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Computational prediction methods are widely used for analysis of human genome sequence variants and their effects on gene/protein function, splice site aberration, pathogenicity, and disease risk. New methods are frequently developed. We believe that guidelines are essential for those writing articles about new prediction methods, as well as for those applying these tools in their research, so tha
Signal transduction in response to growth factors is a strictly controlled process with networks of feedback systems, highly selective interactions and finely tuned on-and-off switches. In the context of cancer, detailed signaling studies have resulted in the development of some of the most frequently used means of therapy, with several well established examples such as the small molecule inhibito
Disease predisposing germline mutations in cancer susceptibility genes may consist of large genomic rearrangements, including deletions or duplications that are challenging, to detect and characterize using standard PCR-based mutation screening methods. Such rearrangements range from single exons up to hundreds of kilobases of sequence in size. Array-based comparative genomic hybridization (aCGH)
Structure determination of superantigens and the complexes they form with immune receptors have over the years provided insight in their modes of action. This technique requires growing large and highly ordered crystals of the superantigen or receptor-superantigen complex, followed by exposure to X-ray radiation and data collection. Here, we describe methods for crystallizing superantigens and sup
BACKGROUND: The in vivo clinical significance of malignant stem cells remains unclear. METHODS: Patients who have the 5q deletion (del[5q]) myelodysplastic syndrome (interstitial deletions involving the long arm of chromosome 5) have complete clinical and cytogenetic remissions in response to lenalidomide treatment, but they often have relapse. To determine whether the persistence of rare but dist
OBJECTIVES: Methods to expand hematopoietic stem cells (HSCs) ex vivo encompass an attractive approach that would substantially broaden the clinical applicability of HSCs derived from cord blood. Recently, members of the Angiopoietin-like (Angptl) family of growth factors were shown to expand both murine and human HSCs. Specifically, Angptl5 has been implicated in the expansion of human NOD-SCID-
BACKGROUND: Healthcare today is a complex system with increasing needs of specific knowledge of evaluation of research and implementation into clinical practice. A critical issue is that we all apply evidence-based practice (EBP) with standardised methods and continuing and systematic improvements. EBP includes both scientific and critical assessed experience-based knowledge. For the individual,
OBJECTIVES: The aim of this study was to investigate disclosure rates and disclosure patterns and to examine predictors of non-disclosure in a sample of male and female adolescents with self-reported experiences of sexual abuse. METHOD: A sample of 4,339 high school seniors (2,324 girls, 2,015 boys) was examined with a questionnaire concerning sexual experiences in this study with a focus on discl
We tested whether the "Lund" (LU) electrode-placement system compared to the Mason-Likar (M-L) electrode-placement system would produce waveforms more similar to those of standard electrocardiograms (ECGs) with regard to the QRS axis in the frontal plane and QRS changes of inferior myocardial infarction (MI). We also tested whether LU was more noise immune than standard, and whether the noise immu
Background/Aims: To evaluate the performance of estimation formulas for glomerular filtration rate (GFR) based on creatinine and cystatin C in elderly. Methods: This study includes 2,931 men and women comprising nine age cohorts (60-93 years) from a longitudinal population-based project in Sweden. The participants were divided into four age groups. GFR was estimated from four formulas: the Modific
Between 1999 and 2005, 10 264 patients who had undergone total hip replacement (THR) for subcapital fracture of the hip were compared with 76 520 in whom THR had been performed for other reasons. All the cases were identified through the Swedish Hip Arthroplasty Register. The THRs performed as primary treatment for fracture were also compared with those done after failure of internal fixation. Aft
BACKGROUND: Sphingomyelin (SM) is present in dietary products and cell plasma membranes. We previously showed that dietary SM inhibited cholesterol absorption in rats. In the intestinal tract, SM is mainly hydrolyzed by alkaline sphingomyelinase (alk-SMase) to ceramide. AIMS: We investigated the influence of SM and its hydrolytic products ceramide and sphingosine on cholesterol uptake in intestina
Aim: The present investigation was designed to evaluate the health-related quality of life (HRQOL) of adolescents with asthma between the age of 16 and 21, when they are transferred from paediatric to adult care. Methods: In this prospective study, 156 teenagers (69 females) with asthma were screened employing spirometry, a histamine challenge, skin prick test for allergy and filled out the 'Livin
BACKGROUND: The early detection of circulatory failure in patients with sepsis is important for successful treatment. Heparin-binding protein (HBP), released from activated neutrophils, is a potent inducer of vascular leakage. In this study, we investigated whether plasma levels of HBP could be used as an early diagnostic marker for severe sepsis with hypotension. METHODS: A prospective study of 2
Background and Purpose. Data on performance times for the 'timed up and go' (TUG) test with analyses of factors, that eventually could affect the result in patients with hip fracture, have not been published to date. The aims of the present study, therefore, were to assess normative reference values of TUG performances and determine the influence of individual and clinical factors on TUG-test scor
The aim of this study was to identify spinal target cells of spinocerebellar neurons, in particular the ventral spinocerebellar tract (VSCT) neurons, giving off axon collaterals terminating within the lumbosacral enlargement. Axons of spinocerebellar neurons were stimulated within the cerebellum while searching for most direct synaptic actions on intracellularly recorded hindlimb motoneurons and i
To present and validate a new method for 4D flow quantification of vortex-ring mixing during early, rapid filling of the left ventricle (LV) as a potential index of diastolic dysfunction and heart failure.
Recurrent spontaneous abortion (RSA), three or more pregnancy losses prior to 20 weeks, occurs in about 1% of all pregnancies, 50% of RSA cases remain unexplained and unresolved. Recently, immune pathways have been implicated in the pathophysiology of RSA. Immune tolerance of the fetal-placental unit and placental angiogenesis are mandatory for a successful pregnancy outcome. Unscheduled dysregula
