Citations

Trunk and pelvis range of motion (ROM) is essential to perform activities of daily living. The ROM may become limited with aging or with neuromusculoskeletal disorders. Inertial measurement units (IMU) with out-of-the box software solutions are increasingly being used to assess motion. We hypothesize that the accuracy (validity) and reliability (consistency) of the trunk and pelvis ROM during steady-state gait in normal individuals as measured using the Opal APDM 6 sensor IMU system and calculated using Mobility Lab version 4 software will be comparable to a gold-standard optoelectric motion capture system. Thirteen healthy young adults participated in the study. Trunk ROM, measured using the IMU was within 5–7 degrees of the motion capture system for all three planes and within 10 degrees for pelvis ROM. We also used a triad of markers mounted on the sternum and sacrum IMU for a head-to-head comparison of trunk and pelvis ROM. The IMU measurements were within 5–10 degrees of the triad. A greater variability of ROM measurements was seen for the pelvis in the transverse plane. IMUs and their custom software provide a valid and reliable measurement for trunk and pelvis ROM in normal individuals, and important considerations for future applications are discussed.

Background: In this systematic review, we assessed the therapeutic efficacy and safety of Clostridium histolyticum collagenase (CCH) and tissue subcision (TS) for treating cellulite, which ranges from subtle to pronounced lesions. Methods: A systematic review was performed following PRISMA guidelines for CCH and TS treatment to the thigh and gluteal regions. A proportion meta-analysis was then conducted using Stata statistical software. Results: A total of 14 studies were incorporated into the final analysis. Nine focused on TS and five on CCH injection, collectively reporting outcomes for 1254 patients. Of these, 465 received CCH injection and 789 underwent subcision. For bruising, rates were 89% [95% confidence interval (CI), 71%–96%] with CCH injection and 99% (95% CI, 85%–99%) for subcision; pain requiring analgesic was reported at 74% (95% CI, 55%–87%) for CCH and 60% (95% CI, 43%–76%) for subcision; both showed induration at 7% (95% CI, 5%–11% for CCH, 95% CI, 2%–25% for subcision), whereas skin discoloration was higher post-CCH injection at 16% (95% CI, 10%–26%) compared with 7% (95% CI, 5%–10%) postsubcision. Conclusions: Both CCH and TS seem effective treatments for cellulite. However, upon evaluating the adverse outcomes between the two modalities, subcision demonstrated a higher incidence of bruising, albeit similar rates of induration compared with CCH injection. Conversely, the CCH injection group manifested a higher propensity for pain requiring analgesia and notably exhibited increased instances of skin discoloration compared with their subcision patient group. Further standardized research is crucial for more informed cellulite treatment decisions and for comparing efficacy, safety, and cost-effectiveness between TS and CCH.

Abstract Alpha-tubulin 4A encoding gene (TUBA4A) has been associated with familial amyotrophic lateral sclerosis and frontotemporal dementia, based on identification of likely pathogenic variants in patients from distinct amyotrophic lateral sclerosis and frontotemporal dementia cohorts. By screening a multicentric French cohort of 448 unrelated probands presenting with cerebellar ataxia, we identified ultra-rare TUBA4A missense variants, all being absent from public databases and predicted pathogenic by multiple in silico tools. In addition, gene burden analyses in the 100 000 Genomes project (100KGP) showed enrichment of TUBA4A rare variants in the inherited ataxia group compared to controls [odds ratio: 57.0847 (10.2−576.7); P = 4.02 ×10−7]. Taken together, we report 12 patients presenting with spasticity and/or cerebellar ataxia and harbouring a predicted pathogenic TUBA4A missense mutation, including five confirmed de novo cases and a mutation previously reported in a large family presenting with spastic ataxia. Cultured fibroblasts from three patients harbouring distinct TUBA4A missense showed significant alterations in microtubule organization and dynamics, providing insight of TUBA4A variants pathogenicity. Our data confirm the identification of a hereditary spastic ataxia disease gene with variable age of onset, expanding the clinical spectrum of TUBA4A associated phenotypes.

AbstractBackgroundThe G2019S leucine‐rich repeat kinase 2 (LRRK2) gene mutation is an important and commonly found genetic determinant of Parkinson's disease (PD). The neuropathological findings associated with this mutation have thus far been varied but are most often associated with Lewy body (LB) pathology.ObjectiveDescribe a case of clinical Parkinson's disease with levodopa responsiveness found to have LRRK2 mutations and the absence of Lewy bodies.MethodWe present an 89‐year‐old man with a 10‐year history of slowly progressive parkinsonism suspected to be secondary to Parkinson's disease.ResultsNeuropathological evaluation revealed nigral degeneration without Lewy bodies or Lewy neurites, but there were frequent tau‐immunopositive neurites and astrocytes in the putamen and substantia nigra, neocortical glial tau positive astrocytes associated with aging‐related tau astrogliopathy (ARTAG), as well as neurofibrillary tangles, beta amyloid plaques, and amyloid angiopathy typical of advanced Alzheimer's disease. G2019S LRRK2 homozygous mutations were found.ConclusionThis case illustrates that levodopa‐responsive clinical PD caused by G2019S LRRK2 mutations can occur without Lewy bodies.