Valosin-containing protein (VCP) disease is an autosomal dominant multisystem proteinopathy associated with hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Myopathy frequently results in respiratory muscle weakness, leading to early mortality due to respiratory failure. We investigated the effects of a remotely administered inspiratory muscle training program in individuals with VCP disease.
View Article and Find Full Text PDFBackground And Objectives: Missense variants of the valosin-containing protein () gene cause a progressive, autosomal dominant disease termed VCP multisystem proteinopathy (MSP1). The disease is a constellation of clinical features including inclusion body myopathy (IBM), Paget disease of bone (PDB), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS), typically reported at a frequency of 90%, 42%, 30%, and 9%, respectively. The Hispanic population is currently underrepresented in previous reports of VCP myopathy.
View Article and Find Full Text PDFTibial tubercle fractures are rare injuries that occur in adolescents most commonly during athletic activities. Fractures are typically identified by physical examination and radiographs alone; however, this often underestimates the extent of injury. Soft tissue injuries are often associated with tibial tubercle fractures and can be missed by plain radiographs.
View Article and Find Full Text PDFFabry disease is an X linked disease caused by pathogenic variants in the gene. The cardiovascular and renal systems are most affected in Fabry patients and may require heart or kidney transplants in the late stages of the disease depending on severity of manifestations. Enzyme replacement therapy (ERT) has proven to delay progression of Fabry disease considerably, especially when started early in life.
View Article and Find Full Text PDFBackground: Gluteal tendinopathy is a common cause of lateral hip pain. Percutaneous ultrasonic tenotomy (PUT) has been used successfully for the treatment of tendinopathy of the elbow, knee, and ankle, but its use in the hip has not been described.
Purpose: To evaluate the efficacy of PUT in patients who did not respond to nonsurgical management of gluteal tendinopathy.
Acute colonic pseudo-obstruction (ACPO) as a result of anterior lumbar spinal surgery can result in colonic perforation. ACPO is often treated successfully with conservative measures, reserving surgical intervention for severe cases. The most severe cases can result in colonic perforation with a concomitant high mortality rate.
View Article and Find Full Text PDFBackground: Helminth and protozoan infections affect more than 1 billion children globally. Improving water quality, sanitation, handwashing, and nutrition could be more sustainable control strategies for parasite infections than mass drug administration, while providing other quality of life benefits.
Methods And Findings: We enrolled geographic clusters of pregnant women in rural western Kenya into a cluster-randomized controlled trial (ClinicalTrials.
Improved sanitation has been associated with a reduced prevalence of soil-transmitted helminth (STH) infection and has been hypothesized to prevent fecal contamination from spreading throughout the household environment. We evaluated the effect of providing households with a pit latrine with a plastic slab and drophole cover, child feces management tools, and associated behavioral messaging on reducing STH eggs in household soil. We collected soil samples from 2107 households (898 control and 1209 improved sanitation intervention households) that were enrolled in the WASH Benefits cluster randomized controlled trial in rural Kenya and performed a post-intervention analysis after two years of intervention exposure.
View Article and Find Full Text PDFThis study examined sorption of the human and veterinary antibiotic sulfamethoxazole (SMX) at environmentally relevant concentrations from laboratory clean water, surface water, stormwater, and wastewater effluent to wood and wastewater-sludge derived biochars produced under a wide range of conditions. SMX sorption by commercial powdered activated carbon (PAC) was also quantified as a benchmark. Wood-based biochar produced around 850 °C performed similarly to PAC.
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