Jornal de pediatria
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Jornal de pediatria · Jan 2012
Case ReportsModerately progressive Ullrich congenital muscular dystrophy.
To describe genetic and clinical features of Ullrich congenital muscular dystrophy (UCMD), and to report the case of a patient diagnosed with UCMD after an exhaustive investigation, which included collagen VI immunohistochemical and genomic analyses. ⋯ A better knowledge of congenital muscular dystrophies will improve the number of correct diagnoses and open new horizons for the treatment of such diseases. Genetic evaluation of UCMD patients has relevant implications for prognosis and genetic counseling of the family. The dissemination of this disorder in the pediatric community is advisable, because of the early onset of clinical manifestations and the fact that it is frequently misdiagnosed or not diagnosed at all.
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Jornal de pediatria · Jan 2012
Reliability of the Pediatric Quality of Life Inventory - Healthcare Satisfaction Generic Module 3.0 version for the assessment of the quality of care of children with chronic diseases.
To translate to Brazilian Portuguese and to evaluate the reliability of the Healthcare Satisfaction (HS) Generic Module version 3.0 of the PedsQL inventory for the Brazilian culture. ⋯ The Brazilian version of the HS-PedsQL is a valid and reliable tool to measure the overall satisfaction of parents and caregivers with the treatment of their children.