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| Pinheiro,Bruna; Zambrano,Marina B.; Vanz,Ana Paula; Brizola,Evelise; Souza,Liliane Todeschini de; Félix,Têmis Maria. |
| Abstract Treatment of moderate and severe forms of osteogenesis imperfecta (OI) with cyclic pamidronate at the Reference Center for OI Treatment in Southern Brazil was studied. A retrospective cohort study was conducted from 2002 to 2012. Data were obtained during inpatient (drug infusion) and outpatient care. Clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, history and site of the fractures, biochemical data, including calcium, phosphorus, and alkaline phosphatase levels, were systematically collected. Bone mineral density (BMD) was measured using dual energy X-ray absorptiometry (DXA). Forty-five patients (26 females) were included in the study, and the age of the patients at the time of diagnosis ranged from 1 to 144... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Osteogenesis imperfecta; Bone fracture; Clinical features; Pamidronate treatment; Compliance. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200252 |
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| Savastano,Clarice Pagani; El-Jaick,Kênia Balbi; Costa-Lima,Marcelo Aguiar; Abath,Cristina Maria Batista; Bianca,Sebastiano; Cavalcanti,Denise Pontes; Félix,Têmis Maria; Scarano,Gioacchino; Llerena Jr,Juan Clinton; Vargas,Fernando Regla; Moreira,Miguel Ângelo Martins; Seuánez,Hector N.; Castilla,Eduardo Enrique; Orioli,Iêda Maria. |
| Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene mutations. Here, we present a clinical and molecular analysis of 195 probands with HPE or microforms; approximately 72% of the patients were derived from the Latin American Collaborative Study of Congenital Malformations (ECLAMC), and 82% of the patients were newborns. Alobar HPE was the predominant brain defect in almost all facial defect categories, except for patients without oral cleft and median or lateral oral clefts. Ethmocephaly, cebocephaly, and premaxillary agenesis were primarily observed among female patients. Premaxillary agenesis occurred in six of the nine diabetic mothers. Recurrence of HPE... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Holoprosencephaly; ECLAMC; SHH; ZIC2; SIX3. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200011 |
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| Momino,Wakana; Félix,Têmis Maria; Abeche,Alberto Mantovani; Zandoná,Denise Isabel; Scheibler,Gabriela Gayer; Chambers,Christina; Jones,Kenneth Lyons; Flores,Renato Zamora; Schüler-Faccini,Lavínia. |
| Prenatal alcohol exposure can have serious and permanent adverse effects. The developing brain is the most vulnerable organ to the insults of prenatal alcohol exposure. A behavioral phenotype of prenatal alcohol exposure including conduct disorders is also described. This study on a sample of Brazilian adolescents convicted for criminal behavior aimed to evaluate possible clinical features of Fetal Alcohol Syndrome (FAS). These were compared to a control group of school adolescents, as well as tested for other environmental risk factors for antisocial behavior. A sample of 262 institutionalized male adolescents due to criminal behavior and 154 male students aged between 13 and 21 years comprised the study population. Maternal use of alcohol was admitted by... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Prenatal alcohol exposure; Fetal alcohol spectrum disorder; Criminal behavior; Conduct disorder; FAS; FASD. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000600011 |
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