http://hdl.handle.net/11422/29218 Thu, 30 Jul 2026 14:07:27 GMT 2026-07-30T14:07:27Z http://hdl.handle.net/11422/29527 Title: Condições extraintestinais associadas à doença celíaca em pediatria - série de casos Author(s)/Inventor(s): Decnop, Letícia Barroso Mangelli Advisor: Vaz, Cássia Freire Abstract: Celiac disease (CD) is a systemic immune-mediated disorder triggered by gluten ingestion in genetically susceptible individuals, with broad clinical manifestations and potential impact on growth, nutritional status, and extraintestinal health. In recent decades, pediatric presentation has shifted from classical malabsorption to predominantly non-classical and extraintestinal forms, often associated with diagnostic delay. This study reports three pediatric cases followed in a tertiary pediatric gastroenterology center, whose initial manifestations were mainly extraintestinal: growth velocity deceleration, dermatitis herpetiformis associated with chronic diarrhea, and positive screening in a patient with type 1 diabetes mellitus without gastrointestinal symptoms. Despite clinical heterogeneity, all patients presented advanced duodenal enteropathy at diagnosis. The implementation of a gluten-free diet resulted in catch-up growth, remission of dermatological manifestations, and clinical improvement, highlighting the impact of early diagnosis. These cases illustrate, in clinical practice, the diagnostic delay in extraintestinal presentations of CD and reinforce the need for high clinical suspicion among pediatricians, as well as systematic screening in high-risk groups, as essential strategies to reduce complications and the systemic burden of the disease during childhood. Publisher: Universidade Federal do Rio de Janeiro Type: Trabalho de conclusão de especialização Thu, 01 Jan 2026 00:00:00 GMT http://hdl.handle.net/11422/29527 2026-01-01T00:00:00Z http://hdl.handle.net/11422/29526 Title: Perfil epidemiológico de pacientes com ataxia crônica em um serviço de neurologia infantil Author(s)/Inventor(s): Silvério, Gabriele Maria Fiorotto Advisor: Rua, Erica Conti Abstract: Introduction: This study analyzed the clinical and epidemiological profile of patients with chronic ataxia at the Child Neurology Service of the Institute of Childcare and Pediatrics Martagão Gesteira (IPPMG). Ataxia is a neurological disorder characterized by motor incoordination, balance impairment, gait, speech and eye movement disorders. In childhood and adolescence, it can be included in a wide etiological range, within genetic, infectious, inflammatory, autoimmune, metabolic, and toxic causes. Methodology: it was carried out in a cross-sectional and observational, retrospective study with 30 patients with chronic ataxia, aged between 0 and 18 years, with a median of 10 years. Results: Data analysis showed a gender-balanced sample, with prevalent clinical manifestations of tremor, followed by hypotonia, falls, and dysmetria. Association with cognitive deficit was seen in 63.33% of cases and epilepsy in 50%. Conclusion: the present study demonstrated the clinical characterization of chronic ataxias in a pediatric cohort, contributing to the literature and reinforcing the relevance of the structured diagnostic approach, directed by the clinic and the main etiological hypothesis. Publisher: Universidade Federal do Rio de Janeiro Type: Trabalho de conclusão de especialização Thu, 01 Jan 2026 00:00:00 GMT http://hdl.handle.net/11422/29526 2026-01-01T00:00:00Z http://hdl.handle.net/11422/29524 Title: O uso do escarro induzido para o diagnóstico da tuberculose pulmonar em crianças e adolescentes em um hospital terciário Author(s)/Inventor(s): Garrido, Raquel Tavares Borba Advisor: Mascarenhas, Michely Alexandrino Pinheiro Abstract: Unavailable. Publisher: Universidade Federal do Rio de Janeiro Type: Trabalho de conclusão de especialização Thu, 01 Jan 2026 00:00:00 GMT http://hdl.handle.net/11422/29524 2026-01-01T00:00:00Z http://hdl.handle.net/11422/29522 Title: Doença Hepática Esteatótica Associada à Disfunção Metabólica (MASLD) e obesidade em pediatria Author(s)/Inventor(s): Guimarães, Cristiane Gomes Advisor: Braga, Alessandra Fernandes Marques Abstract: Metabolic dysfunction-associated steatotic liver disease (MASLD), previously referred to as non-alcoholic fatty liver disease (NAFLD), has emerged as one of the leading causes of chronic liver disease in the pediatric population, associated with the rising prevalence of childhood obesity and early metabolic alterations. This literature review aimed to analyze the therapeutic strategies currently available for the management of MASLD in children and adolescents. To this end, a literature search was conducted in the PubMed/MEDLINE, Scopus, SciELO, and Web of Science databases, considering studies published between 2013 and 2025, including clinical guidelines, consensus statements, systematic reviews, meta-analyses, and original studies. The findings indicate that preventive strategies like lifestyle interventions - focused on weight loss, balanced diet, and regular physical activity - remains the first-line therapy, promoting improvement in the cardiometabolic profile and reduction of hepatic fat. Despite ongoing investigation of pharmacological treatments, such as metformin and GLP-1 receptor agonists, there are still no medications specifically approved for pediatric MASLD, and their use is restricted to individualized contexts. Among supplements, vitamin E shows evidence of histological benefit in selected cases with confirmed steatohepatitis, whereas vitamin D and modulation of the gut microbiota demonstrate promising results, although still insufficient to support routine recommendations Further clinical research is necessary to support specific guidelines for this population. Publisher: Universidade Federal do Rio de Janeiro Type: Trabalho de conclusão de especialização Thu, 01 Jan 2026 00:00:00 GMT http://hdl.handle.net/11422/29522 2026-01-01T00:00:00Z