Treating neuromuscular diseases: unveiling gene therapy breakthroughs and pioneering future applications.

In this review, we highlight recent advancements in adeno-associated virus (AAV)-based gene therapy for genetic neuromuscular diseases (NMDs), focusing on spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). We discuss the current FDA-approved gene therapies for NMDs and provide updates on preclinical studies that demonstrate the potential of various AAV-based gene therapies to reduce SMA severity and serve as effective treatments for DMD. Additionally, we explore the transformative impact of CRISPR/Cas9 technology on the future of gene therapy for NMDs.

Optimizing DMD management in Asia: Current challenges and future directions.

Background: Since 1970, advances in Duchenne muscular dystrophy (DMD) management have significantly extended the patients' life expectancy. However, DMD remains universally fatal.

Objective: To understand the current DMD management standards and practices in Asia and to evaluate inconsistencies, unmet needs, and future directions for DMD patient management in the region.

Polygenic height prediction for the Han Chinese in Taiwan.

Human height prediction based on genetic factors alone shows positive correlation, but predictors developed for one population perform less well when applied to population of different ancestries. In this study, we evaluated the utility of incorporating non-genetic factors in height predictors for the Han Chinese population in Taiwan. We analyzed data from 78,719 Taiwan Biobank (TWB) participants and 40,641 Taiwan Precision Medicine Initiative (TPMI) participants using genome-wide association study and multivariable linear regression least absolute shrinkage and selection operator (LASSO) methods to incorporate genetic and non-genetic factors for height prediction.

Preventing confounding in observational studies in orthopedic trauma surgery through expert panels: a systematic review.

Purpose: Confounding in observational studies can be mitigated by selecting only those patients, in whom equipoise of both treatments is secured by experts' disagreement over optimal therapy.

Methods: We conducted a systematic review to identify observational studies in the field of orthopedic trauma surgery that utilized expert panels for patient inclusion in order to limit the potential for confounding.

Results: Four studies were identified that used expert panels to select participants based on expert disagreement.