225 research outputs found

    First Record of the Heart Sea Urchins Metalia persica (Coppard, 2008) from the Coral Reef Region, Marine Waters of Iraq

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    In the present article we report a first record of the heart sea urchin Metalia persica (Coppard, 2008) from the recently discovered coral reef in the coastal waters of Iraq. Four specimens of this echinoid were collected by diving during June 2014 and June 2015. This work is a part of larger programme on the identification and some other interesting observations of the macrobenthos living in the coral reef region of Iraq. Keywords: Sea urchin, Metalia persica, coral reef, Iraq, first record

    Biocomposite from polylactic acid and lignocellulosic fibers: structure-property correlations

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    ABSTRACT PLA biocomposites were prepared using three corncob fractions and a wood fiber as reference. The composites were characterized by tensile testing, scanning electron (SEM) and polarization optical (POM) microscopy. Micromechanical deformation processes were followed by acoustic emission measurements. The different strength of the components was proved by direct measurements. Two consecutive micromechanical deformation processes were detected in composites containing the heavy fraction of corncob, which were assigned to the fracture of soft and hard particles, respectively. The fracture of soft particles does not result in the failure of the composites that is initi-ated either by the fracture of hard particles or by matrix cracking. Very large particles debond easily from the matrix resulting in catastrophic failure at very low stresses. At sufficiently large shear stresses large particles break easily during compounding, thus reinforcement depending on interfacial adhesion was practically the same in all composites irrespectively of initial fiber characteristics

    Five Bivalve Species from the Recently Discovered Coral Reef in the Marine Coastal Waters of Iraq

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    In the present report five bivalve species are newly recorded from the recently discovered coral reef in the coastal waters of Iraq, North West Arabian Gulf. The bivalves were inhabit a hard coral substratum as well as sand and mud substrata, at depth ranging from 7-10 m. The region is characterized by high temperature subtropical climate (temperature range: 14-34 C˚). The identified mulluscan bivalves namely Chlamys livida, Pinna bicolor, Malvifundus normalis, Barbatia decussate, and Lithophaga robusta. All the present specimens bivalves were living animals and they classified according to morphological characteristics. Specimens were deposited at the Genetic Legacy Laboratory and Museum of the Marine Science Center/ University of Basrah

    A Neutrosophic Binomial Factorial Theorem with their Refrains

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    The Neutrosophic Precalculus and the Neutrosophic Calculus can be developed in many ways, depending on the types of indeterminacy one has and on the method used to deal with such indeterminacy. This article is innovative since the form of neutrosophic binomial factorial theorem was constructed in addition to its refrains. Two other important theorems were proven with their corollaries, and numerical examples as well. As a conjecture, we use ten (indeterminate) forms in neutrosophic calculus taking an important role in limits. To serve article's aim, some important questions had been answered

    A Neutrosophic Binomial Factorial Theorem with their Refrains

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    The Neutrosophic Precalculus and the Neutrosophic Calculus can be developed in many ways, depending on the types of indeterminacy one has and on the method used to deal with such indeterminacy. This article is innovative since the form of neutrosophic binomial factorial theorem was constructed in addition to its refrains. Two other important theorems were proven with their corollaries, and numerical examples as well. As a conjecture, we use ten (indeterminate) forms in neutrosophic calculus taking an important role in limits. To serve article's aim, some important questions had been answered

    Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

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    BackgroundCohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits.MethodsClinical assessments were performed in order to allow comparison of clinical features with other VPS13B mutations. Homozygosity mapping followed by whole exome sequencing and Sanger sequencing strategies were used to identify disease-related mutations.ResultsWe identified two novel homozygous deletion mutations in VPS13B, firstly a 1 bp deletion, NM_017890.4:c.6879delT; p.Phe2293Leufs*24, and secondly a deletion of exons 37-40, which co-segregate with affected status. In addition to COH1-related traits, autistic features were reported in a number of family members, contrasting with the "friendly" demeanour often associated with COH1. The c.6879delT mutation is present in two families from different regions of the country, but both from the Baloch sub-ethnic group, and with a shared haplotype, indicating a founder effect among the Baloch population.ConclusionWe suspect that the c.6879delT mutation may be a common cause of COH1 and similar phenotypes among the Baloch population. Additionally, most of the individuals with the c.6879delT mutation in these two families also present with autistic like traits, and suggests that this variant may lead to a distinct autistic-like COH1 subgroup

    Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

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    BACKGROUND: Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association remains to be confirmed. A second OGDHL patient cohort was recruited to carefully assess the gene-disease relationship. METHODS: Using an unbiased genotype-first approach, we screened large, multiethnic aggregated sequencing datasets worldwide for biallelic OGDHL variants. We used CRISPR/Cas9 to generate zebrafish knockouts of ogdhl, ogdh paralogs, and dhtkd1 to investigate functional relationships and impact during development. Functional complementation with patient variant transcripts was conducted to systematically assess protein functionality as a readout for pathogenicity. RESULTS: A cohort of 14 individuals from 12 unrelated families exhibited highly variable clinical phenotypes, with the majority of them presenting at least one additional variant, potentially accounting for a blended phenotype and complicating phenotypic understanding. We also uncovered extreme clinical heterogeneity and high allele frequencies, occasionally incompatible with a fully penetrant recessive disorder. Human cDNA of previously described and new variants were tested in an ogdhl zebrafish knockout model, adding functional evidence for variant reclassification. We disclosed evidence of hypomorphic alleles as well as a loss-of-function variant without deleterious effects in zebrafish variant testing also showing discordant familial segregation, challenging the relationship of OGDHL as a conventional Mendelian gene. Going further, we uncovered evidence for a complex compensatory relationship among OGDH, OGDHL, and DHTKD1 isoenzymes that are associated with neurodevelopmental disorders and exhibit complex transcriptional compensation patterns with partial functional redundancy. CONCLUSIONS: Based on the results of genetic, clinical, and functional studies, we formed three hypotheses in which to frame observations: biallelic OGDHL variants lead to a highly variable monogenic disorder, variants in OGDHL are following a complex pattern of inheritance, or they may not be causative at all. Our study further highlights the continuing challenges of assessing the validity of reported disease-gene associations and effects of variants identified in these genes. This is particularly more complicated in making genetic diagnoses based on identification of variants in genes presenting a highly heterogenous phenotype such as "OGDHL-related disorders"

    Global, regional, and national age-sex-specific mortality and life expectancy, 1950–2017: a systematic analysis for the Global Burden of Disease Study 2017

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    Background Assessments of age-specific mortality and life expectancy have been done by the UN Population Division, Department of Economics and Social Affairs (UNPOP), the United States Census Bureau, WHO, and as part of previous iterations of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD). Previous iterations of the GBD used population estimates from UNPOP, which were not derived in a way that was internally consistent with the estimates of the numbers of deaths in the GBD. The present iteration of the GBD, GBD 2017, improves on previous assessments and provides timely estimates of the mortality experience of populations globally. Methods The GBD uses all available data to produce estimates of mortality rates between 1950 and 2017 for 23 age groups, both sexes, and 918 locations, including 195 countries and territories and subnational locations for 16 countries. Data used include vital registration systems, sample registration systems, household surveys (complete birth histories, summary birth histories, sibling histories), censuses (summary birth histories, household deaths), and Demographic Surveillance Sites. In total, this analysis used 8259 data sources. Estimates of the probability of death between birth and the age of 5 years and between ages 15 and 60 years are generated and then input into a model life table system to produce complete life tables for all locations and years. Fatal discontinuities and mortality due to HIV/AIDS are analysed separately and then incorporated into the estimation. We analyse the relationship between age-specific mortality and development status using the Socio-demographic Index, a composite measure based on fertility under the age of 25 years, education, and income. There are four main methodological improvements in GBD 2017 compared with GBD 2016: 622 additional data sources have been incorporated; new estimates of population, generated by the GBD study, are used; statistical methods used in different components of the analysis have been further standardised and improved; and the analysis has been extended backwards in time by two decades to start in 1950.Background Assessments of age-specific mortality and life expectancy have been done by the UN Population Division, Department of Economics and Social Affairs (UNPOP), the United States Census Bureau, WHO, and as part of previous iterations of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD). Previous iterations of the GBD used population estimates from UNPOP, which were not derived in a way that was internally consistent with the estimates of the numbers of deaths in the GBD. The present iteration of the GBD, GBD 2017, improves on previous assessments and provides timely estimates of the mortality experience of populations globally. Methods The GBD uses all available data to produce estimates of mortality rates between 1950 and 2017 for 23 age groups, both sexes, and 918 locations, including 195 countries and territories and subnational locations for 16 countries. Data used include vital registration systems, sample registration systems, household surveys (complete birth histories, summary birth histories, sibling histories), censuses (summary birth histories, household deaths), and Demographic Surveillance Sites. In total, this analysis used 8259 data sources. Estimates of the probability of death between birth and the age of 5 years and between ages 15 and 60 years are generated and then input into a model life table system to produce complete life tables for all locations and years. Fatal discontinuities and mortality due to HIV/AIDS are analysed separately and then incorporated into the estimation. We analyse the relationship between age-specific mortality and development status using the Socio-demographic Index, a composite measure based on fertility under the age of 25 years, education, and income. There are four main methodological improvements in GBD 2017 compared with GBD 2016: 622 additional data sources have been incorporated; new estimates of population, generated by the GBD study, are used; statistical methods used in different components of the analysis have been further standardised and improved; and the analysis has been extended backwards in time by two decades to start in 1950
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