11 documents found, page 1 of 2

Genetic characterization and genotype-phenotype associations in a large cohort ...

Background: We present an ancillary study of the Portuguese Registry of Hypertrophic Cardiomyopathy (PRo-HCM). This is one of the largest HCM genetic studies based on a registry. Methods and results: Collected genetic variants were re-analysed for pathogenicity. Demographic, clinical, imaging and outcome data were analysed for associations with genotype, focusing on comparisons between patients with (G+) vs wit...

The Portuguese Registry of Hypertrophic Cardiomyopathy : overall results

Introduction: We report the results of the Portuguese Registry of Hypertrophic Cardiomyopathy, an initiative that reflects the current spectrum of cardiology centers throughout the territory of Portugal. Methods: A direct invitation to participate was sent to cardiology departments. Baseline and outcome data were collected. Results: A total of 29 centers participated and 1042 patients were recruited. Four cente...

Awareness of Fabry disease in cardiology : a gap to be filled

Introduction: In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to assess cardiologists’ awareness of FD based on data from the Portuguese Registry of Hypertrophic Cardiomyopathy. Methods: A total of 811 index patie...

ARRHYTHMIC RISK AND GENETIC VARIATIONS IN DILATED CARDIOMYOPATHY PATIENTS

Do induced twin pregnancies influence the obstetric and neonatal results of mul...

PURPOSE: To compare obstetric outcomes of induced preterm twin births (under 32 weeks gestation) with those spontaneously conceived. METHODS: Prospective study of twin pregnancies (25 induced and 157 spontaneously conceived) developed over a period of 16 years in a tertiary obstetric center. Demographic factors, obstetric complications, gestational age at delivery, mode of delivery, birth weight and immediate n...

Medico-legal litigation in Obstetrics: a characterization analysis of a decade ...

PURPOSE: It was to analyse the most critical areas in Obstetrics and to suggest measures to reduce or avoid the situations most often involved in these disputes. METHODS: Obstetrics cases submitted to the Medico-legal Council since the creation of the National Institute of Legal Medicine and Forensic Sciences in 2001 until 2011 were evaluated. A comprehensive characterization, determination of absolute/relative...

Parto pré-termo com e sem rotura prematura de membranas: Características matern...

OBJETIVO: Avaliação das caraterísticas maternas, obstétricas e neonatais nos partos pré-termo (PPT) associados ou não à rotura prematura de membranas pré-termo. MÉTODOS: Estudo retrospetivo de gestações de feto único, com um parto pré-termo, entre 2003 e 2012. Critérios de inclusão: a ocorrência de parto associado ou não à rotura prematura de membranas pré-termo. Critérios de exclusão: partos motivados por como...

Triplet pregnancies: perinatal outcome evolution

PURPOSE: To evaluate the obstetric and perinatal outcomes evolution of triplet pregnancies. METHODS: A prospective observational study was conducted in triplet pregnancies delivered over 16 years in a tertiary obstetric center with differentiated perinatal support. Evaluation of demographic factors, obstetric complications, gestational age at delivery, mode of delivery, birth weight and immediate newborn outcom...

Left ventricular systolic dysfunction detected by speckle tracking in hypertens...

Introduction: The spectrum of hypertensive heart disease is wide, and can include left ventricular dysfunction. The development of echocardiographic parameters to improve patient stratification and to identify early adverse changes could be clinically useful. Aim: To identify subclinical left ventricular dysfunction in hypertensive subjects with preserved ejection fraction (>55%), identified by global parameter...

Characterization of lipid profile in primary health care users in Portugal

Aim: To characterize the distribution of total cholesterol (TC), LDL cholesterol (LDL-C), HDL cholesterol (HDL-C) and triglycerides in primary health care users. Methods: We performed a cross-sectional study in a primary care setting, involving 719 general practitioners based on stratified distribution proportional to the population density of each region of Portugal. The first two adult patients scheduled for ...