Digeorge Syndrome
Mostrando 1-12 de 55 artigos, teses e dissertações.
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1. Polydatin protects H9c2 cells from hypoxia-induced injury via up-regulating long non-coding RNA DGCR5
Polydatin (PD), a monocrystalline polyphenolic drug mainly found in the roots of Polygonum cuspidatum, has various pharmacological activities. Long non-coding RNAs (lncRNA) DiGeorge syndrome critical region gene 5 (DGCR5) was found to participate in the suppression of multiple cancers. Here, we proposed to study the effect of PD on myocardial infarction (MI)
Braz J Med Biol Res. Publicado em: 05/12/2019
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2. ChIP-seq analysis of histone H3K9 trimethylation in peripheral blood mononuclear cells of membranous nephropathy patients
Membranous nephropathy (MN), characterized by the presence of diffuse thickening of the glomerular basement membrane and subepithelial in situimmune complex disposition, is the most common cause of idiopathic nephrotic syndrome in adults, with an incidence of 5-10 per million per year. A number of studies have confirmed the relevance of several experimental
Braz J Med Biol Res. Publicado em: 12/12/2013
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3. Contribuições para o estabelecimento de estratégias laboratoriais em genética para a saúde pública no Brasil utilizando a síndrome de deleção 22q11.2 como modelo / Contributions to the establishment of laboratory strategies in medical genetics for public health in Brazil, using the 22q11.2 deletion syndrome as a model
The introduction of new technologies of molecular diagnosis for health care has been a challenge in the last years, especially in Brazil, where the majority of the population is served by the public health system. The 22q11.1 deletion syndrome is the most common syndrome that has palatal anomalies as a major feature, with a prevalence of 1/4000 births. Consi
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 24/02/2012
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4. Investigação laboratorial da síndrome velocardiofacial e possíveis fenocópias / Laboratory investigations of the velocardiofacial syndrome and phenocopies possible
A Síndrome Velocardiofacial (SVCF), uma das formas do espectro da Síndrome de deleção 22q11.2, possui incidência de 1/4.000 a 1/6.000 nascimentos. Embora a microdeleção em 22q11.2 seja a principal causa da síndrome, cerca de 10 a 20% dos pacientes com características clínicas da SVCF não a apresentam. Em alguns indivíduos com características cli
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 29/07/2011
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5. Esquizofrenia e síndrome da deleção 22q11.2: Caracterização de genes relevantes. / Schizophrenia; deletion syndrome; genes
Background: Schizophrenia is a severe, persistent, debilitating and poorly understood psychiatric disorder. It is a complex disease with heterogeneous fenotype. Among the genetic factors that might have a role in schizophrenia, it is included 22q11.2 deletion. Objectives: We aimed to investigate chromosomal abnormalities, UFD1L and ZDHHC8 polymorphisms, TBX1
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 22/02/2011
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6. Síndrome de deleção 22q11.2 e cardiopatias congênitas
OBJETIVO: Revisar as características clínicas, etiológicas e diagnósticas da síndrome de deleção 22q11 e sua associação com as cardiopatias congênitas. FONTES DOS DADOS: Foram pesquisados artigos científicos presentes nos portais Medline, Lilacs e SciELO, utilizando-se descritores específicos como "22q11", "DiGeorge syndrome", "velocardiofacial s
Revista Paulista de Pediatria. Publicado em: 2011-06
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7. DiGeorge Syndrome: a not so rare disease
INTRODUCTION: The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite
Clinics. Publicado em: 2010
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8. avaliação de pacientes com o espectro clínico da síndrome da deleção 22q11.2 através de hibridização in situ por fluorescência e da técnica multiplex ligation-dependent probe amplification / Evaluation of patients with the clinical spectrum of deletion 22q11.2 syndrome by hybridization in situ fluorescent and multiplex ligation-dependent probe amplification
Objetivo: Investigar pacientes com sinais fenotípicos da síndrome da deleção 22q11.2 quanto à presença, origem e extensão da deleção 22q11.2, bem como avaliar outras regiões genômicas relacionadas à síndrome. Ainda, correlacionar os diferentes segmentos deletados com o fenótipo dos indivíduos. Métodos: Investigação citogenética e molecular
Publicado em: 2010
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9. Tooth abnormalities, soft tissue changes and craniofacial morphology in patients with velocardiofacial syndrome and G/BBB syndrome / Disgenesias dentárias, alterações de tecido mole e morfologia craniofacial em pacientes com síndrome velocardiofacial e síndrome G/BBB
This study investigated the prevalence of tooth abnormalities, soft tissue changes and cephalometric analysis in patients with velocardiofacial syndrome and G/BBB syndrome. The presence of tooth abnormalities was evaluated in patients older than six years; cephalometric analysis was conducted on lateral cephalograms obtained before any orthodontic interventi
Publicado em: 2007
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10. High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups
Congenital heart defects are the most common of all human birth defects. Numerous studies have shown that a deletion within chromosome 22q11 is associated with DiGeorge syndrome and certain forms of sporadic congenital cardiovascular disease. We have determined the value of a PCR assay using markers D22S941, D22S944 and D22S264 designed for the screening of
Brazilian Journal of Medical and Biological Research. Publicado em: 2003-10
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11. Noonan's and DiGeorge syndromes with monosomy 22q11.
A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported. He had a normal karyotype but molecular analysis revealed a submicroscopic deletion within chromosome 22q11, the region deleted in DiGeorge syndrome. Thus this child
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12. Live viral vaccines in a DiGeorge syndrome patient
We report a case of pneumonia in a 13 month old male child with partial DiGeorge syndrome who died after inadvertently receiving live viral vaccines. Although live viral vaccines have been used safely in some children with DiGeorge syndrome, there are insufficient data to recommend their routine use in those with severe immunodeficiency.
BMJ Group.