56 documents found, page 1 of 6
A Common Variant in the CDK8 Gene Is Associated with Sporadic Pituitary Adenoma...
Gaspar, L; Gonçalves, C; Fonseca, F; Carvalho, D; Cortez, L; Palha, A; Barros, I; Nobre, E; Duarte, J; Amaral, C; Bugalho, MJ; Marques, O; Pereira, BThe majority of pituitary adenomas occur in a sporadic context, and in the absence of known genetic predisposition. Three common variants at the NEBL (rs2359536), PCDH15 (rs10763170) and CDK8 (rs17083838) loci were previously associated with sporadic pituitary adenomas in the Han Chinese population, but these findings have not yet been replicated in any other population. The aim of this case-control study was t...
Drowning and aquatic injuries dictionary
Szpilman, D; Palacios Aguilar, J; Barcala-Furelos, R; Baker, S; Dunne, C; Peden, AE; Brander, R; Claesson, A; Avramidis, S; Leavy, J; Luckhaus, JLBackground: Drowning is a significant public health issue with more than 320,000 deaths globally every year. These numbers are greatly underestimated, however, due to factors such as inadequate data collection, inconsistent categorization and failure to report in certain regions and cultures.The objective of this study was to develop a standardised drowning dictionary using a consensus-based approach. Through c...
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism
Gonçalves, CI; Patriarca, FM; Aragüés, JM; Carvalho, D; Fonseca, F; Martins, S; Marques, O; Pereira, BD; Martinez-de-Oliveira, J; Lemos, MCCongenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital hypoplasia and Ear abnormal...
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism
Gonçalves, CI; Patriarca, FM; Aragüés, JM; Carvalho, D; Fonseca, F; Martins, S; Marques, O; Pereira, BD; Martinez-de-Oliveira, J; Lemos, MCCongenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital hypoplasia and Ear abnormal...
Iron Deficiency and Obesity - Are we Diagnosing with Appropriate Indicators?
Monteiro, AM; Fernandes, V; Matta-Coelho, C; Paredes, Sílvia; Pereira, ML; Marques, O; Alves, MINTRODUCTION: We aim to define the iron deficiency prevalence and eventual differences between obese patients with and without metabolic syndrome. MATERIAL AND METHODS: Analysis of patients evaluated at multidisciplinary consultation of obesity in our institution between 2013 and 2015 (n = 260). Iron deficiency: ferritin levels < 15 ng/mL. EXCLUSION CRITERIA: prior bariatric surgery; lack of ferritin or hemoglo...
Therapeutic challenge of a paediatric case of Graves' disease with severe ophth...
Ferreira, C; Meireles, C; Marques, O; Antunes, A
20-year retrospective study of clinically non-functioning pituitary adenomas - ...
Matta-Coelho, C; Ramos, R; Almeida, R; Marques, O
Surgery versus expectant observation in clinically non-functioning pituitary ad...
Matta-Coelho, C; Ramos, R; Almeida, R; Marques, O
Two Separate Effects Contribute to Regulatory T Cell Defect in Systemic Lupus E...
Costa, N; Marques, O; Godinho, SI; Carvalho, C; Leal, B; Figueiredo, AM; Vasconcelos, C; Marinho, A; Moraes-Fontes, MF; Gomes da Costa, A; Ponte, CForkhead box P3 (FoxP3)+ regulatory T cells (Tregs ) are functionally deficient in systemic lupus erythematosus (SLE), characterized by reduced surface CD25 [the interleukin (IL)-2 receptor alpha chain]. Low-dose IL-2 therapy is a promising current approach to correct this defect. To elucidate the origins of the SLE Treg phenotype, we studied its role through developmentally defined regulatory T cell (Treg ) su...
Diabetes e cirurgia de ambulatório – protocolo de atuação no período perioperat...
Monteiro, AM; Alves, M; Marques, OA diabetes mellitus é uma doença crónica de elevada prevalência em todo o mundo. Dado que os procedimentos cirúrgicos em regime de ambulatório têm aumentado significativamente, surge a necessidade de elaboração de um protocolo para o controlo glicémico destes doentes neste contexto. A avaliação cuidadosa pré‐operatória é fundamental e permite antecipar alterações no controlo glicémico e evitar complicações peri...