862 resultados para four-circle diffraction


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We report four patients who presented with a severe form of metaphyseal chondromatosis in association with D-2-hydroxyglutaric aciduria (D-2-HGA). All patients showed splaying columns of irregular ossification defects with bulbous metaphyses of the long tubular bones, as well as remarkable involvement of the short tubular and flat bones. The vertebral bodies revealed platyspondyly with irregular, stippled endplates. D-2-HGA has been described as a neurometabolic disorder manifesting a broad range of impairment in mental and motor development. Although hydroxyglutaric acid was excreted in high amounts in the urine of all four patients described herein, no significant neurologic abnormalities were evident. This unusual combination of characteristic skeletal and metabolic abnormalities has rarely been reported. Thus, our report will facilitate the recognition of this distinctive entity, and we suggest that a urine organic acid screening be obtained in patients who present with generalized enchondromatosis.

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The pathogenesis of androgenetic alopecia (AGA, male-pattern baldness) is driven by androgens, and genetic predisposition is the major prerequisite. Candidate gene and genome-wide association studies have reported that single-nucleotide polymorphisms (SNPs) at eight different genomic loci are associated with AGA development. However, a significant fraction of the overall heritable risk still awaits identification. Furthermore, the understanding of the pathophysiology of AGA is incomplete, and each newly associated locus may provide novel insights into contributing biological pathways. The aim of this study was to identify unknown AGA risk loci by replicating SNPs at the 12 genomic loci that showed suggestive association (5 × 10(-8)<P<10(-5)) with AGA in a recent meta-analysis. We analyzed a replication set comprising 2,759 cases and 2,661 controls of European descent to confirm the association with AGA at these loci. Combined analysis of the replication and the meta-analysis data identified four genome-wide significant risk loci for AGA on chromosomes 2q35, 3q25.1, 5q33.3, and 12p12.1. The strongest association signal was obtained for rs7349332 (P=3.55 × 10(-15)) on chr2q35, which is located intronically in WNT10A. Expression studies in human hair follicle tissue suggest that WNT10A has a functional role in AGA etiology. Thus, our study provides genetic evidence supporting an involvement of WNT signaling in AGA development.

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Excecutive order signed by Governor Thomas Vilsck. Directs the Department of Human Services to comply with all directives from the federal government arising from Hurricane Katrina insofar as those directives concern public welfare programs administered by DHS, declares that any evacuee shall be deemed a resident of the State of Iowa for purposes of obtaining eligibility for the food stamp, family investment and Medicaid programs, and DHS should process applications in an expedited and flexible manner.

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Executive Orders from Governor Hughes. Compact for education.

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Executive Orders from Governor Ray. Establish the Drug Abuse Authority.

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Creates the Govenor's Science Advisory Council.

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Establish the Iowa Commission on the International Year of the Child.

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Establish the Iowa Commission on the International Year of the Child.

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Require state agencies to consider leasing of vacant school buildings.

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Order a 2.8% reduction in appropriations.

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Delegate to the Department of Economic Development the aithority and responsibility vested in the Governor under the JTPA, and create the State Job Training Coordinating Council.

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Provisions of Equal Empolyment Opportunity and Affirmation Action in State government enforced through the Iowa Department of Management.

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Rescinds Executive Order #46 and recommits efforts of the Executive branch and all department directors, member of governing boards and commissions, and other public officers affirmative action, discriminatory harrassment prevention, and cultural diversity.

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Replaces and rescinds Iowa Workforce Executive Order #39. Rescinded by Exectuive Order #62.

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Amends Executive Order #48 only by changing the name from the Iowa Commission for National and Community Service to the Iowa Commission on Volunteer Service.