Charcot-Marie-Tooth disease type 2 (CMT2S) is rare form of Charcot-Marie-Tooth disease (CMT) that is characterized by a mutation in the IGHMBP2 gene. This gene encodes a helicase superfamily member that binds a specific DNA sequence from the region of the immunoglobulin mu chain switch. Mutation of this gene leads to spinal muscle atrophy with respiratory distress type 1 and CMT2S. This case report presents a 20-year-old male with genetically confirmed CMT2S having clinical respiratory involvement and symmetrically involved lower extremities. DNA sequencing revealed a previously unknown heterozygous mutation in the exone 2 of the IGHMBP2 gene leading to the replacement of the amino acid in the 46 position of the protein (chr11q13.3: 68673587 G>C). These atypical features widen the clinical spectrum of CMT2S. This is the first described case of a previously unknown mutation in the Russian population with confirmation of its genetic study. In describing this clinical case, we also improve diagnostic management and try to increase the alertness of various doctors towards neuromuscular diseases, including CMT. (International Journal of Biomedicine. 2017;7(4):324-326.)

The purpose of this research was to evaluate asthma control in Krasnoyarsk patients using E.Bateman's criteria, GOAL and ACTTM . We examined 480 patients (both genders; 18 to 70 years old) with asthma of different severity. The patients were divided into 2 groups: the 1st group (n = 1250) was examined by primary care practitioners using the ACT™ alone and received different basic medications, the 2nd group patients (n = 230) had been taught at asthma-schools; they were treated with fixed combination of fluticasone and salmeterol (Seretide) and were tested with E. Bateman's criteria, GOAL and ACTTM . According to the ACTTM , 16 % of the 1st group patients had asthma controlled and 86 % had < 19 points. In the 2nd group, asthma control was achieved in 87 % of the patients. When compared ACT TM with E.Bateman's criteria and GOAL, results were equal. Basic therapy adequate to asthma severity, regular follow-up, continuous education of patients allowed achievement of asthma control. The ACT TM use led to objective results with similar interpretation in various patients which allows assessing asthma control and efficacy of treatment.

IntroductionThe gene CYP2D6 is of great interest also due to its highly polymorphic nature, and involvement in a high number of medication metabolisms. The presence of polymorphisms in the CYP2D6 gene may modulate enzyme level and activity, thereby affecting individual responses to pharmacological treatment.Materials and methodsAllele and genotype frequency distributions of CYP2D6*10 variants and predicted phenotypes were analyzed in blood samples of 123 patients (53 patients from north-western region and 69 patients from Siberian region) using polymerase chain reaction (PCR)-restriction fragment length polymorphism, PCR-single-strand conformation polymorphism.ResultsThe T/T, C/T, and C/C genotype frequencies of the CYP2D6*10 allele were significantly different (P < 0.01) in regional groups. The frequency of the wild homozygous variant C/C of the CYP2D6*10 allele (extensive metabolizers) in the Siberian region was the highest, while the north-western region of Russia had the lowest frequency (P < 0.001), which are 82.6% and 64.2%, respectively. The frequency of the heterozygous variant C/T of the CYP2D6*10 allele (intermediate metabolizers) was significantly a bit high in the north-western region, while the Siberian region of Russia had the lowest frequency (P < 0.001), which are 35.8% and 17.4%, respectively. The homozygous variant T/T of theCYP2D6*10 allele (poor metabolizers) was not identified.ConclusionThe C100T polymorphism of the CYP2D6 gene may be associated with several drug-induced reactions in patients with depression, schizophrenia, epilepsy etc. The differences in the prevalence of intermediate metabolizers in north-western and Siberian regions of Russia may be due to genetic drift and accumulation of alleles typical of European and Asian populations.Disclosure of interestThe authors have not supplied their declaration of competing interest.