Blog - INTERNET MÉDICA

Anemia de Fanconi (Fanconi Anemia)

Por Paulo Leite 07/03/2023

– A anemia de Fanconi, também conhecida como síndrome de pancitopenia de Fanconi, é uma doença genética rara e heterogênea, encontrada em todos os grupos étnicos e observada em cerca de 1 em cada 360 mil nascimentos.

– Atualmente, é considerada a causa hereditária mais comum de falência da medula óssea. Os pacientes têm um risco aumentado para tumores hematológicos e sólidos (aqui estão incluídos leucemia, carcinomas e tumores hepáticos).

■ Modern management of Fanconi anemia

Carlo Dufour, Filomena Pierri

Hematology Am Soc Hematol Educ Program. 2022 (1): 649-65

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9821189/

■ A narrative review on Fanconi anemia: genetic and diagnostic considerations

Preksha Sharma, Neha Sharma, Dhruva Sharma

Glob Med Genet. 2022 Sep; 9(3): 237–241

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9444348/

■ Fanconi anemia: examining guidelines for testing all patient with hand anomalies using a machine learning approach

Christoph Wallner, Jane Hurst, Björn Behr, et al

Children (Basel) 2022 Jan; 9(1): 85

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774393/

■ IL17A and IL17RA gene polmorphisms in Falconi anemia

R Z Mobile, M C Mendes, C Machado-Souza et al

Brazilian Oral Research 2023, vol 37:

https://www.scielo.br/j/bor/a/v7HJHpPcfS47YfVkLxPcDTL/?lang=en

■ Diagnósticos de enfermagem em transplantados de células-tronco hematopoéticas por anemia de Fanconi

L C S Sandri, L Pontes, C M S Bonfim, S Z Kusma

Rev Bras. Enferm 2022, vol 75 (3)

https://www.scielo.br/j/reben/a/3jP67HLFCYHpHyWvwN6qTzv/?lang=en

■ Management of oral leukoplakia in patients with Fanconi anemia

Roberto Pippi, Cira Di Gioia, Ursula La Rocca et al

J Oral Maxillofac Pathol. 2022 Feb; 26(Suppl 1): S133–S138

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9017844/

■ Head and neck cancer susceptilbility and metabolismo in Fanconi anemia

Tafadzwa Chihanga, Sara Vicente-Muñoz, Sonya Ruiz-Torres et al

Cancers (Basel) 2022 Apr; 14(8): 2040

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9025423/

■ Metformin for treatment of cytopenias in children and young adults with Fanconi anemia

Jessica A. Pollard, Elissa Furutani, Shanshan Liu, et al

Blood Adv. 2022 Jun 28; 6(12): 3803–3811

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631552/

■ Fanconi anemia and dyskeratosis congênita/telomere biology disorders: two inherited bone marrow failure syndromes with genomic instability

Moisés Ó. Fiesco-Roa, Benilde García-de Teresa, Paula Leal-Anaya et al

Front Oncol. 2022; 12: 949435

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9453478/

■ A new multi-color FISH assay for Brush biopsy-based detection of chromosomal aneuploidy in oral (pre) cancer in patients with Fanconi anemia

Bruno Eduardo Silva de Araujo, Mona Markgraf, Isabela Karoline de Santana Almeida Araujo et al

Cancers (Basel) 2022 Jul; 14(14): 3468

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319768/

■ Detection of cytogenetic changes and chromosomal aneuploidy with fluorescente in situ hybridization in cytological specimens of oral cancers in Fanconi anemia – proof of concept

Bruno Eduardo Silva de Araujo, Eunike Velleuer, Ralf Dietrich et al

Clin Exp Dent Res. 2022 Feb; 8(1): 108–116

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8874072/

■ Self-perception of periodontal health status among individuals with Fanconi anemia

N N Perdoncini, C P Furquin, C M S Bonfim et al

Hematology, Transfusion and Cell Therapy 2021, vol 43 (4): 453-458

https://www.scielo.br/j/htct/a/nyxjTkVMm8RZxvKtjJqSspp/?lang=en

■ Características clínicas de pacientes com anemia de Fanconi

P R G Zen, F N de Moraes, R F M Rosa et al

Rev.paul.pediatr 2011, vol 29 (3)

https://www.scielo.br/j/rpp/a/nYnFHby3bKzpRCnJRxNSLFJ/?lang=pt

■ Acesso gratuito

■ Um dos Blog de Medicina mais acessado em todo o mundo. Mais de 810 temas médicos já disponíveis online

■ Use o mecanismo de busca – PESQUISAR na home page.

■ Acesse ARQUIVO e encontre os temas incluídos no Blog a cada mês, desde maio 2017

■ Blog Internet Médica – www.internetmedica.com.br

■ Médico Responsável: Dr Paulo Fernando Leite

CRMMG: 7026

Belo Horizonte/MG/Brasil

Email: pfleite1873@gmail.com

Março 2023

Fibrilação Atrial: Perguntas & Respostas (Atrial Fibrillation: Questions & Answers)

Por Paulo Leite 07/03/2023

■ What is next for screening for undiagnosed atrial fibrillation? Artificial intelligence may hold the key

Ramesh Nadarajah, Jianhua Wu, Alejandro F Frangi et al

Eur Heart J Qual Care Clin Outcomes. 2022 Jul; 8(4): 391–397

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170568/

■ Atrial fibrillation after cardiac surgery: to screen or not to screen?

Barbara Casadei, Rohan Wijesurendra

Cardiovasc Res. 2021 Feb 1; 117(2): e21–e23

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820854/

■ Which recommendations are you using? A survey of emergency physician management of paroxysmal atrial fibrillation

Ryan C. Daniel, Clare L. Atzema, Dennis D. Cho, et al

CJC Open. 2022 May; 4(5): 466–473

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9123374/

■ Is the association of QTc with atrial fibrillation and stroke in cohort studies a matter of time?

N Radnahad, H Ehrlinder, K Leander et al

Open Heart 2022, vol 9 (2): e002080

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528598/

■ How is atrial fibrillation detected in every day healthcare? Results of a Dutch cohort study

N Verbiest-van Gurp, S B Uittenbogaart, S C M van de Moosdijk et al

Neth Heart J 2023, vol 31: 76-82

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9892390/

■ Do baseline characteristics and treatment account for geographical disparities in the outcomes of patients with newly diagnosed atrial fibrillation? The prospective GARFIELD-AF registry

Keith A A Fox, Saverio Virdone, Jean-Pierre Bassand, A John

GARFIELD-AF investigators

BMJ Open. 2022; 12(1): e049933

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744109/

■ Will smarthphone applications replace the insertable cardiac monitor in the detection of atrial fibrillation? The first comparison in a case report of a cryptogenic stroke patient

Femke Wouters, Henri Gruwez, Julie Vranken et al

Front Cardiovasc Med. 2022; 9: 839853

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8985924/

■ Permanent left atrial thrombi after multiple atrial fibrillation ablations: acquired Virchow´s triad?

Saif Ali, Vandad Saadat, Michael Lawrenz Co, Tahmeed Contractor et al

HeartRhythm Case Rep. 2022 Oct; 8(10): 715–718

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9596357/

■ Can CHA2DS2-VASc and HAS-BLED foresee the presence of cerebral microbleeds, lacunar and non-lacunar infarcts in eldely patients with atrial fibrillation? Data from Strat-AF Study

Elisa Bianconi, Giulia Del Freo, Emilia Salvadori, et al

Front Neurol. 2022; 13: 883786.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9135961/

■ Blood-brain barrier disruption in atrial fibrillation: a potential contributor to the increased risk of dementia and worsening of stroke outcomes?

Ritambhara Aryal, Adjanie Patabendige

Open Biol. 2021 Apr; 11(4): 200396

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059575/

■ Fibrilação Atrial: Artigos de Revisão IV (Atrial Fibrillation: Reviews IV)

Arquivos Blog Internet Médica – dezembro 2022

https://internetmedica.com.br/fibrilacao-atrial-artigos-de-revisao-iv-atrial-fibrillation-reviews-iv/

■ Fibrilação Atrial: Artigos de Revisão III (Atrial Fibrillation: Reviews III)

Arquivos Blog Internet Médica – maio 2022

https://internetmedica.com.br/fibrilacao-atrial-artigos-de-revisao-iii-atrial-fibrillation-reviews-iii/

■ Fibrilação Atrial: Artigos de Revisão II (Atrial Fibrillation: Reviews II)

Arquivos Blog Internet Médica – julho 2019

https://internetmedica.com.br/fibrilacao-atrial-artigos-de-revisao-online-atrial-fibrillation-reviews-2/