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  1. Book ; Conference proceedings: Amyloid and amyloidosis

    Grateau, Gilles

    2005  

    Event/congress International Symposium on Amyloidosis (10, 2004, Tours)
    Author's details [the Xth International Symposium on Amyloidosis was held in Tours, France, April 18 - 22, 2004]. Ed. by Gilles Grateau
    Keywords Amyloidosis ; Amyloid
    Language English
    Size XXIV, 551 S. : Ill., graph. Darst.
    Publisher CRC Press
    Publishing place Boca Raton u.a.
    Publishing country United States
    Document type Book ; Conference proceedings
    HBZ-ID HT014399200
    ISBN 0-8493-3534-5 ; 978-0-8493-3534-1
    Database Catalogue ZB MED Medicine, Health

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    2005 A 2634 order for loan Magazin

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  2. Article ; Online: Malignant Peritoneal Mesothelioma Complicating Familial Mediterranean Fever on 18 F-FDG PET/CT.

    Fayand, Antoine / Kerrou, Khaldoun / Wendum, Dominique / Grateau, Gilles / Georgin-Lavialle, Sophie

    Clinical nuclear medicine

    2024  Volume 49, Issue 3, Page(s) e123–e124

    Abstract: Abstract: A 77-year-old man with a personal history of familial Mediterranean fever presented with a slowly enlarging tumefaction of the left abdominal wall and persistent inflammatory syndrome despite good adherence to colchicine. 18 F-FDG PET/CT ... ...

    Abstract Abstract: A 77-year-old man with a personal history of familial Mediterranean fever presented with a slowly enlarging tumefaction of the left abdominal wall and persistent inflammatory syndrome despite good adherence to colchicine. 18 F-FDG PET/CT showed a hypermetabolic muscular mass of the abdominal wall along with other hypermetabolic lesions including a peritoneal mass and several subcutaneous soft tissue nodules. CT-guided needle biopsy led to the diagnosis of a muscular localization of a malignant peritoneal mesothelioma, which is an extremely rare complication of familial Mediterranean fever. Six courses of chemotherapy with carboplatin and pemetrexed allowed an almost complete response.
    MeSH term(s) Male ; Humans ; Aged ; Familial Mediterranean Fever/complications ; Familial Mediterranean Fever/diagnostic imaging ; Familial Mediterranean Fever/drug therapy ; Positron Emission Tomography Computed Tomography ; Mesothelioma/complications ; Mesothelioma/diagnostic imaging ; Fluorodeoxyglucose F18 ; Mesothelioma, Malignant/complications ; Peritoneal Neoplasms/complications ; Peritoneal Neoplasms/diagnostic imaging ; Peritoneal Neoplasms/pathology
    Chemical Substances Fluorodeoxyglucose F18 (0Z5B2CJX4D)
    Language English
    Publishing date 2024-01-24
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 197628-x
    ISSN 1536-0229 ; 0363-9762
    ISSN (online) 1536-0229
    ISSN 0363-9762
    DOI 10.1097/RLU.0000000000005041
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Neurological manifestations in mevalonate kinase deficiency: A systematic review.

    Elhani, Inès / Hentgen, Véronique / Grateau, Gilles / Georgin-Lavialle, Sophie

    Molecular genetics and metabolism

    2022  Volume 136, Issue 2, Page(s) 85–93

    Abstract: Introduction: Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory disease. Its manifestations range from partial MKD to mevalonic aciduria (MVA). All patients display a periodic fever, and MVA patients additionally exhibit severe ... ...

    Abstract Introduction: Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory disease. Its manifestations range from partial MKD to mevalonic aciduria (MVA). All patients display a periodic fever, and MVA patients additionally exhibit severe neurological involvement. The objective of this work was to describe neurological manifestations of MKD.
    Methods: A systematic literature review was performed from January 1990 to January 2022. Forty-five patients from 18 case reports and five cohort studies were included in the analysis.
    Results: In cohort studies, the most-reported manifestations were headaches (41%) and fatigue (31%). Serious involvements including ataxia and developmental delay were described less than 1% of patients but 22-31% of case reports. They consistently appeared in the first years of life. Retinal dystrophy was frequently reported (31%) in case reports. Other manifestations, including uveitis, aseptic meningitis, and stroke remained rare.
    Discussion: Severe neurological manifestations are rare in MKD but are responsible for major functional disabilities. They are present at onset and never appear at follow-up of patients with mild MKD. Conversely, headaches and fatigue are frequent symptoms that should be investigated. Visual examinations should be performed on the appearance of visual symptoms. The efficacy of anti-IL-1β therapy on neurological manifestations should be further investigated.
    MeSH term(s) Fatigue/etiology ; Headache/etiology ; Humans ; Mevalonate Kinase Deficiency/complications ; Mevalonate Kinase Deficiency/diagnosis ; Mevalonate Kinase Deficiency/genetics
    Language English
    Publishing date 2022-04-30
    Publishing country United States
    Document type Journal Article ; Review ; Systematic Review
    ZDB-ID 1418518-0
    ISSN 1096-7206 ; 1096-7192
    ISSN (online) 1096-7206
    ISSN 1096-7192
    DOI 10.1016/j.ymgme.2022.04.006
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Fièvre méditerranéenne familiale en 2020.

    Savey, Lea / Grateau, Gilles / Georgin-Lavialle, Sophie

    Nephrologie & therapeutique

    2021  Volume 17S, Page(s) S119–S125

    Abstract: Familial Mediterranean fever is the most frequent autoinflammatory disease with autosomal recessive transmission. Most patients carry mutations in the MEFV gene encoding the protein marenostrin/pyrin. It is characterised by short ant recurrent attacks of ...

    Title translation Familial Mediterranean fever in 2020.
    Abstract Familial Mediterranean fever is the most frequent autoinflammatory disease with autosomal recessive transmission. Most patients carry mutations in the MEFV gene encoding the protein marenostrin/pyrin. It is characterised by short ant recurrent attacks of fever and serositis with abdominal or thoracic pain, usually lasting less than 3 days, raised inflammatory biologic markers in an individual of Mediterranean origin. Colchicine has been shown to be effective in prevention of inflammatory attacks and development of amyloidosis which is responsible of nephrotic syndrome and chronic renal failure. Better knowledge in pathogenic mechanisms permitted identification of interleukin-1 beta (Il-1 β) as the main cytokine target. Anti-IL-1 therapy must be considered as a second line treatment in case of persistent inflammation or colchicine intolerance.
    MeSH term(s) Amyloidosis ; Colchicine/therapeutic use ; Familial Mediterranean Fever/diagnosis ; Familial Mediterranean Fever/drug therapy ; Familial Mediterranean Fever/genetics ; Humans ; Mutation ; Pyrin/genetics
    Chemical Substances MEFV protein, human ; Pyrin ; Colchicine (SML2Y3J35T)
    Language French
    Publishing date 2021-04-28
    Publishing country France
    Document type Journal Article
    ZDB-ID 2229575-6
    ISSN 1872-9177 ; 1769-7255
    ISSN (online) 1872-9177
    ISSN 1769-7255
    DOI 10.1016/j.nephro.2020.02.013
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Infections and AA amyloidosis: An overview.

    Deshayes, Samuel / Aouba, Achille / Grateau, Gilles / Georgin-Lavialle, Sophie

    International journal of clinical practice

    2021  Volume 75, Issue 6, Page(s) e13966

    Abstract: Background: Amyloidoses are a heterogeneous group of systemic diseases characterised by extracellular accumulation of insoluble amyloid fibrils derived from unfolded proteins. Inflammatory (AA) amyloidosis can complicate various inflammatory disorders ... ...

    Abstract Background: Amyloidoses are a heterogeneous group of systemic diseases characterised by extracellular accumulation of insoluble amyloid fibrils derived from unfolded proteins. Inflammatory (AA) amyloidosis can complicate various inflammatory disorders that are associated with a sustained acute phase response and serum amyloid A (SAA) protein overproduction. Chronic infections were the first recognised cause of amyloidoses. However, with the better management of underlying diseases, the frequency of AA amyloidosis is decreasing.
    Purpose: The aim of this overview was to discuss the several infections associated with AA amyloidosis and the relative frequency of infections as aetiological factors.
    Methods: A search of the literature was performed using the PubMed database using the MeSH terms "Amyloidosis" and "Infections," from inception to December 31st, 2019. Articles written in other languages than English or French were excluded.
    Results: The frequency of AA amyloidosis secondary to infections decreased from more than 50% to less than 20% after the 2000s, with a parallel increase in the frequency of AA amyloidosis secondary to inflammatory diseases and to an unknown cause.
    Conclusion: Whereas new antibiotics have been developed and sanitary conditions are better, infections still represent 5%-30% of the causes of AA amyloidosis, including in developed countries. These data argue for better screening of chronic infections to prevent AA amyloidosis and the development of new strategies to manage recurrent infections.
    MeSH term(s) Amyloidosis/etiology ; Humans ; Infections ; Serum Amyloid A Protein
    Chemical Substances Serum Amyloid A Protein
    Language English
    Publishing date 2021-01-20
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1386246-7
    ISSN 1742-1241 ; 1368-5031
    ISSN (online) 1742-1241
    ISSN 1368-5031
    DOI 10.1111/ijcp.13966
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Identification of factors for persistence of AA amyloidosis in patients with Familial Mediterranean Fever.

    Terré, Alexandre / Savey, Léa / Buob, David / Grateau, Gilles / Georgin-Lavialle, Sophie

    European journal of internal medicine

    2022  Volume 108, Page(s) 128–130

    MeSH term(s) Humans ; Familial Mediterranean Fever/complications ; Amyloidosis/complications ; Colchicine/therapeutic use ; Pyrin/genetics ; Mutation
    Chemical Substances Colchicine (SML2Y3J35T) ; Pyrin
    Language English
    Publishing date 2022-10-10
    Publishing country Netherlands
    Document type Letter ; Comment
    ZDB-ID 1038679-8
    ISSN 1879-0828 ; 0953-6205
    ISSN (online) 1879-0828
    ISSN 0953-6205
    DOI 10.1016/j.ejim.2022.09.028
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  7. Article ; Online: Correspondence on "Safety of vaccination against SARS-CoV-2 in people with rheumatic and musculoskeletal diseases: results from the EULAR Coronavirus Vaccine (COVAX) physician-reported registry" by Machado

    Bourguiba, Rim / Delplanque, Marion / Savey, Léa / Hentgen, Veronique / Grateau, Gilles / Georgin-Lavialle, Sophie

    Annals of the rheumatic diseases

    2022  Volume 82, Issue 12, Page(s) e228

    MeSH term(s) Humans ; SARS-CoV-2 ; COVID-19 Vaccines/adverse effects ; COVID-19/prevention & control ; Musculoskeletal Diseases/epidemiology ; Vaccination ; Rheumatic Diseases/drug therapy
    Chemical Substances COVID-19 Vaccines
    Language English
    Publishing date 2022-07-11
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 7090-7
    ISSN 1468-2060 ; 0003-4967
    ISSN (online) 1468-2060
    ISSN 0003-4967
    DOI 10.1136/annrheumdis-2022-222118
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.MO 167: Show issues

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  8. Article: Quality of life assessment by SF-36 in elderly patients with familial Mediterranean fever: a comparative cross-sectional study from the Juvenile Inflammatory Rheumatism cohort.

    Rouet, Audrey / Deshayes, Samuel / Savey, Léa / Grateau, Gilles / Georgin-Lavialle, Sophie

    Clinical and experimental rheumatology

    2022  Volume 40, Issue 8, Page(s) 1603–1604

    MeSH term(s) Aged ; Cross-Sectional Studies ; Familial Mediterranean Fever/diagnosis ; Humans ; Pyrin ; Quality of Life ; Rheumatic Fever
    Chemical Substances Pyrin
    Language English
    Publishing date 2022-09-15
    Publishing country Italy
    Document type Letter
    ZDB-ID 605886-3
    ISSN 1593-098X ; 0392-856X
    ISSN (online) 1593-098X
    ISSN 0392-856X
    DOI 10.55563/clinexprheumatol/4ft7y1
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  9. Article ; Online: Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults.

    Delplanque, Marion / Fayand, Antoine / Boursier, Guilaine / Grateau, Gilles / Savey, Léa / Georgin-Lavialle, Sophie

    Rheumatology (Oxford, England)

    2022  Volume 62, Issue 8, Page(s) 2665–2672

    Abstract: Autoinflammatory diseases (AIDs) are defined as disorders of innate immunity. They were initially defined in contrast to autoimmune diseases because of the lack of involvement of the adaptive immune system and circulating autoantibodies. The four ... ...

    Abstract Autoinflammatory diseases (AIDs) are defined as disorders of innate immunity. They were initially defined in contrast to autoimmune diseases because of the lack of involvement of the adaptive immune system and circulating autoantibodies. The four monogenic AIDs first described are called the 'historical' AIDs and include FMF (associated with MEFV mutations), cryopyrinopathies (associated with NLRP3 mutations), TNF receptor-associated periodic syndrome (associated with TNFRSF1A mutations) and mevalonate kinase deficiency (MKD; associated with MVK mutations). In the last 10 years, >50 new monogenic AIDs have been discovered due to genetic advances. The most important discovery for adult patients is VEXAS syndrome associated with somatic UBA1 mutations leading to an AID affecting mostly elderly men. Diagnosis of monogenic AIDs is based on personal and family history and detailed analysis of symptoms associated with febrile attacks in the context of elevated peripheral inflammatory markers. This review proposes a practical approach for the diagnosis of the main monogenic AIDs among adult patients.
    MeSH term(s) Male ; Humans ; Adult ; Aged ; Hereditary Autoinflammatory Diseases/diagnosis ; Hereditary Autoinflammatory Diseases/genetics ; Fever/etiology ; Fever/genetics ; Cryopyrin-Associated Periodic Syndromes/diagnosis ; Cryopyrin-Associated Periodic Syndromes/drug therapy ; Cryopyrin-Associated Periodic Syndromes/genetics ; Mevalonate Kinase Deficiency/diagnosis ; Mevalonate Kinase Deficiency/genetics ; Familial Mediterranean Fever/diagnosis ; Familial Mediterranean Fever/drug therapy ; Familial Mediterranean Fever/genetics ; Pyrin
    Chemical Substances MEFV protein, human ; Pyrin
    Language English
    Publishing date 2022-12-28
    Publishing country England
    Document type Review ; Journal Article
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/keac712
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: AA-type amyloidosis associated with lymphoma: a study of 19 cases including 5 new French cases and a systematic literature review.

    Collet, Aurore / Attias, Philippe / Lacou, Mathieu / Fieschi, Claire / Moktefi, Anissa / Sannier, Aurélie / Grateau, Gilles / Buob, David / Georgin-Lavialle, Sophie

    Leukemia & lymphoma

    2023  Volume 64, Issue 11, Page(s) 1857–1863

    MeSH term(s) Humans ; Amyloidosis/complications ; Amyloidosis/diagnosis ; Lymphoma/complications ; Lymphoma/diagnosis ; Serum Amyloid A Protein
    Chemical Substances Serum Amyloid A Protein
    Language English
    Publishing date 2023-07-26
    Publishing country United States
    Document type Case Reports ; Journal Article ; Systematic Review
    ZDB-ID 1042374-6
    ISSN 1029-2403 ; 1042-8194
    ISSN (online) 1029-2403
    ISSN 1042-8194
    DOI 10.1080/10428194.2023.2239971
    Database MEDical Literature Analysis and Retrieval System OnLINE

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