night blindness/crise epiléptica

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Case of convulsive seizure developing during electroretinographic recordings: a case report.

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BACKGROUND To present our findings in a case of convulsive seizures and loss of consciousness that developed during recording electroretinograms (ERG). METHODS A 34-year-old man had reduced vision in his left eye for about 15 years, and night blindness for about two years. His visual acuity was

Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia.

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We describe two siblings, a boy and his younger sister, with degenerative neurological disturbances, hypocupraemia and hypobetalipoproteinaemia. The neurological features in both cases were developmental delay, dysarthria, hyperkinetics with an attention deficit, dysdiadochokinesis, night blindness,

Hypovitaminosis A in feedlot cattle.

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Hypovitaminosis A was diagnosed in a group of feedlot cattle that had been fed a diet low in carotene for 18 months. The primary signs of disease in the cattle were poor weight gain, ataxia, convulsions, night blindness, and total blindness. Serum vitamin A concentrations were used to confirm the

Disorders of membrane channels or channelopathies.

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OBJECTIVE To review the structure and function of membrane ion channels with special emphasis on inherited nervous system channel disorders or channelopathies. RESULTS Channels are pores in the cell membrane. Through these pores ions flow across the membrane and depolarize or hyperpolarize the cell.

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.

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OBJECTIVE To describe the clinical findings of a patient with an early onset retinal dystrophy and a novel mutation in OTX2, and to compare these findings with previously reported cases. METHODS Using direct sequencing, we screened 142 patients, who had either Leber congenital amaurosis (LCA) or

Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.

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BACKGROUND The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, mental deterioration, seizures and visual loss secondary to retinal dystrophy. The juvenile type is of special interest to

Petaloid-pattern pigmentary retinopathy: a novel case report.

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We report the case of a 6-year-old girl with an unusual petaloid-pattern pigmentary retinopathy associated with nyctalopia and reduction of vision which had been invariably static over the past 5 years. We performed a comprehensive ophthalmic examination including fundoscopy, autofluorescent

Risk of Depressive Symptoms Associated with Morbidity in Postpartum Women in Rural Bangladesh.

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Objectives Depression following pregnancy is common, but its extent and association with maternal morbidity in the first 6 months postpartum have not been well described in low resource settings such as rural Bangladesh. Methods We used data from a population-based, community trial of approximately

Calcium channels and channelopathies of the central nervous system.

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Several inherited human neurological disorders can be caused by mutations in genes encoding Ca2+ channel subunits. This review deals with known human and mouse calcium channelopathies of the central nervous system (CNS). The human diseases comprise: 1) a recessive retinal disorder, X-linked

Voltage-gated ion channels and hereditary disease.

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By the introduction of technological advancement in methods of structural analysis, electronics, and recombinant DNA techniques, research in physiology has become molecular. Additionally, focus of interest has been moving away from classical physiology to become increasingly centered on mechanisms

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