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Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease (HSCR). Mutations in the endothelin-B receptor (EDNRB) gene on 13q22 have been found to cause this syndrome. Mutations in both alleles cause the full phenotype,

The aim was to describe what parents and staff think about child health care, to identify agreements and disagreements. A qualitative study was made with semi-structured interviews based on a phenomenographic approach. Sixty parents, 14 nurses and six doctors from southern Sweden were interviewed. Parents and staff emphasized two tasks as being of particular importance: support and check-ups. Ther

Purpose of review: The purpose of this review is to present an update on the evidence-based effects of exercise in systemic lupus erythematosus and in primary Sjögren's syndrome. Recent findings: Physical capacity is reduced in both systemic lupus erythematosus and primary Sjögren's syndrome and fatigue is a dominating and disabling symptom in both conditions. The documentation on the effect of e

Objectives: The aim of this study was to establish wild-type MIC distributions of first-line drugs for Mycobacterium tuberculosis, as well as to explore the usefulness of such distributions when setting clinical breakpoints. Methods: We determined the MICs of rifampicin, isonlazid and ethambutol for M. tuberculosis using a Middlebrook 7H10 dilution method for 90 consecutive clinical isolates, 8 re

Poststernotomy mediastinitis, also commonly called deep sternal wound infection, is one of the most feared complications in patients undergoing cardiac surgery. The overall incidence of poststernotomy mediastinitis is relatively low, between 1% and 3%, however, this complication is associated with a significant mortality, usually reported to vary between 10% and 25%. At the present time, there is

Mass transport in pervaporation of multi-component mixtures of homologous series of alcohols and esters through composite pervaporation membranes has been investigated. Pervaporation experiments were performed in a concentration range relevant for aroma recovery, using a membrane with an active layer of poly (octyl) methylsiloxane (POMS) caste on a porous polyetherimide (PEI) support. The fluxes,

BACKGROUND: Most cardioplegic solutions have been developed using the classic Langendorf heart perfusion model, which only allows a short experimental follow-up. Our aim was to investigate hearts after prolonged storage by using a physiologic model including prolonged perfusion with normal, fresh blood. METHODS: Sixteen hearts from 60-kg pigs were preserved with dextran-enriched (dextran-40, 35 g/

The implementation of the Biofuels Directive (2003/30/EC) in 25 member states is assessed here. Implementation problems are identified and analysed for the purpose of suggesting a way forward for biofuels policy in the European Union. Three main patterns are observed: effective implementation, formal compliance and weak implementation. Problems encountered in the policy process are both of a pract

The Tyrone Central Inlier is a metamorphic terrane of uncertain affinity situated outboard of the main Dalradian outcrop (south of the Fair Head-Clew Bay Line) and could represent sub-arc basement to part of the enigmatic Midland Valley Terrane. Using a combination of isotopic, structural and petrographic evidence, the tectonothermal evolution of the Tyrone Central Inlier was investigated. Sillima

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Small bowel carcinoid tumor (SBC) is a rare disease of unknown etiology bill with all age-, sex-, and place-specific occurrence that may indicate an occupational origin. A European multicenter population-based case-control study was conducted from 1995 through 1997. Incident SBC cases between 35 and 69 years of age (n = 101) were identified, together with 3335 controls sampled from the catchment a

Atherosclerosis develops as a result of a chronic arterial inflammation and intimal Fibrosis. The disease represents in many respects a vascular repair process activated in response to injury caused by toxic breakdown products of aggregated and oxidized lipoproteins. The initial response of the artery involves expression of adhesion molecules and recruitment of leukocytes. Degenerated lipoproteins

Due to its unique ability to split water, Photosystem II (PSII) is easily accessible to oxidative damage. Photoinhibited PSII centres diffuse laterally from the grana core region of the thylakoid membrane to the stroma lamellae in order to allow replacement of damaged proteins and cofactors. The 'new born' PSII centres in this region are characterized by the absence of the water splitting capacity