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dup(19)(q12q13.2): Array-based Genotype-Phenotype Correlation of a New Possibly Obesity-related Syndrome.

Small supernumerary marker chromosomes (sSMCs) derived from the near-centromeric area of chromosome 2 are very rare. In addition, duplications of the 2p11.2-->q11.2 region have displayed considerable variability between patients harboring and lacking clinical findings. Moreover, constitutional duplication of the 19q12-->q13.2 region has previously only been described in two cases and was associate

Acoustic Whole Blood Plasmapheresis Chip for Prostate Specific Antigen Microarray Diagnostics.

The generation of high quality plasma from whole blood is of major interest for many biomedical analyses and clinical diagnostic methods. However, it has proven to be a major challenge to make use of microfluidic separation devices to process fluids with high cell content, such as whole blood. Here, we report on an acoustophoresis based separation chip that prepares diagnostic plasma from whole bl

The Impact of Tax Reforms Designed to Encourage Healthier Grain Consumption

In this paper, we simulate the effects of tax reforms aimed at encouraging healthier grain consumption. We use a rich data set on household grain consumption in 2003 from the market research institute GfK Sweden, combined with information on the nutritional content of the consumption. We estimate behavioral parameters, which are used to simulate the impact on the average household of tax reforms e

The type 1 diabetes protective HLA DQB1*0602 allele is less frequent in gestational diabetes mellitus.

AIMS/HYPOTHESIS: We tested whether gestational diabetes mellitus (GDM) is associated with HLA-DQ genotypes. METHODS: A total of 764 mothers with non-autoimmune (GAD65, insulinoma-associated protein 2 [IA-2] and insulin autoantibody-negative) GDM were ascertained between September 2000 and August 2004 in the population-based Diabetes Prediction in Skåne (DiPiS) study. HLA-DQB1 genotypes were determ

Proteome-based biomarkers in pancreatic cancer.

Pancreatic cancer, as a highly malignant cancer and the fourth cause of cancer-related death in world, is characterized by dismal prognosis, due to rapid disease progression, highly invasive tumour phenotype, and resistance to chemotherapy. Despite significant advances in treatment of the disease during the past decade, the survival rate is little improved. A contributory factor to the poor outcom

Analyticity and Possible-World Semantics

The aim of this paper is to consider how the notion of analyticity can be dealt with in model-theoretical terms. Standard approaches to possible-world semantics allow us to define necessity and logical truth, but analyticity is considerably more difficult to account for. To explain this difficulty, we first provide a simplified sketch of possible-world semantics. After defining necessity and logic

Ecological Economics and Transport Systems

Ecological economics is an emerging field that offers significant room for creativity and innovation at the conceptual level on how to operationalize sustainability. It integrates economics with ecology and many elements from both the natural and social sciences to provide an integrated perspective on environment-economy interactions. A major policy dilemma that ecological economics addresses is h

Individual and collective bodies: using measures of variance and association in contextual epidemiology.

BACKGROUND: Social epidemiology investigates both individuals and their collectives. While the limits that define the individual bodies are very apparent, the collective body's geographical or cultural limits (e.g., "neighbourhood") are more difficult to discern. Also, epidemiologists normally investigate causation as changes in group means. However, many variables of interest in epidemiology may

Short-term effects of selenium supplementation of cows' feed on the content and distribution of selenium, copper and zinc in bovine milk, whey and blood plasma.

The effect of selenium supplementation of feed on the Se content in bovine milk, whey and plasma, and on the distribution of Se, Zn and Cu in whey and plasma was investigated. In a cross-over study two groups of cows were given a basal feed with 0.16 ppm selenite (approx. 3 mg Se/d) with or without 25 mg yeast Se/d for 2 weeks. In the supplemented group the Se content increased 10-fold in milk, 10

Inconclusive Evidence for or against Positive Antigen Selection in the Shaping of Human Immunoglobulin E Repertoires: A Call for New Approaches.

The mechanisms driving the development of immunoglobulin E (IgE) antibody repertoires are a matter of debate. Alternatives to the classical view on antibody development, involving somatic mutation and antigen-driven selection of high-affinity variants in germinal centers, have been proposed. Methods: We have re-analyzed the pattern of mutations in previously isolated and characterized human clonal

Hemophilia and prophylaxis.

Clinical experience over decades and numerous retrospective and, recently, also prospective studies clearly demonstrate that prophylactic treatment, albeit much more expensive, is superior to on-demand treatment regardless of whether the outcome is number of joint- or life-threatening bleeds or arthropathy optimal prophylactic treatment should be started early (primary prophylaxis) but various opi

Temporal coherence of ultrashort high-order harmonic pulses

We have studied the temporal coherence of high-order harmonics (up to the 15th order) produced by focusing 100 fs laser pulses into an argon gas jet. We measure the visibility of the interference fringes, produced when two spatially separated harmonic sources interfere in the far field, as a function of the time delay between the two sources. In general, we find long coherence times, comparable to

Senescence rates in patients with end-stage renal disease: a critical appraisal of the Gompertz model.

The most frequently used model to describe the exponential increase in mortality rate over age is the Gompertz equation. Logarithmically transformed, the equation conforms to a straight line, of which the slope has been interpreted as the rate of senescence. Earlier, we proposed the derivative function of the Gompertz equation as a superior descriptor of senescence rate. Here, we tested both measu

Mapping of the factor Xa-binding site on factor Va by site-directed mutagenesis.

Activated coagulation factor V functions as a cofactor to factor Xa in the conversion of prothrombin to thrombin. Based on introduction of extra carbohydrate side chains in recombinant factor V, we recently proposed several regions in factor Va to be important for factor Xa binding. To further define which residues are important for factor Xa binding, we prepared fifteen recombinant factor V varia

High-frequency ultrasound in the evaluation of cerebral intraventricular haemorrhage in preterm rabbit pups.

Cerebral intraventricular haemorrhage (IVH) is the most common cause of severe neurologic impairment following preterm birth in human infants. Ideally, an animal model for cerebral IVH should allow for reliable noninvasive evaluation of haemorrhagic extension and of subsequent development of posthaemorrhagic ventricular dilatation (PHVD). The aim of this study was to evaluate the use of high-frequ

Neuromodulation for pain.

The role of implantable neuromodulation systems and spinal cord stimulation in the management of pain is described. Recommendations of the American Society of Anesthesiologists Task Force on Chronic Pain Management and the American Society of Regional Anesthesia and Pain Medicine as they relate to spinal cord stimulation are discussed. This feature is adapted from paineurope 2012; Issue 1, ©Haymar

Coronary flow before and after surgical versus device closure of atrial septal defect.

BACKGROUND: Cardiopulmonary bypass (CPB) affects coronary flow after the operation. Surgical as compared to device closure of atrial septal defect (ASD) serves as a good model to clarify the effects of surgery with CPB on coronary flow. METHODS: Coronary flow parameters were determined by transthoracic Doppler echocardiography before and after ASD closure. Thirteen children underwent surgery on CP