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Renal excretions of the drug Histochrome contained echinochrome, the drug substance; 2(3)-methoxyechinochrome derivatives; and monoglucuronides of 2(3)-methoxy-, 2,3-dimethoxy-, 2,6-dimethoxy-, and 3,6-dimethoxyechinochrome derivatives according to HPLC-MS (high resolution) using a deuterated label.

Phosphorus diffusion in crystalline silicon in doping from a surface source at a temperature of 840°C and a duration of 10 min has been modeled. Good agreement with experimental data has been obtained, which confirms the adequacy of the employed model of high-concentration phosphorus diffusion. This model takes account of the drift of self-interstitials in the field of internal elastic stresses.

Congenital muscular dystrophies are heterogeneous groups of neuromuscular diseases leading to hypotonia, progressive muscle weakness and dystrophic or structural signs in muscle biopsy. At the present time, 34 genes associated with congenital muscular dystrophy have been described. The clinical case of a rare form of congenital muscular dystrophia associated with a homozygous mutation in the TRIP4 gene in a patient with respiratory failure requiring respiratory support, neurological symptoms, muscular hypotonia, and multiple congenital malformations of skeletal system is presented for the first time in Russia. The undescribed pathogenic homozygous variant of the nucleotide sequence in the TRIP4 gene (chr15:64686179, c.136CT, p.Arg46Ter, 2 exon, NM_016213.4) was detected by whole exome sequencing. The mutation in the TRIP4 gene was validated by Sanger sequencing in a child and its origin was investigated. The mother and father of the girl are carriers of the heterozygous variant in the TRIP4 gene. Identification of the genetic cause of a rare form of neuromuscular disease is important for determining the tactics of patient management and medical and genetic counseling of the family, as well as clarifying the pathogenesis of a rare pathology.