Subjective Perspective of a Family With Huntington's Chorea

Lynch, Henry T.; Harlan, William L.; Dyhrberg, John S.

doi:10.1001/archpsyc.1972.01750250055007

Cited by 11 publications

(6 citation statements)

References 11 publications

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“…Individuals opting for neither screening test nor family limitation may be motivated by several factors. These may include the belief that uncertainty is preferable to being informed that Huntington's disease is the certain prospect; and that 30 years or so of life before onset of Huntington's disease symptoms more than compensates for the years with increasing symptoms and the premature death (Hemphill, 1972;Lynch et al, 1972). In any case whether to learn if one is destined for Huntington's disease or for a normal life must be an excruciating decision (Lynch et al, 1972).…”

Section: Discussionmentioning

confidence: 99%

Attitudes of patients and their relatives to Huntington's disease.

Stern¹,

Eldridge²

1975

Journal of Medical Genetics

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Section: Discussionmentioning

confidence: 99%

Attitudes of patients and their relatives to Huntington's disease.

Stern¹,

Eldridge²

1975

Journal of Medical Genetics

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“…Some family members fear that a diagnosis will destroy their ability to live a normal life and prefer to hope for the best rather than know the worst 10 . As reported by a wife about her husband's diagnosis of a dementing illness, “I cope with my feelings about the disease as I do with any other unpleasant intrusion into my life ‐ by ignoring them” 10 .…”

mentioning

confidence: 99%

Spouse Caregivers' Attitudes Toward Obtaining a Diagnosis of a Dementing Illness

Connell

Gallant

1996

J American Geriatrics Society

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Results suggest the need to provide an orientation to the diagnosis and assessment process for patients and family members, develop a training session for physicians to better prepare them to address the emotional needs of patients and families and to disclose the diagnosis in an informative and compassionate manner, and provide outreach education to primary care physicians to increase knowledge and awareness of dementing illnesses and to increase referrals to community-based services and health professionals able to address the concerns of family members.

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“…Will we unduly alarm our patients during the genetic counseling process if we tell them that they have a p16 germline mutation that could predispose them to carcinoma of the pancreas, malignant melanoma, and, possibly, cancer of other sites, when we can't offer them hope for prevention or a cure? This problem, particularly with respect to pancreatic carcinoma, for which diagnosis is given without hope of offering a cure in most individuals, is, in many respects, comparable to the situation with Huntington's disease 168,169. Added to this dilemma is the fact that we don't know the penetrance of the pancreatic cancer susceptibility gene(s).…”

Section: Discussionmentioning

confidence: 99%

“…This problem, particularly with respect to pancreatic carcinoma, for which diagnosis is given without hope of offering a cure in most individuals, is, in many respects, comparable to the situation with Huntington's disease. 168,169 Added to this dilemma is the fact that we don't know the penetrance of the pancreatic cancer susceptibility gene(s). Consequently, we have to admit that, while the risk appears to be increased if there is a p16 gemline mutation the magnitude of the risk is unknown and, unfortunately, the potential cancer control benefit of identifying the mutation is severely limited.…”

Section: Discussionmentioning

confidence: 99%

Hereditary factors in pancreatic cancer

Lynch

Brand

Lynch

et al. 2002

Journal of Hepato-Biliary-Pancreatic Surgery

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The incidence and the mortality rates for pancreatic cancer are the same, indicating its dismal outlook. Its natural history remains elusive. Cigarette smoking appears to be the most significant environmental culprit. Hereditary factors may account for approximately 5% of the total pancreatic cancer burden. However, when its extant heterogeneity and the reduced penetrance of causal germline mutations are considered, the hereditary incidence may significantly exceed this estimate. Even when endoscopic ultrasound (EUS), the gold standard for pancreatic cancer screening, is utilized, early detection with surgical cure has rarely been accomplished. Needed to ameliorate this problem is research into genetic and environmental risk factors and their interaction. The identification of tumor biomarkers which signal early pathogenetic events, thereby enabling pancreatic cancer to be diagnosed at its earliest possible stage before it has spread to regional lymph nodes or to more distant sites, will improve the outlook. We discuss our research approaches to this problem. Members of families with the p16 germline mutation will undergo EUS coupled with the collection of pancreatic juice for the study of a possible gradient for telomerase activity, K- ras mutations, and cytology. If changes in these putative biomarkers are observed, endoscopic retrograde cholangiopancreatography (ERCP) would be the next diagnostic step. We conclude with a discussion of ethical concerns about this research.

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Subjective Perspective of a Family With Huntington's Chorea

Cited by 11 publications

References 11 publications

Attitudes of patients and their relatives to Huntington's disease.

Attitudes of patients and their relatives to Huntington's disease.

Spouse Caregivers' Attitudes Toward Obtaining a Diagnosis of a Dementing Illness

Hereditary factors in pancreatic cancer

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