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Fragile X syndrome: intergenerational allele instability and associated phenoty...

Fragile X syndrome (FXS) is the most common hereditary form of intellectual disability with an estimated frequency of 1/4000 males and 1/8000 females. This disease is caused by a (CGG)n expansion in the 5’UTR of the FMR1 gene, which as a result is methylated and gene silenced. Four classes of alleles can be found based on CGG repeat length: normal (5-44), intermediate (45-54), premutation (55-200) and full muta...

" Crime Sexual Contra Mulheres: Psicopatia e Responsabilidade nas Relações Soci...

Mestrado em Medicina Legal ; Master Degree in Forensic Medicine

Tricho-rhino-phalangeal syndrome type I as a “cis-ruption disorder” caused by a...

Tricho-rhino-phalangeal syndrome type I (TRPS I; OMIM 190350) and type II (OMIM 150230) are two forms of the rare autosomal-dominant TRP malformation syndrome localised in 8q23.3–24.1. TRPS I is generally caused by point mutations or deletions of the TRPS1 gene, whereas type II is characterised by the presence of multiple cartilage exostoses (EXT) and deletions comprising the TRPS1 and EXT1 genes. In the presen...

Chromosome 1p36 deletion syndrome: a report on 4 cases

Chromosome 1p36 deletion syndrome (MIM #607872) was first described in 1997 by Shapira et al. This condition is compatible with a monosomy of the 1p36 band in the distal region of the short arm of chromosome 1 and is the most common terminal deletion in humans, with an estimated prevalence of approximately 1 in 5,000 live births. This constitutional deletion is associated with mental retardation, developmental...

FMR1 premutations may be associated with a wider spectrum of phenotypes

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5’UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assess...

Regiões subteloméricas dos cromossomas: Os Finais (quase) Perfeitos

Mestrado em Epidemiologia ; Master Degree Course in Epidemiology

Diretrizes de apoio ao suporte avançado de vida em cardiologia : código azul : ...

Refractive error changes in children with intermittent exotropia under overminu...

PURPOSE: Intermittent exotropia may be decreased by stimulation of accommodative convergence. Once excessive accommodation has been related to myopia, our objective was to evaluate refractive errors changes in children under overcorrecting minus lens therapy. METHODS: A retrospective chart review of 21 children with intermittent exotropia was performed. All patients were treated with occlusion, and a 13-patient...

Prescrição de quelantes de fósforo e calcitriol para pacientes em hemodiálise c...

OBJETIVO: Descrever a frequência de prescrição de quelantes de fósforo (QF) e calcitriol em pacientes sob hemodiálise (HD) crônica em Salvador, Brasil, e avaliar se o tratamento está de acordo com recomendações do Kidney Disease Outcomes Quality Initiative (K/DOQI). MÉTODOS: Corte transversal de dados da linha de base do Estudo Prospectivo do Prognóstico de Pacientes Tratados Cronicamente por Hemodiálise (PROHE...

Orbital abscess secondary to acute dacryocystitis: case report

Acute dacryocystitis usually induces preseptal infection. In rare instances the infection that is confined to the lacrimal sac can extend to the orbital contents resulting in orbital cellulitis. We present a case of intraconal abscess secondary to acute dacryocystitis and review the literature of orbital cellulitis resulting from acute lacrimal sac infection.