NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang+7 more
wiley +1 more source
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease due to a mutation in the gene encoding dystrophin synthesis. In patients, muscle damage and atrophy progresses, the ability to move independently decreases as well as respiratory and ...
T. A. Gremyakova+17 more
doaj +1 more source
Quantifying Patient Reported and Documented Compliance with Adjuncts to Venous Thromboembolism Prophylaxis [PDF]
Objectives: 1. Measure patient compliance with pharmacologic, mechanical and ambulatory prophylactic measures. 2. Evaluate for agreement between nursing documentation and patient reported compliance with mechanical and ambulatory prophylactic measures ...
Bauer, MD, Tyler M.+7 more
core +1 more source
Long‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons
ABSTRACT Objectives This ongoing, open‐label extension study is evaluating the long‐term safety, tolerability, and efficacy of givinostat, a Class I and II histone deacetylase inhibitor, in patients with Duchenne muscular dystrophy (DMD). Methods The recruited patients completed one of two prior clinical studies (one Phase 2 and one Phase 3 [EPIDYS ...
Craig M. McDonald+74 more
wiley +1 more source
Magnitude of the Difference Between Clinic and Ambulatory Blood Pressures and Risk of Adverse Outcomes in Patients With Chronic Kidney Disease. [PDF]
Background Obtaining 24-hour ambulatory blood pressure ( BP ) is recommended for the detection of masked or white-coat hypertension. Our objective was to determine whether the magnitude of the difference between ambulatory and clinic BP s has prognostic ...
Bae, Se Ri+7 more
core +1 more source
Development and Utility of Quality Metrics for Ambulatory Pediatric Cardiology in Kawasaki Disease. [PDF]
The Adult Congenital and Pediatric Cardiology (ACPC) Section of the American College of Cardiology sought to develop quality indicators/metrics for ambulatory pediatric cardiology practice.
Cotts, Timothy+11 more
core +2 more sources
Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data
ABSTRACT Objective Therapeutic development for mitochondrial diseases, rare genetic disorders with pathogenic defects of oxidative phosphorylation, is hindered by unsatisfactory outcome measures. To address this problem, we provide the first clinical application of a novel, bias‐adjusted outcome measure of acceleration across a range of subjects ...
Ian W. McKeague+8 more
wiley +1 more source
Same-Day Discharge after Non-Perforated Laparoscopic Appendectomy Is Safe
Purpose: Several single-center studies have demonstrated same-day discharge (SDD) to be safe in adults undergoing laparoscopic appendectomy (LA) for non-perforated appendicitis (NPA). The proportion of SDD appendectomy patients nationally is unknown.
Areg Grigorian+7 more
doaj +1 more source
Ambulatory total hip arthroplasty: Causes for failure to launch and associated risk factors
AimsThe volume of ambulatory total hip arthroplasty (THA) procedures is increasing due to the emphasis on value-based care. The purpose of the study is to identify the causes for failed same-day discharge (SDD) and perioperative factors leading to failed
Samuel Rodriguez+5 more
doaj +1 more source
Characteristics of Cerebral Palsy in the Midwestern US
ABSTRACT Objective Cerebral palsy (CP) is the most common lifelong motor disability worldwide. Yet, data is limited on how CP manifests in the US. Our objective was to characterize and determine factors affecting functional outcomes in a large population of young people with CP in the Midwestern US.
Susie Kim+6 more
wiley +1 more source