Musculoskeletal Diseases Commons^™

Functional Validation Of Novel Compound Heterozygous Variants In B3gat3 Resulting In Severe Osteopenia And Fractures: Expanding The Disease Phenotype., Florian Job, Shuji Mizumoto, Laurie Smith, Natario Couser, Ashley Brazil, Howard Saal, Melanie Patterson, Margaret Gibson, Sarah E. Soden, Neil A. Miller, Isabelle Thiffault, Carol J. Saunders, Shuhei Yamada, Katrin Hoffmann, Kazuyuki Sugahara, Emily G. Farrow

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: A new disease class of syndromes, described as linkeropathies, which are derived from defects in the glycosaminoglycan-linker region as well as glycosaminoglycan-side chains of proteoglycans is increasingly being recognized as a cause of human disease. Proteoglycans are an essential component of the extracellular matrix. Defects in the enzymatic process of proteoglycan synthesis broadly occur due to the incorrect addition of side chains. Previously, homozygous missense variants within the B3GAT3 gene encoding beta 1,3 glucuronyltransferase 3(GlcAT-I) responsible for the biosynthesis of glycosaminoglycans have been described in 7 individuals.

CASE PRESENTATION: In this study, a 4-year-old patient with a severe phenotype …

See, I’Ve Grown: A Service Delivery Model For Young Adults With Cleft/Lip Palate, Brenda Louw, Linda Vallino

ETSU Faculty Works

We compare the health needs between children and young adults with CL/P. Patient-reported experiences about the impact of a cleft are described. A service delivery model integrating quality of life into the ICF framework is presented. Lastly, transition of care for the young adult with CL/P is highlighted.

Nutrition Students’ Perception Of The Role Of The Slps In Treating People Living With Hiv/Aids, Stephanie Bare, Natalie Dubin, Haley Hawks, Kathleen Quinn, Brittany Ratliff, Brenda Louw

ETSU Faculty Works

This project explores nutrition students’ perceptions of SLPs' and Nutritionists’ role in healthcare needs of PLWHA through survey research. The results will describe participants’ perceptions of the SLPs' and Nutritionists’ roles in the healthcare needs of PLWHA. Recommendations are made regarding interprofessional training curricula for SLP and Nutrition students.

The Icf-Cy As Framework For International Collaboration To Improve Services For Children With Communication Disorders, Brenda Louw, Juan Bornman

ETSU Faculty Works

The purpose of this presentation is to describe the application of The International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY) (WHO, 2007) as a framework for international collaboration with the aim of translating an outcomes measure and to field test the clinical applicability and cultural validity thereof.

When It Isn’T Always Lyme: Expanding The Differential Diagnosis For Acute-Onset Polyarthralgia In The West Virginia Eastern Panhandle, Natalie A. Moffett, Rosemarie Lorenzetti

Marshall Journal of Medicine

This case presentation discusses a 36 year-old female animal care worker presenting with an acute-onset polyarthropathy during the summer months in a Lyme endemic region. Though she appeared to be a good candidate for the diagnosis of Lyme borreliosis, her screening serology reported negative results and alternative diagnoses were considered. Her subsequent diagnosis with parvovirus B19 acts to remind the general practitioner to have confidence in the accuracy of a negative Lyme screen and, upon negative result, to expand the differential to include less common infections including parvovirus B19. It also highlights the need to remember parvovirus B19 in a …

A Comparison Of Cervical And Trunk Musculoskeletal Characteristics Between Female And Male Army Helicopter Pilots, Takashi Nagai, Karen A. Keenan, John P. Abt, Timothy C. Sell, Brian W. Smalley, Michael D. Wirt, Scott M. Lephart

International Journal of Aviation, Aeronautics, and Aerospace

Introduction: Neck pain (NP) and low back pain (LBP) are prevalent among military helicopter pilots. Although there have been few studies on sex differences in the NP/LBP prevalence in this population, females are shown to be at a greater risk of NP/LBP in civilian studies. This disparity may be due to musculoskeletal characteristics differences that predispose females for NP/LBP. The purpose of this study was to compare cervical and trunk musculoskeletal characteristics between male and female pilots. Methods: A total of 8 female pilots (Age: 27.6 ± 4.2yrs, HT: 166.1 ± 7.7cm, WT: 67.9 ± 10.6kg) were tested, and they …

Statin Therapy For Elderly Patients Should Be Assessed For Each Individual, Raymond Gong

Clinical Research in Practice: The Journal of Team Hippocrates

A critical appraisal and clinical application of Shepherd J, Blauw GJ, Murphy MB, et al. Pravastatin in elderly individuals at risk of vascular disease (PROSPER): a randomised controlled trial. Lancet. 2002;360(9346):1623-30. doi:10.1016/S0140-6736(02)11600-X

Calcium Phosphate As A Key Material For Socially Responsible Tissue Engineering, Vuk Uskoković, Victoria M. Wu

Pharmacy Faculty Articles and Research

Socially responsible technologies are designed while taking into consideration the socioeconomic, geopolitical and environmental limitations of regions in which they will be implemented. In the medical context, this involves making therapeutic platforms more accessible and affordable to patients in poor regions of the world wherein a given disease is endemic. This often necessitates going against the reigning trend of making therapeutic nanoparticles ever more structurally complex and expensive. However, studies aimed at simplifying materials and formulations while maintaining the functionality and therapeutic response of their more complex counterparts seldom provoke a significant interest in the scientific community. In this review …

Health Care Transition Program For Adolescents With Spina Bifida, Teresa M. Scavone

Doctor of Nursing Practice Final Manuscripts

The purpose of this evidence-based project was to evaluate the feasibility of implementing an NP facilitated formal transition program for adolescents with Spina Bifida. There is an increased awareness of the need for health care transition for youth with special health care needs (YSHCN) due to the 2009-2010 Maternal Child Health Branch National Survey findings that only 40% of YSHCN receive adequate support for transition that meets the core outcome measures. Recent studies have investigated transition in youth with chronic disease specific conditions such as diabetes, cystic fibrosis, and congenital heart defects, and provide valuable insight into possible strategies for …

Examining Maternal Obesity Effects On Oogenesis, Follicular Development, And Embryonic Myogenesis, Chris Lindeman, Jennifer Wood

UCARE: Research Products

The CDC estimates that more than one-third of U.S. adults (approximately 78.6 million) are obese. Despite national efforts to combat this with diet and exercise, the number of obese adults and children continues to climb. It is critical to emphasize that obesity can lead to lifelong, chronic complications and health risks including hypertension, heart disease, and diabetes.

Diet and obesity also have important impacts on the reproductive health of female including the ability to become pregnant (fertility) and risk for complications during pregnancy. Furthermore, for women who do become pregnant, obesity can affect the development of the embryo and fetus, …

Injury Risk Assessment Of The Femur In Children With Osteogenesis Imperfecta, Jessica Marie Fritz

Dissertations (1934 -)

Osteogenesis imperfecta (OI) is a genetic disorder characterized by increased bone fragility and decreased bone mass, which leads to high rates of bone fracture. OI has a prevalence of 1/5,000 to 1/10,000 in the United States. About 90% of persons with OI have a genetic mutation in the coding for collagen type I, which is the major protein of connective tissues, including bone. While its prevalence classifies it as a rare disease, it is the most common disorder of bone etiology. Until recently, little was known about the mechanics and materials of OI bone or their impact on fracture risk. …

Global Engagement: Problem Solving And Information Exchange, Vinaya Manchaiah, Brenda Louw

ETSU Faculty Works

This interactive session provides opportunities (1) to share ideas for infusing global perspectives and goals into CAPCSD projects, conferences, and the work of committees and task forces; (2) to discuss ways to collaborate in an ongoing global engagement projects and help include content for 2017 conference; and (3) to create how-to guides for ethical and culturally attuned translational research, and clinical education, and service learning.

Huntington's Disease--A Review, Christen Dunn

The Kabod

Huntington’s disease is degenerative and effects both cognitive and motor functioning, beginning in the 20s and continuing a decline for about two decades until death. In this disease, the huntingtin gene on chromosome four codes for an abnormally elongated repeating CAG polypeptide sequence. This mutation causes an atrophy in the brain that translates into decreasing control of movements and other aspects of cognition. To date, there is no cure for Huntington’s disease, but there are treatments for many symptoms that accompany the disease. Even still, there are promising new methods that may be more beneficial to patients in the future.

An Ultrasonographic Analysis Of The Structures Of The Subacromial Space, As They Relate To The Postures Of Upper String Musicians, Elliot V. Smithson

Theses, Dissertations and Capstones

Background: The leading source of general population shoulder pain is subacromial impingement syndrome (SAIS) which can contribute to rotator cuff disease (RCD). 1 It has been reported that up to 12% of musicians end their musical career due to musculoskeletal injury.2 SAIS is a common source of shoulder pain in the bowing arm of upper string musicians.3 However, the mechanisms leading to shoulder pain in upper string musicians are not well known.

Purpose: The purpose of this study was to characterize aspects of the subacromial space anatomy while in standard playing positions of upper string musicians, specifically measurements …

Discovery Of Metabolic Biomarkers For Duchenne Muscular Dystrophy Within A Natural History Study., Simina M. Boca, Maki Nishida, Michael Harris, Shruti Rao, Amrita Cheema, Kirandeep Gill, Haeri Seol, Lauren P. Morgenroth, Erik Henricson, Craig M. Mcdonald, Jean K. Mah, Paula R. Clemens, Eric P. Hoffman, Yetrib Hathout, Subha Madhavan

Pediatrics Faculty Publications

Serum metabolite profiling in Duchenne muscular dystrophy (DMD) may enable discovery of valuable molecular markers for disease progression and treatment response. Serum samples from 51 DMD patients from a natural history study and 22 age-matched healthy volunteers were profiled using liquid chromatography coupled to mass spectrometry (LC-MS) for discovery of novel circulating serum metabolites associated with DMD. Fourteen metabolites were found significantly altered (1% false discovery rate) in their levels between DMD patients and healthy controls while adjusting for age and study site and allowing for an interaction between disease status and age. Increased metabolites included arginine, creatine and unknown …

Crispr/Cas9 As A Therapeutic Approach To Duchenne Muscular Dystrophy, Abraham Daniel Levitman

The Science Journal of the Lander College of Arts and Sciences

Transhumanism, designer babies, gene therapy, and super-soldiers are founded upon the same concept—genetic engineering. Clustered Regularly-Interspersed Short Palindromic Repeats (CRISPR) is a natural bacterial immune response method that takes advantage of gene manipulation to prevent an infection from mobile genetic elements. Since Mojica et al. (2005) first suggested the relationship between the CRISPR/Cas system and prokaryotic immunity, significant advancements have been made in understanding the mechanism and subsequent applications of CRISPR. CRISPR, has three main subtypes based on unique proteins and interference pathways and serves as an accurate and effective method for gene editing. Its mechanism consists of spacer acquisition, …

The Effect Of Varying Bisphosphonate Treatment On Changes In Bone Microdamage In Osteoporotic Women, Stefanie L. Pagano

Theses and Dissertations--Biomedical Engineering

Bisphosphonates (BPs) are used for the treatment of osteoporosis. This study evaluated changes in bone microdamage with BP treatment duration. Fifty-one iliac crest biopsies were obtained from Caucasian women, ages 41 to 87 years, who were previously diagnosed and treated for osteoporosis with oral BPs for 1-16 years duration. Patients diagnosed with any disease, drug, or substance abuse that may affect bone metabolism were excluded.

Bone samples were sectioned, stained, and histologically examined using light and fluorescence microscopy. Bone area, number and length of microcracks were quantified. Following adjustment for age, BMD, BV/TV, trabecular thickness, and turnover, regression analysis revealed …

Intra-Articular Interleukin-1 Receptor Antagonist (Il1-Ra) Microspheres For Posttraumatic Osteoarthritis: In Vitro Biological Activity And In Vivo Disease Modifying Effect, Khaled A. Elsaid, Anand Ubhe, Ziyad Shaman, Gerard D'Souza

Pharmacy Faculty Articles and Research

Background: Interleukin-1 receptor antagonist (IL-1 ra) can be disease-modifying in posttraumatic osteoarthritis (PTOA). One limitation is its short joint residence time. We hypothesized that IL-1 ra encapsulation in poly (lactide-co-glycolide) (PLGA) microspheres reduces IL-1 ra systemic absorption and provides an enhanced anti-PTOA effect.

Methods: IL-1 ra release kinetics and biological activity: IL-1 ra encapsulation into PLGA microsphere was performed using double emulsion solvent extraction. Lyophilized PLGA IL-1 ra microspheres were resuspended in PBS and supernatant IL-1 ra concentrations were assayed. The biological activity of IL-1 ra from PLGA IL-1 ra microspheres was performed using IL-1 induced lymphocyte proliferation …

A Mechanistic Study Of An Ipsc Model For Leigh’S Disease Caused By Mtdna Mutataion (8993 T>G), John P. Galdun

Theses and Dissertations

Mitochondrial diseases encompass a broad range of devastating disorders that typically affect tissues with high-energy requirements. These disorders have been difficult to diagnose and research because of the complexity of mitochondrial genetics, and the large variability seen among patient populations. We have devised and carried out a mechanistic study to generate a cell based model for Leigh’s disease caused by mitochondrial DNA mutation 8993 T>G. Leigh’s disease is a multi-organ system disorder that depends heavily on the mutation burden seen within various tissues. Using new reprogramming and sequencing technologies, we were able to show that Leigh’s disease patient fibroblasts …

Whole Body Cryotherapy Vs. Cold Water Immersion, Brett M. Johnson

Physician Assistant Scholarly Project Posters

In this country a significant percentage of the population present to clinics with generalized musculoskeletal disorders related to pain. More than one-quarter of Americans (26%) age 20 years and over, or an estimated 76.5 million Americans report a problem with general musculoskeletal disorders related to pain that persisted for more than 24 hours in duration. The treatment for various musculoskeletal disorders related to pain are anti-inflammatory agents or opioid analgesics. Another form of anti-inflammatory /analgesia for such ailments is cold therapy.

The purpose of this literature review is to compare Whole Body Cryotherapy (WBCt) to Cold Water Immersion (CWI) in …

Is Acupuncture, Including Electroacupuncture, Effective In Treating Pain In Plantar Fasciitis?, Alicia Campiglia

PCOM Physician Assistant Studies Student Scholarship

OBJECTIVE: The objective of this selective EBM review is to determine whether the use of acupuncture, including electroacupuncture, is effective in treating pain in patients with plantar fasciitis.

STUDY DESIGN: Review of 3 RCTs published between 2011-current, all in the English language.

DATA SOURCES: Three RCTs analyzed the effectiveness of acupuncture therapy compared to a control group using alternate analgesic therapies. All studies were found using EBSCOhost and PubMed and were selected based on relevance to the proposed clinical question.

OUTCOMES MEASURED: Each of the 3 articles analyzed the effectiveness of treating pain with acupuncture treatment in patients diagnosed with …

Is Vitamin D Supplementation Effective At Reducing Idiopathic Musculoskeletal (Mss) Pain?, Darra O. Markland

PCOM Physician Assistant Studies Student Scholarship

Objective: The objective of this selective EBM review is to determine “Is Vitamin D supplementation effective at reducing idiopathic musculoskeletal (MSS) pain?”

Study Design: Review of primary studies published between the years 2012-2014.

Data Sources: One double blind randomized controlled trial (RCT), one semi-crossover RCT, and one before and after observational study. These were found using Cochrane Review and PubMed databases.

Outcomes Measured: Clinical outcomes were measured in these studies utilizing the Visual Analogue Scale for Pain, the 5-point Likert Pain Scale, the Standard Nordic Questionnaires and numerical grading of pain level, and number of pain sites before and after …

Do Epidural Injections With Local Anesthetic With Steroids Have Superiority Over Injections With Local Anesthetic Alone When Treating Chronic Back Pain Due To An Intervertebral Disc Herniation In Men And Women Over 18 Years Old?, Julia S. Ross

PCOM Physician Assistant Studies Student Scholarship

OBJECTIVE: The objective of this selective EBM review is to determine whether or not, “Do epidural injections with local anesthetic with steroids have superiority over injections with local anesthetic alone when treating chronic back pain due to an intervertebral disc herniation in men and women over 18 years old?”

STUDY DESIGN: Review of three, double blind, randomized controlled trials (RCTs) published between 2011-2014, all in English language. The articles compared epidural injections containing local anesthetic with steroids to epidural injections containing local anesthetics alone.

DATA SOURCES: Three Randomized controlled trials found using PubMed. All articles were published in peer-reviewed journals …

Is Laser Therapy An Effective Alternative Treatment For Women With Fibromyalgia?, Michelle B. Astrove

PCOM Physician Assistant Studies Student Scholarship

OBJECTIVE: The objective of this selective EBM review is to determine whether or not, “Is the use of laser therapy an effective alternative treatment for women with fibromyalgia?”

STUDY DESIGN: Review of three English language primary studies, published between 2002 and 2013.

DATA SOURCES: Three randomized controlled trials (RCTs) were found using Cochrane Systematic Reviews. These studies analyzed the effectiveness of laser therapy in women with fibromyalgia.

OUTCOMES MEASURED: Main outcomes measured were improvement in pain, number of tender points, muscular spasm, skinfold tenderness, sleep disturbance, fatigue and morning stiffness measured by an ordinal likert scale, Pain and FM impact …

Is Viscosupplementation Effective In Reducing Osteoarthritis Knee Pain?, Amalia Antonoplos

PCOM Physician Assistant Studies Student Scholarship

OBJECTIVE: The objective of this selective EBM review is to determine whether or not viscosupplementation is effective in reducing osteoarthritis knee pain

STUDY DESIGN: Review of three randomized, double blind, placebo control trials between 2009- 2010

DATA SOURCES: Three randomized, double blind, placebo control trials were found via PubMed and NCBI

OUTCOMES MEASURED: Each randomized control trial measured knee pain and/or patient satisfaction following their intervention (placebo or hyaluronic acid) in patients with knee osteoarthritis, which was measured via WOMAC pain scale and patient global assessment forms.

RESULTS: (P<0.05) for change in pain at 14-26 weeks after injection (NNT=6- 8 for Chevalier et al and 4 for Kul-Panza & Berker). Patient satisfaction was higher in the experimental groups as compared to the control with conclusions of NNT between 11 and 20 for Chevalier et al and Kul-Panza & Berker respectively. Chavelier et al found adverse events such as arthralgias and joint effusion in <10% of their study population (NNH=39). No dichotomous data was presented in Diacoglu et al; however an ANOVA was deemed statistically significant (p<0.01).

CONCLUSION: Review of these articles concludes that the use of hyaluronic …

Relief Of Cervicogenic Headaches After Single-Level And Multilevel Anterior Cervical Diskectomy: A 5-Year Post Hoc Analysis, Jonathan J. Liu, Gilbert Cadena, Ripul R. Panchal, Rudolph J. Schrot, Kee D. Kim

Faculty Publications & Research of the TUC College of Osteopathic Medicine

Study Design Prospective study.

Objective Because single-level disk arthroplasty or arthrodesis in the lower subaxial spine improves headaches after surgery, we studied whether this effect may be better appreciated after two-level arthroplasty.

Methods We performed an independent post hoc analysis of two concurrent prospective randomized investigational device exemption trials for cervical spondylosis, one for single-level treatment and the other for two adjacent-level treatments.

Results For the one-level study, baseline mean headache scores significantly improved at 60 months for both the cervical disk arthroplasty (CDA) and anterior cervical diskectomy and fusion (ACDF) groups (p < 0.0001). However, mean improvement in headache scores was not statistically different between the investigational and control groups from 6 months through 60 months. For the two-level study, baseline mean headache scores significantly improved at 60 months for both the CDA and ACDF groups (p < 0.0001). The CDA group demonstrated greater improvement from baseline at all points; this difference was statistically significant at 6, 12, 24, 36, and 48 months but not at 18 and 60 months.

Conclusion Both CDA and ACDF at either …