Encontrados 234 documentos, a visualizar página 1 de 24

Famílias Multidesafiadas: a Perspectiva dos Cuidados Hospitalares

Atypical Phenotype in Two Patients with LAMA2 Mutations

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...

Ryanodine myopathies without central cores-clinical, histopathologic, and genet...

BACKGROUND: 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...

Atypical phenotype in two patients with LAMA2 mutations

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...

Correlation between the acoustic noise field measured in a Posidonia oceanica b...

During the period of one week, from May 8 to 15, 2013, acoustic data was gathered at three locations over a Posidonia oceanica bed in the Bay of Revellata, Corsica. Preliminary analysis of the acoustic data shows that the environmental noise field in the band 2-7kHz was dominant during the period. The noise in this band is generally associated with wind and surface agitation. However, the noise power was not si...

Remote Optical Monitor of Blood Oxygenation

Pulse oximetry is a widely used technique in biomedical analyses. It enables monitoring the percentage of saturated hemoglobin and heart pulse in a noninvasive way.The mandatory permanence of patients in medical facilitiesdue to continuous measurements of blood oxygen saturationand cardiac pulse can be avoided by taking advantage of nowadays telecommunications technologies. This paperdescribes a pulse oximeter ...

Estudo da fonte do sismo do Haiti de 12 de janeiro de 2010 a partir de combinaç...

Neste trabalho é apresentada uma metodologia baseada no cruzamento de técnicas e dados sísmicos (ondas de volume com registo telessísmico por estações de banda larga) e geodésicos (SAR - Radar de Abertura Sintética) com o intuito de estudar o complexo processo de ruptura do sismo do Haiti de 12 de Janeiro de 2010. Esta metodologia baseia-se: 1) na análise da diretividade para estimar a direção e a velocidade mé...

Seismic rupture process of the 2010 Haiti Earthquake (Mw7.0) inferred from seis...

On January 12th 2010 at 21:53, the Port-au-Prince – Haiti region was struck by an Mw7 earthquake, the second most deadly of the history. The last seismic significant events in the region occurred in November 1751 and June 1770 [1]. Geodetic and geological studies, previous to the 2010 earthquake [2] have warned to the potential of the destructive seismic events in that region and this event has confirmed those ...

Development and validation of a multiplex-PCR assay for X-linked intellectual d...

BACKGROUND: X-linked intellectual disability is a common cause of inherited cognitive deficit affecting mostly males. There are several genetic causes implicated in this condition, which has hampered the establishment of an accurate diagnosis. We developed a multiplex-PCR assay for the mutational hotspot regions of the FMR1, AFF2 and ARX genes. METHODS: The multiplex-PCR was validated in a cohort of 100 males...

Investigação das causas genéticas de doenças primárias do músculo: a experiênci...