Potential of neuroimaging as a biomarker in amyotrophic lateral sclerosis: from structure to metabolism.

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by motor neuron degeneration. The development of ALS involves metabolite alterations leading to tissue lesions in the nervous system. Recent advances in neuroimaging have significantly improved our understanding of the underlying pathophysiology of ALS, with findings supporting the corticoefferent axonal disease progression theory. Current studies on neuroimaging in ALS have demonstrated inconsistencies, which may be due to small sample sizes, insufficient statistical power, overinterpretation of findings, and the inherent heterogeneity of ALS. Deriving meaningful conclusions solely from individual imaging metrics in ALS studies remains challenging, and integrating multimodal imaging techniques shows promise for detecting valuable ALS biomarkers. In addition to giving an overview of the principles and techniques of different neuroimaging modalities, this review describes the potential of neuroimaging biomarkers in the diagnosis and prognostication of ALS. We provide an insight into the underlying pathology, highlighting the need for standardized protocols and multicenter collaborations to advance ALS research.

Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.

Introduction: Rimmed vacuolar myopathies (RVMs) are a group of genetically heterogeneous diseases that share histopathological characteristics on muscle biopsy, including the aberrant accumulation of autophagic vacuoles. However, the presence of non-coding sequences and structural mutations, some of which remain undetectable, confound the identification of pathogenic mutations responsible for RVMs. Therefore, we assessed the clinical profiles and muscle magnetic resonance imaging (MRI) changes in 36 Chinese patients with RVMs, emphasizing the role of muscle MRI in disease identification and differential diagnosis to propose a comprehensive literature-based imaging pattern to facilitate improved diagnostic workup. Methods: All patients presented with rimmed vacuoles with varying degrees of muscular dystrophic changes and underwent a comprehensive evaluation using clinical, morphological, muscle MRI and molecular genetic analysis. We assessed muscle changes in the Chinese RVMs and provided an overview of the RVMs, focusing on the patterns of muscle involvement on MRI. Results: A total of 36 patients, including 24 with confirmed distal myopathy and 12 with limb-girdle phenotype, had autophagic vacuoles with RVMs. Hierarchical clustering of patients according to the predominant effect of the distal or proximal lower limbs revealed that most patients with RVMs could be distinguished. GNE myopathy was the most prevalent form of RVMs observed in this study. Moreover, MRI helped identify the causative genes in some diseases (e.g., desminopathy and hereditary myopathy with early respiratory failure) and confirmed the pathogenicity of a novel mutation (e.g., adult-onset proximal rimmed vacuolar titinopathy) detected using next-generation sequencing. Discussion: Collectively, our findings expand our knowledge of the genetic spectrum of RVMs in China and suggest that muscle imaging should be an integral part of assisting genetic testing and avoiding misdiagnosis in the diagnostic workup of RVM.

Clinical effectiveness and micro-perfusion alteration of Jingui external lotion in patients with knee osteoarthritis: study protocol for a randomized controlled trial.

BACKGROUND: Knee osteoarthritis is a major cause of disability in the aging population. Based on pathological, magnetic resonance imaging (MRI) and arthroscopy studies, progressive osteoarthritis involves all tissues of the joint and includes bone marrow lesions, synovial proliferation, fat pad inflammation, and high subchondral bone turnover. Recent research suggests that abnormal perfusion in bone marrow lesions, fat pads, and subchondral bone is associated with pain in knee osteoarthritis, and that dynamic contrast-enhanced MRI is a promising method for studying micro-perfusion alteration in knee osteoarthritis. Traditional Chinese Medicine approaches have been employed for thousands of years to relieve knee osteoarthritis pain. Among herbal medicines, the Jingui external lotion is the preferred and most commonly used method in China to reduce pain in patients with knee osteoarthritis; however, there is a lack of validated evidence for its effectiveness. The purpose of this study is to explore the effectiveness of Jingui external lotion for the management of painful knee osteoarthritis in a short-term study. In addition, we will assess micro-perfusion alteration in the patellar fat pad as well as the femur and tibia subchondral bone via dynamic contrast-enhanced MRI. METHODS/DESIGN: This trial is a randomized, controlled study. A total of 168 patients will be randomized into the following two groups: 1) the Jingui external lotion group (treatment group); and 2) the placebo lotion group (control group). In both groups, lotion fumigation and external washing of the patients' knees will be administered twice a day for 14 consecutive days. Follow-up will be at regular intervals during a 4-week period with a visual analog scale to assess pain, and additional characterization with the Western Ontario and McMaster Universities Index score; rescue medication will be recorded as the extent and time pattern. In addition, micro-perfusion alteration in the patellar fat pad, femur and tibia subchondral bone will be assessed via dynamic contrast-enhanced MRI. DISCUSSION: This study will provide clinical evidence of the efficacy of Jingui external lotion in treating knee osteoarthritis, and it will be the first randomized controlled trial to investigate micro-perfusion alteration of knee osteoarthritis with Traditional Chinese Medicine external lotion via dynamic contrast-enhanced MRI. TRIAL REGISTRATION: ClinicalTrials.gov identifier: ChiCTR-TRC-14004727 ; 31 May 2014.