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X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton agammaglobulinemia tyrosine kinase (BTK), A database (BTKbase) of BTX mutations lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. In addition to mutations, a number of variants or polymorphisms have been found. Mutations in all the five domains of BTK

The interaction of aqueous U(VI) with galena and pyrite surfaces under anoxic conditions has been studied by solution analysis and by spectroscopic methods. The solution data indicate that uranyl uptake is strongly dependent on pH; maximum uptake (>98%) occurs above a pH range of between 4.8 and 5.5, depending on experimental conditions. Increasing the sorbate/sorbent ratio results in a relative d

We have investigated the acid-unfolded state of acyl-coenzyme A binding protein (ACBP) using N-15 laboratory frame nuclear magnetic resonance (NMR) relaxation experiments at three magnetic field strengths. The data have been analyzed using standard model-free fitting and models involving distribution of correlation times. In particular, a model-independent method of analysis that does not assume a

Background: This study examined how interpersonal relationships, specifically marital quality and adequacy of social support, are associated with depressive symptoms among women. Methods: A sample of 326 female monozygotic and dizygotic twin pairs and their spouses was drawn from the Swedish Twin Registry. Associations among the three variables were evaluated by comparing similarities among monozy

Using Monte Carlo simulation of 99Tcm single-photon-emission computed tomography (SPECT), we investigate the effects of tissue-background activity, tumour location, patient size, uncertainty of energy windows, and definition of tumour region on the accuracy of quantification. The dual-energy-window method of correction for Compton scattering is employed and the multiplier which yields correct acti

Haemodilution is commonly used as prophylaxis, as well as treatment for cerebral ischaemia after aneurysmal subarachnoid haemorrhage (SAH). Thirty-six patients operated for aneurysmal SAH were evaluated retrospectively; 24 received haemodilutive therapy and 12 patients, as a control group, received no additional therapy. There was a 'spontaneous' drop in haematocrit by 22% in both groups, and a co

The physical nature of water and the environment it presents to an organism have long been recognized as important constraints on aquatic adaptation and evolution. Little is known about the dermal cover of mosasauroids (a group of secondarily aquatic reptiles that occupied a wide array of predatory niches in the Cretaceous marine ecosystems 92-65 Myr ago), a lack of information that has hindered i

Although randomized controlled trials (RCT) are the gold standard for establishing causation in clinical research, their aggregated results can be misleading when applied to individual patients. A treatment may be beneficial in some patients, but its harms may outweigh benefits in others. While conventional one-variable-at-a-time subgroup analyses have well-known limitations, multivariable risk-ba

We have used Doppler-free polarization spectroscopy, intermodulated fluorescence and intermodulated optogalvanic spectroscopy for measuring isotope shifts in 6 Ne lines connecting the 2p53s and 2p53p configurations. The measurements were performed on two different hollow cathodes. For the 5852, 5882, 5945, 5976, 6143 and 6164 A lines the 22Ne-20Ne isotope shift was found to be 2300(15), 1740(2), 1

A new experimental model, the two-tracer method (TTM), based on the planar laser-induced fluorescence technique (PLIF), is presented for the measurement of the local concentration of a fluorescent tracer in the liquid phase of a bubbly two-phase system. Light scattering and shading effects due to the bubbles were compensated for using the new model. The TTM results were found to give more accurate

In this study the focus was on patients with psychosis treated in a psychiatric rehabilitation unit in southern Sweden. The study described the stability of the ward atmosphere over 2 years, as well as differences between subgroups of patients regarding gender and diagnosis. Furthermore, the perceived ward atmosphere was compared with what has been recommended in the literature. The ward atmospher

Background The prevalence of minor children in families with a severely mentally ill member, these children's needs for support and the situation of the spouses were investigated as part of a multi-centre study of the quality of the mental health services in Sweden performed in 1986, 1991 and 1997. Methods The sample was drawn from relatives of compulsorily and voluntarily admitted inpatients to a

Here we report on the development of a proteomic platform utilizing a piezoelectric flow-through dispensing unit made from silicon microstructures. The use of a novel surface coating, where matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDI MS) targets were uniformly precoated with a thin film of matrix/nitrocellulose, made the sample preparation straightforward an

We have developed an integrative analysis method combining genetic interactions, identified using type l diabetes genome scan data, and a high-confidence human protein interaction network. Resulting networks were ranked by the significance of the enrichment of proteins from interacting regions. We identified a number of new protein network modules and novel candidate genes/ proteins for type 1 dia

A prospective and controlled study of training after surgery for lumbar disc herniation (LDH). The objective was to determine the effect of early neuromuscular customized training after LDH surgery. No consensus exists on the type and timing of physical rehabilitation after LDH surgery. Patients aged 15-50 years, disc prolapse at L4-L5 or L5-S1. Before surgery, at 6 weeks, 4, and 12 months postope

The pre-Talpha (pTalpha[?]) gene encodes a protein that forms the pre-TCR together with the newly expressed TCR beta chain during a defined stage of early T cell development. The restricted expression of this gene has been suggested to depend on a promoter and an enhancer element containing E boxes, which are potential binding sites for basic helix-loop-helix (bHLH) proteins. We here report that i