Percorrer por autor "Serrasqueiro, Bernardo"
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- Identification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individualsPublication . Ginete, Catarina; Serrasqueiro, Bernardo; Silva-Nunes, José; Veiga, Luisa; Brito, MiguelObesity is a major public health problem, which has a strong genetic component that interplays with environmental factors. Several genes are known to be implicated in the regulation of body weight. The identification of alleles that can be associated with obesity is a key element to control this pandemic. On the basis of a Portuguese population, 65 obesity-related genes are sequenced using Next-Generation Sequencing (NGS) in 72 individuals with obesity, in order to identify variants associated with monogenic obesity and potential risk factors. A total of 429 variants are identified, 129 of which had already been associated with the phenotype. Comparing our results with the European and Global frequencies, from the 1000 Genomes project, 23 potential risk variants are identified. Six new variants are discovered in heterozygous carriers: four missense (genes ALMS1-NM_015120.4:c.5552C>T; SORCS1-NM_001013031.2:c.1072A>G and NM_001013031.2: c.2491A>C; TMEM67-NM_153704.5:c.158A>G) and two synonymous (genes BBS1-NM_024649.4:c.1437C>T; TMEM67-NM_153704.5:c.2583T>C). Functional studies should be performed to validate these new findings and evaluate their penetrance and pathogenicity. Regardless of no cases of monogenic obesity being identified, this kind of investigational study is important when we are still trying to understand the etiology and pathophysiology of obesity. This will allow the identification of rare variants associated with obesity and the study of their prevalence in specific populational groups.
- Monogenic obesity in Portugal: the use of next generation sequencing (preliminary results)Publication . Brito, Miguel; Serrasqueiro, Bernardo; Veiga, Luísa; Silva-Nunes, JoséObesity arises from a complex interaction between genetic variance, environment, and lifestyle changes, and has become a major public health problem as a result of its increasing prevalence in most developed countries. Several genes have been implicated in obesity, namely ADRB1, ADRB2, ADRB3, BDNF, FTO; IGF2, IGF2R, LEP, LEPR, LRP2, MC1R; MC2R; MC3R; MC4R; NEGR1, NPY, NPY2R; NPY1R; NTRK2, PCSK1, POMC; SH2B1; SIM1; SLC6A14; SORCS1; UCP1; UCP2; UCP3. All these genes have mutations associated with monogenic obesity. The aim of the study - We aimed to investigate the presence of mutations in the mentioned genes in a Portuguese population with obesity using an enrichment method and all exome sequencing.
- O perfil dos pacientes observados no gabinete de rastreio da consulta de oftalmologia de um hospital centralPublication . Serrasqueiro, Bernardo; Poças, Ilda; Castro, Paula MendesNo gabinete de rastreio de uma consulta de oftalmologia, realiza-se o primeiro contacto com o paciente e efectuam-se exames com o propósito de recolher indicadores e dados para a abordagem médica e facilitadores da consulta. Objectivos: Caracterizar os pacientes observados no gabinete de rastreio da consulta de oftalmologia, entre 30 de Setembro e 3 de Outubro de 2013, avaliando os seguintes parâmetros: pressão intraocular (PIO),ametropias por refracção automática.
- The use of next-generation sequencing in the study of monogenic obesityPublication . Serrasqueiro, Bernardo; Veiga, Luísa; Silva-Nunes, José; Brito, MiguelTechnological innovation opens the possibility for scientific discovery, especially in biology and medicine, which allows the development of different perspectives that can bring a new understanding regarding different pathologies. Technologies such as the Next-Generation Sequencing (NGS) allow us not only to decode the human genome but also to describe and identify gene polymorphisms that lead to the development of diseases, as it happens with monogenic obesity. The aim of the study: Identify new mutations associated with monogenic obesity.
- A utilização da ‘Next-Generation Sequencing’ no estudo da obesidade monogénicaPublication . Serrasqueiro, Bernardo; Veiga, Luísa; Silva-Nunes, José; Brito, MiguelObjetivo do estudo: Prevalência de mutações associadas à obesidade monogénica numa amostra de 36 pacientes obesos portugueses, utilizando tecnologia de sequenciação NGS.