Encontrados 16 documentos, a visualizar página 1 de 2
Síndrome metabólica e disfunção eréctil - avaliação de parâmetros clínicos e he...
Figueiredo, Luís Pacheco; Neves, Eduardo; Coutinho, P.; Botelho, Francisco; Tomada, Inês; Tomada, Nuno"Article in press"
Massa eritematosa lingual: que etiologia?
Santos, P.; Espada, F.; Neves, M.; Coutinho, P.; Bianchi, F.; Fonseca, M.A tiróide lingual é uma entidade clínica rara, que resulta da localização ectópica de tecido tiroideu por ausência de migração embrionária da glândula tiroideia do foramen caecum para a localização pré-traqueal final. Habitualmente assintomática, pode no entanto ser detectada no exame físico de rotina da orofaringe ou no contexto de infecção das vias aéreas superiores. Pode também manifestar-se por disfagia, di...
Familial osteopetrosis in Agouti paca: report of nine cases
Coutinho,P.S.; Ocarino,N.M.; Ferreira,M.B.; Resende,R.; Silva,V.L.; Guedes,R.M.C.; Serakides,R.Nine cases of familial osteopetrosis were studied in Agouti paca rodents maintained in captivity. Animals were distributed in three groups depending on the severity of their skeletal lesions. Based upon clinical, radiological, and microscopic findings, it was concluded that one animal had level I lesions, three animals had level II lesions, and five animals had level III osteopetrosis and osteonecrosis. Through...
Lesões hipopigmentadas na criança
Coutinho, P.; Machado, S.As hipopigmentações cutâneas nas crianças são um motivo frequente de consulta em dermatologia pediátrica. Com um diagnóstico essencialmente clínico, acarretam por vezes alguma dificuldade no diagnóstico diferencial e podem indiciar importantes doenças multissistémicas. Neste artigo faz-se uma abordagem das principais lesões hipopigmentadas das crianças, dividindo-as de acordo com a sua extensão e altura de apar...
Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia
Coutinho, P.; Cruz, V.; Tuna, A.; Silva, S.; Guimarães, J.Background: Although mentioned in most series, “pure” autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds. Objective: To describe Portuguese families with a peculiar pure form of dominant ataxia that, to our knowledge, has never been documented before and in which cerebellar signs are preceded by spasmodic cough. Patients: Through a pop...
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14
Alonso, I; Costa, C; Gomes, A; Ferro, A; Seixas, A; Silva, S; Cruz, V; Coutinho, P; Sequeiros, J; Silveira, ISpinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder, first described in a Japanese family, showing linkage to chromosome 19q13.4-qter. Recently, mutations have been identified in the PRKCG gene in families with SCA14. The PRKCG gene encodes the protein kinase Cgamma (PKCgamma), a member of a serine/threonine kinase family involved in signal transduction important for sever...
Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene...
Lima, M.; Costa, Maria do Carmo; Montiel, R.; Ferro, Anabela; Santos, C.; Silva, C.; Bettencourt, C.; Sousa, Alda; Sequeiros, Jorge; Coutinho, P.To gain insights on the molecular mechanisms of mutation that led to the emergence of expanded alleles in the MJD gene, by studying the behavior of wild-type alleles and testing the association of its distribution with the representation of the disease. Methods: The number of CAG motifs in the MJD gene was determined in a representative sample of 1000 unrelated individuals. Associations between the repeat size ...
Neuroferritinopathy : missense mutation in FTL causing early-onset bilateral pa...
Maciel, P.; Cruz, V. T.; Constante, M.; Iniesta, I.; Costa, Maria do Carmo; Gallati, S.; Sousa, Nuno; Sequeiros, Jorge; Coutinho, P.; Santos, M. M.The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis. This mutation was also present in his asymptomatic mother and younger brother, who had abnormally low levels of ferritin in the serum. The patient and his mother displayed bilateral involvement of the pallidum.
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apr...
Moreira, M.C.; Klur, S.; Watanabe, M.; Németh, A.H.; Le Ber, I.; Moniz, J.C.; Tranchant, C.; Aubourg, P.; Tazir, M.; Schöls, L.; Pandolfo, M.Nat Genet. 2004 Mar;36(3):225-7. Epub 2004 Feb 8. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice ...
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine ca...
Alonso, I.; Barros, J.; Tuna, A.; Coelho, J.; Sequeira, J.; Silveira, I.; Coutinho, P.Background: Different mutations in the 1A-subunit of the brain P/Q-type calcium channel gene (CACNA1A) are responsible for familial hemiplegic migraine (FHM), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6). Missense and splice site mutations have been found in FHM and episodic ataxia type 2, respectively, whereas a CAG repeat in the CACNA1A gene was found expanded in patients with SCA6. Objec...
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