11 research outputs found

    Is there a relationship between joint hypermobility and gastrointestinal disorders in children?

    Get PDF
    Background. The main aim of the study was to assess the association between joint hypermobility (JH) and gastrointestinal (GI) disorders in children. Methods. All children aged 4-17 years attending the clinics of the participating Pediatric Gastroenterology Centres for functional GI disorders (FGIDs) and inflammatory bowel disease (IBD) were screened for joint laxity. JH diagnosis was inferred using the Beighton Score. JHS diagnosis was inferred based on the Brighton Criteria. Rome III Diagnostic Criteria were used to diagnose possible FGIDs. Ulcerative colitis and Crohn’s disease diagnoses were made according to the Porto Criteria. Age and sex- matched healthy children were enrolled as controls. Results. One-hundred-seventy children with GI disorders (70 with FGIDs, 50 with Crohn’s disease, and 50 with ulcerative colitis) and 100 healthy controls were enrolled in the study. JH was reported in 7/70 (10%) children with FGIDs (p=0.26 compared to controls), 4/50 (8%) children with Crohn’s disease (p=0.21 compared to controls) and 15/50 (30%) children with ulcerative colitis (p=0.09 compared to controls; p=0.01 compared to FGIDs; p=0.01 compared to Crohn’s). Conclusions. JH is more prevalent in patients suffering from ulcerative colitis compared to the healthy general population, yet the difference did not reach statistical significance. Likely, a proportion of children with ulcerative colitis and JH may show connective tissue abnormalities. However, whether JH can be considered a possible feature of pediatric GI disorders deserves further investigation

    Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years

    Get PDF
    OBJECTIVES: Inflammatory bowel disease presenting in early childhood is extremely rare. More recently, progress has been made to identify children with monogenic forms of IBD predominantly presenting very early in life. In this study, we describe the heterogeneous phenotypes and genotypes of patients with IBD presenting before the age of two years and establish phenotypic features associated with underlying monogenicity. METHODS: Phenotype data of 62 children with disease-onset before the age of two years presenting over the last 20 years were reviewed. Children without previously established genetic diagnosis were prospectively recruited for next-generation sequencing. RESULTS: 62 patients (55% male) were identified. The median disease-onset was three months of age [IQR: 1 to 11]. Conventional IBD classification only applied to 15 patients with Crohn's disease-like (24%) and three with ulcerative colitis-like (5%) phenotype. Forty-four patients (71%) were diagnosed with otherwise unclassifiable IBD. Patients frequently required parenteral nutrition (40%), extensive immunosuppression (31%), hematopoietic stem-cell transplantation (29%) and abdominal surgery (19%). In 31% of patients underlying monogenic diseases were established (EPCAM, IL10, IL10RA, IL10RB, FOXP3, LRBA, SKIV2L, TTC37, TTC7A). Phenotypic features significantly more prevalent in monogenic IBD were: consanguinity, disease-onset before the 6(th) month of life, stunting, extensive intestinal disease and histological evidence of epithelial abnormalities. CONCLUSION: IBD in children with disease-onset before the age of two years is frequently unclassifiable into Crohn's disease and ulcerative colitis, particularly treatment resistant and can be indistinguishable from monogenic diseases with IBD-like phenotype

    Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of two years.

    Get PDF
    Inflammatory bowel disease presenting in early childhood is extremely rare. More recently, progress has been made to identify children with monogenic forms of IBD predominantly presenting very early in life. In this study, we describe the heterogeneous phenotypes and genotypes of patients with IBD presenting before the age of two years and establish phenotypic features associated with underlying monogenicity.Phenotype data of 62 children with disease-onset before the age of two years presenting over the last 20 years were reviewed. Children without previously established genetic diagnosis were prospectively recruited for next-generation sequencing.62 patients (55% male) were identified. The median disease-onset was three months of age [IQR: 1 to 11]. Conventional IBD classification only applied to 15 patients with Crohn's disease-like (24%) and three with ulcerative colitis-like (5%) phenotype. Forty-four patients (71%) were diagnosed with otherwise unclassifiable IBD. Patients frequently required parenteral nutrition (40%), extensive immunosuppression (31%), hematopoietic stem-cell transplantation (29%) and abdominal surgery (19%). In 31% of patients underlying monogenic diseases were established (EPCAM, IL10, IL10RA, IL10RB, FOXP3, LRBA, SKIV2L, TTC37, TTC7A). Phenotypic features significantly more prevalent in monogenic IBD were: consanguinity, disease-onset before the 6(th) month of life, stunting, extensive intestinal disease and histological evidence of epithelial abnormalities.IBD in children with disease-onset before the age of two years is frequently unclassifiable into Crohn's disease and ulcerative colitis, particularly treatment resistant and can be indistinguishable from monogenic diseases with IBD-like phenotype

    Determinantes da demanda de fertilizantes no Brasil no perĂ­odo de 1970 a 2002

    No full text
    Este trabalho estima uma equação de demanda para fertilizantes no Brasil, considerando o período de 1970 a 2002. Para tanto, procedimentos de anålise de co-integração são utilizados. Constatou-se que apenas o modelo em nível (estimativa pelos mínimos quadrados ordinårios), vålido para o longo-prazo, apresenta bons resultados econométricos. A demanda por fertilizantes é inelåstica a variaçÔes de preços e ao volume de crédito rural, o que é coerente com as estimativas internacionais feitas sobre a demanda de fertilizantes e com a essencialidade que o fertilizante tem para a agricultura brasileira.<br>This paper estimates an equation for fertilizer demand in Brazil, considering the time period from 1970 to 2002. Co-integration analysis procedures have been used and they show that just the level model (LSO method), valid for long term, presents good econometrics results. Fertilizer demand is inelastic to both price fluctuations and rural credit supplied. These results are consistent with the international estimates and they also confirm the importance of fertilizer as an input for the Brazilian agriculture

    Human-Computer Interactions in Museums

    No full text
    corecore