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dup(19)(q12q13.2): Array-based Genotype-Phenotype Correlation of a New Possibly Obesity-related Syndrome.

Small supernumerary marker chromosomes (sSMCs) derived from the near-centromeric area of chromosome 2 are very rare. In addition, duplications of the 2p11.2-->q11.2 region have displayed considerable variability between patients harboring and lacking clinical findings. Moreover, constitutional duplication of the 19q12-->q13.2 region has previously only been described in two cases and was associate

Acoustic Whole Blood Plasmapheresis Chip for Prostate Specific Antigen Microarray Diagnostics.

The generation of high quality plasma from whole blood is of major interest for many biomedical analyses and clinical diagnostic methods. However, it has proven to be a major challenge to make use of microfluidic separation devices to process fluids with high cell content, such as whole blood. Here, we report on an acoustophoresis based separation chip that prepares diagnostic plasma from whole bl

The Vascular Endothelial Growth Factor Receptor Inhibitor Sunitinib Causes a Preeclampsia-Like Syndrome With Activation of the Endothelin System.

Angiogenesis inhibition is an established treatment for several tumor types. Unfortunately, this therapy is associated with adverse effects, including hypertension and renal toxicity, referred to as "preeclampsia." Recently, we demonstrated in patients and in rats that the multitarget tyrosine kinase inhibitor sunitinib induces a rise in blood pressure (BP), renal dysfunction, and proteinuria asso

Population-based assessment of chronic myeloid leukemia in Sweden: striking increase in survival and prevalence.

The clinical outcome for patients with chronic myeloid leukemia (CML) has improved dramatically following the introduction of tyrosine kinase inhibitors. An improved survival, combined with a constant incidence, is expected to increase the prevalence of CML. However, data on the prevalence of CML remain scarce. We examined the overall and relative (age and gender matched) survival and assessed the

Parental participation in pediatric surgical care

Hospitalization and surgery are stressful experiences for children and their parents. In recent years, pediatric health care has shifted toward family-centered care that is based on close and continuous involvement of the child's family members. To shape and improve how pediatric care is delivered, health care providers need to know what children and parents need, expect, and experience. Such know

Preferential conduction patterns along the coronary sinus during atrial fibrillation in humans and their modification by pulmonary vein isolation.

INTRODUCTION: Correlation function analysis applied to endocardial electrograms has earlier been used for analysis of agreement between signals and direction of activation during atrial fibrillation (AF). This study was aimed at evaluating whether preferential activation patterns along the coronary sinus (CS) exist in patients with AF. METHODS: Twenty-seven patients (57 ± 10 years old) admitted fo

The Use of Titanium Dioxide for Selective Enrichment of Phosphorylated Peptides.

Titanium dioxide (TiO2) has very high affinity for phosphopeptides and in recent years it has become one of the most popular methods for phosphopeptide enrichment from complex biological samples. Peptide loading onto TiO2 resin in a highly acidic environment in the presence of 2,5-dihydroxybenzoic acid (DHB), phthalic acid, lactic acid, or glycolic acid has been shown to improve selectivity signif

Alteration of rod and cone function in children with Usher syndrome.

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

Lower gastrointestinal bleeding: incidence, etiology, and outcomes in a population-based setting.

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

Role for Genetic Anticipation in Lynch Syndrome.

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

Augmented Phl p 5-specific Th2 response after exposure of Dendritic Cells to allergen in complex with specific IgE compared to IgG1 and IgG4

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

Pesticide exposure as risk factor for non-Hodgkin lymphoma including histopathological subgroup analysis.

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%)

Proteome analysis of B-cell maturation.

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

Tissue deposits of IgA-binding streptococcal M proteins in IgA nephropathy and Henoch-Schonlein purpura.

IgA nephropathy (IgAN) and Henoch-Schönlein purpura (HSP) are diseases characterized by IgA deposits in the kidney and/or skin. Both may arise after upper respiratory tract infections, but the pathogenic mechanisms governing these diseases remain unclear. Patients with IgAN (n = 16) and HSP (n = 17) were included in this study aimed at examining whether IgA-binding M proteins of group A streptococ

Residual hip dysplasia at 1 year after treatment for neonatal hip instability is not related to degenerative joint disease in young adulthood: a 21-year follow-up study including dGEMRIC.

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).

Characterization of c-kit expression in small cell lung cancer: prognostic and therapeutic implications

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

Potential solutions for providing standard electrocardiogram recordings from nonstandard recording sites.

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