http://hdl.handle.net/11422/20547 Mon, 20 Jul 2026 09:00:02 GMT 2026-07-20T09:00:02Z http://hdl.handle.net/11422/29442 Title: Investigação familiar do raquitismo hipofosfatêmico ligado ao X-dominante no âmbito clínico-laboratorial Author(s)/Inventor(s): Cipriano, Carolina Alves da Silva Advisor: Ribeiro, Márcia Gonçalves Abstract: Introduction: X-linked dominant hypophosphatemic rickets (XLH) has a worldwide prevalence of 1:20,000, lacking specific data in State of Rio de Janeiro (Brazil). Objectives: To analyze the familial occurrence and clinical-laboratory profile of 32 XLH patients in tertiary institutions in Rio de Janeiro. Methods: Observational, descriptive, cross-sectional study. Variables studied: demographic, clinical, laboratory, and radiographic characteristics; familial occurrence. Results: Study with 32 diagnosed patients (13 index cases, 19 in families. Median age: 25 years; symptom onset: 18 months; average diagnosis: 4 years and 5 months. All of them with short stature, 30/32 with limb deformities, and 29/32 with genu varum. Eighteen patients had hypophosphatemia (mean: 2.6 mg/dl ± 1.1). PHEX gene sequencing identified pathogenic variants in 93%. Discussion: XLH is poorly understood in Brazil, with only 32 cases identified in Rio de Janeiro, mainly in the metropolitan region. The average delay in diagnosis, up to 4 years and 5 months, highlights the urgency of the disease awareness and implementation of specific protocols. Clinical, laboratory, and genetic findings reinforce the complexity of the disease, emphasizing the need for effective strategies for diagnosis and treatment. Conclusion: The metropolitan region is the epicenter of the cases, with 62.5% of familial occurrence. The wide age range of affected individuals, from 5 to 78 years, reflects the chronicity of the condition. Late diagnosis is a pressing issue, with clinical and radiographic findings consistent with the literature. Additionally, PHEX gene sequencing revealed the presence of novel pathogenic variants in 53% of the cases, indicating notable genetic variability. Publisher: Universidade Federal do Rio de Janeiro Type: Dissertação Wed, 27 Dec 2023 00:00:00 GMT http://hdl.handle.net/11422/29442 2023-12-27T00:00:00Z http://hdl.handle.net/11422/29001 Title: Vitamina D em crianças e adolescentes com dermatite atópica em uma região ensolarada: níveis séricos e correlação com a gravidade Author(s)/Inventor(s): Andre, Adriana da Silva Diaz Advisor: Goudouris, Ekaterini Simoes Abstract: The fact that some studies show the role of vitamin D in both the epidermal barrier and the immune system has sparked the interest of many authors in establishing a relationship between its serum levels and some skin diseases, such as atopic dermatitis (AD). This observational study aimed to examine the serum vitamin D levels of children with atopic dermatitis and their correlation with disease severity, as well as to determine whether children with AD can be considered a risk group for vitamin D deficiency. Eighty serum 25(OH)D measurements were performed on 79 children with atopic dermatitis between seven months and 16 years of age between 2021 and 2023. Most patients (82%) presented with vitamin D insufficiency or deficiency, and patients with more severe AD had lower serum levels of 25(OH)D, although this correlation was not statistically significant. It was concluded that vitamin D deficiency was highly prevalent in children with atopic dermatitis living in a sunny region. Publisher: Universidade Federal do Rio de Janeiro Type: Dissertação Wed, 25 Feb 2026 00:00:00 GMT http://hdl.handle.net/11422/29001 2026-02-25T00:00:00Z http://hdl.handle.net/11422/28946 Title: Adaptação transcultural para o português brasileiro do questionário Parent-Report Form For Neonates And Toddlers (0-3 years of age) para avaliação de distúrbios de interação intestino-cérebro em pediatria Author(s)/Inventor(s): Lima, Ana Beatriz de Menezes Advisor: Land, Marcelo Gerardin Poirot Abstract: Functional gastrointestinal disorders (FGD), currently known as gut-brain interaction disorders (DGBI), are recognized as frequent and recurrent gastrointestinal symptoms involving different regions of the digestive tract. These disorders have great clinical and economic relevance, with a negative impact on the quality of life of the entire family, in addition to representing a large part of the demand for pediatric gastroenterology practices. Its diagnosis is based on the Rome IV criteria, translated through a questionnaire prepared by the Rome Foundation in English. The translation and cross-cultural adaptation of this instrument helps in the most appropriate diagnosis, providing a better quality of life for patients. Objective: to carry out the translation and cross-cultural adaptation of the questionnaire “Parent-Report Form For Neonates And Toddlers (0 To 3 Years)” R4PDQ (Rome IV Pediatric Diagnostic Questionnaire) – Neonates and Toddlers into Brazilian Portuguese, observing conceptual, item and semantic equivalences; evaluate acceptability and evaluate content validity index. Method: the process of translation and cross-cultural adaptation of the instrument was based on the universalist model, following the methodological steps proposed internationally, in addition to the translation guidelines recommended by the Rome Foundation: double translation, synthesis and back-translation, analysis by a committee of experts, proposition of a pre-final version, cognitive assessment, content validity index assessment (CVI - number of experts in agreement divided by the total number of experts) and proposition of the final version of the questionnaire. Result: The results of the translated and adapted questionnaire indicated agreement in the comparisons; cognitive assessment demonstrating good understanding and receptivity; CVI equal to 1. The final questionnaire and the favorable opinion of the Brazilian monitor in Rome were sent to the Foundation, with final approval of the questionnaire translated and adapted into Brazilian Portuguese. Conclusion: the translation and cross-cultural adaptation of the questionnaire “Parent-Report Form For Neonates And Toddlers (0-3 Years Of Age)” for assessing DGBI in Pediatrics into Brazilian Portuguese was successfully achieved and demonstrated to be understandable. This questionnaire may help and encourage new projects on DGBI in the pediatric population. Publisher: Universidade Federal do Rio de Janeiro Type: Dissertação Fri, 29 Nov 2024 00:00:00 GMT http://hdl.handle.net/11422/28946 2024-11-29T00:00:00Z http://hdl.handle.net/11422/28943 Title: Adaptação transcultural do questionário “parent-report form for children and adolescents (4 years of age and older)” para avaliação de distúrbios da interação intestino-cérebro em pediatria Author(s)/Inventor(s): Tomé, Thaís Moreno Advisor: Land, Marcelo Gerardin Poirot Abstract: Introduction: Disorders of gut-brain interaction (DGBIs) include a variety of recurrent gastrointestinal symptoms, not associated with structural or biochemical abnormalities that make their diagnosis difficult. They are evaluated based on clinical criteria defined by the Rome Foundation, which also develops diagnostic questionnaires. It is essential that they are validated and adapted for use in the target population. Objective: Perform the translation and cross-cultural adaptation of the questionnaires developed by the Roma Foundation for the diagnosis of DGBIs in children 4 years of age and older. Methods: The cross-cultural adaptation protocol followed theoretical references and guidelines from the Rome Foundation, with the following steps.: (i) Preparation; (ii) Forward Translation; (iii) Reconciliation; (iv) Backward translation; (v) Review of the backward translation; (vi) Cognitive debriefing; (vii) Calculation of the Item Content Validity Index; (viii) Final review and (ix) Approval by the Rome Foundation. Results: During the translation stage, priority was given to a version that would be easily understood by people from different parts of the country and social backgrounds, and that encompassed the largest number of regional expressions. In the backward translation, 85% of the items remained unchanged or had minor alterations, indicating adequate equivalence. The cognitive debriefing showed understanding above 90% in the first stage, demonstrating that the questionnaire is clear and easy to answer. After the evaluation of the 5 judges, the content validity index resulted in a value of 0.99, indicating the reliability of the cross-cultural adaptation and suitability of the questionnaire. Conclusions: The cross-cultural adaptation to Brazilian Portuguese of the diagnostic questionnaire for DGBIs in children over 4 years old was successful and officially approved by the Rome Foundation, enabling its use in local and global epidemiological studies. Publisher: Universidade Federal do Rio de Janeiro Type: Dissertação Thu, 10 Oct 2024 00:00:00 GMT http://hdl.handle.net/11422/28943 2024-10-10T00:00:00Z