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.

High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

Late-onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to progressive limb-girdle weakness and respiratory impairment. The insidious onset of non-specific early symptoms often prohibits timely diagnosis. This study aimed to validate the high-risk screening criteria for LOPD in the Chinese population.

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.

Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China.

Objective: To evaluate the effectiveness and safety of nusinersen for the treatment of 5q-spinal muscular atrophy (SMA) among Chinese pediatric patients.

Methods: Using a longitudinal, multi-center registry, both prospective and retrospective data were collected from pediatric patients with 5q-SMA receiving nusinersen treatment across 18 centers in China. All patients fulfilling the eligibility criteria were included consecutively.

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).

The effectiveness of mind-body therapy and physical training in alleviating depressive symptoms in adult cancer patients: a meta-analysis.

Purpose: The aim of this study was to assess the effectiveness of mind-body therapy (MBT) and/or physical training in alleviating depressive symptoms among adult cancer patients through a meta-analysis.

Methods: PubMed, Embase, EBSCO, Web of Science, and Cochrane Library databases were searched from up to October 21, 2023. Effect sizes, 95% confidence intervals, and other pertinent values were computed utilizing a random-effects model with Review Manager 5.

Circ_0007432 promotes non-small cell lung cancer progression and macrophage M2 polarization through SRSF1/KLF12 axis.

Circular RNAs (circRNAs) plays critical roles in non-small cell lung cancer (NSCLC) development. Herein, we illustrated the effects of circ_0007432 on malignant features of NSCLC. We found that circ_0007432 played a promoting role in NSCLC progression, lying in accelerating cell viability, migration and invasion of NSCLC cells, promoting M2 macrophage polarization, suppressing cell apoptosis of NSCLC cells, and enhancing tumor growth .

Combined Nutrition with Exercise: Fueling the Fight Against Sarcopenia Through a Bibliometric Analysis and Review.

Objective: This bibliometric analysis and review aimed to examine the current research status and trends in the combination of nutrition and exercise training for sarcopenia. Additionally, it sought to provide researchers with future research directions in this field.

Methods: Relevant publications were obtained from the Web of Science Core Collection (WoSCC) database, covering the period from January 1995 to October 2023.

Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR.

Background: Spinal muscular atrophy (SMA) is a rare autosomal recessive hereditary neuromuscular disease caused by survival motor neuron 1 (SMN1) gene deletion or mutation. Homozygous deletions of exon 7 in SMN1 result in 95% of SMA cases, while the remaining 5% are caused by other pathogenic variants of SMN1.

Methods: We analyzed two SMA-suspected cases that were collected, with no SMN1 gene deletion and point mutation in whole-exome sequencing.

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.

LINC02454 promotes thyroid carcinoma progression via upregulating HMGA2 through CREB1.

Thyroid carcinoma (THCA) is the most common malignancy in the endocrine system. Long intergenic non-coding RNA 2454 (LINC02454) exhibits an HMGA2-like expression pattern, but their relationship and roles in THCA are largely unknown. The present purpose was to delineate the roles of LINC02454 in THCA progression and its molecular mechanisms.

"Functional connector" strategy on tunable organo-vermiculites: The superb adsorption towards Congo Red.

With the increasingly worldwide concentration of environmental pollution, exploiting cost-effective adsorbents has been a research hotspot. Here we introduce novel "functional connector" amide-containing gemini surfactants (LDAB, LDAPP, LDAMP and LDABP) and apply to modify Na-vermiculite (Na-Vt) for Congo red (CR) removal. Chain amide as the functional connector in the modifier, increases 6.

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.

Inhibitory effects of a maleimide compound on the virulence factors of .

Candidiasis caused by infection has long been a serious human health problem. The pathogenicity of is mainly due to its virulence factors, which are novel targets of antifungal drugs for low risk of resistance development. In this study, we identified a maleimide compound [1-(4-methoxyphenyl)-1hydro-pyrrole-2,5-dione, MPD] that exerts effective anti-virulence activity.

Intestinal bacteria-a powerful weapon for fungal infections treatment.

The morbidity and mortality of invasive fungal infections are rising gradually. In recent years, fungi have quietly evolved stronger defense capabilities and increased resistance to antibiotics, posing huge challenges to maintaining physical health. Therefore, developing new drugs and strategies to combat these invasive fungi is crucial.

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.