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排序方式: 共有409条查询结果,搜索用时 15 毫秒
1.
Hillmann JS; Mesgarzadeh M; Revesz G; Bonakdarpour A; Clancy M; Betz RR 《Radiology》1987,165(3):769-773
Proximal femoral focal deficiency, an uncommon congenital anomaly, necessitates early radiologic classification for surgical planning and treatment. Objective radiographic criteria, including femoral length index, acetabular depth index, acetabular angle index, and shape of the proximal femur were determined in 49 patients before cartilaginous ossification of the femoral capital epiphysis; final classification was based on follow-up radiographs or findings at arthrography or surgery. These parameters were analyzed to determine the accuracy and contributions of each in classification. Correct classification into one of three groups was possible in 86% of cases with use of three of the parameters: femoral length index, acetabular depth index, and shape of the proximal femur. The acetabular angle was found to contribute insignificantly to classification. Magnetic resonance imaging, used in only one case, depicted the nonossified cartilaginous femoral capital epiphysis, thus obviating the need for invasive diagnostic procedures and facilitating early classification. 相似文献
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6.
Life expectancy in British Marfan syndrome populations 总被引:2,自引:0,他引:2
JR Gray AB Bridges RR West L. McLeish AG Stuart JCS Dean MEM Porteous M. Boxer SJ Davies 《Clinical genetics》1998,54(2):124-128
A total of 206 patients with Marfan syndrome were ascertained throughout genetic clinics in Wales and Scotland during the period 1970–1990. There were 45 deaths representing 22% of the cohort. Mean age at death was 45.3 ± 16.5 years. 50% median cumulative survival in the total cohort (n = 206) was 53 years for males and 72 years for females. Multivariate analysis confirmed severity as the best independent indicator of survival. These findings and survival curves will assist in the counselling of British families and individuals with Marfan syndrome. 相似文献
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Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases 总被引:5,自引:5,他引:5
The expansion of trinucleotide repeat sequences is associated with several
neurodegenerative diseases. The mechanism of this expansion is unknown but
may involve slipped-strand structures where adjacent rather than perfect
complementary sequences of a trinucleotide repeat become paired. Here, we
have studied the interaction of the human mismatch repair protein MSH2 with
slipped-strand structures formed from a triplet repeat sequence in order to
address the possible role of MSH2 in trinucleotide expansion. Genomic
clones of the myotonic dystrophy locus containing disease-relevant lengths
of (CTG)n x (CAG)n triplet repeats were examined. We have constructed two
types of slipped-strand structures by annealing complementary strands of
DNA containing: (i) equal numbers of trinucleotide repeats (homoduplex
slipped structures or S-DNA) or (ii) different numbers of repeats
(heteroduplex slipped intermediates or SI-DNA). SI-DNAs having an excess of
either CTG or CAG repeats were structurally distinct and could be separated
electrophoretically and studied individually. Using a band-shift assay, the
MSH2 was shown to bind to both S-DNA and SI-DNA in a structure- specific
manner. The affinity of MSH2 increased with the length of the repeat
sequence. Furthermore, MSH2 bound preferentially to looped-out CAG repeat
sequences, implicating a strand asymmetry in MSH2 recognition. Our results
are consistent with the idea that MSH2 may participate in trinucleotide
repeat expansion via its role in repair and/or recombination.
相似文献
9.
The role of IL-10 in the regulation of ocular autoimmune disease was
studied in experimental autoimmune uveoretinitis (EAU) elicited in mice by
immunization with the retinal antigen interphotoreceptor retinoid binding
protein. IL-10-deficient mice were susceptible to EAU, indicating that
pathogenesis can occur without presence of IL-10. Treatment of normal mice
with IL-10 for 5 days after uveitogenic immunization ameliorated subsequent
EAU scores, and down-regulated antigen-specific production of tumor
necrosis factor-alpha and IFN- gamma. A concomitant treatment with IL-4
further reduced disease, and resulted in emergence of antigen-specific IL-4
and IL-10 production, as well as in enhancement of the IgG1 antibody
isotype. IL-4 by itself was not protective. Only IL-10, but not IL-4, was
able to inhibit the function of differentiated uveitogenic T cells in
culture. Expression of mRNA for Th1 and Th2 cytokines in the eye during the
course of EAU showed that while a Th1 pattern predominated early, IL-10
mRNA expression coincided with down-regulation of the Th1 response and
resolution of EAU. Systemic neutralization of IL-10 during the expression
phase of EAU resulted in elevated disease scores. Our results suggest that
endogenous IL-10 limits expression of EAU and may play a role in the
natural resolution of disease. The data further suggest that exogenous
IL-10 may be useful in therapeutic control of autoimmune uveitis. While
IL-10 by itself is sufficient to suppress Th1 effector development and
function, a concomitant administration of IL-4 is required to shift the
autoimmune response towards a non-pathogenic Th2 pathway.
相似文献
10.
H L Swanson R R Dubielzig E Bentley C J Murphy 《Journal of comparative pathology》2001,125(4):326-330
An 8-week-old springer spaniel presented with a large central corneal opacity of the left globe, which was accompanied by cords of tissue spanning from the iris collarette to the posterior cornea. A posterior cortical cataract was noted in the right eye. At the owner's request the puppy was humanely destroyed, and a necropsy was performed. Upon sectioning the left globe in the vertical plane, a circle of pigmented strands of tissue was observed spanning the anterior chamber from the iris to the posterior aspect of the cornea. The right globe appeared normal when inspected grossly. Histologically, a membrane of pigmented tissue covered the posterior aspect of the broad central corneal leukoma of the left globe. This membrane and the cords traversing the anterior chamber were composed of vascular uveal tissue. Descemet's membrane and the corneal endothelium were reduced or absent in the zone of corneal opacity. Other than the changes associated with cataract, the right globe was histologically normal. The clinical and histological findings in the left globe were identical with those described for Peters> anomaly in human beings. 相似文献