Whole-genome association studies of distribution of developmental abnormalities and other breeding-valuable qualitative traits in offspring of the Russian large-white boars

Identifying genome regions that are directly or indirectly associated with developmental defects and malformations in domesticated pigs can help identify genomic traits used as biomarkers of the structural and functional composition of the body, their metabolic status and genetic diseases as well. Such studies are directly related to the improvement of the economic efficiency, as they allow identification and exclusion of defect animals, who may carry target genes not appearing phenotypically, from the breeding process. In the current work, we have searched for these kind of target genes and genome regions with conducting the genome-wide association studies using PorcineSNP60K BeadChips (Illumina, San Diego, USA). A total of 48 boars of a large white breed of the nucleus farm “Znamenskoe” were analyzed for 21 traits of indicated shortcomings of the exterior and defects of development in 39,153 their offspring.  Calculations were made using a mixed type linear model in package GEMMA. In this study, we selected only 36,704 polymorphic SNPs from an initial 61,000-strong SNP set. After GWAS, we obtained 24 alleles in 11 corresponding genes  (P < 0.1) in the genome of pigs, which are significantly correlated with traits of developmental abnormalities such as anal atresia (ARMC7,FANCC,RND3,ENSSSCG00000017216), limb problems (PAWR,NTM,OPCML,ENSSSCG00000040250, ENSSSCG00000017018) and tremor of piglets (RIC3,ENSSSCG00000032665). Also, co-expression of the NTM,OPCMLand  RND3genes was revealed. This study confirms the relevance of using the single SNP detection according to the single trait approach in associative studies, even for small sample numbers

Remote monitoring of adolescents with type 1 diabetes mellitus using a mobile application

Background: The prevalence of type 1 diabetes mellitus (T1DM) in childhood is increasing every year. Adolescence is the most challenging age for achieving optimal metabolic control of T1DM. Telemedicine has already been shown to be ­effective in children with the condition, but there are not enough studies in adolescents. The use of mobile apps may be associated with better glycemic control in patients with type 1 diabetes.Aims: To assess the effectiveness and safety of a model of medical care for adolescents with type 1 diabetes using remote counseling and a mobile application.Materials and methods: Were included adolescents aged ≥14 and 18 years with a T1DM duration> 3 months, a glycated hemoglobin level (HbA1c)> 7%. The duration of the study was 26 weeks. There were 3 face-to-face and at least 4 remote visits using a mobile application. All patients underwent standard examination and anthropometry, study of HbA1c, registration and analysis of indicators, assessment and correction of the treatment. The quality of life of adolescents was assessed at baseline and at the end of the study. Adolescents and physicians were interviewed about program evaluation.Results: 56 patients were included, 7 adolescents withdrew. HbA1c significantly decreased by the 12th week of the study (–0.3%; p = 0.005), by the end of the study the change in HbA1c was –0.5% (p <0.001). There was an increase in the percentage of glucose measurements in the target range (+5.3 pp; p = 0.016) and a decrease in blood glucose variability (-3.1 pp; p =  0.015). There was a significant improvement in both the total assessment of the quality of life by patients (+2.9 points; p = 0.008) and individual components of its indicators: attitude to diabetes (+3.0 points; p = 0.049), attitude to treatment (+4.6 points; p = 0.010) and communication with others (+4.5 points; p = 0.015). The majority of doctors and patients assessed their participation in the study positively. The incidence of adverse events did not change significantly during the study from baseline.Conclusion: Remote counseling using a mobile app is a safe and effective approach for adolescents with T1DM in terms of glycemic control and quality of life, and provides convenience and speed of interaction

РАЗРАБОТКА ИНФОРМАЦИОННОЙ МОДЕЛИ КЛИНИЧЕСКИХ СЦЕНАРИЕВ НА БАЗЕ ОБУЧАЮЩЕГО СИМУЛЯЦИОННОГО ЦЕНТРА

There is the big issue in medical education which is students don’t have enough skills. Often even with theoretical knowledge graduate medical students need to improve their skills by working with patients. Obviously it can be a risk for patients and takes quite long time. This situation could be changed with applying simulation technologies in medical education. Medical education with virtual simulators allows reducing the time of skills development and improving the quality of training. The aims of this work are developing informational model and creating clinical scenarios of emergency states in the Medical Simulation Center.Objectives:– to analyze the process of scenario conducting;– to create clinical scenarios of emergency states (anaphylactic shock, hypovolemic shock, obstructive shock) with specialist’s help.The scenarios consist of sections such as main aim, skills, required mannequins, preparation of the mannequins, preparation of medical equipment and instruments for the scenario, preparation of special materials, scenario description, guide for operator, information for trainees.By analyzing the process of scenario conducting the key participants were defined who are operator, assistant, trainer, trainees. Also the main scenario stages were defined. Based on the stages diagram of variants of scenario conducting was designed.As an example there are fragments of scenario “Obstructive shock – a pulmonary embolism” in this article. Learn skills are cognitive, technical, social ones.Results. This paper presents an analysis of the clinical scenario conducting. Information model was developed which based on object-oriented decomposition. The model is the diagram of variants of scenario conducting. Scenario’s structure for emergency states was formulated. The scenarios are anaphylactic shock, hypovolemic shock, obstructive shock (pulmonary embolism, tension pneumothorax), pulmonary edema, hypertensive crisis, respiratory distress syndrome of the newborn, meconium aspiration syndrome.Важной проблемой подготовки врачей является низкий уровень владения практическими навыками у студентов. Нередко, даже при отличном знании теории, выпускники высших медицинских заведений вынуждены обучаться, работая непосредственно с пациентами. Естественно, такой метод обучения сопряжен с риском для пациентов, а также занимает довольно много времени. Радикальное изменение ситуации возможно с внедрением симуляционных технологий в медицинское образование. Обучение при помощи виртуальных тренажеров позволяет значительно сократить время освоения практических навыков, а также повысить качество подготовки специалистов. Таким образом, целью данной работы являетсяразработка информационной модели и создание клинических сценариев неотложных состояний на базе многопрофильного обучающего симуляционного центра.Задачи:– проанализировать процесс проведения клинического сценария;– совместно с экспертами – реаниматологами и неонатологами – сформировать структуру сценариев по неотложным состояниям (анафилактический шок, гиповолемический шок, обструктивный шок и т.д.).Разрабатываемые сценарии включают разделы: основная проблема, изучаемые навыки, необходимые манекены, подготовка манекена для проведения симуляции, подготовка кабинета для проведения симуляции, расходные материалы, описание сценария, информация для обучаемого, последовательность действий для оператора.При анализе процесса проведения сценария были определены основные участники (оператор, инструктор, лаборант, курсанты). При спецификации были выделены основные этапы проведения сценария, на их основе спроектирована диаграмма вариантов проведения сценария.В качестве примера в статье приводится часть сценария «Обструктивный шок – тромбоэмболия легочной артерии». Изучаемые навыки в процессе обучения: когнитивные, технические, социальные.Представлен анализ процесса проведения клинического сценария, разработана информационная модель на основе метода объектно-ориентированной декомпозиции, представляющая собой диаграмму вариантов использования, сформирована структура сценариев по неотложным состояниям: анафилактический шок, гиповолемический шок, обструктивный шок (тромбоэмболия легочной артерии, напряженный пневмоторакс), отек легких, гипертонический криз, респираторный дистресс-синдром новорожденного, синдром аспирации меконием

Клиническая эффективность флутиказона/сальметерола по сравнению с беклометазоном и флутиказоном при лечении бронхиальной астмы у детей

The aim was to compare effects of salmeterol/fluticasone propionate 50/100 μg bd (FSL) via Discus™ device with fluticasone propionate (FP) 100 pg bd via Dischaler or beclomethasone dipropionate (BDP 200 pg bid) via Dischaler in 12-week multtcentre randomised controlled trial involved 250 symptomatic children aged 4 to 10 yrs with moderate to severe asthma who had previosly received beclomethasone dipropionate less than 400 pg daily or cromones. The treatment effectiveness was assessed using a dairy card including measurement of asthma symptoms, peak expiratory flow (PEF), need in short-acting β2-agonists, and a patient's consideration of treatment. The patients receiving FSL had significantly more symptom-free days (64.8 ± 21.8) versus the patients receiving FP (55 ± 23.9, p < 0,05) or BDP (52 ± 24.8, p < 0.05). The FSL patients had fewer days with rescue medication (10.2 ± 12.6) in comparison with the FP (24.9 ± 21.7, p < 0.001) and the BD patients (23.8 ±20.1 p < 0.001). During first 4 weeks of the treatment the morning PEF rates were slightly higher in the FSL patients (114 ±7 % pred.) versus the FP ones (107 ± 8 %) and BDP (106 ± 8 %). Significantly more FSL children and their parents were satisfied with the treatment (97 %) compared with 82 % of the FP and 68 % of the BDP patients (p < 0.001). Children did not have problems using the dry powder inhalers Discus and Dischaler. Adverse events were found in 4 FSL, 7 FP and 12 BDP patients (cold, cough after inhalation, sore throat). These effects were not severe. Thus, the combined treatment with low-dose FP and SL was more effective than two-fold higher dose BDP and the single therapy with low-dose FP in pediatric asthma patients.Цель исследования — сравнить эффективность комбинированной терапии низкими дозами флутиказона в сочетании с пролонгированным р2-агонистом сальметеролом (Серетид 100/50 дважды в день — 1-я группа) с монотерапией флутиказона пропионатом в той же дозе (Фликсотид Ротадиск 100 мкг дважды в день — 2-я группа) или беклометазона дипропионатом в 2 раза большей дозе (Бекодиск 200 мкг дважды в день — 3-я группа) у детей 4-10 лет со среднетяжелой и тяжелой бронхиальной астмой (БА).Метод — многоцентровое открытое рандомизированное исследование в 3 параллельных группах в течение 12 нед. Все пациенты до включения в исследование имели симптомы БА и получали ингаляционные кортикостероиды (ИКС) или кромоны.Результаты: за 12 нед. лечения у детей 1-й группы было достоверно больше дней без симптомов БА (64,8 ± 21,8), чем во 2-й (52 ± 24,8, р < 0,05) и 3-й (55 ± 23,9, р < 0,05) группах; в 1-й группе было меньше дней, когда требовался прием короткодействующих β2-агонистов для купирования симптомов БА (1-я группа — 10,2 ± 12,6 дней, по сравнению со 2-й — 24,9 ± 21,7, и 3-й — 23,8 ± 20,1, р < 0,001). К концу лечения в 1-й группе, получавшей комбинированную терапию, показатели утренней ПСВ были выше (114 ± 7% от должного, по сравнению со 2-й и 3-й группами — 107 ±8 % и 106 ±8 % соответственно). Значительно больше родителей пациентов с БА были удовлетворены лечением Серетидом (97 %), чем в 2 других группах (во 2-й — 82 %, в 3-й — 68 %). За время лечения нежелательных явлений, возможно, связанных с приемом лекарств, в группе детей, получавших Серетид, не отмечено. Несерьезные нежелательные явления отмечены у 4 пациентов из 1-й группы, у 7 — из 2-й, у 12 — из 3-й группы (ОРЗ, кашель, першение в горле после ингаляции, усиление атопического дерматита). Отмены препаратов не потребовалось. Использование порошковых ингаляторов не вызывало трудностей у детей 4-10 лет.Заключение: у детей с со среднетяжелой и тяжелой БА лечение комбинированным препаратом флутиказон пропионат + сальметерол в низкой дозе более эффективно, чем лечение одним флутиказоном в той же дозе или беклометазоном в 2 раза большей дозе

Volatile and Organic Compositions of Sedimentary Rocks in Yellowknife Bay, Gale crater, Mars

H₂O, CO₂, SO₂, O₂, H₂, H₂S, HCl, chlorinated hydrocarbons, NO and other trace gases were evolved during pyrolysis of two mudstone samples acquired by the Curiosity rover at Yellowknife Bay within Gale crater, Mars. H₂O/OH-bearing phases included 2:1 phyllosilicate(s), bassanite, akaganeite, and amorphous materials. Thermal decomposition of carbonates and combustion of organic materials are candidate sources for the CO₂. Concurrent evolution of O₂ and chlorinated hydrocarbons suggest the presence of oxychlorine phase(s). Sulfides are likely sources for S-bearing species. Higher abundances of chlorinated hydrocarbons in the mudstone compared with Rocknest windblown materials previously analyzed by Curiosity suggest that indigenous martian or meteoritic organic C sources may be preserved in the mudstone; however, the C source for the chlorinated hydrocarbons is not definitively of martian origin

A Habitable Fluvio-Lacustrine Environment at Yellowknife Bay, Gale Crater, Mars

The Curiosity rover discovered fine-grained sedimentary rocks, inferred to represent an ancient lake, preserve evidence of an environment that would have been suited to support a Martian biosphere founded on chemolithoautotrophy. This aqueous environment was characterized by neutral pH, low salinity, and variable redox states of both iron and sulfur species. C, H, O, S, N, and P were measured directly as key biogenic elements, and by inference N and P are assumed to have been available. The environment likely had a minimum duration of hundreds to tens of thousands of years. These results highlight the biological viability of fluvial-lacustrine environments in the post-Noachian history of Mars

Mineralogy of a Mudstone at Yellowknife Bay, Gale Crater, Mars

Sedimentary rocks at Yellowknife Bay (Gale Crater) on Mars include mudstone sampled by the Curiosity rover. The samples, John Klein and Cumberland, contain detrital basaltic minerals, Ca-sulfates, Fe oxide/hydroxides, Fe-sulfides, amorphous material, and trioctahedral smectites. The John Klein smectite has basal spacing of ~10 Å indicating little interlayer hydration. The Cumberland smectite has basal spacing at ~13.2 Å as well as ~10 Å. The ~13.2 Å spacing suggests a partially chloritized interlayer or interlayer Mg or Ca facilitating H_2O retention. Basaltic minerals in the mudstone are similar to those in nearby eolian deposits. However, the mudstone has far less Fe-forsterite, possibly lost with formation of smectite plus magnetite. Late Noachian/Early Hesperian or younger age indicates that clay mineral formation on Mars extended beyond Noachian time

X-ray Diffraction Results from Mars Science Laboratory: Mineralogy of Rocknest at Gale Crater

The Mars Science Laboratory rover Curiosity scooped samples of soil from the Rocknest aeolian bedform in Gale crater. Analysis of the soil with the Chemistry and Mineralogy (CheMin) x-ray diffraction (XRD) instrument revealed plagioclase (~An57), forsteritic olivine (~Fo62), augite, and pigeonite, with minor K-feldspar, magnetite, quartz, anhydrite, hematite, and ilmenite. The minor phases are present at, or near, detection limits. The soil also contains 27 ± 14 weight percent x-ray amorphous material, likely containing multiple Fe^(3+)- and volatile-bearing phases, including possibly a substance resembling hisingerite. The crystalline component is similar to the normative mineralogy of certain basaltic rocks from Gusev crater on Mars and of martian basaltic meteorites. The amorphous component is similar to that found on Earth in places such as soils on the Mauna Kea volcano, Hawaii

The Petrochemistry of Jake_M: A Martian Mugearite

“Jake_M,” the first rock analyzed by the Alpha Particle X-ray Spectrometer instrument on the Curiosity rover, differs substantially in chemical composition from other known martian igneous rocks: It is alkaline (>15% normative nepheline) and relatively fractionated. Jake_M is compositionally similar to terrestrial mugearites, a rock type typically found at ocean islands and continental rifts. By analogy with these comparable terrestrial rocks, Jake_M could have been produced by extensive fractional crystallization of a primary alkaline or transitional magma at elevated pressure, with or without elevated water contents. The discovery of Jake_M suggests that alkaline magmas may be more abundant on Mars than on Earth and that Curiosity could encounter even more fractionated alkaline rocks (for example, phonolites and trachytes)