The Influence of Diet and Exercise on the Physical Health of Affected Individuals with VCP Disease

While there is no curative treatment for the Inclusion body myopathy, Paget disease of bone and/ or frontotemporal dementia (IBMPFD) disorder, it is worthwhile to investigate alternate therapies that may slow the progression of the disease and improve the quality of life in this patient population. Therefore, this study aims to evaluate the impact of diet and exercise changes on the Quality of Life questionnaire. We assessed data from the questionnaire in 30 individuals (mean age 50.86 years; range 27-65 years; 16 Males, 14 Females) that participated in the clinical study of Valosin Containing Protein (VCP) disease. Eleven affected individuals consumed a high fat/sugar diet and 15 low fat/sugar diet of 4.09±0.25 and 1.53±0.13 servings/day respectively. Eleven individuals reported not exercising and 12 reported moderate exercise of 2.44±0.74 hours/week. In this cohort we found significantly higher mean physical health domain score for all those who exercised (P=.02) and surprisingly in those who had a high fat/sugar diet (P=.01). In the high fat/sugar diet group there was a significantly greater ability to walk; greater perceived muscle strength in arms and legs (P=.03; P=.02 and P= .02 respectively). Therefore lifestyle changes with exercise training and a higher fat/ sugar diet may have a beneficial effect in affected individuals with VCP disease. Nevertheless, larger studies with further research are needed to confirm these preliminary studies before making clinical practice recommendations.

Alteration of Microbial Communities Colonizing Leaf Litter in a Temperate Woodland Stream by Growth of Trees Under Conditions of Elevated Atmospheric CO\u3csub\u3e2\u3c/sub\u3e

Elevated atmospheric CO2 can cause increased carbon fixation and altered foliar chemical composition in a variety of plants, which has the potential to impact forested headwater streams because they are detritus-based ecosystems that rely on leaf litter as their primary source of organic carbon. Fungi and bacteria play key roles in the entry of terrestrial carbon into aquatic food webs, as they decompose leaf litter and serve as a source of nutrition for invertebrate consumers. This study tested the hypothesis that changes in leaf chemistry caused by elevated atmospheric CO2 would result in changes in the size and composition of microbial communities colonizing leaves in a woodland stream. Three tree species, Populus tremuloides, Salix alba, and Acer saccharum, were grown under ambient (360 ppm) or elevated (720 ppm) CO2, and their leaves were incubated in a woodland stream. Elevated-CO2 treatment resulted in significant increases in the phenolic and tannin contents and C/N ratios of leaves. Microbial effects, which occurred only for P. tremuloides leaves, included decreased fungal biomass and decreased bacterial counts. Analysis of fungal and bacterial communities on P. tremuloides leaves via terminal restriction fragment length polymorphism (T-RFLP) and clone library sequencing revealed that fungal community composition was mostly unchanged by the elevated-CO2 treatment, whereas bacterial communities showed a significant shift in composition and a significant increase in diversity. Specific changes in bacterial communities included increased numbers of alphaproteobacterial and cytophaga-flavobacter-bacteroides (CFB) group sequences and decreased numbers of betaproteobacterial and firmicutes sequences, as well as a pronounced decrease in overall Gram-positive bacterial sequences

A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation

Highlights • We compared MRI and neuropsychological test data in twins discordant for VCP mutation. • Affected twin revealed rapid cognitive decline in a span of 1 year. • FTD related cognitive features may precede behavioral changes in VCP disease. • Cognitive-behavioral impairment may be missed on routine neurological exam and MMSE. • Need for a dedicated screening measure to recognize the neurological impairment. ARTICLE IN PRESS Please cite this article in press as: Abhilasha Surampalli, Brian T. Gold, Charles Smith, Rudy J. Abstract Inclusion body myopathy, Paget disease of bone and/or frontotemporal dementia is an autosomal dominant disease caused by mutations in the Valosin Containing Protein (VCP) gene. We compared clinical findings including MRI images and neuropsychological assessment data in affected and unaffected twin brothers aged 56 years from a family with the p.R155C VCP gene mutation. The affected twin presented with a 10 year history of progressive proximal muscle weakness, difficulty swallowing, gastroesophageal reflux, fecal incontinence, and peripheral neuropathy. Comprehensive neuropsychological testing revealed rapid cognitive decline in the absence of any behavioral changes in a span of 1 year. This case illustrates that frontotemporal dementia related cognitive impairment may precede behavioral changes in VCP disease as compared with predominance of behavioral impairment reported in previous studies. Our findings suggest that there is a need to establish VCP disease specific tools and normative rates of decline to detect pre-clinical cognitive impairment among affected individuals

COVID-19 infection in patients with late-onset Pompe disease.

Introduction/aimsSevere acute respiratory syndrome coronavirus-2 2019 (SARS-CoV2/COVID-19) is frequently more severe in individuals with pre-existing respiratory and cardiovascular conditions. The impact on patients with neuromuscular disorders is of concern, but remains largely unknown. Late-onset Pompe disease (LOPD) is a lysosomal-storage disorder characterized by progressive skeletal and respiratory muscle degeneration. Mortality is typically caused by respiratory failure. We examined the impact of COVID-19 on these patients.MethodsThis is a case series of four patients with LOPD who contracted COVID-19.ResultsAll patients had a mild/moderate illness from COVID-19 and did not require hospitalization. Neurological worsening occurred in one, with no change in physical ability in the other three, and respiratory symptoms remained stable in all four.DiscussionCOVID-19 infection can result in a benign course in some patients with LOPD. However, individuals with LOPD remain at high risk and should receive COVID-19 vaccinations and exercise precautions to avoid exposure to COVID-19 infection