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1.
Clin Genet ; 97(4): 601-609, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32022897

RESUMO

Although multigene panel testing (MGPT) is increasingly utilized in clinical practice, there remain limited data on patient-reported outcomes. BRCA 1/2 negative patients were contacted and offered MGPT. Patients completed pre- and posttest counseling, and surveys assessing cognitive, affective and behavioral outcomes at baseline, postdisclosure and 6 and 12 months. Of 317 eligible BRCA1/2 negative patients who discussed the study with research staff, 249 (79%) enrolled. Decliners were more likely to be older, non-White, and recruited by mail or email. Ninety-five percent of enrolled patients proceeded with MGPT. There were no significant changes in anxiety, depression, cancer specific distress or uncertainty postdisclosure. There were significant but small increases in knowledge, cancer-specific distress and depression at 6-12 months. Uncertainty declined over time. Those with a VUS had significant decreases in uncertainty but also small increases in cancer specific distress at 6 and 12 months. Among those with a positive result, medical management recommendations changed in 26% of cases and 2.6% of all tested. Most BRCA1/2 negative patients have favorable psychosocial outcomes after receipt of MGPT results, although small increases in depression and cancer-specific worry may exist and may vary by result. Medical management changed in few patients.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Predisposição Genética para Doença , Neoplasias/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/genética , Feminino , Aconselhamento Genético/métodos , Testes Genéticos/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/diagnóstico , Neoplasias/epidemiologia , Neoplasias/patologia , Fatores de Risco
3.
Clin Liver Dis ; 22(2): 229-241, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29605063

RESUMO

Acute liver failure is a rare condition with high short-term morbidity and mortality. The most widely accepted definition is an abnormality in coagulation with any degree of encephalopathy in a patient without cirrhosis and an illness duration of less than 26 weeks. Multiple classifications systems are currently in use to help categorize the condition. This article reviews the most commonly used systems. The epidemiologic aspects of the disease are also reviewed, including incidence, prevalence, demographics, geographic distribution, and racial and cultural factors and are discussed for the various subtypes of acute liver failure.


Assuntos
Falência Hepática Aguda/classificação , Acetaminofen/efeitos adversos , Doença Hepática Induzida por Substâncias e Drogas/complicações , Hepatite Viral Humana/complicações , Humanos , Falência Hepática Aguda/epidemiologia , Falência Hepática Aguda/etiologia
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