Browsing by Author "Figueiredo, Sara"
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- Genomic imbalances defining novel intellectual disability associated lociPublication . Lopes, Fátima; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, Joaquim; Oliveira, Guiomar; Sá, Maria João; Temudo, Teresa; Sousa, Susana; Marques, Carla; Lopes, Sofia; Gomes, Catarina; Barros, Gisela; Jorge, Arminda; Rocha, Felisbela; Martins, Cecília; Mesquita, Sandra; Loureiro, Susana; Cardoso, Elisa Maria; Cálix, Maria José; Dias, Andreia; Martins, Cristina; Mota, Céu R; Antunes, Diana; Dupont, Juliette; Figueiredo, Sara; Figueiroa, Sónia; Gama-de-Sousa, Susana; Cruz, Sara; Sampaio, Adriana; Eijk, Paul; Weiss, Marjan M; Ylstra, Bauke; Rendeiro, Paula; Tavares, Purificação; Reis-Lima, Margarida; Pinto-Basto, Jorge; Fortuna, Ana Maria; Maciel, PatríciaBackground: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 325 Portuguese patients with intellectual disability (ID). Results: We have detected CNVs in 30.1% of the patients, of which 5.2% corresponded to novel likely pathogenic CNVs. For these 11 rare CNVs (which encompass novel ID candidate genes), we identified those most likely to be relevant, and established genotype-phenotype correlations based on detailed clinical assessment. In the case of duplications, we performed expression analysis to assess the impact of the rearrangement. Interestingly, these novel candidate genes belong to known ID-related pathways. Within the 8% of patients with CNVs in known pathogenic loci, the majority had a clinical presentation fitting the phenotype(s) described in the literature, with a few interesting exceptions that are discussed. Conclusions: Identification of such rare CNVs (some of which reported for the first time in ID patients/families) contributes to our understanding of the etiology of ID and for the ever-improving diagnosis of this group of patients.
- Hemangioma infantil ulcerado – há alternativa ao propranolol?Publication . Lopes, Susana; Álvares, Sílvia; Leitão, José Banquart; Figueiredo, SaraIntrodução:Os hemangiomas infantis (HI) afetam cerca de 5% das crianças caucasianas, sendo a ulceração a sua principal complicação. Nos últimos anos, os beta-bloqueadores sistémicos ou tópicos surgiram como primeira linha no tratamento dos HI, sendo ainda controverso o uso do timolol tópico nos HI complicados. Caso clínico:Lactente de seis meses orientado para a consulta de Pediatria por lesão eritematosa ulcerada, dolorosa, localizada a nível da região lombar. A ecografia de partes moles confirmou o diagnóstico de tumefação hemangiomatosa (31x19x20mm) com extensão aos grupos musculares. Iniciado tratamento com timolol tópico 0.5% - gotas oftálmicas e após três meses de tratamento foi verificada cicatrização da região ulcerada do hemangioma, cujas dimensões permaneceram estáveis. Discussão/Conclusões: Os autores pretendem realçar o potencial uso de timolol nos HI ulcerados, como alternativa aos agentes sistémicos. No caso presente mostrou ser eficaz, não se tendo registado efeitos adversos.
- Limitations and perceived delays for diagnosis and staging of lung cancer in Portugal: A nationwide survey analysisPublication . Barata, Fernando; Fidalgo, Paula; Figueiredo, Sara; Tonin, Fernanda S.; Duarte-Ramos, FilipaBackground: We aimed to identify the perception of physicians on the limitations and delays for diagnosing, staging and treatment of lung cancer in Portugal. Methods: Portuguese physicians were invited to participate an electronic survey (Feb-Apr-2020). Descriptive statistical analyses were performed, with categorical variables reported as absolute and relative frequencies, and continuous variables with non-normal distribution as median and interquartile range (IQR). The association between categorical variables was assessed through Pearson's chi-square test. Mann-Whitney test was used to compare categorical and continuous variables (Stata v.15.0). Results: Sixty-one physicians participated in the study (45 pulmonologists, 16 oncologists), with n = 26 exclusively assisting lung cancer patients. Most experts work in public hospitals (90.16%) in Lisbon (36.07%). During the last semester of 2019, responders performed a median of 85 (IQR 55-140) diagnoses of lung cancer. Factors preventing faster referral to the specialty included poor articulation between services (60.0%) and patients low economic/cultural level (44.26%). Obtaining National Drugs Authority authorization was one of the main reasons (75.41%) for delaying the begin of treatment. The cumulative lag-time from patients' admission until treatment ranged from 42-61 days. Experts believe that the time to diagnosis could be optimized in around 11.05 days [IQR 9.61-12.50]. Most physicians (88.52%) started treatment before biomarkers results motivated by performance status deterioration (65.57%) or high tumor burden (52.46%). Clinicians exclusively assisting lung cancer cases reported fewer delays for obtaining authorization for biomarkers analysis (p = 0.023). Higher waiting times for surgery (p = 0.001), radiotherapy (p = 0.004), immunotherapy (p = 0.003) were reported by professionals from public hospitals. Conclusions: Physicians believe that is possible to reduce delays in all stages of lung cancer diagnosis with further efforts from multidisciplinary teams and hospital administration.