bluuebunny/crossref_metadata_2025 huggingface dataset:
Clinical Gitelman Syndrome with Periodic Paralysis and Anemia
Authors: Rahman Muhammad Saiful , Anniwati Leonita
Published: December 2020

Gitelman syndrome is a rare, autosomal recessive, renal tubular salt-wasting disorder characterized by hypokalemia andmetabolic alkalosis combined with hypomagnesemia and hypocalciuria. A 13-year-old male patient came with acute flaccidparalysis, pain, and weakness in limb muscles. Laboratory results showed hypokalemia, hypocalcemia, hypomagnesemia,and metabolic alkalosis accompanied by anemia and elevated serum transaminases. An electrocardiogram test showed aprolonged QT wave. Physical examination showed blood pressure 118/68 mmHg; heart rate 95x/minute; respiration rate 262 x/minute; temperature 37.6â°C, weight 80 kg, height 160 cm, and BMI 31.25 kg/M . Neurological examination weakness inthe lower limb, negative pathological reflex. Hematology examination showed Hb 9.8 g/dL, MCV 82.3 fL, MCH 26.8 pg,MCHC 32.5 g/dl, WBC 16.87x10³/Î¼L, platelets 320 x10 /Î¼L, serum iron 47 mg/dL, TIBC 229 mg/dL, ferritin 38.45 ng/mL.Peripheral blood smear showed hypochromic microcytic anemia. Blood gas pH 7.47; pCO2 39 mmHg; pO2 44 mmHg;HCO3- 28.4 mmol/l; Beecf 4.7 mmol/l; SO2 83%; AaDO2 114; thus supporting metabolic alkalosis. Cortisol level was 11.39ug/dL, ANA test result was positive at 17.2 IU/mL, the complement level was normal, dsDNA antigen was negative. Due tohypokalemia, hypocalcemia, hypomagnesemia, and metabolic alkalosis, this patient was diagnosed with Gitelmansyndrome with anemia. The diagnosis should be confirmed by molecular DNA diagnostic studies to identify mutations ofthe gene encoding the thiazide-sensitive Na-Cl-cotransporter.
Correlation between Serum Dehydroepiandrosterone Sulfate and LDL Cholesterol in Patients with Polycystic Ovarian Syndrome
Authors: Gunawan Hantoro , Ipandi Irvan , Nugraha Jusak , Sa'adi Ashon
Published: December 2020

Polycystic Ovary Syndrome (PCOS) is the most prevalent endocrine disorder in female of childbearing age. PCOS patients also have metabolic and cardiovascular disorder risks. One of the factors that can affect those disorders is androgen hormone level. Dehydroepiandrosterone, is produced by the adrenal gland, and its metabolite dehydroepiandrosterone sulphate (DHEAS) has a different effect than testosterone. DHEA and DHEAS might have a protective effect to dyslipidemia and cardiovascular disorder. LDL cholesterol is an important parameter for dyslipidemia therapy guide according to The National Cholesterol Education Program Adult Treatment Panel. The aim of this study was to analyze the correlation between DHEAS and LDL cholesterol.This research was a cross sectional observational study. DHEAS and LDL cholesterol were examined in 25 research subjects by chemiluminescent immunoassay (Immulite®, Siemens) and colorimetric enzymatic (Dimension EXL®, Siemens). These subjects were divided into 3 groups according to 2003 Rotterdam's criteria. Spearman and Pearson's correlation statistical analysis were done, with a significance of p-value less than 0.05This study showed a moderate negative correlation between DHEAS and LDL cholesterol (r= -0.441, p = 0.027). Group D PCOS (non-hyperandrogenic) had a strong negative correlation between DHEAS and LDL cholesterol (r=-0.717, p= 0.001). DHEA, in some literatures was shown to activate Peroxisome Proliferator Activated Response Î³ (PPAR Î³) receptors and thereby increasing LDL-cholesterol receptors in adipose tissue and LDL-cholesterol uptake from serum. The rise in DHEAS might indicate a better prognosis for PCOS patients in terms of cardiovascular complications, especially in group D PCOS.
The Thyroid Stimulating Hormone and Free Thyroxine Levels in Correlation with Serum Bilirubin in Neonatal Jaundice
Authors: Dwijayanti Elvira , Pramudianti MI. Diah , Ariningrum Dian
Published: December 2020

Congenital hypothyroidism is known to cause prolonged hyperbilirubinemia in neonates. It also correlates with delayedmaturation of the activity of the uridine diphosphate glucoronosyltransferase (UDPG-T) enzyme. Thus, this study wasperformed to analyze the correlation of TSH and FT4 levels with serum bilirubin in neonatal jaundice. This observationalanalytical study with a cross-sectional approach was conducted on 64 neonatal patients with jaundice in Dr. MoewardiGeneral Hospital, Surakarta during September-November 2019. The data comparison and correlation were analyzed withMann-Whitney and the Spearman test. A p-value of < 0.05 was considered significant with 95% Confidence Interval (CI). Thestudy variables comprised of total bilirubin of 12.7 (6.28-23.5) mg/dL, direct bilirubin of 0.8 (0.30-6.61) mg/dL, indirectbilirubin of 11.87 (3.16-22.94) mg/dL, TSH of 4.4 (0.40-23.06) uIU/L, and FT4 of 22.85±7.4 pmol/L. The TSH and FT4 weremoderately correlated with total bilirubin r=-0.444; p=0.001 and r= -0.467; p=0.001), with indirect bilirubin (r= -0.3362;p=0.03 and r=-0.411; p=0.001) and with direct bilirubin (r= -0.257; p=0.040 and r=0.232; p=0.065), respectively. A moderatecorrelation of TSH and FT4 with total and indirect bilirubin, as well as a weak correlation between TSH and direct bilirubinwere found, while no correlation was found between FT4 and with direct bilirubin. Thyroid function screening isrecommended in neonates with jaundice, due to the importance of thyroid hormones in the function and formation oforgans
Immature Platelet Fraction as A Potential Marker To Differentiate Types of Acute Coronary Syndrome
Authors: Indriastuti Endah , Hernaningsih Yetti , Indrasari Yulia Nadar , Andrianto Andrianto
Published: December 2020

Acute Coronary Syndrome (ACS) includes ST-Elevation Myocardial Infarction (STEMI), non-ST Elevation MyocardialInfarction (NSTEMI), and Unstable Angina (UA). Platelet plays an essential role in ACS pathogenesis. Immature PlateletFraction (IPF) and platelet indices can predict platelet activations. Platelet indices consist of platelet count, Mean PlateletVolume (MPV), Platelet Distribution Width (PDW), plateletcrit (Pct). This study aimed to analyze the differences of IPF andplatelet indices among ACS patients. This study was an observational analytical cross-sectional study conducted inDr. Soetomo Hospital during May-September 2019. The subjects consisted of 30-STEMI, 25-NSTEMI, and 24-UA patients.The EDTA-samples were measured for platelet indices and IPF using Sysmex XN-1000. The differences between IPF andplatelet indices among STEMI, NSTEMI, and UA patients were analyzed using Kruskal-Wallis and Mann-Whitney test. The IPFvalues were significantly higher in STEMI patients than NSTEMI and UA patients. The IPF values of NSTEMI patients werehigher than UA patients. The MPV, PDW, and P-LCR were significantly higher in STEMI and NSTEMI compared to UA. TheMPV, PDW, and P-LCR values of NSTEMI patients were significantly higher than UA patients. The significant differencesbetween STEMI and NSTEMI toward UA might be caused by the more severe thrombotic conditions in myocardial infarctionpatients than UA. The IPF values were significantly different among each type of ACS patients gave an opportunity using thisparameter to differentiate the ACS types. The MPV, PDW, and P-LCR were significantly higher in myocardial infarctionpatients than UA patients, which also allowed them to use those parameters to differentiate both conditions.
Cancer Risk Assessment and Screening; A Challenge for Clinical Pathology Service?
Authors: Kresno Siti Boedina
Published: December 2020

There is evidence demonstrating that cancer etiology is multi-factorial and modification of risk factors has achievedcancer prevention. There is therefore a need to advance the understanding of cancer etiology through interaction effectsbetween risk factors when estimating the contribution of an individual to the cancer burden in a population. It has beenknown that cancer may arise from genetic susceptibility to the disease as an intrinsic factor; however, non-intrinsic factorsdrive most cancer risk as well and highlight the need for cancer prevention. Are our clinical pathologists aware of thesefacts?. Are they ready to understand and to provide an excellent test with good expertise?. Hereditary cancer testing istypically performed using gene panels, which may be either cancer-specific or pan-cancer to assess risk for a defined orbroader range of cancers, respectively. Given the clinical implications of hereditary cancer testing, diagnostic laboratoriesmust develop high-quality panel tests, which serve a broad, genetically diverse patient population. The result will determinea patient's eligibility for targeted therapy, for instance, or lead a patient to prophylactic surgery, chemoprevention, andsurveillance. This review will introduce the definitions of intrinsic and non-intrinsic risk factors, which have been employed inrecent work and how evidence for their effects on the cancer burden in human subjects has been obtained. Genetic testingof cancer susceptibility genes by use of liquid biopsies and New Generation Sequencing (NGS) is now widely applied inclinical practice to predict the risk of developing cancer, help diagnosis, and treatment monitoring.
Концепция долговечности бетона для прогноза срока службы конструкций в условиях морозного воздействия
Authors: Малюк В.В.
Published: December 2020

Проектирование конструкций и сооружений в соответствии с жизненным циклом предопределяет необходимость разработки прогнозных методов долговечности бетона применительно к различным условиям эксплуатации. Эта проблема актуальна для морских портовых сооружений при эксплуатации в северных и дальневосточных морях России. Несмотря на большой объем теоретических и экспериментальных работ, посвященных долговечности бетона при морозном воздействии, методы прогнозирования коррозии бетона в этих условиях отсутствуют. На основе комплексного анализа работ по коррозии бетона при морозном воздействии автор предлагает концепцию долговечности бетона для зоны переменного уровня портовых сооружений, основанную на двухстадийности процесса коррозии. Полагая, что непосредственно процесс разрушения бетона начинается с критической степени водонасыщения бетона, предлагается долговечность бетона оценивать по продолжительности его водонасыщения до критической степени в реальных условиях эксплуатации. Исходя из этого степень водонасыщения предлагается принять в качестве определяющего критического свойства бетона для прогнозирования долговечности бетона в зоне переменного уровня при морозном воздействии. Автор считает, что исследование процессов водонасыщения бетона и влияния степени этого насыщения на долговечность в реальных условиях эксплуатации – актуальные направления, позволяющие в дальнейшем перейти к разработке практических моделей для прогноза срока службы конструкций и количественной оценке агрессивности среды эксплуатации. Прогнозирование долговечности бетона по степени водонасыщения позволяет планировать работы по текущему ремонту в процессе эксплуатации сооружения.
Ключевые слова: водонасыщение бетона, долговечность, морозостойкость, портовые сооружения, прогнозирование срока службы
Методы определения характеристик звукопоглощения строительных материалов и звукоизоляции конструкций (обзор)
Authors:   Р.С. Федюк, А.В. Баранов, Р.А. Тимохин, А.П. Свинцов
Published: December 2020

Исследование акустических характеристик строительных материалов и конструкций необходимо для комфортной жизни людей в городских условиях. Несмотря на то что в нормативных документах развитых государств есть ряд методов их определения, единого понимания самих характеристик и путей их адекватного определения до сих пор нет. В настоящей работе мы попытались систематизировать и дать критический обзор нормативных документов, содержащих методы определения звукопоглощающих свойств материалов и звукоизоляционных характеристик конструкций. Впервые выявлены присущие разным методам закономерности определения характеристик звукопоглощения и звукоизоляции. Определены наиболее характерные показатели звукопоглощения. Произведено ранжирование по коэффициенту уменьшения шума NRC наиболее часто применяемых строительных материалов. Названы области применения рассматриваемых методик, проанализированы их преимущества и ограничения.
Ключевые слова: коэффициент уменьшения шума, звукопоглотитель, импедансная труба, реверберационная камера

The study of the acoustic characteristics of building materials and structures is necessary for provision of comfortable life of people in urban conditions. Despite the fact that in the normative documents of
developed countries there are a number of methods for their determination, there is still no common understanding of the characteristics themselves and the ways of their adequate determination. In this work we tried
to systematize and give a critical review of regulatory documents containing the methods for determining the
sound-absorbing properties of materials and the sound-insulating characteristics of structures. For the first time
the regularities in determination the characteristics of sound absorption and sound insulation inherent in different methods have been revealed. The most characteristic indicators of sound absorption have been determined. The ranking of the most commonly used building materials was made according to the noise reduction
factor (NRC). The areas of application of the considered methods are presented, their advantages and limitations are analyzed.
Keywords: noise reduction factor, sound absorber, impedance tube, reverberation chamber
Движение погруженного тела вблизи свободной поверхности жидкости
Authors:   В.Л. Земляк, В.М. Козин, А.С. Васильев
Published: December 2020

Для выполнения различных задач подводные суда часто эксплуатируются в приповерхностной водной среде. В таких условиях маневренность и управляемость судном становятся критически важным фактором его безопасной эксплуатации. Силы, действующие со стороны жидкости на погруженное тело, могут оказывать существенное влияние на характер его движения. В работе авторами с помощью программного комплекса ANSYS 19 R2 Academic Research выполнены расчеты движения погруженного тела с различной скоростью вблизи свободной поверхности жидкости. Получены профили взволнованной поверхности водной среды. Проанализирован характер распределения давления вдоль верхней поверхности погруженного тела в зависимости от скорости движения. Определена зависимость коэффициента волнового сопротивления для модели тела с заданными параметрами. Установлены скорости движения, при которых наблюдались максимумы и минимум значений коэффициента волнового сопротивления. Работоспособность алгоритма подтверждена путем сопоставления с известными экспериментальными данными и результатами модельных экспериментов, выполненных в опытовом бассейне.

Ключевые слова: погруженное тело, свободная поверхность, волновое сопротивление
Влияние значения процента армирования композитной арматуры на напряженно-деформированное состояние двухслойных изгибаемых бетонных элементов
Authors:   Ю.Ф. Рогатнев, Ж. Минани, О.О. Соколов, А.М. Хорохордин
Published: December 2020

Проведен анализ моделирования напряженно-деформированного состояния двухслойных прямоугольных балок с композитной арматурой с целью определения их деформативности. Исследована эффективность применения композитной арматуры для армирования двухслойных изгибаемых бетонных элементов с высокопрочным бетоном в сжатой зоне. Представлены численные результаты прогибов, полученные авторами с помощью программных комплексов «ЛИРА-САПР 2017 R3» и “ANSYS 2019 R3”. Сделан сравнительный анализ двух вариантов значений для двухслойных балок:
с композитной и стальной арматурой. Для балок с композитной арматурой получены прогибы, значительно отличающиеся от величин, приведенных в нормативной документации, особенно при расчетах с помощью «ЛИРА-САПР».

Ключевые слова: композитная арматура, двухслойный изгибаемый элемент, фактическое армирование, оптимизация процента армирования
Определение прочности нормального сцепления кирпичной кладки методом раскалывания
Authors:   А.В. Покатилов, К.В. Ардеев
Published: December 2020

Представлена разработанная и опробованная методика определения прочности сцепления в каменной кладке по неперевязанным швам посредством испытания отобранных из конструкции кернов методом раскалывания. Идея работы состоит в применении известного метода определения прочности на растяжение посредством раскалывания цилиндрического образца для оценки прочности сцепления в кирпичной кладке по неперевязанному шву. Выполнено сопоставление результатов испытаний кернов кирпичной кладки здания с данными, полученными с помощью прибора ОНИКС-1.СК. Получено совпадение по прочности сцепления с обеспеченностью 95%.
Ключевые слова: здание, кирпичная кладка, нормальное сопротивление, испытание кернов, сцепление, неперевязанный шов, испытательная машина
Gestión depredadora de artículos científicos
Authors:   Universidad EAFIT, Mercado Percia Heiner
Published: December 2020

Tal vez sea más usual de lo que imagino, pero por lo menos a mí me resultó curioso el hecho de recibir en una misma semana dos mensajes de correo electrónico enviados por personas de países distintos, Irán y Rusia, en el que proponen la publicación de artículos en la revista que dirijo.
Experimental approaches targeting the biochemical and antioxidant potential of Synsepalum dulcificum dried fruits
Authors: POPA GABRIELA , TOMA RADU , BOÉ JEAN-FRANÇOIS
Published: December 2020

This study aimed to investigate the biochemical content and antioxidant activity of methanol extracts prepared from Synsepalum dulcificum dried fruits. The results obtained by phytochemical screening of the extracts revealed the presence of some pharmacologically active chemical compounds such as: alkaloids, flavonoids, phenolic compounds and tannins. Quantitative analysis showed that the seeds had phenols in greater amounts (157.88 ± 2.09 mg GAE / g dry matter) than dried fruit pulp (54.09 ± 2.24 mg GAE / g dry matter). Contrariwise, flavonoid content was found to be low in seed (0.013 ± 0.02 mg EQ / g) and high in fruit pulp (0.13 ± 0.05 mg EQ / g). Correlated with the high amount of total phenol, in the seed extracts was found a good antioxidant activity – measured by both DPPH and ferric reducing antioxidant power (FRAP) assays. This antioxidant capacity may be also correlated with the amount of alkaloids, flavonoids, tannins and phenolic compounds, and as well as with their synergistic interactions. Synsepalum dulcificum fruits can be used as a healthy source of additives for the food industry or as natural antioxidants for the pharmaceutical industry.
Lithostratigraphy of the Palaeoproterozoic Hekpoort Formation (Pretoria Group, Transvaal Supergroup), South Africa
Authors: Lenhardt N. , Altermann W. , Humbert F. , de Kock M.
Published: December 2020

The Palaeoproterozoic Hekpoort Formation of the Pretoria Group is a lava-dominated unit that has a basin-wide extent throughout the Transvaal sub-basin of South Africa. Additional correlative units may be present in the Kanye sub-basin of Botswana. The key characteristic of the formation is its general geochemical uniformity. Volcaniclastic and other sedimentary rocks are relatively rare throughout the succession but may be dominant in some locations. Hekpoort Formation outcrops are sporadic throughout the basin and mostly occur in the form of gentle hills and valleys, mainly encircling Archaean domes and the Palaeoproterozoic Bushveld Complex (BC). The unit is exposed in the western Pretoria Group basin, sitting unconformably either on the Timeball Hill Formation or Boshoek Formation, which is lenticular there, and on top of the Boshoek Formation in the east of the basin. The unit is unconformably overlain by the Dwaalheuwel Formation. The type-locality for the Hekpoort Formation is the Hekpoort farm (504 IQ Hekpoort), ca. 60 km to the west-southwest of Pretoria. However, no stratotype has ever been proposed. A lectostratotype, i.e., the Mooikloof area in Pretoria East, that can be enhanced by two reference stratotypes are proposed herein. The Hekpoort Formation was deposited in a cratonic subaerial setting, forming a large igneous province (LIP) in which short-termed localised ponds and small braided river systems existed. It therefore forms one of the major Palaeoproterozoic magmatic events on the Kaapvaal Craton.
Heraclitus and His Fire Element
Authors: Ignatenko Evgeny A.
Published: December 2020

The article offers a reconstruction of the part of Heraclitus' teaching about the origin of the world, which contains information about the structure of this very origin. The philosopher's idea of this structure is clarified, using the results of the comparative analysis of the original world in Thales and Anaximenes. Thus, the original for Heraclitus is the fiery element, eternal, indestructible and consisting of the smallest parts. The structure of "fire" is composed of a plurality of certain raspings. As a result of the ongoing process of "melting", from the "particles" of matter, there appear other primary elements, then planets and stars, the cosmos itself. This is how Heraclitus conceived both the eternal cycle of primary elements, and the processes of cosmogony.
Scientific Discoveries and the Cognitive Progress of Philosophy
Authors: Rozov Nikolai S.
Published: December 2020

For a long time discoveries were recognized only in natural sciences. We can talk about “discoveries” in the social sciences only in some other sense. At the same time the accumulation of general theoretical knowledge in economics and sociology is not in doubt. Eleven criteria of “positive knowledge” (respectively, “discoveries” when such knowledge is first acquired) are formulated. Three groups of scientific and philosophical disciplines with similar indicators according to these criteria are distinguished. In philosophy (with the exception of logic and analytical philosophy) it is difficultto talk about discoveries and knowledge due to the lack of agreement regarding any non-trivial judgments with a philosophical level of generality and abstractness. At the same time the development of philosophy is more than the accumulation of ideas as optional opinions. To solve this difficulty the metaphor of “a lock” (obstacles to cognition), “a key” (intellectual means selected and created to obtain reliable knowledge) and “a view” (holistic meaningful image on “opening different doors”) was used. Even if philosophy does not produce full-fledged discoveries and generally accepted knowledge it progressively develops its ideas as heuristic “keys” for scientific research and as “views” that generalize heterogeneous, accumulated scientific knowledge connecting them with changing self-consciousness and values in human generations.
Phenomenology: Retrospective and Prospective Approaches
Authors: Berdaus Svetlana V. , Sanzhenakov Alexander A.
Published: December 2020

The article outlines ways to determine the theoretical preconditions for the formation of phenomenological philosophy and provides some examples of the practical application of the phenomenological method in current social and human studies. The specificity of the approach implemented in the article is that the authors deliberately refuse to consider the primary sources of phenomenology (Kant, Brentano, etc.) and turn to the primary sources of this doctrine in ancient philosophy. The authors assume that addressing ancient philosophy allows to reveal all capabilities of the phenomenological method. The application of the phenomenological method in psychology faces a number of difficulties. Firstly, there is a problem of distinguishing between philosophy and psychology. Secondly, there is a difficulty in combining scientific (dogmatic) and phenomenological (anti-dogmatic, critical) knowledge. The task of a phenomenological psychologist is to develop an understanding of the diversity of human experience, guided by unpackaged knowledge. Therefore, an appeal to the philosophical heritage of the past, and above all to ancient and medieval texts, is a justified decision, because the first prescientific attempts of thinkers to find ways to describe experience are found there.
Dynamics of Socio-Cultural Transformation of the Village: Models of Evolution
Authors: Shmakov Vladimir S.
Published: December 2020

The analysis of socio-cultural dynamics of rural local communities development in the conditions of structural transformations in production-economic and institutional activity shows that a new paradigm of rural development is being formed, based on the doctrine of multi-layered economy. Rural communities, representing a socio-territorial location, generate models of maintaining their identity, reflecting the social structure, conditions, lifestyle and standard of living. The socio-cultural behavior of the villagers determines the social and mental mechanisms of development, including the reproduction of the population as a subject of socio-cultural activities. The socio-cultural portrait of rural communities reflects the main problems of their development: differentiation of the level and quality of life of rural local communities, sharp stratification into the rich and very poor.
Family within the Models of Ethnic Policy in the Russian Federation: Realities and Opportunities
Authors: Abramova Mariya A. , Goncharova Galina S. , Kostyuk Vsevolod G.
Published: December 2020

The paper offers an analysis of the legal status of the family in theoretical models (conceptions, strategies) of ethnic, cultural, and family policy at the federal and regional levels. The results of the analysis are compared with the socio-philosophical and sociological justification of the role of the family in the formation of attitudes of young people towards interethnic interaction. It is concluded that despite the fact that the social institution of the family is not theoretically designated as a subject in the models of national policy, nevertheless it plays an important role in it. The paper justifies the proposal to fix the family as a subject of the state national policy in the models.
The Concept of Position and Positional Thinking
Authors: Nechiporenko Alexander V.
Published: December 2020

The paper elaborates on and develops the concept of “position”. Drawing on the examples from the history of science and philosophy from G. Galileo to the works of the Moscow Methodological Circle in the second half of the 60s - early 70s of the 19th century the author considers the cultural phenomenon of positional thinking. Special attention is paid to the philosophy of I.G. Fichte. An assumption is made and substantiated that Fichte’s dialectics is a model of specifically positional thinking and provides a basis for determining the objective content of the concept of “position”. The paper also describes the context of the emergence of positional schemes, their specific structure and use in the works of MMK as a normative-logical apparatus, an alternative to formal logic. It also outlines the area of topical problems associated with the concept of “position”.
Intellectual Integrity as Intellectual Virtue
Authors: Frolov Konstantin G.
Published: December 2020

In this paper, I examine intellectual integrity as one of the possible intellectual virtues. I also try to investigate the opposite notion, intellectual dishonesty. I conclude that intellectual dishonesty does not necessarily entail dishonesty in the moral sense, but just presupposes that an agent has her interest in a certain outcome of her research and that it influences her actions. The analyzed problem then looks as follows: on the one hand, we have every reason to believe that intellectual integrity is desirable for a researcher; on
the other hand, this requirement is not strictly necessary. Why? I show that although intellectual dishonesty negatively affects an agent’s personal ability to comprehend the truth, it can contribute to the achievement of the truth at the social level. We get such an outcome as a result of the confrontation of such motivated agents.
Transferencia de tecnología y conocimiento en el sector exportador de bovinos
Authors: Paternina-Pedroza Herwy , Linares-Morales José , Hernández-Ayala Katerine
Published: December 2020

El objetivo del presente trabajo es formular una estrategia de transferencia de tecnología y conocimiento en el sector exportador de ganado bovino de Barranquilla, Colombia. La investigación es de tipo descriptiva, con un diseño no experimental, transeccional y de campo; la población y muestra está constituida por 15 profesionales expertos del sector ganadero de Barranquilla agremiados en ASOGANORTE. Se empleó la encuesta como técnica y el cuestionario como instrumento de recolección de datos, constituido por 66 ítems bajo una escala tipo Likert, con cinco alternativas de respuesta. En los resultados las medias aritméticas muestran una muy alta presencia de la dimensión tipos de estrategias; alta presencia de las modalidades de transferencia y las etapas de adquisición; y mediana presencia de los mecanismos de transferencia. Se concluye que la estrategia formulada constituye un aporte para el desarrollo de una cultura tecnológica y el fomento de la inteligencia competitiva en las empresas exportadoras de ganado bovino de Barranquilla.
Percepción del riesgo laboral en trabajadores operativos del sector metalmecánico
Authors: Ahumada-Villafañe Irlena , Palacio-Angulo José , Posada-López Jorge , Darío-Orjuela Iván
Published: December 2020

Se diseñó un protocolo para la percepción del riesgo laboral con enfasis preventivo en accidentes y enfermedades laborales para las empresas del sector metalmecánico de la ciudad de Barranquilla, ubicado al norte de Colombia. La investigación es de tipo no experimental, descriptiva y transversal; para este estudio se utilizó, un cuestionario integrado por 74 ítems, divididos en 3 apartados: datos demográficos, conocimiento en prevención de riesgos laborales y la identificación de los factores de riesgos. Para validar el instrumento se utilizó el Alfa Cronbach el cual alcanzó un valor de 0.95. Los principales hallazgos nos indican que, los trabajadores presentan un nivel bajo en prevención de accidentes y enfermedades laborales. Se evidencia  falta de intervención del gobierno y pocos recursos de los empleadores para cumplir con la normatividad vigente.
Implementation Based Education (Learning-Gradual) through Traditional Games Mambe Tampun
Authors: Wagiono Feri , Shaddiq Syahrial , Sakman Sakman , Suprayitno Suprayitno
Published: December 2020

This article aimed to determine the application of learning-gradual based education through traditional games as a learning medium and to find out the strengths and weaknesses of implementing traditional games. This type of research is qualitative. The research subjects consisted of school principals, teachers, and students at MTS Miftahul Huda 2 Palangka Raya. Data collection techniques in this study used interview, observation, and documentation. The concept of education learning-gradual (LEGAL) combines the concept of learning gradually through traditional games as a medium of primary school learning in Miftahul Huda 2 Palangka Raya. In a traditional game, it has cultural worth and national character consists of mutual cooperation, cooperation, hard work, and democracy and can improve other aspects of child advancing, namely motoric, cognitive, emotional, language, social, spiritual, ecological as well as worth and moral aspects. The weakness is teachers struggle to divide the playgroup because students storm and run. It is hoped that teachers can implement traditional games as a learning medium, so that a nation's generation that loves local wisdom, culture, and morality is a relationship.

Keywords: Education of Learning-Gradual, Traditional Games,  .Mambe Tampun
HISTORICAL ASPECTS OF MILITARY-TECHNICAL COOPERATION UKRAINE-NATO AT THE PRESENT STAGE
Authors: Prokhovnyk Pavlo
Published: December 2020

The article analyzes the history of the development of military-technical cooperation between Ukraine and NATO as one of the defining areas of international military partnership. Taking into account specific historical circumstances and external aggression by the Russian Federation, the importance of Ukraine’s military-technical cooperation with partner countries for the implementation of political goals and objectives of the state for the development of defense industry and national security is emphasized. Ukraine faced new types of threats in all spheres of the state’s life, in the military in particular, which required active assistance from partner countries. The realities of the hybrid war, which has targeted our country, require new approaches to ensuring the state sovereignty and territorial integrity of Ukraine, including by strengthening military partnerships with the European Union and the United States. In modern geopolitical, socio-economic, international legal, military-political conditions, the nature, forms and directions of Ukraine’s military partnership need to be rethought and clarified. Today, Ukraine’s military cooperation with NATO is of a strategic nature, the tasks of which can be grouped into four key areas: maintaining military-political dialogue; assistance in reforming and developing the Armed Forces of Ukraine; ensuring contribution to international security and peacekeeping; defense and technical cooperation. As a result of this study, NATO membership will open new opportunities for Ukraine’s competitive defense industries and lay the foundation for military-technical cooperation at the international level. In this context, the myth that Ukraine’s accession to NATO will involve the collapse of Ukraine’s defense industry through the introduction of new NATO military standards, requirements for rearmament for our army is completely eliminated.
Selection of individual nutrition for patients with torpid course of atopic dermatitis
Authors: Артемьева Н.О. , Свечникова Е.В. , Максимова Ю.В. , Максимов В.Н.
Published: December 2020

Атопический дерматит (АД) - это воспалительное заболевание кожи, мультифакториальной или моногенный природы, характеризующееся зудом, хроническим рецидивирующим течением и возрастными особенностями локализации и морфологии очагов поражения. Доля заболевания в структуре кожных болезней в настоящее время составляет от 10 до 30%. Когда процесс приобретает упорное течение с невыраженным эффектом от проводимой терапии и обострениями процесса до 3-4 в год с увеличением их длительности, то становится вялотекущим (торпидным). Торпидное течение АД приводит больного к снижению качества жизни за счёт физического дискомфорта и эмоциональной дезадаптации. Подходы к лечению в теории зависят от механизма развития заболевания.

Atopic dermatitis (AD) is an inherited inflammatory disease of skin, multifactor or monogenic nature, characterized by itching, chronic recurrent current and age-specific features of localisation and morphology of lesion centers. The proportion of the disease in the structure of skin diseases is currently between 10 and 30%. When the process acquires a persistent course with an unparalleled effect from the performed therapy and exacerbations of the process up to 3-4 per year with increase of their duration, it becomes sluggish (torpedo) [1, 3]. The torpedo course of AD leads the patient to a decrease in the quality of life due to physical discomfort and emotional disadaptation. Approaches to treatment in theory depend on the mechanism of disease development.
Development of informatization conception in clinical and laboratory genetics
Authors: Глотов А.С. , Мухина А.И. , Забарова Л.В. , Цыренжапова С.Б. , Жуков Д.М. , Ручкина М.В. , Барбитов Ю.А.
Published: December 2020

Представлена концепция создания централизованной платформы для клинической и лабораторной генетики, а также произведен анализ конкурентных продуктов, обеспечивающих выполнение различных функций.

The concept of creating a centralized platform for clinical and laboratory genetics is presented, as well as an analysis of competitive products that provide various functions.
Communication in medical genetics and patient autonomy
Authors: Шевченко С.В. , Лаврентьева С.В.
Published: December 2020

В свете коммуникативных особенностей медико-генетической консультации рассматривается два типа этико-правовых проблем, касающихся автономии пациента. Показана роль первичной консультации в их решении.

In this paper we considered two types of ethical and legal problems regarding patient autonomy in perspective of the communicative features of the medical genetics. Also, this paper shows the role of the primary consultation in solution of this problems.
On the issue of timely application of high-throughput sequencing in ophthalmogenetic practice
Authors: Марахонов А.В. , Васильева Т.А. , Мишина И.А. , Репина С.А. , Гарифуллина С.А. , Щагина О.А. , Вассерман Н.Н. , Куцев С.И. , Кадышев В.В. , Зинченко Р.А.
Published: December 2020

Наследственная офтальмологическая патология представляет собой генетически неоднородную группу заболеваний, которые проявляются либо как изолированное глазное расстройство, либо как симптом наследственных синдромов (хромосомных или моногенных). Диагностический поиск в некоторых случаях наследственной офтальмологической патологии может быть трудоемким и дорогостоящим. Наиболее сложная ситуация возникает в случае продолжающейся беременности и необходимости дородовой диагностики. В настоящем сообщении рассмотрена необходимость своевременного применения методов высокопроизводительного секвенирования (ВПС) в офтальмогенетической практике. Схожесть клинических проявлений наследственной офтальмопатологии затрудняет верификацию конкретных нозологических форм. В сложных случаях, как представляется, ВПС является методом выбора, и это может существенно ускорить постановку точного диагноза и оценку генетического риска в семье.

Inherited ophthalmological pathology is a heterogeneous group of diseases that manifests itself either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, diagnostic search in some cases of ophthalmologic pathology can be laborious and expensive. The most difficult situation may arise when antenatal diagnosis is required during the ongoing pregnancy. In the present report the necessity of timely application of high-throughput sequencing methods in ophthalmogenetic practice is considered. Polymorphism of inherited ophthalmologic pathology may seriously hinder making an accurate diagnosis and make it time consuming and expensive. In complex cases, HTS appears to be a method of choice, and it can significantly speed up diagnosis confirmation of and genetic risk assessment.
Clinical polymorphism and genetic heterogeneity of inherited retinal diseases
Authors: Зольникова И.В. , Кадышев В.В. , Марахонов А.В. , Зинченко Р.А.
Published: December 2020

Наследственные заболевания сетчатки (НЗС) представляют собой класс офтальмологических болезней, в котором выделяют заболевания с преимущественным поражением палочковой системы и заболевания с преимущественным поражением колбочковой системы, включающие макулярные дистрофии. В представленном сообщении описана структура спектра НЗС в клинически полиморфной выборке на основании данных клинических, инструментальных (оптической когерентной томографии, аутофлюоресценции, электроретинографии) и молекулярно-генетических методов диагностики (NGS, секвенирование по Сэнгеру).

Inherited retinal disease (IRD) is a class of ophthalmic disorders in which can be classified into diseases of primarily of rod system and with primarily of cone system, which include macular dystrophies. In the presented report the structure of spectrum of IRD in clinically polymorphic is presented on the base of clinical, molecular-genetics and instrumental (OCТ, autofluorescencе, eletroretinography).
Evaluation of the contribution of matrix metalloproteinase gene polymorphism to the formation of glaucoma in men (analysis of three-locus gene models)
Authors: Свинарева Д.И.
Published: December 2020

Первичная открытоугольная глаукома (ПОУГ) - это хроническое заболевание глаз, сопровождающееся повышением внутриглазного давления и характерными изменениями поля зрения. Мужской пол является фактором риска развития глаукомы. Целью исследования явилось изучение роли трехлокусных моделей с участием 8 полиморфных локусов генов матриксных металлопротеиназ (rs679620 ММР3, rs1799750 ММР1, rs2250889, rs3918249, rs17576, rs3918249, rs3787268 и rs17577 ММР9) в формировании ПОУГ у мужчин. Нами выявлено 7 трехлокусных моделей SNP×SNP взаимодействий, определяющих подверженность к развитию ПОУГ у мужчин.

Primary open-angle glaucoma (POAG) is a chronic eye disease accompanied by an increase in intraocular pressure and specific changes in the visual field. Male gender is a risk factor for glaucoma. The aim of the study is research the role of three-locus models with the participation of 8 polymorphic loci of the matrix metalloproteinases genes (rs679620 MMP3, rs1799750 MMP1, rs2250889, rs3918249, rs17576, rs3918889 and rs17577 MMP9) in the POAG formation among men. We have identified 7 three-locus models of SNP × SNP interactions that determine susceptibility to the development of POAG in men.
Clinical and genetic characteristics of genetic skeletal disorders
Authors: Маркова Т.В. , Кенис В.М. , Мельченко Е.В. , Нагорнова Т.С. , Орлова А.А. , Вассерман Н.И. , Захарова Е.Ю. , Дадали Е.Л.
Published: December 2020

Представлены результаты анализа эффективности использования методов анализа ДНК для диагностики наследственных скелетных дисплазий (НСД) на основе анализа выборки из 270 российских пациентов. Показано, что использование различных молекулярно-генетических методов позволяет уточнить диагноз у 74% больных с клиническими и рентгенологическими признаками системных поражений скелета. Подсчитаны частоты встречаемости восьми групп НСД. Показано, что наиболее часто диагностируются FGFR3-хондродисплазии, коллагенопатии и болезни, обусловленные нарушением сульфатного обмена, на долю которых приходится 67,5% от всех диагностированных НСД.

The effectiveness of DNA analysis for diagnostics of genetic skeletal disorders (GSD) based on the investigation of the data of 270 Russian patients was evaluated. The usage of various molecular genetic methods allows to clarify the diagnosis in 74% of patients with clinical and radiological signs of systemic skeletal disorders. The incidence of 8 most common groups of NSD was calculated. It has been shown that the most commonly diagnosed conditions included FGFR3-relared chondrodysplasias, collagenopathies and diseases caused by impaired sulfate metabolism, which account for 67.5% of all diagnosed NSD.
A novel compound heterozygous variant in NBAS causing bone fragility by the type of osteogenesis imperfecta
Authors: Петухова Д.А. , Гуринова Е.Е. , Сухомясова А.Л. , Максимова Н.Р.
Published: December 2020

В статье представлены клинические, молекулярно-генетические характеристики 6-летнего пациента с клиническими признаками SOPH-синдрома, печеночной недостаточностью, а также хрупкостью костей по типу несовершенного остеогенеза. В результате массового параллельного секвенирования были обнаружены описанная мутация с.5741G>A (p.Arg1914His) и ранее не описанный миссенс-вариант c.2535G>T (p.Trp845Cys) гена NBAS в компаунд-гетерозиготном состоянии.

Here, we describe a case of a 6-year-old Yakut girl who presented with clinical signs of SOPH syndrome, acute liver failure (ALF) and bone fragility by the type of osteogenesis imperfecta. Targeted panel sequencing for 494 genes of connective tissue diseases of the patient revealed that he carried novel compound heterozygous missense mutation in NBAS, c.2535G>T (p.Trp845Cys), с.5741G>A (p.Arg1914His).
Orphan diseases: medical care in a specialized pediatric clinic
Authors: Николаева Е.А. , Харабадзе М.Н. , Боченков С.В.
Published: December 2020

Проведен анализ эффективности оказания медицинской помощи детям с редкими наследственными заболеваниями в специализированной генетической клинике. Установлено, что около половины госпитализированных больных (и их родственники) нуждалась в осуществлении генетических исследований для установления или подтверждения диагноза, уточнения формы заболевания, медико-генетического консультирования. При этом 20% обследованных детей нуждались в проведении дополнительного генетического тестирования или повторной биоинформатической интерпретации полученных данных.

The effectiveness of medical care for children with rare hereditary diseases in a specialized genetic clinic was analyzed. About half of the hospitalized patients (and their relatives) needed genetic research to establish or confirm the diagnosis, clarify the form of the disease, and provide medical and genetic counseling. About 20% of the examined children required additional genetic testing or repeated bioinformatic interpretation of the data.
The study of genetic and epigenetic factors in the development of osteoporosis
Authors: Ялаев Б.И. , Хусаинова Р.И.
Published: December 2020

Актуальным представляется комплексное исследование генетических и эпигенетических факторов и специфики их вклада в структуру патогенеза остеопороза. Обнаружена значимость полиморфных вариантов rs11540149, rs6854081, rs10098470, rs10793442, rs1054204 сайтов связывания микроРНК и rs3134069, rs3102734 и rs7844539 гена OPG в увеличении риска переломов и формировании низкого уровня минеральной плотности костной ткани.

Osteoporosis is one of the most common multifactorial diseases, which is characterized by a high risk of fractures and microarchitectural disorders of bone tissue. The study of genetic and epigenetic factors of this disease and their contribution to pathogenesis is relevant. We found the significance of the polymorphic variants rs11540149, rs6854081, rs10098470, rs10793442, rs1054204, rs3134069, rs3102734 and rs7844539 in increasing the risk of fractures and forming a low level of bone mineral density.
A case of Allan-Herndon-Dudley syndrome
Authors: Василькова Н.Ю. , Лукьянова Т.В. , Кобец М.М. , Комарьков И.Ф. , Рыжих А.Г. , Удалова В.Ю. , Сосницкая С.В.
Published: December 2020

Представлено клиническое наблюдение пациентов из одной семьи с редкой генетической патологией - синдромом Аллана-Херндона-Дадли. Семейный анамнез, клиническая симптоматика, молекулярно-генетический анализ важны для диагностики данного генетического синдрома.

Clinical case of patients from the same family with a rare genetic disease - Allan-Herndon-Dudley syndrome - is presented. Family history, similar clinical symptoms, genetic analysis are important for the diagnosis of this genetic syndrome.
Genetic risk factors for hepatitis B
Authors: Пивоварова Д.Д. , Машкина Е.В.
Published: December 2020

В работе в качестве материала для исследования были использованы образцы ДНК, выделенные из крови 99 людей в возрасте от 20 до 80 лет, из них 47 человек инфицированы вирусом гепатита В и 52 человека без вирусной нагрузки. По результатам исследования установлено, что аллель А полиморфизма rs1800450 гена MBL2 ассоциирован с высоким риском развития гепатита В, а наличие генотипа GG снижает такой риск; взаимодействие полиморфных вариантов гена STAT3 с генотипом GG гена MBL2 снижает риск развития гепатита В.

DNA samples extracted from the blood of 99 people aged 20 to 80 years were used as the material for our research. Among these people 47 were infected with HBV and 52 were not. The reseach found that the allele A of the rs1800450 polymorphism of the MBL2 gene is associated with a high risk of hepatitis B, and the presence of the GG genotype reduces this risk; interaction of polymorphic variants of the STAT3 gene with a GG genotype of the MBL2 gene reduces the risk of hepatitis B.