Publications by authors named "S Cabasson"

Article Synopsis
  • MOGAD (myelin oligodendrocyte glycoprotein antibody-associated disease) is a new autoimmune disorder, and this study aims to examine the long-term outcomes and factors affecting relapse in adult patients.
  • The research included 128 patients from a French cohort with a follow-up period averaging over 6.5 years; results showed that a significant portion experienced relapses, with specific onset symptoms such as optic neuritis and myelitis.
  • Findings indicated that starting maintenance treatment after the first attack is linked to lower relapse risk, with notable impact on patients' disability scores over time.
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Article Synopsis
  • * A study tested 104 patients for these autoantibodies along with anti-Argonaute antibodies (Ago-Abs), finding Ago-Abs in 7 patients (6.7%).
  • * The presence of Ago-Abs is associated with a severe course of disease and myelitis symptoms, indicating they may serve as a unique biomarker for NMOSD in some patients.
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The molecular diagnosis of early-onset epileptic encephalopathy (EOEE), an expanding field in child neurology, is becoming increasingly possible thanks to the widespread availability of next-generation sequencing and whole-exome sequencing. In the past 15 years, mutations in STXBP1, KCNQ2, SCN2A, SCN8A and numerous other genes have been reported, giving a more accurate insight for these rare diseases. Among these genes, germline mutations in Phosphatidyl Inositol Glycan A (PIGA) gene were first reported in 2012.

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Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in . Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described.

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Importance: High-flow nasal oxygen may prevent postextubation respiratory failure in the intensive care unit (ICU). The combination of high-flow nasal oxygen with noninvasive ventilation (NIV) may be an optimal strategy of ventilation to avoid reintubation.

Objective: To determine whether high-flow nasal oxygen with prophylactic NIV applied immediately after extubation could reduce the rate of reintubation, compared with high-flow nasal oxygen alone, in patients at high risk of extubation failure in the ICU.

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