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Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. The Multiple Sclerosis Genetics Group 总被引:5,自引:0,他引:5
Haines JL; Terwedow HA; Burgess K; Pericak-Vance MA; Rimmler JB; Martin ER; Oksenberg JR; Lincoln R; Zhang DY; Banatao DR; Gatto N; Goodkin DE; Hauser SL 《Human molecular genetics》1998,7(8):1229-1234
Multiple sclerosis (MS) is a demyelinating autoimmune disease of the
central nervous system. While its etiology is not well understood, genetic
factors are clearly involved. Until recently, most genetic studies in MS
have been association studies using the case-control design testing
specific candidate genes and studying only sporadic cases. The only
consistently replicated finding has been an association with the HLA-DR2
allele within the major histocompatibility complex (MHC) on chromosome 6.
Using the genetic linkage design, however, evidence for and against linkage
of the MHC to MS has been found, fostering suggestions that sporadic and
familial MS have different etiologies. Most recently, two of four genomic
screens demonstrated linkage to the MHC, although specific allelic
associations were not tested. Here, a dataset of 98 multiplex families was
studied to test for an association to the HLA-DR2 allele in familial MS and
to determine if genetic linkage to the MHC was due solely to such an
association. Three highly polymorphic markers (HLA-DR, D6S273 and TNFbeta)
in the MHC demonstrated strong genetic linkage (parametric lod scores of
4.60, 2.20 and 1.24, respectively) and a specific association with the
HLA-DR2 allele was confirmed (TDT; P < 0.001). Stratifying the results
by HLA-DR2 status showed that the linkage results were limited to families
segregating HLA-DR2 alleles. These results demonstrate that genetic linkage
to the MHC can be explained by the HLA-DR2 allelic association. They also
indicate that sporadic and familial MS share a common genetic
susceptibility. In addition, preliminary calculations suggest that the MHC
explains between 17 and 62% of the genetic etiology of MS. This
heterogeneity is also supported by the minority of families showing no
linkage or association with loci within the MHC.
相似文献
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Medical advice by telephone at Swedish health centres: who calls and what are the problems? 总被引:4,自引:0,他引:4
Advice by telephone is an important activity at Swedish health centres and is mainly dealt with by nurses. This telephone counselling was studied during one week (Monday to Friday) at six Swedish health centres which were representative of rural as well as of urban populations. Based on the figures obtained from this study it could be calculated that about 20 million calls of this type are dealt with at Swedish health centres each year (population of Sweden about eight million). It was more common for women than for men to contact the health centre by telephone. About 70% of the calls were made by the patients themselves. Pain was the most common reason for contacting the health centre by telephone, followed by signs of infection. The majority of the telephone calls dealt with sick care, a minority were classified as administrative. About 40% of all calls were managed by the telephone adviser without involving the doctor at the health centre. Of all incoming calls, 44% resulted in an appointment time for a visit to a physician at the health centre, more than half of these being given for a visit during the same day. As the telephone counsel function is an important part of the activity at a Swedish health centre, it is important to evaluate its content and consequences. 相似文献
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When inferior vena caval obstruction complicates the Budd-Chiari syndrome, conventional portosystemic shunts are not possible. The mesoatrial shunt has been devised to enable portal and sinusoidal decompression in these patients. Findings in 12 patients with Budd-Chiari syndrome and inferior vena caval obstruction in whom a mesoatrial shunt was performed are reported. Preoperative inferior vena cavography with pressure measurements is essential to determine the appropriate shunt procedure. Postoperatively, shunt patency is assessed with superior mesenteric arterial portography. Where possible, transvenous catheterization of the shunt is performed to confirm patency and assess hemodynamic function. 相似文献
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B Marklund C Bengtsson P Bryntesson R M F?rssell K Kjellberg D Severinson A Starke 《Scandinavian journal of primary health care》1991,9(3):161-166
All contacts with the district nurses were registered during a three-week period, daytime Monday to Friday, in a defined primary health care district (V?nersborg, Sweden): 855 incoming telephone calls, 1,016 visits to the district nurses (visits to child welfare unit excluded), and 380 home visits made by the district nurses. The telephone consultations comprised 38% of the total number of contacts and 14% of the time was devoted to this activity, visits to the district nurses at their reception units 45% of all contacts and 39% of the time, and home visits 17% and 47%, respectively. Symptoms from the upper respiratory tract and from the skin were the most common reasons for telephone consultations, while wounds and leg ulcers were the most common reasons for visits to the reception unit and for home visits. A great deal of the district nurse's work was requested by health centres and hospitals. 相似文献