Radioactive Releases Impact from Kozloduy Nuclear Power Plant, Bulgaria into the Environment

The aim of this paper is to present a general overview of the radioactive releases impact generated by Kozloduy Nuclear Power Plant (KNPP), Bulgaria to the environment and public. The liquid releases presented are known as the so called controlled water discharges, that are generated after reprocessing of the inevitable accumulated liquid radioactive waste in the plant operation process. The radionuclides containing in the liquid releases are given in the paper as a result of systematic measuring. Database for radiation doses evaluation on the public around Kozloduy NPP site is developed using IAEA LADTAP computerized program. The computer code LADTAP represents realization of a model that evaluates the public dose as a result of NPP releases under normal operation conditions. The results of this evaluation were the basic licensing document for a new liquid release limit

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology. Exome sequencing was applied to 1001 undiagnosed patients recruited from more than 40 neuromuscular disease referral centers; standardized phenotypic information was collected for each patient. Exomes were examined for variants in 429 genes associated with muscle conditions. We identified suspected pathogenic variants in 52% of patients across 87 genes. We detected 401 novel variants, 116 of which were recurrent. Variants in CAPN3, DYSF, ANO5, DMD, RYR1, TTN, COL6A2, and SGCA collectively accounted for over half of the solved cases; while variants in newer disease genes, such as BVES and POGLUT1, were also found. The remaining well-characterized unsolved patients (48%) need further investigation. Using our unique infrastructure, we developed a pathway to expedite muscle disease diagnoses. Our data suggest that exome sequencing should be used for pathogenic variant detection in patients with suspected genetic muscle diseases, focusing first on the most common disease genes described here, and subsequently in rarer and newly characterized disease genes

Polycrystalline corundum dies for pencil graphites

22.00; Translated from Bulgarian (Mashinostroene 1986 (8) p. 361-363)Available from British Library Document Supply Centre- DSC:9022.0601(BISI-EM-Trans--129)T / BLDSC - British Library Document Supply CentreSIGLEGBUnited Kingdo