Browsing by Author "Dinis, I"
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- Autoimmune alternating hyper- and hypo-thyroidism: a rare condition in pediatricsPublication . 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. Many mechanisms may be involved in fluctuating thyroid function: hormonal supplementation, antithyroid drugs and levels of TSAbs and TBAbs. Frequent dose adjustments are needed in order to achieve euthyroidism. A definitive therapy may be necessary to avoid switches in thyroid function and frequent need of therapeutic changes. We describe an immune-mediated case of oscillating thyroid function in a 13-year-old adolescent. After a short period of levothyroxine treatment, the patient switched to a hyperthyroid state that was only controlled by adding an antithyroid drug. LEARNING POINTS: Autoimmune alternating hypo- and hyper-thyroidism is a highly uncommon condition in the pediatric age.It may be due to the simultaneous presence of both TSAbs and TBAbs, whose activity may be estimated in vitro through bioassays.The clinical state of these patients is determined by the balance between TSAbs and TBAbs and can change over time.The management of this condition is challenging, and three therapeutic options could be considered: I-131 ablation, thyroidectomy or pharmacological treatment (single or double therapy).Therapeutic decisions should be taken according to clinical manifestations and thyroid function tests, independent of the bioassays results.A definitive treatment might be considered due to the frequent switches in thyroid function and the need for close monitoring of pharmacological treatment. A definitive treatment might be considered due to the frequent switches in thyroid function and the need for close monitoring of pharmacological treatment.
- Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literaturePublication . Sentchordi-Montané, L; Aza-Carmona, M; Benito-Sanz, S; Barreda-Bonis, AC; Sánchez-Garre, C; Prieto-Matos, P; Ruiz-Ocaña, P; Lechuga-Sancho, A; Carcavilla-Urquí, A; Mulero-Collantes, I; Martos-Moreno, GA; Del Pozo, A; Vallespín, E; Offiah, A; Parrón-Pajares, M; Dinis, I; Sousa, SB; Ros-Pérez, P; González-Casado, I; Heath, KEOBJECTIVE: 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 stature, minor skeletal defects and mild facial dysmorphisms, some of whom have advanced bone age (BA), poor pubertal spurt and early growth cessation as well as precocious osteoarthritis. DESIGN AND METHODS: This study involves clinical and genetic characterization of 16 probands with heterozygous ACAN variants, 14 with short stature and mild skeletal defects (group 1) and two with SEDK (group 2). Subsequently, we reviewed the literature to determine the frequency of the different clinical characteristics in ACAN-positive individuals. RESULTS: A total of 16 ACAN variants were located throughout the gene, six pathogenic mutations and 10 variants of unknown significance (VUS). Interestingly, brachydactyly was observed in all probands. Probands from group 1 with a pathogenic mutation tended to be shorter, and 60% had an advanced BA compared to 0% in those with a VUS. A higher incidence of coxa valga was observed in individuals with a VUS (37% vs 0%). Nevertheless, other features were present at similar frequencies. CONCLUSIONS: ACAN should be considered as a candidate gene in patients with short stature and minor skeletal defects, particularly those with brachydactyly, and in patients with spondyloepiphyseal dysplasia. It is also important to note that advanced BA and osteoarticular complications are not obligatory conditions for aggrecanopathies/aggrecan-associated dysplasias.
- Hipertiroidismo neonatal transitórioPublication . 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’ disease during pregnancy. He had an uneventful early neonatal period but developed hyperthyroidism in the second week of life. He was treated for two days with propranolol to manage tachycardia and metimazol during 4 months, with favourable clinical and laboratory outcome. During pregnancy, it is essential to control thyroid function and TRAbs in women with Graves’ disease. Newborns should be screened for thyroid function at birth and must have a regular follow up as it allows the diagnosis of transient hyperthyroidism or hypothyroidism and its early treatment, avoiding short and long term complications. Based on this case and literature review, the authors present a proposal of protocol in infants born to mothers with Graves’ disease.
- Metabolic factors in obesityPublication . 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 children. 3. To evaluate the relation between leptin levels and insulin resistance index. METHODS: Cross-sectional study, using a sample of 70 obese children and a control group of 53 non-obese children. Obesity was defined as BMI standard deviation > 2 for age and sex. In the obese group we assessed sex, age, BMI SDS and height SDS for age and sex, and serum levels of glucose, insulin and leptin. In the control group were obtained BMI SDS and height SDS for age and sex and leptin levels. Data were analysed using SPSS 12. RESULTS: The mean age of obese and non-obese children was 10.3 +/- 2.9 versus 10.9 +/- 3.5 years. In the obese group, 32 (45.7%) were boys versus 18 (31.0%) in the non-obese group. BMI SDS in the obese group was 3.12 +/- 0.60 versus 0.20 +/- 0.99 in the non-obese group (p < 0.001). Leptin levels showed a positive correlation with BMI SDS (r = 0.69; p < 0.001) and height SDS (r = 0.31; p < 0.001). When comparing leptin levels between obese and non-obese groups, we found a significant difference in boys (50.7 +/- 27.3 versus 7.0 +/- 6.8 ng/ml; p < 0.001) and in girls (57.6 +/- 25.5 versus 16.5 +/- 10.3 ng/ml; p < 0.001). In the nonobese group, leptin levels were lower in boys. This difference was not seen in the obese group. Leptin showed a positive correlation with insulin resistance index in boys (r = 0.45, p = 0.05), but not in girls. CONCLUSIONS: This study has confirmed a positive correlation between leptin levels and BMI SDS. In obese children elevated leptin is associated with central resistance to its action. The positive correlation of leptin with insulin resistance index may suggest a major role of leptin in insulin resistance.
- MÓDULO 2 - 2º Curso de Formação para Internos 2013 - 2014:Pediatria AmbulatóriaPublication . Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Oliva, M; Dinis, I; Correia, AJ; Soares, R; Fonseca, P; Ramos, L; Mirante, A
- A rare cause of neonatal persistent jaundicePublication . Oliveira, GN; Dinis, I; Noruegas, MJ; Mirante, A