30 research outputs found

    Factors affecting nutritional quality in terms of the fatty acid composition of Cyprinion macrostomus

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    This study aimed to evaluate the effect of different factors (season, gender, location, total lipid, weight and length) on the fatty acid composition and nutritional quality of Cyprinion macrostomus. The results were evaluated through PERMANOVA, principal coordinates (PCO), and cluster analysis for similarity ranges. An analysis of similarity (ANOSIM) was performed on the distance matrix using multiple permutations within a significant fixed effect (p < 0.05). C18:1ω9, EPA and DHA were the most important fatty acids which had an effect on the nutritional quality in all the factor groups. Total lipid amount, season and length factors were the most influential on the fatty acid compositions of C. macrostomus. Summer and Spring were the best the periods for the good nutritional quality of C. macrostomus in terms of AI (Atherogenicity index), TI (Thrombogenicity index) and h/H (Σhypocholesterolemic/Σhypercholesterolemic fatty acid index). In addition, station, gender and weight had no effect on nutritional quality. The study indicated that C. macrostomus is a potential fish meat for human nutrition with high nutritional value in terms of fatty acid composition

    Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

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    Background Nephronophthisis associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP), Senior-Loken syndrome (SLS), Joubert syndrome (JBTS), and Meckel-Gruber syndrome (MKS). To date, causative mutations in NPHP-AC have been described for 18 different genes, rendering mutation analysis tedious and expensive. To overcome the broad genetic locus heterogeneity, a strategy of DNA pooling with consecutive massively parallel resequencing (MPR) was devised.Methods In 120 patients with severe NPHP-AC phenotypes, five pools of genomic DNA with 24 patients each were prepared which were used as templates in order to PCR amplify all 376 exons of 18 NPHP-AC genes (NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, TMEM67, INPP5E, TMEM216, AHI1, ARL13B, CC2D2A, TTC21B, MKS1, and XPNPEP3). PCR products were then subjected to MPR on an Illumina Genome-Analyser and mutations were subsequently assigned to their respective mutation carrier via CEL I endonuclease based heteroduplex screening and confirmed by Sanger sequencing.Results For proof of principle, DNA from patients with known mutations was used and detection of 22 out of 24 different alleles (92% sensitivity) was demonstrated. MPR led to the molecular diagnosis in 30/120 patients (25%) and 54 pathogenic mutations (27 novel) were identified in seven different NPHP-AC genes. Additionally, in 24 patients only single heterozygous variants of unknown significance were found.Conclusions The combined approach of DNA pooling followed by MPR strongly facilitates mutation analysis in broadly heterogeneous single gene disorders. The lack of mutations in 75% of patients in this cohort indicates further extensive heterogeneity in NPHP-AC

    Towards automatic selection of direct vs. iterative solvers for cloud-based finite element analysis

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    Due to copyright restrictions, the access to the full text of this article is only available via subscription.The new trend in engineering is to solve complex computational problems in the cloud using high performance computing (HPC) services provided by different vendors. In this paper, we compare performances of direct vs. iterative linear equation solvers to help with the development of job schedulers that can automatically choose the best solver type and tune them (e.g. precondition the matrices) according to job characteristics and workload conditions seen in the HPC cloud services. As a proof of concept, we use three classical elasticity problems, namely a cantilever beam, Lame problem and the stress concentration factor (SCF), whose analytical solutions are well-known. We mesh these linear problems with increasing granularities, which leads to various matrix sizes; the largest having one billion non-zero elements. Detailed finite element analyses using an IBM HPC cluster are executed. We first use the multi-frontal parallel, sparse direct solver MUMPS and evaluate its performance with Cholesky and LU decompositions of the generated matrices with respect to memory usage, and multi-core, multi-node execution performances. As for the iterative solver, we use the PETSc library and carry out studies with several Krylov subspace methods (CG, BiCG, GMRES) and preconditioner combinations (BJacobi, SOR, ASM, None). Finally, we compare and contrast the direct and iterative solver results in order to find the most suitable algorithm for varying cases obtained from numerical modelling of these three-dimensional linear elasticity problems

    The Prevalence of Supracondyloid Process in the Living: A Radiographic Study

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    Objective: The spur or the supracondyloid process of the humerus has been of special interest to anatomists, anthropologists and clinicians. Apart from the anthropological research by ancient authors and clinical studies carried out half a century ago, no study of this variation appear in the literature. The aim of the present work is to investigate this variation in the living subjects. Methods: The present information was performed on direct radiograms of the elbow obtained from the volunteer individuals. This study was carried out over a 3-year period from 2005–2008. Results: The spur was found in 9 cases among the 903 persons examined. Bilateral occurrence of the process was higher than that reported in the literature. The cases with the spur reported mild pain in the forearm over a long period. Conclusion: This study showed a higher occurrence of bilateral supracondyloid process than previously reported. It is also suggested that the cases reported as asymptomatic may not be fully free of the complaint of pain which might assist the clinician in their diagnosis. Keywords: Brachial artery, median nerve, struthers ligament, supracondylar spur, variation "Prevalencia del Proceso Supracondileo en los Vivos: un Estudio Radiográfico" AAydinlioglu, FN Gumrukcuoglu, N Koyun RESUMEN Objetivo: El espolón o proceso supracondileo del húmero ha sido de interés especial para anatomistas, antropólogos y médicos. Aparte de la investigación antropológica por autores en la antigüedad, y los estudios clínicos llevados a cabo tan sólo hace medio siglo, no hay un estudio de esta variación en la literatura. El objetivo del trabajo presente es investigar esta variación en los sujetos vivos. Métodos: La información presente procede directamente de radiogramas del codo hechos a individuos voluntarios. Este estudio se llevó a cabo por un periodo de 3 años, desde el 2005 al 2008. Resultados: Se encontró el espolón en 9 casos entre las 903 personas examinadas. La ocurrencia bilateral del proceso fue más alta que la reportada en la literatura. Los casos con espolón reportaron un dolor ligero en el antebrazo por un periodo largo. Conclusión: Este estudio mostró una ocurrencia más alta del proceso supracondileo bilateral que la reportada anteriormente en la literatura. También sugiere que los casos reportados como asintomáticos pueden no estar totalmente libres de quejas de dolor, las cuales podrían ayudar al médico en su diagnóstico. Palabras claves: Arteria braquial o humeral, nervio medio, nervio mediano, ligamento de Struthers, espolón supracondileo, variació

    Atypical hemolytic uremic syndrome in infancy

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    Ozcakar, Zeynep/0000-0002-6376-9189; Cakar, Nilgun/0000-0002-1853-0101WOS: 000382082600487
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