Ультрадисперсные порошки на основе железа как катализаторы синтеза жидких углеводородов из СО и Н[2]

International audienceTo date, uniparental disomy (UPD) with phenotypic relevance is described for different chromosomes and it is likely that additional as yet unidentified UPD phenotypes exist. Due to technical difficulties and limitations of time and resources, molecular analyses for UPD using microsatellite markers are only performed in cases with specific phenotypic features. In this study, we carried out a whole genome UPD screening based on a microarray genotyping technique. Six patients with the diagnosis of both complete or segmental UPD including Prader-Willi syndrome (PWS; matUPD15), Angelman syndrome (AS; patUPD15), Silver-Russell syndrome (SRS; matUPD7), Beckwith-Wiedemann syndrome (BWS; patUPD11p), pseudohypoparathyroidism (PHP; patUPD20q) and a rare chromosomal rearrangement (patUPD2p, matUPD2q), were genotyped using the GeneChip Human Mapping 10K Array. Our results demonstrate the presence of UPD in the patients with high efficiency and reveal clues about the mechanisms of UPD formation. We thus conclude that array based SNP genotyping is a fast, cost-effective, and reliable approach for whole genome UPD screening

Inactive Disease in Enthesitis-related Arthritis: Association of Increased Body Mass Index

Objective. Patients with enthesitis-related arthritis (ERA) were less likely to achieve and sustain inactive disease than children with other subtypes of juvenile idiopathic arthritis. The aim of this study was to evaluate the effect of increased body mass index (BMI) on clinical features of the disease and to investigate whether being overweight or obese limits the possibility of achieving clinically inactive disease in patients with ERA

Evaluation of Restless Legs syndrome and growing pains in children with familial Mediterranean fever

Growing pains (GP) and restless leg syndrome (RLS) are one of the frequently seen pain syndromes of childhood. These two pain syndromes -GP and RLS-may be confused with exertional leg pain (ELP) of familial Mediterranean fever (FMF). The aim of this study was to evaluate the frequency of fulfilling the criterion for GP and RLS among children with FMF. Sixty FMF patients and 70 healthy controls were enrolled. Clinical and demographic data of patients were recorded. A questionnaire including the symptoms of GP and RLS were applied to all participants and their parents. Twenty-seven patients (45%) had ELP. Ten FMF patients and 10 healthy children fulfilled GP criteria. There was not a significant difference between patients and controls regarding GP. Three FMF patients and 7 healthy controls fulfilled RLS criteria. There was not a significant difference between two groups regarding RLS. Two out of 27 FMF patients with ELP had RLS while one out of 33 FMF patients without ELP had RLS. Eight out of 27 FMF patients with ELP fulfilled GP criteria while two out of 33 FMF patients without ELP fulfilled GP criteria (p=0.01). There was a significant inverse correlation with FMF severity score and GP (p=0.003 and r=-0.376). There was not a significant association with FMF severity score and RLS. This study suggested that GP and RLS are not more common in pediatric FMF patients than their healthy peers

The relationship of neutrophil-to-lymphocyte ratio with gastrointestinal bleeding in Henoch-Schonlein purpura

Henoch-Schonlein purpura (HSP) is the most common systemic vasculitis of childhood. Gastrointestinal (GI) bleeding is one of the major complications of HSP. The blood neutrophil-to-lymphocyte ratio (NLR) is identified as a potentially useful marker of clinical outcome in inflammatory diseases. NLR may be a useful biomarker of GI bleeding in children with HSP, which has a neutrophil-dominated inflammation. The aim of this study was to evaluate NLR in patients with HSP and to investigate the relationship with GI bleeding. The study consisted of 63 HSP patients and 38 age- and sex-matched healthy children. C-reactive protein, white blood cell count, platelet count, mean platelet volume (MPV), hemoglobin level, and NLR were evaluated. Logistic regression analysis and receiver operating characteristic (ROC) analysis were used to determine the variables associated with GI bleeding. NLR and MPV were the only two indicators associated with GI bleeding in HSP in logistic regression analysis. The area under the ROC curve analysis indicated that NLR could be a more efficient potential predictor of GI bleeding in HSP when compared to MPV. This study suggested that higher NLR might predict GI bleeding in HSP

The Publication Rates of Pediatric Rheumatology Abstracts Presented in European League Against Rheumatism 2009 Congress

Objectives: This study aims to evaluate the publication rates and features of the abstracts related to pediatric rheumatology presented in European League Against Rheumatism 2009 congress

Role of fecal calprotectin in the assessment of intestinal inflammation in children with familial Mediterranean fever

Aim: Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease with recurrent fever and serositis episodes. In recent years, some cases with FMF were reported with gastrointestinal involvement without amyloidosis, vasculitis and inflammatory bowel disease (IBD). It is not yet known whether gastrointestinal involvement is a part of the disease or not. The aim of this study is to investigate the frequency of intestinal inflammation by using a noninvasive method, fecal calprotectin measurement, in pediatric FMF patients