14 documents found, page 1 of 2
Relevance of Multigene Panels in the Molecular diagnosis of patients with disor...
Pereira-Caetano, Iris; Mendonça, Joana; Mirante, Alice; Cardoso, Rita; Rodrigues, Márcia; Oliveira, João Paulo; Grangeia, Ana; Barbosa, DavidIntroduction: Next generation sequencing (NGS) is increasingly used in the molecular diagnosis of rare diseases, such as disorders of sexual development (DSD), allowing the analysis of a greater number of genes in a single assay, providing faster results with reduced costs. DSD patients may present high phenotypic overlap (genital ambiguity, sex reversal, delayed/absent puberty, infertility) posing challenges t...
COVID-19 Pandemic Impact on Metabolic Control of Type 1 Diabetes in Children
Santos, Joana; Botelho, Teresa; Caetano, Joana Serra; Cardoso, Rita; Dinis, Isabel; Mirante, AliceIntroduction: Coronavirus disease 2019 pandemic has led to the adoption of extreme public health measures worldwide, and many governments imposed lockdown policies during the pandemic. In Portugal, the first emergency state began in March 2020 which led to the closure of schools and gyms, depriving children of all physical activities. This study aimed to evaluate the lockdown impact on metabolic control of chil...
Achondroplasia in the First Years of Life – Importance of Early Referral to Pne...
Penteado, Raquel; Bento Soares, Gustavo; Sousa, Sérgio; Mirante, Alice; Madureira, NúriaIntroduction - Achondroplasia is the most common bone dysplasia and is associated with extreme, disproportionate shortness of stature. Early care is essential to identify risks and prevent serious sequelae. The American Academy of Pediatrics recommends conducting a polysomnography soon after the diagnosis of achondroplasia. Materials and Methods - A retrospective study of children with achondroplasia referred t...
Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and H...
Alvelos, Maria I.; Gonçalves, Catarina I.; Coutinho, Eduarda; Almeida, Joana T.; Bastos, Margarida; Sampaio, Maria L.; Melo, Miguel; Martins, SofiaMaturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of the GCK (MODY 2), HNF1A (MODY 3), and HNF4A (MODY 1) genes. We undertook the first multicenter genetic study of MODY in the Portuguese population. The GCK, HNF1A, and...
Neonates Born to Mothers with Graves’ Disease: 15 Year Experience of a Pediatri...
Luz, Inês Romão; Martins, João Rio; Jerónimo, Mónica; Caetano, Joana Serra; Cardoso, Rita; Dinis, Isabel; Mirante, AliceIntroduction: Graves disease is characterized by the existence of autoantibodies directed to the thyrotropin receptor, which can have a stimulatory/inhibitory action, in women with the condition, their fetus or neonate. Our aim was to review the case series of these neonates in order to establish neonatal thyroid function predictors.Material and Methods: Retrospective cohort study of the database of the Departm...
Growth recovery in acquired hypothyroidism presenting with height velocity decr...
Miranda, Patrícia; Ferraz, Ana; Dias, Ana Lopes; Serra-Caetano, Joana; Cardoso, Rita; Dinis, Isabel; Mirante, AliceIntroduction: Hypothyroidism is a frequent endocrinopathy in pediatrics. In severe cases, the most prevalent clinical manifestation is the decline in height velocity. The objective of this study was to evaluate height recovery after treatment, in children with primary acquired hypothyroidism associated with decline in linear growth. Methods: Analytical cross-sectional retrospective study. Sample was constituted...
Revisão dos Casos de MEN2A numa População Pediátrica
Dias, Inês; Ferreira, Lígia M.; Serra Cetanoa, Joana; Piedade, Cláudia; Cardoso, Rita; Dinis, Isabel; Ramos, Manuel; Mirante, AliceIntrodução: As neoplasias endócrinas múltiplas do tipo 2A consistem na tríade carcinoma medular da tiroide, feocromocitoma e hiperplasia das paratiroides. Os testes genéticos constituem uma ferramenta importante na deteção e seguimento destes doentes. Este estudo tem por objetivo descrever a experiência dos autores no seguimento de crianças diagnosticadas com neoplasias endócrinas múltiplas do tipo 2A. Métodos:...
Congenital adrenal hyperplasia in paediatric age: molecular analysis of the CYP...
Gomes, Susana; Silva, Júlia; Pereira-Caetano, Iris; Lopes, Lurdes; Limbert, Catarina; Amaral, Daniela; Pina, Rosa; Kay, Teresa; Sampaio, LurdesIntroduction: Congenital adrenal hyperplasia(CAH) is due to 21-hidroxilase deficiency(21-OHD) in about 95% of the cases. 21-OH is encoded by CYP21A2 gene, and most frequent mutations occurring in CYP21A2 are due to gene conversions originated from its pseudogene(CYP21A1P). The clinical severity of CAH is associated with the impairment of 21-OH activity, which is directly related with the molecular defect. CAH i...
Espectro de alterações moleculares detetadas no gene CYP21A2 associadas a defic...
Gomes, Susana; Pereira-Caetano, Iris; Lopes, Maria Lurdes; Limbert, Catarina; Amaral, Daniela; Pina, Rosa; Antunes, Diana; Carvalho, Inês; Kay, TeresaA maioria dos doentes com hiperplasia suprarrenal congénita (HSC) apresenta alterações moleculares no gene CYP21A2, o qual codifica a enzima 21-hidroxilase (21-OH). Os doentes com a forma clássica de deficiência em 21-OH (21-OHD) apresentam a síntese de cortisol diminuída no córtex adrenal e, os casos mais graves, também apresentam deficiência de aldosterona. As mulheres com 21-OHD grave apresentam excesso de a...
CYP21A2 gene mutations, its nature and frequency in a paediatric Portuguese coh...
Rosmaninho-Salgado, Joana; Caetano, Joana Serra; Gomes, Susana; Pereira-Caetano, Iris; Cardoso, Rita; Dinis, Isabel; Ramos, Lina; Ramos, FabianaIntroduction: The most common cause of congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency (21-OHD) caused by alterations in CYP21A2 gene. The clinical phenotypes of this autosomal recessive disease are classified as classic (saltwasting and simple virilizing) and non-classic forms of CAH. The severity of the disease is directly related with the impairment of the 21-OH enzymatic activity. Genetic ...