Longitudinal Efficacy of Nusinersen Treatment on Health-Related Quality of Life and Independence in Children With Later-Onset Spinal Muscular Atrophy.

Introduction/aims: The rising use of disease-modifying therapy is progressively impacting the health-related quality of life (HRQoL) of patients with spinal muscular atrophy (SMA) in their daily lives. This study aimed to evaluate the changes in HRQoL and independence in children with later-onset SMA receiving longitudinal treatment with nusinersen.

Methods: Forty-nine pediatric patients with later-onset SMA (symptom onset after 6 months of age) and their caregivers were enrolled.

Health information literacy among children with spinal muscular atrophy and their caregivers.

Background: Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease that leads to multiple organ dysfunction. The advent of disease-modifying treatments makes the early diagnosis of SMA critical. Health information literacy is vital for obtaining, understanding, screening, and using health information.

Safety of risdiplam in spinal muscular atrophy patients after short-term treatment with nusinersen.

Introduction/aims: Following the approval of risdiplam, there are more possibilities for disease-modifying therapy (DMT) in children with spinal muscular atrophy (SMA). Non-treatment-naïve subjects with SMA involved in the JEWELFISH study, designed to evaluate the safety and tolerability of risdiplam, were required to undergo a washout period before receiving risdiplam. This study aims to investigate the safety of administering risdiplam in patients within 90 days of receiving treatment with nusinersen.

Analytical validation of the amplification refractory mutation system polymerase chain reaction-capillary electrophoresis assay to diagnose spinal muscular atrophy.

Objectives: Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by homozygous deletion and compound heterozygous mutations in survival motor neuron 1 (), with severity tied to the copy number of survival motor neuron 2 (). This study aimed to develop a rapid and comprehensive method for the diagnosis of SMA.

Methods: A total of 292 children with clinically suspected SMA and 394 family members were detected by the amplification refractory mutation system polymerase chain reaction-capillary electrophoresis (ARMS-PCR-CE) method, which targeted 19 reported mutations, and the results were compared with those in multiplex ligation-dependent probe amplification (MLPA).

Efficacy and safety of salbutamol in treatment of children with later-onset spinal muscular atrophy.

Objectives: To investigate the clinical efficacy and safety of salbutamol in the treatment of children with later-onset spinal muscular atrophy (SMA).

Methods: This study is a prospective single-arm phase Ⅲ clinical study. Pediatric patients with SMA type Ⅱ and Ⅲ who visited Department of Neurology, Children's Hospital, Zhejiang University School of Medicine from December 2020 to June 2022 were enrolled.

Feasibility analysis of intrathecal administration strategy of nusinersen based on Cobb angle in children with spinal muscular atrophy.

Aim: This retro-prospective observational study described the experience in lumbar puncture procedures in children with spinal muscular atrophy (SMA) with and without neuromuscular scoliosis in a single center. The technical feasibility of intrathecal nusinersen administration was the main limiting factor.

Study Design: A total of 457 technically successful intrathecal injections based on a hierarchical strategy in Cobb angle were reviewed in 81 SMA children aged 0.

The Alterations of Gut Microbiome and Lipid Metabolism in Patients with Spinal Muscular Atrophy.

Introduction: Spinal muscular atrophy (SMA) can cause multiple system dysfunction, especially lipid metabolic disorders, for which management strategies are currently lacking. Microbes are related to metabolism and the pathogenesis of neurological diseases. This study aimed to preliminarily explore the alterations in the gut microbiota in SMA and the potential relationship between altered microbiota and lipid metabolic disorders.

A comparative analysis of body composition assessment by BIA and DXA in children with type II and III spinal muscular atrophy.

Background: Body composition analysis is a valuable tool for assessing and monitoring the nutritional status of children with spinal muscular atrophy (SMA). This study was designed to compare the consistency of bioelectrical impedance analysis (BIA) and dual-energy X-ray absorptiometry (DXA), as the gold standard method for assessing body composition in clinical practice when treating children with type II and III SMA.

Methods: From 2019 to 2021, we performed a retrospective analysis of body composition by DXA and BIA measurement methods in patients with type II and III SMA treated at a Chinese tertiary children's hospital.

The alteration of left ventricular strain in later-onset spinal muscular atrophy children.

Background: Patients with spinal muscular atrophy (SMA) may suffer from multisystem injury, including an impaired cardiovascular system. However, M-mode echocardiography, the current dominant echocardiographic modality, is limited in the detection of myocardial injury. We considered the use of left ventricular strain imaging in detecting myocardial injury and explored the serum lipid profile related to cardiovascular disease in later-onset SMA children.

Association between serum zinc level and lipid profiles in children with spinal muscular atrophy.

Background And Aims: Children with spinal muscular atrophy (SMA) have a high rate of dyslipidaemia, which is a risk factor of vital importance for cardiovascular diseases in adulthood. Studies have demonstrated that the serum zinc level is associated with lipid profiles in the general population as well as in individuals diagnosed with obesity or diabetes. The purpose of this study was to evaluate the relationship between serum zinc level and lipid profiles in children with SMA.

Anxiety and depression in school-age patients with spinal muscular atrophy: a cross-sectional study.

Background: Spinal muscular atrophy (SMA) is a rare neurogenetic disease which involves multisystem dysfunctions such as respiratory, digestive, and motor disorders. Anxiety, depression and other psychological disorders often accompany severe chronic physical diseases. The aim of this study was to investigate the prevalence of anxiety and depression along with their influencing factors among school-age patients with SMA.

Twisted Light-Enhanced Photovoltaic Effect.

Twisted light carries a defined orbital angular momentum (OAM) that can enhance forbidden transitions in atoms and even semiconductors. Such attributes can possibly lead to enhancements of the material's photogenerated carriers through improved absorption of incident light photons. The interaction of twisted light and photovoltaic material is, thus, worth studying as more efficient photovoltaic cells are essential these days due to the need for reliable and sustainable energy sources.

Corrigendum: Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy.

[This corrects the article DOI: 10.3389/fgene.2021.

Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy.

Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are two common kinds of neuromuscular disorders sharing various similarities in clinical manifestations. SMA is an autosomal recessive genetic disorder that results from biallelic mutations of the survival motor neuron 1 gene (; OMIM 600354) on the 5q13 chromosome. DMD is an X-linked disorder caused by defects in the gene (OMIM 300377) on the X chromosome.

Achieving enhanced biological nitrogen removal via 2450 MHz electromagnetic wave loading on returned sludge in anaerobic-anoxic-oxic process.

To evaluate the enhancing of the biological nitrogen removal effectiveness by electromagnetic wave loading on returned sludge in the A/A/O reactor, some experiments were completed with the returned sludge loaded by 2,450 MHz electromagnetic wave. The excess sludge yield and pollutant removal effect of the system were evaluated. Results showed that stronger denitrification effect and less sludge yield were achieved.

Improvement of the sludge flocculation dewatering efficient by electromagnetic wave loading: research based on removal of bound water.

Excess sludge was loaded by 2450 MHz electromagnetic wave in this study. The mechanism of electromagnetic wave loading on the releasing of bound water before sludge flocculation dewatering was investigated through observing the changes of extracellular polymeric substances (EPS) composition, surface charge, and particle size distribution. The results showed that the 8.

Degradation of aniline in aqueous solution by dielectric barrier discharge plasma: Mechanism and degradation pathways.

The degradation of aniline solution using the dielectric barrier discharge (DBD) plasma was studied in this paper. The results indicated that the initial concentration of aniline, applied voltage and initial pH value affected the removal efficiency of aniline significantly. After 12 min with DBD plasma treatment, 90.