bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic testing for choroideremia
Authors: Abeshi Andi , Zulian Alessandra , Beccari Tommaso , Dundar Munis , Viola Francesco , Garoli Elena , Colombo Leonardo , Bertelli Matteo 
Published: November 2017

Abstract
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for choroideremia (CHM). CHM is an inherited X-linked recessive disorder associated with variations in the CHM gene. The overall prevalence of CHM varies from 1 in 50 000 to 1 in 100 000. Clinical diagnosis is based on clinical findings, ophthalmological examination, visual field, fundus autofluorescence, optical coherence tomography and electroretinography. The genetic test is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.
Genetic testing for cone rod dystrophies
Authors: Abeshi Andi , Zulian Alessandra , Beccari Tommaso , Dundar Munis , Ziccardi Lucia , Bertelli Matteo 
Published: November 2017

Abstract
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for cone rod dystrophies (CORDs). CORDs are caused by variations in the ABCA4, ADAM9, AIPL1, C8orf37, CACNA1F, CACNA2D4, CDHR1, CNGA3, CRX, DRAM2, GUCA1A, GUCY2D, HRG4, KCNV2, PDE6C, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RIMS1, RPGRIP1, RPGR SEMA4A, TTLL5 genes, with an overall prevalence of 1 per 40 000. Most genes have autosomal recessive inheritance; the others have autosomal dominant or X-linked recessive transmission. Clinical diagnosis is based on clinical findings, color vision testing, ophthalmological examination and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.
Genetic testing for gyrate atrophy of the choroid and retina
Authors: Abeshi Andi , Fanelli Francesca , Beccari Tommaso , Dundar Munis , Benedetto Falsini , Bertelli Matteo 
Published: November 2017

Abstract
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for gyrate atrophy of the choroid and retina (GACR). GACR is inherited in an autosomal recessive manner, and has a prevalence of 1/50000 in Finland. In the international literature there are approximately 200 biochemically confirmed cases. GACR is caused by mutations in the OAT gene. Clinical diagnosis involves ophthalmological examination, electrophysiological testing (electroretinography - ERG), coherence tomography and assay of ornithine levels in body fluids. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.
Genetic testing for infantile nystagmus
Authors: Abeshi Andi , Coppola Pamela , Beccari Tommaso , Dundar Munis , Colombo Leonardo , Bertelli Matteo 
Published: November 2017

Abstract
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for infantile nystagmus (IN). Forms of IN associated with variations in CACNA1F, FRMD7 and GPR143 genes have X-linked recessive inheritance, whereas variations in SLC38A8, TYR and TYRP1 genes have an autosomal recessive inheritance and variations in COL11A1, CRYBA1 and PAX6 genes have an autosomal dominant inheritance. The prevalence of all forms of IN is estimated to be 1 in 5000. Clinical diagnosis is based on clinical findings, age of onset, family history, ophthalmological examination, fundoscopy, electroretinography, optical coherence tomography, slit lamp examination and visual evoked potentials. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.
Genetic testing for Norrie disease
Authors: Abeshi Andi , Marinelli Carla , Beccari Tommaso , Dundar Munis , Ziccardi Lucia , Bertelli Matteo 
Published: November 2017

Abstract
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Norrie disease. The disease is caused by variations in the NDP gene. Its prevalence is currently unknown. Inheritance is X-linked recessive. Clinical diagnosis is based on clinical findings, color vision testing, optical coherence tomography, ophthalmological examination and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.
Genetic testing for pattern dystrophies
Authors: Abeshi Andi , Coppola Pamela , Beccari Tommaso , Dundar Munis , Di Nicola Maura , Viola Francesco , Colombo Leonardo , Bertelli Matteo 
Published: November 2017

Abstract
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for pattern dystrophies. Pattern dystrophies are mostly inherited in an autosomal dominant manner (autosomal recessive transmission is rare). The overall prevalence is currently unknown. Pattern dystrophies are caused by variations in the BEST1, IMPG1, IMPG2, OTX2, PRPH2 and CTNNA1 genes. Clinical diagnosis is based on clinical findings, ophthalmological examination, optical coherence tomography, electrooculography and electroretinography. The genetic test is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.
Genetic testing for retinitis punctata albescens/fundus albipunctatus
Authors: Abeshi Andi , Coppola Pamela , Beccari Tommaso , Dundar Munis , D’Esposito Fabiana , Bertelli Matteo 
Published: November 2017

Abstract
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for retinitis punctata albescens/fundus albipunctatus (RPA/FA). RPA and FA are reported to have autosomal dominant or autosomal recessive inheritance and are associated with variations in the PRPH2, RHO, RLBP1 and RDH5 genes. There is insufficient data to establish their prevalence. Clinical diagnosis is based on clinical findings, ophthalmological examination, optical coherence tomography, visual field testing and undetectable or severely reduced electroretinogram amplitudes. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.
Madres privadas de libertad (y de las Asignaciones Familiares). Resistencias burocráticas y actuación judicial
Authors: Arcidiácono Pilar 
Published: November 2017

Las madres que conviven con sus hijos menores de cuatro años en contexto de encierro no acceden a cobrar Asignaciones Familiares, situación de exclusión que llegó a plantearse en sede judicial y tuvo sentencia favorable. Esto sucede en Argentina en paralelo a la masificación del sistema de Asignaciones Familiares.
Este artículo retomará este caso judicial para identificar y recuperar actores, temas y nudos problemáticos que atraviesan la temática de las Asignaciones Familiares, tema central en la agenda de la política social.
Se busca dar respuesta a los siguientes interrogantes: ¿qué actores, en qué contextos y a través de qué prácticas logran sostener esta exclusión?; ¿qué razones argumentan y por medio de qué mecanismos institucionales se concretan estas restricciones?
Para ello, se toma distancia de abordajes de políticas públicas que suponen coherencia, racionalidades lineales o visiones totalizadoras sobre el Estado y los gobiernos. Este tipo de acercamientos no permitiría comprender el hecho de que las restricciones vinculadas con el acceso a las Asignaciones son contemporáneas a la misma gestión de gobierno que amplío el Sistema de Asignaciones y que siguen vigente durante la nueva administración de Cambiemos que continuo extendiendo las prestaciones.
PEMERTAHANAN BAHASA IBU MELALUI GRUP WhatsApp
Authors: Sahril Sahril 
Published: November 2017

anguage preservation could occur if a community collectively used the language wholly. The use of mother language in communities such as in Cendekiawan Batubara WhatsApp group truly supported the effort to preserve the existence of Melayu Batubara language from extinction. This study focused on some archaic vocabularies in Melayu Batubara language that are no longer used in Melayu Batubara communities themselves. This study aimed to describe the language preservation of mother language which indirectly has been carried out by Cendekiawan Batubara WhatsApp group. ABSTRAK Pemertahanan bahasa dapat terjadi bila suatu komunitas secara kolektif menggunakan bahasa itu sepenuhnya. Penggunaan bahasa ibu yang terjadi pada komunitas di grup WhatsApp Cendekiawan Batubara sangat mendukung upaya mempertahankan eksistensi bahasa ibu dari kepunahan bahasa Melayu dialek Batubara. Kajian ini terfokus pada beberapa kosakata arkais bahasa Melayu dialek Batubara yang tidak lagi dipakai dalam komunikasi etnis Melayu Batubara itu sendiri. Kajian ini berusaha menemukan deskripsi pemertahanan bahasa ibu yang secara tidak langsung telah dilakukan oleh komunitas di grup WhatsApp Cendekiawan Batubara.
TINDAK TUTUR MEMINTA MAAF SECARA SAMUDANA TERSELUBUNG DALAM BAHASA JAWA
Authors: Sri Maruti Endang 
Published: November 2017

pology is typically done when someone made a mistidake. In Javanese speech community, apologized tend declared first even though it is spoken or done is not necessarily wrong. This research focus on form of apology speech acts in the Javanese community in the Beringin Village, District Lakarsantri, Surabaya. To explain the focus, the researcher used descriptive-qualitative with ethnopragmtic design. Data are collected from 46 subjects by observation and indepth interviews. Data are analizd using Miles and Huberman’s flow model covering three steps: reduction, display, and verivication/concluison. The results showed that the form says to apologize distinguished by mode and components. ABSTRAK Permintaan maaf lazimnya dilakukan seseorang jika melakukan kesalahan. Pada masyarakat tutur bahasa Jawa, meminta maaf cenderung dinyatidakan terlebih dahulu meskipun sebenarnya hal yang dituturkan atau dilakukannya belum tentu salah. Fokus penelitian ini adalah bentuk tindak tutur meminta maaf pada masyarakat Jawa di wilayah Kelurahan Beringin, Kecamatan Lakarsantri, Kota Surabaya. Penelitian ini menggunakan pendekatan deskriptif kualitatif dengan rancangan etnopragmatik. Data penelitian diperoleh dari 46 subjek penelitian melalui observasi dan wawancara mendalam. Analisis data dilakukan dengan model alir yang di dalamnya terdapat reduksi, sajian, verifikasi, dan penyimpulan. Hasil penelitian menunjukkan bahwa bentuk tutur untuk meminta maaf dibedakan berdasarkan modus dan komponennya.
Pengaruh Struktur Kepemilikan Dalam Mekanisme Corporate Governance Terhadap Cost Of Equity Capital
Authors: Tarjo Tarjo 
Published: November 2017

AbstractCorporate governance mechanisms believed to have strong impact to the companies’ performance. Corporate governance mechanisms examined in this study are managerial ownership and institutional ownership structure. The purposes of this study are to know the variables effect of managerial ownership and institutional ownership on cost of equity capital. The samples of the study are firms listed in Jakarta Stock Exchange in 2005. The F-test on the all variables at the level confidence 1% indicates the effect of all variables on cost of equity capital is significant. The result of this study showed that managerial ownership and institutional ownership have positive significant impact (at the level of confidence 1% and 5%) on the cost of equity capital. However this result showed that corporate governance mechanisms fail to decrease the cost of equity capital.
Kinerja Modal Intelektual, Keragaman Gender dan Keragaman Kewarganegaraan dalam Dewan Direksi
Authors: Noorkhaista Erfelinda , Sari Dahlia 
Published: November 2017

AbstractThis study aims to study the impacts of gender and nationality diversity on board structure to intellectual capital performance of manufacturing companies in Indonesia. The samples are 137 manufacturing company listed on the Indonesia Stock Exchange in 2014. Samples were studied using the linear cross-sectional regression model. Based on the results of empirical tests, we concluded that gender diversity on board structure that are measured by percentage and dummy, do not have impact on intellectual capital performance of manufacturing companies in Indonesia. This shows that the synergy expected in gender diversity have not been able to increase intellectual capital performance. However, nationality diversity on board structure, that are also measured by percentage and dummy, shows positive impact on intellectual capital performance of manufacturing companies in Indonesia. This result shows that nationality diversity can be considered as the factors in appointing board of directors to increase intellectual capital performance. Intellectual capital performance in this study is measured by VAICTM.AbstrakPenelitian ini bertujuan untuk meneliti pengaruh keragaman gender dan keragaman kewarganegaraan dalam dewan direksi terhadap kinerja modal intelektual perusahaan manufaktur di Indonesia. Sampel penelitian adalah 137 sampel perusahaan manufaktur yang terdaftar di Bursa Efek Indonesia pada tahun 2014. Sampel diolah dengan metode regresi linear cross-sectional. Berdasarkan hasil uji empiris, diperoleh kesimpulan bahwa keragaman gender dalam dewan direksi, yang diukur dengan persentase dan dummy, tidak berpengaruh terhadap kinerja modal intelektual perusahaan manufaktur di Indonesia. Hal ini menunjukkan bahwa sinergi yang diharapkan dalam keragaman gender belum dapat mendorong peningkatan kinerja modal intelektual perusahaan. Namun hasil pengujian keragaman kewarganegaraan dalam dewan direksi, yang juga diukur dengan persentase dan dummy, menunjukkan pengaruh positif terhadap kinerja modal intelektual perusahaan manufaktur di Indonesia. Hal ini menunjukkan bahwa faktor keragaman kewarganegaraan dapat menjadi faktor yang dipertimbangkan dalam pengangkatan dewan direksi dengan tujuan untuk dapat mendorong peningkatan kinerja modal intelektual. Kinerja modal intelektual pada penelitian ini diukur menggunakan VAICTM.
KONTROL DIRI, PENDIDIKAN PENGELOLAAN KEUANGAN KELUARGA, PENGETAHUAN INKLUSI KEUANGAN SISWA PENGARUHNYA TERHADAP PERILAKU MENABUNG SISWA SMK SE KOTA KEDIRI
Authors: Ardiana Meta 
Published: November 2017

This study aimed (1) to analyze the influence of self-control on the savings behaviors of students, (2) analyze the influence of family financial management education to saving behavior, (3) analyze the effect of students knowledge of financial inclusion on the saving behaviors of students, (4) analyze the influence of self control, family financial management education, students knowledge of financial inclusion on saving behavior of students SMK in Kediri. The population in this study is accounting students and banking students a total of 477 and a total sample of 211 students. The data collection techniques used were questionnaire and document. Analyze methode using multiple linear regression technique. The result showed that the self control, family financial management education, students knowledge of financial inclusion partially has positive significant effect on saving behaviors student SMK in Kediri. Self control, family financial management education, students knowledge of financial inclusion Simultaneously have positive significant effect on saving behaviors student SMK in Kediri
YOUTUBE: TROBOSAN MEDIA PEMBELAJARAN EKONOMI BAGI MAHASISWA
Authors: Luhsasi Dwi Iga , Sadjiarto Arief 
Published: November 2017

This study starts from the problem of the using of technology-based learning media. Nowadays, this media more needed. Why? Because students more like learn using the technology than using the conventional method. But the utilization of economic-accounting learning media not being used optimally. There are economic-accounting learning media on YouTube have no interesting content. Contents that show on YouTube are about the hobby and art. So, the aim of this study is to know the properness of technology-based learning media development on YouTube. The subjects of this study are 2 expert test subjects and 24 trial test subjects. Trial test subjects are students of Economic Education FKIP UKSW. The result of this study is technology-based learning media can be used by students. This media proper as economic-accounting’s learning media. Hopefully, in the future studies can be able to improve the economic-accounting learning media on YouTube.
PENGARUH STATUS SOSIAL EKONOMI ORANGTUA DAN HASIL BELAJAR EKONOMI TERHADAP LITERASI EKONOMI DI SMP NEGERI 43 SURABAYA
Authors: Ernawati Lilik 
Published: November 2017

This research to know socio economic status influence socio economic status and learning outcome economy by partial and together to literacy VIII SMPN class student's economy 43 Surabaya. The research is quantitative approach. Total Sample as much as 176 VIII class student from population total of 314 students. Research result indicate that the economic and social status of the study results in significant economic literacy on partial and together, it means that parents and socio economic status in both high economic study results will boost the knowledge and economic literacy.
Implementasi Permendikbud No. 111 Tahun 2014 dan Implikasinya terhadap Kompetensi dan Uraian Tugas Guru Bimbingan Konseling
Authors: Riskiyah Riskiyah 
Published: November 2017

AbstrakArtikel ini berisi ulasan mengenai seperangkat tugas guru BK dalam implementasi program bimbingan dan konseling berdasarkan Permen Dikbud No 111 Tahun 2014, untuk melakukan tugas-tugas tersebut ada seperangkat kompetensi yang harus dimiliki oleh guru BK. Ulasan tugas dan syarat kompetensi berikut merupakan hasil dari pengkajian literatur tentang program bimbingan dan konseling komprehensif. Disajikan pula sistematika dalam mengimplementasikan keempat komponen program beserta konten dan strategi layanan yang telah digunakan selama dua tahun di SMA Negeri 2 Sumenep. Gagasan ini dapat menjadi alternatif model dalam mengembangkan program BK seperti yang diamanatkan dalam Permen Dikbud No 111 Tahun 2014. AbstractThis article describes about a set of school counselor duty regard to implementation of school counseling program according to Permen Dikbud No 111 Tahun 2014, in order to conduct the duties there is a set of competencies which is every counselor should have. The following job description and competencies is yield of many literature review about comprehensive school counseling program. Additionally there is an example of how to implement the four component of counseling program with some content and techniques that have been applied since last two years ago in SMA Negeri 2 Sumenep, this concept can be an alternate model in order to develop school counseling program according to Permen Dikbud No 111 Tahun 2014.
Pengembangan Ketrampilan Berpikir Tingkat Tinggi dengan Menggunakan Strategi Metakognitif Model Pembelajaran Problem Based Learning
Authors: Sucipto Sucipto 
Published: November 2017

AbstrakSecara umum capaian ketrampilan berpikir tingkat tinggi peserta didik masih rendah dibanding negara lain. Untuk mengembangkan keterampilan berpikir tingkat tinggi, pendidik dituntut untuk menciptakan suasana belajar yang mendukung dan menggunakan strategi pembelajaran. Upaya meningkatkan ketrampilan berpikir peserta didik dapat dilakukan dengan meningkatkan ketrampilan metakognisinya. Ada berbagai jenis strategi metakognitif yang dapat dipilih pendidik, satu diantaranya menggunakan strategi pemecahan masalah (problem solving). Dalam proses pemecahan masalah, individu menggunakan kedua kemampuan kognitif dan keterampilan praktis, yang meliputi kegiatan metakognitif seperti analisis, sintesis dan evaluasi. Pembelajaran berbasis masalah merupakan pendekatan pembelajaran yang digunakan untuk merangsang berpikir tingkat tinggi siswa dalam situasi yang berorientasi pada masalah yang nyata, termasuk di dalamnya belajar bagaimana belajar. AbstractIn general, higher order thinking skills achievements of learners is still low compared to other countries. To develop higher order thinking skills, educators are required to create a learning atmosphere that supports and use learning strategies. Efforts to improve thinking skills that learners can do to improve metacognitive skills. There are different types of metacognitive strategies that can be selected educators, one of which uses problem solving strategies. In the process of solving problems, individuals using both cognitive abilities and practical skills, which include metacognitive activities such as analysis, synthesis and evaluation. Problem-based learning is an instructional approach used to stimulate students' higher order thinking in situations oriented real problems, including learning how to learn.
Periphytic Diatoms in the Polluted Linggi (sensu stricto) and Kundor Rivers, Negeri Sembilan, Malaysia
Authors: KHAN I.S.A. NATHER 
Published: November 2017

The investigation in this paper aimed to describe periphytic diatom assemblage, species composition and distribution in tropical polluted Linggi (sensu stricto or s.s.) and Kundor rivers in Negeri Sembilan, Malaysia. Regardless of ecological and environmental conditions, diatoms were the numerically dominant flora among periphytic algae collected monthly over a period of 13 months at nine stations in the Linggi (s.s.) and Kundor rivers. The freshwater periphytic diatom samples were collected mainly using artificial substrates and supplemented with natural substrates. The periphytic diatoms thus collected from both natural and artificial substrates comprised 86 taxa (82 pennate and 4 centric forms) belonging to 21 genera. Of the 86 species, 71 species were found colonized in artificial substrates while the remaining 15 species were recorded exclusively on natural substrates. On the whole, the most common diatoms in both rivers combined were Eunotia vanheurckii, Gomphonema parvulum, Nitzschia palea, Pinnularia braunii, Navicula cryptocephala, Achnanthes saxonica, Achnanthes minutissima and Pinnularia microstauron. The most abundant species were E. vanheurckii, N. palea, A. saxonica, G. parvulum and A. minutissima.
Biodiesel Production from Castor Oil and Its Application in Diesel Engine
Authors: Ismail S , Abu S. A , Rezaur R , Sinin H 
Published: November 2017

In this study, the optimum biodiesel conversion from crude castor oil to castor biodiesel (CB) through transesterification method was investigated. The base catalyzed transesterification under different reactant proportion such as the molar ratio of alcohol to oil and mass ratio of catalyst to oil was studied for optimum production of castor biodiesel. The optimum condition for base catalyzed transesterification of castor oil was determined to be 1:4.5 of oil to methanol ratio and 0.005:1 of potassium hydroxide to oil ratio. The fuel properties of the produced CB such as the calorific value, flash point and density were analyzed and compared to conventional diesel. Diesel engine performance and emission test on different CB blends proved that CB was suitable to be used as diesel blends. CB was also proved to have lower emission compared to conventional diesel.