Navegando por Palavras-chave "Hirschsprung disease"

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    Mutação do proto-oncogene RET e incidência de carcinoma medular de tireoide em pacientes com diagnóstico de doenca de Hirschsprung
    (Universidade Federal de São Paulo (UNIFESP), 2004) Leonhardt, Fernando Danelon [UNIFESP]; Abrahão, Marcio [UNIFESP]
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    A patient with tetrasomy-9p, dandy-walker cyst and hirschsprung disease
    (Expansion Sci Francaise, 1992-01-01) Melaragno, Maria Isabel [UNIFESP]; Brunoni, Decio [UNIFESP]; Patricio, Francy Reis da Silva [UNIFESP]; Corbani, Mariza; Mustacchi, Zan; Stocco, Rita de Cassia; Lederman, Henrique Manoel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); HOSP INFANTIL DARCY; INST BUTANTAN
    The authors report on a patient with tetrasomy 9p and 9qh due a karyotype 47,XY,+dic(9)(q12) in lymphocytes and a normal karyotype in fibroblasts. Clinical and complementary investigation revealed a malformation syndrome with many anomalies like those of trisomy 9p as well as Dandy-Walker cyst and Hirschsprung disease not previously described in tetrasomy 9p.
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    Quality-of-Life Assessment in Children With Fecal Incontinence
    (Lippincott Williams & Wilkins, 2015-04-01) Filho, Humberto S.; Mastroti, Roberto A.; Klug, Wilmar A.; Universidade Federal de São Paulo (UNIFESP); Santa Casa São Paulo Med Sch
    BACKGROUND: Fecal incontinence is a clinical condition that causes embarrassment and changes the perception of quality of life. the absence of a specific tool for assessing fecal incontinence in children led us to adapt an instrument originally developed for adults, which has already been validated into Portuguese.OBJECTIVE: the purpose of this work was to evaluate the quality of life of children with fecal incontinence.DESIGN: This is a single-center, prospective study based on the application of survey. the Fecal Incontinence Quality of Life questionnaire was modified by eliminating 2 questions related to sexuality and by substituting the word depressed with sad in the statement, I feel depressed.SETTING: the study took place at a tertiary academic medical center.PATIENTS: Forty-one children >5 years of age, with incontinence of organic etiology and preserved cognition but without stomy, were interviewed with the use of the Fecal Incontinence Quality of Life modified questionnaire. To evaluate the discrimination validity, 28 healthy children were interviewed as control subjects.MAIN OUTCOME MEASURES: As to reproducibility, a test/retest was performed, involving 25 children. for construct validation, the Fecal Incontinence Quality of Life modified was correlated with the generic instrument Autoquestionnaire Qualite de Vie Enfant Image with the continence index São Paulo Score of Continence.RESULTS: the average values by scale included lifestyle, 3.1; emotional, 2.8; behavior, 2.3; and embarrassment, 1.6. the average values for the control group included lifestyle, 3.7; emotional, 4.0; behavior, 3.6; and embarrassment, 3.6. the instrument showed a general reliability of 0.78, measured by the Cronbach a. Reproducibility was also >0.90 according to the Cronbach a.LIMITATIONS: the intrinsic characteristics of children include their constant growth, and this presented a challenge in our search for an instrument that permitted us to identify and measure these variations.CONCLUSIONS: the experiment showed a reduction in all of the scale values, particularly for embarrassment in children with fecal incontinence.