Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes

This short communication deals with the questions of how to calculate the expected proportion of compound heterozygous patients among affected offspring of consanguineous parents, and how, from an observed proportion of compound heterozygotes, to calculate both the proportion of homozygotes not identical by descent and the frequency of pathogenic alleles in the population. This estimate of allele frequency may be useful when dealing with populations with a considerable number of consanguineous matings

The formation and development of the managerial personnel reserve on the example of the Tatarstan republic

The article describes the practice of formation the personnel reserve in government and administration of the Tatarstan Republic. Also presents an analysis of candidates for inclusion on the roster consisting of three interconnected successive stages- preparatory, competitive and evolving. The authors emphasize the usage of working with a reserve by the structural subdivisions of the human control and power, as well as individual activity types of reservists

時系列解析による感染症流行の長期趨勢および周期特性 ; 第1報

The growth of a mutant strain of Serratia marcescens with high chitinase activity and the biosynthesis of endochitinase by this strain were investigated. The study was carried out using semisynthetic culture medium without inducers and culture medium containing colloidal chitin as a sole nitrogen and carbon source, with and without mitomycin C. The mutant strain, unlike the native one, was shown to produce endochitinase and to secrete the enzyme into the medium during the growth on culture medium without the inducers, chitin and mitomycin C. During growth on the medium with chitin the mutant strain differed from the native one with a short lag-phase of growth, the early appearance of endochitinase in the culture liquid and a high level of endochitinase activity. The difference between the strains disappeared after the addition of mitomycin C, an inducer of the cell SOS-response, to the culture medium containing chitin. Specific endochitinase activity of S. marcescens mutant strain grown on various culture media had two maxima, namely at the beginning and at the end of the stationary phase. Mitomycin C increased the specific activity in a second peak of endochitinase activity during the growth of the mutant strain

The accumulation of proteins with chitinase activity in the culture media of the parent and mutant Serratia marcescens strain grown in the presence of mitomycin C | Dinamika nakopleniia belkov s khitinaznoi aktivnost'iu v kul'tural'noi zhidkosti mutantnogo shtamma i iskhodnogo shtamma Serratia marcescens v prisutstvii mitomitsina C.

The study of the accumulation pattern of extracellular proteins with chitinase activity in the parent Serratia marcescens strain Bú 211 (ATCC 9986) grown in the presence of mitomycin C and its mutant strain with the constitutive synthesis of chitinases grown in the absence of the inducer showed that chitinase activity appeared in the culture liquids of both strains at the end of the exponential phase (4 h of growth) and reached a maximum in the stationary phase (18-20 h of growth). The analysis of the culture liquids (12 h of growth) by denaturing electrophoresis in PAAG followed by the protein renaturation step revealed the presence of four extracellular proteins with chitinase activity and molecular masses of 21, 38, 52, and 58 kDa

Biosynthesis of endochitinase of Serratia marcescens

The growth of a mutant strain of Serratia marcescens with high chitinase activity and the biosynthesis of endochitinase by this strain were investigated. The study was carried out using semisynthetic culture medium without inducers and culture medium containing colloidal chitin as a sole nitrogen and carbon source, with and without mitomycin C. The mutant strain, unlike the native one, was shown to produce endochitinase and to secrete the enzyme into the medium during the growth on culture medium without the inducers, chitin and mitomycin C. During growth on the medium with chitin the mutant strain differed from the native one with a short lag-phase of growth, the early appearance of endochitinase in the culture liquid and a high level of endochitinase activity. The difference between the strains disappeared after the addition of mitomycin C, an inducer of the cell SOS-response, to the culture medium containing chitin. Specific endochitinase activity of S. marcescens mutant strain grown on various culture media had two maxima, namely at the beginning and at the end of the stationary phase. Mitomycin C increased the specific activity in a second peak of endochitinase activity during the growth of the mutant strain

Predicting suicides after outpatient mental health visits in the Army Study to Assess Risk and Resilience in Servicemembers (Army STARRS).

The 2013 US Veterans Administration/Department of Defense Clinical Practice Guidelines (VA/DoD CPG) require comprehensive suicide risk assessments for VA/DoD patients with mental disorders but provide minimal guidance on how to carry out these assessments. Given that clinician-based assessments are not known to be strong predictors of suicide, we investigated whether a precision medicine model using administrative data after outpatient mental health specialty visits could be developed to predict suicides among outpatients. We focused on male nondeployed Regular US Army soldiers because they account for the vast majority of such suicides. Four machine learning classifiers (naive Bayes, random forests, support vector regression and elastic net penalized regression) were explored. Of the Army suicides in 2004-2009, 41.5% occurred among 12.0% of soldiers seen as outpatient by mental health specialists, with risk especially high within 26 weeks of visits. An elastic net classifier with 10-14 predictors optimized sensitivity (45.6% of suicide deaths occurring after the 15% of visits with highest predicted risk). Good model stability was found for a model using 2004-2007 data to predict 2008-2009 suicides, although stability decreased in a model using 2008-2009 data to predict 2010-2012 suicides. The 5% of visits with highest risk included only 0.1% of soldiers (1047.1 suicides/100 000 person-years in the 5 weeks after the visit). This is a high enough concentration of risk to have implications for targeting preventive interventions. An even better model might be developed in the future by including the enriched information on clinician-evaluated suicide risk mandated by the VA/DoD CPG to be recorded

The accumulation of proteins with chitinase activity in the culture liquids of the parent and mutant Serratia marcescens strains grown in the presence of mitomycin C

The study of the accumulation pattern of extracellular proteins with chitinase activity in the parent Serratia marcescens strain Bú 211 (ATCC 9986) grown in the presence of mitomycin C and its mutant strain with the constitutive synthesis of chitinases grown in the absence of the inducer showed that chitinase activity appeared in the culture liquids of both strains at the end of the exponential phase (4 h of growth) and reached a maximum in the stationary phase (18-20 h of growth). The analysis of the culture liquids (12 h of growth) by denaturing electrophoresis in PAAG followed by the protein renaturation step revealed the presence of four extracellular proteins with chitinase activity and molecular masses of 21, 38, 52, and 58 kDa. © 2002 MAIK "Nauka/Interperiodica"

Studying the content of phenolic compounds of Bupleurum scorzonerifolium Willd., growing in the Baikal region with HPLC

Phenolic compounds of plants have a wide spectrum of pharmacological action. A number of effective herbal medicines and biologically active additives have been developed on the basis of raw materials and natural polyphenols. The sources of phenolic compounds are plants of the genus Bupleurum L. In Russia Bupleurum scorzonerifolium used in folk medicine. Infusions and decoctions were taken for diseases of the liver, gall bladder, topically as an anti-inflammatory agent. The composition of phenolic compounds in the above-ground organs of the B. scorzonerifolium studied by HPLC on the device "GILSTON". Samples of raw materials (above-ground organs) were collected in the southern areas of the Irkutsk region. For the analysis of the herb B. scorzonerifolium 70% extract ethyl alcohol was used. Separation was performed on substances Kromasil C18 column (4,6 x 250 mm, 5 micron). Detection was carried out using a UV detector "GILSTON" UV/VIS model 151, at a wavelength of 254 nm. In comparison with standard samples we identified 8 flavonoids (prevailing - izoquercetin, hyperoside, izoramnetin-3-glucoside), 5 aromatic acids (predominantly acid - cinnamic, gallic, chicory). The study established the content of epicatechin, catechin, epigallocatechingallate, coumarin. For the first time the content of acids - coffee, chlorogenic, gallic, chicory, cinnamon; flavonoids - vitsenin, lyuteolin-7-glucoside, isoramnetin-3-glucoside, apigenin; epicatechin, catechin, epigallocatechingallate; coumarin -was established in B. scorzonerifolium

Accumulation of phenolic compounds in the aerial organs of Bupleurum scorzonerifolium Willd., growing in the Baikal region

A plant of the genus Bupleurum L. is being introduced into medical practice and being used in traditional medicine as an anti-inflammatory agent in diseases of the gastrointestinal tract, treatment of diseases of the liver and gall bladder. In folk medicine, infusionfrom the herb Bupleurum scorzonerifolium Willd. is used externally for inflammatory diseases of the eyes and skin diseases. B. scorzonerifolium is widespread and abundantly grows in the area of Ural Mountains, Altai, Tuva, in the Krasnoyarsk region, Baikal region, and Buryatia. Detection of phenolic compounds in B. scorzonerifolium was performed using qualitative analytical reactions. Studying the composition of flavonoids and phenol carbonic acids was carried out by paper chromatography. We established that the leaves of B. scorzonerifolium contain quercetin, kaempferol, rutin, hyperoside and isorhamnetin, stems - quercetin, kaempferol, rutin and isorhamnetin, flowers - quercetin, hyperoside and rutin. The leaves, flowers and stems found to contain caffeic, chlorogenic and ferulic acids. The quantitative content of tannins was determined by permanganometry method, flavonoids and phenol carbonic acids -by spectrophotometric method. The maximum quantity of phenolic compounds is detected in leaves and flowers. Thus, as a medicinal plant, the grass B. scorzonerifolium can be recommended for harvesting during the flowering period

Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

Alopecia areata (AA) is a prevalent autoimmune disease with 10 known susceptibility loci. Here we perform the first meta-analysis of research on AA by combining data from two genome-wide association studies (GWAS), and replication with supplemented ImmunoChip data for a total of 3,253 cases and 7,543 controls. The strongest region of association is the major histocompatibility complex, where we fine-map four independent effects, all implicating human leukocyte antigen-DR as a key aetiologic driver. Outside the major histocompatibility complex, we identify two novel loci that exceed the threshold of statistical significance, containing ACOXL/BCL2L11(BIM) (2q13); GARP (LRRC32) (11q13.5), as well as a third nominally significant region SH2B3(LNK)/ATXN2 (12q24.12). Candidate susceptibility gene expression analysis in these regions demonstrates expression in relevant immune cells and the hair follicle. We integrate our results with data from seven other autoimmune diseases and provide insight into the alignment of AA within these disorders. Our findings uncover new molecular pathways disrupted in AA, including autophagy/apoptosis, transforming growth factor beta/Tregs and JAK kinase signalling, and support the causal role of aberrant immune processes in AA