The Association Between Mobile App Use and Change in Functional Capacity Among Cardiac Rehabilitation Participants: Cohort Study.

Background: Cardiac rehabilitation (CR) is underused in the United States and globally, with participation disparities across gender, socioeconomic status, race, and ethnicities. The pandemic led to greater adoption of telehealth CR and mobile app use.

Objective: Our primary objective was to estimate the association between CR mobile app use and change in functional capacity from enrollment to completion in patients participating in a CR program that offered in-person, hybrid, and telehealth CR.

Reduced Exercise Capacity, Chronotropic Incompetence, and Early Systemic Inflammation in Cardiopulmonary Phenotype Long Coronavirus Disease 2019.

Background: Mechanisms underlying persistent cardiopulmonary symptoms after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection (postacute sequelae of coronavirus disease 2019 [COVID-19; PASC] or "long COVID") remain unclear. This study sought to elucidate mechanisms of cardiopulmonary symptoms and reduced exercise capacity.

Methods: We conducted cardiopulmonary exercise testing (CPET), cardiac magnetic resonance imaging (CMR) and ambulatory rhythm monitoring among adults >1 year after SARS-CoV-2 infection, compared those with and those without symptoms, and correlated findings with previously measured biomarkers.

Use of Cardiopulmonary Exercise Testing to Evaluate Long COVID-19 Symptoms in Adults: A Systematic Review and Meta-analysis.

Importance: Reduced exercise capacity is commonly reported among individuals with COVID-19 symptoms more than 3 months after SARS-CoV-2 infection (long COVID-19 [LC]). Cardiopulmonary exercise testing (CPET) is the criterion standard to measure exercise capacity and identify patterns of exertional intolerance.

Objectives: To estimate the difference in exercise capacity among individuals with and without LC symptoms and characterize physiological patterns of limitations to elucidate possible mechanisms of LC.

Cardiopulmonary exercise testing to evaluate post-acute sequelae of COVID-19 ("Long COVID"): a systematic review and meta-analysis.

Importance: Reduced exercise capacity is commonly reported among individuals with Long COVID (LC). Cardiopulmonary exercise testing (CPET) is the gold-standard to measure exercise capacity to identify causes of exertional intolerance.

Objectives: To estimate the effect of SARS-CoV-2 infection on exercise capacity including those with and without LC symptoms and to characterize physiologic patterns of limitations to elucidate possible mechanisms of LC.

Reduced exercise capacity, chronotropic incompetence, and early systemic inflammation in cardiopulmonary phenotype Long COVID.

Background: Mechanisms underlying persistent cardiopulmonary symptoms following SARS-CoV-2 infection (post-acute sequelae of COVID-19 "PASC" or "Long COVID") remain unclear. This study sought to elucidate mechanisms of cardiopulmonary symptoms and reduced exercise capacity using advanced cardiac testing.

Methods: We performed cardiopulmonary exercise testing (CPET), cardiac magnetic resonance imaging (CMR) and ambulatory rhythm monitoring among adults > 1 year after confirmed SARS-CoV-2 infection in Long-Term Impact of Infection with Novel Coronavirus cohort (LIINC; substudy of NCT04362150 ).

Clinical Outcomes and Qualitative Perceptions of In-person, Hybrid, and Virtual Cardiac Rehabilitation.

Purpose: Cardiac rehabilitation (CR) is evolving to include both in-person and virtual delivery. Our objective was to compare, in CR patients, the association of in-person, hybrid, and virtual CR with change in performance on the 6-min walk test (6MWT) between enrollment and completion.

Methods: Patients enrolled in CR between October 22, 2019, and May 10, 2021, were categorized into in-person, hybrid, or virtual groups by number of in-person and virtual visits.

Assessment of Accelerometer-Based Physical Activity During the 2017-2018 California Wildfire Seasons.

This cohort study investigates the accelerometer-based physical activity in Californians residing within 10 miles of a monitoring station that registered at least 1 day with an air quality index score greater than 200 during the 2017 to 2018 wildfire seasons.

Report of a novel ATP7A mutation causing distal motor neuropathy.

We describe a novel ATP7A gene mutation associated with distal motor neuropathy, mild connective tissue abnormalities and autonomic disturbances. Next-generation sequencing analysis of a lower-motor neuron diseases gene panel was performed in two sibs presenting with distal motor neuropathy plus an autonomic dysfunction, which main manifestations were retrograde ejaculation, diarrhea and hyperhydrosis. Probands underwent dysmorphological, neurological, electrophysiological as well as biochemical evaluations and somatic and autonomic innervation studies on skin biopsies.

Wilson's Disease and Cardiac Myopathy.

Wilson's disease is a well-characterized disorder known to cause liver and brain disease due to abnormal copper deposition. Data regarding copper infiltration of the heart is conflicting, and the risk of heart disease has not been well described. We aimed to determine whether Wilson's disease is associated with cardiac myopathy, clinically evident in the atria as atrial fibrillation (AF) and in the ventricles as heart failure (HF).

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.

Brody disease is an inherited myopathy associated with a defective function of sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase 1 (SERCA1) protein. Mutations in the ATP2A1 gene have been reported only in some patients. Therefore it has been proposed to distinguish patients with ATP2A1 mutations, Brody disease (BD), from patients without mutations, Brody syndrome (BS).

Conversion ratio between Dysport and Botox in clinical practice: an overview of available evidence.

The optimal conversion ratio between Dysport and Botox--the two botulinum neurotoxin type A products (BoNT-As) supported by the larger bulk of evidence-has been extensively debated, because of its broad medical and economic implications. The article discusses the available evidence on the conversion ratio between Dysport and Botox in adults affected by spasticity, cervical dystonia, blepharospasm and hemifacial spasm, with a focus on clinical trials that specifically addressed this issue. In addition, some suggestions on the conversion ratio between Dysport and Xeomin can be extrapolated, since Xeomin has the same efficacy and safety profile as Botox and is exchangeable with Botox with a 1:1 conversion ratio.

A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.

Limb girdle muscular dystrophy 2H is a rare autosomal recessive muscular dystrophy, clinically highly variable, caused by mutations in the TRIM32 gene. Here we describe a 35-years-old who experienced progressive muscle weakness. The muscle biopsy revealed an unspecific pattern of atrophic and hypertrophic fibers; the immunohistochemistry for several proteins was normal.

Botulinum toxin treatment for slipping rib syndrome: a case report.

Background: Slipping rib syndrome (SRS) is a musculoskeletal cause of severe and recurrent thoracic or abdominal pain. The etiology of SRS is unknown, it seems to arise from costal hypermobility with a tendency of one of the ribs (usually from 8th to 10th but also 11th and 12th have been described) to slip under the superior adjacent rib. Its prevalence is underestimated because SRS is mainly a clinical diagnosis, frequently missed.

Effect of short-term electrical stimulation before and after botulinum toxin injection.

Objective: To compare the effect of electrical stimulation applied before and after botulinum toxin injection.

Subjects: Eight healthy subjects.

Methods: Both extensor digitorum brevis muscles were injected with low fixed doses of botulinum toxin.

Time and frequency domain analysis of surface myoelectric signals during electrically-elicited cramps.

Objectives: To examine if different frequencies of electrical stimulation trigger different sized cramps in the abductor hallucis muscle and to analyze their surface electromyographic (EMG) behaviour in both time and frequency domains.

Methods: Fifteen subjects were studied. Stimulation trains of 150 pulses were applied to the muscle motor point.

Multiphasic acute disseminated encephalomyelitis or pediatric multiple sclerosis: report of an atypical case.

An international panel has recently proposed consensus definitions for pediatric multiple sclerosis and related disorders. These are important diagnostic improvements, but exceptions have been acknowledged. Further insight about clinical overlap between pediatric multiple sclerosis and all forms of relapsing acute disseminated encephalomyelitis may be gained from long-term follow-up.

A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.

Episodic ataxia type 1 (EA1) is a rare human neurological syndrome characterized by continuous myokymia and attacks of generalized ataxia that can be triggered by abrupt movements, emotional stress and fatigue. An Italian family has been identified where related members displayed continuous myokymia, episodes of ataxia, attacks characterized by myokymia only, and neuromyotonia. A novel missense mutation (F414C), in the C-terminal region of the K(+) channel Kv1.

Brain white matter damage in SCA1 and SCA2. An in vivo study using voxel-based morphometry, histogram analysis of mean diffusivity and tract-based spatial statistics.

Background And Purpose: Neurodegeneration in spinocerebellar ataxia type 1(SCA1) and 2(SCA2) is associated with white matter(WM) damage. Voxel-Based Morphometry(VBM), histogram analysis of mean diffusivity(MD) and Tract-Based Spatial Statistics(TBSS) enable an in vivo quantitative analysis of WM volume and structure. We assessed with these 3 techniques the whole brain WM damage in SCA1 and SCA2.

Acute disseminated encephalomyelitis in children: focus on relapsing patients.

This study investigated the possible prognostic factors for relapse, and the diagnostic criteria for multiple sclerosis and related disorders, in pediatric acute disseminated encephalomyelitis. The study population comprised 24 Italian children with a mean age at onset of 6.9 years, and a mean follow-up time of 52.