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Frequent deletion of the CDKN2A locus in chordoma: analysis of chromosomal imbalances using array comparative genomic hybridisation.

The initiating somatic genetic events in chordoma development have not yet been identified. Most cytogenetically investigated chordomas have displayed near-diploid or moderately hypodiploid karyotypes, with several numerical and structural rearrangements. However, no consistent structural chromosome aberration has been reported. This is the first array-based study characterising DNA copy number ch

Radiative lifetime measurements and transition probabilities of astrophysical interest in ErIII

Radiative lifetimes of seven excited states of Er iii have been measured using time-resolved laser-induced fluorescence following two-photon excitation. Relativistic Hartree-Fock calculations taking core-polarization effects into account are found to be in excellent agreement with the experimental results. A large set of new calculated transition probabilities is presented for many transitions of

Prognostic value of cell adhesion in esophageal adenocarcinomas.

Increased understanding of the molecular processes associated with the dysplasia-adenocarcinoma sequence linked to Barrett's esophagus may be beneficial for early tumor detection and refined diagnosis as well as for improved prognostication. We applied immunohistochemical staining for the markers Ki-67, p53, beta-catenin and E-cadherin in order to evaluate their prognostic importance in 59 Barrett

Comprehensive CT Evaluation in Acute Ischemic Stroke: Impact on Diagnosis and Treatment Decisions.

Background. With modern CT imaging a comprehensive overview of cerebral macro- and microcirculation can be obtained within minutes in acute ischemic stroke. This opens for patient stratification and individualized treatment. Methods. Four patients with acute ischemic stroke of different aetiologies and/or treatments were chosen for illustration of the comprehensive CT protocol and its value in sub

An open access technique to create pneumoperitoneum in laparoscopic surgery.

BACKGROUND: An open access technique might reduce severe vascular and visceral injuries. An open access technique through the umbilical cicatrix tube has been developed as a routine method with the goal to be easy, safe and used by all surgeons in patients without a previous midline incision. AIM: To evaluate the open technique in a prospective study in 100 consecutive laparoscopic operations rega

CFD Approach to Analyze Transport Phenomena Coupled Chemical Reactions Relevant for Methane Reformers

Various transport phenomena in conjunction with chemical reactions are strongly affected by reformer configurations and the properties of the involved porous catalyst layers. The considered composite duct is relevant for a methane steam reformer and consists of a porous layer for the catalytic chemical reactions, the fuel gas flow duct and the solid plate. In this paper, a fully three-dimensional

Factor H dysfunction in patients with atypical hemolytic uremic syndrome contributes to complement deposition on platelets and their activation.

Atypical hemolytic uremic syndrome (aHUS) may be associated with mutations at the C-terminal of factor H (FH). FH binds to platelets via the C-terminal as previously shown using a construct consisting of short consensus repeats (SCRs) 15-20. Four FH mutations, in SCR15 (C870R) and SCR20 (V1168E, E1198K, E1198Stop) in aHUS patients, were studied regarding their ability to allow complement activatio

Antibody formation and specificity in Bethesda-negative brother pairs with haemophilia A.

Antibodies directed towards non-neutralizing epitopes on the factor VIII protein (FVIII) may be detected in patients with haemophilia A. We evaluated the prevalence of non-neutralizing antibodies, in 201 inhibitor-negative brother pairs with severe haemophilia A, enrolled in the Malmö International Brother Study and the Haemophilia Inhibitor Genetics Study. To evaluate binding specificity of the a

Calcium binding and thermostability of carbohydrate binding module CBM4-2 of Xyn10A from Rhodothermus marinus.

Calcium binding to carbohydrate binding module CBM4-2 of xylanase 10A (Xyn10A) from Rhodothermus marinus was explored using calorimetry, NMR, fluorescence, and absorbance spectroscopy. CBM4-2 binds two calcium ions, one with moderate affinity and one with extremely high affinity. The moderate-affinity site has an association constant of (1.3 +/- 0.3) x 10(5) M(-1) and a binding enthalpy DeltaH(a)

Reproductive hormones in plasma over the menstrual cycle in primary dysmenorrhea compared with healthy subjects.

The pathogenesis of primary dysmenorrhea is still poorly understood. The objective of the present investigation was to study differences in plasma concentrations of reproductive hormones in women with primary dysmenorrhea vs. healthy controls. In a prospective, parallel-group study we determined the plasma concentrations of oxytocin, vasopressin, follicle-stimulating hormone (FSH), luteinizing hor

Third Åland islands conference on von Willebrand disease, 26-28 September 2012: meeting report.

The first meeting of international specialists in the field of von Willebrand disease (VWD) was held in the Åland islands in 1998 where Erik von Willebrand had first observed a bleeding disorder in some members of a family from Föglö and a summary of the meeting was published in 1999. The second meeting was held in 2010 and a report of the meeting was published in 2012. Topics covered included pro

Sympathetic Nerve Dysfunction is Common in Patients With Chronic Intestinal Pseudo-obstruction.

GOAL: To clarify whether disturbances in the autonomic nervous system, reflected in abnormal cardiovascular reflexes, could explain symptoms of impaired heat regulation in patients with intestinal pseudo-obstruction. BACKGROUND: Chronic intestinal pseudo-obstruction is a clinical syndrome characterized by diffuse, unspecific gastrointestinal symptoms due to damage to the enteric nervous system or

Identification of Covalent Binding Sites of Phthalic Anhydride in Human Hemoglobin.

Phthalic anhydride (PA) is a reactive low molecular weight compound used in the chemical industry. The exposure of PA may lead to work-related airway diseases such as rhinitis, chronic bronchitis, and asthma. The exposure gives rise to an increase in hapten-specific IgG antibodies in workers but with a low presence of specific IgE antibodies. In this study, the binding of PA to human hemoglobin (H

Trends in delivery and neonatal outcome after in vitro fertilization in Sweden: data for 25 years.

BACKGROUND Marked changes have occurred in in vitro fertilization (IVF) methodology during the past 25 years but also in characteristics of couples undergoing treatment. METHODS This study was based on 27 386 women undergoing IVF treatment from 1982 to 2006 and giving birth to 31 850 infants. Outcomes of deliveries were studied using Swedish health registers. Comparisons were made with all deliver

Postpartum thromboembolism: severe events might be preventable using a new risk score model.

BACKGROUND: Pregnancy-related venous thromboembolism (VTE) is a major cause of maternal morbidity and mortality. A new risk assessment model for VTE in relation to pregnancy has been introduced in Sweden. We wished to determine the proportion of preventable VTE cases if the model had been in use and make a brief cost-benefit analysis. METHODS: A hospital-based retrospective case-control study of a

Human Variome Project Quality Assessment Criteria for Variation Databases.

Numerous databases containing information about DNA, RNA and protein variations are available. Gene-specific variant databases (locus specific variation databases, LSDBs) are typically curated and maintained for single genes or groups of genes for a certain disease(s). These databases are widely considered as the most reliable information source for a particular gene/protein/disease, but it should