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What is ideal genetic counselling? A survey of current international guidelines

The objective of this article is to review guidelines that address counselling in the context of genetic testing in order to summarise what aspects of counselling they consider most important, and to examine how they construct the ideal of genetic counselling. Guidelines were collected by examining the websites of different international professional, political, ethical and patient organisations,

Microfungi and microbial activity along a heavy-metal gradient

Soil fungal biomass, microfungal species composition, and soil respiration rate of conifer mor soil were studied along a steep copper and zinc gradient (up to 20,000 ,ug of Cu and 20,000 ,ug of Zn g-1 dry soil) around a brass mill near the town of Gusum in South Sweden. Fungal biomass and soil respiration rate decreased by about 75% along the metal gradient. Above 1,000 ,ug of Cu g- 1, the decreas

Predictors of and longitudinal changes in insulin sensitivity and secretion preceding onset of type 2 diabetes.

Identification of individuals at high risk of developing type 2 diabetes is a prerequisite for prevention of the disease. We therefore studied risk factors predicting type 2 diabetes in the Botnia Study in western Finland. A total of 2,115 nondiabetic individuals were prospectively followed with repeated oral glucose tolerance tests. After a median follow-up of 6 years, 127 (6%) subjects developed

Ursolic Acid Inhibits Acid Sphingomyelinase in Intestinal Cells.

Ursolic acid (UA) has antiinflammatory and anticancer effects on mammalian cells. Increase in acid sphingomyelinase (SMase) is associated with several inflammatory diseases including inflammatory bowel diseases. The enzyme has become a target for drug discovery. The present study examined the roles of UA on acid SMase in intestinal cells. We found that UA specifically inhibited acid SMase activity

Safety and efficacy of a high cumulative dose of salbutamol inhaled via Turbuhaler or via a pressurized metered-dose inhaler in patients with asthma

An open, crossover and randomized study was carried out to compare the safety and efficacy of salbutamol inhaled using the dry-powder inhaler Turbuhaler, and using a pressurized metered-dose inhaler (pMDI). Twelve patients with moderate to severe asthma, aged 47-68 years, were included in the study. On two separate days, patients received a total dose of 1600 micrograms of salbutamol administered

Do economic evaluation studies inform effective healthcare resource allocation in Iran? A critical review of the literature.

To aid informed health sector decision-making, data from sufficient high quality economic evaluations must be available to policy makers. To date, no known study has analysed the quantity and quality of available Iranian economic evaluation studies. This study aimed to assess the quantity, quality and targeting of economic evaluation studies conducted in the Iranian context. The study systematical

Thermosensitivity in a reconstructed microtic ear.

The aim of this study was to evaluate thermo-thresholds in autologous reconstructed microtic ears. Nineteen patients with unilateral microtia were investigated no less than two years after the last operation (3.6+/-1.7 years). Their normal corresponding ear acted as controls. Eight healthy children were also investigated to illustrate technical differences between measuring the two sides. Thermal

Cancer in immigrants as a pointer to the causes of cancer.

The early cancer studies on immigrants, which started to appear some 50 years ago, showed that the incidence in cancers changes to the level of the new host country in one or two generations. These findings were fundamental to the understanding of the environmental etiology of human cancer. Many immigrant groups originate from countries with no cancer registration, and, hence, the immigrant studie

Preoperative platelet-rich plasmapheresis and hemodilution with an autotransfusion device in total hip replacement surgery.

The effectiveness of both preoperative autologous donation (PAD) and intraoperative autotransfusion (IAT) with an autotransfusion device has recently been questioned. Preoperative apheresis, with separation of concentrated platelet rich-plasma (c-PRP) and erythrocyte concentrate (ERC), represents an aggressive use of the autotransfusion device. Can such a procedure replace PAD in total hip replace

Photon activation therapy of RG2 glioma carrying Fischer rats using stable thallium and monochromatic synchrotron radiation.

75 RG2 glioma-carrying Fischer rats were treated by photon activation therapy (PAT) with monochromatic synchrotron radiation and stable thallium. Three groups were treated with thallium in combination with radiation at different energy; immediately below and above the thallium K-edge, and at 50 keV. Three control groups were given irradiation only, thallium only, or no treatment at all. For animal

Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.

Cyclic and congenital neutropenia are caused by mutations in the human neutrophil elastase (HNE) gene (ELA2), leading to an immunodeficiency characterized by decreased or oscillating levels of neutrophils in the blood. The HNE mutations presumably cause loss of enzyme activity, consequently leading to compromised immune system function. To understand the structural basis for the disease, we implem

Thermal impact of steel toe cap in footwear

This study investigated cold weather safety footwear and the possible thermal effects of steel toe caps in footwear. Two boot models were manufactured and used in two variants - with (As and Ws) and without (An and Wn) steel toe cap. The boot insulation was measured with an artificial, heated foot (AHF). Experiments with 6 male subjects with boots Ws and Wn consisted of sitting for 60 minutes at -

Computed tomography with adjusted dose for body mass index may be superior to whole-body radiography especially in elderly patients with multiple myeloma

Background: Whole-body skeletal radiography has traditionally been used in the management of multiple myeloma for defining treatment strategies. For several reasons, radiography has been replaced by computed tomography (CT) covering the same regions. Purpose: To evaluate the body mass index (BMI) adjusted effective radiation dose from two different methods of whole-body radiologic imaging for mult

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Purpose: The study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and to determine the role of cysteine supplementation in its treatment. Methods: Individuals with biallelic (likely) pathogenic variants in TRMU were studied through an international retrospective collection of de-identified p

Bacillus subtilis forms twisted cells with cell wall integrity defects upon removal of the molecular chaperones DnaK and trigger factor

The protein homeostasis network ensures a proper balance between synthesis, folding, and degradation of all cellular proteins. DnaK and trigger factor (TF) are ubiquitous bacterial molecular chaperones that assist in protein folding, as well as preventing protein misfolding and aggregation. In Escherichia coli, DnaK and TF possess partially overlapping functions. Their combined depletion results i

Nanostructure of the deep eutectic solvent/platinum electrode interface as a function of potential and water content

The interfacial nanostructure of the three most widely-studied Deep Eutectic Solvents (DESs), choline chloride:urea (ChCl:Urea), choline chloride:ethylene glycol (ChCl:EG), and choline chloride:glycerol (ChCl:Gly) at a Pt(111) electrode has been studied as a function of applied potential and water content up to 50 wt%. Contact mode atomic force microscope (AFM) force-distance curves reveal that fo

Design, Optimization and Verification of a Dual Band Circular Polarization Selective Structure

We present a non-resonant, dual band circular polarization selective structure (CPSS) for satellite communication applications in the K- and Ka-bands. The structure consists of multiple layers of cascaded anisotropic sheets, with printed meander lines, separated by low permittivity spacers. It reflects right handed circular polarization and transmits left handed circular polarization in the lower