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  1. Artikel: Diagnostic et prise en charge en urgence de l’accident vasculaire cérébral de l’enfant.

    Gousse, Gaëlle / Chabrier, Stéphane / Kossorotoff, Manoëlle

    Soins. Pediatrie, puericulture

    2017  Band 38, Heft 295, Seite(n) 14–16

    Abstract: The sudden occurrence of a focal neurological deficit, sometimes transitory and fluctuating, must lead to a suspicion of a stroke, including in a child. The preferred examination is magnetic resonance imaging with magnetic resonance angiography in an ... ...

    Titelübersetzung Diagnosis and emergency treatment of stroke in children.
    Abstract The sudden occurrence of a focal neurological deficit, sometimes transitory and fluctuating, must lead to a suspicion of a stroke, including in a child. The preferred examination is magnetic resonance imaging with magnetic resonance angiography in an emergency. The sequelae of stroke are common and severe. Urgent diagnosis and adapted care can help to improve morbidity-mortality. Rehabilitation starts early and must systematically screen for cognitive or language impairment. The management of a stroke in a child must be planned for in multi-disciplinary protocols established before the patient's arrival at hospital.
    Mesh-Begriff(e) Brain/pathology ; Child ; Fibrinolytic Agents/therapeutic use ; Humans ; Magnetic Resonance Angiography ; Stroke/diagnosis ; Stroke/therapy ; Thrombectomy
    Chemische Substanzen Fibrinolytic Agents
    Sprache Französisch
    Erscheinungsdatum 2017-03
    Erscheinungsland France
    Dokumenttyp Journal Article
    ZDB-ID 1234484-9
    ISSN 2214-9325 ; 1259-4792
    ISSN (online) 2214-9325
    ISSN 1259-4792
    DOI 10.1016/j.spp.2017.01.003
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.

    Le Goff, Laure / Seferian, Andreea / Phelep, Aurelie / Rippert, Pascal / Mathieu, Marie-Laure / Cances, Claude / de Lattre, Capucine / Durigneux, Julien / Gousse, Gaelle / Vincent-Genod, Dominique / Ribault, Shams / Gómez García de la Banda, Marta / Quijano-Roy, Susana / Sarret, Catherine / Servais, Laurent / Vuillerot, Carole

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2022  Band 44, Heft 3, Seite(n) 1139

    Sprache Englisch
    Erscheinungsdatum 2022-11-20
    Erscheinungsland Italy
    Dokumenttyp Published Erratum
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-022-06522-w
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.

    Le Goff, Laure / Seferian, Andreea / Phelep, Aurelie / Rippert, Pascal / Mathieu, Marie-Laure / Cances, Claude / de Lattre, Capucine / Durigneux, Julien / Gousse, Gaelle / Vincent-Genod, Dominique / Ribault, Shams / Gomez Garcia de la Banda, Marta / Quijano-Roy, Susana / Sarret, Catherine / Servais, Laurent / Vuillerot, Carole

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2022  Band 44, Heft 1, Seite(n) 329–337

    Abstract: Objective: To evaluate sensitivity to change and discriminant validity of the 20-item Motor Function Measure (MFM-20) in 2-7-year-old patients with spinal muscular atrophy types 1 (SMA1) or 2 (SMA2) treated with nusinersen.: Methods: Children aged 2 ... ...

    Abstract Objective: To evaluate sensitivity to change and discriminant validity of the 20-item Motor Function Measure (MFM-20) in 2-7-year-old patients with spinal muscular atrophy types 1 (SMA1) or 2 (SMA2) treated with nusinersen.
    Methods: Children aged 2 to 7 years old with SMA1 or SMA2 treated with nusinersen were assessed at least three times using the MFM-20 over an average follow-up time of 17 months. Evolution of 4-month-standardized MFM-20 scores was calculated for each MFM-20 domain (D1 standing and transfers, D2 axial and proximal, D3 distal) and for the total score (TS).
    Results: Included in the study were 22 SMA1 subjects and 19 SMA2 subjects. Baseline MFM scores were significantly lower in patients with SMA1 than SMA2 (TS 29.5% vs. 48.3%, D1 4.5% vs. 10.6%, D2 43.6% vs. 72.6%, D3 51.2% vs. 75.0%). When considering the mean change during nusinersen treatment, standardized over a 4-month period, TS was improved for both SMA1 (+ 4.1%, SRM 1.5) and SMA2 (+ 2.8%, SRM 0.89) patients. For SMA1 patients, considerable changes were observed in D2 (+ 6.2%, SRM 0.89) and D3 (+ 6.0%, SRM 0.72), whereas the change in D1 was small (+ 0.5%, SRM 0.44). In SMA2 2 subjects, D3 was improved to a larger extent (+ 4.2%, SRM 0.53) than D1 (+ 1.8% SRM 0.63) or D2 (+ 3.2%, SRM 0.69).
    Conclusion: Our results validate use of MFM-20 to monitor function of young SMA1 and SMA2 subjects treated with nusinersen. Significant motor function improvements following treatment were observed in both SMA1 and SMA2 patients.
    Mesh-Begriff(e) Child ; Humans ; Child, Preschool ; Spinal Muscular Atrophies of Childhood/drug therapy ; Oligonucleotides/therapeutic use ; Standing Position ; Muscular Atrophy, Spinal/drug therapy
    Chemische Substanzen nusinersen (5Z9SP3X666) ; Oligonucleotides
    Sprache Englisch
    Erscheinungsdatum 2022-09-29
    Erscheinungsland Italy
    Dokumenttyp Journal Article
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-022-06403-2
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

    Villar-Quiles, Rocío N / Donkervoort, Sandra / de Becdelièvre, Alix / Gartioux, Corine / Jobic, Valérie / Foley, A Reghan / McCarty, Riley M / Hu, Ying / Menassa, Rita / Michel, Laurence / Gousse, Gaelle / Lacour, Arnaud / Petiot, Philippe / Streichenberger, Nathalie / Choumert, Ariane / Declerck, Léa / Urtizberea, J A / Sole, Guilhem / Furby, Alain /
    Cérino, Matthieu / Krahn, Martin / Campana-Salort, Emmanuelle / Ferreiro, Ana / Eymard, Bruno / Bönnemann, Carsten G / Bharucha-Goebel, Diana / Sumner, Charlotte J / Connolly, Anne M / Richard, Pascale / Allamand, Valérie / Métay, Corinne / Stojkovic, Tanya

    Journal of neuromuscular diseases

    2021  Band 8, Heft 4, Seite(n) 633–645

    Abstract: Background: Dominant and recessive autosomal pathogenic variants in the three major genes (COL6A1-A2-A3) encoding the extracellular matrix protein collagen VI underlie a group of myopathies ranging from early-onset severe conditions (Ullrich congenital ... ...

    Abstract Background: Dominant and recessive autosomal pathogenic variants in the three major genes (COL6A1-A2-A3) encoding the extracellular matrix protein collagen VI underlie a group of myopathies ranging from early-onset severe conditions (Ullrich congenital muscular dystrophy) to milder forms maintaining independent ambulation (Bethlem myopathy). Diagnosis is based on the combination of clinical presentation, muscle MRI, muscle biopsy, analysis of collagen VI secretion, and COL6A1-A2-A3 genetic analysis, the interpretation of which can be challenging.
    Objective: To refine the phenotypical spectrum associated with the frequent COL6A3 missense variant c.7447A>G (p.Lys2483Glu).
    Methods: We report the clinical and molecular findings in 16 patients: 12 patients carrying this variant in compound heterozygosity with another COL6A3 variant, and four homozygous patients.
    Results: Patients carrying this variant in compound heterozygosity with a truncating COL6A3 variant exhibit a phenotype consistent with COL6-related myopathies (COL6-RM), with joint contractures, proximal weakness and skin abnormalities. All remain ambulant in adulthood and only three have mild respiratory involvement. Most show typical muscle MRI findings. In five patients, reduced collagen VI secretion was observed in skin fibroblasts cultures. All tested parents were unaffected heterozygous carriers. Conversely, two out of four homozygous patients did not present with the classical COL6-RM clinical and imaging findings. Collagen VI immunolabelling on cultured fibroblasts revealed rather normal secretion in one and reduced secretion in another. Muscle biopsy from one homozygous patient showed myofibrillar disorganization and rimmed vacuoles.
    Conclusions: In light of our results, we postulate that the COL6A3 variant c.7447A>G may act as a modulator of the clinical phenotype. Thus, in patients with a typical COL6-RM phenotype, a second variant must be thoroughly searched for, while for patients with atypical phenotypes further investigations should be conducted to exclude alternative causes. This works expands the clinical and molecular spectrum of COLVI-related myopathies.
    Mesh-Begriff(e) Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Collagen Type VI/genetics ; Female ; Heterozygote ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Muscle, Skeletal/pathology ; Muscular Diseases/genetics ; Muscular Dystrophies/genetics ; Mutation ; Phenotype ; Procollagen/genetics ; Young Adult
    Chemische Substanzen COL6A3 protein, human ; Collagen Type VI ; Procollagen
    Sprache Englisch
    Erscheinungsdatum 2021-03-22
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article
    ISSN 2214-3602
    ISSN (online) 2214-3602
    DOI 10.3233/JND-200577
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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