15 results on '"Lavoine, N."'
Search Results
2. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
- Author
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Suerink, M, Rodríguez-Girondo, M, van der Klift, Hm, Colas, C, Brugieres, L, Lavoine, N, Jongmans, M, Munar, Gc, Evans, Dg, Farrell, Mp, Genuardi, Maurizio, Goldberg, Y, Gomez-Garcia, E, Heinimann, K, Hoell, Ji, Aretz, S, Jasperson, Kw, Kedar, I, Modi, Mb, Nikolaev, S, van Os, Tam, Ripperger, T, Rueda, D, Senter, L, Sjursen, W, Sunde, L, Therkildsen, C, Tibiletti, Mg, Trainer, Ah, Vos, Yj, Wagner, A, Winship, I, Wimmer, K, Zimmermann, Sy, Vasen, Hf, van Asperen, Cj, Houwing-Duistermaat, Jj, Ten Broeke, Sw, Nielsen, M, Genuardi M (ORCID:0000-0002-7410-8351), Suerink, M, Rodríguez-Girondo, M, van der Klift, Hm, Colas, C, Brugieres, L, Lavoine, N, Jongmans, M, Munar, Gc, Evans, Dg, Farrell, Mp, Genuardi, Maurizio, Goldberg, Y, Gomez-Garcia, E, Heinimann, K, Hoell, Ji, Aretz, S, Jasperson, Kw, Kedar, I, Modi, Mb, Nikolaev, S, van Os, Tam, Ripperger, T, Rueda, D, Senter, L, Sjursen, W, Sunde, L, Therkildsen, C, Tibiletti, Mg, Trainer, Ah, Vos, Yj, Wagner, A, Winship, I, Wimmer, K, Zimmermann, Sy, Vasen, Hf, van Asperen, Cj, Houwing-Duistermaat, Jj, Ten Broeke, Sw, Nielsen, M, and Genuardi M (ORCID:0000-0002-7410-8351)
- Abstract
PURPOSE: Biallelic pathogenic variants in the mismatch repair (MMR) genes cause a recessive childhood cancer predisposition syndrome known as constitutional mismatch repair deficiency (CMMRD). Family members with a heterozygous MMR variant have Lynch syndrome. We aimed at estimating cancer risk in these heterozygous carriers as a novel approach to avoid complicated statistical methods to correct for ascertainment bias. METHODS: Cumulative colorectal cancer incidence was estimated in a cohort of PMS2- and MSH6-associated families, ascertained by the CMMRD phenotype of the index, by using mutation probabilities based on kinship coefficients as analytical weights in a proportional hazard regression on the cause-specific hazards. Confidence intervals (CIs) were obtained by bootstrapping at the family level. RESULTS: The estimated cumulative colorectal cancer risk at age 70 years for heterozygous PMS2 variant carriers was 8.7% (95% CI 4.3-12.7%) for both sexes combined, and 9.9% (95% CI 4.9-15.3%) for men and 5.9% (95% CI 1.6-11.1%) for women separately. For heterozygous MSH6 variant carriers these estimates are 11.8% (95% CI 4.5-22.7%) for both sexes combined, 10.0% (95% CI 1.83-24.5%) for men and 11.7% (95% CI 2.10-26.5%) for women. CONCLUSION: Our findings are consistent with previous reports that used more complex statistical methods to correct for ascertainment bias. These results underline the need for MMR gene-specific surveillance protocols for Lynch syndrome.
- Published
- 2019
3. Diagnosis of Constitutional Mismatch Repair-deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
- Author
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Bodo, S., Colas, C., Buhard, O., Collura, A., Tinat, J., Lavoine, N., Guilloux, A., Chalastanis, A., Lafitte, P., Coulet, F., Buisine, M.P., Ilencikova, D., Ruiz-Ponte, C., Kinzel, M., Grandjouan, S., Brems, H.I., Lejeune, S., Blanche, H., Wang, Q., Caron, O., Cabaret, O., Syrcek, M.L., Vidaud, D., Parfait, B., Verloes, A., Knappe, U.J., Soubrier, F., Mortemousque, I., Leis, A., Auclair-Perrossier, J., Frebourg, T., Flejou, J.F., Entz-Werle, N., Leclerc, J., Malka, D., Cohen-Haguenauer, O., Goldberg, Y., Gerdes, A.M., Fedhila, F., Mathieu-Dramard, M., Lin, R.H., Wafaa, B., Gauthier-Villars, M., Bourdeaut, F., Sheridan, E., Vasen, H., Brugieres, L., Wimmer, K., Muleris, M., Duva, A., and European Consortium Care CMMRD
- Subjects
Male ,Heredity ,DNA Mutational Analysis ,Predisposition ,Bioinformatics ,PMS2 ,Lymphocytes ,Mismatch Repair Endonuclease PMS2 ,Adenosine Triphosphatases ,Tumor ,Colon Cancer ,Brain Neoplasms ,Gastroenterology ,Nuclear Proteins ,Lynch syndrome ,DNA-Binding Proteins ,MutS Homolog 2 Protein ,Phenotype ,DNA mismatch repair ,Female ,Microsatellite Instability ,Colorectal Neoplasms ,MutL Protein Homolog 1 ,Adult ,congenital, hereditary, and neonatal diseases and abnormalities ,Biology ,MLH1 ,Transfection ,Methylation ,Young Adult ,Germline mutation ,Neoplastic Syndromes, Hereditary ,Predictive Value of Tests ,medicine ,Biomarkers, Tumor ,Humans ,Genetic Predisposition to Disease ,Genetic Testing ,Antineoplastic Agents, Alkylating ,Germ-Line Mutation ,Adaptor Proteins, Signal Transducing ,Hepatology ,Microsatellite instability ,Reproducibility of Results ,medicine.disease ,Functional Tests ,HCT116 Cells ,Colorectal Neoplasms, Hereditary Nonpolyposis ,digestive system diseases ,MSH6 ,DNA Repair Enzymes ,MSH2 ,Drug Resistance, Neoplasm ,Case-Control Studies ,Cancer research ,Caco-2 Cells ,Multiplex Polymerase Chain Reaction - Abstract
Background & Aims Patients with bi-allelic germline mutations in mismatch repair (MMR) genes ( MLH1 , MSH2 , MSH6 , or PMS2 ) develop a rare but severe variant of Lynch syndrome called constitutional MMR deficiency (CMMRD). This syndrome is characterized by early-onset colorectal cancers, lymphomas or leukemias, and brain tumors. There is no satisfactory method for diagnosis of CMMRD because screens for mutations in MMR genes are noninformative for 30% of patients. MMR-deficient cancer cells are resistant to genotoxic agents and have microsatellite instability (MSI), due to accumulation of errors in repetitive DNA sequences. We investigated whether these features could be used to identify patients with CMMRD. Methods We examined MSI by PCR analysis and tolerance to methylating or thiopurine agents (functional characteristics of MMR-deficient tumor cells) in lymphoblastoid cells (LCs) from 3 patients with CMMRD and 5 individuals with MMR-proficient LCs (controls). Using these assays, we defined experimental parameters that allowed discrimination of a series of 14 patients with CMMRD from 52 controls (training set). We then used the same parameters to assess 23 patients with clinical but not genetic features of CMMRD. Results In the training set, we identified parameters, based on MSI and LC tolerance to methylation, that detected patients with CMMRD vs controls with 100% sensitivity and 100% specificity. Among 23 patients suspected of having CMMRD, 6 had MSI and LC tolerance to methylation (CMMRD highly probable), 15 had neither MSI nor LC tolerance to methylation (unlikely to have CMMRD), and 2 were considered doubtful for CMMRD based on having only 1 of the 2 features. Conclusion The presence of MSI and tolerance to methylation in LCs identified patients with CMMRD with 100% sensitivity and specificity. These features could be used in diagnosis of patients.
- Published
- 2015
4. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
- Author
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Inbal Kedar, Christi J. van Asperen, Jeanine J. Houwing-Duistermaat, Laurence Brugières, Sergey Nikolaev, Michael Farrell, Anja Wagner, D. Gareth Evans, Lone Sunde, Yael Goldberg, Mar Rodríguez-Girondo, Jessica I. Hoell, Katharina Wimmer, Karl Heinimann, Stefan Aretz, Maartje Nielsen, Heleen M. van der Klift, Maria Grazia Tibiletti, Tim Ripperger, Leigha Senter, Sanne W. ten Broeke, Wenche Sjursen, Encarna B. Gomez-Garcia, Stefanie Y. Zimmermann, Daniel Rueda, Marjolijn C.J. Jongmans, Noémie Lavoine, Ingrid Winship, Christina Therkildsen, Gabriel Capellá Munar, Chrystelle Colas, Alison H. Trainer, Kory Jasperson, Maurizio Genuardi, Theo A. M. van Os, Yvonne J. Vos, Mitul Modi, Hans F. A. Vasen, Manon Suerink, Suerink M., Rodriguez-Girondo M., van der Klift H.M., Colas C., Brugieres L., Lavoine N., Jongmans M., Munar G.C., Evans D.G., Farrell M.P., Genuardi M., Goldberg Y., Gomez-Garcia E., Heinimann K., Hoell J.I., Aretz S., Jasperson K.W., Kedar I., Modi M.B., Nikolaev S., van Os T.A.M., Ripperger T., Rueda D., Senter L., Sjursen W., Sunde L., Therkildsen C., Tibiletti M.G., Trainer A.H., Vos Y.J., Wagner A., Winship I., Wimmer K., Zimmermann S.Y., Vasen H.F., van Asperen C.J., Houwing-Duistermaat J.J., ten Broeke S.W., Nielsen M., Human Genetics, Clinical Genetics, Klinische Genetica, MUMC+: DA KG Polikliniek (9), and RS: GROW - R4 - Reproductive and Perinatal Medicine
- Subjects
Male ,Oncology ,MICROSATELLITE INSTABILITY ,Settore MED/03 - GENETICA MEDICA ,PHENOTYPE ,FAMILIES ,Cohort Studies ,Risk Factors ,PMS2 ,CRITERIA ,Genetics(clinical) ,Genetics (clinical) ,Mismatch Repair Endonuclease PMS2 ,Incidence ,Incidence (epidemiology) ,DNA MISMATCH REPAIR ,GERMLINE MUTATIONS ,Middle Aged ,Lynch syndrome ,DNA-Binding Proteins ,Cohort ,colon cancer risk ,Female ,Colorectal Neoplasms ,bMMRD ,Cohort study ,Adult ,medicine.medical_specialty ,HNPCC ,colorectal cancer ,FREQUENCY ,Risk Assessment ,BREAST ,AGE ,SDG 3 - Good Health and Well-being ,Internal medicine ,SURVEILLANCE ,medicine ,Humans ,Genetic Predisposition to Disease ,Germ-Line Mutation ,Aged ,business.industry ,Microsatellite instability ,MSH6 ,medicine.disease ,Colorectal Neoplasms, Hereditary Nonpolyposis ,Confidence interval ,Mutation ,business - Abstract
Purpose: Biallelic pathogenic variants in the mismatch repair (MMR) genes cause a recessive childhood cancer predisposition syndrome known as constitutional mismatch repair deficiency (CMMRD). Family members with a heterozygous MMR variant have Lynch syndrome. We aimed at estimating cancer risk in these heterozygous carriers as a novel approach to avoid complicated statistical methods to correct for ascertainment bias.Methods: Cumulative colorectal cancer incidence was estimated in a cohort of PMS2- and MSH6-associated families, ascertained by the CMMRD phenotype of the index, by using mutation probabilities based on kinship coefficients as analytical weights in a proportional hazard regression on the cause-specific hazards. Confidence intervals (CIs) were obtained by bootstrapping at the family level.Results: The estimated cumulative colorectal cancer risk at age 70 years for heterozygous PMS2 variant carriers was 8.7% (95% CI 4.3-12.7%) for both sexes combined, and 9.9% (95% CI 4.9-15.3%) for men and 5.9% (95% CI 1.6-11.1%) for women separately. For heterozygous MSH6 variant carriers these estimates are 11.8% (95% CI 4.5-22.7%) for both sexes combined, 10.0% (95% CI 1.83-24.5%) for men and 11.7% (95% CI 2.10-26.5%) for women.Conclusion: Our findings are consistent with previous reports that used more complex statistical methods to correct for ascertainment bias. These results underline the need for MMR gene-specific surveillance protocols for Lynch syndrome.
- Published
- 2019
5. Recent Advances in Functional Materials through Cellulose Nanofiber Templating.
- Author
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Lamm ME, Li K, Qian J, Wang L, Lavoine N, Newman R, Gardner DJ, Li T, Hu L, Ragauskas AJ, Tekinalp H, Kunc V, and Ozcan S
- Abstract
Advanced templating techniques have enabled delicate control of both nano- and microscale structures and have helped thrust functional materials into the forefront of society. Cellulose nanomaterials are derived from natural polymers and show promise as a templating source for advanced materials. Use of cellulose nanomaterials in templating combines nanoscale property control with sustainability, an attribute often lacking in other templating techniques. Use of cellulose nanofibers for templating has shown great promise in recent years, but previous reviews on cellulose nanomaterial templating techniques have not provided extensive analysis of cellulose nanofiber templating. Cellulose nanofibers display several unique properties, including mechanical strength, porosity, high water retention, high surface functionality, and an entangled fibrous network, all of which can dictate distinctive aspects in the final templated materials. Many applications exploit the unique aspects of templating with cellulose nanofibers that help control the final properties of the material, including, but not limited to, applications in catalysis, batteries, supercapacitors, electrodes, building materials, biomaterials, and membranes. A detailed analysis on the use of cellulose nanofibers templating is provided, addressing specifically how careful selection of templating mechanisms and methodologies, combined toward goal applications, can be used to directly benefit chosen applications in advanced functional materials., (© 2021 Wiley-VCH GmbH.)
- Published
- 2021
- Full Text
- View/download PDF
6. Design strategies, properties and applications of cellulose nanomaterials-enhanced products with residual, technical or nanoscale lignin-A review.
- Author
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Trovagunta R, Zou T, Österberg M, Kelley SS, and Lavoine N
- Subjects
- Anti-Infective Agents chemistry, Antioxidants chemistry, Biomass, Colloids, Humans, Cellulose chemistry, Green Chemistry Technology, Lignin chemistry, Nanostructures chemistry, Nanotechnology methods
- Abstract
With the increasing demand for greener alternatives to fossil-derived products, research on cellulose nanomaterials (CNMs) has rapidly expanded. The combination of nanoscale properties and sustainable attributes makes CNMs an asset in the quest for a sustainable society. However, challenges such as the hydrophilic nature of CNMs, their low compatibility with non-polar matrices and modest thermal stability, slow the development of end-uses. Combination of CNMs with amphiphilic lignin can improve the thermal stability, enhance the compatibility with non-polar matrices and, additionally, endow CNMs with new functionalities e.g., UV shielding or antioxidative properties. This article comprehensively reviews the different design strategies and their influence on properties and applications of CNMs containing lignin in various forms; either as residual lignin, added technical lignin, or nanoscale particles. The review focuses especially on the synergy created between CNMs and lignin, paving the way for new production routes and use of CNM/lignin materials in high-performance applications., (Copyright © 2020 Elsevier Ltd. All rights reserved.)
- Published
- 2021
- Full Text
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7. Structural reconstruction strategies for the design of cellulose nanomaterials and aligned wood cellulose-based functional materials - A review.
- Author
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Zhu Z, Fu S, Lavoine N, and Lucia LA
- Abstract
Cellulose is the world's most abundant natural polymer that displays highly desirable characteristics such as biodegradability and sustainability. Its derivatives and associated structured functional materials have potential in various fields such as surface engineering, energy and storage, water treatment, flexible electronics, construction, physical protection, and optical components. All of these applications demand nanocellulose-based micro/nano structural reconstruction for high performance. Recently, functional materials based on aligned nanocellulose in wood obtained through a top-down strategy have highlighted the importance of structure reconstruction strategies on functional designs. In this review, various cellulose or wood micro/nano materials designed by structure reconstruction were examined to highlight the importance of structure reconstruction strategies for various functionalities., (Copyright © 2020 Elsevier Ltd. All rights reserved.)
- Published
- 2020
- Full Text
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8. Reducing end modification on cellulose nanocrystals: strategy, characterization, applications and challenges.
- Author
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Tao H, Lavoine N, Jiang F, Tang J, and Lin N
- Abstract
Different from traditional chemical surface modification, localized modification of the reducing end groups of cellulose nanocrystals (CNCs), i.e. the active aldehyde groups, provides new opportunities for diverse functional applications of this renewable nanomaterial without altering its surface chemistry and properties. Numerous reviews have deeply discussed the surface modification of the hydroxyl groups of CNCs, but no critical comment has been reported on the reducing end modification approach. This review is a comprehensive summary on the modification of the CNC reducing end, presenting the reaction mechanisms and conditions, discussing the different chemical modification strategies and characterization techniques, potential applications and future challenges in this field. In addition, the comparison between surface and end modification strategies of CNCs will highlight the potential of reducing end-functionalized CNCs to be used in various applications as an alternative to traditional surface-modified CNCs, or as additional functional nanoparticles for the design of advanced functional materials.
- Published
- 2020
- Full Text
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9. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
- Author
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Suerink M, Rodríguez-Girondo M, van der Klift HM, Colas C, Brugieres L, Lavoine N, Jongmans M, Munar GC, Evans DG, Farrell MP, Genuardi M, Goldberg Y, Gomez-Garcia E, Heinimann K, Hoell JI, Aretz S, Jasperson KW, Kedar I, Modi MB, Nikolaev S, van Os TAM, Ripperger T, Rueda D, Senter L, Sjursen W, Sunde L, Therkildsen C, Tibiletti MG, Trainer AH, Vos YJ, Wagner A, Winship I, Wimmer K, Zimmermann SY, Vasen HF, van Asperen CJ, Houwing-Duistermaat JJ, Ten Broeke SW, and Nielsen M
- Subjects
- Adult, Aged, Cohort Studies, Colorectal Neoplasms, Hereditary Nonpolyposis genetics, Colorectal Neoplasms, Hereditary Nonpolyposis metabolism, DNA Mismatch Repair, DNA-Binding Proteins genetics, DNA-Binding Proteins metabolism, Female, Genetic Predisposition to Disease genetics, Germ-Line Mutation, Humans, Incidence, Male, Middle Aged, Mismatch Repair Endonuclease PMS2 genetics, Mismatch Repair Endonuclease PMS2 metabolism, Mutation, Risk Factors, Colorectal Neoplasms etiology, Colorectal Neoplasms, Hereditary Nonpolyposis complications, Risk Assessment methods
- Abstract
Purpose: Biallelic pathogenic variants in the mismatch repair (MMR) genes cause a recessive childhood cancer predisposition syndrome known as constitutional mismatch repair deficiency (CMMRD). Family members with a heterozygous MMR variant have Lynch syndrome. We aimed at estimating cancer risk in these heterozygous carriers as a novel approach to avoid complicated statistical methods to correct for ascertainment bias., Methods: Cumulative colorectal cancer incidence was estimated in a cohort of PMS2- and MSH6-associated families, ascertained by the CMMRD phenotype of the index, by using mutation probabilities based on kinship coefficients as analytical weights in a proportional hazard regression on the cause-specific hazards. Confidence intervals (CIs) were obtained by bootstrapping at the family level., Results: The estimated cumulative colorectal cancer risk at age 70 years for heterozygous PMS2 variant carriers was 8.7% (95% CI 4.3-12.7%) for both sexes combined, and 9.9% (95% CI 4.9-15.3%) for men and 5.9% (95% CI 1.6-11.1%) for women separately. For heterozygous MSH6 variant carriers these estimates are 11.8% (95% CI 4.5-22.7%) for both sexes combined, 10.0% (95% CI 1.83-24.5%) for men and 11.7% (95% CI 2.10-26.5%) for women., Conclusion: Our findings are consistent with previous reports that used more complex statistical methods to correct for ascertainment bias. These results underline the need for MMR gene-specific surveillance protocols for Lynch syndrome.
- Published
- 2019
- Full Text
- View/download PDF
10. Active bio-based food-packaging: Diffusion and release of active substances through and from cellulose nanofiber coating toward food-packaging design.
- Author
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Lavoine N, Guillard V, Desloges I, Gontard N, and Bras J
- Subjects
- Anti-Bacterial Agents chemistry, Anti-Bacterial Agents pharmacology, Caffeine chemistry, Cellulose pharmacology, Diffusion, Water chemistry, Cellulose chemistry, Drug Liberation, Food Packaging methods, Nanofibers chemistry
- Abstract
Cellulose nanofibers (CNFs) were recently investigated for the elaboration of new functional food-packaging materials. Their nanoporous network was especially of interest for controlling the release of active species. Qualitative release studies were conducted, but quantification of the diffusion phenomenon observed when the active species are released from and through CNF coating has not yet been studied. Therefore, this work aims to model CNF-coated paper substrates as controlled release system for food-packaging using release data obtained for two model molecules, namely caffeine and chlorhexidine digluconate. The applied mathematical model - derived from Fickian diffusion - was validated for caffeine only. When the active species chemically interacts with the release device, another model is required as a non-predominantly diffusion-controlled release was observed. From caffeine modeling data, a theoretical active food-packaging material was designed. The use of CNFs as barrier coating was proved to be the ideal material configuration that best meets specifications., (Copyright © 2016. Published by Elsevier Ltd.)
- Published
- 2016
- Full Text
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11. Improvement of the Thermal Stability of TEMPO-Oxidized Cellulose Nanofibrils by Heat-Induced Conversion of Ionic Bonds to Amide Bonds.
- Author
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Lavoine N, Bras J, Saito T, and Isogai A
- Subjects
- Hot Temperature, Ions chemistry, Oxidation-Reduction, Amides chemistry, Cellulose chemistry, Cyclic N-Oxides chemistry, Nanofibers chemistry, Temperature
- Abstract
Improving thermal stability of TEMPO-oxidized cellulose nanofibrils (TOCNs) is a major challenge for the development and preparation of new nanocomposites. However, thermal degradation of TOCNs occurs at 220 °C. The present study reports a simple way to improve thermal stability of TOCNs by the heat-induced conversion of ionic bonds to amide bonds. Coupling amine-terminated polyethylene glycol to the TOCNs is performed through ionic bond formation. Films are produced from the dispersions by the casting method. Infrared spectroscopy and thermogravimetric analysis confirm conversion of ionic bonds to amide bonds for the modified TOCN samples after heating. As a result, improvement of TOCNs' thermal stability by up to 90 °C is successfully achieved., (© 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.)
- Published
- 2016
- Full Text
- View/download PDF
12. Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
- Author
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Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, Brems H, Lejeune S, Blanché H, Wang Q, Caron O, Cabaret O, Svrcek M, Vidaud D, Parfait B, Verloes A, Knappe UJ, Soubrier F, Mortemousque I, Leis A, Auclair-Perrossier J, Frébourg T, Fléjou JF, Entz-Werle N, Leclerc J, Malka D, Cohen-Haguenauer O, Goldberg Y, Gerdes AM, Fedhila F, Mathieu-Dramard M, Hamelin R, Wafaa B, Gauthier-Villars M, Bourdeaut F, Sheridan E, Vasen H, Brugières L, Wimmer K, Muleris M, and Duval A
- Subjects
- Adaptor Proteins, Signal Transducing genetics, Adenosine Triphosphatases genetics, Adult, Brain Neoplasms drug therapy, Brain Neoplasms genetics, Brain Neoplasms metabolism, Brain Neoplasms pathology, Caco-2 Cells, Case-Control Studies, Colorectal Neoplasms drug therapy, Colorectal Neoplasms genetics, Colorectal Neoplasms metabolism, Colorectal Neoplasms pathology, Colorectal Neoplasms, Hereditary Nonpolyposis drug therapy, Colorectal Neoplasms, Hereditary Nonpolyposis genetics, Colorectal Neoplasms, Hereditary Nonpolyposis metabolism, Colorectal Neoplasms, Hereditary Nonpolyposis pathology, DNA Mutational Analysis, DNA Repair Enzymes genetics, DNA-Binding Proteins genetics, Female, Genetic Predisposition to Disease, HCT116 Cells, Heredity, Humans, Lymphocytes metabolism, Male, Methylation, Mismatch Repair Endonuclease PMS2, Multiplex Polymerase Chain Reaction, MutL Protein Homolog 1, MutS Homolog 2 Protein genetics, Neoplastic Syndromes, Hereditary drug therapy, Neoplastic Syndromes, Hereditary genetics, Neoplastic Syndromes, Hereditary metabolism, Neoplastic Syndromes, Hereditary pathology, Nuclear Proteins genetics, Phenotype, Predictive Value of Tests, Reproducibility of Results, Transfection, Young Adult, Antineoplastic Agents, Alkylating therapeutic use, Biomarkers, Tumor genetics, Brain Neoplasms diagnosis, Colorectal Neoplasms diagnosis, Colorectal Neoplasms, Hereditary Nonpolyposis diagnosis, Drug Resistance, Neoplasm, Genetic Testing methods, Germ-Line Mutation, Lymphocytes drug effects, Microsatellite Instability, Neoplastic Syndromes, Hereditary diagnosis
- Abstract
Background & Aims: Patients with bi-allelic germline mutations in mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2) develop a rare but severe variant of Lynch syndrome called constitutional MMR deficiency (CMMRD). This syndrome is characterized by early-onset colorectal cancers, lymphomas or leukemias, and brain tumors. There is no satisfactory method for diagnosis of CMMRD because screens for mutations in MMR genes are noninformative for 30% of patients. MMR-deficient cancer cells are resistant to genotoxic agents and have microsatellite instability (MSI), due to accumulation of errors in repetitive DNA sequences. We investigated whether these features could be used to identify patients with CMMRD., Methods: We examined MSI by PCR analysis and tolerance to methylating or thiopurine agents (functional characteristics of MMR-deficient tumor cells) in lymphoblastoid cells (LCs) from 3 patients with CMMRD and 5 individuals with MMR-proficient LCs (controls). Using these assays, we defined experimental parameters that allowed discrimination of a series of 14 patients with CMMRD from 52 controls (training set). We then used the same parameters to assess 23 patients with clinical but not genetic features of CMMRD., Results: In the training set, we identified parameters, based on MSI and LC tolerance to methylation, that detected patients with CMMRD vs controls with 100% sensitivity and 100% specificity. Among 23 patients suspected of having CMMRD, 6 had MSI and LC tolerance to methylation (CMMRD highly probable), 15 had neither MSI nor LC tolerance to methylation (unlikely to have CMMRD), and 2 were considered doubtful for CMMRD based on having only 1 of the 2 features., Conclusion: The presence of MSI and tolerance to methylation in LCs identified patients with CMMRD with 100% sensitivity and specificity. These features could be used in diagnosis of patients., (Copyright © 2015 AGA Institute. Published by Elsevier Inc. All rights reserved.)
- Published
- 2015
- Full Text
- View/download PDF
13. Modeling of caffeine release from a cellulosic substrate coated with microfibrillated cellulose.
- Author
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Lavoine N, Guillard V, Desloges I, Gontard N, and Bras J
- Published
- 2015
- Full Text
- View/download PDF
14. Antibacterial paperboard packaging using microfibrillated cellulose.
- Author
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Lavoine N, Desloges I, Manship B, and Bras J
- Abstract
The industry and consumers are focusing more and more on the development of biodegradable and lightweight food-packaging materials, which could better preserve the quality of the food and improve its shelf-life. In an attempt to meet these requirements, this study presents a novel bio-substrate able to contain active bio-molecules for future food-packaging applications. Based on a paperboard substrate, the development of an antibacterial bio-packaging material is, therein, achieved using a chlorhexidine digluconate (CHX) solution as a model of an antibacterial molecule, mixed with microfibrillated cellulose (MFC) and used as coating onto paperboard samples. AFM and FE-SEM analyses were performed to underline the nanoporous MFC network able to trap and to progressively release the CHX molecules. The release study of CHX was conducted in an aqueous medium and showed a lower proportion (20 %) of CHX released when using MFC. This led to the constant release of low amounts of CHX over 40 h. Antibacterial tests were carried out to assess the preservation of the antibacterial activity of the samples after the release studies. Samples remained active against Bacillus subtilis, with better results being obtained when MFC was used. The preservation of the quality of a model food was finally evaluated paving the way for future promising applications in the food packaging industry.
- Published
- 2015
- Full Text
- View/download PDF
15. An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report.
- Author
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Daou B, Zanello M, Varlet P, Brugieres L, Jabbour P, Caron O, Lavoine N, Dhermain F, Willekens C, Beuvon F, Malka D, Lechapt-Zalcmann E, and Abi Lahoud G
- Subjects
- Adenocarcinoma etiology, Brain Neoplasms complications, Colonic Neoplasms etiology, Female, Humans, Leukemia, Myeloid, Acute etiology, Neurofibromatosis 1 etiology, Young Adult, Bone Neoplasms etiology, Brain Neoplasms etiology, Colorectal Neoplasms complications, Ganglioglioma etiology, Neoplastic Syndromes, Hereditary complications, Osteosarcoma etiology
- Abstract
Background and Importance: Constitutional mismatch repair deficiency (CMMRD) syndrome is a disorder with recessive inheritance caused by biallelic mismatch repair gene mutations, in which mismatch repair defects are inherited from both parents. This syndrome is associated with multiple cancers occurring in childhood. The most common tumors observed with CMMRD include brain tumors, digestive tract tumors, and hematological malignancies. The aim of this study was to report new phenotypic expressions of CMMRD syndrome and add new insight to the existing knowledge about this disease. A review of the literature was conducted and recommendation for surveillance and follow-up in patients with CMMRD are proposed., Clinical Presentation: We report for the first time in the literature, the case of a 22-year-old female patient who was diagnosed with CMMRD syndrome, with the development of 2 unusual tumors: an anaplastic ganglioglioma and an osteosarcoma. She presented initially with an anaplastic ganglioglioma and later developed several malignancies including colonic adenocarcinoma, osteosarcoma, and acute myeloid leukemia. The patient had an atypical course of her disease with development of the initial malignancy at an older age and a remarkably long survival period despite developing aggressive tumors., Conclusion: Many aspects of this disease are still unknown. We identified a case of CMMRD in a patient presenting with an anaplastic ganglioglioma, who underwent successful surgical resection, chemotherapy, and radiotherapy and has had one of the longest survival periods known with this disease. This case broadens the tumor spectrum observed with CMMRD syndrome with anaplastic ganglioglioma and osteosarcoma as new phenotypic expressions of this genetic defect.
- Published
- 2015
- Full Text
- View/download PDF
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