The gene for multiple endocrine neoplasia type 1 (MENi), an inherited predisposition to neuroendocrine neoplasm of the parathyroid glands, the pancreatic islet parenchyma, and the anterior pituitary gland, was recently mapped to chromosome 11q13 based on genetic linkage in families. We now show that the pathogenesis of MEN1-associated parathyroid lesions involves unmaking of a recessive mutation at the disease locus and that sporadic primary hyperparathyroidism shares the same mechanisms. MENi patients and from 24 patients with sporadic primary hyperparathyroidism were fresh-frozen and stored at -700C.The parathyroid lesions 11-3 LU-HPT and HPT-EZ were obtained from members of the LU and EZ kindreds (3). Specimens of insulinoma parenchyma from case II-1 of the LU kindred (3) were also included.Pituitary tumors from 27 cases, all but one (APA-23) with no signs of MEN1, were obtained by a trans-sphenoidal surgical approach and treated in the same manner. Four
The importance to die at preferred death place is substantial among terminally ill cancer patients.Previously, several studies have investigated this issue, but no systematic review has been made for many years. This systematic review was made in order to investigate preferred death place among cancer patients. A systematic search was made in PubMed library and a total of 399 articles were found, of which 23 were eligible and included in the review. Preference of home death averaged by 59.9% (39.7-100%) across all studies. Information about actual death place was only reported in 12 studies with an average of 40.4% (14-65.2%); thus, the incongruence between preferred and actual death place seems to be substantial. This highlights the importance of health care providers to discuss the issue with the patients and their families. However, study designs must improve and publications of socioeconomic data should be unified to ease interpretation in future studies.
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited predisposition to neoplastic lesions of the parathyroids, pancreas, and the pituitary. We have previously located the predisposing genetic defect to the long arm of chromosome 11 by genetic linkage. In this study, 124 members of six MENi families, including 59 affected individuals, were genotyped for restriction fragment length polymorphisms with different DNA probes, and the genetic linkage between these marker systems and MENi was determined. 13 marker systems (17 DNA probes) were found to be linked to MEN1. These markers are located within a region on chromosome 11 spanning 14% meiotic recombinations, with the MENi locus in the middle. Four of the marker systems are on the centromeric side of MEN1, and four on the telomeric side, based on meiotic crossovers. The remaining five DNA probes are closely linked to MEN1, with no crossovers in our set of families. The 13 marker systems can be used for an accurate and reliable premorbid test for MEN1. In most clinical situations it is possible to identify a haplotype of this part of chromosome 11 with the mutant MENi allele in the middle. The calculated predictive accuracy is > 99.5% if three such marker systems are informative. Therefore, genetic linkage testing can be used for informed genetic counseling in MENi families, and to avoid unnecessary biochemical screening programs. (J. Clin. Invest. 1992.
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