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  1. Article ; Online: Reply - Letter to the editor.

    Lacombe, Valentin

    Clinical nutrition (Edinburgh, Scotland)

    2024  Volume 43, Issue 6, Page(s) 1318–1319

    Language English
    Publishing date 2024-04-22
    Publishing country England
    Document type Letter
    ZDB-ID 604812-2
    ISSN 1532-1983 ; 0261-5614
    ISSN (online) 1532-1983
    ISSN 0261-5614
    DOI 10.1016/j.clnu.2024.04.023
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    Zs.A 1774: Show issues Location:
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  2. Article ; Online: Comment on: Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.

    Rogez, Juliette / Ravaiau, Camille / Lacombe, Valentin

    Rheumatology (Oxford, England)

    2023  

    Language English
    Publishing date 2023-12-06
    Publishing country England
    Document type Journal Article
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/kead627
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  3. Article ; Online: Vacuoles in circulating immature myeloid cells in VEXAS syndrome and comparison with UBA1-wild type patients.

    Lacombe, Valentin / Genevieve, Franck / Chabrun, Floris

    American journal of hematology

    2023  Volume 99, Issue 2, Page(s) E60–E62

    Abstract: We did not identify any vacuole-related differences in circulating immature myeloid cells between VEXAS patients and UBA1-WT 'VEXAS-like' patients. The similar vacuolization of circulating immature myeloid cells between VEXAS and UBA1-WT patients is ... ...

    Abstract We did not identify any vacuole-related differences in circulating immature myeloid cells between VEXAS patients and UBA1-WT 'VEXAS-like' patients. The similar vacuolization of circulating immature myeloid cells between VEXAS and UBA1-WT patients is explained by the main bloodstream passage of late precursors, in which the vacuolization is already similar in bone marrow in both cases.
    MeSH term(s) Humans ; Vacuoles ; Myeloid Cells ; Myelodysplastic Syndromes ; Mutation ; Skin Diseases, Genetic
    Language English
    Publishing date 2023-12-22
    Publishing country United States
    Document type Letter
    ZDB-ID 196767-8
    ISSN 1096-8652 ; 0361-8609
    ISSN (online) 1096-8652
    ISSN 0361-8609
    DOI 10.1002/ajh.27192
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    Zs.A 1251: Show issues Location:
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  4. Article ; Online: Comparing clinical features between males and females with VEXAS syndrome: data from literature analysis of patient reports.

    Echerbault, Robin / Bourguiba, Rim / Georgin-Lavialle, Sophie / Lavigne, Christian / Ravaiau, Camille / Lacombe, Valentin

    Rheumatology (Oxford, England)

    2024  

    Abstract: Objectives: VEXAS syndrome is an autoinflammatory disease associated with a somatic mutation of the X-linked UBA1 gene in haematopoietic progenitor cells. This disorder was originally described as a disease affecting men, but rare cases of VEXAS ... ...

    Abstract Objectives: VEXAS syndrome is an autoinflammatory disease associated with a somatic mutation of the X-linked UBA1 gene in haematopoietic progenitor cells. This disorder was originally described as a disease affecting men, but rare cases of VEXAS syndrome in women have since been reported. The theoretical existence of phenotypic sex differences in this X-linked disease is debated. We compared the features of VEXAS syndrome between males and females to better understand this disorder and to improve its diagnostic accuracy in females.
    Methods: From previously published clinical descriptions of VEXAS syndrome, we included studies that described patients with precise, individual VEXAS-related features. We formed a literature-based cohort of patients by collecting their clinical and biological data and compared the characteristics of male and female patients.
    Results: We gathered 224 patient descriptions from 104 articles: 9 women and 215 men. Among the women, 1 had a constitutional 45, X karyotype and 4 had an acquired X monosomy in the bone marrow karyotype, while the marrow karyotype was not provided for the others. No difference was observed in the clinical or biological features according to sex. We also observed no difference in the type of UBA1 mutation or the association with myelodysplastic syndrome.
    Conclusions: Our results supported that UBA1 mutation should be sought under the same conditions in both sexes. As UBA1 is not subject to X-chromosome inactivation, VEXAS syndrome in females requires both UBA1 mutation and X monosomy, thus explaining the similarity between male and female VEXAS-related features and the lower prevalence of VEXAS syndrome in females.
    Language English
    Publishing date 2024-02-24
    Publishing country England
    Document type Journal Article
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/keae123
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  5. Article ; Online: Accurate stratification between VEXAS syndrome and differential diagnoses by deep learning analysis of peripheral blood smears.

    Chabrun, Floris / Lacombe, Valentin / Dieu, Xavier / Geneviève, Franck / Urbanski, Geoffrey

    Clinical chemistry and laboratory medicine

    2023  Volume 61, Issue 7, Page(s) 1275–1279

    Abstract: Objectives: VEXAS syndrome is a newly described autoinflammatory disease associated with : Methods: We compared leukocyte images from blood smears of three groups: participants with VEXAS syndrome (identified : Results: The VEXAS, UBA1-WT, and MDS ...

    Abstract Objectives: VEXAS syndrome is a newly described autoinflammatory disease associated with
    Methods: We compared leukocyte images from blood smears of three groups: participants with VEXAS syndrome (identified
    Results: The VEXAS, UBA1-WT, and MDS groups included 3, 3, and 6 patients respectively. Analysis of 33,757 images of neutrophils and monocytes enabled us to distinguish VEXAS patients from both UBA1-WT and MDS patients, with mean ROC-AUCs ranging from 0.87 to 0.95.
    Conclusions: Image analysis of blood smears via deep learning accurately distinguished neutrophils and monocytes drawn from patients with VEXAS syndrome from those of patients with similar clinical and/or biological features but without
    MeSH term(s) Humans ; Diagnosis, Differential ; Deep Learning ; Myelodysplastic Syndromes ; Leukocytes ; Mutation
    Language English
    Publishing date 2023-02-02
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1418007-8
    ISSN 1437-4331 ; 1434-6621 ; 1437-8523
    ISSN (online) 1437-4331
    ISSN 1434-6621 ; 1437-8523
    DOI 10.1515/cclm-2022-1283
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    Zs.A 121: Show issues Location:
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  6. Article ; Online: Diagnostic and Therapeutic Perspectives Associated to Cobalamin-Dependent Metabolism and Transcobalamins' Synthesis in Solid Cancers.

    Lacombe, Valentin / Lenaers, Guy / Urbanski, Geoffrey

    Nutrients

    2022  Volume 14, Issue 10

    Abstract: Cobalamin or vitamin B12 (B12) is a cofactor for methionine synthase and methylmalonyl-CoA mutase, two enzymes implicated in key pathways for cell proliferation: methylation, purine synthesis, succinylation and ATP production. Ensuring these functions in ...

    Abstract Cobalamin or vitamin B12 (B12) is a cofactor for methionine synthase and methylmalonyl-CoA mutase, two enzymes implicated in key pathways for cell proliferation: methylation, purine synthesis, succinylation and ATP production. Ensuring these functions in cancer cells therefore requires important cobalamin needs and its uptake through the transcobalamin II receptor (TCII-R). Thus, both the TCII-R and the cobalamin-dependent metabolic pathways constitute promising therapeutic targets to inhibit cancer development. However, the link between cobalamin and solid cancers is not limited to cellular metabolism, as it also involves the circulating transcobalamins I and II (TCI or haptocorrin and TCII) carrier proteins, encoded by
    MeSH term(s) Humans ; Neoplasms/metabolism ; Transcobalamins/metabolism ; Vitamin B 12/metabolism
    Chemical Substances Transcobalamins ; Vitamin B 12 (P6YC3EG204)
    Language English
    Publishing date 2022-05-14
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2518386-2
    ISSN 2072-6643 ; 2072-6643
    ISSN (online) 2072-6643
    ISSN 2072-6643
    DOI 10.3390/nu14102058
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  7. Article ; Online: Segmental anhidrosis and heat intolerance.

    Lacombe, Valentin / Le Clec'h, Christian

    European journal of internal medicine

    2022  Volume 97, Page(s) 95–96

    MeSH term(s) Hot Temperature ; Humans ; Hypohidrosis/diagnosis ; Hypohidrosis/etiology
    Language English
    Publishing date 2022-01-07
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 1038679-8
    ISSN 1879-0828 ; 0953-6205
    ISSN (online) 1879-0828
    ISSN 0953-6205
    DOI 10.1016/j.ejim.2022.01.003
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    Zs.A 2608: Show issues Location:
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  8. Article ; Online: The relevance of pacing strategies in managing symptoms of post-COVID-19 syndrome.

    Ghali, Alaa / Lacombe, Valentin / Ravaiau, Camille / Delattre, Estelle / Ghali, Maria / Urbanski, Geoffrey / Lavigne, Christian

    Journal of translational medicine

    2023  Volume 21, Issue 1, Page(s) 375

    Abstract: Background: Post-COVID-19 syndrome (PCS) shares many features with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). PCS represents a major health issue worldwide because it severely impacts patients' work activities and their quality of life. ...

    Abstract Background: Post-COVID-19 syndrome (PCS) shares many features with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). PCS represents a major health issue worldwide because it severely impacts patients' work activities and their quality of life. In the absence of treatment for both conditions and given the beneficial effect of pacing strategies in ME/CFS, we conducted this study to assess the effectiveness of pacing in PCS patients.
    Methods: We retrospectively included patients meeting the World Health Organization definition of PCS who attended the Internal Medicine Department of Angers University Hospital, France between June 2020 and June 2022, and were followed up until December 2022. Pacing strategies were systematically proposed for all patients. Their medical records were reviewed and data related to baseline and follow-up assessments were collected. This included epidemiological characteristics, COVID-19 symptoms and associated conditions, fatigue features, perceived health status, employment activity, and the degree of pacing adherence assessed by the engagement in pacing subscale (EPS). Recovery was defined as the ability to return to work, and improvement was regarded as the reduction of the number and severity of symptoms.
    Results: A total of 86 patients were included and followed-up for a median time of 10 [6-13] months. Recovery and improvement rates were 33.7% and 23.3%, respectively. The EPS score was the only variable significantly associated with recovery on multivariate analysis (OR 40.43 [95% CI 6.22-262.6], p < 0.001). Patients who better adhered to pacing (high EPS scores) experienced significantly higher recovery and improvement rates (60-33.3% respectively) than those with low (5.5-5.5% respectively), or moderate (4.3-17.4% respectively) scores.
    Conclusion: Our findings demonstrated that pacing is effective in the management of patients with PCS, and that high levels of adherence to pacing are associated with better outcomes.
    MeSH term(s) Humans ; Quality of Life ; Fatigue Syndrome, Chronic/therapy ; Post-Acute COVID-19 Syndrome ; Retrospective Studies ; COVID-19
    Language English
    Publishing date 2023-06-08
    Publishing country England
    Document type Journal Article
    ZDB-ID 2118570-0
    ISSN 1479-5876 ; 1479-5876
    ISSN (online) 1479-5876
    ISSN 1479-5876
    DOI 10.1186/s12967-023-04229-w
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  9. Article ; Online: Vacuoles in bone marrow progenitors: VEXAS syndrome and beyond.

    Lacombe, Valentin / Hadjadj, Jérome / Georgin-Lavialle, Sophie / Lavigne, Christian / Geneviève, Franck / Kosmider, Olivier

    The Lancet. Haematology

    2023  Volume 11, Issue 2, Page(s) e160–e167

    Abstract: The presence of vacuoles in myeloid and erythroid progenitor cells in bone marrow aspirates is a key feature of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. The mere observation of vacuolated progenitor cells is not specific ...

    Abstract The presence of vacuoles in myeloid and erythroid progenitor cells in bone marrow aspirates is a key feature of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. The mere observation of vacuolated progenitor cells is not specific to VEXAS syndrome; in this Viewpoint, we point out the causes to be considered in this situation. Vacuoles, in particular, can be observed in individuals with wild-type UBA1 and with persistent inflammatory features or myelodysplastic syndromes. However, several clues support the diagnosis of VEXAS syndrome in the presence of vacuolated bone marrow progenitors: a high number of vacuolated progenitors and of vacuoles per cell, the predominance of vacuoles in early rather than late progenitors, and the vacuolisation of both myeloid and erythroid progenitors with predominance of myeloid ones. Some criteria derived from these observations have been proposed with great diagnostic performances. However, the absence or a low proportion of vacuolated cells should not prevent UBA1 gene sequencing.
    MeSH term(s) Humans ; Bone Marrow ; Vacuoles ; Myelodysplastic Syndromes ; Mutation ; Skin Diseases, Genetic
    Language English
    Publishing date 2023-11-10
    Publishing country England
    Document type Journal Article ; Review
    ISSN 2352-3026
    ISSN (online) 2352-3026
    DOI 10.1016/S2352-3026(23)00375-7
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  10. Article ; Online: Melkersson-Rosenthal Syndrome: an Unusual Cause of Facial Palsy.

    Lacombe, Valentin / Urbanski, Geoffrey / Lavigne, Christian

    Deutsches Arzteblatt international

    2021  Volume 118I processed the file.I'm waiting for feedback tomorrow, Issue 35-36, Page(s) 594

    MeSH term(s) Bell Palsy ; Facial Paralysis/etiology ; Humans ; Melkersson-Rosenthal Syndrome/complications ; Melkersson-Rosenthal Syndrome/diagnosis
    Language English
    Publishing date 2021-09-06
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 2406159-1
    ISSN 1866-0452 ; 1866-0452
    ISSN (online) 1866-0452
    ISSN 1866-0452
    DOI 10.3238/arztebl.m2021.0063
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