation in the Management of Patients with Metastatic Mammary Carcinoma

Clearly defined indications for major extirpation procedures in metastatic mammary carcinoma are lacking. A reassessment of experience with 222 patients (133 after adrenalectomies and 89 after hypophysectomies) was therefore undertaken. This experience has changed our previous opinions that such procedures should be used only at the end of a sequential program of treatment.It is now felt that extirpation is only contraindicated in menopausal women with a duration of disease less than two years or when there is symptomatic disease of vital organs. Otherwise, early extirpation is recommended. When vital organ involvement is recognized in the asymptomatic stage or when screening of premenopausal women by castration indicates continuing hormonal dependency, then early extirpation is indicated.Both the qualitative and the quantitative responses achieved exceed those obtained by other measures when widely disseminated disease is present. The objective remission rate (34% after adrenalectomy and 19% after hypophysectomy) for longer than six months is worth while.     

Frequency of the ΔF508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families

Summary This study analyses distribution patterns of the ΔF508 mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR) gene and the cystic fibrosis (CF)-linked marker loci MET, D7S23, D7S399, and D7S8 in a sample of 167 (116 complete) CF families from Bohemia and Moravia (Czechoslovakia). DNA typing was performed by polymerase chain reaction amplification, restriction analysis, and agarose or polyacrylamide gel electrophoresis. The frequency of the ΔF508 mutation in this sample is 67% and the frequency of the B haplotype is 77.6% on CF chromosomes. Linkage disequilibrium was found between ΔF508 and all markers tested.