21 documents found, page 1 of 3
Eosinophilic esophagitis and somatic symptom disorder: A case report
Rodrigues, Márcia; Guerra Aguiar, InêsThis report describes the case of a 12-year-old male adolescent who presented with anxiety and somatic symptoms manifested as globus pharyngeus sensation and dysphagia following the diagnosis of eosinophilic esophagitis (EoE). Despite histologic and clinical improvement of EoE after treatment, the patient developed a persistent fear of swallowing solid food, accompanied by a sensation of a lump in the throat du...
Report of a rare 3q29 interstitial microdeletion: prenatal diagnosis and postna...
Simão, Laurentino; Pedro, Sónia; Marques, Bárbara; Serafim, Sílvia; Ferreira, Cristina; Tarelho, Ana; Brito, Filomena; Silva, Marisa; Alves, CristinaDistal interstitial deletions in the 3q29 region are rare. The characterization of new prenatal diagnosis (PND) cases and their follow-up may add knowledge about the affected region.
From behavioral inhibition in toddlers to anxiety disorder: Influencing factors
Monteiro, Maria do Rosário; Rodrigues, Márcia; Martins, VâniaBehavioral inhibition (BI), a biologically driven temperamental trait defined by fearful, avoidant, and withdrawn reactions to novelty, is known to represent an early vulnerability in the development of anxiety disorders. Herein is reported the case of two 18-month-old twins whose parents exhibited high levels of anxiety, restricting the infants’ exposure to new stimuli and experiences. One of the twins exhibit...
From behavioral inhibition in toddlers to anxiety disorder: Influencing factors
Monteiro, Maria do Rosário; Rodrigues, Márcia; Martins, VâniaBehavioral inhibition (BI), a biologically driven temperamental trait defined by fearful, avoidant, and withdrawn reactions to novelty, is known to represent an early vulnerability in the development of anxiety disorders. Herein is reported the case of two 18-month-old twins whose parents exhibited high levels of anxiety, restricting the infants’ exposure to new stimuli and experiences. One of the twins exhibit...
A rare cause of intellectual disability
Oliveira, Íris; Fernandes, Andreia; Pereira, Mafalda; Rodrigues, Márcia; Silva, Noémia; Mendonça, CarlaA seven-year-old female was followed in a developmental clinic from the age of nine months due to delayed psychomotor development. The first physical examination showed a newborn with irritability and a large anterior fontanelle. A transfontanellar ultrasound was performed, revealing mild enlargement of the lateral and third ventricles. Head circumference remained below the third percentile until the age of fiv...
Psicose esquizomorfa como apresentação de doença de Huntington: sobre aspectos ...
Gomes, Alexandre; Rodrigues, Márcia; Silva, Bruno; Gonçalves, Eduardo; Santos, EmanuelIntrodução: A doença de Huntington (HD) é a doença neurodegenerativa monogenética mais comum. Alterações comportamentais e psicológicas podem anteceder os sintomas motores e cognitivos. Fenómenos psicóticos atípicos podem ser apresentados por uma minoria de doentes. Objectivos: Apresentação e discussão de um caso clínico com particularidades significativas, desde a anamnese e diagnóstico até considerações terap...
Feeding and eating difficulties in early childhood – Characterization of a chil...
Carvalho e Marques, Pedro; Monteiro, Maria do Rosário; Rodrigues, Márcia; Fernandes, Graça; Martins, VâniaIntroduction: Feeding difficulties in early childhood are among the most common problems reported by parents and may reflect the child’s own characteristics or a relational problem. They are associated with problems in later life, such as behavioral disorders, cognitive deficits, and eating disorders. Materials and Methods: This study was a retrospective, descriptive analysis of sociodemographic and clinical da...
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...
Feeding and eating difficulties in early childhood – Characterization of a chil...
Carvalho e Marques, Pedro; Monteiro, Maria do Rosário; Rodrigues, Márcia; Fernandes, Graça; Martins, VâniaIntroduction: Feeding difficulties in early childhood are among the most common problems reported by parents and may reflect the child’s own characteristics or a relational problem. They are associated with problems in later life, such as behavioral disorders, cognitive deficits, and eating disorders. Materials and Methods: This study was a retrospective, descriptive analysis of sociodemographic and clinical da...
Attention deficit/hyperactivity disorder and eating disorders: a brief review
Rodrigues, Márcia; Azevedo, PatríciaIntroduction: Attention deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder. The relationship between ADHD and eating disorders (EDs) has been recently often considered. Both conditions tend to have an early age of onset and can become chronic and persist into adulthood. Objective: This study aimed to elucidate the prevalence and overlap of ADHD and EDs and review the current evidence ...