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Perfil de risco cardiovascular de estudantes do ensino secundário

Relation between triglycerides associated polymorphisms and lipid profile in Fa...

Familial Combined Hyperlipidaemia (FCHL) is a genetic disorder characterized by highly atherogenic profile with prevalence of sdLDL particles, hyperlipidaemia (hypertriglyceridaemia and/or hypercholesterolaemia) and high apoB levels (>120 mg/dL), with different lipid profiles in members of the same family. Some polymorphisms in several genes (LPL -93T>G/D9N, APOAIV Q360H and V13M, APOAV -1131T>C and S19W, APOCI...

Update of the biochemical and molecular results of Portuguese patients with Fam...

FCHL is a complex disorder with a highly atherogenic profile. The aim of this study is the biochemical/molecular characterization of FCHL patients. Molecular study of LPL, APOAIV, APOAV, APOCIII and USF1 (s1,s2) was performed in 35 index patients by PCR amplification and sequencing. Total cholesterol (TC), HDL-c, sdLDL, triglycerides (TG), apoB and apoCIII were measured in automated analysers. sdLDL was also an...

Caracterização bioquímica e molecular de doentes com diagnóstico clínico de Dis...

A Dislipidemia Familiar Combinada (FCHL) é uma doença poligénica caracterizada por hiperlipidemia simples ou combinada, variabilidade intra-individual e intra-familiar do perfil lipídico, ApoB elevada (> 120 mg/dL) e risco elevado de doença cardiovascular (DCV). A sua causa é desconhecida mas alterações nos genes LPL, APOAIV, APOAV, APOCIII e USF1 parecem contribuir para o seu fenótipo. O objectivo deste estud...

Influence of LPL, APOAIV, APOAV, APOCIII and USF1 polymorphisms in a Portuguese...

Familial Combined Hyperlipidaemia (FCHL) is a genetic disorder characterized by highly atherogenic profile with presence of sdLDL, hyperlipidaemia (hypertriglyceridaemia and/or hypercholesterolaemia), different lipid profiles in members of the same family and high apoB levels. Some polymorphisms in several genes (LPL -93T>G/D9N, APOAIV Q360H and V13M, APOAV -1131T>C and S19W, APOCIII 3238C>G, USF1s1 and USF1s2)...

Fístula artério-venosa pulmonar: uma causa rara de cianose

RESUMO Apresenta-se o caso de um rapaz de 11 anos, referenciado por episódios recorrentes de dispneia de esforço e dor torácica associados a habitus marfanoide. Apresentava tórax com pectus excavatum exuberante e circulação venosa colateral superficial, cianose ungueal permanente, unhas em vidro de relógio e hipoxemia. A avaliação cardiológica revelou prolapso mitral e raiz da aorta não dilatada. A ressonância ...

Molecular diagnosis of familial hypercholesterolemia: an important tool for car...

Familial hypercholesterolemia (FH) is associated with an increased risk of premature coronary heart disease. Molecular identification of these patients can reduce the burden of mortality from cardiovascular disorders simply by the correct identification of the disease early in life, followed by counseling and appropriate lifestyle modifications, and therapeutic measures when required. Recent studies show that, ...

Long-term follow-up in Stuve–Wiedemann syndrome: a clinical report

Stuve-Wiedemann syndrome (SWS) is an autosomal recessively inherited disorder that is usually associated with high mortality in the neonatal period. Eleven cases have been published with prolonged survival, the oldest being 16 years. This phenotype is characterized by progressive skeletal anomalies including short stature, severe spinal deformities, bowing of the long bones, contractures and spontaneous fractur...

Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorect...

Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC gene, the MYH polyposis is an autosomal recessive disease. The identification of individuals affected by MYH poly...

Molecular diagnosis of Huntington disease in Portugal: implications for genetic...

Huntington disease (HD) is a neurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic t...