3 documents found, page 1 of 1
Repetitive stress fracture: a warning sign of genetic susceptibility to fractur...
Moreira,Mariana Lima Mascarenhas; Araújo,Iana Mizumukai de; Molfetta,Greice Andreotti de; Silva Jr.,Wilson Araújo; Paula,Francisco José Albuquerque deSUMMARY The occurrence of fractures in young individuals is frequently overlooked by physicians, especially when associated with exercise or trauma. Nevertheless, multiple fractures should always be investigated since underlying conditions can predispose to such events. We describe here the case of a young, healthy woman who sustained multiple fractures in the lower limbs, which were initially considered to be ...
The first five-year evaluation of cystic fibrosis neonatal screening program in...
Maciel,Léa Maria Zanini; Magalhães,Patrícia Künzle Ribeiro; Ciampo,Ieda Regina Lopes Del; Sousa,Maria Luísa Barato de; Fernandes,Maria Inez MachadoThe Hospital of the Ribeirão Preto Medical School, University of São Paulo is one of the three screening centers in São Paulo State, Brazil, and has included a test for cystic fibrosis (CF) since February 6, 2010, by a court order. We evaluated the first five years of this CF-newborn screening program. The original immunoreactive trypsinogen (IRT)/IRT screening protocol was adopted in Brazil. A total of 173,571...
Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and ...
Pina-Neto,João M. de; Ferraz,Victor Evangelista F.; Molfetta,Greice Andreotti de; Buxton,Jess; Richards,Sarah; Malcolm,SueThe Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are human neurogenetic disorders involving the imprinting mechanism, at the 15q11-13 chromosome region. The predominant genetic defects in PW are 15q 11-13 deletions of paternal origin and maternal chromosome 15 uniparental disomy. In contrast, maternal deletions and paternal chromosome 15 uniparental disomy are associated with a different neurogene...