A5072466477- Inflammatory Myopathies and Dermatomyositis
- Muscle and Compartmental Disorders
- Glycogen Storage Diseases and Myoclonus
- Genetic Neurodegenerative Diseases
- Muscle Physiology and Disorders
- Neurological disorders and treatments
- Metabolism and Genetic Disorders
- Cardiovascular Effects of Exercise
- Muscle metabolism and nutrition
- Skin Diseases and Diabetes
- Exercise and Physiological Responses
- Cancer Immunotherapy and Biomarkers
- Botulinum Toxin and Related Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- High Altitude and Hypoxia
- Pain Mechanisms and Treatments
- Electroconvulsive Therapy Studies
- Celiac Disease Research and Management
- Parkinson's Disease and Spinal Disorders
- Neurogenetic and Muscular Disorders Research
- Syphilis Diagnosis and Treatment
- Parkinson's Disease Mechanisms and Treatments
- Adipose Tissue and Metabolism
- Neurological and metabolic disorders
- Systemic Sclerosis and Related Diseases
Institute for Exercise and Environmental Medicine
2021-2025
Texas Health Dallas
2021-2025
The University of Texas Southwestern Medical Center
2008-2025
Penn Presbyterian Medical Center
2024
Southwestern Medical Center
2021-2023
Texas Woman's University
2023
Massachusetts General Hospital
2015-2023
Presbyterian Hospital
2021-2023
The University of Texas at Austin
2022-2023
Radboud University Nijmegen
2023
Evidence from the CURE Children's Hospital of Uganda (CCHU) suggests that treatment for hydrocephalus in infants can be effective and sustainable a developing country. This model has not been broadly supported or implemented due part to absence data on economic burden disease any assessment cost benefit treatment. The authors used modeling estimate annual treating at CCHU. These results were then extrapolated potential impact all cases sub-Saharan Africa (SSA).The conducted retrospective...
Primary mitochondrial diseases are clinically heterogeneous and present diagnostic challenges due to the highly variable genotype-phenotype correlation. Clinical symptoms can range from non-specific fatigue, exercise intolerance, weakness syndromic phenotypes. Though multiple testing modalities exist identify diseases, most of these tests nonspecific, or results associated with other diseases. Molecular provide an efficient path toward diagnosis, as molecular detection techniques have...
It is not known whether previous endoscopic third ventriculostomy (ETV) affects the risk of shunt failure. Different epochs hydrocephalus treatment at CURE Children's Hospital Uganda (CCHU)-initially placing CSF shunts in all patients, then attempting ETV and finally combined with choroid plexus cauterization (CPC) patients-provided opportunity to assess prior surgery affected survival.With appropriate institutional approvals, authors reviewed CCHU clinical database identify 2329 patients...
Sedentary lifestyle, chronic disease, or microgravity can cause muscle deconditioning that then has an impact on other physiological systems. An example is the nervous system, which adversely affected by decreased physical activity resulting in increased incidence of neurological problems such as pain. We sought to better understand how this might occur conducting RNA sequencing experiments biopsies from human volunteers a 5-week bed-rest study with exercise intervention arm. also used...
McArdle disease (glycogen storage type V; GSDV) is a rare genetic caused by the inability to break down glycogen in skeletal muscle due deficiency myophosphorylase. Glycolysis only partially blocked GSDV, as fibres can take up circulating glucose and convert it glucose-6-phosphate downstream of metabolic block. Because predominantly relies on anaerobic energy during first few minutes transition from rest activity, throughout more intense activities, individuals with GSDV experience...
Metabolic myopathies are a set of rare inborn errors metabolism leading to disruption in energy production. Relevant skeletal muscle, glycogen storage disease and fatty acid oxidation defects can lead exercise intolerance, rhabdomyolysis, weakness children adults, distinct from the severe forms that involve multiple-organ systems. These nonspecific, dynamic symptoms along with conditions mimic metabolic make diagnosis challenging. Clinicians shorten time by recognizing typical clinical...
Immune-related adverse events (irAE) may affect almost any organ system and occur at point during treatment with immune checkpoint inhibitors (ICI). We present a patient advanced lung cancer receiving antiprogrammed death 1 inhibitor who developed delayed-onset visual irAE treated corticosteroids. Through assessment of longitudinal biospecimens, we analyzed serial autoantibodies, cytokines, cellular populations. Months after ICI initiation preceding clinical toxicity, the broad increases in...
Pain is commonly reported in people living with myositis. This study assesses the presence of pain subtypes myositis as well frequency opioid and non-opioid medication use.A survey was developed distributed by Myositis Support Understanding, a patient-led advocacy organization, to members its group. Multivariate logistic regression analysis chi-squared tests were performed.A total 468 participants completed survey. A 423 (DM n = 183, PM 109 IBM 131) included, based on diagnosis, for final...
Background:
 Quantitative sensory testing (QST) is a subjective but reliable and quantifiable method to detect patient thresholds different stimuli. QST used measure small- large-fiber nerve function can be in conjunction with other diagnostic modalities the evaluation of peripheral neuropathy (PN). The utility distinguish among types PN, however, has not been explored. objective study was evaluate if patterns abnormalities could between PN types.
 Methods:
 This single-center...
Purpose The COVID-19 pandemic is correlated with decreased physical activity (PA). Transitioning to remote work may impact people’s acceptability and preferences for remotely delivered behavioral interventions, including PA. objective was examine perceptions of impacts on PA engagement motivation, perspectives related interventions. Design Cross-sectional small-group interview. Setting Harris County, Texas. Participants: Insufficiently active, overweight/obese adults (16 healthy [aged 25–52...
The diagnosis of primary mitochondrial myopathy is often delayed by years due to non-specific clinical symptoms as well variable testing disorders. aim this review summarize and discuss the collective findings novel insights regarding diagnosing, testing, presentation (PMM). PMM results from a disruption oxidative phosphorylation (OXPHOS) chain in mitochondria mutations DNA (mtDNA) or nuclear (nDNA). Although there are many named syndromes caused mutations, will focus on PMM, which disorders...