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Rittler M.,Latin American Collaborative Study of Congenital Malformations ECLAMC | Campana H.,Center for Medical Education and Clinical Research | Campana H.,Commission of Scientific Research CIC | Ermini M.L.,Hospital Italiano | And 10 more authors.
Birth Defects Research Part A - Clinical and Molecular Teratology | Year: 2015

Background: Although young maternal age has been identified as a risk factor for gastroschisis, its role remains undisclosed. To our knowledge, the differences between young mothers of infants with gastroschisis and young mothers of infants with other pregnancy outcomes have not been established. The aim of this work was to compare characteristics of young mothers whose newborn had gastroschisis with same aged mothers of malformed and nonmalformed control infants, diagnosed within the ECLAMC maternity hospital network. Methods: Data base records of live and stillborn infants of one of three groups (with isolated gastroschisis, with 1 of 5 other isolated birth defects, and nonmalformed), and whose mothers were younger than 20 years, were selected. Secular trends were obtained for all birth defects; frequencies and odds ratios (OR) of demographic and reproductive variables were compared among the 3 groups. Significantly associated variables were adjusted with a multivariate regression. Results: The association was higher with gastroschisis 1) than with other birth defects for African ancestry, smoking, adequate prenatal control and diagnosis 2) than with nonmalformed controls for maternal illnesses and alcohol 3) and than both for previous pregnancy loss and medication, mainly sex hormones. After adjustment, only previous pregnancy loss maintained its significance when compared with malformed (OR=2.34; 1.37-3.97; P=0.002), as well as with nonmalformed (OR=3.43; 2.07-5.66; P<0.001) controls. Conclusion: A previous pregnancy loss was identified as the main risk factor for gastroschisis, while an increased use of sex hormones, perhaps related to the previous loss, could trigger a disruptive mechanism, due to their thrombophilic effect. © 2015 Wiley Periodicals, Inc. Source

Acosta A.X.,Federal University of Bahia | Acosta A.X.,National Institute of Population Medical Genetics INAGEMP | Acosta A.X.,Murdoch University | Acosta A.X.,Hospital Universitario | And 6 more authors.
Journal of Genetic Counseling | Year: 2013

Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population of some 194 million. Universal health care is provided under the Federal Unified Health System (Sistema Único de Saúde) but, as in many other middle and low income countries, access to medical genetics services is limited in rural and remote regions of the country. Since there is no formally recognized Genetic Counseling profession, genetic counseling is provided by physicians, trained either in medical genetics or a related clinical discipline. A comprehensive medical genetics program has been established in Monte Santo, an inland rural community located in the state of Bahia in Northeast Brazil, with high prevalences of a number of autosomal recessive genetic disorders, including non-syndromic deafness, phenyketonuria, congenital hypothyroidism and mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Genetic education, counseling and treatment are locally provided, with a neonatal screening program for MPSVI currently under trial. © 2013 National Society of Genetic Counselors, Inc. Source

Burton B.K.,Northwestern University | Giugliani R.,Medical Genetics Service Hospital de Clinicas de Porto Alegre HCPA | Giugliani R.,Federal University of Rio Grande do Sul | Giugliani R.,National Institute of Population Medical Genetics INAGEMP | And 6 more authors.
Journal of Inherited Metabolic Disease | Year: 2014

Introduction: No published clinical trial data are available to inform the use of enzyme replacement therapy (ERT) in patients with the severe (neuropathic) phenotype of mucopolysaccharidosis II (MPS II). Current guidelines recommend ERT administered intravenously be used on a trial basis in this population. Aims/methods: A retrospective chart review was conducted at five international centers for this case series of 22 patients with neuropathic MPS II who received intravenous idursulfase 0.5 mg/kg weekly for at least 2 consecutive years. We collected data about urinary glycosaminoglycan levels, adverse events, and the following somatic signs/symptoms: skeletal disease, joint range of motion, liver/spleen size, respiratory infections, cardiac disease, diarrhea, skin/hair texture, and hospitalizations. Results: The age at diagnosis was 2 months to 5 years, and the age at idursulfase initiation was between 18 months and 21 years. One of 22 patients experienced improvements in seven somatic signs/symptoms; 17/22 experienced improvements in five to six somatic signs/symptoms; and 4/22 experienced improvements in four somatic signs/symptoms. None experienced fewer than four improvements. No new safety concerns arose. Infusion-related reactions were experienced by 4/22 patients but were successfully managed using accepted strategies. Conclusions: Long-term treatment with idursulfase was associated with improvements in somatic manifestations in this case series of patients with neuropathic MPS II. The family and medical team should maintain open lines of communication to make treatment decisions that take into consideration the benefits and limitations of ERT in this population. © 2014 The Author(s). Source

Fonseca C.L.W.,Federal University of Rio Grande do Sul | Biondi F.C.,National Institute of Population Medical Genetics INAGEMP | Biondi F.C.,Federal University of Rio Grande do Sul | Biondi F.C.,Federal University of Para | And 3 more authors.
Journal of Community Genetics | Year: 2015

In this paper, we discuss the experience of a team of geneticists, working in partnership with a Brazilian social movement aimed at promoting the rights of victims of Hansen’s disease. These university researchers propose to use DNA test results to ascertain kinship connections and thereby reunite families that were sundered apart by draconian state policies of the mid-twentieth century that decreed the forced segregation of leprosy patients and the institutionalization of their children. The team’s aim is to help revert stigma and reinforce positive group identity as well as to facilitate judicial claims to moral and financial reparation from the Brazilian state. We will discuss how, notwithstanding the voluntary nature of tests, mediated at all times through the social movement, the geneticists take care to follow clear ethical guidelines in the collection and stocking of DNA samples as well as in the devolution of test results. The subsequent inclusion of anthropologists in the team brings to the fore new ethical dilemmas ranging from procedures in field research to the possible consequences of research results. © 2015, Springer-Verlag Berlin Heidelberg. Source

Vianna F.S.L.,National Institute of Population Medical Genetics INAGEMP | Vianna F.S.L.,Federal University of Rio Grande do Sul | Fraga L.R.,Federal University of Rio Grande do Sul | Tovo-Rodrigues L.,Federal University of Rio Grande do Sul | And 7 more authors.
Nitric Oxide - Biology and Chemistry | Year: 2013

Thalidomide is one of the most potent teratogens known to humans. It is currently used for many clinical situations such as treatment of leprosy reactions and multiple myeloma. However, the teratogenic mechanisms by which it produces morphological defects still remain unclear. One of the hypotheses is the blockage of angiogenesis by reduction of nitric oxide (NO). In this study, we evaluated two functional polymorphisms of the endothelial nitric oxide synthase (eNOS) gene which is a constitutively expressed enzyme responsible for production of NO. The promoter -786T > C exon 7 (896G > T) polymorphisms were genotyped using real-time PCR for 28 individuals with thalidomide embryopathy (TE), 27 first-degree relatives of these individuals, and 68 individuals from the general population. Their allele, genotypic, and haplotypic frequencies were compared. A significant difference was observed in the -786T > C polymorphism genotypes (p = 0.03) between the groups affected by TE and those unaffected (non-relatives). The TT genotype of the 896G > T polymorphism was observed in 10.7% of those affected and 2.9% of those unaffected, but the difference was not statistically significant (p = 0.09). The haplotypic analysis indicated that the wild haplotype -786T/896G was distributed differently in the affected and unaffected groups (p = 0.004). These results indicate that the individuals with TE have a higher frequency of alleles associated with lower expression of eNOS, indicating that this may be a genotype susceptible to TE.© 2013 Elsevier Inc. All rights reserved. Source

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