Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by biallelic mutations in the SMN1 gene, leading to progressive motor neuron degeneration, muscle weakness and atrophy due to survival motor neuron (SMN) protein deficiency. The Taiwan Child Neurology Society convened 17 pediatricians with extensive clinical experience in SMA to establish a consensus on gene therapy for SMA in Taiwan. Epidemiological data indicate that approximately one in 48 individuals in Taiwan is an SMA carrier, and one in 17,181 newborns is affected. The advent of three FDA-approved disease-modifying therapies-onasemnogene abeparvovec, nusinersen, and risdiplam-has markedly improved therapeutic prospects. Early intervention in presymptomatic infants significantly enhances motor development and the ability to walk independently. In 2023, onasemnogene abeparvovec was officially included in Taiwan's National Health Insurance, reducing the financial burden on patients and improving prognosis. This consensus recommends incorporating SMA into the newborn screening program for early diagnosis and prompt treatment, and emphasizes that gene therapy should be evaluated based on SMN2 copy number and clinical condition. Presymptomatic treatment is critical for optimal motor outcomes, and multidisciplinary care teams are essential for comprehensive long-term management.
Yuh-Jyh Jong, Yin-Hsiu Chien, Wen-Chen Liang et al.· Journal of the Formosan Medi...· 0 citations
Individuals with asymptomatic SARS-CoV-2 infection can unknowingly transmit the virus, yet identifying such subclinical infections in post-vaccinated populations remains challenging. We conducted a longitudinal study of 129 infection-naïve vaccine recipients immunized with various combinations of SARS-CoV-2 spike (S) protein vaccine platforms. Sera were collected before the first dose (v1), at 2 weeks (v7) and 6 months (v8) after the third dose. Taiwan’s first major COVID-19 outbreak occurred between v7 and v8. We measured anti-nucleocapsid (anti-N) and anti-S IgG antibody titers by ELISA and assessed virus-neutralizing activity using live virus and pseudovirus assays. By developing an iterative serial screening method, we identified asymptomatic breakthrough (post-vaccination) infections among unconfirmed cases. Our v7-v8 paired cohort resolved into three distinct groups: confirmed cases (21%), asymptomatic breakthrough infections (17%), and uninfected subjects (62%). In normalized v8 sera, confirmed cases exhibited an anti-S+++ (high) /anti-N+++ (high) phenotype, while uninfected subjects showed an anti-S+ (low)/anti-N+(baseline) phenotype. Statistical analysis validated a distinct asymptomatic group characterized by an antibody profile anti-S++ (intermediate) /anti-N+ (baseline). This approach may enable more accurate estimates of vaccine efficacy and infection prevalence. In a spike-vaccinated population, anti-N antibody is more a potential specific marker for COVID-19 symptomatic disease than an ideal marker for SARS-CoV-2 infection. To our knowledge, this is the first preliminary report of identification of asymptomatic breakthrough infection from a well-vaccinated population using self-matched longitudinal pairs of serum samples.
C. Shih, You-Zhen Liao, Che-Yu Hsu et al.· Journal of Biomedical Scienc...· 0 citations
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