502 research outputs found

    Changes in precipitation and river flow in northeast Turkey: associations with the North Atlantic Oscillation

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    This paper explores the relationships between the North Atlantic Oscillation (NAO) index and precipitation and river flow over northeast Turkey. Precipitation totals and maximum, mean and minimum river flow are analysed at the seasonal scale for 12 and 10 stations, respectively. Pearson’s and Mann-Kendall correlation tests are applied to assess relationships between the NAO index and precipitation and river flow metrics, and to detect trends in time-series. Autumn precipitation totals display significant increasing trends, especially for coastal stations, while inland stations show significant increasing trends for spring precipitation. Minimum and maximum river flow decreases significantly for spring and summer. This tendency implies varying conditions towards a drier regime. Seasonal precipitation patterns show a negative association with the NAO for December–January–February (DJF), March–April–May (MAM) and September–October–November (SON) for some stations. Positive associations between the NAO and winter-extended winter (December–March) river flows are detected for some stations in northeast Turkey

    Maternal nutritional status in pastoral versus farming communities of West Pokot, Kenya: differences in iron and vitamin A status and body composition

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    BACKGROUND: Underweight and micronutrient deficiencies are sequelae of the prevailing harsh living and economic conditions of women in sub-Saharan Africa. There are few data describing maternal nutritional status in these resource-poor settings. Provision of more effective modes of intervention requires that public health and nutrition policy at both the national and the multisectoral levels be based on community-specific nutritional and behavioral practices. OBJECTIVE: This longitudinal study investigated maternal micronutrient status in two remote, semiarid, rural communities that are ethnically similar but have distinctly different pastoral and farming lifestyles. We looked at differences in iron stores, vitamin A levels, and body composition of women in the third trimester of pregnancy and again at 4 months postpartum. METHODS: Complete data were collected from 113 pastoral and 110 farming Pokot women. Anthropometric measurements were taken, and serum ferritin and retinol levels were measured. Infants were weighed within 7 days of birth. RESULTS: Women from the farming community had significantly (p < .05) lower hemoglobin concentrations than women from the pastoral community during the third trimester of pregnancy. Pastoral women had significantly higher serum ferritin concentrations than farming women during the third trimester of pregnancy (p <.05) and at 4 months postpartum. There were no significant differences between pastoral and farming women in the percentage of women with serum retinol levels < 0.70 micromol/L during the third trimester of pregnancy (27.9% [34/113] and 24.2% [31/110], respectively) and at 4 months postpartum (29.2% [33/113] and 30.9% [34/110]) In the farming community, mean infant birthweight was significantly lower (p <. 01) than in the pastoral community and a significantly higher (p < .05) proportion of newborns weighed less than 2.5 kg. At 4 months postpartum, the percentage of body fat was significantly lower in pastoral women than in farming women. CONCLUSIONS: Women from the farming community in West Pokot, Kenya, have lower iron stores during the third trimester of pregnancy than women in the pastoral community. In addition, the mean weight of their newborn infants is lower than that of infants in the pastoral community. These findings may be associated with differences in living conditions, which are usually harsher in farming than in pastoral communities. AD - Department of Epidemiology and Nutrition, School of Public Health, Moi University, Eldoret, Kenya. [email protected]

    Structural study of GaSb/AlSb strained-layer superlattice

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    Owing to the lattice mismatch between GaSb and AlSb, a superlattice consisting of alternating layers of these materials will be strained. We have carried out ion-channeling measurements by backscattering of 1.76-MeV He ions, and present an experimental procedure and a data-analysis technique to measure the difference in strain between the two individual layers of the superlattice. The data analysis is based on computer simulations of channeling, the accuracy of which is supported by the many fine details of the experiments reproduced in the simulations. X-ray rocking-curve analysis yielded detailed profiles of strains in directions perpendicular and parallel to the surface. The x-ray value for the strain present at an unirradiated spot on the crystal is in excellent agreement with the value calculated by elasticity theory. In the bombarded region, the values of strain are less than the value calculated by elasticity theory. It appears that bombardment by the He ions reduced the strain by 50% and created lateral inhomogeneities in the crystal structure

    Clustering of adherence to personalised dietary recommendations and changes in healthy eating index within the Food4Me study

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    Objective: To characterise clusters of individuals based on adherence to dietary recommendations and to determine whether changes in Healthy Eating Index (HEI) scores in response to a personalised nutrition (PN) intervention varied between clusters. Design: Food4Me study participants were clustered according to whether their baseline dietary intakes met European dietary recommendations. Changes in HEI scores between baseline and month 6 were compared between clusters and stratified by whether individuals received generalised or PN advice. Setting: Pan-European, Internet-based, 6-month randomised controlled trial. Subjects: Adults aged 18–79 years (n1480). Results: Individuals in cluster 1 (C1) met all recommended intakes except for red meat, those in cluster 2 (C2) met two recommendations, and those in cluster 3 (C3) and cluster 4 (C4) met one recommendation each. C1 had higher intakes of white fish, beans and lentils and low-fat dairy products and lower percentage energy intake from SFA (P<0·05). C2 consumed less chips and pizza and fried foods than C3 and C4 (P<0·05). C1 were lighter, had lower BMI and waist circumference than C3 and were more physically active than C4 (P<0·05). More individuals in C4 were smokers and wanted to lose weight than in C1 (P<0·05). Individuals who received PN advice in C4 reported greater improvements in HEI compared with C3 and C1 (P<0·05). Conclusions: The cluster where the fewest recommendations were met (C4) reported greater improvements in HEI following a 6-month trial of PN whereas there was no difference between clusters for those randomised to the Control, non-personalised dietary intervention

    Disruption of tuftelin 1, a desmosome associated protein, causes skin fragility, woolly hair and palmoplantar keratoderma

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    Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss of function variants in desmosomal genes lead to a variety of skin and heart related phenotypes. Here, we report tuftelin 1 as a desmosome-associated protein, implicated in epidermal integrity. In two siblings with mild skin fragility, woolly hair and mild palmoplantar keratoderma, but without a cardiac phenotype, we identified a homozygous splice site variant in the TUFT1 gene, leading to aberrant mRNA splicing and loss of tuftelin 1 protein. Patients' skin and keratinocytes showed acantholysis, perinuclear retraction of intermediate filaments, and reduced mechanical stress resistance. Immunolabeling and transfection studies showed that tuftelin 1 is positioned within the desmosome and its location dependent on the presence of the desmoplakin carboxy-terminal tail. A Tuft1 knock-out mouse model mimicked the patients' phenotypes. Altogether, this study reveals tuftelin 1 as a desmosome-associated protein, whose absence causes skin fragility, woolly hair and palmoplantar keratoderma.</p

    Next-generation sequencing-based genome diagnostics across clinical genetics centers: Implementation choices and their effects

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    Implementation of next-generation DNA sequencing (NGS) technology into routine diagnostic genome care requires strategic choices. Instead of theoretical discussions on the consequences of such choices, we compared NGS-based diagnostic practices in eight clinical genetic centers in the Netherlands, based on genetic testing of nine pre-selected patients with cardiomyopathy. We highlight critical implementation choices, including the specific contributions of laboratory and medical specialists, bioinformaticians and researchers to diagnostic genome care, and how these affect interpretation and reporting of variants. Reported pathogenic mutations were consistent for all but one patient. Of the two centers that were inconsistent in their diagnosis, one reported to have found 'no causal variant', thereby underdiagnosing this patient. The other provided an alternative diagnosis, identifying another variant as causal than the other centers. Ethical and legal analysis showed that informed consent procedures in all centers were generally adequate for diagnostic NGS applications that target a limited set of genes, but not for exome- and genome-based diagnosis. We propose changes to further improve and align these procedures, taking into account the blurring boundary between diagnostics and research, and specific counseling options for exome- and genome-based diagnostics. We conclude that alternative diagnoses may infer a certain level of 'greediness' to come to a positive diagnosis in interpreting sequencing results. Moreover, there is an increasing interdependence of clinic, diagnostics and research departments for comprehensive diagnostic genome care. Therefore, we invite clinical geneticists, physicians, researchers, bioinformatics experts and patients to reconsider their role and position in future diagnostic genome care
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