University Dermatology

Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trial.

Background FIREFISH was a multicentre, open-label, two-part, phase 2 trial that assessed the safety, tolerability, pharmacokinetics, pharmacodynamics, and efficacy of risdiplam in children with type 1 spinal muscular atrophy and two SMN2 copies, aged 1-7 months at enrolment. Part...

Cerebellar Atrophy in Pediatric-Onset Opsoclonus-Myoclonus-Ataxia Syndrome: A Large International Cohort Study.

Background And Objectives Pediatric-onset opsoclonus-myoclonus-ataxia syndrome (POOMAS) is a rare, neuroinflammatory syndrome that targets the cerebellum and can cause irreversible cerebellar structural changes, namely cerebellar atrophy. We investigated the frequency of cerebell...

VQ-Wave: A Physics-Driven Spatiotemporal Deep Learning Approach for Noncontrast-Enhanced Lung Ventilation and Perfusion MRI.

Purpose To develop a robust deep learning framework for noncontrast-enhanced functional lung MRI, overcoming the limitations of spectral decomposition in the presence of physiological nonstationarity.Methods We introduce VQ-Wave (Ventilation/Q-perfusion Waveform-based Assessment...

Polynucleotides Attenuate Atopic Dermatitis-like Inflammatory Signaling in Keratinocytes and Macrophages

Background: Atopic dermatitis (AD) is a persistent and recurring skin disease characterized by epidermal barrier dysfunction, immune dysregulation, and elevated expression of proinflammatory mediators. We investigated the anti-inflammatory potential of polynucleotides (PN), highl...

Functional Outcomes and Safety of Endovascular Thrombectomy in Pediatric Acute Ischemic Stroke With Cardiac Abnormalities.

Background And Objectives Cardiac abnormalities are among the most common and complex risk factors of pediatric acute ischemic stroke (AIS). Although endovascular treatment (EVT) is increasingly used in children, uncertainty persists regarding its safety and effectiveness in pati...