Publications by authors named "P P R Lyra"
Germline BRCA2 loss-of function variants, which can be identified through clinical genetic testing, predispose to several cancers. However, variants of uncertain significance limit the clinical utility of test results. Thus, there is a need for functional characterization and clinical classification of all BRCA2 variants to facilitate the clinical management of individuals with these variants.
View Article and Find Full Text PDF: We aimed to explore whether there is an association between maternal perceived infant discomfort due to suggestive gastrointestinal alterations and oral-health-related quality of life (OHRQoL) through a survey. : The present study included two main phases involving Portuguese-speaking parents with full-term infants aged 2-12 weeks old who were not previously hospitalized in a neonatal nursery. First, the original French Infant Colic Questionnaire (ColiQ) was translated, cross-culturally adapted and validated to Portuguese (ColiQ-PT).
View Article and Find Full Text PDFUp to 70% of patients with Wiskott-Aldrich syndrome (WAS) develop autoimmune and inflammatory manifestations. Dysregulation of interleukin 1 (IL-1) may be involved in their pathogenesis, yet there is little evidence on treatment with anti-IL-1 agents in these patients. We conducted a multicenter retrospective analysis of 9 patients with WAS treated with anti-IL-1 agents (anakinra or canakinumab).
View Article and Find Full Text PDF: Microbial dysbiosis may contribute to alpha-synuclein (α-Syn) homeostasis disruption, yet the burden of inflammatory periodontal infection and its treatment have never been studied in this regard. We aimed to compare the cytokine and α-Syn levels in the saliva and blood of patients with periodontitis who underwent non-surgical periodontal therapy (NSPT) and those of their healthy counterparts. : Periodontal examination and saliva and blood sample collection were carried out in incoming patients at a university clinic.
View Article and Find Full Text PDFArticle Synopsis
- The study explores the use of real-world clinical databases to assess breast cancer genetics, focusing on the prevalence and effectiveness of prevention strategies and treatments, while also highlighting the biases and issues in these data sets that can affect analysis.
- Using a large health network's data, the research involved cleaning and cross-referencing information on variants in genes related to breast cancer, ultimately aiming to improve the accuracy of genetic variant assessments according to established guidelines.
- The findings revealed demographic imbalances in the patient cohort and emphasized that incorrect designations of genetic variants were a major source of data loss, but that manual curation and reassessment can significantly enhance data quality and interpretation.