Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Adicionar filtros








Intervalo de ano
1.
Egyptian Journal of Medical Human Genetics [The]. 2009; 10 (2): 118-128
em Inglês | IMEMR | ID: emr-97435

RESUMO

Although prevention is the ideal goal for genetic disorders, various types of therapeutic management are available. Such management approaches depend on the nature of the defect, how well it is understood at the genetic and biochemical levels and the practical feasibility of correction. In some conditions certain management is now tailored to the specific genotype. The patient being treated may be the fetus, the infant, the child or the adult. Treatment methods used in genetic disorders may involve surgical, cognitive/behavioral, pharmacologic, dietary, envairomental avoidance, transfusion, plasma exchange, enzyme, behavioral, cell, or gene therapy. Some have been developed on the basis of knowledge of the defect in the gene and its product, whereas others are empirical or aimed at controlling or mediating signs and symptoms without care


Assuntos
Terapia Genética , Terapias Fetais
2.
Egyptian Journal of Medical Human Genetics [The]. 2006; 7 (1): 47-73
em Inglês | IMEMR | ID: emr-76549

RESUMO

The present work comprised 30 patients belonging to 27 families. The age of the studied patients ranged from 7 months to 10 years [mean 43.9 +/- 27.69 months]. The age of onset of the disease ranged from 7 months to 5 years [mean 17.26 +/- 13.3 months]. All patients suffered from developmental delay or progressive loss of previously acquired milestones, with no coarse facial features, organomegaly or ectodermal abnormality. For all patients the following was done: - Full medical history, thorough clinical examination and family pedigree construction. - Fundus examination and nerve conduction velocity [NCV]. - MRI of brain and IQ assessment. - Measurement of arylsulphatase A, galactocerebroside: beta-galactosidase activity in peripheral leucocyte was also done together with chitotriosidase level in plasma. Twenty two patients [73.33%] had normal fundus examination, and eight patients [26.66%] had various fundus findings [three patients [10%] had pale optic disc, and five patients [16.66%] had optic atrophy] - Twenty five patients [83.33%] had normal NCV, and five patients [16.66%] had demyelination. - All patients had +ve MRI findings, 19 patients [63.33%] had dysmyelination and 11 patients [36.33%] had brain atrophy. - Twenty six patients had normal value of Aryl sulphatase A activity [ASA] [51-200 micro mol/g- p/h], while three cases demonstrated decreased activity [one case had pseudodeficiency value [10-50 micro mol/g-p/h], and two cases had actual deficiency of enzyme activity [<10 micro mol/g -p/h] and diagnosed as metachromatic leukodystrophy]. - Twenty eight patients had normal value of Chitotriosidase activity [CT] [4-80 micro mol/l/h] and one patient had high value. - Galactocerebroside beta-galactosidase activity [GALC] was measured in leukocytes for 29 index cases. Normal value was detected in all cases [0.5-4 micro mol/g-p/h]. One case [3.33%] had Gaucher disease, another had aryl sulfatase A pseudodeficiency and a third case had most probably Pelizaeus Merzbach disease, two cases had infantile Metachromatic leukodystrophy [6.66%], while another two had congenital muscular dystrophy. All other patients need further follow up and further investigations


Assuntos
Humanos , Masculino , Feminino , Prevalência , Lipidoses/epidemiologia , Criança , Imageamento por Ressonância Magnética , Oftalmoscópios , Arilsulfatases , Galactosilceramidas , beta-Galactosidase , Seguimentos , Tomografia Computadorizada por Raios X
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA