Background Ambulatory ECG (AECG) monitoring is pivotal to the diagnosis of arrhythmias and can be performed with near “real‐time” notification of abnormalities. There are limited data on the relative benefit of real‐time monitoring compared with traditional Holter monitoring. Methods and Results This is a retrospective observational analysis of University of Utah Health patients who underwent ambulatory ECG studies from 2010 to 2022. The study cohort was stratified by patients with an ambulatory ECG that provides real‐time event notification (non‐Holter) versus those who do not (Holter). The outcomes were cardiac implantable electronic device procedure, ablation procedure, emergency department/hospitalization visit, and initiation of anticoagulation out to 6 months. We identified 20 259 patients, 16 650 with non‐Holter studies and 3609 with Holter studies. Holter patients were younger (mean 52 versus 55, P <0.001), more often women (60.2% versus 57%, P <0.001), and had lower mean CHADS 2 ‐VA 2 Sc scores (1.7 versus 2.1, P <0.001). The median time to ablation procedure was 74 versus 72 ( P =0.5), for Holter versus non‐Holter, respectively. Median days to new cardiac implantable electronic device implantation was 54 days versus 52 ( P =0.6); initiation of anticoagulation among patients not already treated was 42 versus 31 days ( P =0.03). Time to first emergency department visit or hospitalization was 63 versus 57 ( P =0.6). In multivariable models, there were no significant differences in time to intervention between Holter and non‐Holter for each outcome. Conclusions Real‐time monitoring demonstrates mixed results in terms of reducing time to intervention, with the significant benefit limited to oral anticoagulation initiation. It is time to revisit clinical scenarios where real‐time ambulatory monitoring may not improve health care efficiency.
Background: Mobile cardiac telemetry (MCT) and event monitors are ambulatory electrocardiography (AECG) monitors to aid in the detection/diagnosis of arrhythmias. They are unique in their real-time alerts to clinicians. This contrasts with Holter monitoring, which is continuous but where results are not available until after completion of the exam, uploading, and clinician over-read. There is limited data on relative benefit for time to electrophysiology procedure and interventions. Hypothesis: Does real-time monitoring of AECG reduce the time to cardiac implantable electronic device procedure, ablation procedure, or healthcare encounter when compared to AECG without real-time monitoring? Methods: This is a retrospective observational analysis of University of Utah Health patients who underwent AECG studies from 2010-2022. The study cohort was stratified by patients with an ambulatory ECG that provides real-time event notification (CEM and MCT; hereafter Non-holter) versus those that do not (Holter). The outcomes of interest were cardiac device implantation, ablation procedure, and ER/hospitalization within 12 months, analyzed based on time-to-event using log-rank tests. Results: We identified 50 patients in the Holter group and 137 for the Non-holter group. The groups had similar baseline characteristics in terms of age, gender, and co-morbidities. The mean number of days to device implant was 68.1 and 66.36, to ablation procedure was 77.68 and 67.77, and to ER/hospital visit was 61.12 and 55.38 in the Holter and Non-holter groups respectively (Figure). Conclusion: There was not a statistically significant difference between AECG monitoring in real-time (Non-holter) and those without (Holter), however, there was a trend toward decreased time to intervention in the Non-holter group for each of the three outcomes. Future, larger cohorts may provide adequate power to determine if real-time monitoring does reduce time to the studied interventions.
Abstract Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative lysosomal storage disorders. CLN5 deficiency causes a subtype of NCL, referred to as CLN5 disease. CLN5 is a soluble lysosomal protein with an unclear function in the cell. Increased levels of the autophagy marker protein LC3-II have been reported in several subtypes of NCLs. In this report, we examine whether autophagy is altered in CLN5 disease. We found that the basal level of LC3-II was elevated in both CLN5 disease patient fibroblasts and CLN5-deficient HeLa cells. Further analysis using tandem fluorescent mRFP-GFP-LC3 showed the autophagy flux was increased. We found the alpha-synuclein (α-syn) gene SNCA was highly up-regulated in CLN5 disease patient fibroblasts. The aggregated form of α-syn is well known for its role in the pathogenicity of Parkinson’s disease. Higher α-syn protein levels confirmed the SNCA up-regulation in both patient cells and CLN5 knockdown HeLa cells. Furthermore, α-syn was localized to the vicinity of lysosomes in CLN5 deficient cells, indicating it may have a lysosome-related function. Intriguingly, knocking down SNCA reversed lysosomal perinuclear clustering caused by CLN5 deficiency. These results suggest α-syn may affect lysosomal clustering in non-neuronal cells, similar to its role in presynaptic vesicles in neurons.
Abstract The rise in popularity of competitive and recreational rock climbing, particularly following its inclusion in the 2021 Summer Olympics, has led to a corresponding increase in rock climbing-related injuries. Due to the sport's unique biomechanical demands, it often presents injuries not commonly seen in other sports. Additionally, although some injuries align with those encountered in other sports, they manifest through distinctive climbing-related mechanisms unfamiliar to many clinicians. This paper delves into 10 prevalent injuries associated with the sport, exploring both sport-specific injuries and the unique mechanisms behind commonly encountered ones. Each injury receives a comprehensive overview, detailing its clinical presentation, evaluation, specific injury mechanisms with photographic and graphic illustrations, imaging representations, and treatment considerations. This paper aims to serve as a valuable reference for clinicians dealing with rock climbing-related injuries in clinical practice.
Background. Neuronal Ceroid Lipofuscinosis, or Batten disease, is a neurodegenerative disorder that results in seizures, vision loss, vegetative state, and premature death. This project aims to understand the value of disease organizations in the management of Batten disease progression.
Methods. Seven semi-structured interviews with caregivers of children with Batten disease were conducted at a national family conference. Also, five semi-structured telephone interviews with disease organizations were conducted, two of which were Batten disease specific.
Results. Most caregiver participants reported difficulties in getting a diagnosis. All participants reported significant benefit from involvement in the Batten Disease Support and Research Association (BDSRA) and associated family conference. Some of the most challenging aspects of care centered around a lack of in-home aid, medical equipment, and the education system. The disease advocacy organizations included Rare KC, the National Organization for Rare Disorders (NORD), Global Genes, Noah’s Hope, and Taylor’s Tale. Disease organizations encourage rare disease families to thrive by providing the bridge that connects patients, physicians, and researchers. A central organization implements an avenue for individuals to share information and meet people in the rare disease community.
Conclusions. The participants provided clear examples of the benefits families received from being involved in a rare disease organization.
