557 research outputs found

    Suicide Pact

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    Objective: To determine the time of diagnosis of typical orofacial clefts in different Brazilian regions and its influence on age at surgical correction. Method: This was a prospective, descriptive, cross-sectional study conducted in medical centers in the Southeast, South, and Northeast of Brazil. Trained speech therapists and geneticists interviewed the parents of affected children using a previously validated questionnaire. Epi-Info and SPSS were used for data analysis. Significance level was set at 5% (p ≤ 0.05). Results: The sample consisted of 215 interviews conducted in the following regions: 21.9% (47) in the Southeast, 51.1% (110) in the South, and 27% (58) in the Northeast. Monthly family income was higher in the Southeast (p ≤ 0.05). Cleft lip and palate were found in 61.4% (132) of cases, cleft palate in 20.9% (45), and cleft lip in 17.7% (38). Diagnosis occurred in the maternity ward in 75.3% (162) of cases, during the prenatal period in 14% (30), and after hospital discharge in 10.2% (22). The Southeast had a higher frequency of prenatal diagnosis (27.7%), possibly related to greater purchasing power in this region and greater availability of prenatal investigation. Of all cases diagnosed in the maternity ward, 74.4% occurred in the Northeast. However, no significant difference was found when comparing time of diagnosis, region, and age at first surgery. Conclusion: Considering that diagnosis is more common in the maternity ward, local health care teams should be trained in order to effectively improve the initial care of these patients. Although time of diagnosis did not affect age at surgery, it favors the planning of neonatal care and treatment of affected infants. Copyright © 2011 by Sociedade Brasileira de Pediatria.873225230Wyszynski, D.F., (2002) Cleft Lip and Palate: From Origin to Treatment, , New York: Oxford University PressMoore, K.L., Persaud, T.V., The Pharyngeal (Branchial) Apparatus (1998) The Developing Human Clinically Oriented Embryology, pp. 215-256. , Moore KL, Persaud TV. 6th ed. Philadelphia, Pa: WB SaundersMossey, P.A., Little, J., Epidemiology of oral clefts: An international perspective (2002) Cleft Lip and Palate: from Origin to Treatment, pp. 127-158. , Wyszynski DF, editor. New York: Oxford University PressGlobal strategies to reduce the healthcare burden of craniofacial anomalies (2002) Report of WHO Meetings on International Collaborative Research on Craniofacial Anomalies, , Word Health Organization. Geneva: WHOStoll, C., Alembik, Y., Dott, B., Roth, M.P., Associated malformations in cases with oral clefts (2000) Cleft Palate-Craniofacial Journal, 37 (1), pp. 41-47Marazita, M.L., Mooney, M.P., Current concepts in the embryology and genetics of cleft lip and cleft palate (2004) Clin Plast Surg, 31, pp. 125-140Cohen Jr., M.M., Gorlin, R.J., Fraser, F.C., Craniofacial Disorders (1997) Emery and Rimoin's Principles and Practice of Medical Genetics, pp. 1121-1148. , Rimoin DL, Connor JM, Pyeritz RE, Korf BR, editors. New York: Churchill LivingstoneShprintzen, R.J., Siegel-Sadewitz, V.L., Amato, J., Goldberg, R.B., Anomalies associated with cleft lip, cleft palate, or both (1985) American Journal of Medical Genetics, 20 (4), pp. 585-595. , DOI 10.1002/ajmg.1320200404Offerdal, K., Jebens, N., Syvertsen, T., Blaas, H.G., Johansen, O.J., Eik-Nes, S.H., Prenatal ultrasound detection of facial clefts: A prospective study of 49,314 deliveries in a non-selected population in Norway (2008) Ultrasound Obstet Gynecol, 31, pp. 639-646Russell, K.A., Allen, V.M., MacDonald, M.E., Smith, K., Dodds, L., A population-based evaluation of antenatal diagnosis of orofacial clefts (2008) Cleft Palate-Craniofacial Journal, 45 (2), pp. 148-153. , DOI 10.1597/06-202.1Bunduki, V., Ruano, R., Sapienza, A.D., Hanaoka, B.Y., Zugaib, M., Diagnóstico pré-natal de fenda labial e palatina: Experiência de 40 casos (2001) RBGO, 23, pp. 561-566Grandjean, H., Larroque, D., Levi, S., The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study (1999) American Journal of Obstetrics and Gynecology, 181 (2), pp. 446-454. , DOI 10.1016/S0002-9378(99)70577-6Amstalden-Mendes, L.G., Magna, L.A., Gil-da-Silva-Lopes, V.L., Neonatal care of infants with cleft lip and/or palate: Feeding orientation and evolution of weight gain in a nonspecialized Brazilian hospital (2007) Cleft Palate-Craniofacial Journal, 44 (3), pp. 329-334. , DOI 10.1597/05-177Reid, J., A review of feeding interventions for infants with cleft palate (2004) Cleft Palate-Craniofacial Journal, 41 (3), pp. 268-278. , DOI 10.1597/02-148.1Shaw, W.C., Semb, G., Nelson, P., Brattström, V., Molsted, K., Prahl- Andersen, B., The Eurocleft Project 1996-2000: Overview (2001) J Cranio-maxillofacial Surgery, 29, pp. 131-140Chitty, L.S., Griffin, D.R., Anormalidades do lábio e do palato fetal: Diagnóstico ultra-sonográfico (2005) Tratamento de Fissura Labial e Fenda Palatina, pp. 107-116. , Watson AC, Sell DA, Grunwell P. São Paulo: Editora SantosHabel, A., O papel do pediatra (2005) Tratamento de Fissura Labial e Fenda Palatina, pp. 123-135. , Watson AC, Sell DA, Grunwell P. São Paulo: Editora SantosRibeiro-Roda, S., Gil-da-Silva-Lopes, V.L., Aspectos odontológicos das fendas labiopalatinas e orientações para cuidados básicos (2008) Rev Cienc Med, 17, pp. 95-103Monlleo, I.L., Gil-da-Silva-Lopes, V.L., Craniofacial anomalies: Description and evaluation of treatment under the Brazilian Unified Health System (2006) Cadernos de Saude Publica, 22 (5), pp. 913-922. , http://www.scielo.br/pdf/csp/v22n5/04.pdfLoffredo, L.C., Freitas, J.A., Grigolli, A.A., Prevalência das fissuras orais de 1975 a 1994 (2001) Rev Saude Publica, 35, pp. 571-575Nunes, L.M., Queluz, D.P., Pereira, A.C., Prevalência de fissuras labiopalatais no município de Campos dos Goytacazes-RJ, 1999-2004 (2007) Rev Bras Epidemiol, 10, pp. 109-116Cerqueira, M.N., Teixeira, S.C., Naressi, S.C., Ferrreira, A.P., Ocorrência de fissuras labiopalatais na cidade de São José dos Campos-SP (2005) Rev Bras Epidemiol, 8, pp. 161-166Di Ninno, C.Q., Santos, P.G., Bueno, M.G., Syrio, I.M., A influência da época do diagnóstico das fissuras labiopalatinas (2006) Rev Soc Bras Fonoaudiol, 11, pp. 75-81Jones, M.C., Prenatal diagnosis of cleft lip and palate: Detection rates, accuracy of ultrasonography, associated anomalies and strategies for counseling (2002) Cleft Palate Craniofac J, 39, pp. 169-173Johnson, N., Sandy, J.R., Prenatal diagnosis of cleft lip and palate (2003) Cleft Palate-Craniofacial Journal, 40 (2), pp. 186-189. , DOI 10.1597/1545-1569(2003)0402.0.CO;2Bradbury, E., Bannister, P., Aconselhamento pré-natal, perinatal e pós-natal (2005) Tratamento de Fissura Labial e Fenda Palatina, pp. 117-122. , Watson AC, Sell DA, Grunwell P. São Paulo: Editora SantosDi Ninno, C.Q., Gomes, R.O., Santos, P.G., Bueno, M.G., Galvão, D.A., Meira, A.L., O conhecimento de profissionais da área da saúde sobre fissura labiopalatina (2004) Rev Soc Bras Fonoaudiol, 9, pp. 93-101Schardosim, L.R., Nogueira, D.A., Bosco, V.L., Pereima, M.J., Bebês portadores de fissura labiopalatal: Satisfação dos pais com as orientações recebidas dos profissionais (2004) JBP Rev Ibero-am Odontopediatr Odontol Bebe, 7, pp. 568-573Amstalden-Mendes, L.G., Gil-da-Silva-Lopes, V.L., Fenda de lábio e ou palato: Recursos para alimentação antes da correção cirúrgica (2006) Rev Cienc Med, 15, pp. 437-448. , CampinasVieira, G.O., Martins, C.C., Vieira, T.O., De Oliveira, N.F., Silva, L.R., Factors predicting early discontinuation of exclusive breastfeeding in the first month of life (2010) J Pediatr, 86, pp. 441-444. , Rio

    Desequilíbrios genômicos na cardiopatia congênita sindrômica

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    To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). Results: Clinically significant copy number variations (CNVs ≥300. kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993. kb duplication in 15q21.1 and 706. kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. Conclusion: These data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD. © 2017 Sociedade Brasileira de Pediatria.To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 deletion, previously screen935497507FAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOCNPQ - CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO2008/10596-0, 2008/50421-4, 2009/08756-1, 2011/23794-7149600/2010-0, 471422/2011-8; 471422/2011-8; 2011/23794-7Identificar desequilíbrios genômicos patogênicos em pacientes que apresentam cardiopatias congênitas (CC) e anomalias extracardíacas e exclusão da síndrome de deleção 22q11.2 (SD22q11.2). Foram avaliados por microarray cromossômico (CMA) 78 pacientes neg

    Challenges and Obstacles for a Bouncing Universe in Brane Models

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    A Brane evolving in the background of a charged AdS black-hole displays in general a bouncing behaviour with a smooth transition from a contracting to an expanding phase. We examine in detail the conditions and consequences of this behaviour in various cases. For a cosmological-constant-dominated Brane, we obtain a singularity-free, inflationary era which is shown to be compatible only with an intermediate-scale fundamental Planck mass. For a radiation-dominated Brane, the bouncing behaviour can occur only for background-charge values exceeding those allowed for non-extremal black holes. For a matter-dominated Brane, the black-hole mass affects the proper volume or the expansion rate of the Brane. We also consider the Brane evolving in an asymmetric background of two distinct charged AdS black hole spacetimes being bounded by the Brane and find that, in the case of an empty critical Brane, bouncing behaviour occurs only if the black-hole mass difference is smaller than a certain value. The effects of a Brane curvature term on the bounce at early and late times are also investigated.Comment: 23 pages, Latex file, comments and references added, version to appear in Phys. Rev.

    Theoretical study of lepton events in the atmospheric neutrino experiments at SuperK

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    Super-Kamiokande has reported the results for the lepton events in the atmospheric neutrino experiment. These results have been presented for a 22.5kT water fiducial mass on an exposure of 1489 days, and the events are divided into sub-GeV, multi-GeV and PC events. We present a study of nuclear medium effects in the sub-GeV energy region of atmospheric neutrino events for the quasielastic scattering, incoherent and coherent pion production processes, as they give the most dominant contribution to the lepton events in this energy region. We have used the atmospheric neutrino flux given by Honda et al. These calculations have been done in the local density approximation. We take into account the effect of Pauli blocking, Fermi motion, Coulomb effect, renormalization of weak transition strengths in the nuclear medium in the case of the quasielastic reactions. The inelastic reactions leading to production of leptons along with pions is calculated in a Δ\Delta - dominance model by taking into account the renormalization of Δ\Delta properties in the nuclear medium and the final state interaction effects of the outgoing pions with the residual nucleus. We present the results for the lepton events obtained in our model with and without nuclear medium effects, and compare them with the Monte Carlo predictions used in the simulation and the experimentally observed events reported by the Super-Kamiokande collaboration.Comment: 23 pages, 13 figure
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