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Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

Many lines of evidence implicate mitochondria in phenotypic variation: ( a) rare mutations in mitochondrial proteins cause metabolic, neurological, and muscular disorders; ( b) alterations in oxidative phosphorylation are characteristic of type 2 diabetes, Parkinson disease, Huntington disease, and other diseases; and ( c) common missense variants in the mitochondrial genome ( mtDNA) have been imp

Angle-resolved photoion yield and resonant Auger spectroscopy for the doubly excited Rydberg states above the C 1s threshold of CO

Doubly excited core-hole states of carbon monoxide in the photon energy region of 300-305 eV, i.e., directly above the C 1s ionization threshold, have been studied using both angle-resolved ion-yield and high-resolution resonant Auger spectroscopies. The leading configurations of the most prominent doubly excited Rydberg states are assigned by careful analysis of the ion-yield spectra and the fina

No association between inhaled corticosteroids and whole body DXA in postmenopausal women.

Purpose Postmenopausal women treated with corticosteroids are regarded as a high-risk group due to the effect of both natural bone loss and possible adverse effects of treatment with inhaled corticosteroids (IC). Objective To compare bone mineral density (BMD) in postmenopausal women exposed only to IC (IC group, n = 106) with that of BMD in women not exposed to corticosteroids (n = 124) and women

High-resolution genomic profiles of breast cancer cell lines assessed by tiling BAC array comparative genomic hybridization.

A BAC-array platform for comparative genomic hybridization was constructed from a library of 32,433 clones providing complete genome coverage, and evaluated by screening for DNA copy number changes in 10 breast cancer cell lines (BT474, MCF7, HCC1937, SK-BR-3, L56Br-C1, ZR-75-1, JIMTI, MDA-MB-231, MDA-MB-361, and HCC2218) and one cell line derived from fibrocystic disease of the breast (MCF10A). T

Estimates of the prevalence and number of Fibromyalgia syndrome patients and their alpha-1 antitrypsin phenotypic distribution in ten countries

Objectives: During the last few years, clinical, epidemiological, and pathological evidence has suggested that inherited alpha-1 antitrypsin [AAT] deficiency might play a role in the development of the fibromyalgia syndrome [FMS], probably because of the loss of AAT anti-inflammatory efficacy. The objective of this study was to estimate the prevalence and number of FMS patients, and their AAT phen

Charcotiana and Amundsenia, two new genera in Teloschistaceae (lichenized Ascomycota, subfamily Xanthorioideae) hosting two new species from continental Antarctica, and Austroplaca frigida, a new name for a continental Antarctic species

Based on a combined three locus analysis two new genera, Charcotiana and Amundsenia, are proposed in the lichen family Teloschistaceae, subfamily Xanthorioideae. Charcotiana includes the new species C. antarctica, which is known only from continental Antarctica. The bipolar genus Amundsenia includes the new species A. austrocontinentalis, which is also known only from continental Antarctica, and t

How much variation in the molt duration of passerines can be explained by the growth rate of tail feathers?

In birds, molt duration is an important trait that can affect plumage functionality and, consequently, the fitness of individuals. However, knowledge about the factors that affect variation in molt speed is sparse, mostly because of the methodological difficulties of studying avian molt. We used a ptilochronology-based approach to estimate the rate at which tail feathers were produced during molt

Long-term patient survival in ANCA-associated vasculitis

Background Wegener's granulomatosis and microscopic polyangiitis are antineutrophil cytoplasm antibodies (ANCA)-associated vasculitides with significant morbidity and mortality. The long-term survival of patients with ANCA associated vasculitis treated with current regimens is uncertain. Objective To describe the long-term patient survival and possible prognostic factors at presentation in an inte

Statistical Analysis of Crests and Maxima in Gaussian Seas

Popular Abstract in Swedish För en god matematisk beskrivning av oregelbundenheten hos verkliga havsvågor måste ett statistiskt synsätt tillämpas. Med tanke på t.ex. design av konstruktionselement i marin teknik är framför allt kännedom om våghöjdens variation, eller med statistisk terminologi, dess fördelning, högst väsentlig. Insamlade mätdata utgör grunden för en realistisk analys; i kombinatioAn important problem in ocean engineering is to find distributions for characteristic wave parameters. For wind-generated water waves at deep water, a Gaussian distribution for the wave-surface elevation is considered a reasonable model. Within the Gaussian assumption, extensions of Rice's formula can be applied to formulate explicit expressions for the distributions in the ergodic, or Palm, sense

Development of Safety-Critical Software Systems Using Open Source Software - A Systematic Map

The popularity of Open Source Software (OSS) has increased the interest in using it in safety critical applications. The aim of this study is to review research carried out on usage of open source code in development of safety-critical software and systems. We conducted a systematic mapping study through searches in library databases and manual identification of articles from open source conferenc

Heterogeneous and Complex Rearrangements of Chromosome Arm 6q in Chondromyxoid Fibroma. Delineation of Breakpoints and Analysis of Candidate Target Genes.

Chondromyxoid fibroma (CMF) is an uncommon benign cartilaginous tumor of bone usually occurring during the second decade of life. CMF is associated with recurrent rearrangements of chromosome bands 6p23-25, 6q12-15, and 6q23-27. To delineate further the role and frequency of the involvement of three candidate regions (6q13, 6q23.3 and 6q24) in the pathogenesis of CMF, we studied a group of 43 case

Overview of the synoptic and pollution situation over Europe during the EUCAARI-LONGREX field campaign

In May 2008 the EUCAARI-LONGREX aircraft field campaign was conducted within the EUCAARI intensive observational period. The campaign aimed at studying the distribution and evolution of air mass properties on a continental scale. Airborne aerosol and trace gas measurements were performed aboard the German DLR Falcon 20 and the British FAAM B.4e-146 aircraft. This paper outlines the meteorological

Antimalarial activity of ruthenium(ii) and osmium(ii) arene complexes with mono- and bidentate chloroquine analogue ligands.

Eight new ruthenium and five new osmium p-cymene half-sandwich complexes have been synthesized, characterized and evaluated for antimalarial activity. All complexes contain ligands that are based on a 4-chloroquinoline framework related to the antimalarial drug chloroquine. Ligands are salicylaldimine derivatives, where = N-(2-((2-hydroxyphenyl)methylimino)ethyl)-7-chloroquinolin-4-amine, and cont

Involvement of neurons and retinoic acid in lymphatic development: new insights in increased nuchal translucency

ObjectiveIncreased nuchal translucency originates from disturbed lymphatic development. Abnormal neural crest cell (NCC) migration may be involved in lymphatic development. Because both neuronal and lymphatic development share retinoic acid (RA) as a common factor, this study investigated the involvement of NCCs and RA in specific steps in lymphatic endothelial cell (LEC) differentiation and nucha

Stochastic differential mixed-effects models

Stochastic differential equations have been shown useful in describing random continuous time processes. Biomedical experiments often imply repeated measurements on a series of experimental units and differences between units can be represented by incorporating random effects into the model. When both system noise and random effects are considered, stochastic differential mixed-effects models ensu

Phase I, Randomized, Double-Blind, Placebo-Controlled, Multiple Intravenous, Dose-Ascending Study of Sirukumab in Cutaneous or Systemic Lupus Erythematosus

ObjectiveWe undertook a 2-part, phase I, double-blind, placebo-controlled study to evaluate the safety and pharmacokinetics of multiple intravenous infusions of sirukumab, a human anti-interleukin-6 monoclonal antibody, in patients with cutaneous lupus erythematosus (CLE) or systemic lupus erythematosus (SLE). MethodsIn part A, patients with histologically confirmed CLE were randomized to 4 infusi

Imatinib after induction for treatment of children and adolescents with Philadelphia-chromosome-positive acute lymphoblastic leukaemia (EsPhALL): a randomised, open-label, intergroup study

Background Trials of imatinib have provided evidence of activity in adults with Philadelphia-chromosome-positive acute lymphoblastic leukaemia (ALL), but the drug's role when given with multidrug chemotherapy to children is unknown. This study assesses the safety and efficacy of oral imatinib in association with a Berlin-Frankfurt-Munster intensive chemotherapy regimen and allo geneic stem-cell tr

The effect of treatment with bisoprolol-first versus enalapril-first on cardiac structure and function in heart failure

Background: In CIBIS III, initiating chronic heart failure (CHF) treatment with bisoprolol (target dose 10 mg q.d.) followed by combination therapy with enalapril (target dose 10 mg b.i.d.), compared to the opposite order, showed similar effects on survival and hospitalization. By echocardiography, we evaluated the effects of these treatment strategies on cardiac structure and function. Methods: I