Blog - INTERNET MÉDICA

Genética Médica: Artigos de Revisão/Diretrizes Médicas (Medical Genetics: Review Articles/Guidelines)

Por Paulo Leite 19/05/2023

■ Hereditary cancer syndromes

E N Imyanitov, E S Klligina, A P Sokolenko et al

World J Clin Oncol 2023, vol 14 (2): 40-68

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9993141/

■ Genetic predisposition to colorectal cancer: How many and whic gene to test?

Francesca Rebuzzi, Paola Ulivi, Gianluca Tedaldi

Int J Mol Sci. 2023 Feb; 24(3): 213

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9916931/

■ Genetics, genomics and emerging molecular therapies of pancreatic cancer

Jakub Liu, Magdalena Mroczek, Anna Mach et al

Cancers (Basel) 2023 Feb; 15(3): 77

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9913594/

■ Genetic counselling and testing in pulmonar arterial hypertension: a consensus statement on behalf of the International Consortium for genetic studies in PAH

Christina A. Eichstaedt, Catharina Belge, Wendy K. Chung

Eur Respir J. 2023 Feb; 61(2): 220147

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947314/

■ Practice guidelines for BRCA1/2 tumour testing in ovarian cancer

Daria Grafodatskaya, Darren D O’Rielly, Karine Bedard et al

J Med Genet. 2022 Aug; 59(8): 727–736

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9340048/

■ UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variantes in cancer predisposition genes: RAD51C,_RAD51D_BRIP1 and PAlB2

Helen Hanson, Anjana Kulkarni, Lucy Loong et al

On behalf of Consensus meeting attendees, Fiona Lalloo

J Med Genet. 2023 May; 60(5): 417–429

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10176381/

■ Automated clinical practice guideline recommendations for hereditary cancer risk using chatbots and ontologies: systemm description

Jordon B Ritchie, Lewis J Frey, Jean-Baptiste Lamy, et al

JMIR Cancer. 2022 Jan-Mar; 8(1): e29289

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8845001/

■ The international WAO/EAACI guideline for the management of hereditary angioedema – The 2021 revision and update

Marcus Maurer, Markus Magerl, Stephen Betschel et al

World Allergy Organ J. 2022 Mar; 15(3): 100627

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9023902/

■ Brazilian consensus for diagnosis, management and treatment of hereditary tansthyretin amyloidosis with peripheral neuropahy: second edition

Marcus Vinicius Pinto, Marcondes Cavalcante França, Jr, Marcus Vinicius Magno Gonçalves et al

Arq Neuropsiquiatr. 2023 Mar; 81(3): 308–321

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104762/

■ Clinical guidelnes for diagnosis and management of juvenile polyposis syndrome in children and adults – secondary publication

Takayuki Matsumoto, Junji Umeno, Keisuke Jimbo, et al

J Anus Rectum Colon. 2023; 7(2): 115–125

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129355/

■ Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

F Brioude, J M Kalish, A Mussa et al

Nat Rev Endocrinol 2018, vol 14 (4): 229-249

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022848/

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■ Médico Responsável: Dr Paulo Fernando Leite

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Belo Horizonte/MG/Brasil

Email: pfleite1873@gmail.com

Maio 2023

Síndrome de Down: Mednews (Down Syndrome: Medical X Press)

Por Paulo Leite 16/05/2023

■ People with Down syndrome are living longer, but the health system still treats many as kids

Tony Leys! Medical X Press – april 2023

https://medicalxpress.com/news/2023-04-people-syndrome-longer-health-kids.html

■ Tracking multiple morbidities across the lifespan in people

King´s College London – april 2023

https://medicalxpress.com/news/2023-04-tracking-multiple-morbidities-lifespan-people.html

■ Examining the cause of leucemia in trysomy 21

Goethe University Frankfurt am Main – march 2023

https://medicalxpress.com/news/2023-03-leukemia-trisomy.html

■ Genomic region for impaired memory function and anxiety in Down syndrome identified

– University College London! February 2023

https://medicalxpress.com/news/2023-02-genomic-region-impaired-memory-function.html

■ Developing a drug to treat Alzheimer´s disease in Down syndrome patients

Paul Tumarkin! University of Arizona – november 2022

https://medicalxpress.com/news/2022-11-drug-alzheimer-disease-syndrome-patients.html

■ Researchers show genetic basis of facial change in Down syndrome

UCL News – april 2023

https://www.ucl.ac.uk/news/2023/apr/researchers-show-genetic-basis-facial-changes-down-syndrome

■ Mechanisms underlying autoimmunity in Down syndrome revealed

The Mount Sinai Hospital – february 2023

https://medicalxpress.com/news/2023-02-mechanisms-underlying-autoimmunity-syndrome-revealed.html