bluuebunny/crossref_metadata_2025 huggingface dataset:
Machine Learning Models for Accurate Prioritization of Variants of Uncertain Significance
Authors: Mahecha Daniel , Nuñez Haydemar , Lattig Maria , Duitama Jorge
Published: November 2020

The growing use of new generation sequencing technologies on genetic
diagnosis has produced an exponential increase in the number of Variants
of Uncertain Significance (VUS). In this manuscript we compare three
machine learning methods to classify VUS as Pathogenic or No pathogenic,
implementing a Random Forest (RF), a Support Vector Machine (SVM), and a
Multilayer Perceptron (MLP). To train the models, we extracted 82,463
high quality variants from ClinVar, using 9 conservation scores, the
loss of function tool and allele frequencies. For the RF and SVM models,
hyperparameters were tuned using cross validation with a grid search.
The three models were tested on a set of 5,537 variants that had been
classified as VUS any time along the last three years but had been
reclassified in august 2020. The three models yielded superior accuracy
on this set compared to the benchmarked tools. The RF based model
yielded the best performance across different variant types and was used
to create VusPrize, an open source software tool for prioritization of
variants of uncertain significance. We believe that our model can
improve the process of genetic diagnosis on research and clinical
settings.
Climate change affects cell wall structure and hydrolytic performance of a tropical forage grass as an energy crop
Authors: Freitas Emanuelle , Khatri Vinay , Contin Daniele , Oliveira Tassio , Contato Alex , Peralta Rosane , Santos Wanderley dos , Martínez Carlos , Saddler Jack , Polizeli Maria de Lourdes Teixeira de
Published: November 2020

Forage grasses, such as Panicum maximum, are important alternatives of
lignocellulosic biomass for bioethanol production. Thus, this study
investigates whether future climate conditions could influence P.
maximum cell wall structure and hydrolytic performance. A combined
temperature-free air controlled and a free-air carbon dioxide enrichment
(Trop-T-FACE) facility was used to investigated the isolated and
combined effect of elevated atmospheric CO2 concentration (eC) (600
μmol.mol-1) and elevated temperature (eT) by 2˚C more than the ambient
temperature, on cell wall composition, cellulose crystallinity,
accessibility, and hydrolysis yields. The elevated temperature
treatments (eT and eT+eC) exhibited the most pronounced effects. Warming
reduced starch content and crystallinity index (CI) of cellulose while
increased cellulose content. The fluorescent protein-tagged
carbohydrate-binding modules analysis demonstrated that warming led to
improvement in the total cellulose surface exposure/accessibility in eT
and eT+eC by 181% and 132%, respectively. Consequently, glucan
conversion yields were improved by 7.07 and 5.37%, showing that warming
led to lower recalcitrance in P. maximum biomass, which positively
affect its use in biorefineries. Therefore, this work provides important
information from an ecological and economic point of view, and might
assist in the selection of tropical forage grasses efficiently adapted
to climate changes with positive effect on bioenergy production.
Circuit theory approach to stability and passivity analysis of nonlinear dynamical systems
Authors: Ates Muzaffer
Published: November 2020

In this paper, we address the problem of global asymptotic stability and
strong passivity analysis of nonlinear and nonautonomous systems
controlled by second-order vector differential equations. First, we
construct this system or the differential equation from a nonlinear time
varying network of the circuit theory. Our system and with its real
energy function generalize and improve upon some well-known studies in
the literature. This system and its special forms have ample
applications in many scientific investigations. We realized that most of
the first- and second-order ordinary differential equations can be
represented by LRC circuits. So, the energy (Lyapunov) functions of the
systems can be constructed directly without much trial and error. By
this way, the application of Lyapunov’s direct method may become a
standard technique for physical systems. We illuminate this idea with
many applications and improvements. We also compare the Lyapunov
stability theory with Hamiltonian and Lagrangian systems in the sense of
conservative and dissipative systems. Then, we provide new explicit
stability and passivity results with minimum criteria.
Quasi-Laplacian energy of graphs based on R-graphs
Authors: BERBERLER MURAT
Published: November 2020

Graph energy is a measurement of determining the structural information
content of graphs. In this paper we determine the Quasi-Laplacian energy
of classes of composite graphs based on R -graphs.
FACAS TÁTICAS: NOVAS CONFIGURAÇÕES ERGONÔMICAS PARA ADEQUÁ-LAS À CAÇA E À PRÁTICA MILITAR
Authors: Bezerra Santos Weynner Kenneth , Marques Correia Walter Franklin
Published: November 2020

Este artigo apresenta uma investigação revisada das características estéticas e funcionais das facas táticas, isso é, aquelas projetadas estrategicamente para operações de risco, como nas atividades de policiais, bombeiros, socorristas, campistas, mergulhadores ou caçadores. Estes produtos tiveram seu desenvolvimento minimamente registrado na ciência formal, sendo que o conhecimento sobre o design e sobre a avaliação de facas táticas se deu quase exclusivamente em meio artesanal ou industrial. As empresas não revelam seus processos de design, e os artesãos que o fazem, não têm qualquer comprovação científica quanto aos resultados que alcançaram no decorrer das décadas: foi um processo de tentativa e erro, até se chegar a níveis de qualidade adequados aos usuários. Neste projeto, investigam-se possíveis diretrizes formais da ergonomia e da usabilidade de facas táticas que possam ser registradas e futuramente testadas na produção desses produtos, buscando registrar cientificamente tal linha de pesquisa e sua relevância à indústria da segurança. Desde à época da realização deste projeto de conclusão de curso, em 2012, até o ano corrente, não havia produções acadêmicas que definissem, classificassem ou testassem facas táticas, sob a visão de qualquer disciplina de análise de qualidade.
A ERGONOMIA DO AMBIENTE CONSTRUÍDO EM SALAS DE FISIOTERAPIA PARA CRIANÇAS COM PARALISIA CEREBRAL: UMA REVISÃO SISTEMÁTICA
Authors: Lôbo Marcella Vívian , Villarouco Vilma
Published: November 2020

Este artigo apresenta uma revisão sistemática de literatura relacionada ao entendimento do estado da arte em relação aos cuidados com os ambientes de tratamento de pessoas com deficiência. O foco do interesse para a definição das palavras-chave da busca contempla a interação de crianças com paralisia cerebral e os ambientes de fisioterapia no qual se inserem, a fim de encontrar diretrizes que já tenham sido elaboradas e questões pesquisadas envolvendo a temática. Como metodologia, a revisão sistemática baseou-se no método Cochrane, através da exploração exaustiva da combinação de palavras-chave através portal de Periódicos CAPES, gerando um número de artigos significativo, onde as vertentes de estudo nos últimos cinco anos, puderam ser percebidas como diretamente ligadas aos aspectos imediatos do tratamento, sem relação da percepção do espaço. Os resultados encontrados demonstram uma lacuna no estudo da interação entre as crianças com paralisia cerebral e os ambientes de salas de fisioterapia por elas utilizados para o tratamento diário, contribuindo assim com a pesquisa final fundamentando uma justificativa concreta para o estudo.
Antibiotic Resistance of Enteropathogen, Enteroinvasive and Shigatoxinogen E. coli Isolated in Fish from Layo Farm
Authors: -Ngbesso Kouadio
Published: November 2020

The objective of this work was to determine the antibiotic resistance and the resistance phenotypes of pathogenic strains of E. coli isolated from gills and viscera of fish from Layo ponds in “One Health” approach. Eleven (11) strains of E. coli belonging to the pathovars Enteropathogenic E. coli (EPEC=4), Shiga toxinogenic E coli (STEC=5), Enteroinvasive E. coli (EIEC=2) from our previous work on gills (7) and viscera (4) of fish Oreochromis niloticus, was tested by Müller-Hinton agar diffusion method. Nineteen (19) antibiotics divided into 9 differents families (Penicillins, Cephalosporins, Monobactam, Carbapenems, Quinolone, Aminoside, Cyclin, Phenicol, Phosphonique Acid) were tested. The results shown that all strains (100%) were resistant to amoxicillin, amoxicillin + clavulanic acid and piperacillin tazobactam. Resistance was also observed with 3 rd generation antibiotics (CTX, CAZ, FEP, TCG) and monobactam (ATM) in EPEC and STEC strains only. Fifty percent (50%) of resistance were observed to CTX and CAZ and 25% to Monobactam in EPECstrains. Fourty percent (40%) of resistance were observed to CTX and CAZ and 20% to Monobactam in STEC strains. More than half of strains studied were resistant to fosfomycin (63%). The resistance phenotype observed among E. coli pathovars (EPEC, EIEC and STEC) revealed that, 18% of EPEC and 9% of EIEC had a high level of penicillinase phenotype. A high level of cephalosporinase phenotype was represented respectively in 9% of EPEC and STEC. These resistances have been observed although antibiotics are not used in this farm reflecting the pollution of the fish living environment (supply water). Efforts are needed to promote more judicious use of prophylactic antibiotics in both human and animal health to reduce their presence in environment. If environment and everything that lives in are doing well, people will be doing well too.
The Muddle of Immune Response in Coronavirus Disease-19
Authors: AK Vyas
Published: November 2020

Coronavirus Disease-19 (COVID19) caused by the enormously spreadable SARS- CoV-2 virus has appeared as a global pandemic and leads to high mortalities. Approximately 31,243,339 people have been infected so far with this disease which has led to the death of more than 965,103patients as of 21st Sept 2020. There are many drug molecules under-trials are in phase I and II. The numerous possible candidates for vaccine development against this infectious virus are also in the pipeline. Although, so far no molecule as a therapeutics or vaccine for prevention has been approved. Recent reports have observed that severely ill patients have a differential immunological profile compared to mild COVID-19 infection. Current studies globally observed that the cytokine storm maybe leads to the severity of COVID19 infection. In this article, our focus is to describe the present knowledge and status of differential immune profile among patients infected with COVID19 infection and their association with disease progression mild to severe.
Application of wastepaper sludge ash as mineral powder for hot asphalt concrete mix
Authors:   Lviv Polytechnic National University, Department of Highways and Bridges, Hidei Volodymyr , Sidun Iurii ,   Lviv Polytechnic National University, Department of Highways and Bridges, Hunyak Oleksii ,   Lviv Polytechnic National University, Department of Highways and Bridges, Stanchak Svitlana ,   College of National Army Academy named after,  Hetman P. Sahaidachnyi, Bidos Volodymyr ,   Lviv Polytechnic National University, Department of Highways and Bridges
Published: November 2020

In this article the potentiality is proven for application of wastepaper sludge ash (WSA) as mineral powder for traditional hot asphalt concrete mix. For the comparative testing in this article the traditional limestone mineral powder is used. The chemical (oxide) composition of the aggregates was studied, while that was determined by means of DRON - 3.0 diffractometer. It was ascertained that CaO is present in wastepaper sludge ash in sufficient quantity, while it provides for utilization of this waste material as an aggregate for asphalt concrete. The limestone mineral powder granulometric composition was determined and the wastepaper sludge ash was grinded by ball grinder till the appropriate granulometric composition was reached. There were studied the main physical and mechanical parameters of bitumen 70/100 to be used for formation of asphalt binder in combination with the studied mineral aggregate. There were formed the following series of traditional hot asphalt concrete mix: on limestone mineral powder, on wastepaper sludge ash, on both limestone mineral powder and wastepaper sludge ash in ratio 50/50, 30/70, 20/80 (% w/w). By means of grading curves of dense-graded continuous mixes there was designed the chip-grain carcass of asphalt concrete mix. The asphalt concrete mix was designed based on the following characteristics: hot fine-grained densegraded asphalt concrete with residual porosity from 2 % to 5 %, with quantity of chip-grains sized more than 5 mm – 35-45 % and the maximum grain-size up to 15 mm. There was determined that WSA can perform as material to be used as mineral powder for asphalt concrete mixes. According to the requirements of Ukrainian standard (DSTU B V.2.7-119:2011), the asphalt concrete with WSA is of standard condition, but the water-saturation index approaches the acceptably allowed value, while in comparison with asphalt concrete with LMP – it is higher by 55%. Such result is due to the difference in oxide composition of the aggregates, namely lower content of products of calcareous rock in WSA. With combined application of limestone mineral powder and WSA in ratio 50/50, 30/70, 20/80 (% w/w) the water-saturation index decreases. As to the compression tensile strength and compression tensile strength after water-saturation, these indices on WSA are lower than on LMP just by 10%. The most efficient usage of WSA, considering the studies done, can be achieved when coupled with LMP in ratio 50/50.
Application of AHP and GRA methods in energy efficiency potential’s assessment of envelopes from natural materials
Authors:   Vinnytsia National Technical University, Department of Сonstruction, Architecture and Municipal Economy, Biks Yuriy , Ratushnyak Georgiy ,   Vinnytsia National Technical University, Department of Engineering Systems in Construction, Ratushnyak Olga ,   Vinnytsia National Technical University, Department of Enterprise Economics and Production Management, Ryapolov Pavlo ,   Vinnytsia National Technical University
Published: November 2020

The best choice of energy efficient envelope from variety of available materials is still the challenge. Therefore, the attempt of thermal performance multi-criteria evaluation of some building materials of natural origin for energy-efficient envelopes is conducted in present paper. Such types of walls from natural energy-efficient materials are considered in comparison assessment: hempcrete, adobe, strawbale panel, earthbag, cordwood, SIP (plywood+ecofiber), hempcrete+straw and energy efficient block. The influence of thermal inertia time, internal areal heat capacity, as well dimensionless index of thermal inertia D, the total thermal resistance of the walls Rtot-value, mass of the wall assembly and its cost have been taken into consideration as important influence factors. The multi-criteria numerical assessment of envelope’s energy efficiency potential was performed by two popular methods – Analytic Hierarchy Process (AHP) as the subjective weighting method and Grey Relation Analysis (GRA) as the objective weighting method. Both of methods allow to arrange the alternatives and could be applied as decision support tools in decision making (DM) process of choosing the best alternative in terms of multi-criteria assessment. For more objective analysis, by taking into account the variety of physical and physical-mechanical parameters of the wall assembly material, the concept of generalized index of the envelope energy efficiency potential is proposed. Conducted research has shown that the best envelope type in terms of of generalized index of energy efficiency potential has the hempcrete wall and hemcrete+straw wall, almost three times smaller has the wall of the earthbags. The walls from adobe, cordwood and strawbale panels have practically the equal value of generalized index of energy efficiency potential. It could be observed that AHP method shown more inhomogeneous results, than GRA. The possible reason for that is the difference in evaluation attitude in techniques - AHP is considered as the subjective method with pairwise comparison matrixes, while GRA is objective method of comparison.
Analisis Materi Pokok Matematika Kelas III MI/SD
Authors: Lestari Shindy
Published: November 2020

Analysis of mathematics subject matter in elementary school is a very important field of study taught at every level of education. The 2013 curriculum separates the field of mathematics studies from themes so that this field of study is a subject that stands alone. Through mathematics subject matter taught in elementary school can train students to think critically, rationally, logically, innovatively so that they have competitiveness. As for the problems discussed from the subject matter in elementary school mathematics which is seen from the suitability of the teacher's book and the student's book, in this case it discusses: 1) the scope of mathematics material grade 3rd elementary school, 2) the characteristics of mathematics subject matter in elementary school, 3) the relevance in elementary school mathematics subject matter to the scientific structure, namely student character, HOTS, 4C skills, literacy numeracy, digital literacy, financial literacy and character education, 4) learning innovation based on integration-interconnection in accordance with the science of development and technology and the needs of the community in the Industrial Revolution Era 4.0.
PENINGKATAN HASIL BELAJAR IPS SISWA KELAS V SDN 37 PEKANBARU MELALUI STRATEGI SENTENCE JOURNAL
Authors: Bela Putri , Erni Sukma
Published: November 2020

Penelitian ini bertujuan untuk mengetahui efektifitas pembelajaran dengan strategi sentence jurnal  dalam meningkatkan hasil belajar IPS  pada tingkat SD. Dilaksanakan dengan menggunakan metode penelitian tindakan kelas (PTK) dengan 2 siklus dan 4  kali tatap muka. Hasil penelitian menunjukkan terdapat peningkatan hasil belajar secara bertahap dari hasil tes pertama dan kedua. Dalam proses pembelajaran yang dilaksanakan guru terjadi optimalisasi tindakan mengikuti tahapan strategi sebanyak 97,2% pada tatap muka ke 4, diikuti dengan peningkatan kegiatan belajar siswa sebanyak 87,7%.   Hasil tes akhir setelah pembelajaran dilaksanakan adalah 83,3 % mencapai ketuntasan sesuai standar yang ditetapkan sekolah yakni 76.  Temuan penelitian tersebut menegaskan bahwa strategi sentence jurnal dapat digunakan sebagai salah satu strategi yang dapat meningkatkan hasil belejar IPS siswa tingkat sekolah  dasar
Reaksi Saham BUMN terhadap Kepemimpinan Erick Thohir
Authors: Fitriani Fitriani , Alfina Ulin
Published: November 2020

State owned Enterprise have arole as national economic actors. However, the policy issued by the minister of SOES will affect the structural and internal af the companies. The purpose of this study is to determine the reaction of SOES company share to the policy. The research used is quantitative descriptive reseach event study method. The population in this study were 20 SOES companies listed on the IDX with a sample of 5 SOES companies listed on the IDX the experienced structural changes due to Erick Thohirâ€™s policy. The technical analysis is by companing the average price 5 days before at the event (H-), the stock price at the time of the event (H), and the average price 5 days after the event (H+), the results of this study are an insignificant decline in four of the five companies share occurred only a few days abd rose again indicating its influencer is not significant.Keywords: Reaction, stoks, and policy.
Pemetaan Pengembangan Potensi Vokasi Pesantrenpreneur (Studi Kasus di Pondok Pesantren Darussalam Dukuhwaluh Purwokerto)
Authors: Hilyatin Dewi Laela
Published: November 2020

In the perspective of human resource development, Islamic boarding schools today are no longer seen as religious institutions. More than that, Islamic boarding schools are considered capable of holding broader social and educational functions, namely the professional craters at the same time as Muslim converts. As many researchers have revealed, today most Islamic boarding schools have vocational specifications as institutional branding: cultural centers, language centers, community counseling centers, centers of creative economic development and others. Darussalam Pesantren as one of the developing boarding schools in Purwokerto has quite a lot of potential that has not yet been mapped and developed. This research is directed to focus on discussing the methodology of mapping potentials and developing potential vocational messages for pesantren Darussalam schools.

From the research conducted it was concluded that the potential of Darussalam pesantren included: HR, facilities and infrastructure, the geographical location of the pesantren, the pesantren network and the legality of the pesantren. The mapping methodology includes: data collection, data presentation, data analysis and map usage. Vocational pesantrenpreneur that can be developed focus on economic and language development with three models, namely: Entrepreneurial Extracurricular, Student Internship and Industrial Maturity, Consolidation of Political Politics
Photography as a Practical Psychologist's Tool
Authors: Agalakova Anna Sergeevna
Published: November 2020

The article compares approaches to using photography as a tool of a practical psychologist: phototherapy; therapeutic photography; photo-art-therapy; creative self-expression therapy. The main techniques that use photography for psychological help are described, the psychological functions of photography are indicated. The article describes the method of phototherapy in the framework of a psychological project «PhotoProYavlenie» («Photo as manifestation»).
PENGARUH KEDISIPLINAN DAN MOTIVASI BELAJAR TERHADAP PRESTASI BELAJAR PESERTA DIDIK KELAS XI SMK NEGERI 3 MAUMERE
Authors: Wisang Imelda
Published: November 2020

Latar belakang penelitian ini adalah rendahnya disiplin pada peserta didik SMK Negeri 3 Maumere.Penelitian ini bertujuan untuk menganalisis pengaruh Kedisiplinan dan Motivasi Belajar terhadap Prestasi Peserta Didik Kelas XI SMK Negeri 3 Maumere baik secara parsial maupun secara simultan. Populasi dalam penelitian ini adalah peserta didik SMK Negeri 3, berjumlah 170 orang. Karena populasinya terbatas, maka penelitian ini dilakukan secara random sampling. Data dikumpulkan melalui quisioner dan dianalisis menggunakan metode statistik deskriptif dan statistik inferensial yaitu regresi linier berganda. Pengujian hipotesis dilakukan melalui Uji F dan Uji t. Hasil uji statistik menunjukkan bahwa variabel Kedisiplinan nilai thitung sebesar 2.937dengan nilai signifikan sebesar 0.004. Nilai signifikansi ini lebih kecil dari tingkat alpha yang digunakan 5% (0,05), maka keputusannya adalah menolak hipotesis nol (Ho) dan menerima hipotesis alternatif (Ha), bahwa secara parsial variabel Kedisiplinan Belajar(X1) berpengaruh signifikan terhadap variabel Prestasi Belajar. Sedangkan variabel Motivasi Belajar menunjukkan bahwa nilai thitung sebesar 2.888 dengan nilai signifikan sebesar 0.005. Nilai signifikansi ini lebih kecil dari tingkat alpha yang digunakan 5% (0,05), maka keputusannya adalah menolak hipotesis nol (Ho) dan menerima hipotesis alternatif (Ha), bahwa secara parsial variabel Motivasi Belajar berpengaruh signifikan terhadap variabel Prestasi Belajar. Selain itu, hasil koefisien determinasi (R2) sebesar 0.122 yang berarti bahwa kedua variabel bebas dalam penelitian ini (Kedisiplinan Belajar, dan Motivasi Belajar) mampu menjelaskan   variasi naik turunnya Prestasi Belajar  SMK Negeri 3 Maumere sebesar 12.2%. Peserta didik SMK Negeri 3 Maumere disarankan untuk terus meningkatkan dan memperbaiki beberapa sub indicator disiplin dan Prestasi Belajar yang mempunyai nilai  indeks lebih rendah dari nilai indeks Variabel.
A jól irányított állam fenntarthatóságának támogatása a járványügyi helyzet idején
Authors: Domokos László
Published: November 2020

A járványügyi helyzetben már eddig is számos negatív gazdasági és társadalmi hatás jelentkezett, amelyek enyhítésére törekedni kell. Az Állami Számvevőszék a tevékenységének ellátásával ezt a bizonytalan és nehéz helyzetet úgy igyekszik kezelni, hogy továbbra is biztosítani igyekszik a jól irányított állam fenntarthatóságát, ugyanakkor egy kicsit más megközelítésben. A vírus új módszereket követelt, más tevékenységek váltak hangsúlyosabbá, mint például a tanácsadói funkció, monitoring-ellenőrzések, amelyek alkalmazása a változás-, illetve válságmenedzsment és a digitalizációs eszközök nélkül nem történhetett volna meg. A cikk az Állami Számvevőszék munkáját, feladatellátását mutatja be, amely a jelenlegi járvány okozta negatív gazdasági és társadalmi helyzet javítását tűzi ki célul.
A helyi önkormányzati szolgáltatásszervezés fenntarthatósága
Authors: Buskó Tibor László
Published: November 2020

A tanulmány a fenntarthatóság szemszögéből, konkrét példák segítségével tekinti át a helyi önkormányzati közszolgáltatás-szervezést, kiemelt figyelmet szentelve a különféle menedzsmentismeretekhez, jártasságokhoz köthető belső fenntarthatóság, valamint az önkormányzat által felhasznált erőforrásokhoz köthető külső fenntarthatóság fogalmának. A hazai közigazgatás 2010 utáni nagy átalakítása felértékelte a belső fenntarthatóság – és ezzel együtt a változó körülmények közepette is stabilitást mutatni képes reziliens önkormányzati rendszer – fogalmát. Mivel azonban a fenntarthatóság szempontjából lényeges folyamatok jelentős része továbbra is a települések szintjén zajlik, nem kerülhető meg annak vizsgálata, milyen hatást képesek gyakorolni helyi önkormányzataink a (külső) gazdasági, társadalmi és környezeti alrendszerek fenntarthatóságára – még a helyi önkormányzatoktól 2010 után elvont közszolgáltatások esetében sem.
A normák kapcsolati rendszerének feltárása a hatékonyabb szabályozási formák kialakítása érdekében
Authors: Birher Nándor
Published: November 2020

Jelen tanulmány egy problémafelvetés: a teljesség igénye nélkül veti fel annak a kérdését, hogyan viszonyulnak egymáshoz a jog, az erkölcs és a vallás normarendjei, mi az a történelmi összefüggésrendszer, amely összekapcsolja őket. A „szabályozáskomplexitás” a normarendek viszonyát igyekszik vizuálisan is felvázolni – első lépésben a teljesség és a pontosság igénye nélkül, azzal a szándékkal, hogy lesznek avatott szakemberek, akik a szükséges pontosításokat elvégzik. A kérdés átfogó, hiszen az egész embert mint értelemmel és akarattal rendelkező létezőt érinti, annak egyéni és közösségi vonatkozásaiban egyaránt. A kérdés aktuális is, hiszen olyan problémák kerülnek előtérbe, mint az etikai alapú totalitárius társadalomszervezés vagy a vallási fanatizmusok. A kérdés a jövőbe mutató, hiszen a szabályozáskomplexitás teljesen új attitűdöt követel meg a jogászoktól és a társadalmi, gazdasági folyamatokkal foglalkozó bármely szakembertől is.
EKSISTENSI LELUHUR DALAM KEHIDUPAN MASYARAKAT NIAS
Authors: Wiradnyana Ketut
Published: November 2020

Masyarakat Nias menganut pola kekerabatan patrilineal, yang dalam berbagai aspek kebudayaannya sangat terkait dengan garis keturunan laki-laki. Konsep patrilineal tersebut sangat terkait dengan ide konsepsi pemujaan terhadap leluhur. Konsepsi pemujaan terhadap leluhur itu merupakan salah satu konsepsi religi pada budaya Megalitik dan  berkaitan dengan konsepsi ekonomi dan sosial. Berkenaan dengan itu maka konsepsi pemujaan leluhur menjadi sangat berperan penting dalam berbagai aspek kehidupan masyarakatnya. Jadi, upaya memahami kebudayaan masyarakat Nias itu diantaranya dapat juga dikenali melalui pemahaman tentang eksistensi leluhur, dengan berbagai peranannya di masyarakat. Pencapaiannya melalui alur pemikiran deskriptif-kualitatif yang dilakukan atas hasil penelitian arkeologis, etnografis dan juga mikrobiologi, pada akhirnya data yang terhimpun dianalisis dan dibandingkan dengan berbagai aspek pada kebudayaan dalam kaitannya dengan konsep leluhur pada masyarakat tradisional lainnya. Metode itu akan membantu mengidentifikasi berbagai aspek yang berkaitan dengan leluhur masyarakat Nias, seperti halnya aspek asal muasal dan waktu migrasinya ke Pulau Nias beserta berbagai peran konsepsi leluhur pada kehidupan masyarakatnya.
Mannose-binding lectin gene polymorphism in systemic lupus erythematosus nephritis
Authors: Allah Osama , Abdelall Alshimaa , Zakhary Madeha , Ahmed Nagwa , Goda Asmaa
Published: November 2020

Background: Systemic lupus erythematosus (SLE) is a complex trait characterized by the production of a range of autoantibodies and a diverse set of clinical phenotypes, including skin rash, neuropsychiatric and musculoskeletal symptoms, and lupus nephritis (LN). Mannan-binding lectin (MBL) is a recognition molecule of the lectin pathway of complement activation. We investigated MBL gene polymorphism at exon 1 codon 54 as a potential biomarker for SLE nephritis in the current study.
Methodology: A casecontrol study screened 70 participants. They were included in the study from the outpatient clinic or the inpatient section of the Rheumatology Department at Sohag University Hospital during July 2017-June 2019 for MBL gene polymorphism at exon 1 codon 54, which was detected by polymerase chain reaction using sequence-specific priming.
Result: There was a predominance of AA (wild) genotype in the control group (40%). Patient groups had a statistically significant equal higher frequency of heterozygous polymorphism (AB) (76%) than the controls. BB genotype showed a statistically significant lowest frequency in the LN group (p-value = 0.04).
Conclusions: MBL AB genotyping was more frequent in SLE patients either with or without nephritis than in the normal Egyptian population. BB genotyping was less frequent in LN patients than in patients without nephritis. The present study supports that the carriage of MBL AB genotype (heterozygous polymorphism at codon 54) was associated with both SLE and LN development in normal Egyptians.
STUDI PERBANDINGAN PEMAKAIAN PRIMER HBS1 DAN HBS2 DENGAN PRIMER P7 DAN P8 DALAM DETEKSI DNA VIRUS HEPATITIS B PADA PENDONOR DARAH
Authors: Nurtjahyani Supiana Dian , Amin Mohammad , Handajan Retno
Published: November 2020

Examination of the hepatitis B virus as a disease of hepatitis serologically has been carried out a lot, but this serological examination can experience problems if there is a low window period, so even though a negative test result is still possible in a patient's body infected with the hepatitis B virus, a fast and accurate examination is needed. PCR examination is an alternative solution to overcome this problem because the results are more accurate and valid because it can directly detect hepatitis B virus DNA as the cause of hepatitis B infection. This examination requires selecting the right primer so that accurate results are obtained. The aim of this study was to compare the use of HBS1 and HBS2 primers with P7 and P8 primers in the detection of Hepatitis B virus DNA in blood donors. The method used in this study is a laboratory experiment with Polymeration Chain Reaction (PCR) examination. The results showed that the HBS1 and HBS2 primers produced more positive HBV DNA by 76.92% compared to P7 and P8 primers, only 23.08%. Conclusion HBS1 and HBS2 primers can detect positive HBV DNA with more results.
Gene expression analysis in modeling Parkinson’s disease
Authors: Руденок М.М. , Алиева А.Х. , Колачева А.А. , Угрюмов М.В. , Сломинский П.А. , Шадрина М.И.
Published: November 2020

Несмотря на очевидный прогресс, достигнутый в изучении молекулярно-генетических факторов и механизмов патогенеза болезни Паркинсона (БП), в настоящее время стало ясно, что нарушения в структуре ДНК не описывают весь спектр патологических изменений, наблюдаемых при развитии заболевания. В настоящее время показано, что существенное влияние на патогенез БП могут оказывать изменения на уровне транскриптома. В работе были использованы мышиные модели досимптомной стадии БП, поздней досимптомной и ранней симптомной (РСС) стадиями БП. Для полнотранскриптомного анализа пулов РНК тканей черной субстанции и стриатума мозга мышей использовались микрочипы MouseRef-8 v2.0 Expression BeadChip Kit («Illumina», США). Полученные данные указывают на последовательное вовлечение транскриптома в патогенез БП, а также на то, что изменения на транскриптомном уровне процессов транспорта и митохондриального биогенеза могут играть важную роль в нейродегенерации при БП уже на самых ранних этапах.

Parkinson’s disease (PD) is a complex systemic disease, mainly associated with the death of dopaminergic neurons. Despite the obvious progress made in the study of molecular genetic factors and mechanisms of PD pathogenesis, it has now become clear that violations in the DNA structure do not describe the entire spectrum of pathological changes observed during the development of the disease. It has now been shown that changes at the transcriptome level can have a significant effect on the pathogenesis of PD. The authors used models of the presymptomatic stage of PD with mice decapitation after 6 hours (6 h-PSS), presymptomatic stage with decapitation after 24 hours (24 h-PSS), advanced presymptomatic (Adv-PSS) and early symptomatic (ESS) stages of PD. For whole transcriptome analysis of RNA pools of the substantia nigra and mouse striatum, the MouseRef-8 v2.0 Expression BeadChip Kit microchips (Illumina, USA) were used. As a result of the analysis of whole transcriptome data, it was shown that, there are a greater number of statistically significant changes in the tissues of the brain and peripheral blood of mice with Adv-PSS and ESS models of PD compared to 6 h-PSS and 24 h-PSS models. In general, the obtained data indicate the sequential involvement of the transcriptome in the pathogenesis of PD, as well as the fact that changes at the transcriptome level of the processes of transport and mitochondrial biogenesis can play an important role in neurodegeneration in PD at an early stage.
Changes in the cell-free DNA characteristics of the of patients with catatonic and paranoid schizophrenia compared with a healthy control
Authors: Ершова Е.С. , Мартынов А.В. , Шмарина Г.В. , Артюшин А.В. , Захарова Н.В. , Агафонова О.Н. , Костюк Г.П. , Вейко Н.Н. , Костюк С.В.
Published: November 2020

Исследованы характеристики вкДНК в плазмах крови подвыборок больных кататонической (КШ, N=46) и параноидной формой (ПШ, N=54) шизофрении в сравнении с выборкой психически здоровых людей соответствующего возраста. Обнаружено, что независимо от типа шизофрении, концентрация вкДНК возрастает почти в 2 раза по сравнению с контролем, и нуклеазная активность плазм крови больных также повышена. Мы определили, что уровень 8-oxodG в мононуклеарах больных КШ и ПШ не различается и значительно выше контроля, и содержание гистонов Н2АХ в двух подвыборках больных шизофренией также значительно выше, чем в лимфоцитах здоровых людей, при этом уровень двунитевых разрывов в подгруппе КШ выше, чем в ПШ. Клетки с двунитевыми разрывами гибнут, пополняя пул вкДНК. Повышенная нуклеазная активность способствует выведению быстро расщепляемых АТ-богатых фрагментов и накоплению GC-богатых фрагментов в составе вкДНК. ВкДНК больных шизофренией обогащена ГЦ-богатыми фрагментами теломерного повтора по сравнению с вкДНК здоровых доноров. В составе вкДНК больных КШ число копий ГЦ-богатого рибосомного повтора увеличено по сравнению с выборкой ПШ и контрольной выборкой. Все исследованные показатели в большей степени изменены в группе пациентов с кататонической формой шизофрении, что может свидетельствовать о более выраженном воспалительном процессе при кататонии.

CfDNA parameters of SZ patients with paranoid (N=54) and catatonic SZ (N=46) forms have been analyzed and compared with those of healthy controls. In the subjects from the both SZ forms, the mean cfDNA plasma concentration was twofold higher and NA of the plasma was higher than those in the healthy controls. In addition, peripheral blood lymphocytes of both SZ forms showed elevated levels of oxidized dna (8-OHDG) as well as increased number of double-stranded DNA breaks (flow Cytometry), and the ds-breaks level is higher in catatonic SZ. The cells with genomic DNA damages can undergo to unprogrammed cell death and contribute to circulating cfDNA. Increased DNase I activity in patients with schizophrenia promotes to cleave primarily AT-rich DNA-fragments and the accumulation of GC-rich fragments. Compared to those of healthy controls, plasma cfDNA samples of both SZ forms patients contained increased copy numbers of telomere DNA, as well as ribosomal RNA genes, and cf-rDNA concentration is higher in catatonic SZ group. Changes in cfDNA parameters was significantly higher in the catatonic SZ group, which may indicate a more pronounced inflammatory process.
Quantitative distribution of risk genotypes for schizophrenia patients withantipsychotic-induced extrapyramidal symptoms in Belarusian population
Authors: Голоенко И.М. , Объедков В.Г. , Горгун О.В. , Левданский О.Д. , Давыденко О.Г.
Published: November 2020

Исследование генетических предикторов антипсихотик-индуцированных экстрапирамидных симптомов и алгоритмов их использования поможет оптимизировать и персонализировать антипсихотическую терапию. Обнаружена высокодостоверная ассоциация антипсихотик-индуцированных эксрапирамидных симптомов с количественным распределением от 0 до 5 генотипов риска Del-/GSTM1; Del-/GSTT1; A2A2/rs1800497; AG/rs3892097; TT/rs1045642. Безопасность терапии антипсихотиками требует, как минимум, генотипирование по полиморфным локусам DRD2 и GSTM1 генов, а также индивидуальный подбор антипсихотиков для пациентов с тремя и более генотипами риска.

Investigation of genetic predictors of antipsychotic-inducedextrapyramidal symptoms and search for usage algorithms will help treatment optimization and personalization. There was a significant association (χ2=41,6; р=0,0000001) of antipsychotic-induced extrapyramidal symptoms with quantitative distribution of risk Del-/GSTM1; Del-/ GSTT1; A2A2/rs1800497; AG/rs3892097; TT/rs1045642 genotypes from 0 to 5. The safety of antipsychotic treatment least requires genotyping of DRD2 and GSTM1 genes as well as individual selection of antipsychotics for patients with three or more risk genotypes.
Cognitive domains association with genetic variability of apolipoprotein E in a sample of elderly Russians
Authors: Марусин А.В. , Макеева О.А. , Вагайцева К.В. , Бочарова А.В. , Степанов В.А.
Published: November 2020

Актуальным является поиск генетических вариантов связывающих снижение различных сфер мыслительных процессов с возрастом и болезнью Альцгеймера. Цель исследования - поиск взаимосвязи белковых гаплотипов двух полиморфных вариантов гена APOE с вариабельностью восьми доменов когнитивных функций пожилых людей, определяемых по баллам батареи тестов Монреальской шкалы оценки когнитивных функций (МоСА). Две наиболее высоко статистически значимые ассоциации выявлены для генотипа ε3/ε3 в сравнении с носителями аллеля ε4. Это домены памяти (р=0,002) и зрительно конструктивных навыков (р=0,007). Не обнаружено статистически значимых ассоциаций для когнитивных сфер: внимание и концентрация, исполнительные функции, язык, абстрактное мышление, счет и ориентация. Возможно, обнаруженные ассоциации обуславливают общую генетическую природу наследования болезни Альцгеймера, психических расстройств, деменции и интеллекта у пожилых людей.

The search for genetic variants linking the decline in various areas of cognitive processes with age and Alzheimer’s disease is relevant. The aim was to search for the relationship of protein haplotypes of two polymorphic variants in the APOE gene with the eight cognitive function domains variability in f the elderly. Domains were determined by the battery score of the Montreal Cognitive Assessmnet (MoCA). The two most highly statistically significant associations were identified for the ε3/ε3 genotype in comparison with carriers of the ε4 allele. These are memory (p = 0.002) and visuospatial abilities (p = 0.007) domains. No statistically significant associations were revealed for cognitive domains: attention and concentration, executive functions, language, abstraction, calculations and orientation. Possibly, the identified associations determine the general genetic baseline of inheritance of Alzheimer’s disease, mental disorders, dementia and intelligence in the elderly.
Associations of separate working memory parameters with apolipoprotein E gene polymorphism in Siberian adolescents: a population study
Authors: Суханов А.В. , Гуражева А.А. , Денисова Д.В. , Максимов В.Н.
Published: November 2020

Ген APOE - это один из наиболее известных генов, ассоциированных с развитием как сердечно-сосудистых, так и нейродегенеративных заболеваний центральной нервной системы, сопровождающихся нарушением когнитивных функций (КФ). В ходе настоящего исследования изучены ассоциации аллелей гена APOE с нарушением КФ у подростков г. Новосибирска. Состояние КФ было оценено у 231 мальчика (42,1%) и у 318 девочки (57,9%). Их средний возраст составил 15,66 ± 0,9 года. Выявлено, что наличие аллеля Е4 оказывает негативное влияние на состояние рабочей памяти уже в подростковом возрасте.

The APOE gene is one of the most famous genes associated with the development of both cardiovascular diseases and neurodegenerative diseases of the central nervous system, accompanied by impaired cognitive functions. In the course of this study, the associations of APOE gene alleles with cognitive functions violation in the adolescent population of Novosibirsk were studied. The state of cognitive functions was evaluated in 231 boys (42.1%) and 318 girls (57.9%). Their average age was 15.66 ± 0.9 years. It was revealed that the presence of the E4 allele of the APOE gene has a negative effect on the state of working memory even in adolescence.
CANVAS is a common form of late-onset hereditary ataxia
Authors: Нужный Е.П. , Абрамычева Н.Ю. , Воробьева Е.Г. , Иванова Е.О. , Шпилюкова Ю.А. , Белякова-Бодина А.И. , И Д.В. , Проскокова Т.Н. , Шпилюкова К.А. , Федотова Е.Ю. , Иллариошкин С.Н.
Published: November 2020

Синдром CANVAS (мозжечковая атаксия, невропатия и вестибулярная арефлексия) - аутосомно-рецессивная атаксия с поздним дебютом, обусловленная носительством биаллельной экспансии (AAGGG)n во 2-м интроне гена RFC1. До настоящего момента отсутствуют сведения о распространенности данного заболевания в российских семьях. Нами был проведен поиск биаллельной экспансии AAGGG-повторов у 35 российских пациентов с поздней мозжечковой атаксией. Верифицированы 5 пациентов (14,3%) с синдромом CANVAS и характерной клинической картиной.

CANVAS (cerebellar ataxia, neuropathy and vestibular areflexia) is a late-onset autosomal recessive ataxia due to biallelic (AAGGG)n repeat expansion in the 2nd intron of the RFC1 gene. There is no information on the CANVAS prevalence in Russian families. We searched for biallelic expansion of AAGGG repeats in 35 Russian patients with late-onset cerebellar ataxia. Five patients (14.3%) with CANVAS syndrome and a characteristic clinical picture were verified.
Spectrum of hereditary pathology characterized by congenital brain malformations
Authors: Кондакова О.Б.
Published: November 2020

Проанализирована клиническая картина у 196 пациентов с врожденными пороками развития (ВПР) головного мозга. Пациенты были обследованы с использованием методов нейровизуализации, цитогенетических и молекулярно-генетических методов. Проведен анализ спектра ВПР головного мозга. Самыми частыми ВПР головного мозга являлись аномалии церебральных комиссур, второе место занимали кортикальные мальформации, третье место - аномалии мозжечка. Хромосомная патология (включая микроделеционные синдромы) была выявлена у 19 пациентов (9,7%), моногенные болезни - у 27 пациентов (13,8%).

The clinical picture in 196 patients with congenital malformations of the brain was analyzed. Patients were examined using neuroimaging techniques, cytogenetic and molecular genetics techniques. The spectrum of congenital brain defects was analyzed. The most frequent congenital malformations of the brain were abnormalities of cerebral commissures, the second place was occupied by cortical malformations, the third place - abnormalities of the cerebellum. Chromosomal pathology (including microdelection syndromes) was detected in 19 patients (9.7%), monogenic diseases in 27 patients (13.8%).
Clinical case of homozygous familial hypercholesterolemia
Authors: Меситская Д.Ф. , Балашова М.С. , Жученко Н.А. , Потапкина А.Е.
Published: November 2020

Описан клинический случай гомозиготной формы гиперхолестеринемии. У пациентки с признаками дисплазии соединительной ткани (переразгибание локтевых и коленных суставов), наличием ксантом на локтях обоих рук и на ахилловых сухожилиях, выявлено повышение общего холестерина до 15,36 ммоль/л. При таргетном секвенировании 14-ти генов, ответственных за гиперхолестеринемию выявлено 2 варианта в гене LDLR: с.1889G>C (p.S630T) и c.663_683dupCTGCAAGGACAAATCTGAGGA в компаунд-гетерозиготном состоянии.

This report describes a clinical case of homozygous hypercholesterolemia. A patient with signs of connective dysplasia (elbow and knee joints hyperextension), presences xanthomatosis of on the elbows of both hands and on Achilles tendons showed an increase in total cholesterol to 15.36 mmol/l. Target sequencing of 14 genes responsible for hypercholesterolemia revealed variants in LDLR gene: c.1889G>C (p.S630T) and c.663_683dupCTGCAAGGACAAATCTGAGGA in a compound heterozygous form.
The study of the genetic component of eating behavior in a sample of obese Yakuts
Authors: Павлова Н.И. , Куртанов Х.А. , Дьяконова А.Т. , Соловьева Н.А. , Сыдыкова Л.А. , Александрова Т.Н.
Published: November 2020

Характер питания коренных жителей Севера сменился с белково-липидного на углеводно-липидный. Среди них увеличилось число лиц, страдающих ожирением, обусловленном не только сменой характера питания, но и гиподинамией. Целью исследования является изучение генетической составляющей нарушения пищевого поведения в выборке якутов с ожирением. Всего в исследовании принял участие 191 человек якутской национальности, из них 100 пациентов страдающих ожирением различной степени тяжести (73 женщины и 27 мужчин), в качестве группы сравнения сформирована выборка людей с нормальными показателями ИМТ (< 25) в количестве 91 человека (70 женщин и 21 мужчина). По результатам исследования, частота встречаемости мутантного аллеля А rs9939609 гена FTO во всей обследованной группе составила 27%, при этом доля лиц с генотипом АА составляла 9,4 %. Анализ распределения аллелей и генотипов полиморфизма rs27072 гена DAT1 показал преобладание предкового аллеля G (90,8 %) и генотипа GG (82,7 %) во всех обследованных группах.

The nature of the nutrition of the inhabitants of the North is from lipo-lipid. Among them, the number of obese people increased, due not only to the variable nature of nutrition, but also to physical inactivity. The aim of the study is to study the genetic component of eating disorders. In total, 191 people took part in the study, of which 100 people suffer from obesity of varying severity (73 women and 27 men), which allows us to compare a sample of people with normal MMT ((25) in the amount of 91 people (70 women and 21 men). According to the results of studies, the frequency of occurrence of the mutant allele A of rs9939609 FTO gene in all the studied groups is 27%, while the AA genotype is only 9.4%. An analysis of the distribution of alleles and genotypes of rs27072 polymorphism of the DAT1 gene showed the predominance of the ancestral G allele (90.8%) and the GG genotype (82.7%) in all examined samples.