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1.
Genet Mol Biol ; 39(4): 573-579, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27561109

RESUMO

The presence of Native Americans, Europeans, and Africans has led to the development of a multi-ethnic, admixed population in Chile. This study aimed to contribute to the characterization of the uniparental genetic structure of three Chilean regions. Newborns from seven hospitals in Independencia, Providencia, Santiago, Curicó, Cauquenes, Valdívia, and Puerto Montt communes, belonging to the Chilean regions of Santiago, Maule, and Los Lagos, were studied. The presence of Native American mitochondrial DNA (mtDNA) haplogroups and two markers present in the non-recombinant region of the Y chromosome, DYS199 and DYS287, indicative of Native American and African ancestry, respectively, was determined. A high Native American matrilineal contribution and a low Native American and African patrilineal contributions were found in all three studied regions. As previously found in Chilean admixed populations, the Native American matrilineal contribution was lower in Santiago than in the other studied regions. However, there was an unexpectedly higher contribution of Native American ancestry in one of the studied communes in Santiago, probably due to the high rate of immigration from other regions of the country. The population genetic sub-structure we detected in Santiago using few uniparental markers requires further confirmation, owing to possible stratification for autosomal and X-chromosome markers.

2.
Genet Mol Biol ; 37(1 Suppl): 250-62, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24764759

RESUMO

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 or microform was approximately 19%. The frequency of microdeletions, detected using Multiplex Ligation-dependant Probe Amplification (MLPA) was 17% in patients with a normal karyotype. Cytogenetics or QF-PCR analyses revealed chromosomal anomalies in 27% of the probands. Mutational analyses in genes SHH, ZIC2, SIX3 and TGIF were performed in 119 patients, revealing eight mutations in SHH, two mutations in SIX3 and two mutations in ZIC2. Thus, a detailed clinical description of new HPE cases with identified genetic anomalies might establish genotypic and phenotypic correlations and contribute to the development of additional strategies for the analysis of new cases.

3.
Birth Defects Res A Clin Mol Teratol ; 100(4): 300-6, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24677696

RESUMO

BACKGROUND: Holoprosencephaly (HPE) is a spectrum of midline malformations of the prosencephalon generally reflected in a continuum of midline facial anomalies. Patients with mutation in the ZIC2 gene usually present a normal or mildly dysmorphic face associated with a severe brain malformation. Here we present a rare unilateral nasal cleft (Tessier cleft n. 1) with holoprosencephaly in a patient with a ZIC2 mutation. CASE: The male newborn presented with alobar HPE, microcephaly, ocular hypertelorism, upslanting palpebral fissures, a bulky nose with a left paramedian alar cleft. Mutational screening for HPE genes revealed the occurrence of a frameshift mutation in the ZIC2 gene. The mutation was inherited from the father who presented only mild ocular hypotelorism but had an affected child with HPE from his first marriage. CONCLUSION: The occurrence of oral clefts is common in patients with HPE, but unusual in patients with mutation in the ZIC2 gene. To our knowledge, clefts of the nasal alae have been reported only once or twice in patients with ZIC2 mutations. In documented patients from the literature, only 2% of individuals with described pathogenic mutations in the ZIC2 gene (3/171) presented facial clefts, one of them a nasal cleft, while common oral clefts were observed in 27% of individuals (7/26) described with nonpathogenic ZIC2 mutations or presenting a concomitant mutation in another HPE gene. When compared with the general population, nasal clefts are common in ZIC2 mutations and these mutations must be searched for in undiagnosed cases.


Assuntos
Mutação da Fase de Leitura , Holoprosencefalia , Nariz/anormalidades , Proteínas Nucleares/genética , Fatores de Transcrição/genética , Encéfalo/anormalidades , Holoprosencefalia/genética , Holoprosencefalia/patologia , Humanos , Recém-Nascido , Masculino
4.
Mol Biol Rep ; 40(3): 2115-25, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23184006

RESUMO

The association between Down syndrome (DS) and maternal polymorphisms in genes encoding folic acid metabolizing enzymes remains a controversial issue. A meta-analysis was performed to evaluate the association of maternal MTHFR 677C > T polymorphism and the risk of having a child with DS. Case-control studies were screened from major literature databases. Twenty articles from 13 countries worldwide, with a total of 2,101 DS and 2,702 control mothers, attended the inclusion criteria. We found a 50 % increase for the association of maternal homozygous TT genotype and DS in both fixed (OR = 1.51; 95 % CI 1.22-1.87) and random effects models (OR 1.54; 95 % 1.15-2.05). Similarly, a significant pooled OR was found for the heterozygote CT, with an OR 1.26; 95 % CI 1.10-1.43 (fixed effects model) and OR 1.28; 95 % 1.08-1.51 (random effects model). As ultra-violet B solar radiation highly depends on latitude, and can promote, in less pigmented skin, intravascular folate photolysis, we stratified the analysis by latitude region, defining as Tropical (between 23.5(°) S and 23.5(°) N), Sub-Tropical (between 23.5(°) and 40(°) N and S), and Northern (≥ 40(o) N). Significant association was only found for Sub-Tropical area, both using fixed and random effect models. In conclusion, MTHFR 677C > T polymorphism is a moderate risk factor for DS for some populations, and populations located in Sub-Tropical region seem to be at greater risk. Latitude, ethnicity, skin pigmentation, and red blood cell folate are important variables to be considered in future studies.


Assuntos
Síndrome de Down/genética , Predisposição Genética para Doença , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo Genético , Alelos , Criança , Feminino , Genótipo , Humanos , Masculino , Mães , Razão de Chances
5.
Cad Saude Publica ; 27(10): 1961-8, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22031200

RESUMO

The dyad comprising eye anomalies and congenital heart defects in the same newborn has been proposed as the best sentinel phenotype for the early detection of rubella embryopathy. Time-space birth prevalence distributions of the eye-heart dyad were described in 36 Brazilian hospitals from the Latin-American Collaborative Study of Congenital Anomalies - ECLAMC network, for the period 1994-2008. Seventy dyad cases observed among 554,531 births showed seasonal variation (Χ² = 5.84; p < 0.05), suggesting an environmental etiology, with an increase in cases in October-March and acrophase in December. The secular distribution of dyad prevalence rates was consistent with the distribution of rubella cases in Brazil, showing a decrease from 1994 to 2004, followed by an increase until 2008. Two geographic clusters were identified, one with high and the other with low dyad prevalence. In the high prevalence cluster, a secular increase was observed, starting in 1999, matching the rubella epidemic waves observed in Brazil in 1998-2000 and 2006.


Assuntos
Anormalidades do Olho/epidemiologia , Cardiopatias Congênitas/epidemiologia , Síndrome da Rubéola Congênita/epidemiologia , Brasil/epidemiologia , Diagnóstico Precoce , Anormalidades do Olho/virologia , Humanos , Recém-Nascido , Fenótipo , Síndrome da Rubéola Congênita/embriologia , Conglomerados Espaço-Temporais
6.
Cad. saúde pública ; 27(10): 1961-1968, Oct. 2011.
Artigo em Inglês | LILACS | ID: lil-602692

RESUMO

The dyad comprising eye anomalies and congenital heart defects in the same newborn has been proposed as the best sentinel phenotype for the early detection of rubella embryopathy. Time-space birth prevalence distributions of the eye-heart dyad were described in 36 Brazilian hospitals from the Latin-American Collaborative Study of Congenital Anomalies - ECLAMC network, for the period 1994-2008. Seventy dyad cases observed among 554,531 births showed seasonal variation (Χ2 = 5.84; p < 0.05), suggesting an environmental etiology, with an increase in cases in October-March and acrophase in December. The secular distribution of dyad prevalence rates was consistent with the distribution of rubella cases in Brazil, showing a decrease from 1994 to 2004, followed by an increase until 2008. Two geographic clusters were identified, one with high and the other with low dyad prevalence. In the high prevalence cluster, a secular increase was observed, starting in 1999, matching the rubella epidemic waves observed in Brazil in 1998-2000 and 2006.


A díade óculo-cardíaca havia sido proposta como o melhor fenótipo sentinela para detecção precoce da embriopatia rubéolica. Descrevem-se as distribuições têmporo-espaciais das prevalências ao nascimento dessa díade com material do Estudo Colaborativo Latino Americano de Malformações Congênitas (ECLAMC) em 36 hospitais brasileiros no período 1994-2008. Os 70 casos em 554.531 nascimentos mostraram uma variação sazonal significativa (Χ2 = 5,84; p < 0,05), o que sugere uma etiologia ambiental, com um aumento de casos de outubro a março com acrofase em dezembro. A variação secular das prevalências da díade foi compatível com o padrão observado para a distribuição da rubéola no país, com diminuição entre 1994-2004, e ulterior aumento até 2008. Identificaram-se dois conglomerados de alta e de baixa prevalência para a díade. Dentro do conglomerado de alta prevalência, observou-se significativo acréscimo secular a partir do ano 1999, não verificado no conglomerado de baixa prevalência, nem no resto dos hospitais em estudo, compatível com a série de surtos epidêmicos registrados para a infecção rubeólica no Brasil em 1998-2000 e em 2006.


Assuntos
Humanos , Recém-Nascido , Anormalidades do Olho , Cardiopatias Congênitas , Síndrome da Rubéola Congênita , Brasil , Diagnóstico Precoce , Anormalidades do Olho , Fenótipo , Síndrome da Rubéola Congênita/embriologia , Conglomerados Espaço-Temporais
7.
Birth Defects Res A Clin Mol Teratol ; 91(9): 831-5, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21630426

RESUMO

BACKGROUND: To assess spina bifida birth prevalence changes after folic acid fortification of wheat and maize flours began in Brazil in June 2004. METHODS: Cross-sectional study of Brazilian live births in 2004 and 2006. Spina bifida birth prevalence from the Live Births Information System (SINASC: Sistema de Informações sobre Nascidos Vivos) in a prefortified period was compared to a period fortified with folic acid in each state. Observed prevalence rates in 2004 were used to calculate the expected prevalence rates in 2006 under the null hypothesis that both were similar. The observed/expected (O/E) ratios were tested by two-tailed Z-test. To minimize ascertainment differences among states, the O/E ratio of each one of the 27 Brazilian states was adjusted for the number of births with the Mantel-Haenszel statistic. RESULTS The reduction in spina bifida birth prevalence in 2006 was 39% (O/E = 0.61; 95% confidence interval [CI], 0.55-0.67), and 40% (O/E = 0.60; 95% CI, 0.53-0.68), after adjusting for state birth number. This reduction was significant (p < 0.0001), and heterogeneous among states (χ(2) = 72.96; p < 0.0001). CONCLUSIONS: Using SINASC data, there was a significant reduction in spina bifida birth prevalence in Brazil, probably related to the folic acid food fortification program.


Assuntos
Ácido Fólico , Alimentos Fortificados , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/prevenção & controle , Brasil/epidemiologia , Estudos Transversais , Feminino , Humanos , Prevalência
8.
Rev. clín. ortodon. Dental Press ; 9(4): 84-89, ago.-set. 2010. ilus, tab
Artigo em Português | LILACS, BBO - Odontologia | ID: lil-563860

RESUMO

A síndrome do incisivo central superior mediano inclui uma variedade de sinais clínicos decorrentes de defeitos de desenvolvimento das estruturas medianas da face e da parte anterior do cérebro. A agenesia de um dos incisivos centrais superiores é um dos sinais clínicos que caracteriza essa síndrome e, por se tratar de anomalia presente na cavidade bucal, institui o cirurgião dentista como um dos primeiros profissionais a ter contato com esses pacientes. O presente trabalho tem por objetivo apresentar um paciente com tal síndrome, buscando promover o embasamento dos profissionais para que estejam qualificados a diagnosticar, orientar e tratar esses pacientes.


Assuntos
Humanos , Feminino , Criança , Anodontia , Holoprosencefalia/complicações , Incisivo/anormalidades , Maxila
9.
Mol Med Rep ; 1(5): 753-5, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-21479481

RESUMO

Beare-Stevenson syndrome (BSS) (MIM#123790) is a rare disorder characterized by craniofacial anomalies and cutis gyrata associated with anogenital anomalies and prominent umbilical stump. There are few reports on the syndrome, and molecular analysis has revealed the involvement of two closely spaced mutations within the FGFR2 gene: c.1115C↷G (p.S372C) and c.1124C↷G (p.Y375C). We herein describe a new case of a c.1124C↷G mutation in a BSS patient.

11.
Pesqui Odontol Bras ; 17(2): 161-5, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-14569360

RESUMO

Although several studies have demonstrated familial aggregation of nonsyndromic cleft lip with or without cleft palate (CL/P), its model of inheritance remains uncertain. We report the results of complex segregation analysis performed in South American families with a newborn affected with CL/P. Families of 1,792 consecutive newborns affected with CL/P and registered during the period 1967 to 1997 were studied. A model that did not include a major locus was the best-fitting model for CL/P families. This result is in agreement with previous studies which showed a significant association of several putative susceptibility loci and CL/P, indicating that the genes involved in CL/P are likely to have only a very modest impact on disease risk.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Predisposição Genética para Doença , Humanos , Recém-Nascido , Herança Multifatorial , América do Sul/epidemiologia
12.
Pesqui. odontol. bras ; 17(2): 161-165, Apr.-Jun. 2003. tab
Artigo em Inglês | LILACS | ID: lil-347429

RESUMO

Although several studies have demonstrated familial aggregation of nonsyndromic cleft lip with or without cleft palate (CL/P), its model of inheritance remains uncertain. We report the results of complex segregation analysis performed in South American families with a newborn affected with CL/P. Families of 1,792 consecutive newborns affected with CL/P and registered during the period 1967 to 1997 were studied. A model that did not include a major locus was the best-fitting model for CL/P families. This result is in agreement with previous studies which showed a significant association of several putative susceptibility loci and CL/P, indicating that the genes involved in CL/P are likely to have only a very modest impact on disease risk


Assuntos
Humanos , Recém-Nascido , Fenda Labial/genética , Fissura Palatina/genética , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Predisposição Genética para Doença , Herança Multifatorial , América do Sul/epidemiologia
13.
JBP, j. bras. odontopediatr. odontol. bebê ; 2(5): 32-36, jan.-fev. 1999. tab
Artigo em Português | LILACS, BBO - Odontologia | ID: lil-405774

RESUMO

Dentro da prática de Odontologia para Bebês, a verificação da saúde oral da futura mamãe tem sido sugerida como uma das formas de predizer o risco de cárie do futuro bebê. Uma vez assistindo às gestantes, o profissional deverá ser capaz, não só de restabelecer, da melhor maneira possível, a sua saúde oral, como também esclarecer todas as suas dúvidas em relação ao seu estado oral e aos procedimentos propostos. O objetivo deste trabalho foi verificar, na casuística do Serviço de Informação Teratogênica do Rio de Janeiro, quais são as principais dúvidas das gestantes em relação à Odontologia e qual seria a sua natureza. Das 2.016 consultas recebidas entre 1992 e 1998, 1.077 foram consideradas pertinentes ao serviço, ou seja, se referiam a riscos ambientais para uma gestação em curso ou que estava sendo planejada. Das consultas pertinentes ao serviço, 53 (4,9 por cento) foram dúvidas relacionadas à Odontologia. As dúvidas principais se relacionaram aos riscos para o bebê em formação caso a gestante se submetesse ao tratamento dentário (29 casos) e ao exame radiográfico (10 casos). Os outros casos se relacionaram com a manifestação do herpes labial ou ao uso de medicação antiviral tópica, ao uso de complementos vitamínicos com flúor e aos riscos relacionados à vacina contra a hepatite B. O número importante de consultas relacionadas a Odontologia demonstra a necessidade do dentista, que se propõe a assistir a gestante, oferecer todas as informações relativas ao risco para o bebê em formação, diminuindo assim, a ansiedade envolvida em uma consulta odontológica


Assuntos
Humanos , Feminino , Gravidez , Assistência Odontológica , Serviços de Informação , Brasil , Educação em Saúde Bucal , Saúde Bucal , Cuidado Pré-Natal
14.
Rio de Janeiro; Ed. FIOCRUZ; 1996. 147 p. ilus.
Monografia em Português | Coleciona SUS | ID: biblio-933427

RESUMO

De forma detalhada e documentada, traz propostas para a realização de uma eficiente prevenção de defeitos congênitos, ou seja, apresenta medidas que impedem sua ocorrência. O trabalho avalia que tais anomalias - sejam morfológicas (malformações ou deformidades) ou funcionais (retardo mental, cegueira, surdez) e que atualmente afetam a um de cada 10 a 20 recém-nascidos - podem ser evitadas através de medidas relativamente simples, o que importa numa responsabilidade moral da sociedade em geral, e do sistema de saúde, em particular no campo da promoção sanitária. O livro encerra com um decálogo condensado que resume as principais recomendações de prevenção e do qual se pretende uma ampla divulgação.


Assuntos
Anormalidades Congênitas/prevenção & controle
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