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  1. Article ; Online: E.L., a modern-day Phineas Gage: Revisiting frontal lobe injury.

    de Freitas, Pedro H M / Monteiro, Ruy C / Bertani, Raphael / Perret, Caio M / Rodrigues, Pedro C / Vicentini, Joana / de Morais, Tagore M Gonzalez / Rozental, Stefano F A / Galvão, Gustavo F / de Mattos, Fabricio / Vasconcelos, Fernando A / Dorio, Ivan S / Hayashi, Cintya Y / Dos Santos, Jorge R L / Werneck, Guilherme L / Tocquer, Carla T Ferreira / Capitão, Claudia / da Cruz, Luiz C Hygino / Tulviste, Jaan /
    Fiorani, Mario / da Silva, Marcos M / Paiva, Wellingson S / Podell, Kenneth / Federoff, Howard J / Patel, Divyen H / Lado, Fred / Goldberg, Elkhonon / Llinás, Rodolfo / Bennett, Michael V L / Rozental, Renato

    Lancet regional health. Americas

    2022  Volume 14, Page(s) 100340

    Abstract: ... In this 9-year prospective longitudinal study (08/2012-2021), we collected data from the patient E.L ... dysfunctions and compare E.L.´s disorders to that attributed to Gage (1848), a landmark in the history ... over E.L.'s healthy hemisphere, disrupted the modulation of contralateral LFO, disturbing behaviour and ...

    Abstract Background: How the prefrontal cortex (PFC) recovers its functionality following lesions remains a conundrum. Recent work has uncovered the importance of transient low-frequency oscillatory activity (LFO; < 4 Hz) for the recovery of an injured brain. We aimed to determine whether persistent cortical oscillatory dynamics contribute to brain capability to support 'normal life' following injury.
    Methods: In this 9-year prospective longitudinal study (08/2012-2021), we collected data from the patient E.L., a modern-day Phineas Gage, who suffered from lesions, impacting 11% of his total brain mass, to his right PFC and supplementary motor area after his skull was transfixed by an iron rod. A systematic evaluation of clinical, electrophysiologic, brain imaging, neuropsychological and behavioural testing were used to clarify the clinical significance of relationship between LFO discharge and executive dysfunctions and compare E.L.´s disorders to that attributed to Gage (1848), a landmark in the history of neurology and neuroscience.
    Findings: Selective recruitment of the non-injured left hemisphere during execution of unimanual right-hand movements resulted in the emergence of robust LFO, an EEG-detected marker for disconnection of brain areas, in the damaged right hemisphere. In contrast, recruitment of the damaged right hemisphere during contralateral hand movement, resulted in the co-activation of the left hemisphere and decreased right hemisphere LFO to levels of controls enabling performance, suggesting a target for neuromodulation. Similarly, transcranial magnetic stimulation (TMS), used to create a temporary virtual-lesion over E.L.'s healthy hemisphere, disrupted the modulation of contralateral LFO, disturbing behaviour and impairing executive function tasks. In contrast to Gage, reasoning, planning, working memory, social, sexual and family behaviours eluded clinical inspection by decreasing LFO in the delta frequency range during motor and executive functioning.
    Interpretation: Our study suggests that modulation of LFO dynamics is an important mechanism by which PFC accommodates neurological injuries, supporting the reports of Gage´s recovery, and represents an attractive target for therapeutic interventions.
    Funding: Fundação de Amparo Pesquisa Rio de Janeiro (FAPERJ), Universidade Federal do Rio de Janeiro (intramural), and Fiocruz/Ministery of Health (INOVA Fiocruz).
    Language English
    Publishing date 2022-08-11
    Publishing country England
    Document type Journal Article
    ISSN 2667-193X
    ISSN (online) 2667-193X
    DOI 10.1016/j.lana.2022.100340
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.

    Lee, Danyel / Le Pen, Jérémie / Yatim, Ahmad / Dong, Beihua / Aquino, Yann / Ogishi, Masato / Pescarmona, Rémi / Talouarn, Estelle / Rinchai, Darawan / Zhang, Peng / Perret, Magali / Liu, Zhiyong / Jordan, Iolanda / Elmas Bozdemir, Sefika / Bayhan, Gulsum Iclal / Beaufils, Camille / Bizien, Lucy / Bisiaux, Aurelie / Lei, Weite /
    Hasan, Milena / Chen, Jie / Gaughan, Christina / Asthana, Abhishek / Libri, Valentina / Luna, Joseph M / Jaffré, Fabrice / Hoffmann, H-Heinrich / Michailidis, Eleftherios / Moreews, Marion / Seeleuthner, Yoann / Bilguvar, Kaya / Mane, Shrikant / Flores, Carlos / Zhang, Yu / Arias, Andrés A / Bailey, Rasheed / Schlüter, Agatha / Milisavljevic, Baptiste / Bigio, Benedetta / Le Voyer, Tom / Materna, Marie / Gervais, Adrian / Moncada-Velez, Marcela / Pala, Francesca / Lazarov, Tomi / Levy, Romain / Neehus, Anna-Lena / Rosain, Jérémie / Peel, Jessica / Chan, Yi-Hao / Morin, Marie-Paule / Pino-Ramirez, Rosa Maria / Belkaya, Serkan / Lorenzo, Lazaro / Anton, Jordi / Delafontaine, Selket / Toubiana, Julie / Bajolle, Fanny / Fumadó, Victoria / DeDiego, Marta L / Fidouh, Nadhira / Rozenberg, Flore / Pérez-Tur, Jordi / Chen, Shuibing / Evans, Todd / Geissmann, Frédéric / Lebon, Pierre / Weiss, Susan R / Bonnet, Damien / Duval, Xavier / Pan-Hammarström, Qiang / Planas, Anna M / Meyts, Isabelle / Haerynck, Filomeen / Pujol, Aurora / Sancho-Shimizu, Vanessa / Dalgard, Clifford L / Bustamante, Jacinta / Puel, Anne / Boisson-Dupuis, Stéphanie / Boisson, Bertrand / Maniatis, Tom / Zhang, Qian / Bastard, Paul / Notarangelo, Luigi / Béziat, Vivien / Perez de Diego, Rebeca / Rodriguez-Gallego, Carlos / Su, Helen C / Lifton, Richard P / Jouanguy, Emmanuelle / Cobat, Aurélie / Alsina, Laia / Keles, Sevgi / Haddad, Elie / Abel, Laurent / Belot, Alexandre / Quintana-Murci, Lluis / Rice, Charles M / Silverman, Robert H / Zhang, Shen-Ying / Casanova, Jean-Laurent

    Science (New York, N.Y.)

    2023  Volume 379, Issue 6632, Page(s) eabo3627

    Abstract: Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies ... ...

    Abstract Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of
    MeSH term(s) Child ; Humans ; COVID-19/immunology ; Cytokines/genetics ; Cytokines/immunology ; Endoribonucleases/genetics ; Endoribonucleases/metabolism ; RNA, Double-Stranded ; SARS-CoV-2/genetics ; Systemic Inflammatory Response Syndrome/genetics
    Chemical Substances Cytokines ; Endoribonucleases (EC 3.1.-) ; RNA, Double-Stranded ; OAS1 protein, human (EC 2.7.7.-) ; OAS2 protein, human (EC 2.7.7.-) ; 2-5A-dependent ribonuclease (EC 3.1.26.-) ; MAVS protein, human
    Language English
    Publishing date 2023-02-10
    Publishing country United States
    Document type Journal Article
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.abo3627
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: E.L., a modern-day Phineas Gage

    Pedro H.M. de Freitas / Ruy C. Monteiro / Raphael M. Bertani / Caio M. Perret / Pedro C. Rodrigues / Joana Vicentini / Tagore M. Gonzalez de Morais / Stefano F.A. Rozental / Gustavo F. Galvão / Fabricio de Mattos / Fernando A. Vasconcelos / Ivan S. Dorio / Cintya Y. Hayashi / Jorge R.L. dos Santos / Guilherme L. Werneck / Carla T. Ferreira Tocquer / Claudia Capitão / Luiz C. Hygino da Cruz, Jr / Jaan Tulviste /
    Mario Fiorani / Marcos M. da Silva / Wellingson S. Paiva / Kenneth Podell / Howard J. Federoff / Divyen H. Patel / Fred Lado / Elkhonon Goldberg / Rodolfo Llinás / Michael V.L. Bennett / Renato Rozental

    The Lancet Regional Health. Americas, Vol 14, Iss , Pp 100340- (2022)

    Revisiting frontal lobe injury

    2022  

    Abstract: ... E.L., a modern-day Phineas Gage, who suffered from lesions, impacting 11% of his total brain mass ... dysfunctions and compare E.L.´s disorders to that attributed to Gage (1848), a landmark in the history ... over E.L.’s healthy hemisphere, disrupted the modulation of contralateral LFO, disturbing behaviour and ...

    Abstract Summary: Background: How the prefrontal cortex (PFC) recovers its functionality following lesions remains a conundrum. Recent work has uncovered the importance of transient low-frequency oscillatory activity (LFO; < 4 Hz) for the recovery of an injured brain. We aimed to determine whether persistent cortical oscillatory dynamics contribute to brain capability to support ‘normal life’ following injury. Methods: In this 9-year prospective longitudinal study (08/2012-2021), we collected data from the patient E.L., a modern-day Phineas Gage, who suffered from lesions, impacting 11% of his total brain mass, to his right PFC and supplementary motor area after his skull was transfixed by an iron rod. A systematic evaluation of clinical, electrophysiologic, brain imaging, neuropsychological and behavioural testing were used to clarify the clinical significance of relationship between LFO discharge and executive dysfunctions and compare E.L.´s disorders to that attributed to Gage (1848), a landmark in the history of neurology and neuroscience. Findings: Selective recruitment of the non-injured left hemisphere during execution of unimanual right-hand movements resulted in the emergence of robust LFO, an EEG-detected marker for disconnection of brain areas, in the damaged right hemisphere. In contrast, recruitment of the damaged right hemisphere during contralateral hand movement, resulted in the co-activation of the left hemisphere and decreased right hemisphere LFO to levels of controls enabling performance, suggesting a target for neuromodulation. Similarly, transcranial magnetic stimulation (TMS), used to create a temporary virtual-lesion over E.L.’s healthy hemisphere, disrupted the modulation of contralateral LFO, disturbing behaviour and impairing executive function tasks. In contrast to Gage, reasoning, planning, working memory, social, sexual and family behaviours eluded clinical inspection by decreasing LFO in the delta frequency range during motor and executive functioning. Interpretation: Our study suggests ...
    Keywords Traumatic brain injury (TBI) ; Phineas Gage ; Prefrontal cortex (PFC) ; Corpus callosum (C.C.) ; Magnetic Resonance Imaging (MRI) ; Neuropsychological tests ; Public aspects of medicine ; RA1-1270
    Subject code 150
    Language English
    Publishing date 2022-10-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: Former à la notion de réseau par la conception et l’interprétation

    Florian Harmand / Arthur Perret

    Humanités Numériques, Vol

    l’atelier Reticulum

    2022  Volume 5

    Abstract: This paper describes the Reticulum workshop, a teaching experiment focused on the concept of network, involving students from two master’s courses (design and digital humanities). The workshop takes up the characteristics of the Reticulum conference ... ...

    Abstract This paper describes the Reticulum workshop, a teaching experiment focused on the concept of network, involving students from two master’s courses (design and digital humanities). The workshop takes up the characteristics of the Reticulum conference cycle: interdisciplinary, interprofessional, intergenerational, intersecting knowledge and know-how. We present our approach as research-based teaching (with collaborative experimentation and knowledge production) and teaching-based research (with a study of conceptual pathways, technical choices and design mechanics). We analyse the workshop and its traces in order to show that the experiment is viable and reproducible; we examine the appropriation of the different techniques used during the workshop, and explain the underlying logics; finally, we describe the importance of modeling and visualising for reflective work, distinguishing between actual connectivity and interpretative connectivity.
    Keywords information and communication sciences ; design ; network analysis ; data visualisation ; reflexivity ; History of scholarship and learning. The humanities ; AZ20-999
    Subject code 020
    Language French
    Publishing date 2022-06-01T00:00:00Z
    Publisher OpenEdition
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Characterization of l-Carnitine Metabolism in Sinorhizobium meliloti.

    Bazire, Pascal / Perchat, Nadia / Darii, Ekaterina / Lechaplais, Christophe / Salanoubat, Marcel / Perret, Alain

    Journal of bacteriology

    2019  Volume 201, Issue 7

    Abstract: l-Carnitine is a trimethylammonium compound mostly known for its contribution to fatty acid ... as a carbon source. l-Carnitine can be formed directly by GBB hydroxylation or synthesized via a biosynthetic ... characterized. In this work, we identified by gene context analysis a cluster of l-carnitine anabolic genes next ...

    Abstract l-Carnitine is a trimethylammonium compound mostly known for its contribution to fatty acid transport into mitochondria. In bacteria, it is synthesized from γ-butyrobetaine (GBB) and can be used as a carbon source. l-Carnitine can be formed directly by GBB hydroxylation or synthesized via a biosynthetic route analogous to fatty acid degradation. However, this multistep pathway has not been experimentally characterized. In this work, we identified by gene context analysis a cluster of l-carnitine anabolic genes next to those involved in its catabolism and proceeded to the complete
    MeSH term(s) Aerobiosis ; Betaine/analogs & derivatives ; Betaine/metabolism ; Biotransformation ; Carnitine/metabolism ; Metabolic Networks and Pathways/genetics ; Metabolomics ; Multigene Family ; Sinorhizobium meliloti/genetics ; Sinorhizobium meliloti/metabolism
    Chemical Substances Betaine (3SCV180C9W) ; gamma-butyrobetaine (407-64-7) ; Carnitine (S7UI8SM58A)
    Language English
    Publishing date 2019-03-13
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2968-3
    ISSN 1098-5530 ; 0021-9193
    ISSN (online) 1098-5530
    ISSN 0021-9193
    DOI 10.1128/JB.00772-18
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: La biodiversité à l’épreuve des choix d’aménagement

    CALVET, Coralie / DELBAR, Vincent / CHAPRON, Paul / BRASEBIN, Mickaël / PERRET, Julien

    Sciences, Eaux & Territoires, Vol 2020, Iss 31, Pp 24-

    une approche par la modélisation appliquée à la Région Occitanie

    2020  Volume 31

    Abstract: ... les difficultés pratiques auxquelles se heurte l’application de la séquence Éviter-Réduire-Compenser (ERC ... a élaboré une méthodologie et des outils afin de mieux anticiper et planifier l’application ... de la séquence ERC à l’échelle régionale. ...

    Abstract Le manque de vision et de coordination territoriales est souvent mis en cause pour expliquer les difficultés pratiques auxquelles se heurte l’application de la séquence Éviter-Réduire-Compenser (ERC) en France. C’est dans ce contexte et en accompagnement des acteurs territoriaux et des élus locaux de la région Occitanie, qu’une équipe de recherche interdisciplinaire, mêlant économie, géographie et écologie, a élaboré une méthodologie et des outils afin de mieux anticiper et planifier l’application de la séquence ERC à l’échelle régionale.
    Keywords sequence erc ; compensation ecologique ; amenagement du territoire ; biodiversite ; modelisation ; Environmental technology. Sanitary engineering ; TD1-1066 ; Environmental sciences ; GE1-350
    Language French
    Publishing date 2020-01-01T00:00:00Z
    Publisher Institut national de recherche pour l’agriculture, l’alimentation et l’environnement (INRAE)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article: Naturalized distributions show that climatic disequilibrium is structured by niche size in pines (Pinus L.)

    Perret, Daniel L / Andrew B. Leslie / Dov F. Sax

    Global ecology and biogeography. 2019 Apr., v. 28, no. 4

    2019  

    Abstract: ... METHODS: We built climatic niche models for 106 pine (Pinus L.) species, including 25 that have ...

    Abstract AIM: The assumption that the native distributions of species are in equilibrium with climate has been shown to be frequently violated, despite its centrality to many niche model applications. We currently lack a framework that predicts these violations. Here, we examine whether variation in climatic disequilibrium is structured by properties of species’ native distributions and climatic niches. LOCATION: Global. METHODS: We built climatic niche models for 106 pine (Pinus L.) species, including 25 that have naturalized outside their native range. We measured the extent of climate space occupied exclusively by naturalized populations and considered what fraction of this space was available within the native continent and near the native range. We examined the consequences of disequilibrium for estimates of potential range filling and sister species niche conservatism. RESULTS: Most species (23 of 25) have naturalized in climate conditions outside the native niche, leading to increases in the total known suitable climate space. Increases in niche size were negatively related to native niche size. Increases were often large; one species expanded its niche by almost 10% of the global climate space. These increases were associated primarily with cooler, wetter and less seasonal climates. Increases in known niche size lowered potential range filling estimates within species’ native continent and ecoregion. Naturalized data did not strengthen support for niche conservatism among sister species. MAIN CONCLUSIONS: Among pines, climatic disequilibrium is the norm and not the exception. The magnitude of this disequilibrium can be vast, such that the native range greatly under‐represents the true climatic tolerances of some species. Fortunately, this disequilibrium can be predicted largely by the size of a species’ native niche. Accounting for this disequilibrium can improve our ability to characterize ecological phenomena, including potential range filling. This is an essential step towards improving the conservation value of ecological niche models.
    Keywords Pinus ; climatic factors ; ecoregions ; models ; niches
    Language English
    Dates of publication 2019-04
    Size p. 429-441.
    Publishing place John Wiley & Sons, Ltd
    Document type Article
    Note JOURNAL ARTICLE
    ZDB-ID 2021283-5
    ISSN 1466-8238 ; 1466-822X ; 0960-7447
    ISSN (online) 1466-8238
    ISSN 1466-822X ; 0960-7447
    DOI 10.1111/geb.12862
    Database NAL-Catalogue (AGRICOLA)

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  8. Article ; Online: Mesure de la dégradation bio-mécanique d’une fibre d’ADN sous l’effet des rayons X thérapeutiques.

    Perret, Grégoire / Lacornerie, Thomas / Manca, Fabio / Giordano, Stefano / Kumemura, Momoko / Lafitte, Nicolas / Jalabert, Laurent / Tarhan, Mehmet C / Lartigau, Eric F / Cleri, Fabrizio / Fujita, Hiroyuki / Collard, Dominique

    Medecine sciences : M/S

    2017  Volume 33, Issue 12, Page(s) 1026–1029

    Title translation Measure of the biomechanical degradation of a DNA fiber under the influence of therapeutic X-rays.
    MeSH term(s) Animals ; DNA/chemistry ; DNA/radiation effects ; DNA Damage ; Humans ; Radiosurgery/adverse effects ; Radiosurgery/instrumentation ; Stress, Mechanical ; X-Ray Therapy/adverse effects ; X-Rays/adverse effects
    Chemical Substances DNA (9007-49-2)
    Language French
    Publishing date 2017-12-20
    Publishing country France
    Document type News
    ZDB-ID 632733-3
    ISSN 1958-5381 ; 0767-0974
    ISSN (online) 1958-5381
    ISSN 0767-0974
    DOI 10.1051/medsci/20173312003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Quantitative evaluation of the cell penetrating properties of an iodinated Tyr-L-maurocalcine analog.

    Tisseyre, Céline / Ahmadi, Mitra / Bacot, Sandrine / Dardevet, Lucie / Perret, Pascale / Ronjat, Michel / Fagret, Daniel / Usson, Yves / Ghezzi, Catherine / De Waard, Michel

    Biochimica et biophysica acta

    2014  Volume 1843, Issue 10, Page(s) 2356–2364

    Abstract: L-Maurocalcine (L-MCa) is the first reported animal cell-penetrating toxin. Characterizing its cell ... of a molecule of interest. An L-MCa analog containing an additional N-terminal tyrosine residue (Tyr-L-MCa) was ... synthesized, shown to fold and oxidize properly, and successfully radioiodinated to (125)I-Tyr-L-MCa. Using ...

    Abstract L-Maurocalcine (L-MCa) is the first reported animal cell-penetrating toxin. Characterizing its cell penetration properties is crucial considering its potential as a vector for the intracellular delivery of drugs. Radiolabeling is a sensitive and quantitative method to follow the cell accumulation of a molecule of interest. An L-MCa analog containing an additional N-terminal tyrosine residue (Tyr-L-MCa) was synthesized, shown to fold and oxidize properly, and successfully radioiodinated to (125)I-Tyr-L-MCa. Using various microscopy techniques, the average volume of the rat line F98 glioma cells was evaluated at 8.9 to 18.9×10(-7)μl. (125)I-Tyr-L-MCa accumulates within cells with a dose-dependency similar to the one previously published using 5,6-carboxyfluorescein-L-MCa. According to subcellular fractionation of F98 cells, plasma membranes keep less than 3% of the peptide, regardless of the extracellular concentration, while the nucleus accumulates over 75% and the cytosol around 20% of the radioactive material. Taking into account both nuclear and cytosolic fractions, cells accumulate intracellular concentrations of the peptide that are equal to the extracellular concentrations. Estimation of (125)I-Tyr-L-MCa cell entry kinetics indicate a first rapid phase with a 5min time constant for the plasma membrane followed by slower processes for the cytoplasm and the nucleus. Once inside cells, the labeled material no longer escapes from the intracellular environment since 90% of the radioactivity remains 24h after washout. Dead cells were found to have a lower uptake than live ones. The quantitative information gained herein will be useful for better framing the use of L-MCa in biotechnological applications. This article is part of a Special Issue entitled: Calcium Signaling in Health and Disease. Guest Editors: Geert Bultynck, Jacques Haiech, Claus W. Heizmann, Joachim Krebs, and Marc Moreau.
    MeSH term(s) Amino Acid Sequence ; Animals ; Biological Transport ; Cell Line, Tumor ; Cell Membrane/metabolism ; Cell Membrane Permeability ; Cell Nucleus/metabolism ; Cell Size ; Cell-Penetrating Peptides/chemical synthesis ; Cell-Penetrating Peptides/metabolism ; Cytosol/metabolism ; Drug Carriers ; Iodine Radioisotopes ; Kinetics ; Models, Molecular ; Molecular Sequence Data ; Protein Folding ; Rats ; Scorpion Venoms/chemical synthesis ; Scorpion Venoms/metabolism ; Solid-Phase Synthesis Techniques ; Tyrosine/chemistry
    Chemical Substances Cell-Penetrating Peptides ; Drug Carriers ; Iodine Radioisotopes ; Scorpion Venoms ; maurocalcine ; Tyrosine (42HK56048U)
    Language English
    Publishing date 2014-10
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 60-7
    ISSN 1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbamcr.2014.03.017
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Neurofibromatose de type 1 : survenue de deux tumeurs avant l’âge de 5 ans.

    Remillieux, M / Durand, C / Sartelet, H / Piolat, C / Bourgeois, E / Pommier, P / Hameury, F / Dieterich, K / Vidaud, D / Perret, C

    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

    2017  Volume 24, Issue 10, Page(s) 986–990

    Abstract: Neurofibromatosis type 1 (NF1) is a frequent autosomal dominant genetic disorder that predisposes to the development of benign and malignant tumors. Mutation of the NF1 gene affects the RAS-MAPK signaling pathway and leads to a dysfunction in cell ... ...

    Title translation Type 1 neurofibromatosis: Onset of two tumors before the age of 5years.
    Abstract Neurofibromatosis type 1 (NF1) is a frequent autosomal dominant genetic disorder that predisposes to the development of benign and malignant tumors. Mutation of the NF1 gene affects the RAS-MAPK signaling pathway and leads to a dysfunction in cell proliferation and induces tumor development. Epidemiology of cancer in children with NF1 is very different from the general pediatric population, which requires regular and specific monitoring. Neurofibroma is the most frequent benign tumor. It can be very invalidating depending on the size and location of the tumor. Currently, there is no specific treatment for these tumors. The most frequent malignancies in children with NF1 are leukemias, rhabdomyosarcomas, malignant peripheral nerve sheath tumors and gliomas. The treatment of these tumors should consider the risk of second cancers induced by radio- and chemotherapy. We report on the case of a 5-year-old boy with NF1 developing two tumors.
    MeSH term(s) Child, Preschool ; Humans ; Male ; Neoplasms, Multiple Primary/diagnosis ; Neoplasms, Multiple Primary/therapy ; Neurofibroma, Plexiform/diagnosis ; Neurofibroma, Plexiform/therapy ; Neurofibromatosis 1/diagnosis ; Neurofibromatosis 1/therapy ; Rhabdomyosarcoma/diagnosis ; Rhabdomyosarcoma/therapy
    Language French
    Publishing date 2017-10
    Publishing country France
    Document type Case Reports ; Journal Article
    ZDB-ID 1181947-9
    ISSN 1769-664X ; 0929-693X
    ISSN (online) 1769-664X
    ISSN 0929-693X
    DOI 10.1016/j.arcped.2017.08.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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