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The BRCA1 syndrome and other inherited breast or breast-ovarian cancers in a Norwegian prospective series

Inherited breast cancer is a heterogenous group of diseases. We examined this heterogeneity in a prospective series of inherited breast and ovarian cancers, previously demonstrated to include 84% of inherited cancers. Ninety-two tumours (65 breast and 27 ovarian) in 82 patients from 70 kindreds were prospectively diagnosed. Fifteen of the breast cancers were in situ, 50 were infiltrating. 40 (49%)

Clinical Variability of Waardenburg-Shah Syndrome in Patients With Proximal 13q Deletion Syndrome Including the Endothelin-B Receptor Locus

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,

Corelease and differential exit via the fusion pore of GABA, serotonin, and ATP from LDCV in rat pancreatic beta cells

The release gamma-aminobutyric acid (GABA) and ATP from rat beta cells was monitored using an electrophysiological assay based on overexpression GABAA or P2X2 receptor ion channels. Exocytosis of LDCVs, detected by carbon fiber amperometry of serotonin, correlated strongly (similar to 80%) with ATP release. The increase in membrane capacitance per ATP release event was 3.4 fF, close to the expecte

Roles of hematopoietin and cytokine tyrosine kinase receptors in early lymphopoiesis

Cytokines have been shown to have important roles in lymphopoiesis. However, many questions remain unresolved. Among other, while the action of interleukin (IL)-7 in alpha beta T cell development in mouse seems to be largely mediated through permissive survival signaling, the possible permissive role of IL-7 in early B cell development is disputed. Furthermore, FMS-like tyrosine kinase-3 ligand (F

Studies on a serine peptidase inhibitor locus on human chromosome 20 Characterization of novel genes encoding proteins with WFDC and kunitz domains

An unlimited number of proteolytic reactions are carried out by enzymes in biological systems. These enzymes are a necessity of life, but they can also be dangerous if they are not controlled. Protease inhibitors regulate proteolytic enzymes by interacting and forming complexes with them, thereby preventing the substrate from gaining access to the active site of the enzyme. We have recently identi

Glucose-sensing mechanisms in pancreatic beta-cells

The appropriate secretion of insulin from pancreatic beta-cells is critically important to the maintenance of energy homeostasis. The beta-cells must sense and respond suitably to postprandial increases of blood glucose, and perturbation of glucose-sensing in these cells can lead to hypoglycaemia or hyperglycaemias and ultimately diabetes. Here, we review beta-cell glucose-sensing with a particula

Geographical pattern of female deaths from myocardial infarction in an urban population: fatal outcome out-of-hospital related to socio-economic deprivation

OBJECTIVE: This study of myocardial infarction (MI) amongst urban women has sought to assess whether there are differences in fatal outcome, in-hospital respectively out-of-hospital, between residential areas defined in terms of socio-economic circumstances. DESIGN: Register-based surveillance study 1986-95. SETTING: Seventeen residential areas in the city of Malmo, Sweden. SUBJECTS: Women 20-74 y

Lack of Reactive Oxygen Species Breaks T Cell Tolerance to Collagen Type II and Allows Development of Arthritis in Mice.

The view on reactive oxygen species (ROS) in inflammation is currently shifting from being considered damaging toward having a more complex role in regulating inflammatory reactions. We recently demonstrated a role of ROS in regulation of animal models for the autoimmune disease rheumatoid arthritis. Low levels of ROS production, due to a mutation in the Ncf1 gene coding for the Ncf1 (alias p47pho

Fixation of infrarenal aortic stent-grafts using laparoscopic banding -- an experimental study in pigs

PURPOSE: to test whether a laparoscopically-placed external band around the infrarenal aorta could stop vessel dilatation and prevent stent-graft detachment from the aortic wall. METHODS: in 13 growing pigs Gianturco-based stent-grafts were placed in the infrarenal aorta. In eight pigs, an external PTFE band (1 cm width) was placed laparoscopically around the infrarenal aorta. The remaining five p

Increasing the degree of automation in a production system: Consequences for the physical workload

In spite of the continuous development of production systems work-related musculoskeletal disorders is still a large problem. One reason might be the difficulties in quantifying the ergonomic effects of interventions. In this paper ergonomic consequences of technical and organisational changes were quantified in a plant for producing slats for parquet flooring. Muscle activity, work postures and m

Value Dimensions, Meaning, and Complexity in Human Occupation – A Tentative Structure for Analysis.

In occupational therapy and occupational science, it is important to clarify the perspective from which the analysis of occupation is addressed. The purpose of this paper is to present a tentative structure for describing occupation, allowing for analysis in a lifelong panorama as well as for the immediate experience a person acquires from performing a single occupation. The concept of occupationa

High spectral resolution solar absorption measurements of ethylene (C2H4) in a forest fire smoke plume using HITRAN parameters: Tropospheric vertical profile retrieval

The tropospheric mixing ratio profile of ethylene (C2H4) has been retrieved from a high spectral resolution ground-based infrared solar absorption spectrum. The spectrum was recorded during intense fires in New South Wales, Australia on January 1, 2002, and was analyzed with the C2H4 spectral parameters added to the 2000 HITRAN compilation. Absorption by C2H4 in the smoke-affected spectrum extends

Translational perspectives on MSMB and CRISP3 expression and regulation in prostate cancer

Popular Abstract in Swedish Prostatacancer är en mycket vanlig form av cancer, och det har visats att cirka hälften av alla män över 70 år har tumör i prostata. Prostatacancer är ofta en latent form av cancer, vilket innebär att den sällan ger kliniska symtom förrän i ett framskridet stadium. Sedan PSA testet började användas på 90-talet har antalet diagnostiserade fall av prostatacancer blivit alProstate cancer is currently the most common form of cancer in Sweden. Currently, the only biomarker used in the clinic is serum PSA, and there is a great need for new biomarkers that may increase the diagnostic and prognostic information so that better predictions can be made, and treatment may be tailored. Here, we have investigated two proposed biomarkers microseminoprotein-β (MSMB) and cystein

Housing matters in very old age - yet differently due to ADL dependence level differences.

In order to support the development of optimal housing options for older people, we need to increase our understanding of relations between aspects of housing and aspects of health in old and very old age. The objective of this cross-sectional study was to explore whether and how aspects of housing are related to life satisfaction and perceived health among very old, single-living Swedish people.

Postoperative on-line monitoring with intraperitoneal microdialysis is a sensitive clinical method for measuring increased anaerobic metabolism that correlates to the cytokine response

Background: Visceral ischaemia and cytokine release are early stages in the development of shock and multiorgan failure. Because of lack of methods to measure anaerobic metabolism or visceral hypoxia in the early phase, diagnosis is not usually established until shock and organ failure are evident. Methods: Nineteen patients were studied postoperatively after major abdominal gastrointestinal surge

Extracorporeal whole-blood immunoadsorption enhances radioimmunotargeting of iodine-125-labeled BR96-biotin monoclonal antibody

This study investigates the efficacy of tumor radioimmunotargeting with 125I-labeled BR96-biotin monoclonal antibody using a new method, whole-blood immunoadsorption (WBIA), based on direct adsorption of unbound monoclonal antibody (MAb) from blood without preceding separation of plasma. METHODS: Highly tumor-reactive, internalizing, chimeric BR96 MAb of isotype IgG1 binds to a tumor-associated Le