Association between under-dose of enzyme replacement therapy and quality of life in adults with late-onset Pompe disease in China: A retrospective matched cohort study.

Background: Due to the high cost of enzyme replacement therapy (ERT), most of adults with late-onset Pompe disease (LOPD) who received ERT used the medication with insufficient dosefs in China.

Objective: To compare the change in quality of life (QoL) between adults with LOPD receiving under-dose ERT and no ERT, and identify factors associated with the change of QoL.

Methods: A retrospective matched cohort study was conducted among adult patients with LOPD in a nationwide Pompe registry in China.

Clinical characteristics and predisposing factors of lung metastasis in sacral chordoma: a cross-sectional cohort study of 221 cases.

Introduction: Limited studies are available on the topic of lung metastasis in sacral chordoma. The primary objective of this study was to investigate the prevalence, characteristics, associated factors, and prognosis of lung metastasis in sacral chordoma.

Methods: A total of 221 cases with primary sacral chordoma, all of whom underwent surgical resection at our center, were included in this study.

NETosis in tumour microenvironment of liver: From primary to metastatic hepatic carcinoma.

Background: Hepatocellular carcinoma is a common and highly lethal tumour. The tumour microenvironment (TME) plays an important role in the progression and metastasis of hepatocellular carcinoma (HCC). A cell death mechanism, termed NETosis, has been found to play an important role in the TME of HCC.

Aberrant Immune Features after Recovery from COVID-19 in Patients with Systemic Lupus Erythematosus and Other Autoimmune Diseases.

Considering the large number of individuals who have already been infected and may have reinfection, the post-infection effects of COVID-19 are of great importance for clinical practice and predicting disease trends. However, our understanding of the potential long-term effects, particularly on immunity, after recovering from COVID-19 remains limited. The aim of this study was to investigate the abnormal immunological factors that contribute to the prolonged immunological effects of COVID-19.

A luciferase reporter mouse model to optimize in vivo gene editing validated by lipid nanoparticle delivery of adenine base editors.

The rapid development of CRISPR genome editing technology has provided the potential to treat genetic diseases effectively and precisely. However, efficient and safe delivery of genome editors to affected tissues remains a challenge. Here, we developed luminescent ABE (LumA), a luciferase reporter mouse model containing the R387X mutation (c.

Effectiveness of an adapted physical activity intervention on health-related physical fitness in adolescents with intellectual disability: a randomized controlled trial.

This study aimed to examine the effects of an adapted physical activity (APA) intervention on health-related physical fitness (HRPF) in adolescents with intellectual disability (ID). With a randomized controlled trial design, adolescents aged 12-18 years, with mild and moderate ID, and being overweight and obese were recruited and randomly assigned to either an intervention or a control group. The APA intervention consisted of overall moderate intensity aerobic and resistance exercise, with a duration of 45 min/session, a frequency of 2 sessions/week, and lasting for 9 months.

The Relationships between Parenting Practices and Child Health-Related Behaviors in Children with Intellectual Disability: The Moderating Role of Child Body Weight Status.

This study aimed to examine the associations between parenting practices and child health-related behaviors, and the moderating role of child body weight status in children with intellectual disability (ID). A cross-sectional study was conducted among a sample of children with ID in Hong Kong; 440 participants were included in this study. All the variables investigated were collected from questionnaires, except body weight status, which was objectively measured.

Promoting Physical Activity among Workers: A Review of Literature and Future Directions on Developing Theory-Based Interventions.

Insufficient physical activity (PA) has been identified as a leading risk factor for premature and all-cause death, as well as non-communicable diseases. Employees, especially those with low occupational PA, are more vulnerable to physical inactivity, and studies in this population are scarce. However, employees may receive benefits for both health and work productivity from PA.

Effects of a School-Based Physical Activity Intervention for Obesity, Health-Related Physical Fitness, and Blood Pressure in Children with Intellectual Disability: A Randomized Controlled Trial.

Children with intellectual disability (ID) are more vulnerable to health conditions than their typically developing peers. Evidence of effective interventions is scarce. A randomized controlled trial was conducted in 30 overweight and obese children with intellectual disability (ID) in China to evaluate a 12-week school-based physical activity intervention for obesity, health-related physical fitness (HRPF), and blood pressure.

Developing the health state classification system for a condition-specific preference-based measure for patients with myasthenia gravis.

Purpose: This study aimed to generate the health state classification system (HCS) of a condition-specific preference-based measure to capture the health-related quality of life (HRQoL) of patients with myasthenia gravis (MG) from the 15-item Myasthenia Gravis Quality of Life Scale (MG-QoL15r).

Materials And Methods: An HCS was derived from the MG-QoL15r in a large sample of 1739 patients with MG based on psychometric analysis, including factor analysis, item response theory analysis, and discussions with experts. Reliability, construct and convergent validity, and item fit of the HCS were further assessed using another sample.

Hypertension and Associated Risk Factors among Children with Intellectual Disability: A Cross-Sectional Study.

To investigate the prevalence of hypertension and associated risk factors in Chinese children with intellectual disability, a cross-sectional study was conducted in a sample of 558 children with intellectual disability aged 6-18 years in Hong Kong, and 452 (81.0%) with valid data were included in the data analysis. Blood pressure was measured according to a standard protocol.

Predictors and prognostic stratification for lupus low disease activity state: results from a prospective clinical trial.

Objective: To identify predictors for lupus low disease activity state (LLDAS), early-achieved LLDAS and long-term disease activity, and to refine a prognostic stratification tool for use in active SLE patients.

Method: A total of 245 active SLE patients were enrolled, followed up quarterly from 2014 to 2016. LLDAS-50 was defined as the maintenance of LLDAS for ≥50% of the observed time.

Lipid-Nanoparticle-Based Delivery of CRISPR/Cas9 Genome-Editing Components.

Gene editing mediated by CRISPR/Cas9 systems is due to become a beneficial therapeutic option for treating genetic diseases and some cancers. However, there are challenges in delivering CRISPR components which necessitate sophisticated delivery systems for safe and effective genome editing. Lipid nanoparticles (LNPs) have become an attractive nonviral delivery platform for CRISPR-mediated genome editing due to their low immunogenicity and application flexibility.

Interventions for health-related physical fitness and overweight and obesity in children with intellectual disability: Systematic review and meta-analysis.

Background: Poor health-related physical fitness (HRPF) and overweight and obesity are common health problems for children with intellectual disability. This study aimed to review existing lifestyle intervention studies, and identify effective strategies for this population.

Methods: A systematic search was undertaken in three databases.

Increasing the Targeting Scope of CRISPR Base Editing System Beyond NGG.

Genome editing provides a new therapeutic strategy to cure genetic diseases. The recently developed CRISPR-Cas9 base editing technology has shown great potential to repair the majority of pathogenic point mutations in the patient's DNA precisely. Base editor is the fusion of a Cas9 nickase with a base-modifying enzyme that can change a nucleotide on a single strand of DNA without generating double-stranded DNA breaks.

Effectiveness of an adapted physical activity intervention for weight management in adolescents with intellectual disability: A randomized controlled trial.

Objective: To evaluate the effectiveness of a 9-month school-based adapted physical activity (APA) program for reducing weight among adolescents with intellectual disability (ID).

Methods: In this randomized controlled trial, adolescents with ID, aged 12-18 years, who were overweight/or with obesity were randomly assigned into intervention and control groups. The APA intervention consisted of aerobic and resistance exercises with an overall moderate intensity and was delivered at a frequency of two sessions per week for 9 months.

Patient-Identified Problems and Influences Associated With Diagnostic Delay of Acromegaly: A Nationwide Cross-Sectional Study.

Background: Insidious-onset acromegaly may easily be overlooked by non-specialists of acromegaly and cause diagnostic delay. This study aims to examine the association between diagnostic delay and advice from doctors before any confirmed diagnosis and subsequent comorbidities, and elicit patient-perceived reasons for misdiagnoses.

Methods: An online nationwide cross-sectional study was conducted through China Acromegaly Patient Association.

Psychometric evaluation of the Fear of Cancer Recurrence Inventory (FCRI) and development of a short version in patients with follicular lymphoma.

Purpose: To evaluate the psychometric properties of the Chinese Fear of Cancer Recurrence Inventory (FCRI-C) in follicular lymphoma (FL) survivors.

Materials And Methods: A nationwide cross-sectional study was conducted online between July and September 2020. The following psychometric properties of the FCRI-C were evaluated: construct, convergent, and discriminant validity, and reliability.

Mapping of the acromegaly quality of life questionnaire to ED-5D-5L index score among patients with acromegaly.

Objective: This study aimed to develop a mapping function that links the acromegaly quality of life (AcroQoL) questionnaire to EQ-5D-5L to obtain a preference-based utility value to inform economic evaluation.

Methods: A nationwide cross-sectional questionnaire survey among patients with acromegaly was conducted online in China during 17 December 2019 to 6 January 2020. The study sample was randomly divided into a training set and a validation set.

Evaluating the psychometric properties of the EQ-5D-5L and SF-6D among patients with haemophilia.

Objective: The aim of this study was to evaluate the psychometric properties of the EQ-5D-5L and SF-6D, and to compare their performance among patients living with haemophilia in China.

Methods: A total of 875 Chinese patients completed the EQ-5D-5L, SF-6D, and Haem-A-QoL questionnaires. Construct validity of the EQ-5D-5L and SF-6D dimensions and indices was assessed by testing hypotheses relating these measures to Haem-A-QoL and clinical measures.

Effects of a School-Based Physical Activity Intervention for Obesity and Health-Related Physical Fitness in Adolescents With Intellectual Disability: Protocol for a Randomized Controlled Trial.

Background: Childhood obesity accompanied by lower levels of health-related physical fitness (HRPF) is a major threat to public health both internationally and locally. Children with intellectual disability, especially adolescents, have a higher risk of being overweight/obese and having poor HRPF levels. Therefore, more interventions are needed to help this population attain their optimal health levels.

Patient Characteristics, Diagnostic Delays, Treatment Patterns, Treatment Outcomes, Comorbidities, and Treatment Costs of Acromegaly in China: A Nationwide Study.

Purpose: Acromegaly is a rare, intractable endocrine disease. We aimed to describe the patient characteristics, diagnostic delays, treatment patterns, treatment outcomes, comorbidities and treatment costs of acromegaly in China.

Methods: This is a nationwide cross-sectional study.

Quality of Life and its Determinants in Patients With Treated Acromegaly: A Cross-Sectional Nationwide Study in China.

Context: Quality of life (QoL) continues to be impaired in acromegaly after treatment.

Objective: We conducted the first nationwide survey assessing QoL status among Chinese patients with treated acromegaly and explored correlations with clinical parameters, treatment modalities, and outcomes.

Design: Cross-sectional study.

Gender differences in quality of life among patients with myasthenia gravis in China.

Background: Myasthenia gravis (MG), a chronic neuromuscular disorder, can adversely affect patients' health-related quality of life (HRQoL), especially in women. The study aimed to evaluate the difference in HRQoL of women and men MG patients and explore the factors that mediate the relationship between gender and HRQoL.

Methods: A cross-sectional study was conducted among 1815 patients with MG in China.

A blended intervention to promote physical activity, health and work productivity among office employees using intervention mapping: a study protocol for a cluster-randomized controlled trial.

Background: Regular participation in moderate-to-vigorous physical activity (MVPA) is related to decreased risk of morbidity and mortality. Among working populations, lack of MVPA may also be a risk factor for absenteeism and presenteeism. Both traditional workplace-based and web-based interventions have been suggested as being effective in promoting participation MVPA, health-related outcomes, and work-related productivity.