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- Lindskog, Stefan, et al.
(author)
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[Phenotypic expression of a mutation in MEN 2A documented in a family in the western part of Sweden]. : Fenotypiskt uttryck av mutation vid MEN 2A kartlagd i västsvensk familj.
- 2001
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In: Lakartidningen. - 0023-7205. ; 98:35
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Journal article (other academic/artistic)abstract
- A missense mutation at codon 618 of the RET proto-oncogene is a rather unusual cause of multiple endocrine neoplasia 2A. We report the phenotypic expression of this specific RET mutation in a large Swedish family. The family was mapped back to the 18th century. Since 1971 the family has been included in a biochemical screening program, and since 1994 has undergone genetic screening. Twenty-seven individuals were found to have medullary thyroid carcinoma (MTC). Eighteen were detected by screening. The incidence of pheochromocytoma (4%) and hyperparathyroidism (7%) was low. Five individuals died of MTC, but of these none had been included in the screening program. One patient underwent prophylactic thyroidectomy after positive genetic screening. MTC tumor aggressivity differed markedly between gene carriers. The screening program shows that the clinical aggressivity of MTC can be mitigated by early and adequate surgical intervention.
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| 2. |
- Fridlund, Bengt, et al.
(author)
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Working conditions among men before and after their first myocardial infarction : implications for a rehabilitative care strategy
- 1992
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In: Clinical Rehabilitation. - : SAGE Publications. - 0269-2155 .- 1477-0873. ; 6:4, s. 299-304
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Journal article (peer-reviewed)abstract
- Disability after myocardial infarction (MI) is a long-lasting problem with multidimensional consequences. The ability to work after an MI is one significant measure of whether rehabilitation is successful or not. A survey study was performed with the aim of surveying men's working situations one year before and one year after their first MI. Data was taken retrospectively from 131 health care and public health insurance files covering one decade. The study showed that individuals over 60 years of age had the most serious difficulties at work both before and after an MI ( p < 0.002 and p < 0.001 respectively). An increased number of early retirements or disability pensions was found after MI, especially among blue-collar employees (p < 0.011). The study indicates that work environment and social class affiliation are two crucial factors when examining why elderly and blue-collar employees are affected. It seems possible that an insufficient coping capacity has developed from a 'bad fit' between the individual and his work environment. This may be a crucial overall factor in triggering ill health and disease.
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| 5. |
- Lindskog, Stefan, et al.
(author)
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Phenotypic expression of a family with multiple endocrine neoplasia type 2A due to a RET mutation at codon 618
- 2004
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In: The British journal of surgery. - : Oxford University Press (OUP). - 0007-1323 .- 1365-2168. ; 91:6, s. 713-8
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Journal article (peer-reviewed)abstract
- BACKGROUND: Multiple endocrine neoplasia type 2A (MEN2A) is caused by missense mutations in the RET proto-oncogene on chromosome 10. This paper reports the phenotypic expression of a family with MEN2A, in which serine substitutes for cysteine at codon 618 in exon 10 of the RET gene. It was first claimed that medullary thyroid cancer (MTC) with this rare mutation led to mild disease; this has recently been updated to intermediate-high risk, based on stratified genetic information. METHODS: The family was mapped over six generations. In 1971 family members were invited to join a screening programme. Genetic testing was started in 1994. RESULTS: Twenty-two individuals with MTC were identified, 16 by the screening programme. One screened patient had a phaeochromocytoma and four had hyperparathyroidism. At surgery for MTC 12 patients had local tumour metastases and two young patients also had liver metastases. No screened patient died from MTC during a mean observation time of 19 years. Six other family members were diagnosed with MTC by signs and symptoms, five of whom died from MTC. CONCLUSION: Because of the great interindividual differences in tumour aggressiveness within the family it is impossible to predict whether an individual gene carrier will have an aggressive MTC or not. This unpredictability is an additional argument, besides those obtained in stratified genetic studies, for operating on gene carriers at young age.
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