portuguese/atrophie

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A Portuguese case of Hirayama disease.

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Hirayama disease, also known as monomelic amyotrophy or juvenile spinal muscular atrophy of the distal upper extremity features the impairment of the anterior horn cells of the distal cervical spinal cord secondary to dural sac anterior displacement during cervical flexion. We describe a case of a

Dilated cardiomyopathy in juvenile Portuguese Water Dogs.

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Dilated cardiomyopathy recently has been recognized in juvenile Portuguese Water Dogs. The purpose of this study was to evaluate unaffected and affected puppies by physical examination, electrocardiogram (ECG), echocardiogram, specific biochemical assays, and ultrastructure to document disease

Cerebellar cortical abiotrophy in two Portuguese Podenco littermates.

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Cerebellar cortical abiotrophy in two Portuguese Podenco littermates is reported and discussed. The disease is characterized by progressive cerebellar ataxia with an early onset of two to three weeks. Extensive loss, degeneration, and necrosis of Purkinje cells particularly involved the cerebellar

[Hereditary neuropathic Portuguese type of amyloidosis (author's transl)].

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Report of a 35 year old male with hereditary neuropathic amyloidosis of the portuguese type, the second known case in Germany. There are extensive nodular Congo red positive amyloid deposits in the endoneurium of the peripheral nerves which lead to displacement, compression atrophy and interruption

Survey of butyltin contamination in Portuguese coastal environments.

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Butyltin compounds (MBT, DBT and TBT) in intertidal sediments collected in four different Portuguese coastal environments have been measured in order to evaluate the extent of contamination. The sites chosen were the Rias of Aveiro and Faro, and the Sado and Tejo estuaries. These zones were

[Speech fluency developmental profile in Brazilian Portuguese speakers].

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BACKGROUND speech fluency varies from one individual to the next, fluent or stutterer, depending on several factors. Studies that investigate the influence of age on fluency patterns have been identified; however these differences were investigated in isolated age groups. Studies about life span

Length-dependent degeneration of fibers in Portuguese amyloid polyneuropathy: a clinicopathologic study.

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We investigated two patients with Portuguese amyloid polyneuropathy to learn more about the role played by amyloid in this condition. In sural nerves, axonal loss predominated in unmyelinated axons. Different abnormalities of single fibers near amyloid deposits included distortion of the myelin

Aqueous outflow system in familial amyloidotic polyneuropathy, Portuguese type.

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Familial amyloidotic polyneuropathy (FAP) is a hereditary disease which may present a wide range of ocular manifestations. Glaucoma is amongst the most serious complications of FAP. We report the results of ultrastructural study of the trabecular meshwork in a glaucomatous patient with the

Age relationships of postmortem observations in Portuguese Water Dogs.

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A dog model has been used to evaluate histological changes arising from senescence. Autopsies of 145 Portuguese Water Dogs have been used to evaluate the individual and group "state of health" at time of death. For each dog, weights or dimensions of organs or tissues were obtained, together with

Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin.

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Dentatorubropallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by a variable combination of progressive ataxia, epilepsy, myoclonus, choreoathetosis and dementia. This disease is caused by a (CAG)(n) expansion in the DRPLA gene, on chromosome 12p13.

Qualitative assessment of online information about age-related macular degeneration available in Portuguese.

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OBJECTIVE To evaluate the quality of online information on age-related macular degeneration available in Portuguese. METHODS The search term "age-related macular degeneration" was used to browse the web using four different search engines. The first 40 websites appearing on match lists provided by

Health-related quality of life in Portuguese patients with narcolepsy.

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OBJECTIVE To evaluate the perception of health-related quality of life (HRQoL) in Portuguese patients with narcolepsy, and to compare the results to normative data. METHODS Fifty-one narcoleptic adults (26M, 25F), aged between 18 and 80 years (mean=43.35, SD=15.32), were included in the final

[Familial portuguese type amyloid polyneuropathy. Attempt at a pathogenetic interpretation].

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The pathogenesis of familial portuguese amyloid polyneuropathy, a form of hereditary peripheral neuropathy is at present uncertain. Our hypothesis is that there may be a genetic modification in the metabolism of the Schwann cell. Normally this cell produces myelin, however with genetic modification

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.

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BACKGROUND The recessive ataxias are a heterogeneous group of neurodegenerative disorders characterized by cerebellar ataxia associated with a number of different neurologic, ophthalmologic, or general signs. They are often difficult to classify in clinical terms, except for Friedreich ataxia,

Depression and neurocognitive performance in Portuguese patients infected with HIV.

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This study focused on neurocognitive disorders associated with HIV infection, characterizes the most affected neuropsychological domains and their potential as factors related with depression. 130 HIV-positive individuals with CD4 >200 cells/mm(3), undetectable viral load, treated with HAART and

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