Browsing by Author "Bourbon, Mafalda"
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- 10 Dicas para incluir vegetais na alimentação da sua criançaPublication . Câmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, Isabel
- 12 Dicas para a diversificação alimentar do bebéPublication . Câmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, Isabel
- 12 Dicas para combater o inimigo Nº 1 da atividade física: o ecrãPublication . Câmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, Isabel
- 12 Dicas para fazer do seu filho um apreciador da alimentação saudávelPublication . Câmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, Isabel
- 12 Dicas para o sucesso do aleitamento maternoPublication . Câmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, Isabel
- ABCG5 and ABCG8 variants associated to sitosterolemia in ClinVar – state of artPublication . Miranda, Beatriz Raposo; Alves, Ana Catarina; Bourbon, MafaldaSitosterolemia is a rare lipid disorder characterized by the accumulation of plant sterols in the blood, which can lead to several cardiovascular complications. This autosomal recessive disorder is due to pathogenic alterations in ABCG5 and ABCG8 genes. We aimed to assess ClinVar information regarding ABCG5/8 variants possibly causing sitosterolemia. ClinVar was consulted, and all variants submitted as related to “sitosterolemia” were considered (even if some of these were also associated with other phenotypes such as “cardiovascular phenotype”). ClinVar review status of two stars (multiple submissions, no conflicts), one star (single submissions or conflicting interpretations) and no stars (no assertion criteria provided) were considered. The file extracted for ABCG5 analysis contained 295 variants and the file extracted for ABCG8 contained 138 variants. In both files appeared variants mentioning both genes ABCG5/ABCG8 (=11). These were not considered for the descriptive analysis to avoid overcounting. Concerning ABCG5 variants (n=295), 24 are classified as pathogenic/likely pathogenic (3 with review status of two stars, 7 with one, and 6 with no stars); 67 as benign/likely benign (25 with two stars and 42 with one star). Additionally, 160 were classified as variants of uncertain significance (VUS) (61 with two stars, 98 with one, and 1 with no stars), and 44 have conflicting interpretations of pathogenicity (review status of one star). In the ABCG8 variants file (n=138), 16 are classified as pathogenic/likely pathogenic (7 with review status of two stars, 5 with one star, and 4 with no stars); and 26 as benign/likely benign (all with two stars). Additionally, 59 were found classified as VUS (28 with two stars and 31 with one star), and 37 have conflicting interpretations of pathogenicity (review status of one star). Despite there is information in ClinVar about these variants being found in homozygosity/compound heterozygosity in sitosterolemia patients (enabling a genotype-phenotype analysis), the great majority of variants in both genes lack other kind of information as functional characterization and in silico prediction analysis. ClinVar constitutes a fundamental tool for data sharing and to be consulted to know if a specific variant has been reported elsewhere but lacks other important information for variant classification. Although the majority are nonsense variants there are still many missense variants that need other type of information to be classified as pathogenic and this poses an important gap in sitosterolemia diagnosis. It remains crucial to improve the classification and knowledge of ABCG5/8 variants since the correct genetic diagnosis of sitosterolemia is vital for a personalized treatment.
- Adaptation of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemiaPublication . Iacocca, Michael A.; Chora, Joana R.; Freiberger, Tomas; Carrie, Alain; Leigh, Sarah E.; Kurtz, C. Lisa; Tichy, Lukas; DiStefano, Marina T.; Wand, Hannah; Defesche, Joep; Sijbrands, Eric J.; Hegele, Robert A; Knowles, Joshua W.; Bourbon, Mafalda; On behalf of the ClinGen FH Variant Curation Expert PanelBackground: The successes of clinical genetics rely on accurate DNA variant interpretation for the purpose of informing diagnosis and treatment; However, this practice is often rudimentary and differs among diagnostic laboratories, leading to inconsistencies in pathogenicity classification: In response, the Clinical Genome (ClinGen) Resource consortium approves expert panels to recommend disease-specific guidelines to achieve evidence-based, standardized variant curation practice.
- Adaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia – a ClinGen FH Expert Panel pilot studyPublication . Chora, Joana; A. Iacocca, Michael; Lisa Kurtz, C; Carrie, Alain; Tichy, Lukas; E. Leigh, Sarah; T. DiStefano, Marina; Defesche, Joep; J. Sijbrands, Eric; Freiberger, Tomas; A. Hegele, Robert; W. Knowles, Joshua; Bourbon, MafaldaFamilial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism associated with premature atherosclerosis and increased cardiovascular risk. Over 3,000 variants in LDLR, APOB, and PCSK9 have been identified in FH patients; however, <10% of these have been functionally proven to cause disease. The recent ACMG/AMP guidelines for standardized variant interpretation in Mendelian disorders are being used to help further classify FH-associated variants. Despite such efforts, these existing ACMG/AMP guidelines need to be modified to become more disease-specific for FH. In 2016, the Clinical Genome Resource (ClinGen) consortium FH Expert Panel was created with the goal to develop FH-specific variant interpretation guidelines
- Adult cascade screening versus child reverse cascade screening in Familial HypercholesterolemiaPublication . Miranda, Beatriz Raposo; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda; on behalf of the Portuguese FH Study investigatorsFamilial hypercholesterolemia (FH) is a common inherited lipid disorder that predisposes to cardiovascular disease (CVD). Despite most cascade screening programs are initiated by adult index cases, reverse cascade screening pediatric index cases is starting to be described. Therefore, we aimed to assess the outcome of adult cascade screening and child reverse cascade screening strategies in families from the Portuguese FH Study (PFHS). The PFHS database was consulted, and 423 index cases genetically identified with FH (224 adults and 199 children) and their 997 relatives referred to the PFHS were analysed. From 224 adults with FH, 485 relatives were enrolled for cascade screening and 290 were identified with FH. From 199 paediatric cases with FH, 512 relatives were screened and 286 were identified with FH. Child reverse cascade screening presented a slightly higher diagnostic rate than adult cascade screening, 1.44 vs 1.29 new cases with FH per index case, and the age of the relatives identified was younger, 29 vs 37 years. For 94% of index children, relatives were referred (2.56 relatives per index), in contrast with the adult cohort whereas only 70% were referred with family-members (2.17 relatives per index). Overall, both screening approaches constitute valuable tools to identify new cases with FH, but the child reverse cascade screening creates the opportunity for more relatives to be tested at a younger age. It is crucial to improve relatives' recruitment rate since early identification allows a correct FH diagnosis and treatment to prevent CVD.
- Alimentação: dos 0 aos 4 mesesPublication . Câmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, Isabel