bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1
Authors: Zahoor Muhammad Yasir , Cheema Huma Arshad , Ijaz Sadaqat , Anjum Muhammad Nadeem , Ramzan Khushnooda , Bhinder Munir Ahmad 
Published: September 2019

Abstract

Background
Mucopolysaccharidosis type 1 (MPS1) is a rare debilitating multisystem lysosomal disorder resulting due to the deficiency of α-L-iduronidase enzyme (IDUA), caused by recessive mutations in the IDUA gene. Lack or improper amount of the IDUA enzyme results in the improper metabolism of mucopolysaccharides or glycosaminoglycans (GAGs). These large sugar molecules accumulate in lysosomes within cells leading to different systemic complications. The estimated global incidence of MPS1 is 1:100,000 live births for the Hurler and 1:800,000 for the Scheie phenotypes.

Methods
Thirteen MPS1-affected children from 12 unrelated cohorts were enrolled. All coding and flanking regions of the IDUA gene were sequenced. Bioinformatics tools were used for data analysis and protein prediction for clinical correlations.

Results
Six IDUA gene mutations were mapped co-segregating with the recessive pattern of inheritance including a novel variant. A novel missense variant c.908T > C (p.L303P) was mapped in two affected siblings in a cohort in the homozygous form. The variant c.1469T > C (p.L490P) was mapped in five unrelated patients and c.784delC (p.H262Tfs*55) was mapped in three unrelated patients, while mutations c.1598C > G (p.P533R), c.314G > A (p.R105Q) and c.1277ins9 (p.[A394-L395-L396]) were mapped in a single patient each.

Conclusions
Multisystem disorders and a wide range of clinical presentation impede the evaluation of patients as well as make it difficult to differentiate between different phenotypes of MPS. Early and accurate diagnosis is crucial for the disease management and implementation of an expanded new-born genetic screening program for inborn errors of metabolism including MPS1. We recommend c.784delC (p.H262Tfs*55) and c.1469T > C (p.L490P) as first-line genetic markers for the molecular diagnosis of MPS1 in Pakistan.
Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10
Authors: Kadoya Takumi , Sakakibara Azumi , Kitayama Kana , Yamada Yuki , Higuchi Shinji , Kawakita Rie , Kawasaki Yuki , Fujino Mitsuhiro , Murakami Yosuke , Shimura Masaru , Murayama Kei , Ohtake Akira , Okazaki Yasushi , Koga Yasutoshi , Yorifuji Tohru 
Published: September 2019

Abstract
Mitochondrial acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the common causes of respiratory chain complex I deficiency, which is characterized by cardiomyopathy, lactic acidemia, and muscle weakness. Infantile cardiomyopathy is the most common phenotype and is usually lethal by the age of 5 years. Riboflavin treatment is known to be effective in ~65% of the patients; however, the remaining are unresponsive to riboflavin and are in need of additional treatment measures. In this report, we describe a patient with ACAD9 deficiency who developed progressive cardiomyopathy at 8 months of age. As the patient’s left ventricular ejection fraction (LVEF) kept decreasing to 45.4% at 1 year 8 months, sodium pyruvate treatment was introduced together with a beta-blocker and coenzyme Q10. This resulted in a steady improvement, with full and sustained normalization of cardiac function without riboflavin. The therapy, therefore, might be a useful addition for the treatment of ACAD9 deficiency.
Association between MTHFR genetic polymorphism and Parkinson’s disease susceptibility: a meta-analysis
Authors: Diao Hong-Mei , Song Zheng-Feng , Xu Hai-Dong 
Published: September 2019

AbstractFolate metabolism plays quite a critical role in Parkinson’s disease (PD). Previous published research works have studied the link existing between the folate metabolism genetic polymorphisms and PD susceptibility; nevertheless, the results continue having controversies and inconclusiveness. Accordingly, we carried out the present meta-analysis for the assessment of the potential link between the folate metabolism genetic polymorphisms and the susceptibility to PD. In addition we carried out a literature search in the PubMed, EMBASE, Cochrane Library, and WanFang databases till November 10, 2018. The odds ratios (ORs) with corresponding 95% credible interval (95%CI) were put to use for evaluating the strength of the association of three folate metabolism genetic polymorphism ( C677T, A1298C, and A2756G) with the susceptibility to PD. Each statistical analysis was carried out with the use of STATA 15.0. An aggregate of twenty-one case-control investigations were retrieved, which involved 3,944 PD patients and 4,412 controls. We discovered the existence of no substantial link between the C677T and A1298C polymorphism and PD risk in any genetic framework comparisons. With regard to A2756G polymorphism, we discovered that there was an association between the A2756G genetic polymorphism and an augmented threat of PD in the co-dominant genetic framework (GG vs. AA: OR=1.86, 95%CI=1.02-3.37, P=0.042) and the recessive genetic model (GG vs. GA+AA: OR=1.90, 95%CI=1.06-3.41, P=0.031). To summarize, our research work indicates that the A2756G polymorphism of the folate metabolism gene had an association with an augmented threat of PD. Also, A1298C polymorphisms is unlikely to significantly contribute towards the susceptibility to PD. Further large-scale case-control studies are still required.
Echocardiography evaluation of left ventricular diastolic function in elderly women with metabolic syndrome
Authors: Chung Jin-Wook , Seo Dong-il , Park Yoonjung , So Wi-Young 
Published: September 2019

Abstract
To date, we found no published reports on the effects of metabolic syndrome and physical activity levels on left ventricular (LV) diastolic function in elderly women aged over 65 years. Our study involved patients with echocardiographically normal LV ejection fractions (≥50%) and normal LV dilatation diameters (≤55 mm). Elderly women with metabolic syndrome (n = 20) and healthy elderly women (n = 17) were selected and assessed with the National Cholesterol Education Program Adult Treatment Panel III, a metabolic syndrome diagnostic instrument. We compared the LV function indices and physical activity levels according to the presence (metabolic syndrome group) or absence (normal group) of metabolic syndrome. The LV end-systolic (LVES) diameter was significantly smaller (p = 0.037) and LV outflow tract (LVOT) diameter was significantly larger (p = 0.030) in the metabolic syndrome group. The left arterial dimension at end-systole (p = 0.024), left arterial volume (LAV) index (p = 0.015), early peak mitral inflow velocity (E, p = 0.031), early diastolic mitral annulus motion velocity (Eʹ-septal, p = 0.044), (Eʹ-lateral, p = 0.008), and E/late peak mitral inflow velocity ratio (E/A, p = 0.006) values were significantly lower and physical activity levels (p = 0.034) were significantly higher in the metabolic syndrome group. These results indicated that the metabolic syndrome group had relatively high physical activity levels compared to the normal group, which may have positively affected the LVES, LVOT, left atrial volume index, E, Eʹ, and E/A values.
Artificial Intelligence in Basic and Clinical Neuroscience: Opportunities and Ethical Challenges
Authors: Kellmeyer Philipp 
Published: September 2019

Abstract
The analysis of large amounts of personal data with artificial neural networks for deep learning is the driving technology behind new artificial intelligence (AI) systems for all areas in science and technology. These AI methods have evolved from applications in computer vision, the automated analysis of images, and now include frameworks and methods for analyzing multimodal datasets that combine data from many different source, including biomedical devices, smartphones and common user behavior in cyberspace.
For neuroscience, these widening streams of personal data and machine learning methods provide many opportunities for basic data-driven research as well as for developing new tools for diagnostic, predictive and therapeutic applications for disorders of the nervous system. The increasing automation and autonomy of AI systems, however, also creates substantial ethical challenges for basic research and medical applications. Here, scientific and medical opportunities as well ethical challenges are summarized and discussed.
PEMAKAIAN FONOLOGI DAN LEKSIKON BAHASA JAWA: STUDI SOSIODIALEKTOLOGI DI KABUPATEN BATANG
Authors: Hastuti Anisa Puji , Zulaeha Ida , Baehaqie Imam 
Published: September 2019

Penelitian ini bertujuan untuk mendeskripsikan variasi fonologi berdasarkan pekerjaan, pendidikan, dan usia; variasi leksikon berdasarkan pekerjaan, pendidikan, dan usia; serta kekhasan bahasa Jawa Batang. Penelitian ini menggunakan pendekatan sosiodialektologi dan pendekatan deskriptif kualitatif. Data dalam penelitian ini dijaring dengan menggunakan metode simak dan cakap. Analisis data digunakan metode padan fonetis artikulatoris. Hasil penelitian menunjukkan sebagai berikut. Pertama, variasi fonologi berdasarkan pekerjaan, pendidikan, dan usia meliputi (1) korespondensi vokal, (2) korespondensi konsonan, (3) variasi vokal, variasi konsonan, (4) penambahan bunyi, dan (5) pengurangan bunyi. Kedua, variasi leksikon berdasarkan pekerjaan, pendidikan, dan usia meliputi onomasiologis dan semasiologis. Ketiga, kekhasan bahasa Jawa Batang meliputi kekhasan fonologi dan leksikon.
The aim of this study describe phonology variation based job, education, and age; lexicon variation based job, education, and age; and characteristics of Batang Java language. This study uses sosiodialectology approach and qualitative approach. Data was captured using hear and speak methods. Analysis of the data using articulatoric phonetic unified methods. The result showed as follows. First, phonology variation based job, education, and age includes (1) vocal correspondence, (2) consonant correspondence, (3) vocal variation, (4) consonant variation, (4) increment of sound, and (5) decrement of sound. Second, lexicon variation based job, education, and age includes onomasiologis and semasiologis. Thrid, characteristics of Batang Java language includes phonology characteristics and lexicon characteristics
Bentuk Etika Transendensi dalam Cerita Rakyat di Kabupaten Tegal
Authors: Lestari Sri Ayu , Qomariyah U’um , Sumartini Sumartini 
Published: September 2019

Transendensi merupakan salah satu aspek yang ada dalam sastra profetik. Sastra profetik merupakan sastra yang menekankan pada sastra keagamaan yang mendalam sebagai wahana bertemunya dimensi sosial dan transendensi yang ada dalam cerita rakyat. Cerita rakyat mengandung bentuk, nilai dan etika transendensi. Tulisan ini mengupas tentang bentuk etika transendensi. Tujuan penelitian ini untuk mengetahui bentuk dan faktor-faktor yang melatarbelakangi terjadinya etika transendensi. Adapun bentuk etika transendensi adalah raja’, qonaah, syukur, ikhlas, khauf, melakukan upaya mendekatkan diri pada Tuhan (tirakat, taat beribadah), mengakui adanya kekuatan supranatural, mengaitkan perilaku, tindakan, dan kejadian dengan ajaran kitab suci. Adapun faktor yang melatarbelakangi adalah faktor internal yang berhubungan dengan kejiwaan atau kepribadian tokoh. Sementara faktor eksternal yang ada meliputi keluarga, lingkungan, pendidikan, dan kondisi sosial kultural.
Transcendence is one of the aspects of prophetic literature. Prophetic literature is a literature that emphasizes deep religious literature as a means of the social dimensions and transcendence meeting that exist in folklore. Folklore contains transcendental forms, values, and ethics. This paper explores the form of transcendental ethics and the factors behind the formation of transcendental ethics. The purpose of this research is to determine the form and factors that underlie the occurrence of transcendental ethics. The forms of transcendent ethics are raja', qonaah, gratitude, sincere, khauf, making efforts to draw closer to God (tirakat, obedient worship), acknowledge the existence of supernatural powers, linking behavior, actions, and events with the teachings of scripture. The underlying factors are internal factors related to the psychological or personality of the figure, while the external factors that include family, environment, education, and cultural social conditions.
Tindak Tutur Ilokusi di Pondok Modern Selamat Kendal
Authors: Prahastiwi Arunika Harum , Haryadi Haryadi , Baehaqie Imam 
Published: September 2019

Tujuan penelitian ini adalah mendiskripsikan jenis dan mengidentifikasi fungsi tindak tutur ilokusi yang diucapkan warga pondok yang ada di pondok. Pendekatan yang digunakan ada dua, pendekatan teoretis dan pendekatan metodologis. Data dalam penelitian berupa penggalan wacana percakapan saat melaksanakan kegiatan sehari-hari. Hasil penelitian ini berbagai jenis dan fungsi tindak ilokusi yaitu (1) jenis tuturan ilokusi dalam tuturan warga pondok terdiri atas lima macam yaitu tuturan ilokusi asertif yaitu mengeluh, menyarankan, mengakui, dan menyatakan; tuturan ilokusi direktif yaitu menyuruh, mengajak, dan memesan; tuturan ilokusi ekspresif yaitu memberi selamat, berterima kasih, dan memuji; tuturan ilokusi deklarsi yaitu menghukum, berpasrah, dan mengizinkan; tuturan ilokusi komisif yaitu berjanji, dan menawarkan.;(2) fungsi dari tindak tutur ilokusi terdiri atas empat macam yaitu fungsi bersaing memerintah, meminta, dan menuntut; fungsi menyenangkan mengajak, menyapa, mengucapkan, terima kasih, dan memberi selamat, fungsi bekerja sama melaporkan, dan mengumumkan; fungsi bertentangan yaitu memarahi.
The purpose of this research is to describe the type and identify the function of illocutionary speech acts are spoken by female students in a modern cottage survived Kendal. The approach used in this study there are two theoretical approaches and methodological approaches. The data in this study a discourse fragment of conversation when carrying out daily activities. The results of this study show the different types and functions of illocutionary acts: (1) type speech illocutionary in residents of the cottage. speech consists of five kinds of assertive illocutionary speech that complain, suggest, recognize, and states. Directive illocutionary speech that is sent, inviting, and ordering. Illocutionary expressive speech that congratulated, thanked and praised him. Illocutionary speech deklarsi ie punish, surrender and allow. Illocutionary speech commissive that promise, hang out and menawaarkan; (2) the function of illocutionary speech act consists of four kinds of functions compete among others ruled, asking and demanding. The function fun among others invited, say hello, say, thank you, and congratulations. Functions work together among others, report, and announced. Conflicting functions is scolding
ROMANTIKA KESEDERHANAAN DALAM NOVEL HUJAN BULAN JUNI KARYA SAPARDI DJOKO DAMONO: KAJIAN STILISTIKA
Authors: Aliefta Dhea Rizka Noor , Mulyono Mulyono , IRP Maharani Intan Andalas 
Published: September 2019

Sapardi adalah seorang sastrawan yang memiliki nilai keromantisan yang tinggi. Dalam novelnya yang berjudul Hujan Bulan Juni, menggambarkan romantika kesederhanaan mengenai konflik liku-liku kehidupan percintaan yang dialami kedua tokoh yang dibantu tokoh-tokoh lainnya, konflik tersebut dapat diteliti menggunakan gaya bahasa melalui pendekatan stilistika dengan metode deskriptif kualitatif. Penelitian ini bertujuan untuk mengetahui romantika kesederhanaan melalui gaya bahasa dalam novel tersebut serta untuk mengetahui fungsi gaya bahasa yang mengungkapkan keseluruhan maknanya. Novel Hujan Bulan Juni merupakan novel serius, karena menggambarkan perjalanan kehidupan dan percintaan tokoh. Merupakan novel romansa, karena pengarang menggunakan bahasa-bahasa kiasan yang berbentuk narasi bersifat puitis. Gaya bahasa yang mengungkapkan romantika kesederhanaan terdapat empat gaya kalimat, empat gaya kata, bahasa figuratif dengan delapan permajasan, idiom, dan peribahasa, tiga citraan, dan sisipan sajak berfungsi sebagai penekanan antar tokoh, mewujudkan peristiwa, menciptakan makna, menghidupkan objek, suasana, dan alur.

Sapardi is a person who has high of romace value. In his novel, Hujan Bulan Juni, describe the romance of the simplicity of the conflict between the twists and turns of the love life experienced by the two figures assisted by other figures, the conflict can be examined using the style of language through a stylistic appoarch with qualitative descriptive method. This study aims to determine the romance of simplicity through the style of language in the novel as well as to know the function of language style the expresses the whole meaning. Hujan Bulan Juni novel is a serious novel, because it describes of journey of life and romance of a character. It is a romance novel, because the author uses figurative language in the form of narrative is poetic. The style of language that reveals romantic simplicity lies in four sentence styles, four word styles, figurative languages with eight rhimes, idioms, and proverbs, three images, and poet inserts functioning as intercultural emphases, realizing events, creating meaning, animating objects, plot.
KONTRIBUSI PEREMPUAN MEMPERTAHANKAN KEMERDEKAAN INDONESIA DALAM NOVEL BURUNG-BURUNG MANYAR: KAJIAN KRITIK SASTRA FEMINIS
Authors: Sumartini Sumartini , IRP Maharani Intan Andalas , Laraswati Sara 
Published: September 2019

Persoalan perempuan selalu menarik perhatian masyarakat. Novel Burung-Burung Manyar menceritakan tokoh perempuan yang bernama Larasati (Atik). Ia anak bangsawan yang menjadi perempuan modern dan mengabdikan hidupnya untuk bangsa dan negara Indonesia. Permasalahan dalam kajian ini adalah (1) bagaimanakah kontribusi perempuan mempertahankan kemerdekaan Indonesia, (2) faktor apa saja yang melatarbelakangi dialami tokoh perempuan dalam mempertahankan kemerdekaan Indonesia? Metode yang digunakan dalam kajian ini adalah metode deskriptif kualitatif. Hasil kajian ini, pertama, dalam hal mewujudkan dan mempertahankan bangsa, para perempuan mempunyai kontribusi atau sumbangan yang cukup besar. Kontribusi tersebut tidak hanya berwujud kontribusi fisik tetapi juga nonfisik. Selain itu, kontribusi yang diberikan kaum perempuan berupa kontribusi materi dan nonmateri. Kedua, ada dua faktor yang melatarbelakangi para perempuan berkontribusi dalam memperjuangkan dan mempertahankan kemerdekaan, yaitu: (1) jiwa nasionalisme, (2) cinta tanah air.

Women's issues always attract people's attention. Novel Manyar tells a female character named Larasati (Atik). He was a nobleman who became a modern woman and devoted his life to the nation and state of Indonesia. The problems in this study are (1) how is the contribution of women maintaining Indonesia's independence, (2) what factors are behind the experience of female leaders in maintaining Indonesia's independence? The method used in this study is a qualitative descriptive method. The results of this study, first, in terms of realizing and maintaining the nation, women have a considerable contribution or contribution. The contribution is not only physical but also non-physical. In addition, the contribution made by women in the form of material and nonmaterial contributions. Second, there are two factors underlying the women contributing in fighting for and maintaining independence, namely: (1) the spirit of nationalism, (2) the love of the homeland.
Evaluation of Building Maintenance Quality in Ampel Mosque Surabaya
Authors: Sedayu Agung 
Published: September 2019

The Ampel Mosque Surabaya East Java Indonesia is a historic mosque that became one of the centers of the spread of Islam in Java by Sunan Ampel. The mosque is a historic site to get attention in care and maintenance on the physical components of the building to prevent the occurrence of damage. This study aims to evaluate the quality of maintenance of Ampel Surabaya mosque building. This study considers social-culture aspects and technical aspects as an instrument to support building maintenance and reliability enhancement. The quality of the maintenance affects the reliability of mosque building construction. The evaluation is done by considering the user's perception of the facility to worship in the mosque of Ampel. The method used is Structural Equation Modeling (SEM). The result of the research shows four variables that make up the model namely: Structural Component, Architectural Component as exogenous manifest variable 2, Quality Maintenance, and Construction Reliability. Relationships between variables indicate a strong level of significance. The path diagram model obtained is explained that the variability of Maintenance Quality is explained by Structural Component and Architectural Component of 81.6%, while Construction Reliability can be explained by Structural Component, Maintenance Quality, and Architectural Component variability of 87.2%. It can be concluded that the influence relationship in the overall model is positive. Ampel mosque management can perform maintenance efforts of mosque building components based on evaluation results and models to calculate the quality of maintenance and reliability of mosque building construction.
Critical, Logical & Creative Thinking in A Reflective Classroom Practices
Authors: Wijirahayu Suciana , Priyatmoko Hendro , Hadianti Siti 
Published: September 2019

This study examines the application of higher order thinking in a class of Word Formation in Modern English course in Faculty of Classical and Modern Philology, Sofia University. The course description, classroom activities and assessment are presented to give evidence on how high order thinking was applied by the lecturers. The experience of taking courses in Language and Culture program, Department of English and American Studies, implemented in the four language skills from the courses of Varieties of Spoken English and The Principle of Literary Analysis are also elaborated. In the English classrooms, the students were asked to apply higher order thinking skills in order to improve their English mastery. Deep understanding about the subject matters and being able to construct pedagogical content knowledge to develop higher-order thinking skills of the students were shown in the classroom practices in this study.
The Use of Gallery Walk in Teaching Descriptive Text to Promote Higher Order Thinking Skills for 7th Graders
Authors: Khasanah Uswatun , Purwati Oikurema , Munir Ahmad 
Published: September 2019

The purpose of this research was to analyze the use of Gallery Walk in teaching reading descriptive text and how it promoted higher order thinking skills for 7th graders. The subject of the research was the teacher of Junior High School in Surabaya. In finding the sample of the research, the participant was the 7th grade students of Junior High School. The data of the research was the teacher and to gain the detail data and information, the researcher gathered the data by using two techniques, they were observation and documentation in four meetings in the classroom. The teacher used Gallery Walk method in teaching descriptive text and to promote the students’ higher order thinking skills the teacher implemented the step of the lesson plan, such as Grouping, distributing material, students’ presentation, sharing knowledge, collective reflection and conclusion. The result of the data showed that the use of Gallery Walk in teaching reading descriptive text can promote higher order thinking skills of 7th graders, especially in level C3 to C5 (Applying, Analyzing and Evaluating). Connected to the result, the writer suggests teachers to practice teaching using this method to promote students’ higher order thinking skills as mentioned in k13 Curriculum.