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Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder believed to be exclusively caused by mutations in the CYP27A1 gene coding for the enzyme sterol 27-hydroxylase. Common findings in CTX are tendon xanthomas, cataracts and progressive neurological dysfunction. Here, we characterize an adult female patient with tendon xanthomas and classic biochemical findings of CTX (i.e. h

A previously described kinetic model for the Calvin cycle and ancillary pathway of starch production in the chloroplast of C3 plants has been extended so that it becomes applicable under physiological conditions where there is a competition between carbon dioxide and oxygen for ribulose-1,5-bisphosphate carboxylase (rubisco). The modified model is shown to account for the observed dependencies of

The mechanisms involved in the down regulation of the exocrine pancreas are still not fully elucidated. The purpose of the present study was to examine the effect of duodenal and ileal exposure to pancreatic enzymes and bile on pancreatic secretion. Experiments were performed with pigs fitted with pancreatic duct, ileal and jugular vein catheters, and duodenal T-shaped cannula. A negative feedback

The middle Cambrian -Furongian transitional interval was a time of significant biotic and environmental changes. Strata of this age in Scania, southern Sweden, contain two interlayered biofacies, a normal one dominated by trilobites and an anomalous one dominated by phosphatocopines (small bivalved arthropods). In places these biofacies are separated by intervals barren of fossils. In a phosphatoc

The problem of analyzing heart rate variability in the presence of ectopic beats is revisited. Based on the integral pulse frequency modulation model and the closely related heart timing signal, a new technique is introduced which corrects for the occasional presence of ectopic beats. The correction technique, which involves the occurrence times of a certain number of beats preceding the ectopic b

Objectives. To find the time-to-peak for creatine kinase MBmass (CKMB) and cardiac troponin T (cTnT) after acute reperfusion, to compare peak and cumulative values to estimate infarct size (IS), and to evaluate clinical routine sampling for assessment of IS. Design. Acute primary percutaneous coronary intervention (PCI) was performed in 38 patients with first-time myocardial infarction. In 21 pati

1. Mice were subjected to gastrectomy (GX) or food deprivation (24 h). The release of insulin and glucagon in response to different secretagogues was monitored in vivo and in isolated islets 3-4 weeks after surgery. 2. GX animals responded to glucose with an impaired glucose tolerance and a poor increase in plasma insulin. Islets from GX or food-deprived mice displayed impaired insulin release to

This study has determined the fracture mechanical properties of 9 types of rock, namely fine-, medium- and coarse-grained granites, gneiss, quartzite, diabase, gabbro, and fine- and coarse-grained limestones. Test results show among other things that quartzite has the highest compressive strength and fracture energy, while diabase has the highest splitting tensile strength and modulus of elasticit

It is crucial for social work education to provide opportunities for students to gain a sincere and genuine knowledge of the conditions of life that are common for their forthcoming clients and patients. Social work students and service users with experiences with multiple social and personal problems now meet, as they are participants in an experimental course at the School of Social Work in Lund

OBJECTIVE--The aim was to study the association between personal factors and physical and psychosocial work environment factors and disorders of the neck or upper limbs among women in the fish processing industry. METHODS--A cross sectional study was performed on 206 women in the fish processing industry and 208 control women. Several physical and psychosocial work environment factors were evaluat

A systematic review of radiation therapy trials in several tumour types was performed by The Swedish Council of Technology Assessment in Health Care (SBU). The procedures for evaluation of the scientific literature are described separately (Acta Oncol 2003; 42: 357-365). This synthesis of the literature on radiation therapy for ovarian cancer is based on data from six randomized trials. Moreover,

Following increased efforts during the last decade to formulate mathematical models for the paper drying process, this paper presents a Modelica library, DryLib, which enables users to rapidly develop complex models of paper machine dryer sections. In addition, parameter optimization, model reduction and moisture control by means of Non-Linear Model Predictive Control is treated. These application

In a warming climate, permafrost is likely to be significantly reduced and eventually disappear from the sub-Arctic region. This will affect people at a range of scales, from locally by slumping of buildings and roads to globally as melting of permafrost will most likely increase the emissions of the powerful greenhouse gas methane, which will further enhance global warming. In order to predict fu

High-dose exposure to inorganic mercury in man can influence the immune system and in rare cases cause immune-related disease. Some experimental animals also react with autoimmunity after low doses of inorganic mercury. Glomerulonephritis and an increased formation of immunoglobulin type E (IgE) are characteristic of these reactions. A recent study of 15-year-old adolescents demonstrated an associ

Knowledge about subjects who sustain hip fractures in middle age is poor. This study prospectively investigated risk factors for hip fracture in middle age and compared risk factors for cervical and trochanteric hip fractures. The Malmo Preventive Project consists of 22,444 men, mean age 44 years, and 10,902 women, mean age 50 years at inclusion. Baseline assessment included multiple examinations