نتایج جستجو برای: genetics counseling
تعداد نتایج: 106945 فیلتر نتایج به سال:
Pulmonary arterial hypertension (PAH) is characterized by obstruction of pre-capillary pulmonary arteries, which leads to sustained elevation of pulmonary arterial pressure. Identifying those at risk through early interventions, such as genetic testing, may mitigate disease course. Current practice guidelines recommend genetic counseling and offering genetic testing to individuals with heritabl...
All over the world, the increased awareness of the importance of early diagnosis of genetic diseases has given them priority in primary health care. However, more recent surveys indicate that genetics content is still lacking in nursing curricula. This survey aimed to measure the current status of primary care nurses' knowledge about genetics and genetic counseling, and the educational needs of...
There is a significant body of research indicating having a genetic condition is emotionally burdensome for the individual and their family. One goal of cancer genetic counselling is to assist patients to adapt to the news that they and family members are at significantly increased risk of developing cancer. Numerous studies have shown that the majority of patients who attend cancer genetic ser...
OBJECTIVE To assess the level of a cohort of pediatric otolaryngologists' knowledge and understanding of genetics and genetic testing for deafness and hard of hearing (D/HOH). METHODS A questionnaire was designed to assess the level of knowledge and understanding of the genetic basis and genetic testing for deafness among a cohort of pediatric otolaryngologists. Three hundred questionnaires w...
Randomised controlled trials allow comparisons to be made between different models of service delivery, but have not been used in the field of clinical genetics. With the advent of clinical governance, the evidence provided by such trials will be increasingly important in informing and shaping clinical genetics practice. The TRACE project (Trial of genetic assessment in breast cancer) is a rand...
This article focuses on how occupational roles and working relationships have changed over time for individuals involved in genetic counselling in Canada. It begins with a review of the stages of consensus that were reached about a role for geneticists and genetic counselling in clinical settings and, second, the formation of medical genetics as a service specialism. Interviews conducted by the...
BACKGROUND Frontotemporal dementia (FTD) is a neurodegenerative disease with early symptoms of personality change and/or language disorder. Approximately 40% of individuals with FTD have a family history of dementia; however, in our experience, less than 10% have clear autosomal dominant inheritance. Mutations in the microtubule-associated protein tau (MAPT) gene have been reported in up to 50%...
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