| 1. |
- Kreicbergs, Ulrika, et al.
(författare)
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Talking about death with children who have severe malignant disease.
- 2004
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Ingår i: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 351:12, s. 1175-1186
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: One of the questions faced by the parents of a child who is terminally ill with a malignant disease is whether or not they should talk about death with their child.METHODS: In 2001, we attempted to contact all parents in Sweden who had lost a child to cancer between 1992 and 1997. Among 561 eligible parents, 449 answered a questionnaire, and 429 stated whether or not they had talked about death with their child.RESULTS: None of the 147 parents who talked with their child about death regretted it. In contrast, 69 of 258 parents (27 percent) who did not talk with their child about death regretted not having done so. Parents who sensed that their child was aware of his or her imminent death were more likely to regret not having talked about it (47 percent, as compared with 13 percent of parents who did not sense this awareness in their child; relative risk, 3.7; 95 percent confidence interval, 2.3 to 6.0). The same variable was related to having talked about death (50 percent vs. 13 percent; relative risk, 3.8; 95 percent confidence interval, 2.6 to 5.6), as was being religious (42 percent vs. 25 percent; relative risk, 1.7; 95 percent confidence interval, 1.2 to 2.3). The child's age was related to both having talked about death and the parents' regretting not having talked about it.CONCLUSIONS: Parents who sense that their child is aware of his or her imminent death more often later regret not having talked with their child than do parents who do not sense this awareness in their child; overall, no parent in this cohort later regretted having talked with his or her child about death.
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| 2. |
- Kremer, B, et al.
(författare)
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A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats.
- 1994
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Ingår i: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 330:20, s. 1401-6
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Huntington's disease is associated with an expanded sequence of CAG repeats in a gene on chromosome 4p16.3. However, neither the sensitivity of expanded CAG repeats in affected persons of different ethnic origins nor the specificity of such repeats for Huntington's disease as compared with other neuropsychiatric disorders has been determined.METHODS: We studied 1007 patients with diagnosed Huntington's disease from 565 families and 43 national and ethnic groups. In addition, the length of the CAG repeat was determined in 113 control subjects with a family history of Alzheimer's disease (44 patients), schizophrenia (39), major depression (16), senile chorea (5), benign hereditary chorea (5), neuroacanthocytosis (2), and dentatorubropallidoluysian atrophy (2). The number of CAG repeats was also assessed in 1595 control chromosomes, with the size of adjacent polymorphic CCG trinucleotide repeats taken into account.RESULTS: Of 1007 patients with signs and symptoms compatible with a diagnosis of Huntington's disease, 995 had an expanded CAG repeat that included from 36 to 121 repeats (median, 44) (sensitivity, 98.8 percent; 95 percent confidence interval, 97.7 to 99.4 percent). There were no significant differences among national and ethnic groups in the number of repeats. No CAG expansion was found in the 110 control subjects with other neuropsychiatric disorders (specificity, 100 percent; 95 percent confidence interval, 95.2 to 100 percent). In 1581 of the 1595 control chromosomes (99.1 percent), the number of CAG repeats ranged from 10 to 29 (median, 18). In 12 control chromosomes (0.75 percent), intermediate-sized CAG sequences with 30 to 35 repeats were found, and 2 normal chromosomes unexpectedly had expanded CAG sequences, of 39 and 37 repeats.CONCLUSIONS: CAG trinucleotide expansion is the molecular basis of Huntington's disease worldwide and is a highly sensitive and specific marker for inheritance of the disease mutation.
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