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排序方式: 共有719条查询结果,搜索用时 15 毫秒
1.
Incidence and clinical features of glossopharyngeal neuralgia, Rochester, Minnesota, 1945-1984. 总被引:2,自引:0,他引:2
The annual crude incidence rate of glossopharyngeal neuralgia per 100,000 population in Rochester, Minn., for 1945 through 1984, was 0.7 for both sexes combined, suggesting that glossopharyngeal neuralgia is a rare disease. There were no significant differences between the sexes (p greater than 0.10) in the overall age-adjusted (to the total 1980 US population) rates: 1.1 for men and 0.5 for women. Overall age-specific crude rates increased slightly with age. Our results and conclusions, achieved by comparing our data with a large referral study at Mayo Clinic, suggest that glossopharyngeal neuralgia is generally a mild disease, since mild attacks are not uncommon, the average annual recurrence rate for a second episode is low (3.6%), and only one fourth of the cases had to have surgery for relief of symptoms. Bilaterality is not uncommon; it was observed in one fourth of the patients, all of whom had mild disease. 相似文献
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Steenbergen EJ; Verhagen OJ; van Leeuwen EF; van den Berg H; von dem Borne AE; van der Schoot CE 《Blood》1995,86(2):692-702
Crosslineage T-cell receptor delta (TCR delta) rearrangements are widely used as tumor markers for the follow up of minimal residual disease in childhood B-precursor acute lymphoblastic leukemia (ALL) by polymerase chain reaction (PCR). The major drawback of this approach is the risk of false-negative results due to clonal evolution. We investigated the stability of V delta 2D delta 3 rearrangements in a group of 56 childhood B-precursor ALL patients by PCR and Southern blot analysis. At the PCR level, V delta 2D delta 3-to-J alpha rearranged subclones (one pathway for secondary TCR delta recombination) were demonstrated in 85.2% of V delta 2D delta 3-positive patients tested, which showed that small subclones are present in the large majority of patients despite apparently monoclonal TCR delta Southern blot patterns. Sequence analysis of V delta 2D delta 3J alpha rearrangements showed a biased J alpha gene usage, with HAPO5 and J alpha F in 26 of 32 and 6 of 32 clones, respectively. Comparison of V delta 2D delta 3 rearrangement status between diagnosis and first relapse showed differences in seven of eight patients studied. In contrast, from first relapse onward, no clonal changes were observed in six patients studied. To investigate the occurrence of crosslineage TCR delta rearrangements in normal B and T cells, fluorescence-activated cell sorter-sorted peripheral blood CD19+/CD3- and CD19-/CD3+ cell populations from three healthy donors were analyzed. V delta 2D delta 3 rearrangements were detected at low frequencies in both B and T cells, which suggests that V delta 2-to-D delta 3 joining also occurs during normal B-cell differentiation. A model for crosslineage TCR delta rearrangements in B-precursor ALL is deduced that explains the observed clonal changes between diagnosis and relapse and is compatible with multistep leukemogenesis of B-precursor ALL. 相似文献
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Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains 总被引:6,自引:2,他引:6
Flint J; Bates GP; Clark K; Dorman A; Willingham D; Roe BA; Micklem G; Higgs DR; Louis EJ 《Human molecular genetics》1997,6(8):1305-1313
We have sequenced and compared DNA from the ends of three human
chromosomes: 4p, 16p and 22q. In all cases the pro-terminal regions are
subdivided by degenerate (TTAGGG)n repeats into distal and proximal sub-
domains with entirely different patterns of homology to other chromosome
ends. The distal regions contain numerous, short (<2 kb) segments of
interrupted homology to many other human telomeric regions. The proximal
regions show much longer (approximately 10-40 kb) uninterrupted homology to
a few chromosome ends. A comparison of all yeast subtelomeric regions
indicates that they too are subdivided by degenerate TTAGGG repeats into
distal and proximal sub-domains with similarly different patterns of
identity to other non-homologous chromosome ends. Sequence comparisons
indicate that the distal and proximal sub-domains do not interact with each
other and that they interact quite differently with the corresponding
regions on other, non- homologous, chromosomes. These findings suggest that
the degenerate TTAGGG repeats identify a previously unrecognized,
evolutionarily conserved boundary between remarkably different subtelomeric
domains.
相似文献
7.
Canfield MC; Tamarappoo BK; Moses AM; Verkman AS; Holtzman EJ 《Human molecular genetics》1997,6(11):1865-1871
Congenital nephrogenic diabetes insipidus (NDI) is a rare disease caused
most often by mutations in the vasopressin V2 receptor (AVPR2). We studied
a family which included a female patient with NDI with symptoms dating from
infancy. The patient responded to large doses of desmopressin (dDAVP) which
decreased urine volume from 10 to 4 I/day. Neither the parents nor the
three sisters were polyuric. The patient was found to be a compound
heterozygote for two novel recessive point mutations in the aquaporin-2
(AQP2) gene: L22V in exon 1 and C181W in exon 3. Residue Cys181 in AQP2 is
the site for inhibition of water permeation by mercurial compounds and is
located near to the NPA motif conserved in all aquaporins. Osmotic water
permeability (Pf) in Xenopus oocytes injected with cRNA encoding C181W-AQP2
was not increased over water control, while expression of L22V cRNA
increased the Pf to approximately 60% of that for wild-type AQP2.
Co-injection of the mutant cRNAs with the wild-type cRNA did not affect the
function of the wild-type AQP2. Immunolocalization of AQP2-transfected CHO
cells showed that the C181W mutant had an endoplasmic reticulum-like
intracellular distribution, whereas L22V and wild-type AQP2 showed endosome
and plasma membrane staining. Water permeability assays showed a high Pf in
cells expressing wild-type and L22V AQP2. This study indicates that AQP2
mutations can confer partially responsive NDI.
相似文献
8.
Russell EJ; Geremia GK; Johnson CE; Huckman MS; Ramsey RG; Washburn-Bleck J; Turner DA; Norusis M 《Radiology》1987,165(3):609-617
Sixteen patients with suspected cerebral metastases were studied with magnetic resonance (MR) imaging before and after the intravenous administration of 0.1 mmol/kg of gadolinium diethylenetriaminepenta-acetic acid. The images were interpreted blindly by two neuroradiologists; all clinical, radiologic (computed tomographic and MR imaging), and pathologic data were reviewed to arrive at a final "best diagnosis," which was then compared with the prior blinded interpretations. Of seven patients found to have multiple metastases, six (86%) had at least one tumor nodule depicted by postinfusion MR imaging that was missed by one or both observers on review of preinfusion images alone. Lesions missed on preinfusion studies were usually small nodules hidden by or not detected next to regions of high-signal edema thought to be related to the adjacent tumor nodule. The authors believe that contrast enhancement improves detection of metastatic foci with MR imaging and that the findings indicate broader implications for the detection of multiple lesions from other causes. 相似文献
9.
M F Herrera I D Hay P S Wu J R Goellner J J Ryan J R Ebersold E J Bergstralh C S Grant 《World journal of surgery》1992,16(4):669-74; discussion 774-5
The latest World Health Organization International Classification defines papillary thyroid carcinoma by its "follicular cell differentiation...as well as characteristic nuclear changes". However the oxyphilic (Hürthle cell) papillary carcinoma have nuclei which generally resemble the nuclei seen in oxyphilic follicular carcinomas, and such oxyphilic papillary tumors may behave more aggressively than typical papillary cancers. To further characterize these rare tumors, we identified during a 32-year period 22 patients with oxyphilic papillary cancer and compared them with 1,084 patients with typical papillary cancers and 57 patients with oxyphilic follicular cancers treated by the Mayo surgical group during the same time period. Although typical papillary and oxyphilic papillary cancers were comparable with regards to patient age, tumor size and extent, TNM stage, and prognostic score (AGES), there were significant differences. Compared to typical papillary tumors, oxyphilic papillary cancers had fewer neck nodal metastases at primary diagnosis (5% vs 40%, p less than 0.0001), were more often DNA non-diploid (71% vs 21%, p less than 0.001), and after 10 postoperative years had higher rates of both tumor recurrence (28% vs 11%, p less than 0.0001) and cause-specific mortality (1.7% vs 4%, p less than 0.0005). In these four important respects the oxyphilic papillary cancers more resembled the oxyphilic follicular cancers. For oxyphilic follicular cancers, the frequency of initial neck nodal metastases was 7% (cf 5%); 83% of the oxyphilic follicular tumors were non-diploid (cf 71%), and at 10 years postoperatively the tumor recurrence and cause-specific mortality rates were 28% and 18%, insignificantly different from 28% and 17% seen with the oxyphilic papillary cancers.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
10.