Genética
M-A | Variantes patogênicas do BRCA1 e BRCA2 e risco de câncer de próstata.
25 Jan, 2022 | 14:32hRevisão | Risco de câncer de próstata em homens de diferentes ancestrais genéticos e abordagens do rastreamento e do tratamento da doença nesses grupos.
25 Jan, 2022 | 14:31hEstudo MINDACT | Desfecho de pacientes com câncer de mama com risco ultrabaixo em painel genético.
25 Jan, 2022 | 11:36hOutcome of Patients With an Ultralow-Risk 70-Gene Signature in the MINDACT Trial – Journal of Clinical Oncology (link para o resumo – $ para o texto completo)
Conteúdos relacionados:
Comentário no Twitter:
In MINDACT, 15% of the pts (n=1000) had an ultra-low 70-gene signature. Although some had tumors >2 cm (20%) & were LN+ (20%), prognosis was outstanding
8-year DMFI 97%
8-year BCSS 99.6%Most of these patients received adj treatment. Did they need it?https://t.co/V9SH2StuQE
— Paolo Tarantino (@PTarantinoMD) January 22, 2022
M-A | Em pacientes com síndrome coronariana aguda, uma abordagem orientada (p. ex., função plaquetária ou teste genético) para a terapia com inibidores de P2Y12 pode reduzir os eventos adversos cardiovasculares maiores sem aumentar o risco de sangramento.
21 Jan, 2022 | 15:34hComparative effects of guided vs. potent P2Y12 inhibitor therapy in acute coronary syndrome: a network meta-analysis of 61 898 patients from 15 randomized trials – European Heart Journal (link para o resumo – $ para o texto completo)
Comentário: Another Win for Guided P2Y12 Therapy in ACS: Meta-analysis – TCTMD
Comentário no Twitter
Comparative effects of guided vs. potent P2Y12 inhibitor therapy in acute coronary syndrome: a network meta-analysis of 61 898 patients from 15 randomized trials: read more in EHJ!https://t.co/oAehSfPVdt#cardiotwitter @ESC_Journals @escardio pic.twitter.com/AEuH7V6IkR
— EHJ Editor-in-Chief (@ehj_ed) December 23, 2021
Surgimento, diversidade genômica e disseminação global do SARS-CoV-2.
10 Dez, 2021 | 11:31hThe emergence, genomic diversity and global spread of SARS-CoV-2 – Nature
Estudo randomizado | Escore baseado em painel genético para avaliar o benefício da quimioterapia para o câncer de mama com nódulo positivo.
2 Dez, 2021 | 11:17h21-Gene Assay to Inform Chemotherapy Benefit in Node-Positive Breast Cancer – New England Journal of Medicine (link para o resumo – $ para o texto completo)
Comentário no Twitter
Among postmenopausal women with HR–positive, HER2-negative breast cancer, 1-3 positive lymph nodes, and a 21-gene recurrence score of 25 or lower, 5-year invasive disease–free survival was similar whether they received endocrine or chemoendocrine therapy. https://t.co/aZLXBvSHHl pic.twitter.com/EBVnMkGHx4
— NEJM (@NEJM) December 2, 2021
Diretriz de Consenso Internacional sobre diagnóstico, tratamento multidisciplinar e cuidado ao longo da vida de indivíduos com acondroplasia.
29 Nov, 2021 | 10:51hInternational Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia – Nature Reviews Endocrinology (se o acesso a este link for pago, tente este)
Comentário no Twitter
New content online: International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia https://t.co/sP3BbFsc5z pic.twitter.com/fR23dID0Hw
— Nature Reviews Endocrinology (@NatureRevEndo) November 26, 2021
Estudo randomizado | Fertilização in vitro convencional resultou em taxa acumulada de nascidos vivos não inferior às taxas de nascidos vivos com a adição de teste genético pré-implantação para aneuploidia.
29 Nov, 2021 | 10:50hLive Birth with or without Preimplantation Genetic Testing for Aneuploidy – New England Journal of Medicine (link para o resumo – $ para o texto completo)
Comentário: New research casts fresh doubt on a common procedure that promises to increase the odds of IVF – STAT
Nova terapia gênica para hemofilia A induz uma expressão sustentada de fatores de coagulação e reduziu os eventos hemorrágicos.
19 Nov, 2021 | 12:51hComunicado de imprensa: Novel gene therapy for hemophilia a leads to sustained expression of clotting factor and reduced bleeding events – Children’s Hospital of Philadelphia
Estudo original: Multiyear Factor VIII Expression after AAV Gene Transfer for Hemophilia A – New England Journal of Medicine
Comentário no Twitter
3.5 years after therapy with factor VIII-containing adeno-associated virus, 16 of 18 men with hemophilia A had enough factor VIII expression that bleeding events were reduced to nearly zero and prophylaxis was discontinued. https://t.co/n3cPyjGDkn pic.twitter.com/vPyz0OmT1S
— NEJM (@NEJM) November 18, 2021
Debate Pro-Con | Todos os bebês devem ter seu genoma sequenciado ao nascimento?
19 Nov, 2021 | 12:50hShould all babies have their genome sequenced at birth? – The BMJ
Conteúdos relacionados:
Review: Genome sequencing as a diagnostic test.