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31.
Dominique Bonneau Isabelle Winter-Fuseau Marie-No?lle Loiseau Patrizia Amati Michel Berthier Denis Oriot Carole Beaumont 《Journal of medical genetics》1995,32(10):778-779
This paper reports the cosegregation in a three generation pedigree of dominantly inherited cataract with an abnormally high level of serum ferritin. In this family, circulating L ferritin was raised in all subjects affected by cataract independently of iron overload. We suggest that a disorder of ferritin metabolism could be a new genetic disorder leading to lens opacity. Cataract-hyperferritaemia syndrome could also be a new contiguous gene syndrome involving the L ferritin gene and the gene coding for the lens membrane protein (MP19), which both map to the same region of chromosome 19q. 相似文献
32.
Coexpression of Aspartic Proteinases and Human Leukocyte Antigen-DR in Human Transplanted Lung
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Eloisa Arbustini Patrizia Morbini Marta Diegoli Maurizia Grasso Roberta Fasani Patrizio Vitulo Roberto Fiocca Paolo Cremaschi Gino Volpato Luigi Martinelli Mario Vigan I Michael Samloff Enrico Solcia 《The American journal of pathology》1994,145(2):310-321
Aspartic proteinases have recently been shown to be implicated in antigen processing. We explored the expression of two aspartic proteinases, cathepsins E and D, and of human leukocyte antigen-DR (HLA-DR) molecules in a consecutive series of 80 transbronchial biopsies from transplanted lungs. For controls, we studied five normal donor lungs (not suitable for transplantation on account of thoracic trauma) and macroscopically normal areas of three cancer-affected lungs. Two of the five unsuitable donor lungs showed minimal inflammatory changes. Macroscopically normal samples from the three cancerous lungs showed mild and focal inflammatory infiltrates. In histologically normal lungs, HLA-DR expression was limited to professional antigenpresenting cells. Macroscopically normal lung samples with minimal inflammatory changes from both donor and cancer lungs showed variable HLA-DR expression by alveolar and bronchial epithelial cells and by endothelial cells. All transplanted lung biopsies showed HLA-DR expression by epithelial (alveolar and bronchial) and endothelial cells, with a trend for increased positivity in acute rejection. Cathepsin E was restricted to Clara and to rare bronchus-associated lymphoid tissue-related epithelial cells in histologically normal lung samples, whereas minimal de novo cathepsin E expression by rare alveolar pneumocytes was noted in control lung samples exhibiting minimal inflammatory changes. In all transplanted lung biopsies, cathepsin E was diffusely expressed de novo by hyperplastic alveolar epithelial cells, regardless of the presence or degree of rejection. Cathepsin D was expressed only by alveolar macrophages and by ciliated bronchial cells of normal, minimally inflamed, and transplanted lungs. In transplanted lung, Clara cells and several hyperplastic alveolar pneumocytes coexpressed HLA-DR and cathepsin E, whereas all alveolar macrophages and a few ciliated cells coexpressed cathepsin D and HLA-DR The present investigation suggests that the de novo expression of cathepsin E and HLA-DR by hyperplastic alveolar pneumocytes of transplanted lung may be crucial for antigen processing and presentation to recipient competent T cells, and thus for the triggering of the immune-inflammatory cascade that leads to rejection. 相似文献
33.
Patrizia Nanni Carla De Giovanni Pier-Luigi Lollini Giordano Nicoletti Giorgio Prodi 《Clinical & experimental metastasis》1983,1(4):373-380
A metastasizing mouse cell line (TS/A), originated from a mammary adenocarcinoma which arose spontaneously in a BALB/c female retired breeder, has been established in vitro. It displayed a remarkable morphologic heterogeneity, which is evident in plastic adherent cultures (cell types ranging from epithelial-like to fibroblast-like) as well as in semi-solid agar cultures. The TS/A line exhibited the presence of specific cytoplasmic estradiol receptor, with a binding activity of 16 fmoles/mg cytosol protein. The in vivo growth pattern was as follows: (1) a s.c. inoculum of 105 cells caused a 100 per cent tumor take and kill in syngeneic animals; mean survival time was 54 + 1 days; (2) it did not show significant transplant immunogenicity in syngeneic animals; (3) it was able to give rise to both spontaneous lung metastases and artificial lung colonies; (4) it had a high capacity to grow in H-2 matched, minor histocompatibility antigen incompatible hosts (106 cells killed 100 per cent DBA/2 mice in 58 + 2 days). This line of spontaneous mammary tumor cells is proposed as a useful model for studies on the heterogeneity of the neoplastic population in relation to metastatic spread, on tumor immunogenicity, and on therapy of mammary neoplasia. 相似文献
34.
Rafaella Barbieri Anna Paola Rimondi Daniele Buzzoni Leone Luppi Claudio Nastruzzi Patrizia Orlando Dr Roberto Gambari 《Clinical & experimental metastasis》1989,7(4):417-426
The methylation pattern of the human HLA-DR gene was analyzed in normal breast tissues, breast primary tumors and lymphonodal metastases isolated from patients carrying breast carcinomas. In breast adenomas and also in normal tissues (including breast, muscle, brain, sperm and T- and B-lymphocytes), the HLA-DR gene is hypermethylated at the CCGG and GCGC sites. In all tissues studied, the only constantly unmethylated region is located in the 5 portion of the gene, near the promoter sequence. Further, the results indicate that the HLA-DR gene is hypomethylated in carcinomas and in the relative metastatic lymph nodes. It is suggested that hypomethylation of the human HLA-DR gene could be proposed as a molecular marker of malignant breast tumors. 相似文献
35.
36.
Calogero Caruso Patrizia Palmeri Lorenzo Oliva Ambrogio Orlando Mario Cottone 《Tissue antigens》1985,25(1):47-49
HLA antigens were investigated in 41 Sicilian patients with ulcerative colitis and in 151 healthy controls. Frequencies of HLA-B5 and DR2 were increased in the group of patients with ulcerative colitis whereas the DR3 antigen frequency was decreased. However the corrected p values were not significant. Thus, present results indicate that in ulcerative colitis HLA linked genetic factors play a marginal role, if any. 相似文献
37.
Ciaroni S Cecchini T Ferri P Cuppini R Ambrogini P Santi S Benedetti S Del Grande P Papa S 《Neuroscience research》2002,44(4):369-377
The adult hippocampal neurogenesis is affected by vitamin E deficiency. In the present investigation we examined if neural precursor proliferation, newborn cell survival or both are altered by vitamin E deficiency. 5-Bromo-2'-deoxyuridine (BrdU) was employed as a marker of proliferating cells. BrdU-labelled cells were revealed 1 and 30 days after BrdU administration in order to evaluate proliferation and newborn cell survival, respectively. Cell proliferation decreased in controls from juvenile to adult age, and the decrease was lesser in vitamin E deficiency. Thus we found a higher number of proliferating cells in vitamin E-deficient rats than in age-matched controls at 5 months of age. Comparing the number of BrdU-positive cells between 1 and 30 days after the last BrdU injection revealed a remarkable decrease in all groups; this is the greatest in vitamin E-deficient rats and the lowest in control rats. Consistently cell death in the dentate gyrus, assessed by TUNEL technique, was found to decrease from 1 to 5 months of age, but at 5 months it was significantly higher in vitamin E-deficient rats than in age-matched controls. These data show that vitamin E deficiency enhances neural precursor proliferation and cell death during adult neurogenesis. 相似文献
38.
The macrolide-lincosamide-streptogramin B (MLSB) resistance determinants have been detected among Clostridia in both C. perfringens and C. difficile strains. Previous studies have shown that MLSB-resistant C. difficile strains can be differentiated by specific hybridizing bands using an erm(B) probe. A recent study has demonstrated that C. difficile 630, a strain highly resistant to clindamycin and erythromycin (MIC > or = 256 ml/L), showing a hybridizing band at 9.7 kb, contains two copies of an erm(B) gene. It was also hypothesized that C. difficile 630 erm(B) determinant has arisen from a progenitor, represented by the C. perfringens CP592 determinant, which contains only one copy of an erm(B) gene that differs from C. difficile 630 erm(B) for seven nucleotide substitutions. To investigate the possibility that C. difficile strains with hybridizing fragments of different molecular size have an erm(B) determinant not identical to the one described in C. difficile 630, we performed a genetic analysis on the erm(B) determinant in 18 C. difficile strains, isolated from different sources. The results showed a heterogeneity in erm(B) determinant: C. difficile strains with hybridizing bands at 7.3 or 3.7 kb contained only one erm(B) copy, whereas strains with a band at 9.7 kb had two copies. The majority of the toxigenic strains examined was characterized by only one erm(B) copy with a sequence identical to the one found in C. difficile 630 and a lower resistance level for erythromycin (MICs ranging from 16 to 24 ml/L). Differently, some strains had an erm(B) gene identical to the one found in C. perfringens CP592. PCR ribotyping and clustering analysis indicate that the examined resistant strains, except one, belong to the same genetic lineage. These results seem to support the hypothesis of the evolution of the C. difficile 630 erm(B) determinant. The functional significance of one or two copies of erm(B) gene in C. difficile strains should be further investigated. 相似文献
39.
Spadoni F Stefani A Morello M Lavaroni F Giacomini P Sancesario G 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》2000,135(4):544-551
Prolonged exposure to manganese in mammals may cause an extrapyramidal disorder characterized by dystonia and rigidity. Gliosis in the pallidal segments underlies the well-established phase of the intoxication. The early phase of the intoxication may be characterized by psychic, nonmotor signs, and its morphological and electrophysiological correlates are less defined. In a rat model of manganese intoxication (20 mg/ml in drinking water for 3 months), neither neuronal loss nor gliosis was detected in globus pallidus (GP). However, a striking vulnerability of manganese-treated GP neurons emerged. The majority of GP neurons isolated from manganese-treated rats died following brief incubation in standard dissociation media. In addition, patch-clamp recordings in the whole-cell configuration were not tolerated by surviving GP neurons. Neither coeval but untreated GP neurons nor striatal ones manifested analogous susceptibility. Using the perforated-patch mode of recording we attempted at identifying the functional hallmarks of GP vulnerability: in particular, voltage-gated calcium currents and glutamate-induced currents were examined. Manganese-treated GP neurons exhibited calcium currents similar to control cells aside from a slight reduction in the dihydropyridine-sensitive current facilitation. Strikingly, manganese-treated GP cells--but not striatal ones--manifested peculiar responses to glutamate, since repeated applications of the excitatory amino acid, at concentrations which commonly promote desensitizing responses, produced instead an irreversible cell damage. Possible mechanisms are discussed. 相似文献
40.