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  1. Article: Sensorimotor deficit: To worm information out of white blood cell count!

    Camard, M / Labeyrie, C / Bessis, S / Beaudonnet, G / Beauvais, D

    Revue neurologique

    2024  

    Language English
    Publishing date 2024-02-03
    Publishing country France
    Document type Letter
    ZDB-ID 4593-7
    ISSN 2213-0004 ; 0035-3787
    ISSN (online) 2213-0004
    ISSN 0035-3787
    DOI 10.1016/j.neurol.2023.11.005
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  2. Article ; Online: Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC2 mutation.

    Bessis, D / Malinge, M-C / Girard, C

    The British journal of dermatology

    2018  Volume 178, Issue 1, Page(s) e53–e54

    MeSH term(s) Adolescent ; Angiofibroma/genetics ; Facial Neoplasms/genetics ; Humans ; Male ; Mosaicism ; Mutation/genetics ; Tuberous Sclerosis/genetics ; Tuberous Sclerosis Complex 2 Protein/genetics
    Chemical Substances TSC2 protein, human ; Tuberous Sclerosis Complex 2 Protein
    Language English
    Publishing date 2018-01-07
    Publishing country England
    Document type Case Reports ; Letter
    ZDB-ID 80076-4
    ISSN 1365-2133 ; 0007-0963
    ISSN (online) 1365-2133
    ISSN 0007-0963
    DOI 10.1111/bjd.15868
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  3. Article: Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients.

    Secco, L-P / Coubes, C / Meyer, P / Chenine, L / Roubertie, A / Malinge, M-C / Bessis, D

    Annales de dermatologie et de venereologie

    2022  Volume 149, Issue 4, Page(s) 241–244

    Abstract: Background: Tuberous sclerosis complex (TSC) is a genetic disorder involving the TSC1 or TSC2 gene. Skin signs are prominent, but dermatological data are scarce. This study aims to describe the cutaneous signs of TSC with the genotype.: Methods: We ... ...

    Abstract Background: Tuberous sclerosis complex (TSC) is a genetic disorder involving the TSC1 or TSC2 gene. Skin signs are prominent, but dermatological data are scarce. This study aims to describe the cutaneous signs of TSC with the genotype.
    Methods: We studied the dermatological characteristics of 38 patients with TSC at the University Hospital of Montpellier. We collected details of genotypic features.
    Results: All the patients presented at least one cutaneous sign. The dermatological examination alone was sufficient to establish a definite diagnosis of TSC based on the diagnostic criteria for 34/38 patients. No association was found between cutaneous signs and the presence of a TSC1 or TSC2 mutation. We noted skin signs that were poorly described in the disease, namely epidermal nevus in 3 patients, vascular malformation in 2 patients, and keratosis pilaris in 9 patients.
    Discussion: While several studies demonstrate a more severe neurological phenotype in TSC2 mutated patients, skin expression does not appear to differ according to the mutated gene. Further case reports and molecular genetic studies are needed to determine the link between epidermal nevus, vascular malformations, keratosis pilaris and TSC.
    MeSH term(s) Humans ; Mutation ; Prospective Studies ; Tuberous Sclerosis/genetics ; Tuberous Sclerosis Complex 1 Protein/genetics ; Tuberous Sclerosis Complex 2 Protein/genetics ; Tumor Suppressor Proteins/genetics
    Chemical Substances Tuberous Sclerosis Complex 1 Protein ; Tuberous Sclerosis Complex 2 Protein ; Tumor Suppressor Proteins
    Language English
    Publishing date 2022-05-06
    Publishing country France
    Document type Journal Article
    ZDB-ID 391805-1
    ISSN 2214-5451 ; 0151-9638
    ISSN (online) 2214-5451
    ISSN 0151-9638
    DOI 10.1016/j.annder.2022.02.007
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  4. Article ; Online: Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study.

    Legoupil, S / Bessis, D / Picard, F / Mallet, S / Mazereeuw, J / Phan, A / Dupin-Deguine, D / Kalamarides, M / Chiaverini, C

    Orphanet journal of rare diseases

    2022  Volume 17, Issue 1, Page(s) 242

    Abstract: Background: Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannoma (VS) more often in adults but a severe paediatric form with multiple neurological tumours is also described. In this population, a early diagnosis is ... ...

    Abstract Background: Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannoma (VS) more often in adults but a severe paediatric form with multiple neurological tumours is also described. In this population, a early diagnosis is important to prevent the onset of neurological complications but is difficult, particularly without a familial history. Cutaneous manifestations, which may precede VS or neurological tumours by several years, may contribute to an early diagnosis, but specific studies are lacking. The objective of this study was to characterize cutaneous manifestations of NF2 in a paediatric population.
    Results: This observational, descriptive and multicentric study was conducted from April 2019 to April 2020 in seven academic French hospitals. We included patients ≤ 18 years old who fulfilled the Manchester diagnostic criteria or had a pathogenic mutation identified in the NF2 gene. All patients underwent a dermatological examination guided by a standardized questionnaire. 21 children were included, of whom 20 had at least one skin tumour (mean number 5 ± 4.6 [range 0-15]), which led to a diagnosis in four cases. In the other 17 cases, the diagnosis of NF2 was based on neurosensory complications (n = 10), family screening (n = 4) or ocular signs (n = 3). Before the NF2 diagnosis, 15 children had at least one "undiagnosed" cutaneous tumour that did not lead to a specific management. Patients' dermatological examination also revealed < 6 non specific café au lait macules (n = 15), hypopigmented macules (n = 12) with more than 3 lesions in 4 cases, and purple reticulated macules of the trunk (n = 4).
    Conclusion: Dermatological lesions are frequent and early in children with NF2 but rarely lead to the diagnosis. Cutaneous schwannomas are the most frequent but are often underdiagnosed. Café au lait macules are frequent, but atypical and mostly in small numbers. Multiple hypopigmented macules seem suggestive although inconsistent. The sensitivity of reticulated capillary malformation-like lesions remains to be assessed by further studies.
    MeSH term(s) Adolescent ; Cafe-au-Lait Spots/genetics ; Child ; Cross-Sectional Studies ; Humans ; Nervous System Diseases ; Neurilemmoma/complications ; Neurofibromatosis 1/diagnosis ; Neurofibromatosis 2/complications ; Neurofibromatosis 2/genetics ; Neurofibromatosis 2/pathology ; Skin Neoplasms/complications
    Language English
    Publishing date 2022-06-21
    Publishing country England
    Document type Journal Article ; Multicenter Study ; Observational Study
    ZDB-ID 2225857-7
    ISSN 1750-1172 ; 1750-1172
    ISSN (online) 1750-1172
    ISSN 1750-1172
    DOI 10.1186/s13023-022-02379-6
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  5. Article ; Online: Microglial TNFα controls daily changes in synaptic GABAARs and sleep slow waves.

    Pinto, Maria Joana / Bizien, Lucy / Fabre, Julie M J / Ðukanović, Nina / Lepetz, Valentin / Henderson, Fiona / Pujol, Marine / Sala, Romain W / Tarpin, Thibault / Popa, Daniela / Triller, Antoine / Léna, Clément / Fabre, Véronique / Bessis, Alain

    The Journal of cell biology

    2024  Volume 223, Issue 7

    Abstract: Microglia sense the changes in their environment. How microglia actively translate these changes into suitable cues to adapt brain physiology is unknown. We reveal an activity-dependent regulation of cortical inhibitory synapses by microglia, driven by ... ...

    Abstract Microglia sense the changes in their environment. How microglia actively translate these changes into suitable cues to adapt brain physiology is unknown. We reveal an activity-dependent regulation of cortical inhibitory synapses by microglia, driven by purinergic signaling acting on P2RX7 and mediated by microglia-derived TNFα. We demonstrate that sleep induces microglia-dependent synaptic enrichment of GABAARs in a manner dependent on microglial TNFα and P2RX7. We further show that microglia-specific depletion of TNFα alters slow waves during NREM sleep and blunt memory consolidation in sleep-dependent learning tasks. Together, our results reveal that microglia orchestrate sleep-intrinsic plasticity of synaptic GABAARs, sculpt sleep slow waves, and support memory consolidation.
    MeSH term(s) Animals ; Microglia/metabolism ; Tumor Necrosis Factor-alpha/metabolism ; Synapses/metabolism ; Mice ; Receptors, GABA-A/metabolism ; Mice, Inbred C57BL ; Sleep, Slow-Wave ; Male ; Receptors, Purinergic P2X7/metabolism ; Receptors, Purinergic P2X7/genetics ; Neuronal Plasticity/physiology ; Sleep/physiology ; Memory Consolidation ; Signal Transduction
    Chemical Substances Tumor Necrosis Factor-alpha ; Receptors, GABA-A ; Receptors, Purinergic P2X7
    Language English
    Publishing date 2024-05-02
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 218154-x
    ISSN 1540-8140 ; 0021-9525
    ISSN (online) 1540-8140
    ISSN 0021-9525
    DOI 10.1083/jcb.202401041
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  6. Article ; Online: PASS: a rare syndrome within the autoinflammatory diseases that still lacks a genetic marker.

    Schwob, E / Bessis, D / Boursier, G / Kottler, D / Guillot, B / Lerisson, M / Girard, C

    Journal of the European Academy of Dermatology and Venereology : JEADV

    2020  Volume 34, Issue 9, Page(s) e478–e480

    MeSH term(s) Genetic Markers ; Hereditary Autoinflammatory Diseases/diagnosis ; Hereditary Autoinflammatory Diseases/genetics ; Humans ; Syndrome
    Chemical Substances Genetic Markers
    Language English
    Publishing date 2020-05-19
    Publishing country England
    Document type Letter
    ZDB-ID 1128828-0
    ISSN 1468-3083 ; 0926-9959
    ISSN (online) 1468-3083
    ISSN 0926-9959
    DOI 10.1111/jdv.16385
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    Zs.A 3492: Show issues Location:
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    Zs.MO 413: Show issues

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  7. Article ; Online: Crown-rump length measurement: a new age for first-trimester ultrasound?

    Stirnemann, J / Massoud, M / Fries, N / Dumont, C / Haddad, G / Bessis, R / Dhombres, F / Salomon, L J

    Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

    2021  Volume 58, Issue 3, Page(s) 345–346

    MeSH term(s) Crown-Rump Length ; Female ; Gestational Age ; Humans ; Pregnancy ; Pregnancy Trimester, First ; Ultrasonography ; Ultrasonography, Prenatal
    Language English
    Publishing date 2021-06-15
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 1073183-0
    ISSN 1469-0705 ; 0960-7692
    ISSN (online) 1469-0705
    ISSN 0960-7692
    DOI 10.1002/uog.23692
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  8. Article ; Online: Assessing the performance of growth charts: A difficult endeavour.

    Bessis, Roger / Dhombres, Ferdinand / Dumont, Coralie / Fries, Nicolas / Haddad, Georges / Massoud, Mona / Stirnemann, Julien / Salomon, Laurent Julien

    BJOG : an international journal of obstetrics and gynaecology

    2022  Volume 129, Issue 8, Page(s) 1234–1235

    MeSH term(s) Growth Charts ; Humans ; Reference Values
    Language English
    Publishing date 2022-03-22
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 2000931-8
    ISSN 1471-0528 ; 0306-5456 ; 1470-0328
    ISSN (online) 1471-0528
    ISSN 0306-5456 ; 1470-0328
    DOI 10.1111/1471-0528.17143
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  9. Article ; Online: Jadassohn-Dössekker's atypical tuberous myxedema: Report of three cases and review of literature.

    Stammler, Romain / Bessis, Didier / Meunier, Laurent / Limal, Nicolas / Guillaud, Constance / Mahévas, Matthieu / Bagot, Martine / Charvet, Estelle / Cassius, Charles / Battistella, Maxime / Bouaziz, Jean-David / Mahévas, Thibault

    Journal of the European Academy of Dermatology and Venereology : JEADV

    2023  

    Language English
    Publishing date 2023-03-13
    Publishing country England
    Document type Letter
    ZDB-ID 1128828-0
    ISSN 1468-3083 ; 0926-9959
    ISSN (online) 1468-3083
    ISSN 0926-9959
    DOI 10.1111/jdv.19029
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  10. Article ; Online: Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.

    Sabbagh, Quentin / Tharreau, Mylène / Cenni, Camille / Sanchez, Elodie / Ruiz-Pallares, Nathalie / Alkar, Fanny / Amouroux, Cyril / David, Stéphanie / Prodhomme, Olivier / Leboucq, Nicolas / Meunier, Isabelle / Bessis, Didier / Theron, Alexandre / Barat-Houari, Mouna / Willems, Marjolaine

    European journal of medical genetics

    2023  Volume 66, Issue 5, Page(s) 104733

    Abstract: Autosomal recessive primary microcephaly type 3 (MCPH3) caused by pathogenic variations in CDK5RAP2, is characterized by sensorineural hearing loss, abnormality of skin pigmentation, ocular defects and severe microcephaly associated with ... ...

    Abstract Autosomal recessive primary microcephaly type 3 (MCPH3) caused by pathogenic variations in CDK5RAP2, is characterized by sensorineural hearing loss, abnormality of skin pigmentation, ocular defects and severe microcephaly associated with neurodevelopmental delay. In this study, we expand the phenotype of MCPH3 as we describe a 10-year-old girl with a biallelic exonic frameshift variant in CDK5RAP2 displaying previously unreported features usually associated with Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II (MOPDII). We further describe the clinical phenotype of this form of centrosomal-based primary microcephaly and emphasize the importance of skeletal defect screening in affected individuals.
    MeSH term(s) Female ; Humans ; Microcephaly/pathology ; Dwarfism/genetics ; Dwarfism/diagnosis ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/diagnosis ; Fetal Growth Retardation/genetics ; Fetal Growth Retardation/diagnosis ; Nerve Tissue Proteins ; Cell Cycle Proteins/genetics
    Chemical Substances CDK5RAP2 protein, human ; Nerve Tissue Proteins ; Cell Cycle Proteins
    Language English
    Publishing date 2023-02-25
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2023.104733
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