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Mutations in the gene encoding Bruton tyrosine kinase (BTK) result in X-linked agammaglobulinemia (XLA), an immunodeficiency of antibody defect. By using base excision sequence scanning method (BESS) followed by direct sequencing we found in seven unrelated families with a classical XLA phenotype various mutations including six novel mutations (g.64512_64513insC, c.108_109insG, c.1700_1701insACTAC
Exercise-induced bronchoconstriction (EIB) can be prevented by a single dose of montelukast (MLK). The effect is variable, similar to the variable responsiveness observed after daily treatment with MLK. We hypothesized that the effect of a single MLK-dose (5 or 10 mg) on EIB could predict the clinical effectiveness of longer term once daily treatment.
Multiconfiguration Hartree-Fock (MCHF) calculations of hyperfine constants for the 2s2p 3P states of beryllium and the ground states of boron and carbon are reported. The capacity of a recently developed configuration-interaction program [Froese Fischer and Tong (unpublished); Stathopoulos and Froese Fischer (unpublished)], allowing for large configuration expansions, is explored. Using a systemat
Malunion after a distal radius fracture can be treated with an osteotomy of the distal radius. Autologous iliac crest bone graft is often used to fill the gap, but the procedure is associated with donor site morbidity. In this study a novel fast resorbing biphasic bone substitute consisting of a mixture of calcium sulphate and calcium phosphate is used (Cerament BoneSupport AB, Sweden). Fifteen co
A diffusion model of noninvasive absorption spectroscopy was used to determine how the change in signal resulting from a point absorber depends on the position of that absorber relative to the source and detector. This is equivalent to calculating the relative probability that a photon will visit a certain location in tissue before its detection. Experimental mapping of the point-target response i
We report a case of a newborn girl with inspissated bile syndrome (IBS) that did not respond to treatment with oral ursodeoxycholic acid (Ursofalk). A solution was found using laparoscopic aided cholecystostomy with an indwelling catheter for local Ursofalk flushing in the gallbladder and the choledochus. This is the first report of a laparoscopic aided management of IBS without cholecystectomy or
Screening assays designed to probe ligand and drug-candidate regulation of membrane proteins responsible for ion-translocation across the cell membrane are wide spread, while efficient means to screen membrane-protein facilitated transport of uncharged solutes are sparse. We report on a microfluidic-based system to monitor transport of uncharged solutes across the membrane of multiple (>100) indiv
BACKGROUND: The size of myocardial infarction (MI) is of significance for the prognosis. Selvester scores might be valuable for this estimation. OBJECTIVE: To compare the differences in Selvester scores for chronic MI provided from standard and EASI-derived 12-lead electrocardiograms (ECGs) and to compare these scores to the MI size measured by delayed-enhancement magnetic resonance imaging (DE-MR
Determination of the glomerular filtration rate (GFR) is generally considered as the most important parameter of quantifying renal function. The GFR is determined as renal or plasma clearance of an ideal filtration marker which is freely filtered by the kidney, does not undergo metabolism, tubular secretion or absorption. Markers that fulfil these demands are inulin, 51Cr-EDTA, 99mTc-DTPA, labelle
One extra chromosome copy (i.e., trisomy) is the most common type of chromosome aberration in cancer cells. The mechanisms behind the generation of trisomies in tumor cells are largely unknown, although it has been suggested that dysfunction of the spindle assembly checkpoint (SAC) leads to an accumulation of trisomies through failure to correctly segregate sister chromatids in successive cell div
The degree of general applicability across Europe currently achieved with several forest succession models is assessed, data needs and steps for further model development are identified and the role physiology based models can play in this process is evaluated. To this end, six forest succession models (DISCFORM, ForClim, FORSKA-M, GUESS, PICUS v1.2, SIERRA) are applied to simulate stand structure
Abstract. Purpose: Ophthalmoscopy is an important skill in undergraduate medical education. The use and outcome of a novel Internet-based method for assessing motor skills-related aspects of ophthalmoscopy skills in medical students are described. Methods: A total of 139 students in Malmö and 255 students in Umeå were assessed during four consecutive semesters. An optic disc photograph was obtaine
During brain embryogenesis, transcription factors drive stem cells towards neuronal fate. Here we show that the transcription factor Pax6 increased in vitro generation of neurons from striatal but not cortical neural stem cells (NSCs), derived from 6 to 9 weeks old human fetuses, without affecting survival and proliferation. Overexpression of mouse Pax6 produced increased numbers of GABA+ and DARP
BACKGROUND: The aim of this retrospective matched cohort study was to evaluate the rate of recurrence among women with delayed large flap breast reconstruction after mastectomy for breast cancer. The recurrence rate among women treated at a single hospital was compared with that in an individually matched control group of women with breast cancer who did not have reconstruction after mastectomy. M
The Theory of Characteristic Modes (TCM) has been applied to design high-performance MIMO antennas for mobile terminals. However, existing studies focus on free-space (FS) performance, which is mostly irrelevant in real usage. This paper investigates the performances of two TCM-based MIMO terminal antenna designs in 7 realistic user scenarios for frequencies below 1 GHz. Full-wave simulation resul
Background: A family history of melanoma is associated with an increased risk of melanoma and probably of other, discordant cancers. Limited data are available on familial mortality in melanoma. If fatal forms of melanoma were associated with fatal forms of melanoma or of some other cancers, only studies on familial mortality rather than on familial incidence might be able to detect them. Furtherm
Increased hematocrit (Hct) attributable to splenic contraction accompanies human apneic diving or apnea with face immersion. Apnea also causes heart rate reduction and peripheral vasoconstriction, i.e., a cardiovascular diving response, which is augmented by face immersion. The aim was to study the role of apnea and facial immersion in the initiation of the hematological response and to relate thi
