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1.
Neurodiagn J ; 53(2): 169-78, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23833843

RESUMO

A 29-year-old woman has a history of developmental delay and focal segmental glomerulosclerosis resulting in kidney failure. She underwent renal transplant which unfortunately failed, and is on hemodialysis as well as immunosuppression including tacrolimus. She was recently hospitalized for urosepsis requiring intensive treatment with vasopressors and multiple antibiotics. Soon after discharge, she was noted to have unstable gait, multifocal twitches, falls, and very brief episodes of staring or inattentiveness. She was readmitted. Her head CT was normal and lumbar puncture was negative. A bedside EEG was requested and showed an unusual response during photic stimulation.


Assuntos
Eletroencefalografia/métodos , Epilepsias Mioclônicas/classificação , Epilepsias Mioclônicas/diagnóstico , Estimulação Luminosa/métodos , Transtornos de Fotossensibilidade/classificação , Transtornos de Fotossensibilidade/diagnóstico , Adulto , Diagnóstico Diferencial , Feminino , Humanos
2.
J Biol Chem ; 278(19): 16587-94, 2003 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-12606541

RESUMO

The development of high myopia is associated with reduced scleral collagen accumulation, scleral thinning, and loss of scleral tissue, in both humans and animal models. Reduced collagen fibril diameter is also observed in the sclera of eyes with high myopia. The present study investigated aspects of scleral collagen synthesis and degradation, in a mammalian model of high myopia, to elucidate the factors underlying scleral changes. General synthesis and degradation of scleral collagen was investigated in monocularly deprived tree shrews, through the in vivo administration of [(3)H]proline and subsequent assay of scleral tissue for [(3)H]collagen. In addition, PCR enriched cDNA, produced from tree shrew scleral mRNA, was used to synthesize probes for hybridization to custom gene arrays consisting of partial sequences for 11 collagen subtypes. Finally, real-time reverse transcriptase-PCR was employed to investigate collagen type I, III, and V mRNA expression in the sclera of myopic, contralateral control, and normal tree shrew eyes. Scleral [(3)H]proline incorporation was reduced at the posterior pole of myopic eyes following 5 days of monocular deprivation (-36 +/- 4%), whereas [(3)H]proline content was similar in treated and control eyes before myopia induction (-1 +/- 8%) but was reduced in myopic eyes following 5 (-8 +/- 2%), 12 (-15 +/- 4%), and 24 (-10 +/- 4%) days of myopia induction. The majority of the collagens investigated were found to be expressed in the sclera, with 11 subtypes being identified. Collagen type I mRNA expression was reduced in the sclera of myopic eyes (-20 +/- 7%), however, collagen type III (+2 +/- 9%) and type V (-1 +/- 6%) expression was unchanged relative to control, resulting in a net increase in the ratio of expression of collagen type III/type I and collagen type V/type I (22 and 25%, respectively). These results show that reduced scleral collagen accumulation in myopic eyes is a result of both decreased collagen synthesis and accelerated collagen degradation. Furthermore, changes in collagen synthesis are driven by reduced type I collagen production. Short term increases in the ratio of newly synthesized collagen type III/type I and type V/type I are likely to be important in the increasing frequency of small diameter scleral collagen fibrils observed in high myopia and may be important in the subsequent development of posterior staphyloma in humans with pathological myopia.


Assuntos
Colágeno/biossíntese , Miopia/metabolismo , Esclera/metabolismo , Animais , Colágeno/genética , Regulação da Expressão Gênica , Humanos , Miopia/genética , Tupaia
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