3 documents found, page 1 of 1
Food Allergy in Preschoolers: Parents’ Perception and Self-Reported Prevalence
Da Silva Cardoso, Juliana; Ashworth, Joanna; Pinto, Diana; Teixeira, Fernanda; Araújo, Ana RitaBackground: Food allergy is a potentially fatal condition (in the case of anaphylaxis, for example) and is characterized by an increasing prevalence. The main purpose of this study is to identify preschool children with parent-reported food allergies and characterize this population and type of allergy. Methods: This is a cross-sectional study, based on questionnaires to parents/legal guardians. All children wh...
Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encep...
Da Silva Cardoso, Juliana; Gomes, Rita; Abreu, Maria; Parente Freixo, João; Falcão Reis, Cáudia; Garrido, CristinaThe diagnosis of early infantile epileptic encephalopathy (EIEE) remains challenging, and next-generation sequencing (NGS) techniques have played a key role in identifying genetic causes. Recent studies have shown an association between mutations in the CYFIP2 gene and EIEE, with 20 deleterious variants reported so far and a de novo mutational hotspot at codon 87. A male infant presented with seizures since the...
Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn
Losa, Ana; Da Silva Cardoso, Juliana; Leite, Sara; Barros, Ana Cristina; Guedes, Ana; Rodrigues, Cidade; Borges, Teresa; Oliva-Teles, NatáliaAlterations in gonad formation or function can lead to congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. These conditions are referred to as disorders of sex development (DSD) and have a heterogeneous etiology. The assessment of these children by a multidisciplinary team is crucial for an accurate diagnosis and should be initiated promptly due to the potentially life-threatenin...