bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular and epigenetic mechanisms of the involvement of redox-homeostasis genes in the development of various cardiovascular diseases
Authors: Бушуева О.Ю. , Барышева Е.М. , Марков А.В. , Королёва Ю.А. , Чуркин Е.О. , Назаренко М.С. , Полоников А.В. , Иванов В.П. 
Published: November 2020

В исследование были включены 1814 пациентов с артериальной гипертензией, ишемической болезнью сердца, мозговым инсультом и сочетанием этих заболеваний и 885 здоровых индивидов из Центральной России. Проведен молекулярно-генетический анализ 18 полиморфных вариантов генов редокс-гомеостаза (Р-Г) и анализ метилирования 4 генов Р-Г. Обсуждаются молекулярно-генетические и эпигенетические механизмы вовлеченности генов Р-Г в формирование распространенных сердечно-сосудистых заболеваний и их коморбидных форм.
A total of 1814 patients with arterial hypertension, coronary heart disease, cerebral stroke and a combination of these diseases and 885 healthy individuals from Central Russia were recruited for the study. Molecular genetic analysis of 18 polymorphisms of redox homeostasis (R-H) genes and analysis of methylation of 4 R-H genes were carried out. Molecular-genetic and epigenetic mechanisms of the involvement of R-H genes in the development of common cardiovascular diseases and their comorbid forms are discussed.
Association of polymorphisms of the KCNQ1 and ADIPOQ genes with the prognosis of type 2 diabetes
Authors: Мельникова Е.С. , Рымар О.Д. , Иванова А.А. , Мустафина С.В. , Шапкина М.Ю. , Bobak M. , Малютина С.К. , Ввоевода М.И. , Максимов В.Н. 
Published: November 2020

Цель работы - изучение ассоциации однонуклеотидных полиморфизмов rs2237892 гена KCNQ1 и rs6773957 гена ADIPOQ с сахарным диабетом 2 типа (СД2). На основе проспективного обследования репрезентативной популяционной выборки жителей г.Новосибирска сформированы две группы по принципу «случай - контроль». Группа СД2 (n=443, средний возраст 56,2 лет, мужчины - 28,8%, женщины - 71,2%), группа контроля (n=532, средний возраст 56,1 лет, мужчины - 33,8%, женщины - 66,2%) сформированы из банка ДНК международного исследования HAPIEE. ДНК выделена методом фенолхлороформной экстракции. Генотипирование выполнено методом ПЦР с последующим анализом полиморфизма длин рестрикционных фрагментов. Статистическая обработка проведена с использованием программного пакета SPSS 16.0. По частотам генотипов и аллелей полиморфизмов rs2237892 гена KCNQ1 и rs6773957 гена ADIPOQ не выявлено статистически значимых различий между группами, в том числе и при разделении по полу и возрасту (p>0,05). Значимого влияния rs2237892 гена KCNQ1 и rs6773957 гена ADIPOQ на риск развития СД2 не обнаружено.
The aim of this work is study the association of rs2237892 and rs6773957 with T2D in a case-control study. Two groups was formed based on the case - control study. The T2D group is 443 person (mean age 56.2 years, men - 28.8 %, women - 66.2 %), the control group was selected according to the sex and age from the DNA bank of project Health, Alcohol and Psychosocial factors In Eastern Europe (HAPIEE) (n = 532, mean age 56.1 years, men - 33.8 %, women - 66.2 %). DNA was isolated by phenol-chloroform extraction. Genotyping was done by PCR followed by analysis of restriction fragment length polymorphism. Statistical processing was performed using the SPSS 16.0 software package. The genotypes frequencies of rs2237892 of the KCNQ1 gene and rs6773957 of the ADIPOQ gene did not show statistically significant differences. There was no significant effect of rs2237892 of the KCNQ1 gene and rs6773957 of the ADIPOQ gene on the risk of developing type 2 diabetes.
Value of genetic testing of herminal tumor mutations in screening and prevention of malignant formations
Authors: Буяновская О.А. , Бурменская О.В. , Гольцов А. Ю. , Кочеткова Т.О. , Шубина Е. , Мишина Н.Д. , Трофимов Д.Ю. 
Published: November 2020

Проанализированы современные данные о роли генетического тестирования мутаций в генах, ответственных за предрасположенность к наследственному раку половых органов у женщин. Представлены данные о важности использования генетического тестирования в клинической практике для прогнозирования развития заболевания, необходимости последующего мониторинга при наличии мутационной нагрузки и выбора тактики комбинированной терапии при злокачественных новообразованиях
The authors analyzed available data in modern literature on the role of genetic testing for mutations in genes responsible for predisposing to hereditary cancers of reproductive organs in women. They are looking at data on the importance of using genetic testing in clinical practice to predict the disease development, need for follow-up monitoring in the presence of mutation load, and determination of combined chemotherapy policy for malignant neoplasms.
Advantages of high throughput parallel sequencing in detecting somatic mosaicism in sporadic retinoblastoma
Authors: Алексеева Е.А. , Бабенко О.В. , Козлова В.М. , Ушакова Т.Л. , Казубская Т.П. , Танас А.С. , Карандашева К.И. , Стрельников В.В. , Залетаев Д.В. 
Published: November 2020

Почти 80% случаев наследственной ретинобластомы не имеют семейного анамнеза и возникают в результате мутаций de novo в гене RB1. Методом высокопроизводительного параллельного секвенирования (ВПС) проведено молекулярно-генетическое обследование 208 неродственных больных со спорадической РБ, среди которых 145 пациентов с унилатеральной формой заболевания и 63 - с билатеральной. В группе пациентов с билатеральной РБ молекулярные изменения в гене RB1 обнаружены в 90,5% (57/63) случаев. У 4,8% (3/63) пациентов определен мозаичный вариант мутации в гене RB1. В группе пациентов с унилатеральной РБ молекулярные изменения в гене RB1 выявлены в 17,9% (26/145) случаев. Среди исследованных пациентов соматический мозаицизм выявлен в 9,0% (13/165) случаев. Применение ВПС позволяет точно определять аллельную частоту вариантов, что делает поиск соматического мозаицизма эффективным.
Almost 80% of cases of hereditary retinoblastoma do not have a family history and arise as a result of de novo mutations in the RB1 gene. An NGS test was performed on 208 unrelated patients with sporadic RB, including 145 patients with a unilateral form and 63 patients with a bilateral one. In the group of patients with bilateral RB, pathogenic variants in the RB1 gene were detected in 90.5% (57/63) cases. In 4.8% (3/63) of patients, a mosaic variants were determined. In the group of patients with unilateral RB, changes in the RB1 gene were detected in 17.9% (26/145) cases. Among the examined patients, somatic mosaicism was detected in 9.0% (13/165) cases. NGS allows us to determine the allelic frequency of variants, which makes the search for somatic mosaicism effective.
Association of a combination of alleles and genotypes of polymorphic variants of matrix metalloproteinase genes and their tissue inhibitors genes with a risk of developing of gastric cancer
Authors: Галлямова Л.Ф. , Нургалиева А.Х. , Хуснутдинов Ш.М. , Сакаева Д.Д. , Хуснутдинова Э.К. 
Published: November 2020

Проведен анализ распределения частот аллелей/генотипов полиморфных локусов rs1799750 и rs494379 гена MMP1, rs2285053 гена MMP2, rs3025058 гена MMP3, rs3918242 и rs17576 гена MMP9, rs2276109 гена MMP12, rs8179090 гена TIMP2 и rs9619311 гена TIMP3 у 314 пациентов с раком желудка, а также у 339 здоровых индивидов из Республики Башкортостан. С помощью алгоритма APSampler выявлены сочетания аллелей/генотипов, ассоциированные как с повышенным, так и с пониженным риском развития заболевания.
The analysis of the frequency distribution of alleles/genotypes of polymorphic loci rs1799750 and rs494379 of the MMP1 gene, rs2285053 of the MMP2 gene, rs3025058 of the MMP3 gene, rs3918242 and rs17576 of the MMP9 gene, rs2276109 of the MMP12 gene, rs8179090 of the TIMP2 gene and rs9619311 of the TIMP3 gene in 314 patients with gastric cancer, as well as in 339 healthy individuals from the Republic of Bashkortostan. Using the APSampler algorithm were identified combinations of alleles/genotypes associated with increased and reduced risk of developing the disease.
Somatic mutations in epigenetic regulation genes detected by NGS in gastric tumors
Authors: Немцова М.В. , Калинкин А.И. , Кузнецова Е.Б. , Алексеева Е.А. , Буре И.В. , Михайленко Д.С. , Танас А.С. , Стрельников В.В. 
Published: November 2020

Эпигенетические механизмы регулируют структуру хроматина и создают устойчивые закономерности экспрессии генов в процессе жизни клеток. Нарушение эпигенетической регуляции играет значительную роль в канцерогенезе, инвазии, рецидивировании и метастазировании опухолей и может служить полезным клиническим маркером. Мутационное профилирование генов эпигенетической регуляции в опухолевых образцах рака желудка позволит определить новые клинические и прогностические маркеры и дополнительные таргеты для лечения пациентов. В статье представлены первые результаты исследования соматических мутаций в генах эпигенетической регуляции, проведенного методом NGS.
Epigenetic mechanisms regulate chromatin structure and create stable patterns of gene expression during cell life. Violation of epigenetic regulation plays a significant role in carcinogenesis, invasion, recurrence and metastasis of tumors, and can serve as a useful clinical marker. Mutational profiling of epigenetic regulation genes in tumor samples of gastric cancer will allow us to identify new clinical and prognostic markers and additional targets for the treatment of patients with gastric cancer. This article presents the first results of a study of somatic mutations in the epigenetic regulation genes carried out using NGS.
The results of the use of molecular genetic technologу for the diagnosis of tuberous sclerosis
Authors: Аношкин К.И. , Карандашева К.О. , Алексеева Е.А. , Кузнецова Е.Б. , Демина Н.А. , Гусева Д.М. , Танас А.С. , Залетаев Д.В. , Стрельников В.В. 
Published: November 2020

Проведено комплексное молекулярно-генетическое обследование пациентов с диагнозом туберозный склероз. Комплекс включает высокопроизводительное параллельное секвенирование с глубоким покрытием для выявления точковых мутаций и инделов, MLPA для выявления протяженных делеций и секвенирование по Сэнгеру. В выборке из 202 пациентов мутации найдены в 96,5% случаев; из них точковые мутации и инделы - в 93,3%, а протяженные делеции - в 6,7%. В 5,9% были найдены мутации с низкой аллельной представленностью (мозаицизм).
A comprehensive molecular genetic examination of patients with diagnosis of tuberous sclerosis was carried out. The complex includes NGS with deep sequencing for detecting point mutations and indels, MLPA for identification of extended deletions, and Sanger sequencing. Mutations was found in 96,5% cases from 202 samples. Point mutation and indels were found in 93,3% cases, extended deletions were found in 6,7%. Mutations with low allelic representation were found in 5,9%.
Analysis of the physical status of HPV-positive patients with primary operable non-small cell lung cancer
Authors: Гаптулбарова К.А. , Цыганов М.М. , Ибрагимова М.К. , Родионов Е.О. , Певзнер А.М. , Литвяков Н.В. 
Published: November 2020

Изучена возможная взаимосвязь между вирусом папилломы человека (ВПЧ) и возникновением рака легкого (РЛ). В настоящее время доподлинно не установлено влияние вирусной инфекции на течение данного злокачественного новообразования. Кроме этого, не существует работ на российской популяции о сравнении выживаемости вирус-позитивных и вирус-негативных пациентов с диагнозом РЛ.
The present study examined the possible relationship between human papillomavirus (HPV) and the occurrence of lung cancer (RL). Currently, the effect of viral infection on the course of this malignant neoplasm has not been established for certain. In addition, there is no work on the Russian population on comparing the survival of virus-positive and virus-negative patients with a diagnosis of RL.
Penerapan Project Based Learning dengan Pendekatan STEM dalam Upaya Meningkat Kemampuan Menyusun Program CNC Pada Kelas XI Teknik Pemesinan SMK Negeri 3 Mataram
Authors: Muhaimin Anwar 
Published: November 2020

Penelitian ini bertujuan untuk mengetahui pengaruh penerapan pembelajaran project based earning dengan pendekatan STEM terhadap peningkatan kemampuan siswa kelas XI Teknik Pemesinan SMK Negeri 3 Mataram dalam menyusun program CNC pada mata pelajaran Teknik Pemesinan CNC. Penelitian ini merupakan penelitian tindakan kelas dengan menerapkan tiga siklus. Pengukuran kemampuan menyusun program CNC menggunakan empat yaitu kemampuan menyusun kepala program, kemampuan menyusun parameter-parameter pemrograman, kemampuan menyusun kode G dan kode M, dan kemampuan menyusun addres-address pemrograman. Hasil penelitian menunjukkan bahwa pada indikator menyusun kepala program terdapat 100% siswa yang mencapai nilai ketuntasan belajar baik pada siklus pra tindakan, siklus I maupun siklus II. Pada indikator menyusun parameter-parameter pemrograman, siswa yang mencapai nilai ketuntasan belajar terdapat 50 % pada siklus pra tindakan, 70% pada siklus I, dan 95% pada siklus II. Pada indikator menyusun kode G dan kode M, siswa yang mencapai nilai ketuntasan belajar terdapat 15 % pada siklus pra tindakan, 65 % pada siklus I, dan 82% pada siklus II. Pada indikator menyusun address-address pemrograman, siswa yang mencapai nilai ketuntasan belajar terdapat 0 % pada siklus pra tindakan, 55 % pada siklus I, dan 80% pada siklus II
Empresas militares e de segurança privada nos mares: novos posicionamentos sobre os serviços de proteção armada contra a pirataria
Authors: Patriarca Gabriel , Lopes Cleber Da Silva 
Published: November 2020

Refletindo uma responsabilidade estatal pela segurança marítima estabelecida há pelo menos um século e meio, posicionamentos contrários à proteção armada de embarcações civis foram sustentados por diversos stakeholders do transporte marítimo. Contudo, nas duas últimas décadas, o ressurgimento da pirataria e do roubo armado contra navios promoveu a prestação de serviços de proteção armada por empresas militares e de segurança privada (EMSPs), primeiro no Sudeste Asiático e depois no Chifre da África. No segundo caso, o fenômeno provocou mudanças nos posicionamentos anteriormente contrários à prática, notados pela literatura especializada de maneira fragmentada e genérica. Este artigo revisa essa literatura com o objetivo de explorar o modo como novos posicionamentos foram estabelecidos diante do maior protagonismo assumido pelas EMSPs, analisando as condições e a direção dessas mudanças. O trabalho identifica um ponto de inflexão nos posicionamentos de algumas das principais associações da indústria de transporte marítimo, do maior mercado de seguros marítimos, da Organização Marítima Internacional e dos Estados de bandeira e costeiros.
Apostrofisuus Paavo Rintalan teoksessa Sarmatian Orfeus
Authors: Romppainen Päivikki Kirsimarja 
Published: November 2020

Artikkelissani tarkastelen yhden modernin proosamme klassikon, Paavo Rintalan myöhäistuotannon romaania Sarmatian Orfeus (1991). Paavo Rintalan myöhäisessä proosatuotannossa tapahtui 1980- ja 1990-luvun taitteessa tyylillinen murros verrattuna hänen aiempaan tuotantoonsa.
PELATIHAN PENYUSUNAN LAPORAN HASIL PENELITIAN TINDAKAN KELAS (PTK) UNTUK GURU SD NEGERI 5 PADANGSAMBIAN
Authors: Agetania N L P , Mery Marlinda N L P , Dedy Setiawan I M , Diansih Fortuna I K A , Febriani Thalib Emmy , Permana I P Hendika , Suryana I P G Eka , Widiyaningsih N N , Maswari K Laksmi 
Published: November 2020

ABSTRAKDalam kegiatan pembelajaran, seorang guru sudah pasti akan berhadapan dengan berbagai persoalan baik menyangkut peserta didik, subject matter, maupun metode pembelajaran. Sebagai seorang profesional, guru harus melakukan peningkatan mutu pembelajaran secara terus menerus agar prestasi belajar peserta didik optimal. Untuk mewujudkan hal tersebut guru harus dibekali dengan kemampuan meneliti, khususnya Penelitian Tindakan Kelas. Tujuan dari kegiatan pengabdian ini adalah meningkatkan kemampuan guru-guru SD Negeri 5 Padangsambian, dalam menyusun laporan PTK yang sesuai dengan sistematika. Pelaksanaan kegiatan pengabdian masyarakat meliputi beberapa kegiatan yaitu Pengumpulan Data, Indentifikasi Masalah, Analisis Kebutuhan Materi Pelatihan, Perancangan dan Penyusunan Modul Pelatihan, Pelaksanaan Pelatihan, dan Dokumentasi Kegiatan dan Laporan. Dari kegiatan pengabdian masyarakat yang dilakukan, dapat ditarik kesimpulan bahwa pelatihan penyusunan laporan PTK kepada guru-guru SD Negeri 5 Padangsambian yang telah dilakukan, mampu meningkatkan kemampuan guru-guru dalam penyusunan laporan PTK sebesar 81,26%. Kata kunci: pelatihan; penelitian tindakan kelas. ABSTRACTIn learning activities, a teacher will certainly be dealing with various problems both regarding students, subject matter, and learning methods. As a professional, teachers must continuously improve the quality of learning so that students' learning achievement is optimal. To realize this the teacher must be equipped with the ability to research, especially Classroom Action Research. The purpose of this community service activity is to improve the ability of Padangsambian 5 Elementary School teachers to compile PTK reports in accordance with systematics. The implementation of community service activities includes several activities, namely Data Collection, Problem Identification, Analysis of Training Material Requirements, Training Module Design and Preparation, Training Implementation, and Documentation of Activities and Reports. From the community service activities carried out, it can be concluded that the PTK report preparation training for Padangsambian State Elementary School 5 teachers has been able to improve the ability of teachers in PTK report preparation by 81.26% Keywords: training; classroom action research
INOVASI PEMBUATAN PEMPEK BAGI PELAKU USAHA KECIL PEMPEK DI KOTA PALEMBANG
Authors: Dodo Murtado Asep 
Published: November 2020

ABSTRAKINOVASI PEMBUATAN PEMPEK BAGI PELAKU USAHA KECIL PEMPEK DI PALEMBANG. Bertujuan untuk mensosialisasikan dan memberikan bimbingan teknis dan manajemen inovasi pembuatan pempek berupa tepung pempek bagi pelaku usaha pempek di kota Palembang. Pempek dikenal sebagai makanan tradisional kota Palembang yang dibuat dari campuran ikan giling dan tepung tapioca dan disajikan dengan cuko pempek. Keterbatasan SDM yang terampil dalam pembuatan pempek, dan keterbatasan umur simpan pempek, menjadikan pempek terbatas untuk didistribusikan ke daerah yang lebih luas. Pada tahun 2016 (Murtado) berhasil menciptkan tepung pempek sebagai bahan pembuatan pempek yang terbuat dari ikan giling dan tepung tapioka yang diolah menjadi campuran kering homogen. Dengan tepung pempek, membuat pempek menjadi lebih mudah dan cepat. Umur simpan tepung pempek mencapai dua tahun sehingga penanganan dan distribusi lebih mudah dan sederhana. Kegiatan berupa pembinaan langsung pembuatan tepung pempek bagi mitra yang ditunjuk dan bersedia mengikuti kegiatan ini. Kegiatan dilakukan dengan lima tahap, yaitu: 1) seleksi calon peserta, 2) tatap muka penjelasan sekitar tepung pempek, 3) pembuatan tepung pempek dan 4) pembuatan pempek berbahan tepung pempek. Setelah 7 hari melakukan pembinaan dan pelatihan, dihasilkan peserta yang terampil secara teknis dan minat yang semakin besar terhadap pengembangan usaha pempek berupa tepung pempek. Kata kunci: Pempek; inovasi; usaha kecil. ABSTRACTPEMPEK-MAKING INNOVATIONS FOR SMALL BUSINESS PLAYERS OF PEMPEK IN PALEMBANG. Aiming to socialize and provide technical guidance and management of innovation in making pempek in the form of pempek flour for pempek entrepreneurs in Palembang city. Pempek is known as a traditional Palembang food made from a mixture of ground fish and tapioca flour and served with cuko pempek. Limited skilled human resources in making pempek, and limited shelf life of pempek, make it limited for pempek to be distributed to a wider area. In 2016 (Murtado) succeeded in creating pempek flour as an ingredient for making pempek which is made from ground fish and tapioca flour which is processed into a homogeneous dry mixture. With pempek flour, making pempek becomes easier and faster. The shelf life of pempek flour is up to two years, making handling and distribution easier and simpler. Activities in the form of direct guidance for making pempek flour for partners who are appointed and willing to participate in this activity. The activity was carried out in five stages, namely: 1) selection of prospective participants, 2) face-to-face explanation about pempek flour, 3) making pempek flour and 4) making pempek made from pempek flour. After 7 days of coaching and training, participants who were technically skilled and had greater interest in developing the pempek business in the form of pempek flour were produced. Keywords: Pempek; innovations; small business.
PENDAMPINGAN PEMBUATAN PAKAN DARI SAMPAH ORGANIK SECARA FERMENTASI KEPADA PETERNAK BEBEK DI KOTA BATU
Authors: Damat Damat , Zalizar Lili , Amroini Vritta 
Published: November 2020

ABSTRAKTempat pembuangan akhir (TPA) di Desa Tlekung, Kota Batu, telah memberikan manfaat bagi para peternak bebek di Desa tersebut. Masyarakat setempat dapat memanfaatkan sampah organik sebagai pakan bebek. Akan tetapi penggunaan sampah tersebut untuk pakan bebek menimbulkan masalah, yaitu timbulnya cemaran bau yang berasal dari sampah yang belum terfermentasi dengan sempurna, dan rata-rata tingkat kematian bebek cukup tinggi. Pengabdian kepada masyarakat ini dilakukan dengan tujuan untuk melakukan transfer teknologi fermentasi sampah organik sebagai pakan bebek. Kegiatan ini dilakukan dalam beberapa tahap, yaitu (i) survei lapangan, (ii) penyampaian materi teori disampaikan secara klasikal , (iii) penyampaian materi keterampilan dalam bentuk praktik/ demonstrasi pembuatan pakan organik secara fermentasi dan (iv) pendampingan kepada para peternak serta (v) monitoring dan evaluasi kegiatan. Hasil yang diperoleh sangat menggembirakan dan memberikan kepuasan tersendiri bagi peternak. Feses bebek yang diberi pakan hasil proses fermentasi sudah tidak bebau seperti semula, bulu bebek dapat tumbuh dengan baik, dan bebek yang dihasilkan tampak lebih gemuk dan lebih sehat dan memiliki pertambahan berat badan lebih baik dibandingkan dengan yang diberi pakan yang tidak diferementasi. Disamping itu, penggunaan pakan fermentasi dari sampah organik diketahui dapat menghemat biaya pakan sampai sebesar 60%, sehingga keuntungan peternak menjadi meningkat. Kata kunci: tempat pembuangan akhir; sampah organik; pakan organik. ABSTRACTThe landfill in Tlekung Village, Batu City, has provided benefits for duck farmers in the village. Local people can use organic waste as duck feed. However, the use of organic waste as duck feed causes some problems, that is odor contaminant from unfinished fermentation, also high average rate duck mortality. This community service program is carried out to transferring organic waste fermentation technology knowledge in feed duck production. Program consist of (i) field survey, (ii) classical theory sharing, (iii) skill sharing by practice/ demonstration of organic duck fermented feed production, (iv) assistance of duck farmers, and (v) monitoring and evaluation of program. The results obtained are very encouraging and give satisfaction to farmers. The duck feces which fed with fermentation organic production have no smell like before, duck feathers can grow well, also duck look healthier and have better weigh gain than duck which fed with unfermented fed. In addition, the use of fermented feed from organic waste is known to save feed cost up to 60%. So, it is increasing farmer’s profit. Keywords: organic waste; duck feed; fermented feed.