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Objective: To summarize the current evidence on relapse-associated worsening (RAW) and progression independent of relapse activity (PIRA) through a quantitative synthesis of real-world studies.

Methods: Scientific databases were searched to identify suitable articles. Random-effects meta-analyses, subgroup analyses and meta-regression models were ran to provide pooled estimates of RAW and PIRA events and to identify their potential moderators (PROSPERO registration: CRD42024503895).

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  • Mucopolysaccharidosis type I Hurler (MPSIH) causes severe skeletal issues that aren't fully improved by traditional stem cell transplants (HSCT), but autologous gene therapy (HSPC-GT) shows promise for better metabolic outcomes.
  • In a clinical trial with eight young patients (average age 1.9 years), those who underwent HSPC-GT were evaluated over four years for various growth and skeletal measures, showing significant improvements compared to those treated with HSCT.
  • After nearly four years, HSPC-GT patients demonstrated better growth, joint mobility, and reduced signs of hip dysplasia, indicating early positive impacts on skeletal health, but more long-term data is needed for con
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  • This study investigated cortical demyelination and remyelination in 140 MS patients over 5 years using magnetization transfer imaging (MTI), revealing significant changes in myelin content.
  • Results showed that the degree of cortical demyelination was associated with increased cortical atrophy and clinical progression, regardless of age or MS type.
  • Although remyelination occurred in many patients, it was less successful near cerebrospinal fluid (CSF) areas, indicating that effective repair processes may not fully prevent disease progression.
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Adding the Optic Nerve in Multiple Sclerosis Diagnostic Criteria: A Longitudinal, Prospective, Multicenter Study.

Neurology

January 2024

From the Hospital Universitari Vall d'Hebron (A.V.-J., A.R., G.A., J.C., D.M., K.R., A.D.B., A.S., C.A., J.S.-G., M.T., X.M.), Barcelona, Spain; Vall d'Hebron Research Institute (VHIR) (W.C.), Universitat Autònoma de Barcelona, Spain; University College London (UCL) (S.C., A.T.T., O.C.), United Kingdom; Institute of Neurology (O.C.), London, United Kingdom; University Hospital Basel (A.P., N.C.-F., J.M.L.), Switzerland; San Camillo-Forlanini Hospital (S.R., C.T., C.G.), Rome, Italy; University of Campania Luigi Vanvitelli (A.B., R.C., A.G.), Naples, Italy.

Background And Objectives: The optic nerve is not one of the areas of the CNS that can be used to demonstrate dissemination in space (DIS) within the 2017 McDonald criteria for the diagnosis of multiple sclerosis (MS). Objectives were (1) to assess whether optic nerve-MRI (ON-MRI), optical coherence tomography (OCT), and visual evoked potentials (VEP) detect optic nerve involvement in clinically isolated syndrome (CIS) and (2) to evaluate the contribution of the optic nerve topography to the current diagnostic criteria in a prospective, multicenter cohort.

Methods: MAGNIMS centers were invited to provide prospective data on patients with CIS who underwent a visual assessment with at least 2 of 3 investigations (ON-MRI, OCT, or VEP) within 6 months of onset.

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