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1.
J Neurotrauma ; 23(8): 1201-10, 2006 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16928178

RESUMO

Mild traumatic brain injury (MTBI) is a major public health problem in the United States. A significant subset of MTBI patients develop persistent and distressing neurological, cognitive, and behavioral symptoms, known as the post-concussion syndrome (PCS). To date, multiple studies have assessed the relationship between brain-related proteins found in the serum at the time of injury, and the development of PCS. We conducted a systematic review of prospective cohort studies that assessed the ability of serum biochemical markers to predict PCS after MTBI. A total of 11 studies assessing three different potential biochemical markers of PCS--S100 proteins, neuron-specific enolase (NSE), and cleaved Tau protein (CTP)--met selection criteria. Of these markers, S100 appeared to be the best researched. We conclude that no biomarker has consistently demonstrated the ability to predict PCS after MTBI. A combination of clinical factors in conjunction with biochemical markers may be necessary to develop a comprehensive decision rule that more accurately predicts PCS after MTBI.


Assuntos
Biomarcadores/análise , Lesões Encefálicas/metabolismo , Síndrome Pós-Concussão/metabolismo , Animais , Lesões Encefálicas/diagnóstico , Humanos , Fosfopiruvato Hidratase/análise , Fosfopiruvato Hidratase/metabolismo , Proteínas S100/análise , Proteínas S100/metabolismo , Proteínas tau/análise , Proteínas tau/metabolismo
2.
Am J Med Genet A ; 125A(3): 267-72, 2004 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-14994235

RESUMO

Disclosure of the results of a positive genetic mutation to offspring can be challenging. The purpose of this study was to investigate the content and process of disclosure from BRCA1/2 carriers to their offspring. A semi-structured questionnaire focused on the disclosure processes between parent and offspring. Thirty-one/40 mothers with BRCA1/2 mutations completed the cross-sectional survey. Sixteen carriers (51.6%) chose to disclose their results to all of their children, thirteen carriers (41.9%) chose not to disclose their results, and two carriers (6.5%) chose to disclose to some of their children. The age of a child appeared to be the most significant contributing factor in the decision to disclose. The mean age of the offspring who learned of the positive test result was 24.3 years with most carriers advocating the ideal age range for disclosure from 19 to 25 years. There was a discrepancy between actual and potential disclosure topics between those who had disclosed and those who had not disclosed at the time of the survey. Women who disclosed their result tended to do so alone, within a week of learning their own results, equally to male and female offspring and expressed that the relationships between themselves and their children had strengthened since revealing the presence of a genetic mutation in the family. Women who had not disclosed the results of their genetic test to offspring were significantly more interested in receiving additional individual counseling, educational videos, and email newsletters that focus on disclosure of this complex and life altering information compared to those who had already disclosed. Disclosure of BRCA1/2 results is determined primarily by age of offspring, is usually done by women alone, relatively soon after receiving results and appears to enhance the relationships between mothers and offspring. Both disclosed and non-disclosed carriers demonstrated significant interest in a variety of interventions to support the disclosure process.


Assuntos
Neoplasias da Mama/diagnóstico , Revelação , Genes BRCA1 , Genes BRCA2 , Testes Genéticos/psicologia , Heterozigoto , Neoplasias Ovarianas/diagnóstico , Adolescente , Adulto , Neoplasias da Mama/prevenção & controle , Neoplasias da Mama/psicologia , Criança , Estudos Transversais , Coleta de Dados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Ovarianas/prevenção & controle , Neoplasias Ovarianas/psicologia , Relações Pais-Filho , Inquéritos e Questionários
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