Browsing by Author "Da Silva Cardoso, Juliana"
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- Ambiguous Genitalia: An Unexpected Diagnosis in a NewbornPublication . Losa, Ana; Da Silva Cardoso, Juliana; Leite, Sara; Barros, Ana Cristina; Guedes, Ana; Rodrigues, Cidade; Borges, Teresa; Oliva-Teles, Natália; Soares, Ana Rita; Mota, CéuAlterations 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-threatening nature of congenital adrenal hyperplasia, a common cause of DSD. We present a neonate born at 39 weeks with a weak cry, slight hypotonia, poor suction reflex, peculiar facies, and ambiguous genitalia. From the study carried out, the abdominopelvic ultrasound revealed a nodular structure compatible with the left gonad. Aneuploidy screening confirmed the presence of the Y chromosome. Additionally, normal endocrinological studies and the karyotype showed a genotype compatible with cri-du-chat syndrome with partial trisomy of chromosome 3. Children with cri-du-chat syndrome characteristically exhibit a cat-like cry and distinctive facial features, along with developmental delay and intellectual disability. Duplication of 3p is a rare genetic disorder, usually associated with other chromosomal anomalies and congenital malformations, namely, of the genitals
- Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case DescriptionPublication . 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 age of four months as well as significant developmental delay and microcephaly. The seizures were of different types, frequent and refractory to treatment, including different anticonvulsant drugs. Metabolic studies showed no significant changes. The initial electroencephalogram revealed bilateral paroxysmal activity with hemispherical diffusion. Brain MRI showed no pathological changes. Analysis of a whole exome sequencing (WES) based multigene panel for epilepsy disclosed a heterozygous CYFIP2 gene variant [c.258_266del; p.(Trp86_Ser88del)] established as de novo. We describe the case of an infant with EIEE due to a de novo heterozygous in-frame deletion of three amino acids in CYFIP2: c.258_266del; p.(Trp86_Ser88del). This in-frame deletion eliminates codon 87, a mutational hotspot associated with a particularly severe EIEE phenotype. All previous reports had missense variants with a presumably gain-of-function mechanism. The clinical picture of our patient is very similar to the ones with deleterious variants affecting codon 87 reported in the literature. Our case report is the first to describe a disease-causing in-frame deletion in CYFIP2 and reiterates a consistent genotype-phenotype correlation.
- Food Allergy in Preschoolers: Parents’ Perception and Self-Reported PrevalencePublication . 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 who attend daycare or preschool in an area of the city of Porto, Portugal, were included. Results: A total of 740 questionnaires were distributed to nine schools, and responses were obtained from 363 (49.1%). Self-reported food reaction and/or allergy was related in 11.2% of children. The median age of the first reaction was 12 months and the most registered foods were milk, dry seed, and peanut. Cutaneous (48.7%) and gastrointestinal (35.9%) symptoms were the main manifestations. History of parents' and siblings' food allergies had statistically significant associations with food reactions and/or allergies of the child, with OR 3.05 (p=0.04, 95% CI 1.01-8.81) and OR 8.69 (p<0.01, 95% CI 2.11-35.79), respectively. Besides that, children's atopic dermatitis also had a statistically significant association with self-reported food reactions and/or allergies, with OR 2.30 (p<0.05, 95% CI 1.01-5.21). Conclusion: Food reactions and/or allergies were reported in 11.2% of children. The history of parents' and siblings' food allergies and children's atopic dermatitis had statistically significant associations with food reactions and/or allergies, which shows that it may be an important factor to consider.