7 documents found, page 1 of 1
Heterozygous aggrecan variants are associated with short stature and brachydact...
Sentchordi-Montané, L; Aza-Carmona, M; Benito-Sanz, S; Barreda-Bonis, AC; Sánchez-Garre, C; Prieto-Matos, P; Ruiz-Ocaña, P; Lechuga-Sancho, AOBJECTIVE: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dysplasias, spondyloepiphyseal dysplasia, Kimberley type (SEDK), and osteochondritis dissecans, as well as in a severe recessive dysplasia, spondyloepimetaphyseal dysplasia, aggrecan type. Next-generation sequencing (NGS) has aided the identification of heterozygous ACAN mutations in individuals with short s...
A rare cause of neonatal persistent jaundice
Oliveira, GN; Dinis, I; Noruegas, MJ; Mirante, A
The effect of sequential information on consumers' willingness to pay for crede...
Botelho, Anabela; Dinis, I; Lourenço-Gomes, L; Moreira, Jorge; Pinto, Lígia; Simões, OThe use of experimental methods to determine consumers' willingness to pay for "quality" food has been gaining importance in scientific research. In most of the empirical literature on this issue the experimental design starts with blind tasting, after which information is introduced. It is assumed that this approach allows consumers to elicit the real value that they attach to each of the features added throug...
Autoimmune alternating hyper- and hypo-thyroidism: a rare condition in pediatrics
Martins, LC; Coutinho, AR; Jerónimo, M; Caetano, JS; Cardoso, R; Dinis, I; Mirante, AAlternating between hyper- and hypo-thyroidism may be explained by the simultaneous presence of both types of TSH receptor autoantibodies (TRAbs) - thyroid stimulating autoantibodies (TSAbs) and TSH blocking autoantibodies (TBAbs). It is a very rare condition, particulary in the pediatric age. The clinical state of these patients is determined by the balance between TSAbs and TBAbs and can change over time. Man...
MÓDULO 2 - 2º Curso de Formação para Internos 2013 - 2014:Pediatria Ambulatória
Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Oliva, M; Dinis, I; Correia, AJ; Soares, R; Fonseca, P; Ramos, L; Mirante, A
Hipertiroidismo neonatal transitório
Jerónimo, M; Moinho, R; Nunes-Vicente, I; Oliveira, A; Dias, A; Mimoso, G; Dinis, I; Mirante, A; Faria, DGraves’ disease is the main cause of hyperthyroidism in women of childbearing age. It occurs by the presence of serum immunoglobulins which stimulate the thyrotropin receptor (TRAbs) and may cross the placenta. It has serious consequences when uncontrolled, leading to fetal and/or neonatal hyperthyroidism or hypothyroidism. The authors describe the case of a newborn from a mother with poorly controlled Graves’ ...
Metabolic factors in obesity
Brito, N; Fonseca, M; Dinis, I; Mirante, AObesity has a rising prevalence in children and adolescents, affecting 30% of the paediatric population in Portugal. Leptin is an important hormone involved in the pathogenesis of obesity and has been under investigation as a risk marker for future complications. AIMS: 1. To evaluate the relation between serum leptin levels and body mass index (BMI) and height. 2. To compare leptin levels in obese and non-obese...