Base de dados : LILACS
Pesquisa : D12.644.276.374.750.186 [Categoria DeCS]
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Texto completo SciELO Brasil
Cavalcante, Leny A
Allodi, Silvana
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Id: biblio-890761
Autor: Carvalho, Litia Alves de; Fleming, Renata; Sant'Anna, Moysés; Guimarães, Roberta; Dantas, Adalmir Morterá; Morizot-Leite, Eduardo; Cavalcante, Leny A; Allodi, Silvana.
Título: Neuroprotective effects of erythropoietin on rat retinas subjected to oligemia
Fonte: Clinics;73:e161, 2018. graf.
Idioma: en.
Resumo: OBJECTIVES: Erythropoietin may have neuroprotective potential after ischemia of the central nervous system. Here, we conducted a study to characterize the protective effects of erythropoietin on retinal ganglion cells and gliotic reactions in an experimentally induced oligemia model. METHODS: Rats were subjected to global oligemia by bilateral common carotid artery occlusion and then received either vehicle or erythropoietin via intravitreal injection after 48 h; they were euthanized one week after the injection. The densities of retinal ganglion cells and contents of glial fibrillary acidic protein (astrocytes/Müller cells) and cluster of differentiation 68 clone ED1 (microglia/macrophages), assessed by fluorescence intensity, were evaluated in frozen retinal sections by immunofluorescence and epifluorescence microscopy. RESULTS: Retinal ganglion cells were nearly undetectable one week after oligemia compared with the sham controls; however, these cells were partially preserved in erythropoietin-treated retinas. The contents of glial fibrillary acidic protein and cluster of differentiation 68 clone ED1, markers for reactive gliosis, were significantly higher in retinas after bilateral common carotid artery occlusion than those in both sham and erythropoietin-treated retinas. CONCLUSIONS: The number of partially preserved retinal ganglion cells in the erythropoietin-treated group suggests that erythropoietin exerts a neuroprotective effect on oligemic/ischemic retinas. This effect could be related to the down-modulation of glial reactivity, usually observed in hypoxic conditions, clinically observed during glaucoma or retinal artery occlusion conditions. Therefore, glial reactivity may enhance neurodegeneration in hypoxic conditions, like normal-tension glaucoma and retinal ischemia, and erythropoietin is thus a candidate to be clinically applied after the detection of decreased retinal blood flow.
Descritores: Células Ganglionares da Retina/efeitos dos fármacos
Eritropoetina/farmacologia
Fármacos Neuroprotetores/farmacologia
Proteína Glial Fibrilar Ácida/efeitos dos fármacos
-Doenças Retinianas/patologia
Contagem de Células
Fatores de Crescimento de Células Hematopoéticas/farmacologia
Ratos Wistar
Artéria Carótida Primitiva/cirurgia
Lesões das Artérias Carótidas/cirurgia
Modelos Animais de Doenças
Ectodisplasinas/efeitos dos fármacos
Limites: Animais
Masculino
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Id: biblio-838148
Autor: Callea, Michele; Yavuz, Izzet; Clarich, Gabriella; Cammarata-Scalisi, Francisco.
Título: Estudio clínico y molecular en un escolar con displasia ectodérmica hipohidrótica ligada al X / Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia
Fonte: Arch. argent. pediatr;113(6):e341-e344, dic. 2015. ilus.
Idioma: es.
Resumo: Las displasias ectodérmicas comprenden más de 200 entidades clínicamente distintivas, las cuales afectan, al menos, dos estructuras derivadas del ectodermo, que incluyen la piel, el pelo, las unas, los dientes, las glándulas sudoríparas y sebáceas. La displasia ectodérmica hipohidrótica ligada al X es el tipo más frecuente y es causada por mutación del gen EDA, que codifica la ectodisplasina-A. Su frecuencia es menor de 1 en 100000 individuos y se caracteriza clínicamente por presentar hipodoncia, hipohidrosis, hipotricosis y alteraciones oculares. Se expone el caso de un escolar evaluado de forma multidisciplinaria con diagnóstico clínico y molecular de displasia ectodérmica hipohidrótica ligada al X con mutación tipo cambio de sentido c.1133C>,T, p.T378M, en el gen EDA.

Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye dis orders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C> T; p.T378M in EDA gene.
Descritores: Displasia Ectodérmica Anidrótica Tipo 1/diagnóstico
Displasia Ectodérmica Anidrótica Tipo 1/genética
Ectodisplasinas/genética
Mutação
Limites: Humanos
Masculino
Criança
Tipo de Publ: Relatos de Casos
Responsável: AR94.1 - Centro de Información Pediatrica


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Id: lil-679328
Autor: Journal of Applied Oral Science; WANG, Jing; XU, Yuanzhi; CHEN, Jing; WANG, Feiyu; HUANG, Renhuan; WU, Songtao; SHU, Linjing; QIU, Jingyi; YANG, Zhi; XUE, Junjie; WANG, Raorao; ZHAO, Jilin; LAI, Wenli.
Título: PAX9 polymorphism and susceptibility to sporadic non-syndromic severe anodontia: a case-control study in southwest China
Fonte: J. appl. oral sci;21(3):256-264, May/Jun/2013. tab, graf.
Idioma: en.
Projeto: the Science & Technology Department of Sichuan Province; . Jiangsu Natural Science Foundation; . NSFC (National Natural Science Foundation of China.
Resumo: Our research aimed to look into the clinical traits and genetic mutations in sporadic non-syndromic anodontia and to gain insight into the role of mutations of PAX9, MSX1, AXIN2 and EDA in anodontia phenotypes, especially for the PAX9. Material and Methods The female proband and her family members from the ethnic Han families underwent complete oral examinations and received a retrospective review. Venous blood samples were obtained to screen variants in the PAX9, MSX1, AXIN2, and EDA genes. A case-control study was performed on 50 subjects with sporadic tooth agenesis (cases) and 100 healthy controls, which genotyped a PAX9 gene polymorphism (rs4904210). Results Intra-oral and panoramic radiographs revealed that the female proband had anodontia denoted by the complete absence of teeth in both the primary and secondary dentitions, while all her family members maintained normal dentitions. Detected in the female proband were variants of the PAX9 and AXIN2 including A240P (rs4904210) of the PAX9, c.148C>T (rs2240308), c.1365A>G (rs9915936) and c.1386C>T (rs1133683) of the AXIN2. The same variants were present in her unaffected younger brother. The PAX9 variations were in a different state in her parents. Mutations in the MSX1 and EDA genes were not identified. No significant diferences were found in the allele and genotype frequencies of the PAX9 polymorphism between the controls and the subjects with sporadic tooth agenesis. Conclusions These results suggest that the association of A240P with sporadic tooth agenesis still remains obscure, especially for different populations. The genotype/phenotype correlation in congenital anodontia should be verified. .
Descritores: Anodontia/genética
Predisposição Genética para Doença
Fator de Transcrição PAX9/genética
Polimorfismo Genético/genética
-Proteína Axina/genética
Estudos de Casos e Controles
China
Ectodisplasinas/genética
Frequência do Gene
Estudos de Associação Genética
Fator de Transcrição MSX1/genética
Linhagem
Radiografia Panorâmica
Estudos Retrospectivos
Limites: Feminino
Humanos
Masculino
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Id: lil-627596
Autor: Salas-Alanis, Julio C; Cepeda-Valdés, Rodrigo; González-Santos, Adriana; Amaya-Guerra, Mario; Kurban, Mazen; Christiano, Angela M.
Título: Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X / Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia
Fonte: Rev. méd. Chile;139(12):1601-1604, dic. 2011. ilus.
Idioma: es.
Resumo: Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Clinical characteristic are frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmenta-tion, and anodontia. Those affected show great intolerance to heat. We report the first Mexican 2-year-old boy with an Ala349Thr missense mutation from Tamaulipas, México.
Descritores: Displasia Ectodérmica Anidrótica Tipo 1/genética
Ectodisplasinas/genética
Mutação de Sentido Incorreto/genética
-Displasia Ectodérmica Anidrótica Tipo 1/patologia
Limites: Pré-Escolar
Humanos
Masculino
Tipo de Publ: Relatos de Casos
Responsável: CL1.1 - Biblioteca Central



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