bluuebunny/crossref_metadata_2025_split huggingface dataset:
The role of the QF-PCR method in the detection of frequent aneuploidies
Authors: Бескоровайная Т.С. , Чухрова А.Л. , Черных В.Б. , Щагина О.А. , Поляков А.В. 
Published: February 2024

Анеуплоидия – это изменение числа гомологичных хромосом в диплоидном наборе в клетке. Наиболее распространенными анеуплоидиями, совместимыми с живорождением, являются анеуплоидии по хромосомам 13, 18, 21, X и Y. В настоящее время для диагностики частых анеуплоидий возможно использование быстрого, надежного и недорогого метода количественной флуоресцентной полимеразной цепной реакции (КФ-ПЦР). В результате исследования данным методом 1192 пренатальных и 195 постнатальных образцов в 15% случаев были выявлены различные хромосомные аномалии. Наиболее часто детектируемой анеуплоидией являлась трисомия по хромосоме 21 – 9,7%. Доля трисомии по хромосоме 18 составила 2,0%, трисомии по хромосоме 13 – 0,3%. Из аномалий половых хромосом обнаружены синдром Клайнфельтера в 1,1% и синдром Шерешевского-Тернера в 0,8% случаев. Отмечено уменьшение доли анеуплоидий, сопровождающихся тяжелыми врожденными пороками развития, среди постнатальных образцов. Высокий уровень гетерозиготности по STR-маркерам, использованным в исследовании, позволил получить результат во всех образцах по всем проанализированным хромосомам. Наиболее предпочтительно применять метод КФ-ПЦР для пренатального обследования на поздних сроках беременности при подозрении на частые анеуплоидии у плода, для подтверждения хромосомных аномалий при выявлении анеуплоидий методами неинвазивного пренатального тестирования и для постнатальной диагностики несбалансированных хромосомных аномалий.
Aneuploidy is a numerical chromosome abnormality in a diploid set in a cell. The most common aneuploidies observed in case of live birth are aneuploidies on chromosomes 13, 18, 21, X, and Y. At the present moment, it is possible to use a fast, reliable, and cheap method of quantitative fluorescent polymerase chain reaction (QF-PCR) for diagnosing frequent aneuploidies. The analysis of 1192 prenatal samples and 195 postnatal samples using this method detected various chromosomal abnormalities in 15% of cases. The most frequently detected aneuploidy was a trisomy 21 - 9.7%. The trisomy 18 rate was 2.0%, trisomy 13 - 0.3%. Among the anomalies of the sex chromosomes, Klinefelter syndrome was found in 1.1% and Turner syndrome in 0.8% of cases. There was a decrease in the proportion of aneuploidies accompanied by severe malformations in postnatal samples. The high level of the STR markers heterozygosity used in the study made it possible to obtain results in all samples for analyzed chromosomes. It is most preferable to use the QF-PCR method for prenatal examination of patients with suspected frequent fetal aneuploidies during late pregnancy or to confirm chromosomal abnormalities in case of aneuploidy detection by noninvasive prenatal test and for postnatal diagnosis of unbalanced chromosomal abnormalities.
Nucleotide changes in patients with familial exudative vitreoretinopathy in the Russian Federation
Authors: Катаргина Л.А. , Кадышев В.В. , Денисова Е.В. , Гераськина Е.А. , Ионова С.А. , Васильева Т.А. , Марахонов А.В. , Зинченко Р.А. 
Published: February 2024

Введение. Семейная экссудативная витреоретинопатия (СЭВР) – редкое генетически гетерогенное заболевание, характеризующееся вариабельными клиническими проявлениями. Ген FZD4 играет одну из главных ролей в ретинальном ангиогенезе, является наиболее изученным из ассоциированных с СЭВР. Молекулярно-генетическое обследование большой когорты пациентов с СЭВР в России не проводилось. Цель: изучить спектр вариантов нуклеотидной последовательности генов у пациентов с СЭВР в Российской Федерации, выявить и охарактеризовать клинико-генетические корреляции. Методы. В Национальном медицинском исследовательском центре глазных болезней имени Гельмгольца и ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова» обследованы 58 пациентов (31 девочка, 27 мальчиков) с СЭВР в возрасте от 3 недель до 17 лет. Всем пациентам проводилось углубленное офтальмологическое обследование. Молекулярно-генетическое обследование проведено методом прямого секвенирования по Сэнгеру и методами высокопроизводительного секвенирования (ВПС). Результаты. Варианты нуклеотидной последовательности гена FZD4 обнаружены у 10 пациентов (17,2%) из 9 неродственных семей, три варианта выявлены впервые. Внутригенные делеции и однонуклеотидные замены идентифицированы с одинаковой частотой. Особенностями пациентов с выявленными вариантами нуклеотидной последовательности гена FZD4 являются ранняя манифестация, асимметричное поражение, прогрессирующее течение и аутосомно-доминантное наследование.
Background. Familial exudative vitreoretinopathy (FEVR) is a rare hereditary genetically heterogeneous disease characterized by impaired retinal angiogenesis and variable clinical manifestations. The FZD4 gene is the most studied of those associated with FEVR. Molecular genetic examination of a large cohort of patients with FEVR in the Russian Federation was not carried out. Objective: to study the spectrum of variants of the nucleotide sequence of genes in patients with FEVR in the Russian Federation, to identify clinical and genetic correlations. Methods. 58 patients (31 girls, 27 boys) with FEVR aged from 3 weeks to 17 years were examined in an interdisciplinary manner at the Helmholtz National Research Centre of Eye disease and the Research Centre for Medical Genetics. All patients underwent an in-depth ophthalmological examination. The molecular genetic examination was carried out by direct Sanger sequencing and high-throughput sequencing methods. Results. Variants of the nucleotide sequence of the FZD4 gene were found in 10 patients (17.2%) from 9 unrelated families, of which 3 were identified for the first time. Single-nucleotide deletions and substitutions were identified with the same frequency. The features of patients with identified variants of the nucleotide sequence of the FZD4 gene are early manifestation, asymmetric lesion, progressive course and autosomal dominant inheritance.
The Challenges and Obstacles of Implementing Quality and Development Programs at Jordanian Business Companies (Field Study)
Authors: Kriem Alzubeidi Mohammad Ali , Alnsur Belal Hashim Humdallah 
Published: February 2024

Purpose: The study aims to clarify the challenges and obstacles (C&O) of implementing Quality and Development (Q&D) programs at Jordanian business institutions. Quality programs are the major driver of today’s business environment to accomplish business goals. The Q&D programs affect customers, organizations, and society at large.

Theoretical Framework: The study reviewed the literature in order to explain the concepts of quality, organization development and the relation between the two concepts. In addition, the study surveyed previous research for challenges and obstacles that hindered the implementation of quality and organization development programs.

Design/Methodology/Approach: The researchers used a descriptive statistical analysis to analyze the randomly collected data from a sample of various businesses in Amman Governance Area. A survey was prepared, tested and distributed to collect needed data. A total of 1275 surveys were used to solve the study problem regarding the influence of C&O on implementing Q&D at Jordanian business companies. The study uses the frequency statistics to analyze the collected data.

Findings: The analysis of the study found that the success of implementing quality programs depends heavily on recognizing the C&O that will hinder the implantation in order to overcome such difficulties. The study showed that the absence of motivation, commitment, concentration, communication, resources, information, and executive support are the major C&O hindering the success of implementing quality programs. Meanwhile, the study showed that companies who attained or seeking quality certification are in a better position to overcome the difficulties of implementing quality programs. Employees also play a major role in overcoming such difficulties depending on the training and development provided by their institutions.

Research, Practical & Social Implications: The study emphasized that quality programs are essential to the success of businesses in satisfying their customers, improving labor abilities and skills, increase their market share, and eventually increase profits. The study also emphasized the importance of leadership role in adapting, practicing and supporting quality programs in business institutions in order for such programs to succeed.

Originality/Value: The study originality as a first attempt to examine the difficulties of implementing quality programs at Jordanian business companies. The study contributes to better understand the challenges and obstacles that may hinder quality and development programs at Jordanian business companies.
Penerapan Prinsip Akustik Ruang Auditorium (Studi Kasus: Auditorium Gedung Kuliah Umum 1 Institut Teknologi Sumatera)
Authors: Gharata Verza Dillano , Satria Widi Dwi , Hidayat Rahmad , Calista Jinan Diva , Bastari Anisah Shafiyyah Muchlas 
Published: February 2024

Auditorium pada umumnya digunakan untuk mengadakan pertemuan, pertunjukan, dan kegiatan lainnya dengan jumlah tertentu. Salah satu faktor yang menunjang kenyamanan sebuah auditorium adalah bunyi (akustik). Pada ruang Auditorium Gedung Kuliah Umum 1 Institut Teknologi Sumatera (GKU 1 ITERA) akan dilakukan studi kasus untuk melihat kualitas suara yang ada di auditorium ini. Dalam kenyamanan suara pada sebuah auditorium, tentunya terdapat beberapa elemen yang harus diperhatikan seperti material yang dipilih serta mebel yang ada pada auditorium. Selain itu, tinggi dan panjang bangunan akan mempengaruhi kualitas akustik suatu ruangan dikarenakan persebaran suaranya harus merata. Hal tersebut juga dapat dipertimbangkan untuk peletakan posisi pengeras suara pada ruangan. Data penelitian diambil menggunakan metode pengamatan langsung. Pengamatan tersebut meliputi jenis material yang digunakan, pengukuran dimensi dan jarak menggunakan laser meter, elemen arsitektur di dalamnya isinya melingkupi elemen dinding, lantai, plafon, jendela, dan furnitur. Berdasarkan penelitian yang telah dilakukan, ada beberapa hal yang harus diperhatikan untuk meningkatkan kualitas suara pada auditorium, antara lain jumlah pengeras suara untuk peningkatan intensitas suara, penambahan bahan peredam agar tidak ada gema yang berlebihan, penempatan mebel yang harus dikoordinasikan lebih awal kepada pihak stakeholder yang terkait, dan juga perlu dilakukan simulasi akustik sehingga diperoleh waktu dengung yang sesuai standar untuk fungsi auditorium.
A field study on cyber stalking among university students
Authors: Aslan Mahi , Saddiki Hatice 
Published: February 2024

Internet and technology devices not only connected people around the world but also opened new ways of cybercrime including cyberstalking. Ease in accessibility of social media brought criminals to the online world and facilitated the opportunities to do crimes in the cyber world. As the internet and social media are becoming inseparable parts of human life, it is important to make these environments safe for everyone, especially youth who are driven by social media the most. Understanding the prevalence of cyberstalking will help in finding ways to combat it and also to make a safer cyber environment.
Aim: The study aims to examine the prevalence level of cyberstalking in university students between the ages of 18-30. This study will also assess the difference of cyber stalking prevalence between men and women.
Materials and Methods: A preliminary investigation was made on the prevalence level of cyber stalking in university students between the age of 18-30. Cyber ​​Obsessive Stalking Scale (Siber Obsesif Takip Ölçeği (SOTÖ)) was used to examine the stalking behaviours that people are exposed to while using electrical devices. While examining research participants, their age, gender, their anxiety about cyberstalking and if they had experienced cyberstalking or seen this behaviour in people around them were taken into account.
Conclusion: Developing technology has caused criminals to move to the online world. The severity of the situation will be brought to light by revealing the prevalence of victimization through studies. The prevalence level can direct researchers and technology developers to create safer online environments.
Earthquake, social disorder, violence
Authors: Demir Selmin Cansu , Ildırım Ezgi , Öztürkcan Yasemen 
Published: February 2024

Natural disasters appear as unexpected, traumatic events that break the normal flow of life; these events cause changes in the social structure in the region. There are two alternatives for this change. The first alternative is social unity, the other is social disorder. The purpose of the study is to explain the violent events that occurred after the earthquake in Kahramanmaraş on the 6th of February 2023, through the theory of social disorder. The literature on relevant subjects will be searched and the violent events displayed in the media will be explained in the context of social disorder theory in this study. The increased rates of violence and crime in the long-term period after disasters have been detected by the researchers and this situation has been explained with the theory of social disorder. The social disorder theory emphasizes that the increased stress burden causes an increase in domestic violence. The longitudinal studies that have been carried out on crime rates after the disaster determine that with the help of cooperation and social cooperation, there is a decrease in the crimes against property and violence and an increase in the cases of domestic violence. The disappearance of unaccompanied minors, child abuse, rapine, violence against women, and hate crimes against refugees are some of the criminal behaviors that are reflected in the media in the acute period and evaluated within the scope of this study. The Decrease of control due to social disorder and the absence of officials to provide security in the immediate aftermath of the earthquake explain that criminal behavior may occur in the acute period. The systematic, rapid, and effective implementation of the actions planned to prevent social disorder after natural disasters may be beneficial in preventing crime and violence in regions damaged by natural disasters.
Potensi Implementasi STEAM Berorientasi ESD dalam Pembelajaran Zat dan Perubahannya
Authors: Riyanto Agung , Nuroso Harto , Roshayanti Fenny 
Published: February 2024

STEAM merupakan pendekatan pembelajaran yang menekankan pada hubungan pengetahuan dan keterampilan Science, Technology, Engineering, Art and Mathematics (STEAM) untuk mengatasi masalah. Penelitian ini bertujuan untuk menganalisis potensi implementasi STEAM berorientasi Education for Sustainable Development (ESD) dalam pembelajaran zat dan perubahannya. Penelitian ini merupakan jenis penelitian kuantitatif deskriptif. Peneliti mendeskripsikan potensi implementasi STEAM berorientasi ESD dalam pembelajaran zat dan perubahannya. Responden penelitian ini adalah guru proyek IPAS di Kabupaten Jepara sebanyak 35 orang. Teknik pengumpulan data menggunakan observasi, angket dan wawancara. Hasil penelitian menunjukkan bahwa 88% guru telah mengenal pendekatan pembelajaran STEAM, 68% guru telah mengimplementasikan STEAM dalam pembelajaran zat dan perubahannya, 97% guru menyatakan bahwa implementasi pendekatan STEAM dapat meningkatkan pemahaman zat dan perubahannya, 91% guru menyatakan bahwa implementasi STEAM dalam pembelajaran zat dan perubahannya dapat meningkatkan kreativitas peserta didik, Sementara itu 74% guru menyatakan bahwa pembelajaran zat dan perubahannya berorientasi ESD mampu menanamkan nilai sikap, keterampilan dan kesadaran memperhatikan kehidupan untuk generasi berikutnya. Kesimpulan bahwa STEAM berorientasi ESD sangat berpotensi untuk diimplementasikan dalam pembelajaran zat dan perubahannya untuk meningkatkan kreativitas dan menumbuhkan kesadaran pembangunan berkelanjutan.
Pengembangan Alat Peraga Viskositas Menggunakan Sensor Mini Reed Switch Magnetic Berbasis Arduino Uno
Authors: Br Depari Sonia Surabina , Hamdani Dedi , Medriati Rosane 
Published: February 2024

Fisika yang bersifat abstrak membutuhkan suatu media pembelajaran konkrit atau nyata. Penelitian ini bertujuan untuk menghasilkan produk berupa alat peraga viskositas menggunakan sensor mini reed switch berbasis Arduino uno, dan menguji kelayakan alat peraga yang dikembangkan, serta untuk mendeskripsikan persepsi siswa terhadap alat peraga yang dikembangkan. Metode yang digunakan dalam penelitian ini adalah metode (Research and Development) dengan model pengembangan yang digunakan yaitu model ADDIE, yaitu Analysis (Analisis), Design (Desain), Development (Pengembangan), Implementation (Implementasi), dan Evaluation (Evaluasi). Sampel data yang digunakan dalam penelitian ini adalah 67 siswa di salah satu SMAN di Kota Bengkulu kelas XI MIPA. Validasi alat peraga dilakukan oleh 3 validator ahli yaitu dosen pendidikan fisika dan guru. Validasi produk yang dikembangkan ditinjau dari aspek kemudahan alat, keterkaitan alat dengan materi pembelajaran, ketahanan alat, estetika, komponen teknisi, keamanan bagi siswa. Hasil validasi media didapatkan dari penelitian ini menunjukkan alat peraga yang dikembangkan termasuk dalam kategori sangat layak dengan persentase rata-rata sebesar 91,85 % dan hasil validasi materi didapatkan dari penelitian ini menunjukkan rata-rata sebesar 75 % kategori layak, serta persepsi siswa terhadap alat peraga yang dikembangkan termasuk kategori sangat baik dengan persentase rata-rata sebesar 82,2 %. Dengan adanya produk ini siswa lebih mudah memahami konsep viskositas.Kata kunci: Alat Peraga, Arduino Uno, Viskositas
Keterampilan Berpikir Kritis Siswa SMK Pada Pembelajaran Projek IPAS Berorientasi ESD dan Pendekatan STEAM
Authors: Muntamah Muntamah , Roshayanti Fenny , Hayat Muhammad Syaipul 
Published: February 2024

Learning loss akibat Covid 19 perlu pemulihan bertahap demikian juga keterampilan berpikir kritis siswa di SMK. Penelitian ini bertujuan untuk mengetahui pengaruh pembelajaran Proyek IPAS berorientasi ESD dengan pendekatan STEAM terhadap peningkatan keterampilan berpikir kritis siswa SMK. Penelitian ini menggunakan pendekatan kuantitatif dengan desain penelitian yaitu Kuasi Eksperimen (Quasi Eksperimental Design). Desain yang digunakan adalah Non-equivalent Control Group Design. Instrumen yang digunakan berupa tes yang dikembangkan berdasarkan indikator keterampilan berpikir kritis. Uji statistic yang dilakukan berupa uji-t dan uji N-gain. Hasil penelitian menunjukkan hasil uji t didapatkan t-hitung > t-tabel ( 9,320 > 1,995) dengan signifikansi 0.00, sedangkan uji N-gain sebesar 73,75%, sehingga dapat disimpulkan bahwa terdapat peningkatan keterampilan berpikir kritis pada pembelajaran proyek IPAS berorientasi ESD dan pendekatan STEAM dengan kriteria cukup efektif. Hasil penelitian ini berkontribusi dalam implementasi proyek IPAS berorientai ESD dan pendekatan STEM. Hasil penelitian ini diharapkan dapat menjadi alternatif dalam upaya peningkatan keterampilan berpikir kritis khususnya siswa di SMK.
Dialogando sobre Explorações Matemáticas e Literatura Infantil com crianças na Educação Infantil
Authors: Santos Jonatha Daniel dos , Ribeiro Sthefane Wendy Costa 
Published: February 2024

O presente texto é gerado a partir de uma Pesquisa de Iniciação Cientifica vinculado ao Curso de Pedagogia, na Universidade Federal do Amazonas, da qual tem como finalidade compreender como as explorações matemáticas podem ser desenvolvidas a partir da Literatura Infantil junto às crianças que vivenciam a Educação Infantil, na cidade de Manaus. Por meio da literatura, é possível estabelecer caminhos pedagógicos para que as explorações matemáticas sejam ambientadas nesse universo, além de contribuir para a constituição da linguagem matemática. O estudo apresentado está alinhado com os princípios qualitativos de se fazer pesquisa no campo educacional. Como resultados provisórios, a linguagem matemática quando apoiada à Literatura Infantil consolida as inúmeras possibilidades lúdicas que o texto pode nos trazer, nos levando a lugares que nunca estivemos e apresentando histórias atrativas e curiosas.
Pengaruh Pemberian Ekstrak Daun Kelor terhadap Kenaikan Kadar Hemoglobin pada Ibu Hamil dengan Anemia
Authors: Triani Yuyun , Rosyida Zulfa Mahdiatur , Winarni Winarni 
Published: February 2024

Latar Belakang: Angka kejadian ibu hamil di Indonesia masih tergolong tinggi, yaitu sebanyak 48,9%. Kondisi ini menunjukkan bahwa anemia di Indonesia menandakan angka yang mendekati masalah kesehatan masyarakat berat (severe public health problem) dengan batas prevalensi anemia yang lebih dari 40%. Sedangkan angka kejadian anemia pada ibu hamil di Kabupaten Sukoharjo pada tahun 2022 ditemukan sebanyak 5,6%. Tujuan: Tujuan penelitian untuk mengetahui pengaruh pemberian ekstrak daun kelor terhadap peningkatan kadar hemoglobin pada ibu hamil di Puskesmas Grogol Sukoharjo. Metodelogi: Penelitian kuantitatif, desain quasi eksperimen dengan rancangan pre-post test control group design. Penelitian dilakukan pada bulan Juli 2023. Teknik sampling yang digunakan yaitu purposive sampling. Sampel yang digunakan sebanyak 20 orang ibu hamil dengan anemia. Kemudian dikelompokkan menjadi 2 kelompok, satu kelompok dengan 10 orang ibu hamil dengan anemia yang diberikan zat besi dan ekstrak daun kelor, satu kelompok lagi dengan 10 orang yang hanya diberikan zat besi saja. Analisa data menggunakan Paired Sampel t Test. Hasil: Hasil penelitian didapatkan terdapat perbedaan signifikan pemberian ekstrak daun kelor dengan hemoglobin (P value <0,001). Kesimpulan: pemberian ekstrak daun kelor berpengaruh terhadap peningkatan kadar hemoglobin pada ibu hamil.
FASHION ACCESSORIES FROM ANKARA WAX PRINTS IN NIGERIA
Authors: Adeoti A. A. , Kalilu R. O. R. 
Published: February 2024

The purpose of this study is to provide preliminary art history of the accessories made from Ankara fabrics and make a scholastic record of the production of the accessories with the use of Ankara wax print fabrics in Nigeria. The ephemerality nature of fabrics with creativity, innovation and the dearth of literary materials in this area of art make the study to be expedient.
Methodology: this study adopts both descriptive and explanatory research designs to carry out the research with qualitative method in analyzing the data. The sources of data are from both primary and secondary sources making the data to be concise and effective.
Result: the study identified that the cotton texture and colourful designs make the accessories to be easily produced without stress. Therefore, many accessories for fashion are produced daily showing African nature in day-to-day dressing.
Scientific novelty: the study discovered the usefulness of African fabrics and wears which could be publicize rather than the imported fabrics and wears being widely used in Nigeria which will be of great value in Nigerian fashion system.
Practical significance: the findings of this research reveal that Ankara wax prints transcends sewing the fabric into dress wears. Inspirations are increasing daily, and the fabric is becoming more popular in the market world. With the technology in place and the taste of the consumers dictate the kind of styles and accessories to be created for the users.