Real-World Data in Children with Spinal Muscular Atrophy Type 1 on Long-Term Ventilation Receiving Gene Therapy: A Prospective Cohort Study.

Patients with spinal muscular atrophy type 1 (SMA-1) requiring invasive ventilation can be eligible for gene therapy if they tolerate at least 8 h off ventilation per day. We aimed to assess the short-term safety and efficacy of gene therapy (onasemnogene abeparvovec; Zolgensma) on respiratory function in SMA-1 patients ventilated via tracheostomy pre-gene therapy. A prospective cohort study included 22 patients.

Subglottic Hemangioma: A Hidden Cause of an Infant's Respiratory Distress.

Subglottic hemangiomas are uncommon forms of infantile vascular tumors often misdiagnosed due to symptom overlap with other conditions like laryngomalacia, bronchiolitis, and asthma. Early and accurate diagnosis is vital for effective management. This case report discusses a unique presentation of subglottic hemangioma in a three-month-old infant, highlighting its diagnostic challenge and management.

Onasemnogene abeparvovec gene therapy for spinal muscular atrophy: A cohort study from the United Arab Emirates.

Introduction/aims: Spinal muscular atrophy (SMA) manifests with progressive motor neuron degeneration, leading to muscle weakness. Onasemnogene abeparvovec is a US Food and Drug Administration-approved gene replacement therapy for SMA. This study aimed to present short-term data of children in the United Arab Emirates (UAE) treated with onasemnogene abeparvovec, particularly in the context of children requiring invasive ventilatory support via tracheostomy.

Vibrational spectrum of Granular packings with random matrices.

The vibrational spectrum of granular packings can be used as a signature of the jamming transition, with the density of states at zero frequency becoming nonzero at the transition. It has been proposed previously that the vibrational spectrum of granular packings can be approximately obtained from random matrix theory. Here, we show that the autocorrelation function of the density of states shows good agreement between dynamical numerical simulations of frictionless bead packs near the jamming point and the analytic predictions of the Laguerre orthogonal ensemble of random matrices; there is clear disagreement with the Gaussian orthogonal ensemble, establishing that the Laguerre ensemble correctly reproduces the universal statistical properties of jammed granular matter and excluding the Gaussian orthogonal ensemble.