bluuebunny/crossref_metadata_2025_split huggingface dataset:
OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical development
Authors: Oner Tulay Oncu , Unalp Aycan , Hiz Semra , Bayram Erhan , Kaytan Ismail , Cingoz Sultan 
Published: December 2021

AbstractObjective. Homozygous OCLN variants have been reported in patients with band‐like calcification with simplified gyration and polymicrogyria (BLC‐PMG) which is characterized by microcephaly, intracranial calcification and severe developmental delay. The OCLN gene encodes the integral membrane protein, occludin.Methods. Herein, we report three additional cases with homozygous OCLN variants that were identified via Trio‐WES in two consanguineous unrelated families.Results. We detected a previously reported frameshift variant in two cases in Family 1 and a novel missense variant in a case in Family 2. The potential pathogenicity of both variants in the index cases was investigated using in silico tools, and both variants were determined to be rare and predicted to be pathogenic. All of the presented cases exhibited clinical features in common with earlier reported patients, such as severe intellectual disability, microcephaly, polymicrogyria, epilepsy, hypotonia and severe developmental delay. On the other hand, in addition to the common phenotypic features, our two cases in Family 1 showed features similar to those previously reported in cases from two Turkish families carrying the same frameshift variant, such as renal failure.Significance. We herein expand the spectrum of OCLN gene variants with a description of an additional novel homozygous missense variant. The frameshift variant in Turkish cases may thus be a phenotype associated with renal failure in addition to the core phenotype associated with other OCLN gene variants, and such variants could be important for rapid molecular diagnosis and treatment. The frameshift variant in Turkish cases might also be investigated for both a potential founder effect and mutational hot spot.
Seizures in autoimmune encephalitis: specific features based on a systematic comparative study
Authors: Cousyn Louis , Lambrecq Virginie , Houot Marion , Shor Natalia , Nguyen‐Michel Vi‐Huong , Frazzini Valerio , Dupont Sophie , Demeret Sophie , Navarro Vincent 
Published: December 2021

AbstractObjective. To highlight specific characteristics of seizure semiology and EEG features associated with different subtypes of autoimmune encephalitis (AE).Methods. We systematically reviewed the seizure semiology and all the EEG recordings from patients with AE managed in a tertiary referral centre for epilepsy and a neuro‐intensive care unit. Each characteristic across the different subtypes of AE was compared by post hoc analysis.Results. We identified 66 patients with anti‐neuronal antibody‐mediated AE or Rasmussen's encephalitis (RE) experiencing seizures, which were the most frequent symptom at onset. Anti‐NMDAR and anti‐LGI1 AE accounted for the majority of patients; 41% and 24%, respectively. We isolated specific semiological features, such as early tonic‐clonic seizures (TCS) in anti‐NMDAR AE, early mesial temporal lobe seizures with emotional symptoms in anti‐GAD AE, somatosensory seizures in RE, and a lower frequency of TCS in anti‐LGI1 AE. EEG analysis also provided additional insights into distinguishing the subtypes based on: (1) generalized rhythmic delta activity, which was more sensitive than extreme delta brush in identifying anti‐NMDAR AE among all subtypes; and (2) temporal interictal epileptiform activity and temporal seizures on EEG in anti‐GAD AE. We identified a new EEG pattern consisting of temporal low‐voltage and periodic spikes associated with ipsilateral hippocampal abnormalities on MRI, which could be a sign of inflammatory mesial temporal involvement.Significance. Specific clinical and EEG features can be useful in guiding the diagnosis of a subtype of AE with acute symptomatic seizures, particularly before the results of anti‐neuronal antibody testing are available.
Epilepsy features in ARID1B‐related Coffin‐Siris syndrome
Authors: Proietti Jacopo , Amadori Elisabetta , Striano Pasquale , Ricci Emilia , Cordelli Duccio Maria , Bana Cristina , Dilena Robertino , Gardella Elena , Klint Nielsen Jens Erik , Pisani Francesco , Lo Barco Tommaso , Fiorini Elena , Fontana Elena , Darra Francesca , Dalla Bernardina Bernardo , Cantalupo Gaetano 
Published: December 2021

AbstractObjective. Coffin‐Siris syndrome (CSS) is a rare congenital malformation syndrome, caused by mutations in the ARID1B gene in over half of the cases. While the clinical characteristics of the syndrome have been increasingly described, a detailed evaluation of the epileptic phenotype in patients with ARID1B alterations and CSS has not been approached yet. We report seven patients with ARID1B‐related CSS, focusing on epilepsy and its electroclinical features.Methods. The evolution of epilepsy and EEG findings of children with CSS are described and compared with patients previously reported in the literature.Results. The patients described here reveal common features, consistent with those of patients previously described in the literature.Significance. The epilepsy phenotype of CSS due to ARID1B pathogenic variants may be described as focal epilepsy with seizures, variable in frequency, arising from motor areas, with onset in the first years of life and susceptibility to fever, and interictal perisylvian (centrotemporal) epileptiform abnormalities that are enhanced during sleep with possible evolution to an EEG pattern of continuous spike and wave during sleep (without documented developmental regression). Additional information emerging from other patients is needed to confirm this definition.
TRANSMISSÃO FAMILIAR DE SARS-CoV-2: O CUIDADO DEVE CONTINUAR EM CASA
Authors: Gauciniski Jonathas , Favero Eduarda , Fischer Lucas , Pontel Marlua , Gaedke Mari Ângela , Possuelo Lia , Schneider Ana Paula Helfer , Carneiro Marcelo , Koepp Janine 
Published: December 2021

A doença COVID-19, causada pelo novo coronavírus SARS-CoV-2, iniciada na cidade de Wuhan, na China, alastrou-se rapidamente pelo mundo provocando muitos óbitos. Esse estudo buscou identificar a prevalência de transmissão familiar de SARS-CoV-2 no município de Santa Cruz do Sul (RS). Trata-se de um recorte de um estudo transversal de base populacional que mensurou a soroprevalência de SARS-CoV-2 na região central do estado do Rio Grande do Sul, Brasil. O processo constitui-se de uma amostragem sistemática dos setores censitários, seguido de sorteio aleatório simples dos domicílios em cada setor conforme tamanho de amostra estipulado. Em cada domicílio uma pessoa foi aleatoriamente sorteada e convidada a participar do estudo, realizando exame de teste de diagnóstico rápido para a detecção qualitativa de anticorpos IgG e IgM contra SARS-CoV-2. Havendo teste reator IgM, todos os moradores presentes no domicílio no momento da coleta foram testados. Um formulário on-line foi utilizado para a coleta de dados, com informações sobre características sociodemográficas e questões ligadas à saúde do entrevistado. Totalizou-se 1.158 pessoas entrevistadas, com média de idade de 49,5±19,0 anos, sendo 62,7% do sexo feminino e 80,4% residindo na zona urbana. Dentre os 33 casos identificados com testes rápidos reatores, 23 tinham familiares presentes no momento da coleta, totalizando 46 familiares testados. Os achados sugerem que a prevalência de transmissão familiar seja de 47,8%, demonstrando ser essencial conscientizar a população frente aos cuidados que devem ser tomados para evitar a transmissão do SARS-CoV-2, principalmente em meios compartilhados, como no ambiente familiar.
МЕТОДОЛОГИЧЕСКИЕ ПОДХОДЫ К ОЦЕНКЕ ЭКОНОМИЧЕ-СКОЙ БЕЗОПАСНОСТИ РЕГИОНОВ
Authors: Курепина Наталья Леонидовна , Намруева Людмила Васильевна 
Published: December 2021

В современных исследованиях экономической безопасности в последнее время уделяется много внимания вопросам развития теории данной отрасли знаний. Связано это с изменением экономической ситуации, возникновением новых угроз и рисков.
Системный анализ понятийного аппарата, методологических подходов позволил сделать вывод о недостаточной изученности данной области знаний, выявить определенные неточности в определениях и рассмотреть основные направления совершенствования методологии оценки региональной экономической безопасности.
ОСОБЕННОСТИ ИНСТИТУТА КОНФЛИКТА ИНТЕРЕСОВ В СФЕРЕ ЗАКУПОК ТОВАРОВ, РАБОТ, УСЛУГ ДЛЯ ОБЕСПЕЧЕНИЯ ГОСУДАРСТВЕННЫХ И МУНИЦИПАЛЬНЫХ НУЖД
Authors: Записная Татьяна Валерьевна 
Published: December 2021

Целью статьи является анализ сущности и особенности правоотношений, возникающих в процессе и по поводу разрешения конфликта интересов в контрактной системе государственных закупок.
Методология исследования. Статья базируется на анализе норм российского права, регулирующих правоотношения в контрактной сфере, разъяснений Верховного Суда Российской Федерации, Федеральной антимонопольной службы России, правоприменительной практики, текстов современных теоретиков, позволяющих выявить особенности института конфликта интересов в контрактной сфере.
Результат исследования. В статье предпринята попытка ответить на вопрос об эффективности созданной системы по противодействию коррупции в сфере закупок, в частности, устранения конфликтов интересов в процессе государственных и муниципальных закупок.
Перспективы исследования. Результаты исследования могут быть использованы правоприменительной деятельностью при выявлении и устранении конфликта интересов в сфере государственных и муниципальных закупок.
ВЛИЯНИЕ ПАНДЕМИИ КОРОНАВИРУСА НА СОЦИАЛЬНО-ДЕМОГРАФИЧЕСКИЙ ПОТЕНЦИАЛ КРЫМСКОЙ МОЛОДЕЖИ
Authors: Чигрин Виктор Александрович , Зоткин Андрей Алексеевич , Узунов Владимир Владимирович 
Published: December 2021

Целью исследования является анализ влияния последствий пандемии коронавируса на особенности формирования социально-демографического потенциала крымской молодежи.
Методология исследования. В методологию исследования, результаты которого легли в основу статьи, положены требования классической социологии, предъявляемые как к очному анкетированию (до начала пандемии), так и к онлайн-анкетированию в период самоизоляции.
Результаты исследования. В статье определены факторы влияния пандемии на планы крымской молодежи относительно создания семей и рождения детей.
Перспективы исследования. В данной публикации даны прогнозы относительно развития социально-демографической ситуации на полуострове по окончании пандемии, что позволит органам власти формировать основы демографической политики на ближайшую перспективу.
СЕМЕЙНЫЙ ТЕЗАУРУС МОЛОДЫХ МУЖЧИН
Authors: Ильдарханова Чулпан Ильдусовна , Гневашева Вера Анатольевна 
Published: December 2021

Цель исследования обусловлена необходимостью изучения процессов формирования тезауруса молодых отцов, молодых людей, с целью выявления наследуемых общественных ценностных ориентиров, обоснования вероятных стратегических траекторий развития семейных, брачных и репродуктивных отношений.
Методология исследования представлена методологическими и теоретическими работами ученых, исследователей в области изучения молодежи как страты общества, а также применения тезаурусного подхода к оценке ценностных ориентаций общества. В исследовании применены методы корреляционной оценки переменных, а также графические методы оценки параллельных данных.
Результаты исследования позволяют сделать ряд выводов о наметившихся негативных тенденциях, подрывающих социально устойчивый тезаурусный концепт семьи, что требует дополнительного и более детального изучения с формированием соответствующих программ, в том числе и государственного уровня позиционирования образа семейно-брачных и репродуктивных отношений в ценностном концепте современной молодежи.
МЕТОДОЛОГИЧЕСКИЕ ПРОБЛЕМЫ КОЛИЧЕСТВЕННЫХ ОЦЕНОК И ПРОГНОЗОВ КЛИМАТИЧЕСКОЙ МИГРАЦИИ
Authors: Моисеева Евгения Михайловна 
Published: December 2021

Цель исследования. Исследование посвящено обзору и критическому анализу имеющихся на сегодняшний день оценок и прогнозов численности климатических мигрантов, а также методологических подходов, на которых они основаны.
Методология исследования. Рассматриваются базы первичных и вторичных статистических данных по климатической миграции, а также библиографические базы, научные статьи, монографии и доклады по этой теме. Для их анализа применяются стандартные общенаучные методы с целью получения качественной оценки достоинств и недостатков, перспектив и ограничений имеющихся эмпирических данных, методов их сбора и обработки, в том числе при построении прогнозов.
Результаты исследования. Выявлены особенности климатической миграции и ее статистического учета, затрудняющие получение объективной картины масштабов и направлений данных миграционных потоков на основе эмпирических данных. Определены сильные и слабые стороны различных методологических подходов к косвенной оценке численности климатических мигрантов и ее прогнозам.
Перспективы исследования. Проведенный анализ показал, что в целях уточнения количественных оценок климатической миграции необходимо с одной стороны совершенствование систем и методов сбора первичных статистических данных и комплексное применение различных методов ее изучения с другой стороны, поскольку ни один из имеющихся на сегодняшний день методологических подходов не свободен от своих недостатков. Названы наиболее перспективные направления для работы в данном направлении.
Modernization of NASA Johnson Space Center’s Chamber A to support Cryogenic Vacuum Optical Testing of the James Webb Space Telescope (JWST)
Authors: Cerimele Mary , Homan Jonathan , Garcia Sam , Garza Jaime , Hirsch Gabriel , Lauterbach John , Linza Robert , Vargas Gerardo 
Published: December 2021

Abstract
NASA is the mission lead for the James Webb Space Telescope (JWST), the next of the “Great Observatories,” scheduled for launch in 2021. NASA is directly responsible for the integration and test (I&T) program that culminated in an end-to-end cryo vacuum optical test of the flight telescope and instrument module in Chamber A at NASA Johnson Space Center. Historic Chamber A is the largest thermal vacuum chamber at Johnson Space Center and one of the largest space simulation chambers in the world. Chamber A has undergone a major modernization effort to support the deep cryogenic, vacuum and cleanliness requirements for testing the JWST. This paper describes the upgrades to the Chamber A facility: Thermal Shrouds, Helium Refrigeration, Liquid Nitrogen System, High Vacuum System, Clean Airflow System, and Utilities.
Designing Electronic Card Packages Against Shipping Shock
Authors: Taylor Christine , Notohardjono Budy , Khambati Suraush , Canfield Shawn 
Published: December 2021

Abstract
In optimizing packaging design, the product’s fragility is qualified by a protype undergoing quantitative and qualitative tests that rely heavily on past knowledge and experiments. By the addition of finite element analysis (FEA), the product’s fragility can be obtained in the initial stages of product design with material characterization and simulation. FEA can predict Gs on the product as well as examine the strains, which interpret product failure more easily in the design stage. To incorporate FEA, first the foam material was measured at various strain rates under compression. Next a shipping package containing an Al block with consistent density was dropped at different heights—610 mm (24”), 915 mm (36”), and 1067 mm (42”)—to confirm the methodology. An I/O book was packaged for the final demonstration incorporating FEA with an electronic card package. In an electronic card package, the electronic assemblies are sensitive to strains on the system board. If the strains on the board are high, the assemblies’ solder connections to the board could be damaged and result in a defect during shipment. The simulations’ predicted Gs and board strains were compared to experimental drop testing results at 610 mm (24”) and 915 mm (36”). The simulation results for each sensor location were within reasonable approximation of the experimental results, verifying that FEA could be used in the initial design stages to predict the accelerations and strains for packaging development in parallel to the product design.
Radiomic features of epicardial adipose tissue in coronary atherosclerosis
Authors: Popov E. V. , Anashbaev Zh. Zh. , Maltseva A. N. , Sazonova S. I. 
Published: December 2021

Aim. To investigate the association of the radiomic characteristics of epicardial adipose tissue (EAT) on contrast-free computed tomography (CT) of the heart with the severity of obstructive coronary lesion and myocardial ischemia.Methods. The study included 68 patients with coronary heart disease (mean age of 63.5±9.4, 45 men and 23 women), and 15 patients (mean age 30±4.8; 14 men and 1 woman) without cardiovascular disease as a control group. All the patients underwent multispiral computed coronary angiography, coronary calcium scores (CCS) determination and stress myocardial perfusion scintigraphy. Radiomic characteristics of EAT (texture analysis by gradations of gray color) were determined on non-contrast computer tomogram images of the heart using 3D-Sliser software and the SliserRadiomics module (version 4.10.2). The obtained indicators were compared between a control and under the study groups as well as between subgroups of patients divided according to the degree of obstruction of the coronary arteries, the size of the perfusion defect, and the value of the CCS.Results. The comparative analysis of radiomic indicators of EAT between patients with coronary artery disease and the control group showed the presence of statistically significant differences between them. At the same time, the correlation analysis in the study group did not reveal any correlations between the radiomic parameters and the size of the perfusion defect, CCS or degree of stenosis of the lumen of the coronary arteries.Conclusion. The textural characteristics of EAT in patients with coronary heart disease differ from those in individuals without cardiovascular pathology. At the same time, these indicators are not associated with the severity of obstructive lesions of the coronary arteries, the value of the CCS, and the size of the perfusion defect according to scintigraphy.
Dynamics of the number of myocardial revascularization operations in some countries in comparison with the Russian Federation in 2000–2018
Authors: Semenov V. Yu. , Samorodskaya I. V. 
Published: December 2021

Aim. To study the dynamics of the number of coronary artery bypass grafting (CABG) and percutaneous coronary interventions (PCI) in some countries and Russia in the 2000–2018..Methods. The data of the official statistics of the Organization for Economic Cooperation and Development on the number of CABG and PCI were used. The countries that have provided data for most of the analyzed years and have more than 30 CABG per 100,000 population (22 countries) were selected. Data on the number of interventions in Russia were obtained from the CNIIOiIZ and Bakulev NMICSSH. The US data are obtained from the literature.Results. In most countries, the number of CABG decreased by 2018.The United States, Denmark, Finland, Israel, and Luxembourg were the most variable in the average indicator. The most expressed decrease occurred in Finland (2.9 times). The number of PCI has increased significantly (in 9 countries by more than 2 times). The exception was the United States, where the number of PCI decreased by 2 times from 2003 to 2016. In Russia, there was an increase in CABG and PCI (by 10.2 and 50.5 times, respectively). The number of CABG and PCI per 100,000 population was 23 and 34 times less, respectively, in Russia than the international average in 2000, and 1.4 and 1.55 times less in 2018. The decrease in CABG is due to the improvement of PCI technologies, as well as the improvement of pharmaceutical treatment of coronary vessels. The number of proceedings, including court ones, on the validity of stent implantation is growing. The crosscountry variability of the use of cardiac surgical methods is influenced by the organizational and financial characteristics of the healthcare system, demographic and clinical characteristics of patients, the knowledge of doctors, etc. The experience of Russia fully confirms this.Conclusion. There is no optimal method for accurately assessing the population's need for certain treatment methods. Each country chooses its own tactics, taking into account its resource capabilities, approaches to decision-making, its values and preferences, but the general trend is a decrease in the number of CABG operations while increasing the PCI. In Russia, there is a multiple increase in the number of CABG and PCI, but it is less than the indicators of most countries.
Immediate clinical results of the new biological support ring for correction of mitral insufficiency
Authors: Dvadtsatov I. V. , Evtushenko A. V. , Stasev A. N. , Sotnikov A. V. , Komarov R. N. , Barbarash L. S. 
Published: December 2021

Aim. To make the first clinical experience evaluation of the new biological closed support ring for mitral valve.Methods. 26 patients (16 men, 10 women, mean age 55 [49; 62] years) with dysplastic mitral insufficiency were implanted “NEORING” biological ring for the first time from March 2020 to June 2021. The etiological factor of the defect formation in all cases was the connective tissue dysplasia. The mean functional class of heart failure before surgery was 2 [2; 3] according to NYHA, the effective regurgitant orifice (ERO) was 0.4 [0.3; 0.5], vena contracta was 0.7 [0.6; 0.8]. Ten patients received rings of 28 mm diameter, ten patients – 30 mm, six patients – 32 mm.Results. No significant adverse events such as death from any causes, strokes, myocardial infarction, cardiac complications, bleeding, and return of regurgitation or failure of plastic surgery requiring reoperation, infective endocarditis after the intervention were observed. In two cases a permanent pacemaker was implanted due to sinus node dysfunction. At discharge all patients had no regurgitation (ERO 0), medium transvalvular gradient was 4.0 [3.0; 5.3] mm Hg. All the patients were assigned to NYHA functional class I heart failure after the surgery.Conclusion. New biological support ring “NEORING” (“NeoKor”, Kemerovo) use in the middle age group of patients showed high hemodynamic efficiency, the absence of specific complications in the early stages after the surgery. It is planned to expand the clinical material on the use of the biological ring, as well as to evaluate the long-term results in the format of a prospective, randomized trial and compare the new device with the existing ones.