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1.
Eur J Hum Genet ; 31(3): 257-261, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36631541

RESUMO

A Community Genetics carrier screening program for the Jewish community has operated on-site in high schools in Sydney (Australia) for 25 years. During 2020, in response to the COVID-19 pandemic, government-mandated social-distancing, 'lock-down' public health orders, and laboratory supply-chain shortages prevented the usual operation and delivery of the annual testing program. We describe development of three responses to overcome these challenges: (1) pivoting to online education sufficient to ensure informed consent for both genetic and genomic testing; (2) development of contactless telehealth with remote training and supervision for collecting genetic samples using buccal swabs; and (3) a novel patient and specimen identification 'GeneTrustee' protocol enabling fully identified clinical-grade specimens to be collected and DNA extracted by a research laboratory while maintaining full participant confidentiality and privacy. These telehealth strategies for education, consent, specimen collection and sample processing enabled uninterrupted delivery and operation of complex genetic testing and screening programs even amid pandemic restrictions. These tools remain available for future operation and can be adapted to other programs.


Assuntos
COVID-19 , Humanos , COVID-19/epidemiologia , Pandemias , Manejo de Espécimes/métodos , Consentimento Livre e Esclarecido , Testes Genéticos
2.
Leuk Lymphoma ; 64(3): 597-604, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-35673767

RESUMO

Infections originating in the skin/soft tissue are a major cause of mortality in cutaneous T-cell lymphoma (CTCL). We performed a retrospective analysis to characterize cutaneous cultures and assess risk factors for bacteremia among 69 patients with CTCL. Cutaneous infections and antimicrobial resistance were common. Black race and lymph node involvement were associated with bacteremia. Mitigating strategies for invasive infections in CTCL remain unclear. HighlightsSkin/soft tissue infections are common in cutaneous T-cell lymphoma (CTCL).Black race, lymph node involvement, and positive cultures for S. aureus, Gram-negative bacteria, or multiple organisms were associated with an increased rate of bacteremia.The role of antimicrobial prophylaxis and staphylococcus decolonization is unclear.


Assuntos
Bacteriemia , Linfoma Cutâneo de Células T , Micose Fungoide , Síndrome de Sézary , Neoplasias Cutâneas , Humanos , Staphylococcus aureus , Micose Fungoide/patologia , Síndrome de Sézary/patologia , Estudos Retrospectivos , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/patologia , Linfoma Cutâneo de Células T/complicações , Linfoma Cutâneo de Células T/patologia , Bacteriemia/etiologia
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