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1.
Retina ; 29(5): 631-7, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-19262439

RESUMO

PURPOSE: The purpose of this study is to document the appearance of macular toxoplasmosis scars with the high-resolution cross-sectional retinal imaging technique of optical coherence tomography (OCT) and investigate whether a correlation exists between the morphology of the toxoplasmosis scars, the OCT images, and visual acuity. METHODS: In this retrospective observational case series, fundus photos were taken of the macular lesions that were also documented by OCT. Photos were digitized for the purpose of sizing lesions. All images were classified by the authors. RESULTS: There were 10 consecutive patients (13 eyes) whose average age is 13.0 years. Macular lesions ranged from 1.6 mm2 to 20.2 mm2. OCT features included retinal thinning, retinal pigment epithelial hyperreflectivity, excavation, intraretinal cysts, and fibrosis. Patients with better than expected vision had either parafoveal lesions or an intact neurosensory layer. CONCLUSION: The most characteristic OCT features in this young population were prominent retinal thinning, retinal pigment epithelium hyperreflectivity, and excavation of varying severity. OCT imaging is helpful in explaining better than expected vision.


Assuntos
Doenças da Coroide/diagnóstico , Macula Lutea/patologia , Doenças Retinianas/diagnóstico , Tomografia de Coerência Óptica/métodos , Toxoplasmose Ocular/congênito , Toxoplasmose Ocular/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos , Acuidade Visual , Adulto Jovem
2.
Ophthalmic Genet ; 31(4): 227-9, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21067485

RESUMO

BACKGROUND: Wolfram syndrome is characterized by optic atrophy, insulin dependent diabetes mellitus, diabetes insipidus and deafness. There are several other associated conditions reported in the literature, but congenital or early childhood cataracts are not among them. MATERIALS AND METHODS: Observational case series with confirmatory genetic analysis. RESULTS: A pair of siblings, followed over 17 years, who manifest congenital or early childhood cataracts, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. They are both compound heterozygotes for mutations (V415 deletion and A684V substitution) in the WFS1 gene. Their father has congenital sensorineural hearing loss and developed optic atrophy. He is heterozygous for A684V in WFS1. CONCLUSIONS: Wolfram syndrome should be in the differential diagnosis of genetic syndromes associated with congenital and early childhood cataracts. Here, we report on a mother who is a phenotypically normal carrier of an autosomal recessive Wolfram syndrome gene, and a father who has some of the findings of the syndrome and carries a single mutation that appears to be responsible for his hearing loss and optic atrophy. Their 2 children are compound heterozygotes and manifest the full Wolfram syndrome, in addition to cataracts.


Assuntos
Catarata/congênito , Proteínas de Membrana/genética , Mutação , Síndrome de Wolfram/genética , Pré-Escolar , Diagnóstico Diferencial , Feminino , Perda Auditiva Neurossensorial/congênito , Heterozigoto , Humanos , Lactente , Masculino , Atrofia Óptica/genética , Irmãos , Acuidade Visual , Síndrome de Wolfram/diagnóstico
4.
Proc Natl Acad Sci U S A ; 101(32): 11821-6, 2004 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-15289600

RESUMO

FtsZ, the ancestral homolog of eukaryotic tubulins, is a GTPase that assembles into a cytokinetic ring structure essential for cell division in prokaryotic cells. Similar to tubulin, purified FtsZ polymerizes into dynamic protofilaments in the presence of GTP; polymer assembly is accompanied by GTP hydrolysis. We used a high-throughput protein-based chemical screen to identify small molecules that target assembly-dependent GTPase activity of FtsZ. Here, we report the identification of five structurally diverse compounds, named Zantrins, which inhibit FtsZ GTPase either by destabilizing the FtsZ protofilaments or by inducing filament hyperstability through increased lateral association. These two classes of FtsZ inhibitors are reminiscent of the antitubulin drugs colchicine and Taxol, respectively. We also show that Zantrins perturb FtsZ ring assembly in Escherichia coli cells and cause lethality to a variety of bacteria in broth cultures, indicating that FtsZ antagonists may serve as chemical leads for the development of new broad-spectrum antibacterial agents. Our results illustrate the utility of small-molecule chemical probes to study FtsZ polymerization dynamics and the feasibility of FtsZ as a novel therapeutic target.


Assuntos
Proteínas de Bactérias/antagonistas & inibidores , Proteínas do Citoesqueleto/antagonistas & inibidores , Inibidores Enzimáticos/farmacologia , Antibacterianos/química , Antibacterianos/farmacologia , Biopolímeros/antagonistas & inibidores , Avaliação Pré-Clínica de Medicamentos/métodos , Inibidores Enzimáticos/química , Escherichia coli/efeitos dos fármacos , Escherichia coli/enzimologia , Escherichia coli/crescimento & desenvolvimento , Mycobacterium tuberculosis/efeitos dos fármacos , Mycobacterium tuberculosis/enzimologia , Mycobacterium tuberculosis/crescimento & desenvolvimento , Conformação Proteica/efeitos dos fármacos , Relação Estrutura-Atividade
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