bluuebunny/crossref_metadata_2025_split huggingface dataset:
Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation
Authors: Muratoğlu Şahin Nursel , Bilici Meliha Esra , Kurnaz Erdal , Pala Akdoğan Melek , Ceylaner Serdar , Aycan Zehra 
Published: July 2017

AbstractBackground:Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type.Case presentation:A 2-month-19-day-old male child presented with symptoms of limited movement and discomfort with movement in the extremities. His sister, who had similar clinical findings, was diagnosed with tetralogy of Fallot and died at 6 months of age. A physical examination revealed an atypical facial appearance, bilateral cataracts, sensitivity to touch in the extremities, shortness in the proximal segments of the long bones, limited movement in both knees and elbows and axial hypotonicity. Laboratory analyses revealed normal ammonia, lactate, plasma and urine amino acids, long chain fatty acids and phytanic acid levels. Rhizomelia, significant metaphyseal expansion, irregularities in the cortex, loss of ossification, fragmented appearance and punctate calcifications in both elbows, both knees and in the femoral epiphysis were seen on the skeletal survey. A homozygote p.L70W (c.209T>G) mutation was found in theConclusions:Plasma phytanic acid levels can be normal in a patient with type 1 RCDP that develops as a result of a
Integral estimation of xenobiotics’ toxicity with regard to their metabolism in human organism
Authors: Dmitriev Alexander , Rudik Anastasia , Filimonov Dmitry , Lagunin Alexey , Pogodin Pavel , Dubovskaja Varvara , Bezhentsev Vladislav , Ivanov Sergey , Druzhilovsky Dmitry , Tarasova Olga , Poroikov Vladimir 
Published: July 2017

Abstract
Toxicity and severe adverse effects are the primary cause of drug-candidate failures at the late stages of preclinical and clinical trials. Since most xenobiotics undergo biotransformations, their interaction with human organism reveals the effects produced by parent compounds and all metabolites. To increase the chances of successful drug development, estimation of the entire toxicity for drug substance and its metabolites is necessary for filtering out the potentially toxic compounds. We proposed the computational approach to the integral evaluation of xenobiotics’ toxicity based on the structural formula of the drug-like compound. In the framework of this study, the consensus QSAR model was developed based on the analysis of over 3000 compounds with information about their rat acute toxicity for intravenous route of administration. Four different numerical methods, estimating the integral toxicity, were proposed, and their comparative performance was studied using the external evaluation set consisting of 37 structures of drugs and 200 their metabolites. It was shown that, on the average, the best correspondence between the predicted and published data is obtained using the method that takes into account the estimated characteristics for both the parent compound and its most toxic metabolite.
The black soldier fly, Hermetia illucens – a promising source for sustainable production of proteins, lipids and bioactive substances
Authors: Müller Ariane , Wolf Diana , Gutzeit Herwig O. 
Published: July 2017

Abstract
The growing demand worldwide for proteins and lipids cannot be met by the intensive use of agricultural land currently available. Insect mass cultures as a source for proteins and lipids have been in focus for various reasons. An insect with many positive properties is the black soldier fly, Hermetia illucens, whose larvae could be used for the sustainable production of proteins and lipids. Furthermore, the larvae produce bioactive substances which could potentially be used for human and animal welfare.
Polycystic ovary syndrome and the risk of obstructive sleep apnea: a meta-analysis and review of the literature
Authors: Helvaci Nafiye , Karabulut Erdem , Demir Ahmet Ugur , Yildiz Bulent Okan 
Published: July 2017

Background and Objective
Polycystic ovary syndrome (PCOS) has been reported to be associated with the development of obstructive sleep apnea (OSA). The objective of this meta-analysis is to assess the relationship between PCOS and OSA.

Methods
A literature search was conducted to identify studies linking PCOS with the risk of OSA. Studies in which the presence of OSA was confirmed with overnight polysomnography were included. Random effects models were used to calculate pooled relative risks.

Results
Eight studies conducted in adults and five studies conducted in adolescents were identified. The pooled OSA prevalence was 0.22 (95% confidence interval (CI): 0.08–0.40) in PCOS patients. The pooled prevalence of OSA was higher in adults (0.32, 95% CI: 0.13–0.55) than adolescents (0.08, 95% CI: 0.00–0.30). Risk of OSA was significantly increased in adult patients with PCOS (odds ratio (OR) 9.74, 95% CI: 2.76–34.41). Risk of OSA was not significantly increased in adolescents (OR: 4.54, 95% CI:0.56–36.43).

Conclusions
These findings demonstrate a significant association between PCOS and OSA in adult patients. Considering the increased risk for long-term cardiometabolic disorders associated with both PCOS and OSA, it is important to diagnose and treat OSA in patients with PCOS.
Posconflicto colombiano y sus efectos económicos
Authors: Ruiz Diaz María , Galeano Raquejo John , Gil Mateus Edwin 
Published: July 2017

<p align="center">Resumen</p><p> </p><p>Las negociaciones de paz del gobierno con las denominadas Fuerzas Armadas Revolucionarias de Colombia (FARC) podrían tener efectos sobre la economía colombiana. Por ello se esbozan tres escenarios –pesimista, neutral y optimista– en los que se distingan efectos a nivel financiero y de comercio internacional en los cinco años posteriores a la finalización del proceso de negociación. Partiendo del estudio de casos en cinco países que enfrentaron la terminación de un conflicto interno, por vía militar o diplomática, se analizaron variables sobre las cuales se podría prever un efecto, teniendo en cuenta el posconflicto y el desenlace de las negociaciones de paz entre la guerrilla y el Gobierno. Se concluye que en los cinco años posteriores a la firma del acuerdo, la balanza de bienes y servicios crecería entre el 3% y 6%; el comercio lo haría entre 10% y 15%; el Riesgo País se incrementaría alrededor de 4 puntos; la Inversión Extranjera Directa (IED) aumentaría entre 40% y 50%; el crecimiento del PIB anual estaría 1 ó 2 puntos porcentuales más alto que el actual y el gasto militar disminuiría al 10% como porcentaje del PIB.</p><p> </p><p align="center">Abstract</p><p> </p><p>The government peace negotiations with the so-called Revolutionary Armed Forces of Colombia (FARC) could have an impact on the Colombian economy, being relevant to analyze such effects. Therefore three possible scenarios to financial and international trade level for a period of five years, compared to the possible outcomes of the negotiation process are outlined. From case studies in five countries faced the completion of an internal conflict, military or diplomatic channels, variables were analyzed on which could provide an effect, taking into account the post-conflict and outcome of peace negotiations between the guerrillas and the government. It is concluded that in the five years after signing the agreement, the balance of goods and services would grow between 3% and 6%; would trade between 10% and 15% greater; country risk would rise about 4 points; Foreign Direct Investment (FDI) would increase between 40% and 50%; annual GDP growth would be 1 or 2 percentage points higher than the current and military spending would decrease 10% as a percentage of GDP.</p>
La responsabilidad institucional pública: un análisis para el mejoramiento de la gestión y la gerencia en la administración pública
Authors: González Sotelo Clara , Naranjo Africano Gloria 
Published: July 2017

<p>Las crecientes demandas de organizaciones sociales y defensoras de Derechos Humanos frente a la gestión de las Entidades públicas y privadas, exigen que éstas busquen superar la simple producción de bienes o servicios a usuarios internos y externos, en razón a que los ciudadanos reclaman una relación basada en su reconocimiento como sujetos de derechos y en una gestión ética que no se limite a la básica aplicación formal de normas legales. Desde esta perspectiva, en el marco de la Responsabilidad social y partiendo del concepto de lo público (en el que está implícito lo social), este estudio pretende señalar lineamientos para la construcción de la Responsabilidad Institucional Pública (RIP) -equivalente a la Responsabilidad Social Empresarial del sector privado-, con el fin de contribuir al fortalecimiento del sentido misional y legitimidad de las Entidades Estatales, desde una llamada a lo ético; ello, a partir de los resultados del diagnóstico de las prácticas de RIP evidenciadas en tres entidades del sector público colombiano: una entidad del nivel ejecutivo central, una empresa social del estado(ejecutora) y un organismo de control . De los resultados obtenidos se encuentra que, el factor que alcanza mayor coincidencia en la afirmación de tales prácticas, es el de transparencia (en lo que hace referencia al cumplimiento de requisitos formales); en tanto que el de desarrollo del capital humano, es en el que se da menor reconocimiento de su aplicación.</p><p>Abstract</p><p>The increasing demands of social organizations and human rights defenders facing the management of public and private entities, they require looking beyond the mere production of goods or services to internal users and external liabilities due to citizens claiming a relationship based on their recognition as subjects of rights and ethical management that goes beyond the formal application of basic legal standards. From this perspective, in the context of social responsibility and based on the Aristotelian concept of the public (which is implicit in the social), this study seeks to identify guidelines for the construction of a public policy Public Institutional Responsibility (RIP)-equivalent Corporate Social Responsibility-private sector, to help strengthen the sense of mission and legitimacy of state entities, from a call to the ethical, therefore, from the results of diagnostic practices evidenced in RIP sector three entities. In turn, the higher reaches coincidence factor in the affirmation of such practices is that of transparency (which refers to the formal requirements) while the development of human capital, which gives less recognition of their application.</p>
Sequence-Based Mapping and Genome Editing Reveal Mutations in SticklebackHps5Cause Oculocutaneous Albinism and thecasperPhenotype
Authors: Hart James C , Miller Craig T 
Published: July 2017

AbstractHere, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus). In humans, Hermansky-Pudlak syndrome results in pigmentation defects due to disrupted formation of the melanin-containing lysosomal-related organelle (LRO), the melanosome. casper mutants display not only reduced pigmentation of melanosomes in melanophores, but also reductions in the iridescent silver color from iridophores, while the yellow pigmentation from xanthophores appears unaffected. We mapped casper using high-throughput sequencing of genomic DNA from bulked casper mutants to a region of the stickleback X chromosome (chromosome 19) near the stickleback ortholog of Hermansky-Pudlak syndrome 5 (Hps5). casper mutants have an insertion of a single nucleotide in the sixth exon of Hps5, predicted to generate an early frameshift. Genome editing using CRISPR/Cas9 induced lesions in Hps5 and phenocopied the casper mutation. Injecting single or paired Hps5 guide RNAs revealed higher incidences of genomic deletions from paired guide RNAs compared to single gRNAs. Stickleback Hps5 provides a genetic system where a hemizygous locus in XY males and a diploid locus in XX females can be used to generate an easily scored visible phenotype, facilitating quantitative studies of different genome editing approaches. Lastly, we show the ability to better visualize patterns of fluorescent transgenic reporters in Hps5 mutant fish. Thus, Hps5 mutations present an opportunity to study pigmented LROs in the emerging stickleback model system, as well as a tool to aid in assaying genome editing and visualizing enhancer activity in transgenic fish.
OPTIMASI PEMANFAATAN SUMBERDAYA IKAN KARANG HIDUP KONSUMSI (LIFE REEF FISH FOR FOOD / LRFF) DI PERAIRAN KEPULAUAN SPERMONDE, SULAWESI SELATAN
Authors: Nababan Benny Osta , Sari Yesi Dewita 
Published: July 2017

Penelitian ini bertujuan untuk mengetahui tingkat pemanfaatan dan menentukan tingkat optimal pemanfataan sumberdaya LRFF di perairan Kepulauan Spermonde. Penelitian ini dilakukan di perairan Kepulauan Spermonde, Sulawesi Selatan. Penelitian ini menggunakan model surplus produksi dengan fungsi pertumbuhan logistik. Model pengelolaan dilihat dari rezim maximum economi yield, maximum sustainable yield dan open access. Hasil penelitian menunjukkan bahwa nilai biomas optimal pada rezim maximum economic yield (MEY) adalah 5.120 ton, tingkat produksi optimal adalah 1.047 ton dan jumlah effort (trip) optimal yang diperbolehkan adalah 284.792 trip. Pada rezim maximum sustainable yield (MSY) biomas, produksi dan upaya lestari adalah berturut-turut 4.154 ton, 1.107 ton dan 371.128 trip. Rezim akses terbuka biomas maksimum hanya 1.933 ton, produksi maksimum yang dapat diperoleh sebesar 790 ton dan jumlah trip maksimum yang diperbolehkan 569.584 trip. Rente ekonomi yang diperoleh jika menerapkan rezim MEY adalah Rp 41.587.148.882, rezim MSY adalah Rp 37.765.171.742 dan rezim open access adalah Rp.0. Pemanfaatan sumberdaya LRFF di Kepulauan Spermonde telah terjadi overfishing karena diketahui produksi aktual lebih tinggi daripada produksi optimal yang disarankan. Oleh karena itu diperlukan pengelolaan perikanan sumberdaya LRFF yang mengarah kondisi optimal agar dalam jangka panjang pemanfaatan sumberdaya LRFF tetap lestari. Tittle: Optimal Exploitation Of Life Reef Fish For Food (LRFF) In The Spermonde Islands Of South Sulawesi.This research aimed to understand about the LRFF resources exploitation rate and its optimal used in the Spermonde Islands. The research was conducted in Spermonde Island of South Sulawesi. This research was used surplus production model with logistic growth function. Management model of LRFF resources based on maximum economic yield, maximum sustainable yield and open access regimes. Results showed that optimal biomass, optimal production and optimal effort at maximum economic yield were obtained at 5.120 ton, 1.047 ton and 284.792 trip. Sustainable biomass, productions and effort at maximum sustainable yield were 4.154 ton, 1.107 ton and 371.128 trip. Maximum biomass, productions and effort at open access were 1.933 ton, 790 ton and 569.584 trip. Economic rent obtained if applying regime of MEY was Rp 41.587.148.882, regime MSY was Rp 37.765.171.742 and regime open access was Rp.0. Exploitation of LRFF at Spermonde Island had indicated over fishing, because actual productions was greater than optimal productions. Therefore, on optimal management of LRFF fisheries resource is required to ensure long-term sustainability of the LRFF
IDENTIFIKASI JENIS DAN NILAI PEMANFAATAN SUMBERDAYA MANGROVE DI TELUK KUPANG, PROPINSI NUSA TENGGARA TIMUR
Authors: Ramadhan Andrian , Savitri Sachivitra 
Published: July 2017

Penelitian ini dilakukan pada bulan Agustus tahun 2006. Tujuan penelitian ini adalah untuk mengidentifikasi jenis dan nilai pemanfaatan sumberdaya mangrove di Teluk Kupang, Nusa Tenggara Timur. Pendekatan yang digunakan adalah penelitian survei. Data yang diperoleh dianalisis secara deskriptif dan kuantitatif. Hasil yang didapat bahwa jenis pemanfaatan sumberdaya mangrove terdiri dari penangkapan sumberdaya ikan, pemanfaatan sumberdaya kayu dan pemanfaatan lahan untuk kegiatan tambak bandeng dan garam. Total nilai pemanfaatan mangrove adalah sebesar Rp. 171.415.954./ha/tahun. Perikanan tangkap memberikan kontribusi terbesar yaitu mencapai 98 persen, sehingga dapat dikatakan bahwa sumberdaya mangrove merupakan sumber pendapatan terpenting bagi masyarakat yang tinggaldisekitarnya. Oleh karena itu kebijakan dalam pengelolaan sumberdaya pesisir, khususnya menyangkut perubahan pemanfaatan wilayah, perlu mempertimbangkan dampak sosial ekonomi yang akan terjadi terhadap masyarakat. Tittle: Identification of Utilization and Benefit Value of Mangrove at Kupang Bay, East Nusa Tenggara ProvinceResearch was conducted on August 2006. The aim of the research were to identify the utilization and benefit valueof mangrove at Kupang Bay, East Nusa Tenggara Province. Survey research approach was used in this research and data were analyzed descriptively and quantitatively. The result showed that mangrove were utilized for capture fisheries, wood sources and land exploitation for milk fish and salt production. Economic value of mangrove was Rp. 167.402.305/ha/year. Capture fisheries are the largest contribution, up to 98 percent. Mangrove is the most important income source for society in Kupang Bay who live in the vicinity. Therefore coastal management policy was required to be developed by considering the impact on socio economics of mangrove utilization on community at Kupang Bay, especially related to coastal utilizatin area change.
ANALISIS KEBERLANJUTAN PERIKANAN TANGKAP SKALA KECIL DI KABUPATEN TEGAL JAWA TENGAH (TEKNIK PENDEKATAN RAPFISH)
Authors: Nababan Benny Osta , Sari Yesi Dewita , Hermawan Maman 
Published: July 2017

Penelitian keberlanjutan perikanan tangkap skala kecil di Kabupaten Tegal, Jawa Tengah telah dilakukan pada tahun 2005 - 2006. Keberlanjutan perikanan tangkap ditentukan oleh interaksi beberapa aspek (dimensi) penting seperti dimensi ekologi, teknologi, sosial, ekonomi dan hukum-kelembagaan. Penelitian ini bertujuan untuk menentukan status perikanan tangkap skala kecil dalam perspektif keberlanjutan menurut dimensi ekologi, teknologi, sosial, ekonomi serta hukum-kelembagaan, serta mengidentifikasi kebijakan untuk mendukung keberlanjutan perikanan tangkap di Kabupaten Tegal. Teknik Rapfish adalah analisis kuantitatif yang digunakan dalam penelitian ini untuk mengevaluasi status keberlanjutan perikanan tangkap di lokasi penelitian. Pada dimensi ekologi, ekonomi, teknologi, dan hukum-kelembagaan di Kabupaten Tegal untuk semua alat tangkap yang diteliti dalam status kurang berkelanjutan baik untuk jaring rampus, bundes maupun payang gemplo. Studi ini menunjukkan bahwa dimensi ekologi merupakan dimensi yang memiliki skor paling rendah dengan skor kurang bahkan cenderung menjadi buruk dalam mendukung keberlanjutan perikanan tangkap skala kecil di perairan pantai Kabupaten Tegal. Studi ini juga berhasil mengidentifikasi atribut-atribut penting dan sensitif. Perbedaan status keberlanjutan berdasarkan alat tangkap di lokasi penelitian juga teridentifikasi dengan jelas berdasarkan atribut-atribut pendukungnya. Studi ini juga merekonfirmasi pentingnya keterpaduan aspekaspek bio-techno-socioeconomic dalam pengembangan pola pengelolaan perikanan. Tittle: Sustainability Analysis of Small Scale Fisheries in Tegal District of Central Java (a Fish Approach).The research on sustainability of small scale fisheries in Tegal district, Central Java has been carried out. Fishery sustainability is determined by several interacting factors, such as ecology, technology, social, economic and legal-institution. The objective of this study was to determine the sustainability status of small scale fishery according to ecological, technological, social, economic, and legal-institutional dimensions. The second objective was to identify policy promoting for the capture fisheries sustainability. Sustainability of fishery in the coastal area of Tegal district analyzed quantitatively by Rap fish technique. Fishing gears, such as Jaring Rampus, Bundes and Payang Gemplo weren’t in sustainable status from ecological, economic, technical and legal- institutional standpoints. The study showed that ecological aspect has the lowest score in order to support small scale fishery sustainability in the coastal water of Tegal. Differences in sustainability status are likely due to variations in main characteristic of the fisheries. Several sensitive attributes and recommendations in order to support fisheries sustainability, also identified in this study. This study reconfirms the need to apply comprehensive and integrated bio-technico-socioeconomic aspects in developing fisheries management.
ASSOCIAÇÃO ENTRE DOMÍNIO DE CAPACIDADE FUNCIONAL (SF-36), MEDO DE CAIR E HISTÓRICO DE QUEDAS EM IDOSOS ATIVOS
Authors: Cardoso Fernanda Pinheiro , Kruger Gonçalves Andréa 
Published: July 2017

RESUMO Objetivos: Este estudo teve como objetivo verificar a associação entre domínio de capacidade funcional, medo de cair, idade e histórico de quedas de idosos ativos. Metodologia: Estudo descritivo, quantitativo. A amostra (n=152) foi dividida em idosos caidores (n=28) e idosos não caidores (n=124), onde se utilizou do domínio de capacidade funcional do questionário de Avaliação de Qualidade de Vida (Brasil SF-36), da escala de eficácia em quedas – Internacional – Brasil (FES – I – Brasil) e do relato de ocorrência de quedas. Para a relação dos dados se utilizou da Correlação de Pearson no programa SPSS 17.0. Resultados: Pode-se observar que embora tenha sido apresentada significância estatística, a correlação de Pearson não mostrou relação significante entre o domínio de capacidade funcional, o medo de cair e a idade na comparação dos grupos de caidores e não caidores. Dessa maneira a hipótese de que a prevalência de quedas poderia influenciar na capacidade funcional e no medo de cair não pode ser confirmada. Considerações finais: A amostra estudada identificou baixa prevalência de quedas, os grupos apresentaram um bom nível de independência funcional. Os valores médios obtidos através dos questionários são muito semelhantes, ligeiramente mais favoráveis aos idosos não caidores, no entanto, ambos apresentaram preocupação com a queda.
A relação entre a adesão e a evasão de idosos em projetos e atividades físicas1
Authors: Barroso Júnior João Coutinho , Faria Junior Alfredo Gomes de 
Published: July 2017

O estudo observou a evasão de idosos nos projetos de atividade física da Secretaria de Esporte e Lazer, Cidade de Rio das Ostras. A motivação é o que leva o idoso a se matricular em programas de atividades físicas. Após a adesão, o peso da motivação vai fazer com que ele permaneça ou não na atividade. A evasão de idosos em atividades físicas já foi alvo de poucos estudos, o foco das pesquisas está mais direcionado à motivação para a adesão. O campo de pesquisa foram os projetos ‘Bom Dia’ e ‘Hidroginástica’. Pesquisa quanti-qualitativa indicou uma relação entre a motivação e a evasão, a principal causa da evasão é a mesma que motiva a matrícula, a saúde ou a falta dela.
FROM STAGNATION TO THE DEVELOPMENT OF THE RUSSIAN INDUSTRY: WAYS TO IMPROVE MANAGEMENT PRACTICES AND REGULATION
Authors: NIKITIN G. S. 
Published: July 2017

The Article is dedicated to research of the ways to achieve Russia’s strategic goals in the sphere of industrial development under the conditions when import substitution has become one of the main governmental policy trends over the recent years. It is shown that the industrial policy should be underpinned by the project management in order to ensure sustainable development of the key sector of the national economy. Systematized are priority methods of long-term support of industrial enterprises aimed at enhancing the competitiveness of domestic products.