Navegando por Palavras-chave "Amyloidosis"
Agora exibindo 1 - 5 de 5
Resultados por página
Opções de Ordenação
- ItemSomente MetadadadosComparative fibril formation of analogs corresponding to the (12-24) segment of the beta-amyloid peptide(Springer, 2011-12-01) Malavolta, Luciana; Nakaie, Clovis R. [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Inst Israelita de Ensino & Pesquisa Albert EinsteThe (1-42) beta-amyloid peptide is a main component of the plaques found in the brain of patients suffering from the Alzheimer's disease. As the single substitution of Glu for Gln at position 22 of this peptide seems to be responsible for the manifestation of the more severe amyloidosis (Dutch-type), we decided to evaluate the aggregation characteristics of peptide analogs interchanging Glu and Gln residues at positions 22 and also 15 in the minor (12-24) (VHHQ(15)KLVFFAE(22)DV) fragment. the Q15Q22, E15E22, E15Q22 and the native Q15E22 were compared to the (1-42) beta-amyloid peptide in terms of fibril or structured aggregates formation propensity. in contrast to a rather similar solubility data measured of all analogs, fluorescence and light scattering methods indicated that only Q15E22 and Q15Q22 displayed relevant fibril formation capacity. Conversely, E15E22 and E15Q22 were not capable of the formation of this type of structure thus suggesting a key role for the Q(15) residue in the unique aggregation characteristic of the beta-amyloid peptide.
- ItemAcesso aberto (Open Access)Danish type gelsolin-related amyloidosis in a Brazilian family: case reports(Conselho Brasileiro de Oftalmologia, 2011-08-01) Solari, Helena Parente; Ventura, Marcelo Palis; Antecka, Emilia; Belfort, Rubens Junior [UNIFESP]; Burnier Júnior, Miguel Noel Nascente [UNIFESP]; Universidade Federal Fluminense; McGill University The Henry C. Witelson Ocular Pathology Laboratory; Universidade Federal de São Paulo (UNIFESP)Familial amyloidosis of the Finnish type (FAF) is an autosomal dominant form of systemic amyloidosis showing marked geographic clustering in Finland. The disease is caused by a point mutation, 654G-A, in the gelsolin gene. The Danish-subtype of FAF has been previously described in three families, the patients present clinical findings similar to FAF, and the mutation 654G-T in the gelsolin gene. Three members from two generations of the same family, with familial amyloidosis, were screened for mutations in the GSN gene. Genomic DNA was extracted from peripheral blood lymphocytes and the polymerase chain reaction (PCR) was carried out under standard conditions, using appropriate primers. Sequence analysis showed the presence of a G to T transition at nucleotide 654 of the gelsolin gene. This is the first report of gelsolin-related familial amyloidosis in a Brazilian family, and the result is particularly significant as this pedigree presents an unusual mutation, described previously in three families, with no known Finnish ancestors (Danish type).
- ItemSomente MetadadadosGuidelines for the management and treatment of periodic fever syndromes familial mediterranean fever(Elsevier science inc, 2016) Terreri, Maria Teresa R. A. [UNIFESP]; Bernardo, Wanderley Marques; Len, Claudio Arnaldo [UNIFESP]; Almeida da Silva, Clovis Artur; Ribeiro de Magalhaes, Cristina Medeiros; Sacchetti, Silvana B.; Leme Ferriani, Virginia Paes; Petry Piotto, Daniela Gerent [UNIFESP]; Cavalcanti, Andre de Souza; de Moraes, Ana Julia Pantoja; Sztajnbok, Flavio Roberto; Feitosa de Oliveira, Sheila Knupp; Arruda Campos, Lucia Maria; Bandeira, Marcia; Sena Teixeira Santos, Flavia Patricia; Magalhaes, Claudia SaadObjective: To establish guidelines based on scientific evidence for the management of familial Mediterranean fever. Description of the evidence collection method: The Guideline was prepared from 5 clinical questions that were structured through PICO (Patient, Intervention or indicator, Comparison and Outcome), to search in key primary scientific information databases. After defining the potential studies to support the recommendations, these were graduated considering their strength of evidence and grade of recommendation. Results: 10,341 articles were retrieved and evaluated by title and abstract
- ItemAcesso aberto (Open Access)Primary systemic amyloidosis associated with multiple myeloma(Sociedade Brasileira de Dermatologia, 2012-02-01) Oliveira, Ederson Valei Lopes De; Pozetti, Ana Carolina Garcia; Pozetti, Eurides Maria De Oliveira; Antonio, João Roberto; Michalany, Nilceo Schwery [UNIFESP]; Faculdade de Medicina de São José do Rio Preto; Universidade Federal de São Paulo (UNIFESP)This case report is about a 48-year-old female patient with systemic amyloidosis and multiple myeloma simultaneously. Amyloid cutaneous infiltrative lesions like papules, nodules, or plaques with a serous-hemorrhagic aspect were found in the eyelids, neck and retroauricular region, among others. She had presented intermittent papular lesions on the upper eyelids one year before, which worsened following local trauma. A local skin biopsy showed amorphous and eosinophilic substance in the dermis. Congo red staining confirmed the amyloid deposits. Abnormal exams: proteinuria (570mg/24h), Bence-Jones proteinuria and clonal plasma cells (70%) found in myelogram. Following the diagnosis of multiple myeloma based on amyloid skin lesions, the patient was referred to the Hematology service and died 5 months after the diagnosis.
- ItemAcesso aberto (Open Access)Transplante cardíaco em amiloidose primária(Sociedade Brasileira de Cirurgia Cardiovascular, 2009-09-01) Baumgratz, José Francisco; Vila, José Henrique Andrade [UNIFESP]; Guilhen, Claudia Jesus; Fonseca, Luciana Da [UNIFESP]; Leite, Weverton Ferreira; D'andretta, Carlos; Tângari Junior, Américo; Silva, José Pedro Da; Hospital Beneficência Portuguesa; Universidade Federal de São Paulo (UNIFESP); Hospital Beneficência Portuguesa UTI cardiológicaCardiac amyloidosis is a disease with a gloom life expectance after the beginning of the symptomatic phase, usually with sudden death as the final event. The aggression to other organs, although, can make heart transplantation a disputable form of treatment taking into consideration the shortage of donor organs. The aim is to report the evolution with a survival of seven years after heart transplantation and in very fair condition of a patient with amyloidosis. One year after the heart transplantation, there was indication of renal transplantation also from the aggression from the disease. This patient compares' favorable with three other patients also from our service, who died early after de diagnosis. Even considering the multi systemic nature of amyloidosis, we can accept that in peculiar patients justified the heart transplantation, taking in the consideration the very bad prognosis of the disease