Genética
Estudo randomizado | Segurança e eficácia da ganaxolona em pacientes com distúrbio da deficiência de CDKL5.
20 Abr, 2022 | 14:53hSafety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial – The Lancet Neurology (link para o resumo – $ para o texto completo)
Estudo randomizado | Mitapivate vs. placebo para deficiência de piruvatoquinase.
19 Abr, 2022 | 12:31hMitapivat versus Placebo for Pyruvate Kinase Deficiency – New England Journal of Medicine
Revisão | Desafios no manejo e avanços terapêuticos na hiperplasia adrenal congênita.
19 Abr, 2022 | 12:29hManagement challenges and therapeutic advances in congenital adrenal hyperplasia – Nature Reviews Endocrinology (se o acesso a este link for pago, tente este)
Comentário no Twitter
New content online: Management challenges and therapeutic advances in congenital adrenal hyperplasia https://t.co/RCH4mRmvYe pic.twitter.com/76Jm00ISV1
— Nature Reviews Endocrinology (@NatureRevEndo) April 11, 2022
M-A | Validade diagnóstica e utilidade clínica de testes genéticos para cardiomiopatia hipertrófica.
18 Abr, 2022 | 15:08hNovas descobertas sobre a etiologia genética da doença de Alzheimer e demências relacionadas.
14 Abr, 2022 | 17:36hComunicado de imprensa: Landmark study reveals 42 new genes associated with increased risk of Alzheimer’s disease – UK Dementia Research Institute
Comentários:
42 previously unknown genes discovered for Alzheimer’s disease – CNN
Alzheimer’s disease research takes ‘major leap forward’ – BBC
Comentário no Twitter
A meta-analysis in @NatureGenet of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia. https://t.co/EAtdlRozld pic.twitter.com/5rtWWt4HyS
— Nature Portfolio (@NaturePortfolio) April 11, 2022
Revisão | Epigenética na doença cardíaca congênita.
11 Abr, 2022 | 12:45hEpigenetics in Congenital Heart Disease – Journal of the American Heart Association
Revisão | Inflamação miocárdica e morte súbita nas cardiomiopatias hereditárias.
11 Abr, 2022 | 12:29hEstudo randomizado | Efeito de diferentes esquemas de doses de corticosteroides sobre os desfechos clínicos em meninos com distrofia muscular de Duchenne.
8 Abr, 2022 | 21:46hEffect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial – JAMA (gratuito por tempo limitado)
Conteúdos relacionados:
RCT: Routine lung volume recruitment is not beneficial for boys with Duchenne muscular dystrophy.
Research: Long-term effects of glucocorticoids in patients with Duchenne muscular dystrophy
Comentário no Twitter
In this randomized clinical trial of boys with Duchenne muscular dystrophy, treatment with daily or daily #deflazacort resulted in significantly better outcomes compared with intermittent prednisone. https://t.co/rKjSrjVemR #AAN2022 pic.twitter.com/qPNV9KBOXv
— JAMA (@JAMA_current) April 5, 2022
Recomendações para relatório de resultados de teste genômico diagnóstico.
8 Abr, 2022 | 21:25hDiretriz de consenso de especialistas sobre testes genéticos nas doenças cardíacas.
6 Abr, 2022 | 12:33hComunicado de imprensa: Recommendations on genetic testing for inherited cardiac diseases published today – European Society of Cardiology
Comentário no Twitter
#EHRA_ESC/Heart Rhythm Society/Asia Pacific Heart Rhythm Society/Latin American Heart Rhythm Society Expert Consensus Statement on the state of genetic testing for cardiac diseases: https://t.co/CLL5EEuK6z#Europace #EHRA2022 @GerdHindricks @ABollmannMD #EPeeps #cardiotwitter pic.twitter.com/3hz4o5ynDh
— European Society of Cardiology Journals (@ESC_Journals) April 4, 2022