X-linked agammaglobulinaemia (XLA) is an inherited immunodeficiency resulting from mutations in the gene for a cytoplasmic protein tyrosine kinase (Btk), We have utilised reverse-transcription-based PCR in combination with the chemical cleavage and mismatch technique (CCM) to screen for Btk mutations in 42 unrelated patients having classical XLA or 'leaky' XLA-like phenotypes. A variety of mutatio

Gaucher disease (GD), the most common lysosomal storage disorder (LSD), is caused by defects in the activity of the lysosomal enzyme, glucocerebrosidase, resulting in intracellular accumulation of glucosylceramide (GlcCer). Neuronopathic forms, which comprise only a small percent of GD patients, are characterized by neurological impairment and neuronal cell death. Little is known about the pathway

The present study describes and compares quality of life (QoL) and factors which predict QoL among people aged 75 years and over who receive help with activities of daily living (ADLs) from formal and/or informal helpers. The subjects were living at home or in special accommodation in Sweden. A postal questionnaire was sent to a randomly selected and age-stratified sample of 8500 people. The respo

The effect of a temperature decrease from 33 degrees C to 12 degrees C was investigated for anaerobic digestion of crop residues. A laboratory-scale reactor (R,) was inoculated with mesophilic sludge and operated as continuously stirred fed-batch system at temperatures of 12 degrees C, 18 degrees C and 33 degrees C. Changes in the microbial populations of the sludge were followed by means of fluor

Huntington's disease (HD) is a devastating neurodegenerative disorder caused by an expanded CAG repeat in the gene encoding huntingtin, a protein of unknown function. Mutant huntingtin forms intracellular aggregates and is associated with neuronal death in select brain regions. The most studied mouse model (R6/2) of HD replicates many features of the disease, but has been reported to exhibit only

The preferences of some woodland understorey species for ammonium and nitrate were investigated by measuring the potential nitrification (conversion of ammonium to nitrate) in the rhizosphere compared with the bulk soil. Less acid-tolerant species, which usually prefer nitrate or a mixture of ammonium and nitrate in hydroponic culture, should have a higher potential nitrification in the rhizospher

A general expression for the distribution of the fluctuating 2(l)-pole moment M(l) of a spherical sample of dielectric material is derived on the basis of dielectric theory combined with statistical mechanics. The formulas are compared with results from computer simulations of a weakly coupled Stockmayer fluid and the agreement is shown to be excellent. Furthermore, we calculate the size of the co

Every nite group acts as the full isometry group of some compact hyperbolic 3-manifold. In this paper we study those nite groups which act maximally, that is when the ratio jIsom+(M)j=vol(M)is maximal among all such manifolds. In two dimensions maximal symmetry groups are called Hurwitz groups, and arise as quotients of the (2,3,7){triangle group. Here we study quotients of the minimal co-volume l

An atomic protein model with a minimalistic potential is developed and then tested on an α-helix and a β-hairpin, using exactly the same parameters for both peptides. We find that melting curves for these sequences to a good approximation can be described by a simple two-state model, with parameters that are in reasonable quantitative agreement with experimental data. Despite the apparent two-stat

We studied a ca 200 ha large forest site that holds an exceptionally large number of red-listed saproxylic beetles. We conducted pollen, charcoal and dendroecological analyses to reveal the long-term stand-level history of the site. We also investigated which of the red-listed saproxylic beetles recorded at the site are probably dependent on forest fires or structures that are created by fires. Po

Aims To characterize the absorption kinetics and bioavailability of an inhaled hydrophilic solute deposited at various sites within the airways. Methods Nine healthy nonsmokers received one intravenous, one oropharyngeal and two pulmonary doses of technetium-99 m-labelled diethylene triamine pentaacetic acid (Tc-99m-DTPA) in an open and crossover fashion. Pulmonary doses were administered as nebul

Purpose: The purpose of this study was to measure total levels of tissue inhibitor of metalloproteinases (TIMP-1) by ELISA in plasma from blood donors, patients with inflammatory bowel disease (IBD), and patients with cancer and to correlate the results to patient diagnosis. Experimental Design: Total TIMP-1 plasma levels were measured by ELISA in blood samples from two different blood donor popul

Differences in growth conditions during early ontogeny have been suggested to cause permanent effects on the morphology and quality of birds. Yearly variation in growth conditions could thus result in morphological and quality differences between cohorts. In this study, we investigated the effect of small differences in the dietary protein content of captive ring-necked pheasants (Phasianus colchi

Aim: The aim of this study was to study the type and frequency of complications and change in weight after a laparoscopic gastrostomy procedure in 31 children with congenital heart disease, comparing patient groups of children with univentricular and biventricular circulation, and with completed and uncompleted cardiac surgery. Methods: The method used was that of a retrospective study of all 31 c

The competitive adsorption at the water-goethite interface between phosphate and a carboxylic acid, either oxalate, citrate, 1,2,3,4-butanetetracarboxylic acid (BTCA), mellitate or Suwannee River Standard Fulvic Acid 1S101F (FA), was investigated over a wide pH range (3-9) by means of batch experiments and attenuated total reflectance Fourier transform infrared (ATR-FTIR) spectroscopy. The quantit

Prophylactic treatment of haemophilia has been gaining acceptance as the optimal therapeutic option in an increasing number of haemophilia centres in the developed world in recent years. This paper focus on three aspects of prophylactic therapy: when to start treatment, venous access and the dose/dose interval. Evidence is in favour of prophylactic treatment to be started at an early age using eit