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Estimulação Cerebral Profunda no Controlo da Dor

A estimulação cerebral profunda consiste na aplicação de estímulos elétricos em alvos neuronais subcorticais (através de elétrodos de estimulação parenquimatosos intracranianos) e tem tido uma aplicação crescente no controlo da dor. Constituem objetivos deste trabalho, uma revisão sobre os fundamentos da técnica, suas indicações e seleção de doentes e uma análise sobre a abordagem anestésica perioperatória. Pro...

Moyamoya syndrome in children and anesthetic management

The Moyamoya syndrome is a cerebrovascular condition that predisposes affected patients to stroke in association with progressive stenosis of the intracranial internal carotid arteries and their proximal branches. We report the clinical case of a black child, male, 10 years old, with Moyamoya syndrome diagnosed by angiography, who presented with spastic hemiparesia and central facial paralysia. The child was sc...

Sensing Bluetooth Mobility Data: Potentials and Applications

Information related to mobility dynamics constitutes an important factor to be considered in traffic management to improve the efficiency of existing systems. We present a proof-of-concept deployment of sensors using the Bluetooth technology to detect traffic flow conditions. Besides traditional method consisting of a network of stationary sensors, we present a novel approach that uses sensors deployed in movin...

Prenatal diagnosis of mosaic tetrasomy 18p

To report the case of a prenatally detected de novo mosaic tetrasomy 18p where a combination of different methodologies was used,including conventional cytogenetics and molecular genetics techniques. METHOD: Molecular rapid aneuploidy diagnosis, by quantitative fluorescent polymerase chain reaction (QF-PCR), conventional cytogenetics and fluorescence in situ hybridization (FISH). RESULTS:Amniocentesis was perfo...

A complex chromosomal rearrangement in a child with developmental delay, fracti...

Smith-Magenis Syndrome (SMS) is a micro-deletion syndrome, and encompasses a picture of dysmorphology, mental defect, and fractious behavior. Evaluation of complex chromosome rearrangements (CCRs) and their potential phenotypic consequences is a common challenge in the genetics clinic and knowledge about the genotype/phenotype relationships are limited. We report the case of a 14-year-old boy who was referred...

9q34.3 microdeletion by MLPA in a fetus with cardiac defects

Abstrat publicado em: Chromosome Research. 2003;21(Suppl 1):S1–S168. doi:10.1007/s10577-013-9364-x

Nova abordagem Metodológica no Estudo do CATCH22

Prenatal Investigation of a Familial Partial Monosomy 10q

Objective: To present the clinical, cytogenetic and molecular findings of a prenatal study of a familial partial monosomy 10q. Distal 10q deletions are rare and the majority are terminal deletions involving bands 10q25 and 10q26. Patients typically present with facial dysmorphism, postnatal growth retardation, developmental and mental retardation, genitourinary anomalies and digital anomalies. Methods: Conventi...

A retrospective study of Down syndrome in prenatal diagnosis. Did chorionic vil...

Introduction Down syndrome (DS) is the most common single genetic cause of human moderate mental retardation, with an estimated prevalence of 9.2 cases per 10,000 live births. We aimed at analyzing changes in prenatal diagnosis (PND) over time, namely the referral reasons for chromosome analyses and the introduction of chorionic villus sampling (CVS), and its influence on the results obtained in DS cases. Meth...

O uso de materiais manipuláveis estruturados na educação pré-escolar e no 1º ci...

Mestrado em Educação Pré-Escolar e Ensino do 1º Ciclo do Ensino Básico (Relatório de Estágio). ; O presente relatório incide sobre os estágios curriculares, decorridos de 1 de Fevereiro a 17 de Maio de 2010, na Educação Pré-Escolar, no Jardim-de-Infância Santa Clara e de 15 de Setembro a 12 de Janeiro de 2011, no Ensino do 1º Ciclo do Ensino Básico, na Escola Básica Integrada Canto da Maia. Estes estágios acon...