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排序方式: 共有362条查询结果,搜索用时 31 毫秒
1.
Occurrence of the t(2;5)(p23;q35) in non-Hodgkin's lymphoma 总被引:9,自引:3,他引:6
Weisenburger DD; Gordon BG; Vose JM; Bast MA; Chan WC; Greiner TC; Anderson JR; Sanger WG 《Blood》1996,87(9):3860-3868
Primary CD30(Ki-1)-positive anaplastic large-cell lymphoma (ALCL) is considered by some to be a distinct clinicopathologic entity associated with the t(2;5) (p23;q35). However, the specificity of t(2;5) for ALCL has not been carefully studied. Therefore, we performed a detailed analysis of all cases of ALCL with abnormal cytogenetics results in the Nebraska Lymphoma Study Group registry, as well as all other cases of non-Hodgkin's lymphoma with t(2;5) in the registry. We found the t(2;5) in only five of 10 cases of ALCL, four of whom were young patients. However, we also found the t(2;5) in 11 other cases of nonanaplastic lymphoma, including eight children with typical peripheral T-cell lymphomas of various types. The t(2;5) was also found in three older adults with B-cell lymphomas of various types. Thus, the t(2;5) was not specific for CD30+ ALCL. However, t(2;5) may define a clinicopathologic entity in children and young adults characterized by variable morphologies with a T-cell or indeterminate phenotype, CD30-positivity, nodal disease with frequent extranodal involvement, advanced stage, and an excellent response to therapy, including bone marrow transplantation for relapsed disease. The clinical relevance of the t(2;5) in older patients requires further study. 相似文献
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Two fast magnetic resonance (MR) imaging techniques, advanced Fourier and partial-flip imaging, were used at 0.35 T to examine 21 patients with suspected intracranial lesions; the results were quantitatively compared with a conventional spin-echo study. Both of the fast MR techniques yielded a fourfold reduction in imaging time per section. The advanced Fourier sequence showed contrast that was identical to the conventional spin-echo study with signal-to-noise ratios of 58% and 57% for the first and second echoes, respectively. The partial-flip sequence showed a contrast of 109% and 57% for lesions versus substantia alba, and 107% and 78% for substantia grisea versus substantia alba relative to the first and second echoes of the conventional spin-echo study. The partial-flip sequence was particularly sensitive to magnetic susceptibility; this produced artifacts that may undermine the usefulness of partial flip for routine screening in certain parts of the brain. However, this susceptibility significantly improved the detection of intracranial hemorrhage when compared with the spin-echo sequence, particularly when combined with phase mapping of the partial-flip study. 相似文献
4.
Hart TC; Bowden DW; Bolyard J; Kula K; Hall K; Wright JT 《Human molecular genetics》1997,6(13):2279-2284
Tricho-dento-osseous syndrome (TDO), MIM# 190320, is transmitted as a
highly penetrant autosomal dominant trait that is characterized by variable
clinical expression. The principal clinical features include kinky/curly
hair in infancy, enamel hypoplasia, taurodontism, as well as increased
thickness and density of cranial bones. Possible genetic linkage has been
reported for TDO with the ABO blood group locus, but the gene defect
remains unknown. We have identified four multiplex families (n = 63, 39
affected, 24 unaffected) from North Carolina segregating TDO. We previously
have excluded a major locus for TDO in the ABO region for these families.
Utilizing a genome-wide search strategy, we obtained conclusive evidence
for linkage of the TDO syndrome locus to markers on chromosome 17q21
(D17S791, Z max = 10.54, Theta = 0.00) with no indication of genetic
heterogeneity. Multipoint analysis suggests the TDO locus is located in a 7
cM chromosomal segment flanked by D17S932 and D17S941. This finding
represents the first step towards isolation and cloning of the TDO gene.
Identification of this gene has important implications for understanding
normal and abnormal craniofacial development of hair, teeth and bone.
相似文献
5.
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy 总被引:2,自引:0,他引:2
Pan TC; Zhang RZ; Pericak-Vance MA; Tandan R; Fries T; Stajich JM; Viles K; Vance JM; Chu ML; Speer MC 《Human molecular genetics》1998,7(5):807-812
The Bethlem myopathy is a rare autosomal dominant proximal myopathy
characterized by early childhood onset and joint contractures. Evidence for
linkage and genetic heterogeneity has been established, with the majority
of families linked to 21q22.3 and one large family linked to 2q37,
implicating the three type VI collagen subunit genes, COL6A1 (chromosome
21), COL6A2 (chromosome 21) and COL6A3 (chromosome 2) as candidate genes.
Mutations of the invariant glycine residues in the triple-helical
domain-coding region of COL6A1 and COL6A2 have been reported previously in
the chromosome 21-linked families. We report here the identification of a
G-->A mutation in the N-terminal globular domain-coding region of COL6A3
in a large American pedigree (19 affected, 12 unaffected), leading to the
substitution of glycine by glutamic acid in the N2 motif, which is
homologous to the type A domains of the von Willebrand factor. This
mutation segregated to all affected family members, to no unaffected family
members, and was not identified in 338 unrelated Caucasian control
chromosomes. Thus mutations in either the triple-helical domain or the
globular domain of type VI collagen appear to cause Bethlem myopathy.
相似文献
6.
O Segatto C Secchi A Berrini P G Natali 《International journal of tissue reactions》1986,8(3):225-229
Splenic null cells of normal mice have been shown to undergo phenotypic induction of Thy 1.2 antigen by various thymic extracts. This experimental model has been employed in characterizing the Thy 1.2 inducing ability of an acid lysate from calf thymus and its various fractions. Incubation of splenocytes from C3H/He mice with unfractionated Thymomodulin induces a dose-response percent increase in the Thy 1.2 antigen bearing cells (9.28 +/- 2.6%, p less than 0.05). Comparable increase appears in fractions 5B (9.46 +/- 0.55%, p less than 0.001) and 5C (8.09 +/- 3%, p less than 0.005), obtained by ultrafiltration and containing peptides of m.w. 600-10,000 d and less than 600 d, respectively. The activity is confined to the acid fraction (6.61 +/- 0.54%, p less than 0.001) isolated by isoelectrofocusing. Control lysate from pig duodenal mucosa was devoid of Thy 1.2 inducing activity. The present findings indicate that Thymomodulin possesses Thy 1.2 inducing capacity on murine null cells and that such activity is maintained and enhanced after various fractionation procedures. 相似文献
7.
Claudia Tonini Marco Segatto Francesca Martino Luisa Cigliano Martina Nazzaro Laura Barberio Maurizio Mandal Valentina Pallottini 《Nutrients》2021,13(1)
Background: A major problem of aging is the disruption of metabolic homeostasis. This is particularly relevant in the brain where it provokes neurodegeneration. Caloric restriction is a physiologic intervention known to delay the deleterious consequences of aging in several species ranging from yeast to mammals. To date, most studies on experimental models have started this dietary intervention from weaning, which is very difficult to be translated to human beings. Here, we study the effects of a more realistic dietary regimen in rats, starting at an advanced age and lasting for six months. Methods: we analyzed in the cortex and hippocampus, the proteins involved in the energetic balance of the cells, cholesterol metabolism, oxidative stress response, inflammation, synaptic impairment, and brain trophism. Results: our results suggest that caloric restriction in late life can revert only some age-related changes studied here. 相似文献
8.
Claudia Tonini Marco Segatto Simona Bertoli Alessandro Leone Arianna Mazzoli Luisa Cigliano Laura Barberio Maurizio Mandal Valentina Pallottini 《Nutrients》2021,13(6)
Bisphenol A (BPA) is an organic chemical compound widely used for manufacturing plastics. BPA exposure originates principally from the diet, but it can also originate from dermal contact. In over 90% of individuals, including pregnant women, BPA is detectable in several body fluids. The effects of this exposure on the fetus are under active investigation in several research laboratories. The aim of our work was to study the impact of prenatal exposure to BPA in the liver of rat fetuses from a sex-dependent point of view. We particularly investigated the effects of prenatal BPA exposure on hepatic lipids because of their crucial role, not only for the liver, but also for the whole-body functions. Our results demonstrate that the liver of rat fetuses, in utero exposed to a very low dose of BPA (2.5 µg/kg/day), displays significant modulations with regard to proteins involved in cholesterol and fatty acid biosynthesis and trafficking. Moreover, an impact on inflammatory process has been observed. All these effects are dependent on sex, being observable only in female rat fetuses. In conclusion, this work demonstrates that maternal exposure to BPA compromises hepatic lipid metabolism in female offspring, and it also reveals the perspective impact of BPA on human health at doses currently considered safe. 相似文献
9.
Andrea D’Ambrosio Caroline Toulouse Samuel Bélanger-Marceau Simone Savary Sunita Mathur Bianca Segatto David Hartell Tania Janaudis-Ferreira 《Transplantation proceedings》2021,53(2):581-589
BackgroundThe Canadian Transplant games (“Games”) were created to increase awareness of organ donation and highlight the importance of staying active and healthy post-transplant. It is unclear what motivates solid organ transplant (SOT) recipients to participate and whether the games serve as an incentive for SOT recipients to increase their physical activity (PA) levels.Objectives1. To describe the characteristics of participants from past games and their motivation for attending and 2. to determine whether there was an interest in participating in goal-based, pre-games exercise training programs.MethodsA web-based questionnaire was sent to adult SOT recipients who were members of the Canadian Transplant Association. The survey included questions about why participants attended, their PA levels, and their interest in a pre-games training program.ResultsOf the 157 participants, more were male than female; the 35-54-year-old age group was the most common; and 62% of respondents received a liver or kidney transplant. The most common reasons for participating in the games were to showcase health post-transplant, promote awareness of organ donation, sports competition, and social reasons. Sixty-five percent of respondents reported that they would be interested in an exercise program to be more physically prepared for the competition.ConclusionPre-games training programs could be developed to motivate participation and help participants achieve higher training intensities and foster social interaction. Directing resources to individuals who do not attend the games and to those who are not physically active should be considered. 相似文献
10.