Purpose. To evaluate the retinal function, with emphasis on phenotype and rate of progression, in infants and children with different genotypes of Usher syndrome. Methods. Fourteen children (2-10 years of age) with retinitis pigmentosa and hearing impairment were examined with full-field electroretinography (ERG) during general anesthesia, ophthalmologic examination, and genetic analysis. Five chi

OBJECTIVES: To investigate the incidence and outcomes of acute lower gastrointestinal bleeding (ALGIB) in a population-based setting and examine the role of drugs potentially associated with GIB. METHODS: The study was prospective and population based. The cohort included all patients who underwent colonoscopy during the year 2010 at the National University Hospital of Iceland. Indications for

PURPOSE: Anticipation (ie, an earlier age at onset in successive generations) is linked to repeat expansion in neurodegenerative syndromes, whereas its role in hereditary cancer is unclear. We assessed anticipation in Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), in which DNA mismatch repair (MMR) defects cause early and accelerated tumor development with a broad tumor spectr

In this study we have elucidated the effects of allergen-specific antibodies on human DCs and T-cells. Monocyte-derived DCs from allergic patients were exposed to Phlp 5 alone or in complex with Phlp 5-specific human IgG1, IgG4 or IgE and further co-cultured with autologous memory CD4+ T-cells. We demonstrate that DCs treated with Phlp 5/IgE-complexes secrete higher levels of IL-1a, IL-6, VEGF and

We report a population based case-control study of exposure to pesticides as risk factor for non-Hodgkin lymphoma (NHL). Male and female subjects aged 18-74 years living in Sweden were included during December 1, 1999, to April 30, 2002. Controls were selected from the national population registry. Exposure to different agents was assessed by questionnaire. In total 910 (91 %) cases and 1016 (92%)

Proteins affected by anti-mIgM stimulation during B-cell maturation were identified using 2-DE-based proteomics. We investigated the proteome profiles of stimulated and nonstimulated Ramos B-cells at eight time points during 5 d and compared the obtained proteomic data to the corresponding data from DNA-microarray studies. Anti-mIgM stimulation of the cells resulted in significant differences (> o

Developmental dysplasia of the hip (DDH) is associated with an increased risk of early hip osteoarthritis (OA). We aimed to examine the outcome at the completion of growth in a cohort of children who had residual acetabular dysplasia at age 1 year following early treatment for neonatal instability of the hip (NIH).

PURPOSE: The tyrosine-kinase receptor c-kit and its ligand stem cell factor are coexpressed in many small cell lung cancer (SCLC) cell lines, leading to the hypothesis that this coexpression constitutes an autocrine growth loop. To further evaluate the frequency and pathogenic relevance of c-kit expression, tumor tissue together with the corresponding clinical data of SCLC patients was analyzed. E

For a 12-lead resting electrocardiogram (ECG) to be considered "standard," limb electrodes should be placed distally on the limbs. When resting ECGs are taken in conjunction with an ECG-monitoring situation, so-called monitoring sites (as described by Mason and Likar and also others) on the torso are used. Numerous publication have indicated that these ECGs are not identical with those recorded fr

We present results of numerical experiments that are the one-dimensional analog of positron-hydrogen scattering. The obtained wave functions are exact, within model restrictions.

Introduction: Assessment of hand eczema in a clinical study has been achieved using a scoring system which documents extent of eczema on different areas of the hand. Objective: To investigate whether the same scoring system could be used by patients to communicate actual status of hand eczema. Method: In a study of 62 patients (36 females 26 males, age 18-75), the patient's own assessment was comp

BACKGROUND: recurrent fallers are at especially high risk for injuries. OBJECTIVE: to study whether tests of physical performance are associated with recurrent falls. SUBJECTS: a total of 10,998 men aged 65 years or above. METHODS: questionnaires evaluated falls sustained 12 months preceding testing of grip strength, timed stand, 6-m walk and 20-cm narrow walk test. Means with 95% confidenc

Short review of an anthology, dealing with the influence of surrealism in contemporary film.

α1-antitrypsin (AAT) is a serine protease inhibitor, which recently has been shown to prevent type 1 diabetes (T1D) development, to prolong islet allograft survival and to inhibit β-cell apoptosis in vivo. It has also been reported that T1D patients have significantly lower plasma concentrations of AAT suggesting the potential role of AAT in the pathogenesis of T1D. We have investigated whether pl

Serum liver biomarkers (gamma-glutamyl transferase, GGT; alanine aminotransferase, ALT; aspartate aminotransferase, AST; alkaline phosphatase, ALP; total bilirubin) are used as indicators of liver disease, but there is currently little data on their prospective association with risk of hepatobiliary cancers.