Publications by authors named "R Topakian"
Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is no consensus within the SMA treatment community regarding early treatment initiation in this subgroup. To provide evidence-based insights into disease progression, we performed a retrospective analysis of 268 patients with 4 copies of SMN2 from the SMArtCARE registry in Germany, Austria and Switzerland.
View Article and Find Full Text PDFIntroduction/aims: The clinical presentation of multifocal motor neuropathy (MMN) may mimic early amyotrophic lateral sclerosis (ALS) with predominant lower motor neuron (LMN) involvement, posing a diagnostic challenge. Both diseases have specific treatments and prognoses, highlighting the importance of early diagnosis. The aim of this study was to assess the diagnostic value of serum neurofilament light chain (NfL) in differentiating MMN from LMN dominant ALS.
View Article and Find Full Text PDFAn international, multispecialty, expert-based Delphi Consensus document on controversial issues in the management of patients with asymptomatic and symptomatic carotid stenosis.
J Vasc Surg
February 2024
Objective: Despite the publication of various national/international guidelines, several questions concerning the management of patients with asymptomatic (AsxCS) and symptomatic (SxCS) carotid stenosis remain unanswered. The aim of this international, multi-specialty, expert-based Delphi Consensus document was to address these issues to help clinicians make decisions when guidelines are unclear.
Methods: Fourteen controversial topics were identified.
Article Synopsis
- The study aimed to analyze the outcomes of patients who experienced ultra-early repeated thrombolysis (UERT) using recombinant tissue plasminogen activator for ischemic stroke recurrence within 10 days.
- Sixteen patients were identified, and the results showed that UERT led to significant clinical improvement in most cases, with a notable reduction in stroke severity and favorable outcomes after three months.
- However, there was a 25% incidence of intracerebral hemorrhage (ICH), including one fatality, suggesting that while UERT can be beneficial, it should be considered cautiously after assessing the associated risks.
Background: IL-6 (interleukin-6) has important roles in atherosclerosis pathophysiology. To determine if anti-IL-6 therapy warrants evaluation as an adjuvant stroke prevention strategy in patients with carotid atherosclerosis, we tested whether circulating IL-6 levels predict carotid plaque severity, vulnerability, and progression in the prospective population-based CHS (Cardiovascular Health Study).
Methods: Duplex carotid ultrasound was performed at baseline and 5 years.