93 results on '"Sibille C"'
Search Results
2. Psychiatry: what do we know for sure? Psychotherapies - Part 2
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Kornreich, C, primary and Sibille, C-A, additional
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- 2023
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3. Conduites à risque chez la personne âgée : quelles spécificités à l’âge avancé ?
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Giustiniani, J., Sibille, C. Masse, and Morgny, C.
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- 2018
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4. Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia
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Troudi, Wafa, Uhrhammer, N., Sibille, C., Dahan, C., Mahfoudh, W., Bouchlaka Souissi, C., Jalabert, T., Chouchane, L., Bignon, Y. J., Ben Ayed, F., and Ben Ammar Elgaaied, A.
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- 2007
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5. Long term chimerism after liver cell transplantation for argininosuccinate lyase deficiency: APASL\Abstract\435
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NAJIMI, M, STÉPHENNE, X, CAILLIAU, C, BOURGOIS, A, SIBILLE, C, REDING, R, DE VILLE DE GOYET, J, and SOKAL, E M
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- 2004
6. Clonal Th2 lymphocytes in patients with the idiopathic hypereosinophilic syndrome
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Roufosse, F., Schandené, L., Sibille, C., Willard-Gallo, K., Kennes, B., Efira, A., Goldman, M., and Cogan, E.
- Published
- 2000
7. Does Consanguinity Protect Against Breast Cancer in Tunisian Population?
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Uhrhummer N, Bignon Yj, Sibille C, Ben Ayed F, Troudi Cherif W, Benammar-Elgaaied A, and Ennafaa H
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education.field_of_study ,business.industry ,Incidence (epidemiology) ,Population ,Consanguinity ,Omics ,medicine.disease ,Breast cancer ,Medicine ,Coefficient of relationship ,business ,education ,Inbreeding ,Consanguineous Marriage ,Demography - Abstract
Consanguinity is highly prevalent in many parts of the world. The highest consanguinity rates (20% to 50% of all marriages) occur in North Africa, the Middle East, Southwest Asia and Southern India. The aim of this study is to assess the effect of consanguineous marriages on the incidence of sporadic and familial breast cancer in Tunisia. We ascertained the rate of consanguineous marriage and the average coefficient of inbreeding among 155 Tunisian patients diagnosed with sporadic or familial breast cancer. The coefficient of inbreeding among all breast cancer patients was 0,007. No difference was observed for sporadic (F=0.008) vs familial breast cancer (F=0.007). The coefficient of inbreeding was significantly lower in the breast cancer group than in the Tunisian general population (0.0157). Considering the age of the patients, the level of inbreeding was lower among patients older than 50 (F=0.0027), while those younger than 50 exhibited a coefficient of inbreeding similar to that of the general population (F=0.01). The protective effect of consanguinity against breast cancer, particularly for patients older than 50 years, may be related to the absence of major factors involved in the onset of breast cancer at an early age. This protective effect may be also related to the contribution of recessive alleles of modifier or low-penetrance genes in the homozygous state.
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- 2014
8. Lhermitte-Duclos disease with obstructive hydrocephalus: An illustrative case treated with endoscopic ventriculo-cisternostomy
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Sibille, C.-A., Triffaux, M., Claes, K., Sznajer, Y., and Gille, M.
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- 2013
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9. Immunolocalization of BRCA1 protein in tumor breast tissue: prescreening of BRCA1 mutation in Tunisian patients with hereditary breast cancer?
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Troudi W, Uhrhammer N, Ben Romdhane K, Sibille C, Wijden Mahfoudh, Chouchane L, Ben Ayed F, Yj, Bignon, Ben Ammar Elgaaied A, and UCL - MD/MIGE - Département de microbiologie, d'immunologie et de génétique
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Male ,Cytoplasm ,Tunisia ,endocrine system diseases ,Tunisian population ,BRCA1 Protein ,Carcinoma, Ductal, Breast ,Breast Neoplasms ,sequencing ,BRCA1 ,BRCA2 ,Immunohistochemistry ,Breast Neoplasms, Male ,Pedigree ,breast cancer ,lcsh:Biology (General) ,Receptors, Estrogen ,DHPLC ,immunohistochemistry ,Humans ,Female ,Tumor Suppressor Protein p53 ,skin and connective tissue diseases ,Receptors, Progesterone ,lcsh:QH301-705.5 - Abstract
BRCA1 is a tumor suppressor gene which is inactivated by mutation in familial breast and ovarian cancers. Over 300 different disease causing germ-line mutations have been described; 60% are unique to an individual family. This diversity and the large size of the gene lead us to search for a pre-screening method for BRCA1 mutations. Since BRCA1 is a nuclear protein in normal cells, but reported by some authors to be cytoplasmic in breast tumor cells of patients with BRCA1 mutation, we evaluated immunohistochemistry as a prescreening technique to identify BRCA1 mutations in patients with familial presentation of breast cancer. Using a monoclonal antibody against the carboxy-terminal region of BRCA1, we performed immunohistochemistry on 18 tumor samples from patients with hereditary breast cancer. Cytoplasmic staining of BRCA1 was observed in 10 cases. Of the 18 tumors, 12 (66%) showed either BRCA mutation or BRCA1 accumulation or both, indicating that BRCA1 function might be lost in breast tumor cells not only through mutation, but also via abnormal cytoplasmic location. The immunohistochemical test used in this study would not be efficient as a pre-screening method of deleterious mutations, but it appeared useful to investigate tumor physiology.
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- 2007
10. Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer
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Troudi, W., primary, Uhrhammer, N., additional, Romdhane, K. Ben, additional, Sibille, C., additional, Amor, M. Ben, additional, El Khil, H. Khodjet, additional, Jalabert, T., additional, Mahfoudh, W., additional, Chouchane, L., additional, Ayed, F. Ben, additional, Bignon, Y.J., additional, and Elgaaied, A. Ben Ammar, additional
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- 2008
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11. ESP027 8p22 deletion in a 4-year old-boy with severe epilepsy and cognitive impairment
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Christiaens, F., primary, Sibille, C., additional, van Rijckevorsel, K., additional, and Nassogne, M.-C., additional
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- 2007
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12. CHIMERIC ENGRAFTMENT AND TISSUE ENZYME ACTIVITY AFTER LIVER CELL TRANSPLANTATION FOR ARGININOSUCCINATE‐LYASE DEFICIENCY
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Stéphenne, X, primary, Najimi, M, additional, Sibille, C, additional, Nassogne, MC, additional, Reding, R, additional, De Goyet, J De Ville, additional, and Sokal, E, additional
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- 2005
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13. CHIMERIC ENGRAFTMENT AND TISSUE ENZYME ACTIVITY AFTER LIVER CELL TRANSPLANTATION FOR ARGININOSUCCINATE-LYASE DEFICIENCY
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St??phenne, X, primary, Najimi, M, additional, Sibille, C, additional, Nassogne, MC, additional, Reding, R, additional, De Goyet, J De Ville, additional, and Sokal, E, additional
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- 2005
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14. Hypercalcemia, Chronic Lymphocytic Leukemia And Multiple Myeloma: Uncommon Association
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Schoevaerdts, D., primary, Mineur, P., additional, Hennaux, V., additional, and Sibille, C., additional
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- 1999
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15. Secretory component production by human bronchial epithelial cells is upregulated by interferon gamma
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Godding, V, primary, Sibille, Y, additional, Massion, PP, additional, Delos, M, additional, Sibille, C, additional, Thurion, P, additional, Giffroy, D, additional, Langendries, A, additional, and Vaerman, JP, additional
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- 1998
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16. Human colonic intraepithelial lymphocytes regulate the cytokines produced by lamina propria mononuclear cells
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Hoang, P., primary, Dehennin, J. P., additional, Li, Li, additional, Sibille, C., additional, Geubel, A., additional, and Vaerman, J. P., additional
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- 1997
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17. Cytotoxic activity of human colonic intraepithelial (IEL) and lamina propria lymphocytes (LPL)
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Hoang, P., primary, Sibille, C., additional, Dehennin, J.P., additional, Vaerman, J.P., additional, and Jewell, D.P., additional
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- 1995
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18. Structure of the gene of tum- transplantation antigen P198: a point mutation generates a new antigenic peptide.
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Sibille, C, primary, Chomez, P, additional, Wildmann, C, additional, Van Pel, A, additional, De Plaen, E, additional, Maryanski, J L, additional, de Bergeyck, V, additional, and Boon, T, additional
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- 1990
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19. Large multiple coronary artery aneurysm in adult patients: a report on three patients and a review of the literature
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Alain Cribier, C. Toussaint, Brice Letac, Cazor Jl, and Sibille C
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Adult ,Male ,Risk ,medicine.medical_specialty ,Arteriosclerosis ,Mucocutaneous Lymph Node Syndrome ,Coronary angiogram ,Coronary Angiography ,Angina ,Coronary Aneurysms ,Internal medicine ,medicine ,Humans ,cardiovascular diseases ,Myocardial infarction ,Child ,Coronary artery aneurysm ,Adult patients ,business.industry ,Middle Aged ,medicine.disease ,Aneurysm ,Coronary Vessels ,Polyarteritis Nodosa ,Coronary arteries ,medicine.anatomical_structure ,Child, Preschool ,Cardiology ,Cardiology and Cardiovascular Medicine ,business - Abstract
Three cases of large multiple coronary aneurysms, situated on both right and left coronary arteries, were seen in three middle-aged adult patients. These patients were hospitalized for myocardial infarction in two cases and for angina pectoris in the third case. On the coronary angiogram, the coronary lesions were quite unusual as there were multiple voluminous aneurysms on both coronary arteries without evidence of atherosclerotic lesions of the remainder of the coronary tree. These lesions did not seem to be congenital or atherosclerotic, and it was postulated that these lesions might have been the sequelae of a mucocutaneous lymph node syndrome although no previous history of this condition could be found in these three patients.
- Published
- 1980
20. Immunogenic (tum-) variants of mouse tumor P815: cloning of the gene of tum- antigen P91A and identification of the tum- mutation.
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De Plaen, E, Lurquin, C, Van Pel, A, Mariamé, B, Szikora, J P, Wölfel, T, Sibille, C, Chomez, P, and Boon, T
- Abstract
Mutagen treatment of mouse P815 tumor cells produces tum- variants that are rejected by syngeneic mice because these variants express new surface antigens. These "tum- antigens" are recognized by cytolytic T lymphocytes but induce no detectable antibody response. Transfection of P815 cell line P1.HTR with DNA of tum- variant P91 yielded transfectants expressing tum- antigen P91A. They were detected by their ability to stimulate proliferation of cytolytic T lymphocytes [Wölfel, T., Van Pel, A., De Plaen, E., Lurquin, C., Maryanski, J. L. & Boon, T. (1987) Immunogenetics 26, 178-187]. A cosmid library of a cell line expressing antigen P91A was transfected into P1.HTR. Transfectants expressing the antigen were obtained. By packaging directly the DNA of a transfectant with lambda phage extracts, we obtained a small cosmid population containing as major component a cosmid that transferred the expression of P91A. The assay of various restriction fragments of this cosmid led to the isolation of an 800-base-pair fragment containing the P91A sequence required for transfection. Comparison with a homologous cDNA showed that this fragment contained only one of the several exons of the P91A gene. The normal and the tum- forms of the gene differ by one nucleotide located in this 137-base-pair exon. The essential role of this mutation, which produces an amino acid change, was confirmed by site-directed mutagenesis. No significant sequence similarity was found between the 800-base-pair fragment and any recorded gene.
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- 1988
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21. Comparative clinical and transcriptional profiles of breast cancer between French and South Mediterranean patients show minor but significative biological differences
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Chalabi, N., Bernard-Gallon, D. J., Bignon, Y. -J, Kwiatkowski, F., Agier, M., Vidal, V., Laplace-Chabaud, V., Sylvain-Vidal, V., Bertholet, V., Longueville, F., Lacroix, M., LECLERCQ Guy, Remacle, J., Sibille, C., Zammateo, N., Ben Jaafar, N., Sefiani, A., Ouldim, K., Mégarbané, A., Jalkh, N., Mahfoudh, W., Troudi, W., Gaïed, A. B. A. -E, and Chouchane, L.
22. Erratum (Cancer Genomics and Proteomics (2009) vol. 5 (5) (253))
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Chalabi, N., Bernard-Gallon, D. J., Bignon, Y. -J, Kwiatkowski, F., Agier, M., Vidal, V., Laplace-Chabaud, V., Sylvain-Vidal, V., Bertholet, V., Longueville, F., Lacroix, M., LECLERCQ Guy, Remacle, J., Sibille, C., Zammateo, N., Jaafar, N. B., Sefiani, A., Ouldim, K., Mégarbané, A., Jalkh, N., Mahfoudh, W., Troudi, W., Ammar-El Gaïed, A. B., and Chouchane, L.
23. Large multiple coronary artery aneurysm in adult patients: a report on three patients and a review of the literature
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Letac, B., primary, Cazor, J.L., additional, Cribier, A., additional, Sibille, C., additional, and Toussaint, C., additional
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- 1980
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24. Genes Coding for T-cell-defined Tum Transplantation Antigens: Point Mutations, Antigenic Peptides, and Subgenic Expression
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Boon, T., primary, Van Pel, A., additional, De Plaen, E., additional, Chomez, P., additional, Lurquin, C., additional, Szikora, J.-P, additional, Sibille, C., additional, Mariame, B., additional, Van den Eynde, B., additional, Lethe, B., additional, and Brichart, V., additional
- Published
- 1989
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25. LMP2+ proteasomes are required for the presentation of specific antigens to cytotoxic T lymphocytes
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SIBILLE, C
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- 1995
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26. Corrigendum to 'p53 Reactivation by PRIMA-1Met (APR-246) sensitises V600E/KBRAF melanoma to vemurafenib'[Eur J of Cancer 55 (2016) 98-110].
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Krayem M, Journe F, Wiedig M, Morandini R, Najem A, Salès F, van Kempen LC, Sibille C, Awada A, Marine JC, and Ghanem G
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- 2022
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27. Multicenter Evaluation of the Idylla GeneFusion in Non-Small-Cell Lung Cancer.
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Depoilly T, Garinet S, van Kempen LC, Schuuring E, Clavé S, Bellosillo B, Ercolani C, Buglioni S, Siemanowski J, Merkelbach-Bruse S, Tischler V, Demes MC, Paridaens H, Sibille C, de Montpreville VT, Rouleau E, Bartczak A, Pasieka-Lis M, Teo RYW, Chuah KL, Barbosa M, Quintana C, Biscuola M, Delgado-Garcia M, Vacirca D, Rappa A, Cashmore M, Smith M, Jasionowicz P, Meeney A, Desmeules P, Terris B, and Mansuet-Lupo A
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- Humans, In Situ Hybridization, Fluorescence, Mutation, Protein-Tyrosine Kinases genetics, Protein-Tyrosine Kinases metabolism, Proto-Oncogene Proteins genetics, Receptor Protein-Tyrosine Kinases genetics, Retrospective Studies, Carcinoma, Non-Small-Cell Lung diagnosis, Carcinoma, Non-Small-Cell Lung genetics, Lung Neoplasms diagnosis, Lung Neoplasms genetics
- Abstract
Targeted therapy in lung cancer requires the assessment of multiple oncogenic driver alterations, including fusion genes. This retrospective study evaluated the Idylla GeneFusion prototype, an automated and ease-of-use (<2 minutes) test, with a short turnaround time (3 hours) to detect fusions involving ALK, ROS1, RET, and NTRK1/2/3 genes and MET exon 14 skipping. This multicenter study (18 centers) included 313 tissue samples from lung cancer patients with 97 ALK, 44 ROS1, 20 RET, and 5 NTRKs fusions, 32 MET exon 14 skipping, and 115 wild-type samples, previously identified with reference methods (RNA-based next-generation sequencing/fluorescence in situ hybridization/quantitative PCR). Valid results were obtained for 306 cases (98%), overall concordance between Idylla and the reference methods was 89% (273/306); overall sensitivity and specificity were 85% (165/193) and 96% (108/113), respectively. Discordances were observed in 28 samples, where Idylla did not detect the alteration identified by the reference methods; and 5 samples where Idylla identified an alteration not detected by the reference methods. All of the ALK-, ROS1-, and RET-specific fusions and MET exon 14 skipping identified by Idylla GeneFusion were confirmed by reference method. To conclude, Idylla GeneFusion is a clinically valuable test that does not require a specific infrastructure, allowing a rapid result. The absence of alteration or the detection of expression imbalance only requires additional testing by orthogonal methods., (Copyright © 2022 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.)
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- 2022
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28. Age-related changes in the BACH2 and PRDM1 genes in lymphocytes from healthy donors and chronic lymphocytic leukemia patients.
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Chi VLD, Garaud S, De Silva P, Thibaud V, Stamatopoulos B, Berehad M, Gu-Trantien C, Krayem M, Duvillier H, Lodewyckx JN, Willard-Gallo K, Sibille C, and Bron D
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- Adult, Aged, Aged, 80 and over, Basic-Leucine Zipper Transcription Factors genetics, Basic-Leucine Zipper Transcription Factors immunology, Cellular Senescence immunology, Down-Regulation immunology, Female, Healthy Volunteers, Humans, Leukemia, Lymphocytic, Chronic, B-Cell blood, Leukemia, Lymphocytic, Chronic, B-Cell pathology, Lymphocyte Subsets immunology, Male, Middle Aged, Positive Regulatory Domain I-Binding Factor 1 genetics, Positive Regulatory Domain I-Binding Factor 1 immunology, RNA, Messenger metabolism, Up-Regulation immunology, Young Adult, Aging immunology, Basic-Leucine Zipper Transcription Factors metabolism, Leukemia, Lymphocytic, Chronic, B-Cell immunology, Lymphocyte Subsets metabolism, Positive Regulatory Domain I-Binding Factor 1 metabolism
- Abstract
Background: Age-related genetic changes in lymphocyte subsets are not currently well documented. BACH2 is a transcription factor that plays an important role in immune-mediated homeostasis by tightly regulating PRDM1 expression in both B-cells and T-cells. BACH2 gene expression is highly sensitive to DNA damage in aged mice. This concept led us to investigate the variation in BACH2 and also PRDM1 expression in major lymphocyte subsets with age., Methods: Lymphocyte subsets from 60 healthy donors, aged from 20 to 90 years, and 41 untreated chronic lymphocytic leukemia patients were studied. BACH2 and PRDM1 gene expression was analyzed by real-time quantitative PCR. BACH2 gene expression was correlated with its protein expression. Lymphocyte apoptosis was evaluated after intracellular oxidative stress-inducing etoposide treatment of T and B cells., Results: Our analysis shows BACH2 mRNA downregulation with age in healthy donor CD4+, CD8+ T-cells and CD19+ B-cells. Decreased BACH2 expression was also correlated with an age-related reduction in CD8 + CD28+ T-cells. We found a strong correlation between age-related BACH2 downregulation and decreased CD4+ T-cell and CD19+ B-cell apoptosis. PRDM1, as expected, was significantly upregulated in CD4+ T-cells, CD8+ T-cells and CD19+ B-cells, and inversely correlated with BACH2. A comparison of untreated chronic lymphocytic leukemia patients with age-matched healthy donors reveals that BACH2 mRNA expression was further reduced in CD4+ T-cells, CD8+ T-cells and leukemic-B cells. PRDM1 gene expression was consequently significantly upregulated in CD4+ and CD8+ T-cells in chronic lymphocytic leukemia patients but not in their leukemic B-cells., Conclusion: Overall, our data suggest that BACH2 and PRDM1 genes are significantly correlated with age in human immune cells and may be involved in immunosenescence.
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- 2019
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29. Predictors of Response and Remission to Antidepressants in Geriatric Depression: A Systematic Review.
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Masse-Sibille C, Djamila B, Julie G, Emmanuel H, Pierre V, and Gilles C
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- Aged, Antidepressive Agents pharmacology, Female, Humans, Male, Antidepressive Agents therapeutic use, Depression drug therapy
- Abstract
Background: Geriatric depression is a heterogeneous disorder that increases morbidity and mortality in a population that is already vulnerable. Predicting response and remission to antidepressants could help clinicians to optimize the management of antidepressants and reduce the consequences of depression., Method: The aim of this article is to present results of a systematic review of the literature on predictive factors related to antidepressant response and remission in older adults with depression., Main Findings: We identified sociodemographic, clinical, neuropsychological, neuroimaging, and genetic factors that could be potential predictors of outcomes. Inconsistent findings and methodological differences among studies, however, limit the generalizability and application of these predictors in clinical practice. The results of our review confirm that geriatric depression includes many subgroups of patients with particular endophenotypes that may influence the course of depression., Conclusion: Further studies are needed to characterize depression subgroups in order to better understand the pathophysiology of late life depression and to find specific predictors for each group of patients.
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- 2018
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30. A fancy eco-compatible wastewater treatment system: Green Bio-sorption Reactor.
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Zhao Y, Liu R, Zhao J, Xu L, and Sibille C
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- Bioreactors, Nitrification, Nitrogen, Phosphorus metabolism, Waste Disposal, Fluid, Wetlands, Sewage, Wastewater
- Abstract
A novel concept was proposed and preliminarily investigated by embedding alum sludge-based constructed wetland into conventional activated sludge system in terms of Green Bio-sorption Reactor (GBR). This novel GBR inherited the aesthetic value of constructed wetland and owned the robust phosphorus (P) adsorption along with the benefit of carriers' addition (dewatered alum sludge). The preliminary demonstration was conducted in a lab-scale sequencing batch reactor (SBR) system without biological phosphorus removal process. The novel process achieved averagely 96%, 99% and 90% for BOD, TP and TN removal with piggery wastewater as influent, demonstrating for the first time of its promising performance. Moreover, the coexistence of biofilm and suspended sludge also achieved 55-88% simultaneous nitrification and denitrification efficiency, higher than biofilm only. Overall, alum sludge-based GBR could achieve reliable pollutants removal and provides a novel and sustainable pathway to upgrade conventional activated sludge system., (Copyright © 2017 Elsevier Ltd. All rights reserved.)
- Published
- 2017
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31. Embedding constructed wetland in sequencing batch reactor for enhancing nutrients removal: A comparative evaluation.
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Liu R, Zhao Y, Zhao J, Xu L, and Sibille C
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- Biofilms, Bioreactors, Nitrogen, Phosphorus, Wastewater, Sewage, Wetlands
- Abstract
In the present study, a novel green bio-sorption reactor (GBR) was firstly proposed and preliminarily investigated by embedding constructed wetland (CW) into the aeration tank of the conventional activated sludge (CAS). This integrated novel system owns the striking features of adding carriers of wetland substrate (i.e. the dewatered alum sludge in this case) in CAS for robust phosphorus adsorption and enriching the biomass. Meanwhile, the "green" feature of this GBR imparted aesthetic value of CW to the CAS system. The preliminary 3-month trial of GBR based on a sequencing batch reactor (GB-SBR) with diluted piggery wastewater demonstrated an average removal of 96%, 99% and 90% for BOD, TP and TN, respectively. The comparison with moving bed biofilm reactor (MBBR) and integrated fixed-film activated sludge (IFAS) reflected the advantages of GBR over purification performance, aesthetic value and potential carbon sink. Moreover, the carriers used in the GBR are dewatered alum sludge which is in line with the policy of "recycle, reuse and reduce". Overall, this GBR undoubtedly offered a more sustainable and economical solution for retrofitting the aging CAS., (Copyright © 2017 Elsevier Ltd. All rights reserved.)
- Published
- 2017
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32. Paracrine nitric oxide induces expression of cardiac sarcomeric proteins in adult progenitor cells through soluble guanylyl cyclase/cyclic-guanosine monophosphate and Wnt/β-catenin inhibition.
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De Pauw A, Massion P, Sekkali B, Andre E, Dubroca C, Kmecova J, Bouzin C, Friart A, Sibille C, Gilon P, De Mulder D, Esfahani H, Strapart A, Martherus R, Payen V, Sonveaux P, Brouckaert P, Janssens S, and Balligand JL
- Subjects
- Adult Stem Cells drug effects, Animals, Antigens, Ly metabolism, Cell Lineage, Cells, Cultured, Coculture Techniques, Dose-Response Relationship, Drug, Female, Immunomagnetic Separation, Male, Membrane Proteins metabolism, Mice, Inbred C57BL, Mice, Knockout, Myocytes, Cardiac drug effects, Nitric Oxide Donors pharmacology, Nitric Oxide Synthase Type III genetics, Nitric Oxide Synthase Type III metabolism, Sarcomeres drug effects, Signal Transduction, Soluble Guanylyl Cyclase deficiency, Soluble Guanylyl Cyclase genetics, Time Factors, Transfection, beta Catenin genetics, Adult Stem Cells metabolism, Cell Differentiation drug effects, Cyclic GMP metabolism, Myocytes, Cardiac enzymology, Nitric Oxide metabolism, Paracrine Communication drug effects, Sarcomeres enzymology, Soluble Guanylyl Cyclase metabolism, Wnt Signaling Pathway drug effects, beta Catenin metabolism
- Abstract
Aim: Cardiac progenitor cells (CPC) from adult hearts can differentiate to several cell types composing the myocardium but the underlying molecular pathways are poorly characterized. We examined the role of paracrine nitric oxide (NO) in the specification of CPC to the cardiac lineage, particularly through its inhibition of the canonical Wnt/β-catenin pathway, a critical step preceding cardiac differentiation., Methods and Results: Sca1 + CPC from adult mouse hearts were isolated by magnetic-activated cell sorting and clonally expanded. Pharmacologic NO donors increased their expression of cardiac myocyte-specific sarcomeric proteins in a concentration and time-dependent manner. The optimal time window for NO efficacy coincided with up-regulation of CPC expression of Gucy1a3 (coding the alpha1 subunit of guanylyl cyclase). The effect of paracrine NO was reproduced in vitro upon co-culture of CPC with cardiac myocytes expressing a transgenic NOS3 (endothelial nitric oxide synthase) and in vivo upon injection of CPC in infarcted hearts from cardiac-specific NOS3 transgenic mice. In mono- and co-cultures, this effect was abrogated upon inhibition of soluble guanylyl cyclase or nitric oxide synthase, and was lost in CPC genetically deficient in Gucy1a3. Mechanistically, NO inhibits the constitutive activity of the canonical Wnt/β-catenin in CPC and in cell reporter assays in a guanylyl cyclase-dependent fashion. This was paralleled with decreased expression of β-catenin and down-regulation of Wnt target genes in CPC and abrogated in CPC with a stabilized, non-inhibitable β-catenin., Conclusions: Exogenous or paracrine sources of NO promote the specification towards the myocyte lineage and expression of cardiac sarcomeric proteins of adult CPC. This is contingent upon the expression and activity of the alpha1 subunit of guanylyl cyclase in CPC that is necessary for NO-mediated inhibition of the canonical Wnt/β-catenin pathway., (Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2016. For permissions please email: journals.permissions@oup.com.)
- Published
- 2016
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33. p53 Reactivation by PRIMA-1(Met) (APR-246) sensitises (V600E/K)BRAF melanoma to vemurafenib.
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Krayem M, Journe F, Wiedig M, Morandini R, Najem A, Salès F, van Kempen LC, Sibille C, Awada A, Marine JC, and Ghanem G
- Subjects
- Animals, Apoptosis drug effects, Cell Line, Tumor, Cell Proliferation drug effects, Dose-Response Relationship, Drug, Drug Resistance, Neoplasm, Drug Synergism, Genetic Predisposition to Disease, Humans, Male, Melanoma enzymology, Melanoma genetics, Melanoma pathology, Mice, Nude, Molecular Targeted Therapy, Mutation, Phosphatidylinositol 3-Kinase metabolism, Proto-Oncogene Proteins B-raf genetics, Proto-Oncogene Proteins B-raf metabolism, Proto-Oncogene Proteins c-akt metabolism, Signal Transduction drug effects, Skin Neoplasms enzymology, Skin Neoplasms genetics, Skin Neoplasms pathology, Time Factors, Tumor Suppressor Protein p53 genetics, Vemurafenib, Xenograft Model Antitumor Assays, Antineoplastic Combined Chemotherapy Protocols pharmacology, Indoles pharmacology, Melanoma drug therapy, Protein Kinase Inhibitors pharmacology, Proto-Oncogene Proteins B-raf antagonists & inhibitors, Quinuclidines pharmacology, Skin Neoplasms drug therapy, Sulfonamides pharmacology, Tumor Suppressor Protein p53 metabolism
- Abstract
Intrinsic and acquired resistance of metastatic melanoma to (V600E/K)BRAF and/or MEK inhibitors, which is often caused by activation of the PI3K/AKT survival pathway, represents a major clinical challenge. Given that p53 is capable of antagonising PI3K/AKT activation we hypothesised that pharmacological restoration of p53 activity may increase the sensitivity of BRAF-mutant melanoma to MAPK-targeted therapy and eventually delay and/or prevent acquisition of drug resistance. To test this possibility we exposed a panel of vemurafenib-sensitive and resistant (innate and acquired) (V600E/K)BRAF melanomas to a (V600E/K)BRAF inhibitor (vemurafenib) alone or in combination with a direct p53 activator (PRIMA-1(Met)/APR-246). Strikingly, PRIMA-1(Met) synergised with vemurafenib to induce apoptosis and suppress proliferation of (V600E/K)BRAF melanoma cells in vitro and to inhibit tumour growth in vivo. Importantly, this drug combination decreased the viability of both vemurafenib-sensitive and resistant melanoma cells irrespectively of the TP53 status. Notably, p53 reactivation was invariably accompanied by PI3K/AKT pathway inhibition, the activity of which was found as a dominant resistance mechanism to BRAF inhibition in our lines. From all various combinatorial modalities tested, targeting the MAPK and PI3K signalling pathways through p53 reactivation or not, the PRIMA-1(Met)/vemurafenib combination was the most cytotoxic. We conclude that PRIMA-1(Met) through its ability to directly reactivate p53 regardless of the mechanism causing its deactivation, and thereby dampen PI3K signalling, sensitises (V600E/K)BRAF-positive melanoma to BRAF inhibitors., (Copyright © 2015 Elsevier Ltd. All rights reserved.)
- Published
- 2016
- Full Text
- View/download PDF
34. Consanguinity Protecting Effect Against Breast Cancer among Tunisian Women: Analysis of BRCA1 Haplotypes.
- Author
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Medimegh I, Troudi W, Omrane I, Ayari H, Uhrhummer N, Majoul H, Benayed F, Mezlini A, Bignon YJ, Sibille C, and Elgaaied AB
- Subjects
- Adult, Aged, Breast Neoplasms epidemiology, Breast Neoplasms genetics, Breast Neoplasms prevention & control, Case-Control Studies, Female, Follow-Up Studies, Genetic Predisposition to Disease, Heterozygote, Homozygote, Humans, Incidence, Middle Aged, Neoplasm Grading, Neoplasm Staging, Prognosis, Prospective Studies, Tunisia epidemiology, Young Adult, BRCA1 Protein genetics, Consanguinity, Haplotypes genetics, Mutation genetics, Polymorphism, Single Nucleotide genetics
- Abstract
The purpose of this study is to assess the effect of consanguinity on breast cancer incidence in Tunisia. We conducted a case-control study to evaluate the involvement of heterozygote and homozygote haplotypes of BRCA1 gene SNPs according to consanguinity among 40 cases of familial breast cancer, 46 cases with sporadic breast cancer and 34 healthy controls. We showed significant difference in consanguinity rate between breast cancer patients versus healthy controls P = 0.001. Distribution of homozygous BRCA1 haplotypes among healthy women versus breast cancer patients was significantly different; p=0.02. Parental consanguinity seems to protect against breast cancer in the Tunisian population.
- Published
- 2015
- Full Text
- View/download PDF
35. Myofibroblastoma of the breast with smooth muscle differentiation showing deletion of 13q14 region: report of a case.
- Author
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Trépant AL, Sibille C, Frunza AM, Simon P, and Noël JC
- Subjects
- Aged, Biomarkers, Tumor analysis, Biopsy, Breast Neoplasms chemistry, Breast Neoplasms genetics, Breast Neoplasms pathology, Breast Neoplasms surgery, Chromosome Deletion, Chromosome Disorders genetics, Chromosome Disorders pathology, Chromosomes, Human, Pair 13 genetics, Female, Forkhead Box Protein O1, Genetic Predisposition to Disease, Humans, In Situ Hybridization, Fluorescence, Myocytes, Smooth Muscle chemistry, Neoplasms, Muscle Tissue chemistry, Neoplasms, Muscle Tissue genetics, Neoplasms, Muscle Tissue pathology, Neoplasms, Muscle Tissue surgery, Phenotype, Predictive Value of Tests, Ultrasonography, Mammary, Biomarkers, Tumor genetics, Breast Neoplasms diagnosis, Cell Differentiation, Chromosome Disorders diagnosis, Forkhead Transcription Factors genetics, Gene Deletion, Myocytes, Smooth Muscle pathology, Neoplasms, Muscle Tissue diagnosis
- Abstract
Breast myofibroblastomas are rare benign mesenchymal tumors belonging to the group of stromal breast tumors composed of spindle-shaped cells and characterized by a broad morphologic spectrum. Among the different morphologic variants described, breast MFBs can show smooth muscle cell differentiation in very rare cases. In terms of the genetic abnormalities found in this type of tumor, a deletion of chromosome 13q14 was recently confirmed by FISH in some cases of mammary MFB. In this paper, we report an unusual case of MFB with smooth muscle differentiation showing a deletion of chromosome 13q14., (Copyright © 2014 Elsevier GmbH. All rights reserved.)
- Published
- 2014
- Full Text
- View/download PDF
36. CD4⁺ follicular helper T cell infiltration predicts breast cancer survival.
- Author
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Gu-Trantien C, Loi S, Garaud S, Equeter C, Libin M, de Wind A, Ravoet M, Le Buanec H, Sibille C, Manfouo-Foutsop G, Veys I, Haibe-Kains B, Singhal SK, Michiels S, Rothé F, Salgado R, Duvillier H, Ignatiadis M, Desmedt C, Bron D, Larsimont D, Piccart M, Sotiriou C, and Willard-Gallo K
- Subjects
- Antigens, CD metabolism, Breast Neoplasms mortality, Breast Neoplasms pathology, Case-Control Studies, Cytokines genetics, Cytokines metabolism, Female, Gene Expression, Gene Expression Regulation, Neoplastic, Humans, Kaplan-Meier Estimate, Oligonucleotide Array Sequence Analysis, Receptors, Antigen, T-Cell metabolism, Signal Transduction immunology, T-Lymphocytes, Helper-Inducer metabolism, T-Lymphocytes, Regulatory immunology, T-Lymphocytes, Regulatory metabolism, Transcriptome, Breast Neoplasms immunology, T-Lymphocytes, Helper-Inducer immunology
- Abstract
CD4⁺ T cells are critical regulators of immune responses, but their functional role in human breast cancer is relatively unknown. The goal of this study was to produce an image of CD4⁺ T cells infiltrating breast tumors using limited ex vivo manipulation to better understand the in vivo differences associated with patient prognosis. We performed comprehensive molecular profiling of infiltrating CD4⁺ T cells isolated from untreated invasive primary tumors and found that the infiltrating T cell subpopulations included follicular helper T (Tfh) cells, which have not previously been found in solid tumors, as well as Th1, Th2, and Th17 effector memory cells and Tregs. T cell signaling pathway alterations included a mixture of activation and suppression characterized by restricted cytokine/chemokine production, which inversely paralleled lymphoid infiltration levels and could be reproduced in activated donor CD4⁺ T cells treated with primary tumor supernatant. A comparison of extensively versus minimally infiltrated tumors showed that CXCL13-producing CD4⁺ Tfh cells distinguish extensive immune infiltrates, principally located in tertiary lymphoid structure germinal centers. An 8-gene Tfh signature, signifying organized antitumor immunity, robustly predicted survival or preoperative response to chemotherapy. Our identification of CD4⁺ Tfh cells in breast cancer suggests that they are an important immune element whose presence in the tumor is a prognostic factor.
- Published
- 2013
- Full Text
- View/download PDF
37. A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion.
- Author
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Lysy PA, Ravoet M, Wustefeld S, Bernard P, Nassogne MC, Wyns E, and Sibille C
- Subjects
- Comparative Genomic Hybridization, Female, Humans, In Situ Hybridization, Fluorescence, Infant, Infant, Newborn, Mutation genetics, Pregnancy, Skull abnormalities, Syndrome, Chromosome Deletion, Craniosynostoses genetics
- Published
- 2009
- Full Text
- View/download PDF
38. Molecular profiling of CD3-CD4+ T cells from patients with the lymphocytic variant of hypereosinophilic syndrome reveals targeting of growth control pathways.
- Author
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Ravoet M, Sibille C, Gu C, Libin M, Haibe-Kains B, Sotiriou C, Goldman M, Roufosse F, and Willard-Gallo K
- Subjects
- Adolescent, Adult, Female, Flow Cytometry, Gene Expression Profiling, Humans, Hypereosinophilic Syndrome metabolism, Male, MicroRNAs physiology, Middle Aged, Oligonucleotide Array Sequence Analysis, RNA, Messenger genetics, RNA, Messenger metabolism, Reverse Transcriptase Polymerase Chain Reaction, Signal Transduction, Young Adult, CD3 Complex metabolism, CD4-Positive T-Lymphocytes metabolism, Cell Proliferation, Hypereosinophilic Syndrome genetics, Hypereosinophilic Syndrome pathology, Lymphocytes metabolism
- Abstract
The clonal CD3(-)CD4(+) T-cell population characterizing lymphocytic variant hypereosinophilic syndrome (L-HES) persists for years, with a subgroup of patients ultimately progressing to T lymphoma. The molecular changes associated with the premalignant clone and the emergence of malignant subclones are unknown, precluding the development of targeted therapy for this HES variant. In this study, we used whole genome arrays to examine gene expression in the CD3(-)CD4(+) T cells and found that 850 genes were differentially regulated during chronic disease compared with CD3(+)CD4(+) T cells from healthy donors. Changes in the expression of 349 genes were altered in association with the clinical progression from chronic L-HES to T lymphoma in 1 patient, with 87 of 349 genes representing further changes in genes whose expression was altered in all chronic disease patients (87 of 850). Array analysis after CD2/CD28-mediated activation revealed that the major gene expression changes observed in the CD3(-)CD4(+) T cells do not reflect activation induced alterations but rather pathways involved in T-cell homeostasis, including transforming growth factor-beta signaling, apoptosis, and T-cell maturation, signaling, and migration. Examination of microRNA expression in the CD3(-)CD4(+) T cells from patients with chronic disease identified 23 microRNAs that changed significantly, among which miR-125a further decreased in association with one patient's evolution to T lymphoma.
- Published
- 2009
- Full Text
- View/download PDF
39. Comparative clinical and transcriptomal profiles of breast cancer between French and South Mediterranean patients show minor but significative biological differences.
- Author
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Chalabi N, Bernard-Gallon DJ, Bignon YJ, Kwiatkowski F, Agier M, Vidal V, Laplace-Chabaud V, Sylvain-Vidal V, Bertholet V, De Longueville F, Lacroix M, Leclercq G, Remacle J, Sibille C, Zammateo N, Ben Jaafar N, Sefiani A, Ouldim K, Mégarbané K, Jalkh N, Mahfoudh W, Troudi W, Ben Ammar-El Gaïed A, and Chouchane L
- Subjects
- Breast Neoplasms metabolism, Breast Neoplasms pathology, Carcinoma, Ductal, Breast genetics, Carcinoma, Ductal, Breast metabolism, Carcinoma, Ductal, Breast secondary, Carcinoma, Lobular genetics, Carcinoma, Lobular metabolism, Carcinoma, Lobular secondary, Female, France, Humans, Lebanon, Middle Aged, Morocco, Prognosis, Prohibitins, Tunisia, Biomarkers, Tumor genetics, Breast Neoplasms genetics, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Oligonucleotide Array Sequence Analysis methods
- Abstract
Background: In Western countries, breast cancer incidence and mortality are higher than in Mediterranean countries. These differences have been ascribed to environmental factors but also to late-stage diagnostic and biological specific characteristics., Patients and Methods: Between September 2002 and September 2005, we collected clinical data by phone counselling 180 French and Mediterranean breast cancer patients and performed microarray experiments., Results: Characteristics of breast cancer in patients from Lebanon, Tunisia and Morocco were more aggressive (more SBR grade III and positive node invasion) and patients were 10 years younger at diagnosis. Sixteen differentially expressed genes such as MMP9, VEGF, PHB1, BRCA1, TFAP2C, GJA1 and TFF1 were also found. Additionally, an up-regulation of cytokeratins KRT8 and KRT18 may indicate a luminal B subtype in "South" (Lebanon, Tunisia and Morocco) tumors while "North" (France) tumors may more frequently be luminal A type., Conclusion: This study allowed the identification of specific clinical and transcriptomic parameters in patients from South Mediterranean countries.
- Published
- 2008
40. Retinoblastoma and deletion of the long arm of chromosome 13: an underestimated diagnosis?
- Author
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Brichard B, Chantrain C, Gala JL, Sibille C, Vermylen C, and De Potter P
- Subjects
- Antineoplastic Combined Chemotherapy Protocols therapeutic use, Carboplatin administration & dosage, Chromosomes, Human, Pair 13 genetics, Chromosomes, Human, Pair 8 genetics, Combined Modality Therapy, Etoposide administration & dosage, Eye Enucleation, False Negative Reactions, Female, Humans, Hyperthermia, Induced, In Situ Hybridization, Fluorescence, Infant, Remission Induction, Retinal Neoplasms therapy, Retinoblastoma therapy, Skull abnormalities, Vincristine administration & dosage, Chromosome Deletion, Chromosomes, Human, Pair 13 ultrastructure, Chromosomes, Human, Pair 8 ultrastructure, Genes, Retinoblastoma, Neoplasms, Multiple Primary genetics, Retinal Neoplasms genetics, Retinoblastoma genetics, Translocation, Genetic genetics
- Abstract
We report an infant with normal neurological development and phenotype who developed bilateral retinoblastoma (RB). This patient, despite lack of dysmorphic features, demonstrated constitutional abnormality of the long arm of chromosome 13 on standard karyotype. We recommend systematic cytogenetic examinations complemented by fluorescent in situ hybridization as second-line screening in all patients suspected for hereditary RB despite negative RB1 molecular screening and normal phenotype., ((c) 2007 Wiley-Liss, Inc.)
- Published
- 2008
- Full Text
- View/download PDF
41. Current limitations to the histopathological diagnosis of some frequently encountered bone tumours.
- Author
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Galant C, Malghem J, Sibille C, Docquier PL, and Delloye C
- Subjects
- Chondroma pathology, Giant Cell Tumors pathology, Humans, Osteosarcoma pathology, Bone Neoplasms pathology
- Abstract
The final diagnosis of a bone tumour comes in many cases like the last piece of a puzzle which requires integration of clinical, imaging and pathological data. However there are situations in which a discrepancy exists between histology and imaging studies and where histology alone cannot be decisive. This paper reviews such situations.
- Published
- 2008
42. Partial proximal 10q trisomy: a new case associated with biliary atresia.
- Author
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Lysy PA, Sibille C, Gillerot Y, Smets F, and Sokal EM
- Subjects
- Aortic Coarctation surgery, Biliary Atresia diagnosis, Chromosome Banding, Humans, Infant, Newborn, Biliary Atresia genetics, Chromosomes, Human, Pair 10, Trisomy
- Abstract
Herein we describe a unique case of partial proximal 10q trisomy presenting biliary atresia, anal anteposition and cardiac malformation. The 10q duplication was confirmed by G banding on prophase chromosomes. A review of the literature confirmed that the patient displayed characteristic dysmorphic features of the recently defined partial proximal trisomy 10q syndrome and emphasized the interindividual variability of visceral malformations.
- Published
- 2007
- Full Text
- View/download PDF
43. Human skin fibroblasts: From mesodermal to hepatocyte-like differentiation.
- Author
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Lysy PA, Smets F, Sibille C, Najimi M, and Sokal EM
- Subjects
- Actins metabolism, Adolescent, Adult, Cells, Cultured, Child, Connective Tissue Cells metabolism, Epithelial Cells metabolism, Fibroblasts metabolism, Hepatocytes cytology, Hepatocytes metabolism, Humans, Mesenchymal Stem Cells cytology, Mesenchymal Stem Cells metabolism, Phenotype, Snail Family Transcription Factors, Transcription Factors metabolism, Cell Differentiation physiology, Connective Tissue Cells cytology, Epithelial Cells cytology, Fibroblasts cytology, Skin cytology
- Abstract
The phenotypic homology of fibroblasts and mesenchymal stem cells (MSCs) has been recently described. Our study investigated the in vitro potential of human skin fibroblasts to differentiate into mesodermal (osteocyte and adipocyte) and endodermal (hepatocyte) cell lineages by comparison with human bone marrow (hBM) MSCs. The endodermal potential of fibroblasts was then explored in vivo in a mouse model of liver injury. Fibroblasts were able to acquire osteocyte and adipocyte phenotypes as assessed by cytochemistry and gene expression analyses. After exposure to a specific differentiation cocktail, these cells presented hepatocyte-like morphology and acquired liver-specific markers on protein and gene expression levels. Furthermore, these fibroblast-derived hepatocyte-like cells (FDHLCs) displayed the ability to store glycogen and synthesize small amounts of urea. By gene expression analysis, we observed that fibroblasts remained in a mesenchymal-epithelial transition state after hepatocyte differentiation. Moreover, FDHLCs lost their hepatocyte-like phenotype after dedifferentiation. In vivo, human fibroblasts infused directly into the liver of hepatectomized severe combined immunodeficient (SCID) mice engrafted in situ and expressed hepatocyte markers (albumin, alpha-fetoprotein, and cytokeratin 18) together with the mesodermal marker fibronectin. Despite lower liver-specific marker expression, the in vitro and in vivo differentiation profile of fibroblasts was comparable to that of mesenchymal-derived hepatocyte-like cells (MDHLCs). In conclusion, our work demonstrates that human skin fibroblasts are able to display mesodermal and endodermal differentiation capacities and provides arguments that these cells share MSCs features both on the phenotypic and functional levels.
- Published
- 2007
- Full Text
- View/download PDF
44. Sustained engraftment and tissue enzyme activity after liver cell transplantation for argininosuccinate lyase deficiency.
- Author
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Stéphenne X, Najimi M, Sibille C, Nassogne MC, Smets F, and Sokal EM
- Subjects
- Ammonia blood, Argininosuccinate Lyase metabolism, Argininosuccinic Acid blood, Argininosuccinic Acid urine, Argininosuccinic Aciduria, Child Development, Child, Preschool, Female, Humans, In Situ Hybridization, Fluorescence, Liver physiopathology, Liver Function Tests, Male, Metabolism, Inborn Errors physiopathology, Metabolism, Inborn Errors psychology, Psychomotor Performance, Time Factors, Transplantation Chimera, alpha-Fetoproteins metabolism, Graft Survival, Hepatocytes transplantation, Metabolism, Inborn Errors surgery
- Abstract
Background & Aims: Donor cell engraftment with expression of enzyme activity is the goal of liver cell transplantation for inborn errors of liver metabolism with a view to achieving sustained metabolic control., Methods: Sequential hepatic cell transplantations using male and female cells were performed in a 3.5-year-old girl with argininosuccinate lyase deficiency over a period of 5 months. Beside clinical, psychomotor, and metabolic follow-up, engraftment was analyzed in repeated liver biopsies (2.5, 5, 8, and 12 months after first infusion) by fluorescence in situ hybridization for the Y-chromosome and by measurement of tissue enzyme activity., Results: Metabolic control was achieved together with psychomotor catch-up, changing the clinical phenotype from a severe neonatal one to a moderate late-onset type. The child was no longer hospitalized and was able to attend normal school. Sustained engraftment of male donor liver cells was shown in repeated biopsies, reaching 19% at 8 months and 12.5% at the 12-month follow-up. XXYY tetraploid donor cells were mainly detected during the infusion period (2.5- and 5-month biopsies), whereas in the follow-up 8-month and 1-year biopsies, diploid donor cell subpopulations had become dominant. Moreover, argininosuccinate lyase activity, originally absent, became measurable in 2 different biopsy samples at 8 months, reaching 3% of control activity, indicating in situ metabolic effect and supporting the clinical evolution to a moderate form of the disease., Conclusions: Liver cell transplantation can achieve donor cell engraftment in humans in a significant proportion, leading to sustained metabolic and clinical control with psychomotor catch-up.
- Published
- 2006
- Full Text
- View/download PDF
45. Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation.
- Author
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Brichard B, Heusterspreute M, De Potter P, Chantrain C, Vermylen C, Sibille C, and Gala JL
- Subjects
- Adult, Age Factors, Blotting, Southern, Female, Humans, Male, Pedigree, Retinal Neoplasms pathology, Retinoblastoma pathology, Genes, Retinoblastoma genetics, Germ-Line Mutation genetics, Retinal Neoplasms genetics, Retinoblastoma genetics, Retinoblastoma Protein genetics
- Abstract
Conclusive identification of RB1 mutations in retinoblastoma is predicted to improve the clinical management of affected children and relatives. However, despite clear clinical benefits, RB1 screening remains difficult, most of the alterations being unique and randomly distributed throughout the entire coding sequence. In this report, we present the results of a constitutional RB1 analysis undertaken in our institution over the last four years. The detection of RB1 gene deletion or mutation was performed by Southern blot and sequence analyses in 73 patients (including three families with 2, 3 and 3 probands, respectively). Complementary constitutional chromosome and fluorescent in situ hybridization (FISH) analyses of RB1 gene were applied in cases where hereditary retinoblastoma was suspected despite negative detection. Altogether, germline abnormalities were found in 11% (4/36 patients) of sporadic unilateral retinoblastoma (median age, 21.5 months) and 86% (32/37 patients) of sporadic bilateral or positive familial history retinoblastoma (median age, 5 months). The spectrum of germline alterations found in 31 distinct families included 12 nonsense mutations (39%); 10 point insertions or deletions with frameshift (32%); 4 mutations and 1 deletion affecting splice sites (16%); 2 missense mutations (6%); and 2 large deletions (6%). A total of 15 mutations have not been previously reported. In this small series, splicing mutations were associated with bilateral disease whilst most of the frameshift mutations were identified in patients with an early age at diagnosis, bilateral disease or hereditary forms of the disease. This study confirms that screening for constitutional RB1 mutation should become an integral part of current management of any patient affected by retinoblastoma irrespective of the tumour laterality and familial background.
- Published
- 2006
- Full Text
- View/download PDF
46. Defective CD3gamma gene transcription is associated with NFATc2 overexpression in the lymphocytic variant of hypereosinophilic syndrome.
- Author
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Willard-Gallo KE, Badran BM, Ravoet M, Zerghe A, Burny A, Martiat P, Goldman M, Roufosse F, and Sibille C
- Subjects
- Adult, CD3 Complex genetics, Cell Line, Cytokines metabolism, Female, Humans, Hypereosinophilic Syndrome genetics, Hypereosinophilic Syndrome pathology, NF-kappa B metabolism, NFATC Transcription Factors genetics, Receptors, Antigen, T-Cell genetics, Receptors, Antigen, T-Cell metabolism, Response Elements genetics, Th2 Cells pathology, CD3 Complex biosynthesis, Gene Expression Regulation genetics, Hypereosinophilic Syndrome metabolism, NFATC Transcription Factors metabolism, Th2 Cells metabolism, Transcription, Genetic genetics
- Abstract
Objective: Determine the molecular defects underlying the CD3(-)CD4(+) T-cell phenotype and persistence of this clonal population in patients with hypereosinophilic syndrome., Patients and Methods: Patients in this study suffer from the lymphocytic variant of hypereosinophilic syndrome distinguished by a CD3(-)CD4(+) T-cell clone that overexpresses Th2 cytokines upon activation and thereby provokes the eosinophilia. Interleukin-2-dependent CD3(-)CD4(+) T-cell lines were derived from patient blood at various disease stages and used to investigate the molecular modifications correlated with their abnormal phenotype., Results: We demonstrate that the CD3(-)CD4(+) T cells, characterized by a clonal TCRbeta gene rearrangement, maintained the same immunophenotype over the 6-year period of our study, during which one patient progressed from premalignant disease to CD3(-)CD4(+) T-cell lymphoma. We show that a specific loss of CD3gamma gene transcripts is responsible for the defect in TCR/CD3 surface expression. In addition, the level of NFATc2 binding to NFAT motifs in the CD3gamma gene promoter was greatly increased in the abnormal T cells. Our studies indicate that CD3gamma promoter activity can be positively influenced by NFATc1 plus NF-kappaB p50 and negatively regulated by NFATc2 containing complexes. We show that in patients' CD3(-)CD4(+) T cells, an increase in nuclear NFATc2 occurs in parallel with a decrease in NFATc1 and NF-kappaB gene expression., Conclusion: Hypereosinophilic syndrome joins the growing number of pathological conditions where a defect in surface expression and/or function of the TCR/CD3 complex results from altered regulation of CD3gamma gene expression.
- Published
- 2005
- Full Text
- View/download PDF
47. 6q- is an early and persistent chromosomal aberration in CD3-CD4+ T-cell clones associated with the lymphocytic variant of hypereosinophilic syndrome.
- Author
-
Ravoet M, Sibille C, Roufosse F, Duvillier H, Sotiriou C, Schandené L, Martiat P, Goldman M, and Willard-Gallo KE
- Subjects
- Adult, Base Sequence, Chromosomes, Artificial, Bacterial, Chromosomes, Human, Pair 10, Female, Gene Deletion, Humans, In Situ Hybridization, Fluorescence, Lymphocytes pathology, Molecular Sequence Data, CD3 Complex biosynthesis, CD4-Positive T-Lymphocytes metabolism, Chromosome Aberrations, Chromosomes, Human, Pair 6, Hypereosinophilic Syndrome genetics
- Abstract
Background and Objectives: The lymphocytic variant of hypereosinophilic syndrome (LV-HES) is an underrated disease defined by the monoclonal proliferation of interleukin-5 secreting T-cells. This disease is distinguished by a period of chronic lymphoproliferation without clinical transformation, which is frequently a precursor to T-cell lymphoma. In this study, LV-HES was used as a model of pre-malignancy to identify specific marker(s) predictive of the potential for malignant transformation., Design and Methods: The karyotypic abnormalities detected in the abnormal CD3-CD4+ T cells were further characterized by fluorescent in situ hybridization. A multi-step retrospective analysis was performed on successive blood samples during a six-year follow up to correlate the evolution of cytogenetic changes with clinical progression. Expression array analysis was used to investigate the effect of these chromosomal aberrations on gene expression., Results: A 6q deletion was detected in the two LV-HES patients during their chronic disease phase. An additional 10p deletion was found alone or in association with the 6q defect in one patient prior to the development of a CD3-CD4+ T-cell lymphoma six years after diagnosis. We show that the 6q but not the 10p deletion is both stable and persistent throughout the chronic disease, finally emerging as the predominant aberration in the lymphoma cells. Six genes mapped to the 6q-deleted region displayed altered gene expression profiles both in the chronic and malignant disease phases., Interpretation and Conclusions: Our data suggest that the 6q deletion represents an early cytogenetic marker for T-cell transformation.
- Published
- 2005
48. CD4(+), CD56(+) DC2 acute leukemia is characterized by recurrent clonal chromosomal changes affecting 6 major targets: a study of 21 cases by the Groupe Français de Cytogénétique Hématologique.
- Author
-
Leroux D, Mugneret F, Callanan M, Radford-Weiss I, Dastugue N, Feuillard J, Le Mée F, Plessis G, Talmant P, Gachard N, Uettwiller F, Pages MP, Mozziconacci MJ, Eclache V, Sibille C, Avet-Loiseau H, and Lafage-Pochitaloff M
- Subjects
- Acute Disease, Adolescent, Aged, Aged, 80 and over, Child, Female, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Leukemia immunology, Male, Middle Aged, CD4 Antigens analysis, CD56 Antigen analysis, Chromosome Aberrations, Leukemia genetics
- Abstract
CD4(+), CD56(+) DC2 malignancies constitute a novel disease entity, which has recently been shown to arise from a transformed lymphoid-related plasmacytoid dendritic cell (DC2). Diagnosis is primarily based on a particular immunophenotype with tumor cells expressing CD4 and CD56 antigens in the absence of common lymphoid or myeloid lineage markers. Little is currently known about the cytogenetic features of this disease entity. In this setting, the Groupe Français de Cytogénétique Hématologique (GFCH) initiated a cytogenetic study of 18 adults and 3 children with CD4(+), CD56(+) DC2 acute leukemia using conventional and fluorescence in situ hybridization/24-color karyotyping. Clonal, mostly complex chromosome aberrations were found in 14 patients (66%). Six major recurrent chromosomal targets were defined. These were 5q, 12p, 13q, 6q, 15q, and 9, which were involved in 72% (5q), 64% (12p and 13q), 50% (6q), 43% (15q), and 28% (monosomy 9) of cases, respectively. Cytogenetic features can be summarized as follows: (1) gross genomic imbalances (mostly losses) predominate, (2) no single anomaly can be considered as specific, whereas their combination/accumulation is, and (3) both lymphoid and myeloid lineage-associated rearrangements are observed in unusual combinations in the same cell. This is suggestive of complex multistep tumorigenic mechanisms and is supportive of the hypothesis that CD4(+), CD56(+) DC2 acute leukemia may arise from an undifferentiated nonmyeloid nonlymphoid progenitor cell. In conclusion, the present study documents for the first time the existence of a characteristic cytogenetic profile for this novel disease entity.
- Published
- 2002
- Full Text
- View/download PDF
49. T-cell receptor-independent activation of clonal Th2 cells associated with chronic hypereosinophilia.
- Author
-
Roufosse F, Schandené L, Sibille C, Kennes B, Efira A, Cogan E, and Goldman M
- Subjects
- Adult, CD3 Complex, CD4 Antigens, Cell Differentiation immunology, Clone Cells immunology, Eosinophilia pathology, Female, Humans, Lymphocyte Activation, Th2 Cells pathology, Cytokines immunology, Eosinophilia immunology, Receptors, Antigen, T-Cell immunology, Th2 Cells immunology
- Abstract
We recently observed a clonal expansion of CD3(-)CD4(+) T cells secreting Th2-type cytokines in patients presenting chronic hypereosinophilia. As clonal T cells isolated from such patients did not spontaneously secrete cytokines in vitro, we reasoned that costimulatory signals delivered by antigen-presenting cells might be required to induce their full activation. To address this question, we investigated in two such patients the responses of CD3(-)CD4(+) T cells to dendritic cells (DC). DC elicited proliferation and production of interleukin-5 (IL-5) and IL-13 by clonal cells from patient 1 and upregulated their expression of CD25 (IL-2R-alpha). These effects were abolished when blocking monoclonal antibodies (MoAbs) against IL-2R-alpha and IL-2 were added to cocultures, indicating critical involvement of an autocrine IL-2/IL-2R pathway. Cells from patient 2 were stimulated by DC to produce Th2 cytokines only when rIL-2 or rIL-15 was added to cocultures. In both patients, addition of inhibitory MoAbs against B7-1/B7-2 or CD2 to cocultures resulted in dramatic reduction of cytokine production and inhibited CD25 upregulation. Thus, TCR/CD3-independent activation of clonal Th2 cells by DC is an IL-2-dependent process, which requires signaling through CD2 and CD28.
- Published
- 1999
50. Perianal condylomata acuminata.
- Author
-
Hoang P, Li L, Sibille C, Dalton H, Marbaix E, Kartheuser A, Geubel A, and Vanheuverzwyn R
- Subjects
- Adult, Combined Modality Therapy, Humans, Recurrence, Anus Diseases diagnosis, Anus Diseases therapy, Condylomata Acuminata diagnosis, Condylomata Acuminata therapy
- Abstract
Anal and perianal condylomata acuminata are warts caused by infection with the human papillomavirus (HPV). The annual incidence of genital warts seems to have increased during the past few decades. Approximately 1.5 million consultations per year take place in the United States with this condition (1). Papillomavirus is a sexually transmitted disease, and is associated with several other venereal infections as well as with intraepithelial neoplasia and invasive squamous carcinoma. Only certain genotypes of HPV are carcinogenic, and can be precisely identified by in situ hybridisation techniques. There are many therapeutic alternatives, possibly reflecting the wide variability in treatment response.
- Published
- 1996
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