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61.
Legoff J Amiel C Calisonni O Fromentin D Rajoely B Abuaf N Tartour E Rozenbaum W Bélec L Nicolas JC 《Journal of clinical immunology》2004,24(2):125-134
Immunodeficiency related to HIV may increase the incidence of EBV-associated lymphomas, by altering EBV-specific immune control and consequently favoring EBV reactivation. The aim of the present study was to assess the relationship between the decrease of EBV-specific cellular immunity and the increase of EBV reactivation in a prospective cohort of 72 unselected HIV-infected individuals. EBV-specific immunity was evaluated by a highly sensitive IFN-gamma ELISPOT assay using 22 peptides mimicking latent and lytic antigens, and circulating mononuclear (PBMC) EBV DNA load was quantified by real-time quantitative PCR. The mean circulating cell-associated EBV DNA load was higher in HIV-infected patients (639 copies/10(6) PBMC) than in healthy controls (21, n = 14) ( P = 0.005) and was higher in patients with CD4(+) T-cell count below 350/microL than that in patients harboring higher CD4(+) T-cell count (1112 vs. 389, P = 0.003). The mean intensity of EBV-specific cellular responses was lower in HIV-infected patients than in controls ( P = 0.001), even in patients with CD4(+) T-cell count above 350/-microL ( P = 0.007). The number of EBV peptides recognized was lower in HIV-infected patients than in controls (frequency: 0.44 vs. 0.67; P = 0.02), indicating reduced polyclonality in HIV-infected patients. The polyclonality was 1.5-fold lower in HIV-infected patients with CD4(+) T-cell count below 350/-microL ( P =0.007). For EBV load >1000 copies/10(6) PBMC, the levels of cell-associated EBV DNA and those of EBV-specific cellular immunity, either in intensity or in polyclonality, or both, were inversely correlated. These findings demonstrate early impairment of the EBV-specific cellular immune control with progressive increase of EBV reactivation in the course of HIV infection. These observations likely provide a basis for appreciating the risk to develop non-Hodgkin's lymphomas in HIV-infected individuals. 相似文献
62.
Pattyn A Simplicio N van Doorninck JH Goridis C Guillemot F Brunet JF 《Nature neuroscience》2004,7(6):589-595
63.
Chassaing N Siani V Carles D Delezoide AL Alberti EM Battin J Chateil JF Gilbert-Dussardier B Coupry I Arveiler B Saura R Lacombe D 《American journal of medical genetics. Part A》2005,(4):307-312
We describe a family with an X-linked dominant chondrodysplasia. Four males and six females were affected through four generations. Identification of skeletal abnormalities and hydrocephaly during the pregnancy of three male fetuses led to termination of the pregnancies. A fourth affected male died at 6 days of life. The four patients had chondrodysplasia, hydrocephaly, and facial features with microphthalmia. Radiographs showed severe platyspondyly and various bone abnormalities including a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. The affected females were less affected and showed small stature, sometimes associated with body asymmetry and mild mental retardation. This condition appears to be a previously unrecognized X-linked dominant chondrodysplasia. 相似文献
64.
Analysis of microdissected prostate tissue with ProteinChip arrays--a way to new insights into carcinogenesis and to diagnostic tools 总被引:9,自引:0,他引:9
Wellmann A Wollscheid V Lu H Ma ZL Albers P Schütze K Rohde V Behrens P Dreschers S Ko Y Wernert N 《International journal of molecular medicine》2002,9(4):341-347
Prostate carcinomas are one of the most common malignancies in western societies. The pathogenesis of this tumor is still poorly understood. These tumors present with two characteristic features: epithelial-mesenchymal interactions, which play a pivotal role for tumor development and most of clinically manifest cancers arise in prostate proper compared to a minority of tumors which develop in the transitional zone. Deciphering the epithelial-mesenchymal cross talk and identification of molecular pecularities of the sub-populations of cells in different zones can therefore help understanding carcinogenesis and development of new, non-invasive tools for the diagnosis and prognosis of prostate carcinomas which has remained a challenge until today. A ProteinChip array technology (SELDI = surface enhanced laser desorption ionization) has been developed recently by Ciphergen Biosystems enabling analysis and profiling of complex protein mixtures from a few cells. This study describes the analysis of approximately 500-1000 freshly obtained prostate cells by SELDI-TOF-MS (surface enhanced laser desorption ionization time-of-flight mass spectrometry). Pure cell populations of stroma, epithelium and tumor cells were selected by laser assisted microdissection. Multiple specific protein patterns were reproducibly detected in the range from 1.5 to 30 kDa in 28 sub-populations of 4 tumorous prostates and 1 control. A specific 4.3 kDa peak was increased in the prostate tumor stroma compared to normal prostate proper and transitional zone stroma and increased in prostate tumor glands compared to normal prostate proper and transitional zone glands. Coupling laser assisted microdissection with SELDI provides tremendous opportunities to identify cell and tumor specific proteins to understand molecular events underlying prostate carcinoma development. It underlines the vast potential of this technology to better understand pathogenesis and identify potential candidates for new specific biomarkers in general which could help to screen for and distinguish disease entities, i.e. between clinically significant and insignificant carcinomas of the prostate. 相似文献
65.
Hypothalamic neuropeptide Y (NPY) in obese Zucker rats: implications in feeding and sexual behaviors 总被引:4,自引:0,他引:4
Neuropeptide Y (NPY), a peptide of the pancreatic polypeptide family, is actually considered to be the most potent stimulator of food intake in rats when centrally injected. It has also suppressive effects on several components of sexual behavior. It was measured in discrete microdissected brain nuclei in obese hyperphagic Zucker fa/fa rats also characterized by a deficient reproductive function, as well as in their lean homozygous (Fa/Fa) and heterozygous (Fa/fa) counterparts. When compared with the lean (Fa/Fa) rats, NPY concentrations were significantly increased in the obese rats in the arcuate nucleus-median eminence (ARCME, +300%), in the paraventricular (PVN, +60%), suprachiasmatic (SCH, +90%), accumbens (+100%) and supraoptic (+40%) nuclei, as well as in the median preoptic area (MPOA, +70%). As PVN is one of the most important nuclei involved in the control of food intake and one site of NPY action, the high levels found in this nucleus might be a major component at the origin of hyperphagia in the obese animals. Food intake might be overstimulated by a sustained production of NPY as shown by the high concentrations found in the ARCME. NPY might also intervene in the pattern of food intake, for NPY contents were also largely modified in the SCH, the nucleus regulating feeding periodicity and in the MPOA, which is possibly involved in the regulation of energy balance. Finally, as the MPOA is the only site of action of NPY on sexual behavior, the higher levels measured in this area might contribute to the defective reproductive function of the obese Zucker fa/fa rat. 相似文献
66.
Jean-Franois Rual Tomoko Hirozane-Kishikawa Tong Hao Nicolas Bertin Siming Li Amlie Dricot Ning Li Jennifer Rosenberg Philippe Lamesch Pierre-Olivier Vidalain Tracey R. Clingingsmith James L. Hartley Dominic Esposito David Cheo Troy Moore Blake Simmons Reynaldo Sequerra Stephanie Bosak Lynn Doucette-Stamm Christian Le Peuch Jean Vandenhaute Michael E. Cusick Joanna S. Albala David E. Hill Marc Vidal 《Genome research》2004,14(10B):2128-2135
The advent of systems biology necessitates the cloning of nearly entire sets of protein-encoding open reading frames (ORFs), or ORFeomes, to allow functional studies of the corresponding proteomes. Here, we describe the generation of a first version of the human ORFeome using a newly improved Gateway recombinational cloning approach. Using the Mammalian Gene Collection (MGC) resource as a starting point, we report the successful cloning of 8076 human ORFs, representing at least 7263 human genes, as mini-pools of PCR-amplified products. These were assembled into the human ORFeome version 1.1 (hORFeome v1.1) collection. After assessing the overall quality of this version, we describe the use of hORFeome v1.1 for heterologous protein expression in two different expression systems at proteome scale. The hORFeome v1.1 represents a central resource for the cloning of large sets of human ORFs in various settings for functional proteomics of many types, and will serve as the foundation for subsequent improved versions of the human ORFeome. 相似文献
67.
Youssef N Carbonell N Bonte H Serfaty L Poupon R Fléjou JF 《Annales de pathologie》2004,24(3):256-258
Dieulafoy's ulcer is a particular form of gastric ulcer confined to a persistent caliber artery and may lead to severe hemorrhage. We report a case of fatal gastric bleeding in a woman with benign biclonal gammapathy. Autopsy found a typical Dieulafoy's ulcer centered by a persistent caliber artery which wall was thickened by AL-amyloid deposits. Amyloidosis involved the gastric wall, but also middle caliber arteries of the liver, the lung, the pancreas, the kidney and the myocardium. AL-amyloidosis is a rare and late complication of monoclonal gammapathy and may be asymptomatic. Pathogenesis of Dieulafoy's ulcer remains unclear. In our case, local ischemia may have facilitated gastric ulceration, and amyloid deposits may have contributed to arterial rupture. 相似文献
68.
Enteropathogenic Escherichia coli strains carrying genes encoding the PER-2 and TEM-116 extended-spectrum beta-lactamases isolated from children with diarrhea in Uruguay 总被引:2,自引:0,他引:2
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Vignoli R Varela G Mota MI Cordeiro NF Power P Ingold E Gadea P Sirok A Schelotto F Ayala JA Gutkind G 《Journal of clinical microbiology》2005,43(6):2940-2943
We studied 13 extended-spectrum beta-lactamase (ESBL)-producing enteropathogenic Escherichia coli isolates from children suffering acute diarrhea in Uruguay. ESBL characterization in crude extracts showed a single band at pI 5.4. PCR amplification and sequencing data allowed identification of blaPER-2 and blaTEM-116. Retrospective analysis suggests that these strains were disseminated in the community, even if unnoticed, prior to their access to the hospital environment more than a decade ago. 相似文献
69.
DFNA54, a third locus for low-frequency hearing loss 总被引:1,自引:0,他引:1
Gürtler N Kim Y Mhatre A Schlegel C Mathis A Lalwani AK 《Journal of molecular medicine (Berlin, Germany)》2004,82(11):775-780
Nonsyndromic hereditary hearing impairment (NSHHI) is a highly heterogeneous disorder with more than 90 loci mapped, of which nearly one-half of the responsible genes are identified. In dominant NSSHI hearing loss is typically biased towards the high frequencies while low-frequency hearing loss is unusual. Only two NSHHI loci, DFNA1 and DFNA6/14/38, are associated with predominantly low- frequency loss. We mapped the loci harboring the gene responsible for autosomal dominant low-frequency hearing loss in a multigenerational family. The pedigree of a Swiss family with low-frequency hearing loss was established. Using genomic DNA, DFNA1 and DFNA6/14/38 were excluded by linkage analysis or by direct sequencing of the responsible gene. Genome-wide linkage analysis was performed using commercially available microsatellite markers. Two-point linkage analysis demonstrated linkage to chromosome 5q31, the locus for DFNA15, with a lod score of 6.32 at recombination fraction =0 for marker D5S436. Critical recombinations were seen at markers D5S1972 and D5S410. Sequencing of the corresponding gene POU4F3 yielded no pathogenic mutation segregating with the affected members. In addition to Wolfram syndrome gene 1 (DFNA6/14/38) and diaphanous (DFNA1) there is evidence for a third gene involved in low-frequency hearing loss located at DFNA15. Because of the differences in auditory phenotype and the absence of pathogenic mutation in the coding region of POU4F3 it is likely that there is a second gene in 5q31, designated DFNA54, associated with NSHHI. 相似文献
70.
Foulet-Rogé A Josselin N Guyetant S Gardet JJ Besancon A Saint-André JP Fabiani B 《Endocrine pathology》2002,13(3):227-233
We report a case of a 42-yr-old woman with Langerhans cell histiocytosis (LCH) confined to the thyroid and associated with
lymphocytic thyroiditis and a papillary microcarcinoma. This patient remains free of symptoms 14 mo after surgery. Thyroid
LCH is rare. In children, it usually occurs as part of a multisystemic disease, whereas it is usually exclusive in adults.
Isolated thyroid LCH is frequently associated with another thyroid disease, especially lymphocytic thyroiditis, suggesting
that it is a reactive process rather than a neoplastic proliferation. The prognosis of isolated thyroid LCH is good. However,
because it can rarely precede or reveal a multisystemic disease, additional investigations as well as a prolonged follow-up
are justified. 相似文献