bluuebunny/crossref_metadata_2025 huggingface dataset:
Identificarea stereotipurilor implicite privind rolul organizaţional atribuit femeilor şi bărbaţilor
Authors: Vercellino Daniela , Ion Andrei
Published: November 2020

The present paper investigated the way in which implicit gender stereotypes can influence theperception of female and male leaders within organisations. We created an experimental taskbased on Greenwald and Banaji’s research (1995), methodology that is based on implicitassociations. The present study was conducted on 81 participants, and the results were basedon analyzing the reaction time and number of errors. The sampling process used the manageriallevel of the participants as criteria variable and we based our research on the three mostcommon managerial levels: top, middle and low management, taking also into consideration thenon-managerial levels. The results indicate that at non-managerial and low management levelthe implicit gender stereotypes continue to show some influences; instead, at top manageriallevel (where the important business decision are taken), implicit gender stereotypes does notinfluence the decision making process.
The Arctic Five: search for a balance of power in the region
Authors: Doroshenko I. S.
Published: November 2020

Due to climate change, the Arctic region becomes a place of geopolitical rivalry of both Arctic and non-Arctic states. Traditional formats for determining the agenda in the region are effective, but with the advent of the interest of an increasing number of international actors, these formats are transforming, which may affect the balance of power in the region. The growing activity of Asian countries in the Arctic, primarily China, is forcing regional states to make adjustments to the development strategy of the region. The rapid renewal of its potential in the northern territories of Russia caused a negative reaction from the western countries, especially after 2014.

Such aspirations have emerged as the internationalization of the region by Northern Europe and China, the desire to draw clear boundaries on the part of Russia and Canada, and the buildup of US influence on its colleagues in the North Atlantic bloc. This situation may cause an uncontrolled increase in tension in the region, especially if new alliances between the Arctic and non-Arctic countries are created. The author considers the current approaches of the countries of the Arctic five, analyzes the true motives of internationalization and the role of the format of the Arctic five in maintaining a balance of power and stability in the northern latitudes.
Key Trends and Results of Kazakhstan’s foreign economic cooperation with the EAEU Countries
Authors: Dodonov V. Yu.
Published: November 2020

Five full years of the functioning of the Eurasian Economic Union (EAEU) provide an opportunity to highlight the main trends of cooperation under this association and to summarize some of their results. The article discusses the trends and results of Kazakhstan’s foreign economic cooperation with the EAEU countries in the main areas, including mutual trade, mutual investments, as well as some others. The analysis revealed that in most areas of cooperation between Kazakhstan and the EAEU countries during the period of the union’s existence, leading dynamics were observed, which indicates the positive results for the national economy of the first five years of operation as part of the integration association.
Energy Policies in Central Asia: Main Outcomes
Authors: Markova E. A.
Published: November 2020

After the collapse of the USSR, Central Asian countries faced a number of political and economic challenges. The most pressing issues were inter-State interaction in the energy sector and the pursuit of their independent energy policy. But the efforts of the countries to implement integration projects in the energy sector failed. The Central Asian states had twin economies and poorly developed infrastructure. The main obstacle for expanding energy cooperation of the countries in the region was their geographical remoteness from the major hydrocarbon resource consumers. Despite the difficulties, the countries pursued a policy aimed at attracting foreign investment in the development of deposits and implementation of pipeline projects. China and Western countries had great influence on the discussion and further implementation of a series of pipeline projects. Central Asia was of great importance for China which sought to strengthen its influence in the countries of the region but curtail Russia and Western countries’ influence. In this matter, China has made significant progress with the pipeline projects in the region. The EU and the US were also promoting energy projects. However, the remoteness of the countries from the European market for hydrocarbon resources precluded projects for oil and gas pipelines going from Central Asia to the west to be implemented. As a result, the Central Asian countries largely opt for China and Russia, as an important partner, in the implementation of their energy policy.
Diagnostic value of thymus and activation-regulated chemokine and of periostin in eosinophilic asthma: A prospective study
Authors: Yormaz Burcu , Menevse Esma , Cetin Nihal , Celik Zeliha Esin , Bakir Hasan , Tulek Baykal , Korez Muslu Kazim , Suerdem Mecit
Published: November 2020

Background: Serum thymus and activation-regulated chemokine (TARC) and periostin are reliable biomarkers in eosinophilicasthma.Objective: This study was carried out to determine the use of periostin and TARC as biomarkers in asthma and to comparethe superiority of one over the other, especially in asthma with an eosinophilic phenotype.Methods: The study was conducted with 87 patients with asthma and 42 healthy control subjects. Patients with asthma were also divided into eosinophilic and non-eosinophilic phenotypes. A pulmonary function test was performed in all the participants,and serum and induced sputum TARC, periostin concentrations, eosinophils, and total immunoglobulin E valueswere examined.Results: TARC and periostin levels were significantly higher in the asthma group than in the control group (p < 0.001). The serum TARC level in the eosinophilic group was significantly higher than in the non-eosinophilic and control groups(p < 0.001). The induced sputum TARC level was significantly higher in the non-eosinophilic group than in the control group(p < 0.001). The TARC and periostin levels of the patients were evaluated by using receiver operator characteristic analysis.The cutoff value for TARC was determined to be 1415.39 ng/L; likewise, the cutoff value for periostin was 107.60 ng/L. Thepresent study detected that serum levels of TARC correlated to serum levels of periostin (r = 0.54; p = 0.032). Furthermore,when evaluating correlations between serum and sputum levels, there was a correlation detected between TARC and periostinin serum, whereas this correlation was stronger in sputum: r = 0.66, p = 0.020; and r = 0.62, p = 0.028, respectively.Conclusion: Serum and sputum TARC and periostin may contribute for monitoring the improvement of patients, particularly those with asthma. Furthermore, TARC was a more reliable biomarker than periostin for patients with eosinophilic asthma.
“BRAINballs” educational balls - An innovative teaching method in education "Children learn while playing"
Authors: Pham Van Han
Published: November 2020

The method of teaching using "BRAINballs" educational balls in physical education classes has been researched and widely applied to children of pre-schools and primary schools in Poland, with the aim of developing motor skills, improve physical development and academic achievement of students. In this article, we present an empirical pedagogical study using BRAINballs in teaching physical education classes to second grade students at primary schools in Vietnam. The purpose of the study was to examine changes in math skills, English and physical fitness in students from the experimental class compared to the control class at two times before and after the experiment. The results of this study will be the premise for further research to prove the effectiveness and suitability of BRAINballs when applied to teaching primary school students in Vietnam.
LAND CREATIONS AND FARMING SYSTEM TO INCREASE OF RICE PRODUCTIVITY AND FARMER’S INCOME (CASE STUDY IN BATANG TAMPO IRRIGATION SYSTEM - LINTAU BUO)
Authors: Asmuti Ayendra , Tjandra Agita
Published: November 2020

It is estimated that around 95 percent of national rice production is supplied from paddy fields, so the paddy fields is very strategic in national food securities. Therefore, the potential carrying capacity and productivity of rice fields must be maintained and developed. But on the contrary the productivity of paddy fields in Sub Das Tampo, Lintau Buo Utara, Tanah Datar District, West Sumatra, there is an indication of a decrease in paddy productivity in the last 10 years (Agita and Ayendra 2018). Decreased paddy productivity is indicated as a result of 1.) Drainage or nutrient deficit due to harvest carried out more than what is given through fertilization or addition of nutrients from irrigation water, 2). Excess or lack of certain nutrients due to unbalanced fertilization, 3). Decreased of soil organic content in the land and 4). Decrease in the quality of rice field management, especially: a). the use of inorganic fertilizers which causes low organic matter content and soil texture becomes porous quench, so it is less able to hold water, b). use of rotary plow in tillage for a long time which causes the processing layer and the depth of the root zone to become shallower ( into 10-15 cm), c). less intense of crop maintenance. This research was carried out by creating of soil tillage from 10-15 cm to 20-25 cm using a plow and increasing of organic matter by adding manure of 50 tons / ha (5% soil tillage zone ) to the rice fields in the Farmers Group of Tanjung Mutiara in Tampo Irrigation System, Nagari Lubuk Jantan , Kecamatan Lintau Buo Utara. The results of the study showed an increase in land productivity from an average of 3.2 tons / ha to 4.6 tons / ha and increase farmers' income by Rp 1.200.000 / ha.Key words : land creation, soil tillage, productivity
Laboratory investigation of co-precipitation of CaCO3/BaCO3mineral scale solids at oilfield operating conditions: Impact of brine chemistry
Authors: Zhang Zhang , Kan Amy T. , Tomson Mason B. , Zhang Ping
Published: November 2020

Oilfield mineral scale deposition can become severe flow assurance challenge especially for offshore deepwater productions. Hazards arising from scale formation and subsequent deposition include production system throughput reduction and eventually blockage. Among various types of scales, carbonates are among the most frequently observed scales in oilfield operations. Similar to many natural and industrial processes, co-precipitation of multiple scales can commonly be observed in oilfield operations. Although extensive research efforts have been made in the domain of understanding the thermodynamics of scale formation, there are limited studies to investigate the kinetic aspect of scale formation, particularly the kinetics of co-precipitation of multiple scales. In this study, the kinetic characteristics of CaCO3/BaCO3co-precipitation have been experimentally investigated at representative oilfield conditions of 80 °C and 1 M NaCl condition. The focus was given to the investigation of the impact of different brine chemistry conditions such as mineral saturation level and Ca to Ba molar ratio. The experimental results suggest that CaCO3saturation level, substrate material and molar ratio can impact the nature and morphology of the carbonate scales formed. An elevation of CaCO3saturation index from 0.6 to 2 will change the formed carbonate solids from calcite to aragonite. In addition, at a Ca:Ba molar ratio of 1:15 with an excessive aqueous Ba species available, Ba species can partition into CaCO3crystal lattice to distort CaCO3lattice, resulting in almost 2-fold increase in aqueous Ca concentration. The results and conclusions from this study have the potential to benefit oilfield scale control strategy development, particularly the one related to carbonate scale formation control.
ROLE OF THE PATENT SYSTEM IN THE INTERNATIONALI-ZATION OF THE DIFFUSION OF TECHNICAL KNOWLEDGE
Authors: Niklewicz-Pijaczyńska Małgorzata
Published: November 2020

The article attempts to show the role of the patent system in the internationalization of diffusion of technical knowledge. Its purpose is to analyse, use of international technical knowledge made available through patent systems, by Polish companies that are inventively active. For its implementation, research was carried out based on a qualitative analysis of the so-called patent citations, included in the technical documentation submitted for the protection of inventions. Conclusions resulting from the research show a high degree of internationalization of the diffusion of technical knowledge in relation to scientific and technical publications and low when the existing technical solutions are the basis.
Tratamento de seroma causado por intercorrência em bichectomia
Authors: De Souza Mário Silveira , Barbosa Célia Marisa Rizatti , De Oliveira Roberto Pontes Dias , De Souza Daniela Martins
Published: November 2020

Objetivo: Apresentar o relato de um caso de proposta terapêutica para seroma, diagnosticado por ecografia, que se desenvolveu após dez dias da cirurgia de bichectomia em paciente de 35 anos do gênero feminino. Detalhamento do caso: A indicação estética de bichectomia foi realizada para delineamento facial, ressaltando contornos do rosto e promovendo jovialidade. Diversas intercorrências podem ser observadas neste tipo de procedimento, no entanto, o diagnóstico de seroma parece apresentar raridade.  Após dez dias, observou-se presença de grande edema, de consistência rígida, na região da cirurgia do lado esquerdo. A paciente foi tratada com antibiótico e drenagens do exsudato até o completo colabamento das paredes internas da lesão. Considerações finais: A ocorrência de seroma após bichectomia pode estar associado a focos prévios de infecção bucal e ao uso de eletrocautério e que a proposta terapêutica por meio de antibioticoterapia por 20 dias associada a drenagens periódicas conforme a formação do edema por exsudato resultou em cura da lesão e manutenção da saúde.
Wujud Penanaman Nilai Pancasila pada Komunitas “Amak-Arak” Kampung Islam Kepaon
Authors: WULANDARI RIZA
Published: November 2020

Generasi muda memiliki peran penting dalam menjaga keutuhan pilar kebangsaan Indonesia. Ironi yang terjadi masyarakat saat ini sudah mulai luntur dalam merawat nilai nilai Pancasila dan Kebhinekaan akibat kemajuan teknologi dan ruang lingkup yang semakin modern. Tujuan dari penelitian ini adalah untuk menggambarkan perwujudan generasi muda Kampung Islam Kepaon dalam merawat nilai-nilai Pancasila di era digitalisasi. Metode kualitatif jenis studi kasus digunakan dalam menganalisa permasalahan dengan pisau asah Fungsionalisme Struktural milik Talcott Parson. Dari penelitian yang telah dilakukan dapat ditarik sebuah garis benang merah yaitu penanaman nilai Pancasila yang terkadung pada Komunitas Amak-Arak di Kampung Islam Kepaon adalah pada sila pertama Ketuhanan Yang Maha Esa dimana implementasi nilai yang terjadi adalah adanya toleransi, kebersamaan, kesatuan dalam setiap kegiatan yang melibatkan dua komunitas berlatar belakang agama yang berbeda. Kegiatan yang dilaksanakan secara bersama-sama dan melibatkan satu sama lain adalah seperti Tradisi Ngejot, perayaan Hari Raya Idul Fitri bagi umat Islam dan Hari Raya Nyepi, Galungan dan Kuningan pada umat Hindu. Sikap kebersamaan yang dijalankan mampu menciptakan perwujudan dari sila ketiga yakni Persatuan Indonesia
Upacara Entas-Entas di Pura Sanggha Bhuana Lanud Iswahyudi Maospati Magetan (Studi Nilai Budaya dan Potensinya Sebagai Sumber Pembelajaran IPS SMP)
Authors: Wahyuningtyas Ssri
Published: November 2020

Penelitian ini bertujuan untuk menganalisis dan mendeskripsikan prosesi upacara Entas-entas di Pura Sanggha Bhuana Lanud Iswahyudi Maospati Magetan, nilai-nilai budaya dan potensinya yang dapat dijadikan sebagai sumber pembelajaran IPS SMP. Penelitian ini adalah penelitian kualitatif yaitu berpikir secara induktif. Pendekatan yang digunakan peneliti adalah pendekatan interaktif jenis studi kasus yaitu peneliti terlibat langsung dalam penelitian. Data yang digunakan bersumber dari primer dan sekunder. Teknik pengumpulan data pada kondisi yang alamiah, observasi yang berperan, wawancara yang mendalam dan dokumentasi. Instrumen utama dalam penelitian ini adalah peneliti sendiri. Teknik keabsahan data menggunakan triangulasi. Data yang diperoleh dianalisis dengan teknik analisis data interaktif model Milles and Hubberman. Hasil penelitian menunjukkan bahwa Upacara Entas-entas merupakan ritual masyarakat Hindu yang relevan dengan kondisi masyarakat Indonesia khususnya masyarakat di wilayah Karesidenan Madiun saat ini, sehingga nilai-nilai budaya tersebut digunakan sebagai sumber pembelajaran IPS akan sangat menarik dan memudahkan guru maupun peserta didik serta generasi muda akan pentingnya kesadaran memanfaatkan potensi nilai-nilai budaya sehingga mencegah penyimpangan sosial yang terjadi di masyarakat. Pada upacara Entas-entas terdapat nilai edukatif, nilai praktis, nilai teoritis, nilai filsafat, nilai kemanusiaan dan nilai ketuhanan.
Kirab Pusaka Sunan Kumbul di Kecamatan Sawoo Kabupaten Ponorogo (Studi Nilai Budaya dan Potensinya Sebagai Sumber Pembelajaran IPS SMP)
Authors: Yuliani Yuliani
Published: November 2020

Penelitian ini bertujuan untuk mendiskripsikan dan menganalisis ceremonial dan nilai-nilai budaya upacara Kirab Pusaka Sunan Kumbul di Kecamatan Sawoo Kabupaten Ponorogo serta mendiskripsikan dan menganalisis potensinya sebagai sumber pembelajaran IPS SMP. Penelitian ini menggunakan pendekatan kualitatif deskriptif. Penelitian dilaksanakan di Kecamatan Sawoo mulai bulan Oktober 2017 sampai dengan bulan Agustus 2018. Informan ditentukan dengan purposive sampling. Validasi data digunakan teknik triangulasi sumber, sedangkan analisis datanya menggunakan model interaktif. Hasil penelitian menggambarkan bahwa Kirab Pusaka Sunan Kumpul merupakan upacara tradisional untuk mengiring pusaka Sunan Kumpul yang berupa Tombak Kyai Dora Manggala. Iringan-iringan dipimpin Camat Sawoo dan tokoh-tokoh pemerintahan kecamatan dan masyarakat. Sunan Kumpul tidak lain adalah Brojonatan yang dipercaya sebagai senopati dari Paku Buwono II Surakarta yang berjasa dalam kehidupan masyarakat Sawoo. Kirab pusaka ini menggunakan piranti/perlengkapan dan ceremonial yang mengandung nilai-nilai budaya, diantaranya; religius, gotong-royong atau kerjasama, rela berkorban, disiplin, saling hormat-menghormati, saling menghargai, patriotisme, patuh, bertanggung jawab, dan toleransi. Nilai-nilai tersebut memiliki potensi sebagai sumber pembelajaran IPS SMP kelas VII semester 1 yaitu pada KD 3.1 Memahami konsep ruang dan interaksi antar ruang di Indonesia serta pengaruhnya  terhadap kehidupan manusia dalam aspek ekonomi, sosial, budaya, dan pendidikan.
Upacara Adat Wisuda Waranggono di Kayangan Api Desa Sendangharjo Kecamatan Ngasem Kabupaten Bojonegoro (Nilai Budaya dan Potensinya Sebagai Sumber Pembelajaran Sejarah)
Authors: Dewi Vera Martina
Published: November 2020

Penelitian ini bertujuan untuk mengetahui latar belakang prosesi, nilai budaya yang terkandung dan nilai budaya yang dapat dijadikan sebagai sumber pembelajaran sejarah pada upacara adat wisuda waranggono. Penelitian ini menggunakan pendekatan kualitatif. Sumber data yang digunakan dalam penelitian ini yaitu sumber data primer dan sumber data sekunder. Teknik pengumpulan data menggunakan teknik wawancara, observasi dan dokumentasi. Sedangkan analisis data menggunakan teknik Coding Model Strauss dan Corbin. Hasil penelitian yang diperoleh yaitu Sebelum upacara dimulai para waranggono harus puasa dan juga mengikuti ritual siraman. Upacara adat wisuda waranggono dilakukan pada bulan syuro dan membutuhkan piranti gong lengkap dan menggunakan lagu mukdi rahayu dan ibu pertiwi. Nilai budaya yang terkandung dalam upacara adat wisuda waranggono adalah nilai religius, gotong royong, estetika, dan juga nilai kebersamaan. Upacara adat wisuda waranggono ini mempunya potensi sebagai sumber pembelajaran sejarah yakni sebagai materi tambahan dalam pembelajaran mata pelajaran sejarah di SMA kelas X semester I, dengan Standart Kompetensi Memahami prinsip dasar ilmu sejarah dengan Kompetensi Dasar Mendeskripsikan tradisi sejarah dalam masyarakat Indonesia masa pra-aksara dan masa aksara
Analysis of chromosome segregation in reciprocal translocation carriers
Authors: Тонян З.Н. , Пуппо И.Л. , Сайфитдинова А.Ф. , Логинова Ю.А. , Чиряева О. Г. , Кинунен А.А. , Пастухова Ю.Р. , Леонтьева О.А. , Бичевая Н.К.
Published: November 2020

Аутосомные реципрокные транслокации (АРТ) приводят к повышенному риску образования несбалансированных гамет вследствие патологической сегрегации хромосом в мейозе у носителей. В настоящей статье приведены результаты анализа типов сегрегации для 26 АРТ, а также определены теоретически возможные варианты сегрегации хромосом. В 73% случаев у носителей АРТ в более, чем 50% бластомеров наблюдалось совпадение теоретического и детектируемого типов сегрегации. Полученные данные можно использовать для оптимизации персонализированного медико-генетического консультирования семей, где один из супругов является носителем АРТ, и имеющих репродуктивные проблемы, высокий риск неразвивающейся беременности и/или рождения ребенка с хромосомной патологией.

Autosomal reciprocal translocations (ART) lead to an increased risk of imbalanced gametes formation due to pathological meiotic segregation. Segregation type was analyzed and theoretical segregation pattern was determined in 26 cleavage stage embryos in this article. A coincidence of theoretical and detectable segregation types was observed in more than 50 % of blastomeres in 73 % of cases. The data obtained may be used for personalized genetic counseling in families with high risks of recurrent spontaneous abortions, infertility or children with birth defects due to ART.
X-linked CNV and skewed X-chromosome inactivation
Authors: Фонова Е.А. , Толмачева Е.Н. , Кашеварова А.А. , Лопаткина М.Е. , Павлова К.А. , Лебедев И.Н.
Published: November 2020

Смещение инактивации Х-хромосомы может быть следствием и маркером нарушения клеточной пролиферации при вариациях числа копий ДНК на Х-хромосоме. Х-сцепленные CNV выявляются как у женщин с невынашиванием беременности и смещением инактивации Х-хромосомы (с частотой 33,3%), так и у пациентов с умственной отсталостью и смещением инактивацией у их матерей (с частотой 40%).

A skewed X-chromosome inactivation can be a consequence and a marker of impaired cell proliferation in the presence of copy number variations (CNV) on the X chromosome. X-linked CNVs are detected in women with miscarriages and a skewed X-chromosome inactivation (with a frequency of 33.3%), as well as in patients with intellectual disability and skewed X-chromosome inactivation in their mothers (with a frequency of 40%).
Quality of cytogenetic investigations: problems and ways for improvement
Authors: Антоненко В.Г. , Шилова Н.В. , Лукаш Е.Н. , Бабкеева Э.Р. , Малахов В.Н.
Published: November 2020

Представлены результаты экспертной оценки качества цитогенетических исследований в лабораториях РФ в системе межлабораторных сличительных испытаний «ФСВОК» в 2018-2019 гг. Обсуждаются наиболее частые причины неудовлетворительных результатов экспертизы и возможные пути улучшения качества цитогенетических исследований.

We report the results of quality assessment for preparation of cytogenetic slides and chromosomal analysis in the laboratories of Russian Federation in the system of the interlaboratory comparative examinations “FSVOK” in 2018-2019. Common causes of poor results of assessment and the ways for improvement of quality for cytogenetic investigations are discussed.
Molecular cytogenetic diagnostic algorithm for patients with a ring chromosome
Authors: Кашеварова А.А. , Лебедев И.Н.
Published: November 2020

Для обследования пациентов с кольцевыми хромосомами разработан и апробирован алгоритм молекулярно-цитогенетической диагностики, включающий дополнительно к уже проведенному стандартному кариотипированию микрочиповое исследование (aCGH), ПЦР в реальном времени и флуоресцентную in situ гибридизацию (FISH).

We developed and applied for patients with ring chromosomes an algorithm for molecular cytogenetic diagnostics which includes, in addition to the standard karyotyping, array comparative genomic hybridization (aCGH), real-time PCR, and fluorescence in situ hybridization (FISH).
Case of interstitial deletion of the short arm of chromosome 9 associated with disorders of sex development
Authors: Маркова Ж.Г. , Миньженкова М.Е. , Демина Н.А. , Шилова Н.В.
Published: November 2020

Делеции короткого плеча хромосомы 9 представляют собой клинически и генетически гетерогенную группу. Большинство описанных случаев представляют собой терминальные делеции или несбалансированные транслокации с различными с точками разрыва на коротком плече хромосомы 9. Интерстициальные делеции короткого плеча хромосомы 9 - крайне редко встречающаяся хромосомная патология. Мы сообщаем о пациенте с задержкой психомоторного развития, гипоплазией мозжечка и гипоспадией у которого при проведении хромосомного микроматричного анализа диагностирована интерстициальная делеция 9p24.3-p23, затрагивающая ген DMRT1.

Deletions of the short arm of chromosome 9 are a clinically and genetically heterogeneous group. Most of the cases described are terminal deletions or unbalanced translocations with different break points on the short arm of chromosome 9. Interstitial deletions of the short arm of chromosome 9 are an extremely rare chromosome pathology. We report a patient with developmental and psychomotor delay, cerebellar hypoplasia and hypospadias, who was diagnosed with interstitial 9p24.3-p23 deletion affecting the DMRT1 gene during chromosome microarray analysis (СMA).
Chromosomal abnormalities in the first-trimester fetuses with abdominal cysts
Authors: Новикова И.В. , Венчикова Н.А.
Published: November 2020

Проведено изучение частоты и спектра хромосомных аномалий (ХА) у 76 плодов при кистозных образованиях брюшной полости и малого таза, выявленных при пренатальном скрининге в I триместре беременности. Спектр патологических образований составили киста холедоха, атрезии двенадцатиперстной и прямой кишки/ануса, дисгенезия клоаки и мегацистис. Наряду с атрезиями желудочно-кишечного тракта и мочевых путей, в I триместре выявляются и другие патологические состояния: гетеротаксия и правосторонняя диафрагмальная грыжа. Частота ХА при выявлении у плода кистозных образований брюшной полости и малого таза в ранние сроки беременности в среднем составляет 23,7%.

First-trimester aborted fetuses with abdominal cysts (n=76) have been examined at anatomic-pathological investigation. A final diagnosis included choledochal cyst, duodenal and anorectal atresia, cloacal disgenesis syndrome and megacystis. Besides gastrointestinal atresia and lower urinary tract obstructions heterotaxy and diaphragmatic hernia have been revealed at morphological examination. In total 23,7% of fetal abdominal cysts in the first trimester of gestation were associated with chromosomal abnormalities.
Nonivasive prenatal DNA-screening the scope and the prospects of whole-genome sequencing
Authors: Шубина Е. , Барков И.Ю. , Гольцов А.Ю. , Мукосей И.С. , Кочеткова Т.О. , Ступко О.К. , Трофимов Д.Ю.
Published: November 2020

Неинвазивный пренатальный ДНК-скрининг (НИПС) начал использоваться в клинической практике в 2011г. и в настоящее время широко применяется, как и в мире, так и в России. Проанализирована встречаемость «редких» анеуплоидий при проведении полногеномного НИПС у 2061 пациенток и исходы беременностей при наличии таких результатов. Показано, что при анализе всего генома для полногеномного варианта НИПС можно получить дополнительную информацию, важную как для прогноза течения беременности, так и для прогноза плода. Это позволяет выделить дополнительную небольшую группу беременных, которым может быть рекомендовано более пристальное наблюдение в течение беременности или проведение дополнительных диагностических процедур. Однако для определения чувствительности и специфичности определения «редких» анеуплодий и CNV в настоящий момент недостаточно данных.

Noninvasive prenatal DNA screening (NIPS) is getting more widespread in clinical practice in Russia and all around the world. The use of shallow whole-genome sequencing for NIPS allows analysis of all chromosome aneuploidies; hence there are large-scale studies only on test performance on common trisomies. This study aimed to analyze the prevalence of «rare» aneuploidies using whole-genome NIPS and pregnancy outcomes in case of a high risk of «rare» aneuploidy. Noninvasive prenatal DNA screening was performed using in house developed protocol. We have analyzed 2061 samples. In 8 cases (0.4%) high-risk of rare trisomy was detected (3 - trisomy 7, 2 - trisomy 8, 1 - trisomy 10, 2 - trisomy 15). We have identified two cases of a high risk of large copy number variations (CNV). For all of the high-risk cases, we have information about pregnancy outcomes. Thereby whole-genome analysis will enable us to get the additional information and reveal pregnancies in need of further observation or testing. Hence there is not enough data for the estimation of sensitivity and specificity of detection of «rare» aneuploidies.
Trends in early prenatal screening for chromosomal abnormalities and congenital malformations in Russia in 2018
Authors: Калашникова Е.А. , Андреева Е.Н. , Голошубов П.А. , Одегова Н.О. , Юдина Е.В. , Жученко Л.А.
Published: November 2020

В ходе анализа результатов раннего пренатального скрининга (РПС) в России за 2018 г. (Аудит-2019) дана оценка качества мероприятий, общей эффективности и тенденций развития системы РПС в субъектах РФ посредством сравнения рассчитанных основных организационных, методологических и интегральных показателей с международными референтными значениями.

In the course of analyzing the results of early prenatal combined first-trimester screening (FTS) in Russia for 2018 (Audit-2019) the assessment of the quality of measures, the overall effectiveness and trends in the development of the FTS system in the regions of Russia. They are presented by comparing the calculated main organizational, methodological and integral indicators with international reference values.
Analysis of trisomy 21 risk in early prenatal screening
Authors: Зайцева Е.С. , Жукова Т.П. , Ратникова С.Ю. , Артемичева И.Л.
Published: November 2020

Важную роль в профилактике врожденной и наследственной патологии играет ранний пренатальный скрининг (РПС), включающий УЗИ, исследование сывороточных маркеров РАРР-А и β-ХГЧ, аудит. Обработка результатов обследования проводилась с помощью программы «Astraia». Анализ результатов РПС в Ивановской области за период 2013-2019 г.г. показал, что при охвате скринингом, в среднем, 85,3% беременных, вставших на учет до 14 недель гестации, выявлено 157 случаев хромосомной патологии и 126 случаев врожденных пороков развития. Однако в 55 случаях хромосомная патология плода не была заподозрена при скрининге, пациентки не попали в группу риска и родили больных детей (все дети имели трисомию 21). При этом в трети случаев (у 19 пациенток - 34,5%) риск трисомии 21 оценивался как промежуточный и находился в интервале от 1:100 до 1:1000, в том числе у 3 женщин (5,5%) - в интервале от 1:100 до 1:300. Мы полагаем, что пациентки с промежуточным значением риска хромосомной патологии плода нуждаются в дальнейшем обследовании с целью верификации диагноза, и их необходимо информировать о возможностях неинвазивного пренатального теста.

Early prenatal screening that includes ultrasound diagnostics, study of serum markers of PAPP-A and β-HCG, audit plays an important role in the prevention of congenital and hereditary diseases. The results of the study were processed with «Astraia». Analysis of the results of early prenatal screening in the Ivanovo region for the period 2013-2019 showed that when screening coverage, on average, 85.3% of pregnant women registered before 14 weeks of gestation, 157 cases of chromosomal pathology and 126 cases of congenital malformations were detected. However, in 55 cases, the diagnosis of fetal chromosomal pathology was not suspected during screening, and the patients were not at risk and gave birth to sick children (all children had trisomy 21). At the same time, in 1/3 of cases (in 19 patients - 34.5%), the risk of trisomy 21 was estimated as intermediate and was in the range from 1:100 to 1:1000, including in 3 women (5.5%) - in the range from 1:100 to 1:300. We suppose that patients with an intermediate risk of fetal chromosomal abnormalities need further examination to verify the diagnosis, and they should be informed about the possibilities of a non-invasive prenatal test.
The software for early prenatal screening of congenital malformations in children
Authors: Матулевич С.А. , Голихина Т.А. , Горобинский С.В. , Шумливая Е.О.
Published: November 2020

Разработан программный комплекс «Пренатальный скрининг» для раннего пренатального скрининга врожденных пороков развития у детей в Краснодарском крае.

The software package «Prenatal Screening» has been developed for early prenatal screening of congenital malformations in children in Krasnodar region.
Comprehensive clinical and genetic assessment of patients with transsexualism
Authors: Хаят С.Ш. , Курило Л.Ф. , Кузнецова И.А. , Миронович О.Л. , Поляков А.В. , Черных В.Б.
Published: November 2020

Транссексуализм - многофакторное нарушение формирования пола, этиология и патогенез которого, недостаточно изучены. В работе представлены результаты комплексного клинического и медико-генетического обследования 55 пациентов с транссексуализмом (ТС), проанализированы данные собственных цитогенетических исследований и исследования состояния гаметогенеза.

Transsexualism is a gender identity disorder with a multifactorial etiology and poor understood pathogenesis. The study presents the results of a comprehensive clinical and genetic examination of 55 patients with transsexualism, cytogenetic data and results of quantitative analysis of gametogenesis are evaluated.
Bacteriological sampling of peritoneal dialysis fluids. How to limit negative-culture peritonitis rate?
Authors: Grillon Antoine , Boyer Pierre Hugues , Heibel Françoise
Published: November 2020

Peritonitis is a major and serious complication in terms of morbi-mortality for patients treated with peritoneal dialysis. Their microbiological diagnosis is challenging for both the detection of the etiological agents and in interpreting positive cultures.

Many microorganisms can cause this infection; usual micro-organisms such as coagulase-negative staphylococci or Enterobacteriaceae, but also ‘atypical’ bacteria, which culture or detection, is more tedious can be found.

To identify the responsible bacteria, molecular biology and culture techniques can be set up. Molecular biology (particularly the sequencing of the universal 16s rDNA gene) makes it possible to identify atypical agents, but antimicrobial susceptibility testing cannot be performed following these technics.

The culture of peritoneal dialysis fluids remains the ‘gold-standard’ for the diagnosis of these infections. Nevertheless this must be optimized to enhance its sensitivity.

The etiological diagnosis of peritonitis in patients treated with peritoneal dialysis may be difficult, but modern microbiology combined with a bacterioclinical discussion allow the identification of the microorganism responsible for the infection in the great majority of the cases.
Acid base status of prevalent peritoneal dialysis patients
Authors: Azar Raymond , Coevoet Vincent
Published: November 2020

Acid-base status of patients on peritoneal dialysis is influenced by multiple factors. Metabolic acidosis is a common feature of chronic renal failure and dialysis treatment provides alkali in the dialysate in order to maintain a normal acid-base balance. This paper reports the prevalence of acid-base disorders in peritoneal dialysis patients and their associations with clinical and laboratory parameters. This is a cross-sectional retrospective study that included all PD patients registered in the RDPLF database. Metabolic acidosis was found in 20.4% of patients while 27.8% of patients had metabolic alkalosis. There is a significant relationship between age, protein intake estimated by nPNA and the level of alkaline reserve pleading in favor of the influence of dietary intakes in the maintenance of metabolic acidosis. Low residual renal function is associated with a lower probability of being in metabolic alkalosis. These results could allow an individual choice of the dialysate buffer in order to permanently obtain stable acid-base status in patients on peritoneal dialysis.
Efficacy of peritoneal dialysis in the treatment of refractory heart failure
Authors: Sánchez J.Emilio , Rodríguez Carmen , Astudillo Elena , Bande José Joaquín
Published: November 2020

Heart failure (HF) is a progressive disorder even with adequate treatment. Fluid removal may aid in the management of these patients. We evaluated the efficacy of peritoneal dialysis (PD) in the treatment of refractory HF.Patients and Methods : Prospective, non-randomized study involving patients with congestive HF refractory to maximun tolerable drug treatment. All of them were treated with PD. We analysed clinical data and functional status. To determine efficacy we compared the perceived state of health to PD patients respect to those reported with conservative therapies. Finally, we carried out a cost-utility evaluation.Results : Seventy-eight patients (68% men, 66±10 years) were included and 14 were still undergoing PD at the end of the follow-up period (22±9 months). Seventy patients underwent only one daily nocturnal exchange; the rest, 2 or 3 exchanges according to different degrees of renal failure. All of them improved their NYHA functional status, (4% three classes, 63% two, 33% one; p<0.001), with a reduction in their pulmonary artery systolic pressure (48±13 vs 28±10 mmHg; p=0.007). Hospitalization rates underwent a dramatic reduction (from 63±16 to 9±7 days/patient/year; p=0.002). Life expectancy on PD was 88% after 12 months of treatment, and 72% and 54% after 18 and 24 months. PD was associated with a perceived state of health higher than with conservative therapy, (0,416±0,218 vs 0, 658±0,114, p <0.02 ). PD is cost-effective compared with the diuretic regimens.Conclusions : PD is a good option for patients with refractory HF; it improves the functional status and quality of life, reduces morbidity, mortality and health care costs.
SUBCUTANEOUS EMBEDMENT OF THE PERITONEAL DIALYSIS CATHETER BEFORE US (The Moncrief-Popovich Technique) : IS IT STILL USEFULL 25 YEARS LATER ?
Authors: Morel Bertrand
Published: November 2020

Abstract :

In 1993 , Moncrief and Popovich described an innovative way of implanting a modified peritoneal catheter , by burying subcutaneously the proximal segment , after a classic laparotomy procedure . They thought that, covering the catheter during  the healing phase, would prevent the constitution of an intra-luminal bacterial biofilm, and, therefore, prevent secondary infectious complications, when performing dialysis. If it did not meet the infectious advantage , it appears that this technique of early implantation of the catheter , allows the onset of the treatment with a watertight and painless abdominal wall , with immediately using maximum volumes of dialysate .  We describe the technique as it was adapted to our center and practiced for more than  twenty years , reporting the results of a study in Chambery between 2006 and 2010 . Finally , we discuss the results published in the  literature .
Evolution of peritoneal dialysis technique failure from 2002 to 2017 in France. RDPLF data.
Authors: SCHWARTZ Benoît , TOURE Fatouma
Published: November 2020

English AbstractIn France, 6 to 7 % of patients with end stage renal failure are treated by peritoneal dialysis (1). Despite the annual augmentation of treated patients, it’s still under public health goal. Peritoneal dialysis technique failure is one restraint of technique growth in France. The RDPLF collect data about technique survival and infections since 1986. Technique failure width is on restraint of PD growth. We used available data to describe trends in the different causes of technique failure to identify areas with feasible improvement to increase technical survival. Methods: This retrospective study includes public data from RDPLF over the 2002-2017 period.Results: More than 30% of treated patients experience technique failure each year and transfer to hemodialysis count for 33%. Main causes of HD transfer are inadequate dialysis, peritonitis, catheter dysfunction and fluid inadequacy. The study of technique failure causes trends shows a decreased mortality form 51% in 2002 to 38% in 2017 (p<0.05), an increase of transplantation access from 15% to 22% (p<0.05). Transfer to hemodialysis is stable 33% to 36% in the same period. The analysis au hemodialysis transfer shows a decrease of peritonitis from 22% in 2002 and 26% in 2004 to 13.6% in 2017 (p<0.05). It shows a light increase of catheter dysfunction from between 7-8% during 2002-2005 period, to 8.6-11.8% during 2013-2016 period (p>0.05). Conclusion: Technique failure causes evolved over the past fifteen years in France, there is an improvement in mortality and access to transplant, a decrease in peritonitis. Despite technique improvement and new PD solutions (Icodextrine based, biocompatible), there is still 10% of PD patients transferred each year to hemodialysis without favorable trends.
Presentation and implementation of the first connected system of automated peritoneal dialysis in France
Authors: Caudwell Valérie , Pardon Agathe , Hanafi Latifa , Vittoz Nathalie Vittoz , CharguI Soumaya , Housset Pierre
Published: November 2020

The first system of connected automated peritoneal dialysis (APD) was set up in France in the CHSF. This system allows to collect and transmit the data of APD sessions via a modem and a platform towards the medical team and permits the remote adaptation of the treatments. This implementation required a number of steps on national and regional levels. We present the functioning and the expected benefits of such a system.
Revue de presse des jeunes néphrologues : 1er trimestre 2019 de la Dialyse à Domicile
Authors: Vrigneaud Laurence , Bataille Stanislas , Carceles Odette , Gosselin Morgane , Lanot Antoine , Lavainne Frederic , Morinière Beaume Julie , Nodimar Céline , Seret Guillaume
Published: November 2020

Un groupe de néphrologues issus du Club des jeunes Néphrologues sélectionne chaque mois à tour de rôle un article de la littérature internationale en rapport avec la dialyse à domicile, Dialyse Péritonéale ou Hémodialyse à Domicile, et en propose un résumé en Français et son analyse. Ces résumés sont librement téléchargeables sur le site du RDPLF à l’adresse : https://www.rdplf.org/biblio.html. Depuis décembre 2018 ceux sélectionnés au cours du trimestre par ces néphrologues sont publiés sous leur nom dans la présente rubrique du Bulletin de la Dialyse à Domicile.

Cette revue est mise à disposition selon les termes de la Licence Creative Commons Attribution 4.0 International.
Home hemodialysis with a central venous catheter
Authors: Gallot-Grelier Marion , Vincent Emilie , Target Natalia
Published: November 2020

Nowadays, there is a trend towards the development of home dialysis ; more than 300 patients in France benefit from this technique, mostly on a daily rythm (between 4 to 7 sessions per week, in a short period : 2 to 3 hours per session).

The majority of patients in home dialysis programs have an arterio-venous fistula as a vascular access. According to the RDPLF reports, only 13 patients dialyse regularly with a central venous catheter.

In this article we report the first patient trained for home dialysis making a self-connexion with the Physidia S3 system.
Dialyse longue nocturne à domicile à bas débit de dialysat.
Authors: Picault Christelle
Published: November 2020

J’ai 49 ans et je suis dialysée depuis que j’ai 36 ans, soit 13 ans de dialyse.

J’écris ce témoignage en espérant qu’il trouve une certaine universalité et qu’il fasse écho bien qu’étant le récit d’une expérience de vie singulière.

Le cœur du témoignage aborde essentiellement les quatre types de dialyses dont j’ai bénéficié.

Je relate les points négatifs et les plus-values de chaque type de traitement. Je ne développe pas le sujet de ma double greffe rein/pancréas en 2003 qui n’aura tenu qu’une année pour le pancréas et un peu plus pour le rein. Désormais en hyper-immunité, je suis à nouveau en attente de greffe mais consciente de la faible probabilité de trouver un greffon compatible.

C’est maintenant qu’il faut vivre en s’accommodant du traitement sous dialyse. Se préparer à une greffe tout en vivant pleinement le présent.C’est « mon petit témoignage », petit par rapport à ce que représente ma modeste expérience de dialysée, petit par rapport à l’histoire de chacun, à nos différences de vies et d’envies.

Cet article est mis à disposition selon les termes de la Licence Creative Commons Attribution 4.0 International.
La montagne dans le sang
Authors: Huré Fabrice
Published: November 2020

En France, près de 3 millions de personnes sont touchées par les maladies du rein. L’insuffisance rénale chronique touche environ 80 000 personnes. Sur ces 80 000 per¬sonnes touchées, 44 % d’entre elles bénéficient d’une greffe de rein, et 56 % sont dialysées. Sur les 48 000 dialysés, moins de 0.6 % sont en dialyse longue nocturne (HDLN) et seulement 15 % des dialysés actifs travaillent. A contra¬rio, à Rennes, sur 36 patients en HDLN, le pourcentage de dialysés actifs en situation d’emploi dépasse les 60 %. Fabrice Huré est l’un d’entre eux. Depuis l’âge de 20 ans, Fabrice est dialysé. Après une tentative de greffe qui est rejetée, Fabrice se rend à l’évidence : il est hyperimmunisé et devra être confronté aux dialyses pendant le reste de sa vie. Fabrice va donc commencer à construire une nouvelle vie en tant que malade et la dialyse longue nocturne va jouer un grand rôle dans l’amélioration de sa qualité de vie. C’est pourquoi, étant moins fatigué et plus en forme physiquement, il va essayer de relever des défis sportifs hors-normes pour un dialysé, notamment le trail de Bourbon de 112 km à la Réunion. Souhaitant mettre en avant son parcours et les bienfaits de la dialyse longue nocturne, c’est comme ça que le film documentaire « La Montagne dans le Sang » est né.

Cet article est mis à disposition selon les termes de la Licence Creative Commons Attribution 4.0 International.
Growth and nutritional management of children on peritoneal dialysis
Authors: Zaloszyc Ariane , Krid Saoussen , Ranchin Bruno
Published: November 2020

Stunting and malnutrition are common in children with chronic kidney disease and increase with the degree of impairment to be maximal in children at the dialysis stage, leading to a risk of excess mortality. Despite many advances in the field of pediatric dialysis, small size in adulthood remains very common in this population. The origin of malnutrition and stunting is complex and multifactorial. In infants on peritoneal dialysis, insufficient nutritional intake is recognized as a major barrier to adequate growth. The diagnostic approach to undernutrition and stunting in peritoneal dialysis requires the use of several elements: an interrogation, a clinical examination, and various complementary examinations. Due to the multifactorial aspect of the nutritional and statural status of the child, several therapeutic axes are to be taken into account, namely a nutritional treatment adapted to the needs of the child, a treatment by growth hormone, and an optimization of dialysis to allow optimal metabolic control.