The aim of this article is to review the national regulations and practices of genetic counselling in 38 European countries, and to examine how well they intersect the ideals of genetic counselling defined in international guidelines. Using an electronic survey, representatives of the National Societies of Human Genetics in 29 countries, and appropriate contact persons for the field of genetic cou

Background: Propionic and butyric acids are important nutrients for the mucosal cells and may therefore increase the nutritional status and reduce the permeability of the colonic mucosa. These acids have also been suggested to counteract diseases in the colon, e.g. ulcerative colitis and colon cancer. Different substrates lead to different amounts and patterns of carboxylic acids (CAs). Objectiv

We tested the reliability and construct validity of the Compatible magnetic resonance imaging (MRI) scale for the evaluation of haemophilic knees and ankles and compared the diagnostic performance of MRI and plain film radiographs. Sagittal and coronal gradient-echo 1.5-T MR images of knees (n = 22) and ankles (n = 23) were obtained from boys (age range 4-16 years; mean 11 years) in two centres (T

Xylose-utilising yeasts were screened to identify strains with high xylose transport capacity. Among the fastest-growing strains in xylose medium, Candida intermedia PYCC 4715 showed the highest xylose transport capacity. Maximal specific growth rate was the same in glucose and xylose media (small mu, Greekmax=0.5 h−1, 30°C). Xylose transport showed biphasic kinetics when cells were grown in eithe

Purpose: Several scoring systems have been developed to distinguish between benign and malignant adnexal tumors. However, few of them have been externally validated in new populations. Our aim was to compare their performance on a prospectively collected large multicenter data set. Experimental Design: In phase I of the International Ovarian Tumor Analysis multicenter study, patients with a persis

The functional role of the GGN repeat in the human androgen receptor gene is unknown, although mutations in this region have been found in patients with inter-sex conditions. We have investigated the prevalence of GGN mutations in the androgen receptor in the Swedish population and their relation to male reproductive function. A physical examination and semen analysis was carried out in 223 men un

Objectives. We analyzed the relationship between macroeconomic conditions, measured as unemployment rate and social security spending, from 4 social security schemes and total spending due to sickness and disability. Methods. We obtained aggregated panel data from 13 Organization for Economic Cooperation and Development member countries for 1980-1996. We used regression analysis and fixed effect m

Objectives This study investigated the association between cancer of the extrahepatic biliary tract and exposure to endocrine-disrupting compounds. Methods Altogether 183 men with histologically confirmed carcinoma of the extrahepatic biliary tract and 1938 matched controls were interviewed between 1995 and 1997 in the frame of an international multicenter case-control study in six European countr

In the manufacture of heat-exchangers, it is of great importance that the heat-exchanger plates be thoroughly cleaned before being sealed. At a Swedish heat-exchanger manufacturer, oil, grease and other impurities are removed in a washing plant consisting of three stages: a degreasing tank and two rinsing tanks. The possibility of improving the cleanliness of the heat-exchanger plates, without inc

PURPOSE: Hypomotor seizures (characterized by diminished behavioral activity with indeterminate level of consciousness) have been identified as an important seizure type in infants. Our goal was to investigate further the clinical and EEG features of hypomotor seizures. METHODS: We retrospectively reviewed 110 hypomotor seizures from 34 patients recorded with video-EEG. RESULTS: Twenty-seven (79%)

Malondialdehyde, reduced glutathione, glutathione peroxidase, glutathione reductase and cysteine protease cathepsins at postnatal (PN) days 2, 7, 14, 21 and 28 in controls (wt) and the retinal degeneration 1 (rd1) mouse model for retinitis pigmentosa retinas were measured to determine oxidative stress. In PN28 wt and PN2 rd1 retinas, elevated malondialdehyde and low glutathione peroxidase activity

Background: The purpose was to present the prevalence of all psychotic and bipolar (BP) disorders in a total general population (n=3563), which has been followed from 1947 to 1997. Materials and Methods: Best-estimate consensus DSM-IV diagnoses, supported by data from interviews, case notes, registers and key-informants, were assessed. The period prevalence from 1947 to 1997 and the lifetime preva

Primary headaches, for example, migraine and cluster headaches represent the most prevalent neurological disorders, affecting up to 15 - 20% of the adult population. There is a clear association between head pain and the release of calcitonin gene-related peptide (CGRP). In this review the role of CGRP in human cranial circulation is described and the role for specific CGRP antagonism elucidated.

The molecular mechanisms that cause emphysema are complex but most theories suggest that an excess of proteinases is a crucial requirement. This paradigm is exemplified by severe deficiency of the key antielastase within the lung: alpha(1)-antitrypsin. The Z mutant of alpha(1)-antitrypsin has a point mutation Glu342Lys in the hinge region of the molecule that renders it prone to intermolecular lin

The human melanocortin 4 receptor (MC4r) was successfully expressed in Sf9 cells using the baculovirus infection system. N- and C-terminally His-tagged receptors generated B-max values of 14 and 23 pmol receptor/mg membrane protein, respectively. The highest expression level obtained with the C-terminally His-tagged MC4r corresponded to 0.25 mg active receptor/litre culture volume. Addition of a v

The aim of this study was to evaluate outcome after surgical intervention in patients with ankle fractures. Fifty-four patients consecutively operated were included. A standardised protocol was used to record a number of variables regarding patient characteristics, type of fracture and treatment. Radiographic examination was performed in all patients postoperatively and after 14 months. A question

The vertical positioning of benthic invertebrates should be a trade-off between the risky, but productive, sediment surface and the safer, but physiologically harsher, conditions deeper down in the sediment. This is because the foraging efficiency of benthic fish decreases with sediment depth, whereas the sediment surface is generally better oxygenated and has a higher resource quality than lower

The formylated spirobyclic alcohol 8a was computer modeled to be a mimetic of paclitaxel. In this model, the formyl group was used as a truncated paclitaxel side chain in order to reduce the computational work. Compound 8c, carrying the paclitaxel side chain, was synthesized in six steps from optically active 1,3-diketone 12. Microtubule stabilization was not observed for 8c, indicating that the m