Encontrados 15 documentos, a visualizar página 1 de 2
Ryanodine myopathies without central cores-clinical, histopathologic, and genet...
Rocha, J; Taipa, R; Melo Pires, M; Oliveira, J; Santos, R; Santos, MBACKGROUND: Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS: Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness from age 5, presenting with a progressive scoliosis starting at age 10. Patient 2 is an 18-yea...
Lesão Renal Aguda e Rabdomiólise como Apresentação da Doença de Mcardle
Costa, R.; Castro, R.; Costa, A.; Taipa, R.; Viscaíno, R.; Morgado, T.A doença de McArdle apresenta-se tipicamente por mialgias, intolerância aos esforços, cãibras e mioglobinúria na infância ou jovens adultos. A deficiência hereditária da enzima miofosforílase incapacita a degradação de glicogénio, com consequente acumulação no tecido muscular e défice energético. A rabdomiólise pode ocorrer e complicar-se de lesão renal aguda mas raramente, em cerca de 11% dos casos, é manifest...
Hereditary neuropathy with liability to pressure palsy: a recurrent and bilater...
Flor-de-Lima, F.; Macedo, L.; Taipa, R.; Melo-Pires, M.; Rodrigues, M.Hereditary neuropathy with liability to pressure palsy is characterized by acute, painless, recurrent mononeuropathies secondary to minor trauma or compression. A 16-year-old boy had the first episode of right foot drop after minor motorcycle accident. Electromyography revealed conduction block and slowing velocity conduction of the right deep peroneal nerve at the fibular head. After motor rehabilitation, he f...
Expanding the MTM1 mutational spectrum: novel variants including the first mult...
Oliveira, J.; Oliveira, M.; Kress, W.; Taipa, R.; Melo-Pires, M.; Hilbert, P.; Baxter, P.; Santos, M.; Buermans, H.; den Dunnen, J.; Santos, R.Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes myotubularin - a lipidic phosphatase involved in vesicle trafficking regulation and maturation. Recently, it was shown that myotubularin interacts with desmin, being a major regulat...
Transient peripheral facial nerve paralysis after local anesthetic procedure
Rosmaninho, A.; Lobo, I.; Caetano, M.; Taipa, R.; Magalhães, M.; Costa, V.; Selores, M.Complications may arise after laser therapy of the face. The most common ones are bleeding and infections; facial nerve paresis or paralysis is rarely reported. We describe a case of a transient peripheral facial nerve paralysis after laser therapy of an epidermal verrucous nevus localized at the left preauricular area.
A case of haemophagocytic syndrome presenting with oculogyric crises
Taipa, R.; Moreira, B.; França, M.; Maia, L.Haemophagocytic lymphohistiocytosis (HLH), also called haemophagocytic syndrome (HPS), is a rare disorder resulting in abnormal proliferation of histiocytes in tissues and organs, including the CNS. HLH can present as a primary disease or occur as a secondary reactive disease. Clinical features are high fever, splenomegaly, cytopenia of two or more cell lines, hypertriglyceridaemia and haemophagocytosis. CNS in...
Kalirin: a novel genetic risk factor for ischemic stroke
Krug, T; Manso, H; Gouveia, L; Sobral, J; Xavier, J; Albergaria, I; Gaspar, G; Correia, M; Viana-Baptista, M; Simões, R; Pinto, A; Taipa, R; Ferreira, CCerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene with susceptibility to cardiovascular and metabolic phenotypes, but no studies have yet been perfo...
Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese pat...
Rosa, A; Fonseca, BV; Krug, T; Manso, H; Gouveia, L; Albergaria, I; Gaspar, G; Correia, M; Viana-Baptista, M; Simões, RM; Pinto, AN; Taipa, RBACKGROUND: The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been intensely investigated so far. Mitochondrial DNA (mtDNA) has been implicated in several disorders having stroke as one of its clinical manifestations. The aim of this case-control study was to ...
Kalirin: a novel genetic risk factor for ischemic stroke
Krug, T; Manso, H; Gouveia, L; Sobral, J; Xavier, JM; Albergaria, I; Gaspar, G; Correia, M; Viana-Baptista, M; Simões, RN; Pinto, AN; Taipa, RCerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene with susceptibility to cardiovascular and metabolic phenotypes, but no studies have yet been perfo...
Kalirin: a novel genetic risk factor for ischemic stroke
Krug, T; Manso, H; Gouveia, L; Sobral, J; Xavier, JM; Albergaria, I; Gaspar, G; Correia, M; Viana-Baptista, M; Simões, RN; Pinto, AN; Taipa, RCerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene with susceptibility to cardiovascular and metabolic phenotypes, but no studies have yet been perfo...
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