Ana Rego - Academia.edu (original) (raw)
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The Marine Biological Association of the UK
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Papers by Ana Rego
Synopsis Chthamalus malayensis is a common intertidal acorn barnacle widely distributed in the In... more Synopsis Chthamalus malayensis is a common intertidal acorn barnacle widely distributed in the Indo-West Pacific.
Journal of Sea Research, 2003
Cerebrovascular Diseases, 2009
Cardioembolic stroke accounts for one third of all ischemic strokes, and atrial fibrillation (AF)... more Cardioembolic stroke accounts for one third of all ischemic strokes, and atrial fibrillation (AF) is the cardiac source of emboli in 50% of them. However, the absolute risk of stroke associated with AF has enormous variability, and several clinical risk stratification schemes have been proposed. One of the most validated and used in clinical practice is the CHADS2 index, characterized by its simplicity and rapid application. Current recommendations about antithrombotic therapy in AF patients are based on assessment of annual risk of stroke; thus, antiaggregation is indicated in patients with a low risk, and anticoagulation is prescribed when annual risk is greater than 2.5%. Relevant studies comparing rate and rhythm control do not defend achievement and maintenance of sinus rhythm as a routine management of AF patients and demonstrate that rate control is comparable or even better than rhythm control in terms of survival and quality of life. Optimal control of blood pressure is a relevant factor in preventing cardioembolic stroke in AF patients, because hypertension multiplies the risk of stroke by 12. Antihypertensive drugs such as angiotensin-converting enzyme inhibitors and angiotensin II receptor blockers proved to reduce AF recurrences, especially in the context of left ventricular dysfunction and ventricular hypertrophy.
Molecular Genetics and Metabolism, 2006
More than 90% of congenital adrenal hyperplasia (CAH) cases are caused by 21-hydroxylase deWcienc... more More than 90% of congenital adrenal hyperplasia (CAH) cases are caused by 21-hydroxylase deWciency. In this study, the CYP21 gene was genotyped in 56 Portuguese unrelated patients with clinical symptoms of 21-hydroxylase deWciency, in a total of 112 independent alleles. CYP21A2 mutations were identiWed in 99.1% of the alleles. The most common point mutation was 1688G > T (25.9%). A previously unreported partial gene conversion, extending from exon 1 to 7, was found in 16.1% of the alleles, in most cases associated to the mutation 1688G > T in the other chromosome, and in patients with nonclassical CAH. Other three distinct partial gene conversions were also identiWed, with lower frequencies: one extends from exon 1 to 3 and the others from exons 3 to 7 and 3 to 8. Two novel mutations were identiWed in two salt-wasting patients: a putative splicing mutation, IVS2 + 5G > A, and the transition 2557C > T, that gives rise to the nonsense mutation R445X. Seven point mutations and a partial gene conversion were responsible for 88 of the studied disease causing alleles, and the overall concordance between genotype and phenotype was 92.9%. With this study the molecular basis of CAH was characterized, for the Wrst time, in Portuguese patients, providing useful results for clinicians in terms of prediction of disease severity, genetic and prenatal counseling.
Synopsis Chthamalus malayensis is a common intertidal acorn barnacle widely distributed in the In... more Synopsis Chthamalus malayensis is a common intertidal acorn barnacle widely distributed in the Indo-West Pacific.
Journal of Sea Research, 2003
Cerebrovascular Diseases, 2009
Cardioembolic stroke accounts for one third of all ischemic strokes, and atrial fibrillation (AF)... more Cardioembolic stroke accounts for one third of all ischemic strokes, and atrial fibrillation (AF) is the cardiac source of emboli in 50% of them. However, the absolute risk of stroke associated with AF has enormous variability, and several clinical risk stratification schemes have been proposed. One of the most validated and used in clinical practice is the CHADS2 index, characterized by its simplicity and rapid application. Current recommendations about antithrombotic therapy in AF patients are based on assessment of annual risk of stroke; thus, antiaggregation is indicated in patients with a low risk, and anticoagulation is prescribed when annual risk is greater than 2.5%. Relevant studies comparing rate and rhythm control do not defend achievement and maintenance of sinus rhythm as a routine management of AF patients and demonstrate that rate control is comparable or even better than rhythm control in terms of survival and quality of life. Optimal control of blood pressure is a relevant factor in preventing cardioembolic stroke in AF patients, because hypertension multiplies the risk of stroke by 12. Antihypertensive drugs such as angiotensin-converting enzyme inhibitors and angiotensin II receptor blockers proved to reduce AF recurrences, especially in the context of left ventricular dysfunction and ventricular hypertrophy.
Molecular Genetics and Metabolism, 2006
More than 90% of congenital adrenal hyperplasia (CAH) cases are caused by 21-hydroxylase deWcienc... more More than 90% of congenital adrenal hyperplasia (CAH) cases are caused by 21-hydroxylase deWciency. In this study, the CYP21 gene was genotyped in 56 Portuguese unrelated patients with clinical symptoms of 21-hydroxylase deWciency, in a total of 112 independent alleles. CYP21A2 mutations were identiWed in 99.1% of the alleles. The most common point mutation was 1688G > T (25.9%). A previously unreported partial gene conversion, extending from exon 1 to 7, was found in 16.1% of the alleles, in most cases associated to the mutation 1688G > T in the other chromosome, and in patients with nonclassical CAH. Other three distinct partial gene conversions were also identiWed, with lower frequencies: one extends from exon 1 to 3 and the others from exons 3 to 7 and 3 to 8. Two novel mutations were identiWed in two salt-wasting patients: a putative splicing mutation, IVS2 + 5G > A, and the transition 2557C > T, that gives rise to the nonsense mutation R445X. Seven point mutations and a partial gene conversion were responsible for 88 of the studied disease causing alleles, and the overall concordance between genotype and phenotype was 92.9%. With this study the molecular basis of CAH was characterized, for the Wrst time, in Portuguese patients, providing useful results for clinicians in terms of prediction of disease severity, genetic and prenatal counseling.