Débora Gusmão Melo

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Sotos syndrome or cerebral gigantism is characterized by macrocephaly, overgrowth, mental retardation and central nervous system abnormalities. Congenital heart defects may be present. We report 8 patients with this syndrome and relate their clinical features, neuroimaging and echocardiographic findings.
As discoveries regarding the genetic contribution to disease have grown rapidly, health care professionals are expected to incorporate genetic and genomic perspectives into health education and practice. Genetic competencies common to all health professionals have been identified by the US National Coalition for Health Professional Education in Genetics(More)
A qualitative study's methodological transparency is considered a key factor for achieving its reliability and should be guaranteed by the researchers. Closing the sampling process by saturation is a common approach, but it is rarely made explicit in research reports. Qualitative researchers also commonly experience technical difficulties in objectively(More)
The reliability of the information on congenital defects listed in birth certificates of the Live Birth Information System (SINASC) in the City of São Carlos, São Paulo, Brazil, was evaluated. A descriptive study that reviewed all 15,249 birth certificates from 2003 to 2007 compared the data with information from medical records and death certificates.(More)
OBJECTIVE To assess the prevalence of congenital defects and to investigate their maternal and perinatal associated aspects by reviewing Birth Certificates. METHODS Among all born alive infants from January 2003 to December 2007 in Maternidade da Santa Casa de Misericórdia of São Carlos, Southeast Brazil (12,199 infants), cases were identified as the(More)
Objective: To analyze the neonatal screening program for hemoglobinopathies in São Carlos, Southeast Brazil, by investigating a series of cases in which the screening test was abnormal. More specifically, it was aimed to know the information regarding the neonatal screening received by mothers at the hospital and at primary health care, in addition to(More)
There are about 270 million people worldwide who are carriers of abnormal hemoglobins with clinical outcomes ranging from asymptomatic to death. In Brazil, due to the composition of the population, with influence of Caucasians, Blacks and Asians, there is a considerable number of individuals with genes related to sickle cell disease and thalassemia. The(More)
BACKGROUND Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a(More)
Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder that can be associated with severe complications, and it may shorten patients’ lifespan and affect their quality of life negatively. This study aimed to examine quality of life constructs among adults with NF1 in Brazil. It is an exploratory, descriptive and cross-sectional study consisting(More)
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