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41.
Florence Jobard Caroline Lefèvre Aysen Karaduman Claudine Blanchet-Bardon Serap Emre Jean Weissenbach Meral Ozgüc Mark Lathrop Jean-Fran?ois Prud'homme Judith Fischer 《Human molecular genetics》2002,11(1):107-113
We report the identification of mutations in lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) genes in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17. Linkage disequilibrium analysis of six families affected by NCIE permitted us to reduce a recently reported interval of 8.4 cM on chromosome 17p13.1 to a 600 kb region around the marker D17S1796, which contains LOX genes. LOX products have long been implicated in skin disorders. Two point mutations and one deletion were found in ALOXE3 and three point mutations were found in ALOX12B in these consanguineous families from the Mediterranean basin. ALOXE3 and ALOX12B are two genes which are physically linked and functionally related. They are separated by 38 kb, have one more exon than the other LOX genes and are mainly expressed in epithelial cells including keratinocytes. Although the main substrate(s) of the two enzymes is (are) still unknown, the products of ALOX12B obtained in experimental systems have been demonstrated to be of R-chirality. It seems likely that the product of one of these enzymes may be the substrate of the other, and that they belong to the same metabolic pathway. 相似文献
42.
Monosomy 9q and trisomy 16q in a case of congenital solitary infantile myofibromatosis 总被引:1,自引:0,他引:1
Sirvent N Perrin C Lacour JP Maire G Attias R Pedeutour F 《Virchows Archiv : an international journal of pathology》2004,445(5):537-540
Although infantile myofibromatosis (IM) is the most common fibrous proliferation of infancy, many aspects of this benign lesion have not been explored. IM histogenesis is still poorly understood, despite immunohistochemical staining and ultrastructural features that suggest a myofibroblastic origin. IM diagnosis is often made difficult by the predominance of small primitive spindle cells over myofibrobasts and the presence of intravascular growth. Genetic information is scarce, with only one karyotyped case. Here we describe a case of solitary IM discovered at birth in an otherwise healthy girl. The tumor was well circumscribed, arranged in nodules and made up of ovoid cells without atypia, in a myxoid background. Immunohistochemical evaluation indicated a myofibroblastic differentiation. The cytogenetic and fluorescence in situ hybridization analyses revealed an abnormal chromosome 9, derived from an unbalanced whole-arm translocation between chromosomes 9 and 16. On both chromosomes, the breakpoints were located in the pericentric heterochromatic region. This clonal abnormality has not been reported in other tumors and is different from the chromosome 6q deletion reported in the single previous reported IM karyotype. 相似文献
43.
Molina TJ Delmer A Cymbalista F Le Tourneau A Perrot JY Ramond S Marie JP Audouin J Zittoun R Diebold J 《Virchows Archiv : an international journal of pathology》2000,437(6):591-598
Mantle cell lymphoma (MCL) is a well-defined peripheral B-cell lymphoma usually diagnosed upon peripheral lymph node biopsy. We report eight cases of peripheral B-cell leukaemia that demonstrate presumptive evidence of mantle cell characteristics. The patients had a median age of 68.5 years, and five were male. All presented with an enlarged spleen without any peripheral lymphadenopathies, and they were leukaemic at presentation (median lymphocytosis, 38x10(9)/l). Morphological diagnosis of MCL was very difficult in five cases but easier in three because we were able to analyse either pre- or post-mortem lymph nodes and spleen. The immunophenotype of blood lymphocytosis using flow cytometry, the presence of a t(11;14)(q13;q32) and a cyclin D1 expression by leukaemic cells all fit with the diagnosis of MCL. All patients progressed and died with a median overall survival of 8 months. Multifocal areas of transformation in blastoid or large cell variants were observed in the three autopsied patients. In summary, one should consider the diagnosis of MCL at presentation in leukaemic phase even in the absence of peripheral adenopathies. 相似文献
44.
Claude Penit Bruno Lucas Florence Vasseur Theresa Rieker Richard L. Boyd 《Clinical & developmental immunology》1996,5(1):25-36
The development of thymocyte subsets and of the thymic epithelium in SCID and RAG-2-/– mice was monitored after normal bone-marrow-cell transfer. The kinetics of thymic
reconstitution and their relationships with cell proliferation were investigated by using
bromodeoxyuridine to detect DNA-synthesizing cells among lymphoid cells by 3-color
flow cytometry, and in epithelial compartments by staining frozen sections. Thymocytes
started to express CD8 and CD4 10 days after transfer, simultaneously with extensive proliferation.
The first mature CD4+ single-positive cells were generated, from resting CD4+CD8+
cells after day 15. During this day 10–15 period, many epithelial cells positive for cortexspecific
or panepithelial markers were labeled with BrdUrd after pulse-injection. Organized
medullary epithelium also developed after day,15, that is, synchronously with the
appearance of mature thymocytes, but medullary cells were never found BrdUrd+. These
results suggest that, in these models, the reconstitution of the thymic epithelial network
proceeds through expansion of preexisting cortical or undifferentiated cells and by later
maturation (acquisition of specific markers) of medullary cells. This last process is dependent
of the presence of mature thymocytes. 相似文献
45.
Florence Rothenberg Michiko Watanabe Benjamin Eloff David Rosenbaum 《Developmental dynamics》2005,233(2):456-465
Major difficulties investigating the developing cardiac conduction system stem from that the embryonic heart is extremely small (< 2 mm) and cardiac activation is relatively rapid (< 8 msec). The objective of this study was to investigate the electrophysiology of the embryonic chick cardiac conduction system at periseptation stages with a photodiode array-based detection method of optical mapping capable of high spatial and temporal resolution. Previous work indicated that, in chicken embryos, a switch occurs in ventricular activation pattern from immature base-to-apex to mature apex-to-base pattern at the time of ventricular septation. It was our aim to map activation in more detail to identify the active pathway or pathways of atrioventricular conduction at these particular stages. Analysis of preseptated hearts (n = 10) showed that the latest atrial activation took place just above the site of the earliest ventricular activation at the ventral left ventricular base. Analysis of postseptated hearts (n = 11) showed apex-to-base conduction consistent with activation through the maturing His-Purkinje system. Evaluation of hearts during septation revealed a gradual transition of ventricular activation patterns rather than an abrupt "switch." External pacing of preseptated hearts revealed significant slowing of interventricular conduction compared with spontaneous beats (spontaneous, 61.7 cm/sec +/- 9 cm/sec vs. paced, 36.5 cm/sec +/- 10 cm/sec). The more detailed mapping revealed that, before septation, the pattern of activation of the ventricular myocardium is consistent with direct atrial-ventricular myocardial connections at the left lateral atrioventricular junction; however, functional evidence for a preferential conduction pathway within the ventricles was present before septation. 相似文献
46.
Hepatitis E in the south west of France in individuals who have never visited an endemic area 总被引:13,自引:0,他引:13
Mansuy JM Peron JM Abravanel F Poirson H Dubois M Miedouge M Vischi F Alric L Vinel JP Izopet J 《Journal of medical virology》2004,74(3):419-424
A total of 431 consecutive patients from the Midi Pyrenees area with acute hepatitis with unknown etiology in 2001-2002 were tested for the presence of immunoglobulin G-class (IgG) anti-hepatitis E virus (HEV) antibodies. Forty-six (10.7%) had anti-HEV IgG, and the results were questionable for a further 17 (3.9%). Real time PCR based on TaqMan detection was used to identify HEV genome fragments in the serum of patients with positive or questionable anti-HEV serology. HEV RNA was found in 25.4% of cases. All amplification products were sequenced and analyzed. Phylogenetic analysis revealed that all the strains were genotype 3. In conclusion, virological and epidemiological data indicate that genotype 3 viruses are circulating in the south west part of France (Midi-Pyrenees) in patients with acute hepatitis and who have not visited recently areas in which HEV is endemic. 相似文献
47.
Miellot A Zhu R Diem S Boissier MC Herbelin A Bessis N 《European journal of immunology》2005,35(12):3704-3713
Invariant natural killer T (iNKT) cells are a unique lymphocyte subtype implicated in the regulation of autoimmunity and a good source of protective Th2 cytokines. Agonist alpha-galactosylceramide (alpha-GalCer) of iNKT cells exert a therapeutical effect in type 1 diabetes. We investigated whether iNKT activation with alpha-GalCer was protective in collagen-induced arthritis (CIA) in DBA/1 mice, a standard model of rheumatoid arthritis. Here, we have shown that in vivo iNKT cell function was altered in DBA/1 mice since stimulation with alpha-GalCer led to decreased IL-4 and IFN-gamma levels in sera, as compared with C57BL/6 mice. alpha-GalCer induced a clear-cut diminution of clinical and histological arthritides. An anti-IL-10 receptor antibody abrogated the protective effect of alpha-GalCer, suggesting a key role for IL-10 in the protection against CIA by activated iNKT cells. Confirming these data, disease protection conferred by alpha-GalCer correlated with the ability of LN CD4+ cells to secrete larger amounts of IL-10. These findings suggest that in CIA susceptibility to autoimmunity is associated with dysfunctions of iNKT cells. Our demonstration that iNKT cell activation by alpha-GalCer remains efficient in CIA-prone DBA/1 mice to provide protective IL-10 suggests that this could be used therapeutically to treat autoimmune arthritis. 相似文献
48.
49.
Florence Pasquier Didier Leys Henri Petit 《Cephalalgia : an international journal of headache》1987,7(3):169-170
The patient reported had had a continuous headache involving the whole skull for 7 years. Many drugs had failed to relieve the pain, but with indomethacin the headache completely disappeared within 3 days. Nine months later the treatment was discontinued without any relapse. This variety of headache, not previously reported, was quite similar to the "hemicrania continua" except for its localization. 相似文献
50.
The toxicity of copper to the adult and early life stages of the freshwater clam,Corbicula manilensis 总被引:1,自引:0,他引:1
Florence L. Harrison John P. Knezovich David W. Rice Jr. 《Archives of environmental contamination and toxicology》1984,13(1):85-92
The copper sensitivity of adult and larval stages of the freshwater clamCorbicula manilensis was evaluated. In addition, copper concentrations were determined in adult clams exposed for 4 to 10 weeks to copper in a high-volume, flow-through bioassay. All bioassay systems utilized water that was low in total hardness and alkalinity.The response of the clams to copper depended on life stage. Copper sensitivity of larvae decreased markedly in successive developmental stages. LC5024's of veliger and juvenile larvae were 28 and 600 g Cu/L, respectively. The mortality of trochophore larvae exposed to 10 g Cu/L for one hr was 91.5%. The sensitivity to copper decreased with increased amounts of larval shell deposition.Adult clams were resistant to copper; the LC5096 was greater than 2,600 g Cu/L. By comparison, the incipient lethal concentration (ILC, was lowless than 10 g Cu/L. Adult clams accumulated more copper as concentrations in the water increased. Evidence was obtained for copper loss near or at death.Labile and total copper, as well as the coppercomplexing capacity, in the bioassay water were determined; the majority of copper was present as labile species. Toxicity was related to the quantities of labile copper in the water.This work was supported by the U.S. Nuclear Regulatory Commission (Memorandum of Understanding with the U.S. Department of Energy) and by the U.S. Department of Energy (contract number W-7405-ENG-48). 相似文献