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31.
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
32.
Based on the dissection of 30 hemi-mandibles, the authors report a study of the inferior alveolar artery in its intraosseous course. On morphologic considerations they propose a classification of the collaterals into two groups: the principal collaterals destined for the teeth and the bony alveolar tissue and the secondary collaterals destined for the sheath and the nerve as well as the bony tissue around the canal. Loss of the teeth and absorption of the alveolar bone modify the caliber of the inferior alveolar arterial axis, the distribution of its collaterals and possibly its mode of termination. These facts suggest a consideration of the vascularization of the mandible in terms of four sectors. They arrive at practical conclusions that may be drawn from this study in stomatology. 相似文献
33.
34.
Sørensen VR Mathiesen ER Watt T Bjorner JB Andersen MV Feldt-Rasmussen B 《Diabetologia》2007,50(11):2254-2262
Aims/hypothesis The aim of this study was to describe the prevalence of complications, health-related quality of life (HRQOL) and the influence
of beliefs about control over health in diabetic dialysis patients.
Methods Of 53 eligible diabetic patients on chronic dialysis during January 2004 in our clinic, 38 (76%) completed a kidney-specific
(Kidney Disease Quality of Life) and a generic (SF-36) questionnaire and were characterised in terms of cardiovascular diseases
and diabetic complications. Matched groups of non-diabetic dialysis patients (n = 40) and diabetic patients with a long duration of diabetes and normal kidney function (n = 38) served as controls. Generic HRQOL was compared with matched data from a survey on the Danish general population (n = 2248).
Results Micro- and macrovascular complications were significantly more frequent in diabetic dialysis patients than in diabetic patients
without renal disease. Self-rated physical health was significantly worse (p < 0.01) in diabetic dialysis patients (35 ± 9 [mean ± SD]) compared with non-diabetic dialysis patients (41 ± 10), diabetic
patients with normal kidney function (45 ± 12) and the matched general population (47 ± 19). The diabetic dialysis patients
had similar levels of kidney-specific quality of life and mental health compared with the control groups. Reduced physical
health was predicted by the presence of end-stage renal disease, diabetes and short time spent in education. Among the diabetic
patients, those who believed more on their own ability to control their diabetes and less on chance reported better mental
health and were less likely to be on dialysis.
Conclusions/interpretations Diabetic dialysis patients are characterised by a high prevalence of diabetic complications, reduced self-rated physical health
but relatively good mental health.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorised users. 相似文献
35.
A total of 140 sets of abdominal radiographs were reviewed independently by four qualified diagnostic radiologists. The degree of interobserver agreement was determined by calculating kappa values for 19 commonly used radiographic signs and diagnoses. There was fair to excellent interobserver agreement for 11 signs and diagnoses and poor agreement for the remaining eight. The signs and diagnoses for which agreement is poor cannot be considered reliable and include particularly large bowel obstruction and nonspecific gas pattern. 相似文献
36.
The effects of section separation on image contrast and calculated T1 relaxation times were investigated in healthy volunteers and a phantom using an early commercial version magnetic resonance imaging system. The effects are explained qualitatively on the basis of side lobes of excitation occurring outside the selected section resulting in reduction of the time permitted for T1 relaxation. The options for dealing with imperfect section selection, including separation of the sections (i.e., leaving gaps) and nonsequential excitation, are illustrated and the trade-offs involved in each explained. 相似文献
37.
Perforation of the inferior vena cava with aortic and vertebral penetration by a suprarenal Greenfield filter 总被引:1,自引:0,他引:1
Various complications have been reported after insertion of the Greenfield filter. This report describes an unusual complication after suprarenal placement of this filter: spreading of the filter struts, with perforation of the inferior vena cava, and penetration of the aorta and a vertebral body, followed by fracture of one of the struts. 相似文献
38.
39.
High-resolution MR imaging with local coils 总被引:4,自引:0,他引:4
We propose the following rules to govern the choice of local coils by the practicing radiologist: 1. Smaller coils permit smaller FOVs and better resolution. The coil should be as small as possible. 2. Match the ROS of the coil to the FOV, which will be determined by the anatomic region of interest. 3. For the case of a choice between surface coils or between a surface and a whole- or partial-volume coil, the anatomic region should lie on the high side of the crossover point. For the case of a choice among whole-volume coils, the smallest coil that surrounds the region of interest should be chosen. 4. Considerations in regard to the anatomic shape or the need to vary the position of the structure may alter the choice of coil from that obtained by S/N considerations alone. 相似文献
40.
White-matter lesions in MR imaging of clinically healthy brains of elderly subjects: possible pathologic basis 总被引:9,自引:0,他引:9
Patchy white-matter lesions occur in the magnetic resonance (MR) imaging brain studies of 20%-30% of neurologically healthy elderly subjects. To determine the frequency of histologically verifiable white-matter lesions at autopsy in such subjects the authors examined serial, microscopic, whole brain sections from 15 clinically healthy subjects aged 52-72 years. Small white-matter lesions were found in 12. In these 12, zones of atrophic perivascular demyelination were present in eight brains. These are not the familiar thrombotic, embolic, or ischemic vascular lesions that produce acute necrosis. This mild vascular insufficiency produces atrophy, which has been recognized in the pathology literature but whose clinical significance remains unknown. Other lesions seen were small vascular malformations in the centrum ovale in four brains, diverticula of the lateral ventricle extending into the white matter in three, and an isolated central white-matter infarction in one. All of these lesions are probably the basis of the patchy white-matter lesions seen on MR imaging studies in the neurologically healthy elderly population. 相似文献