Congenital Syndromes
Mostrando 13-24 de 89 artigos, teses e dissertações.
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13. Caracterização do espectro fenotípico de pacientes com fissuras labiopalatinas associadas a múltiplas anomalias congênitas e alterações cromossômicas estruturais / Characterization of phenotypic spectrum in patients with cleft lip and palate associated with multiple congenital anomalies and structural chromosome abnormalities
Objective: Characterization of syndromes presented by patients with cleft lip and palate (CL/P) associated with associated with multiple congenital anomalies (MMC) and chromosomal abnormalities and expansion of the phenotyipc spectrum of syndromes already described. Setting: Human Cytogenetics Laboratory and Clinical Genetics Service, HRAC-USP, Bauru-SP. Par
Publicado em: 2009
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14. Pequeno para a idade gestacional : neurodesenvolvimento no primeiro ano de vida / Small-for-gestational age : neurodevelopment in the first year of age
Intrauterine malnutrition has been associated to long-term neurological morbidity and the small for gestational age infant is considered as a model for study this propose. The objective of this study was to evaluate the neurodevelopmental indicators according to Bayley Scales of Infant Development of full-term small-for-gestational age (SGA) infants compared
Publicado em: 2009
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15. Perfil das crianças portadoras de disfagia orofaríngea associada às anomalias craniofaciais internadas no HRAC-USP / Profile of children with oropharyngeal dysphagia related to craniofacial deformities interned at HRAC-USP
Objective: To draw up guidelines for the treatment. Model: Retrospective analysis of historical of 236 children, during the period July 2003 to July 2006 and descriptive analysis of the results. Environment: Special Care Unit by HRAC-USP. Participants: 236 children with oropharyngeal dysphagia, aged 3 days to 8 years, 204 (86.4%) had cleft lip, and / or pala
Publicado em: 2008
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16. Caracterização sócio demográfica e resultados perinatais das gestações com diagnóstico ultra-sonográfico de malformação fetal maior avaliadas em centro de referência / Socio demographic characterization and perinatal outcome of pregnancies with ultrasonographic diagnosis of major fetal malformation in a referral centre
The purpose of this study is to describe the socio demographic profile and perinatal outcome of pregnant women with prenatal ultrasound diagnosis of major fetal malformation at the Hospital das Clínicas, São Paulo University Medical School. The study was performed from 15th December 2005 to 15th December 2006. Cases that were not confirmed and did not cons
Publicado em: 2008
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17. Clinical, genetic and molecular study of Rokitansky-Mayer-Küster-Hauser syndrome and related conditions / Estudo genético-clínico e molecular da síndrome de Rokitansky-Mayer-Küster-Hauser e condições afins
Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, comprising utero-vaginal atresia in otherwise phenotypically normal women with a normal karyotype (46,XX), has an incidence of about 1/5,000 among newborn girls. Anomalies of the genital tract range from upper vaginal atresia to total Müllerian agenesis (congenital absence of the Fallopian tubes,
Publicado em: 2008
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18. Cytogenetics investigation on orofacial cleft individuals and screening of informative cases for further studies / Investigação citogenetica em individuos com fendas orofaciais e triagem dos casos informativos para estudos especificos
Cleft lip with or without cleft palate (CL/P) occurs in approximately 1/500 to 1/1000 newborns and cleft palate (CP), etiologically distinct, in approximately 0,4/1000 newborns. They have a complex etiology, and the great majority of clefts appear to be isolated anomalies, in which have been observed a very important genetic component. However, in a signific
Publicado em: 2007
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19. Funções motoras em camundongos deficientes do transportador vesicular de acetilcolina (VAChT)
Acetylcholine (ACh)mediated neurotransmission has a crucial role in the control of movement. Release of ACh depends on its storage in synaptic vesicles, a step controlled by the activity of the VAChT. We developed a genetically altered strain of mice with reduced expression of this transporter. Heterozygous (VAChT KDHET) and homozygous (VAChT KDHOM) knockdow
Publicado em: 2006
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20. Analise da triagem auditiva por audiometria automatica de tronco encefalico de recem-nascidos internados em unidade de cuidados intensivos e intermediarios
The purpose of the present study was to check the prevalence of hearing impairment in newborns hospitalized at the Neonatal MCU, Medical School, University of Campinas, and analyze the risk indicators. We assessed 979 newborn babies using Automatic Auditory Brainstem Response (AABR) between January 2000 and January 2003, using the device branded ALGO, model
Publicado em: 2004
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21. Perfil epidemiológico das infecções causadas por vírus sincicial respiratório em crianças atendidas em hospital de Fortaleza - Ce / Epidemiology and clinical presentation of respiratory syncytial virus infections in Fortaleza city, Northeast Brazil
Respiratory syncytial virus (RSV) is detached as an important pathogen of lower respiratory tract infections (LRTI) in children, mainly in the first year of life. This study had as purposes: to determine the prevalence of RSV in cases of acute respiratory infections (ARIs) in children served in Albert Sabin Children Hospital, in Fortaleza CE, over the period
Publicado em: 2004
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22. Investigation of promoter region polymorphisms in the LEF 1 gene in individuals with hypodontia / Investigação de polimorfismos na região promotora do gene LEF 1 em individuos com agenesia dental
Numerous tenns have been used to describe congenital missing teeth. Hypodontia denotes congenital absence of one or a few teeth in the primary and/or permanent dentition. Agenesis of numerous teeth, commonly associated with specific syndromes and/or severe systemic abnornalities is classified as oligodontia. Anodontia, an extreme expression of oligodontia in
Publicado em: 2003
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23. O comportamento de lactentes nascidos a termo pequenos para a idade gestacional no primeiro trimestre de vida
The purpose of this study was to compare the behavior of full-term infants small-for-gestational age (SGA) with full-term infants appropriate-for-gestational age (AGA) , in the first months of life. This research design was double-blind prospective observational case-control study. Ethical permission was obtained from the Research Ethics Committee of the Sch
Publicado em: 2003
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24. Avaliação de funções visuomotoras em lactentes a termo pequenos para a idade gestacional no primeiro semestre de vida
The purpose of this study was to compare the mental and motor development and the visuomotor functions of full-term infants small-for-gestational age (SGA) with full-term appropriate-for-gestational age (AGA) infants in the first six months of life. The research design was a double-blind prospective observational case-control study. Ethical permission was ob
Publicado em: 2003