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Full-Text Articles in Musculoskeletal Diseases

An Investigation Of The Knowledge And Perceptions Of Arthritis Amongst The Student Population In Ireland., Laura Dunleavy, Máire Mccallion Sep 2021

An Investigation Of The Knowledge And Perceptions Of Arthritis Amongst The Student Population In Ireland., Laura Dunleavy, Máire Mccallion

SURE Journal: Science Undergraduate Research Experience Journal

Background: Arthritis is a term used to categorise many diseases that primarily affect joints. It is a highly prevalent disease worldwide with approximately 915,000 individuals living with it in Ireland. Support is vital and it is important that individuals in college have a good understanding of disabilities. Previous studies found that there is a lack of knowledge and awareness about rheumatic diseases amongst the general public, however, no studies focused on the student population.

Aim: To investigate students’ knowledge and perception of arthritis and to determine whether education and more awareness about arthritis is needed amongst students.

Methods: This was …


Sarcopenia Screening By Registered Dietitian Nutritionists (Rdns) In The United States (U.S.), Madison Marcom May 2021

Sarcopenia Screening By Registered Dietitian Nutritionists (Rdns) In The United States (U.S.), Madison Marcom

Electronic Theses and Dissertations

Sarcopenia is a disease of muscle wasting primarily seen in older adults. Although this term was first coined over three decades ago, there is a lack of consensus on a definition, screening criteria, and treatment protocol for sarcopenia. The primary purpose of this study is to determine whether registered dietitian nutritionists (RDNs) in the United States (U.S.) screen for sarcopenia. Study participants were recruited through a randomized email list and included RDNs throughout the U.S. Respondents completed a survey questioning knowledge of sarcopenia, screening tools and company protocols in place, and the need and desire for sarcopenia education. Data revealed …


Trunk Kinematics Using Musculoskeletal Modeling During Range Of Motion Tasks, Maryam Moeini, Ruth M. Higgins, Hunter Bennett, Stacie Ringleb Apr 2021

Trunk Kinematics Using Musculoskeletal Modeling During Range Of Motion Tasks, Maryam Moeini, Ruth M. Higgins, Hunter Bennett, Stacie Ringleb

College of Health Sciences Posters

A spine model can be used to predict post-spinal fusion motion needed to perform physical activities in individuals with scoliosis. Full body lumbar spine (FBLS) model (Raabi et al., 2016) allows for modeling lumbar spine and pelvis movement and was validated for jogging. However, like other existing adult spine models, FBLS model does not allow for a motion providing thoracic and spine. Purpose: To adapt the FBLS model for simulating thoracic, lumbar and pelvis motion during trunk rotation in all 3 planes of motion. Methods: Since T12-L1 in FBLS model is designed as a dependent joint (axial rotation analogous to …


Développement D’Un Outil Personnalisé D’Aide À La Décision En Vue De Minimiser Les Risques En Manutention Impliquant Des Postures Symétriques Et Asymétriques, Aboulfazl Shirazi-Adl, Navid Arjmand, André Plamondon Feb 2021

Développement D’Un Outil Personnalisé D’Aide À La Décision En Vue De Minimiser Les Risques En Manutention Impliquant Des Postures Symétriques Et Asymétriques, Aboulfazl Shirazi-Adl, Navid Arjmand, André Plamondon

Rapports de recherche scientifique

Les charges excessives imposées sur la colonne vertébrale lombaire constituent un facteur de risques important pour les maux de dos. La modélisation biomécanique de la colonne vertébrale est la seule approche non invasive permettant d’estimer ces charges, mais la complexité de ces modèles limite leur utilisation par des ergonomes. Pour aider ces derniers à identifier des situations à risque de blessures au dos afin de limiter le chargement aux structures lombaires, il existe des outils d’aide à la décision comme l’équation de levage du NIOSH (Revised NIOSH Lifting Equation, Waters et al., 1993) ainsi que les tables …


Structural Remodeling Of The Lumbar Multifidus, Thoracolumbar Fascia And Lateral Abdominal Wall Perimuscular Connective Tissues: A Search For Its Potential Determinants, Christian Larivière, Sharon M. Henry, Richard Preuss Jan 2021

Structural Remodeling Of The Lumbar Multifidus, Thoracolumbar Fascia And Lateral Abdominal Wall Perimuscular Connective Tissues: A Search For Its Potential Determinants, Christian Larivière, Sharon M. Henry, Richard Preuss

Études primaires

Recently remodeling of lumbar soft tissues has received increased research attention. However, the major determinants that influence remodeling need to be elucidated in order to understand the impact of different rehabilitation modalities on tissue remodeling. The main aim of this study was to explore the between-subject variance of different measures of lumbar soft tissues quantified with rehabilitative ultrasound imaging (RUSI). RUSI measures (n = 8) were collected from 30 subjects without and 34 patients with LBP: (1) lumbar multifidus (LM) echogenicity (fatty infiltration/fibrosis) at three vertebral levels (L3/L4, L4/L5 and L5/S1) (n = 3); (2) posterior layer thickness …


The Effect Of Extensible And Non-Extensible Lumbosacral Orthoses On Anticipatory Postural Adjustments In Participants With Low Back Pain And Healthy Controls, Christian Larivière, Richard Preuss Jan 2021

The Effect Of Extensible And Non-Extensible Lumbosacral Orthoses On Anticipatory Postural Adjustments In Participants With Low Back Pain And Healthy Controls, Christian Larivière, Richard Preuss

Études primaires

Background

Wearing a lumbosacral orthosis (LSO) is known to influence spine mechanics, but less is known about how LSOs affect motor control. Whether the use of a LSO can negatively affect motor control of the lumbar spine is still under debate.

Objective

The current study examined the immediate effects of two flexible LSOs (extensible and non-extensible) on the anticipatory postural adjustments that prepare the spine for a predictable perturbation.

Design

A comparative study using a repeated measures design in a laboratory setting.

Methods

Healthy controls (n = 20) and participants with low back pain (n = 40) performed a rapid …


Regulation Of Osseous Healing By Macrophage-Derived Wnt Ligands, Jefferson Overlin Abaricia Jan 2021

Regulation Of Osseous Healing By Macrophage-Derived Wnt Ligands, Jefferson Overlin Abaricia

Theses and Dissertations

Osseous healing is regulated by various classes of cells and signaling mechanisms. Of these, Wnt signaling has long been known to be critically important in directing the differentiation of mesenchymal stem cells (MSCs) into osteoblasts during bone healing. However, the source of these Wnt ligands is not known. Recently, a body of literature has arisen finding both beneficial and detrimental effects of macrophage-derived Wnt ligands on the regeneration of other tissues (liver, kidney, heart, and intestine), often by regulating inflammatory activation and stem cell behavior. As macrophages have been well-characterized as orchestrators of healing, their use of Wnt signaling to …


The Physiological Interaction Of Sleep Deprivation And Zoledronate On Distal Femur Trabecular Thickness Of Ovariectomized Rats, Erin Nolte, Frank Frisch, Oliver Lopez Dec 2020

The Physiological Interaction Of Sleep Deprivation And Zoledronate On Distal Femur Trabecular Thickness Of Ovariectomized Rats, Erin Nolte, Frank Frisch, Oliver Lopez

Health Sciences and Kinesiology Faculty Articles

Osteoporosis, a disease resulting in an increased risk of fracture due to compromised bone, affects 1 in 3 postmenopausal women. Discontinuities in the microarchitecture of bone, such as trabeculae, are seen in postmenopausal osteoporosis. This study aimed to evaluate how sleep deprivation affects the distal femur trabecular thickness of estrogen-deficient rats treated with Zoledronate. 29 ovariectomized Wistar female rats were separated into 4 groups. The control group (C) was housed in standard housing with a 12-hour light/dark cycle and was given an intravenous injection of 0.45 mL of 0.9% saline. The Zoledronate group (Z) were also housed in standard conditions …


A Functional Three-Dimensional Microphysiological Model Of Myeloma Bone Disease, Richard Visconti Dec 2020

A Functional Three-Dimensional Microphysiological Model Of Myeloma Bone Disease, Richard Visconti

Seton Hall University Dissertations and Theses (ETDs)

Multiple myeloma (MM) is a hematologic cancer caused by a mature B cell neoplasm, or plasmacytoma, that infiltrates the skeleton at several sites. The disease is characterized by uninhibited transformed plasma cell proliferation that disrupts skeletal homeostasis leading to decreased bone modeling and increased bone resorption. Osteolytic lesions (OL) or voids left in the bone, remain long after the treatment of the cancer and indicate disease progression to myeloma bone disease (MBD). Current combinatorial MM therapies inhibit malignant plasma cell proliferation, slow the progression towards MBD, and increase the mean five-year survival rate, but do little to improve osteoblastic function …


The Effect Of Staphylococcus Aureus Exposure On White-Tailed Deer Trabecular Bone Stiffness And Yield, Emily Brooke Long May 2020

The Effect Of Staphylococcus Aureus Exposure On White-Tailed Deer Trabecular Bone Stiffness And Yield, Emily Brooke Long

Graduate Theses

Osteomyelitis is an infection of the bone or bone marrow caused by the infiltration of bacteria, resulting in destructive inflammation, bone necrosis and abnormal bone remolding. With a growing number of osteomyelitis diagnoses, many of which are linked to Staphylococcus aureus (S. aureus), it is imperative to understand the pathology of S. aureus in relation to bone to provide better diagnostics and patient care. While the cellular mechanisms of S. aureus and osteomyelitis have been studied, little information exists on the biomechanical effects of such infections. We postulated that exposure to S. aureus for 72 hours would significantly decrease both …


Cd44 Receptor Mediates Urate Crystal Phagocytosis By Macrophages And Regulates Inflammation In A Murine Peritoneal Model Of Acute Gout, Emira Bousoik, Marwa Qadri, Khaled A. Elsaid Apr 2020

Cd44 Receptor Mediates Urate Crystal Phagocytosis By Macrophages And Regulates Inflammation In A Murine Peritoneal Model Of Acute Gout, Emira Bousoik, Marwa Qadri, Khaled A. Elsaid

Pharmacy Faculty Articles and Research

Gout is a chronic arthritis caused by the deposition of poorly soluble monosodium urate monohydrate (MSU) crystals in peripheral joints. Resident macrophages initiate inflammation in response to MSU mediated by NF-κB nuclear translocation and NLRP3 inflammasome activation. We investigated the role of CD44, a transmembrane receptor, in mediating MSU phagocytosis by macrophages. We used an antibody that sheds the extracellular domain (ECD) of CD44 to study the role of the receptor and its associated protein phosphatase 2A (PP2A) in macrophage activation. We also studied the significance of CD44 in mediating MSU inflammation in-vivo. Cd44−/− BMDMs showed reduced MSU …


Effet De L’Expertise Et Du Sexe Sur Les Contraintes À L’Épaule En Manutention, Etienne Goubault, Romain Martinez, Najoua Assila, Jennifer Dowling-Medley, Élodie Monga-Dubreuil, Sophie-Anne Scherrer, André Plamondon, Mickaël Begon Jan 2020

Effet De L’Expertise Et Du Sexe Sur Les Contraintes À L’Épaule En Manutention, Etienne Goubault, Romain Martinez, Najoua Assila, Jennifer Dowling-Medley, Élodie Monga-Dubreuil, Sophie-Anne Scherrer, André Plamondon, Mickaël Begon

Rapports de recherche scientifique

L’atteinte de troubles musculosquelettiques (TMS) parmi les travailleurs et travailleuses au Québec était récemment estimée à 732 000 cas (Stock et al., 2014). Ces TMS sont associés aux activités professionnelles impliquant des efforts physiques prolongés, intenses et/ou répétitifs, telles que des tâches d’assemblage, de manutention, d’aide à la personne ou encore de maintien de posture prolongée sur un poste de travail. Les membres supérieurs, qui représentaient 30,1 % des cas de TMS déclarés et acceptés au Québec de 1998 à 2007 (Michel et al., 2010), sont les plus touchés après le dos. Plus particulièrement, l’épaule figure comme l’articulation …


Donor Age Effects On The Proliferative And Chondrogenic/Osteogenic Differentiation Performance Of Equine Bone Marrow- And Adipose Tissue Derived Mesenchymal Stem Cells In Culture, Jasmin Bagge Jan 2020

Donor Age Effects On The Proliferative And Chondrogenic/Osteogenic Differentiation Performance Of Equine Bone Marrow- And Adipose Tissue Derived Mesenchymal Stem Cells In Culture, Jasmin Bagge

Theses and Dissertations--Veterinary Science

Orthopedic injuries are a major cause of lameness and morbidity in horses. Bone marrow (BM)- and adipose tissue (AT) derived mesenchymal stem cells (MSCs) have shown potential to facilitate the repair of orthopedic injuries and are being used increasingly in veterinary clinics. Presently, the use of MSCs as a therapy for equine patients is most commonly applied as autologous transplants, using BM- and AT-MSCs harvested from the patient shortly after the time of injury. Cell-based therapies are therefore delayed to enable primary cell numbers to be expanded in culture. Of concern, however, are human and rodent studies that have shown …


Comparative Chondrogenesis Of Interzone And Anlagen Cells In Equine Skeletal Development, Chanhee Mok Jan 2020

Comparative Chondrogenesis Of Interzone And Anlagen Cells In Equine Skeletal Development, Chanhee Mok

Theses and Dissertations--Veterinary Science

At the presumptive sites of future synovial joints during mammalian skeletogenesis, articular cartilage develops from interzone located between the cartilaginous anlagen of bones. Thus, two types of cartilaginous tissues differentiate in close proximity. While anlagen cartilage is transient, progressing through endochondral ossification to form bones, articular cartilage is stable and functions throughout life to facilitate both low friction movement and load distribution. Despite important life-long functional properties, articular cartilage has a very limited intrinsic ability to repair structural defects. On the other hand, structural lesions in bones generally heal well by forming a cartilaginous callus and recapitulating endochondral ossification to …


Structural Remodelling Of The Lumbar Multifidus, Thoracolumbar Fascia And Lateral Abdominal Wall Perimuscular Connective Tissues: A Cross-Sectional And Comparative Ultrasound Study, Christian Larivière, Richard Preuss, Dany H. Gagnon, Hakim Mecheri, Sharon M. Henry Jan 2020

Structural Remodelling Of The Lumbar Multifidus, Thoracolumbar Fascia And Lateral Abdominal Wall Perimuscular Connective Tissues: A Cross-Sectional And Comparative Ultrasound Study, Christian Larivière, Richard Preuss, Dany H. Gagnon, Hakim Mecheri, Sharon M. Henry

Études primaires

Introduction

With low back pain (LBP), remodelling of the lumbar soft tissues involves both trunk muscles and neighbouring passive connective tissues. The aim of the present study was to compare three quantitative measures of these tissues, using ultrasound imaging (USI), among healthy controls and individuals with LBP.

Methods

USI measures from 30 healthy subjects and 34 patients with non-acute LBP were compared between groups and sexes. The measures employed were (1) lumbar multifidus echogenicity (fatty/fibrosis infiltration) at three vertebral levels; (2) posterior layer thickness of the thoracolumbar fascia, and (3) thickness of the perimuscular tissues surrounding the external oblique, internal …


Development Of A Sonically Powered Biodegradable Nanogenerator For Bone Regeneration, Avi Patel May 2019

Development Of A Sonically Powered Biodegradable Nanogenerator For Bone Regeneration, Avi Patel

Honors Scholar Theses

Background: Reconstruction of bone fractures and defects remains a big challenge in orthopedic surgery. While regenerative engineering has advanced the field greatly using a combination of biomaterial scaffolds and stem cells, one matter of difficulty is inducing osteogenesis in these cells. Recent works have shown electricity’s ability to promote osteogenesis in stem cell lines when seeded in bone scaffolds; however, typical electrical stimulators are either (a) externally housed and require overcomplex percutaneous wires be connected to the implanted scaffold or (b) implanted non-degradable devices which contain toxic batteries and require invasive removal surgeries.

Objective: Here, we establish a biodegradable, piezoelectric …


Melatonin-Micronutrients Osteopenia Treatment Study (Mots): A Translational Study Assessing The Effects Of Melatonin, Strontium Citrate, Vitamin D3 And Vitamin K2 On Bone Density, Bone Turnover Markers And Health-Related Quality Of Life In Postmenopausal Osteopenic Women Following A One-Year Double-Blind Randomized Placebo-Controlled Trial And On Osteoblast-Osteoclast Co-Cultures, Sifat Maria May 2018

Melatonin-Micronutrients Osteopenia Treatment Study (Mots): A Translational Study Assessing The Effects Of Melatonin, Strontium Citrate, Vitamin D3 And Vitamin K2 On Bone Density, Bone Turnover Markers And Health-Related Quality Of Life In Postmenopausal Osteopenic Women Following A One-Year Double-Blind Randomized Placebo-Controlled Trial And On Osteoblast-Osteoclast Co-Cultures, Sifat Maria

Electronic Theses and Dissertations

Objective: The purpose of this study was to assess if a novel combination of melatonin and three other natural bone-aiding micronutrients: strontium citrate, vitamins D3 and K2 (MSDK) could improve bone health by modulating the activity of osteoblasts and osteoclasts in favor of balanced bone remodeling and by improving the overall health-related quality of life in postmenopausal osteopenic women.

Methods: The Melatonin-micronutrients Osteopenia Treatment Study (MOTS) is a translational research study that used both clinical and in vitro approaches to assess the efficacy of MSDK on bone health in women and to identify potential mechanisms for its effects. …


Elucidation Of The Functions Of Neuropilin 2 In Osteoclasts In Promoting Prostate Cancer Bone Metastasis., Navatha S. Polavaram May 2018

Elucidation Of The Functions Of Neuropilin 2 In Osteoclasts In Promoting Prostate Cancer Bone Metastasis., Navatha S. Polavaram

Theses & Dissertations

Bone metastasis is one of the major clinical concerns that causes skeletal related malignancies and increased mortality. Bone is one of the preferred sites for metastatic prostate cancer. The metastatic prostate cancer cells interact with bone cells (osteoblasts and osteoclasts) resulting in an imbalance in the bone homeostasis leading to increased activation of osteoblasts over osteoclasts. Our preliminary data indicated a non-tyrosine kinase receptor Neuropilin 2 (NRP2) is expressed in osteoclasts induced by metastatic prostate cancer cells and acts as a negative regulator of osteoclast differentiation and function. We hypothesize that prostate cancer -induced NRP2 expression in osteoclasts is necessary …


Muscle Synergy During A Single Leg Standing Test In Ambulatory Children With Cerebral Palsy, Brennan L. Smith Jan 2018

Muscle Synergy During A Single Leg Standing Test In Ambulatory Children With Cerebral Palsy, Brennan L. Smith

Theses and Dissertations--Kinesiology and Health Promotion

INTRODUCTION: Cerebral Palsy (CP) is a sensorimotor disorder characterized by dysfunctional motor coordination, balance problems, and loss of selective motor control. Motor coordination exhibited as co-contraction, has been subjectively quantified using gait analysis, but recent studies have begun to objectively analyze the amount of co-contraction by collecting electromyography (EMG) data. Center of pressure excursion (COPE) measurements collected during a single leg standing test (SLST) have shown to be more valid measurements of balance in populations with motor disabilities than a SLST alone. A recent study has correlated increased COPE velocity with a lower fall risk as determined by reported fall …


Myoblasts And Macrophages Are Required For Therapeutic Morpholino Antisense Oligonucleotide Delivery To Dystrophic Muscle., James S Novak, Marshall W Hogarth, Jessica F Boehler, Marie Nearing, Maria C Vila, Raul Heredia, Alyson A Fiorillo, Aiping Zhang, Yetrib Hathout, Eric P Hoffman, Jyoti K Jaiswal, Kanneboyina Nagaraju, Sebahattin Cirak, Terence A Partridge Oct 2017

Myoblasts And Macrophages Are Required For Therapeutic Morpholino Antisense Oligonucleotide Delivery To Dystrophic Muscle., James S Novak, Marshall W Hogarth, Jessica F Boehler, Marie Nearing, Maria C Vila, Raul Heredia, Alyson A Fiorillo, Aiping Zhang, Yetrib Hathout, Eric P Hoffman, Jyoti K Jaiswal, Kanneboyina Nagaraju, Sebahattin Cirak, Terence A Partridge

Pediatrics Faculty Publications

Exon skipping is a promising therapeutic strategy for Duchenne muscular dystrophy (DMD), employing morpholino antisense oligonucleotides (PMO-AO) to exclude disruptive exons from the mutant DMD transcript and elicit production of truncated dystrophin protein. Clinical trials for PMO show variable and sporadic dystrophin rescue. Here, we show that robust PMO uptake and efficient production of dystrophin following PMO administration coincide with areas of myofiber regeneration and inflammation. PMO localization is sustained in inflammatory foci where it enters macrophages, actively differentiating myoblasts and newly forming myotubes. We conclude that efficient PMO delivery into muscle requires two concomitant events: first, accumulation and retention …


Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer Jul 2017

Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer

DePaul Discoveries

Reduction of stressors and anxiety levels in adolescents with chronic illnesses is a critical concept in pediatric health care in America today. The many stressors associated with chronic illness include displaying physical and mental differences, social stigma, financial difficulty, and family stress. These stressors may affect the adolescent’s ability to learn and cope in everyday life. The current research was a critical review of the literature examining studies done with adolescents coping with chronic diseases and illnesses. The aim was to analyze the most efficacious non-pharmacological methods for reducing stressors in adolescents with chronic illness. A critical review of the …


Obesity And Obesity Shape Markedly Influence Spine Biomechanics: A Subject-Specific Risk Assessment Model, Farshid Ghezelbash, Aboulfazl Shirazi-Adl, André Plamondon, Navid Arjmand, Mohammad Parnianpour Jan 2017

Obesity And Obesity Shape Markedly Influence Spine Biomechanics: A Subject-Specific Risk Assessment Model, Farshid Ghezelbash, Aboulfazl Shirazi-Adl, André Plamondon, Navid Arjmand, Mohammad Parnianpour

Études primaires

Underlying mechanisms of obesity-related back pain remain unexplored. Thus, we aim to determine the effect of obesity and its shapes on the spinal loads and the associated risks of injury. Obesity shapes were initially constructed by principal component analysis based on datasets on 5852 obese individuals. Spinal loads, cycles to vertebral failure and trunk stability margin were estimated in a subject-specific trunk model taking account of personalized musculature, passive ligamentous spine, obesity shapes, segmental weights, spine kinematics and bone mineral density. Three obesity shapes (mean and extreme abdominal circumferences) at three body weights (BWs) of 86, 98 and 109 kg …


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 Aug 2016

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 …


Examining Maternal Obesity Effects On Oogenesis, Follicular Development, And Embryonic Myogenesis, Chris Lindeman, Jennifer Wood Apr 2016

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, …


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 Jan 2016

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 …


A Mechanistic Study Of An Ipsc Model For Leigh’S Disease Caused By Mtdna Mutataion (8993 T>G), John P. Galdun Jan 2016

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 …


Sma-Causing Missense Mutations In Survival Motor Neuron (Smn) Display A Wide Range Of Phenotypes When Modeled In Drosophila, Kavita Praveen, Ying Wen, Kelsey M. Gray, John J. Noto, Akash R. Patlolla, Gregory D. Van Duyne, A. Gregory Matera Aug 2014

Sma-Causing Missense Mutations In Survival Motor Neuron (Smn) Display A Wide Range Of Phenotypes When Modeled In Drosophila, Kavita Praveen, Ying Wen, Kelsey M. Gray, John J. Noto, Akash R. Patlolla, Gregory D. Van Duyne, A. Gregory Matera

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Mutations in the human survival motor neuron 1 (SMN) gene are the primary cause of spinal muscular atrophy (SMA), a devastating neuromuscular disorder. SMN protein has a well-characterized role in the biogenesis of small nuclear ribonucleoproteins (snRNPs), core components of the spliceosome. Additional tissue-specific and global functions have been ascribed to SMN; however, their relevance to SMA pathology is poorly understood and controversial. Using Drosophila as a model system, we created an allelic series of twelve Smn missense mutations, originally identified in human SMA patients. We show that animals expressing these SMA-causing mutations display a broad range of …


Quantitative Ultrasound: Measurement Considerations For The Assessment Of Muscular Dystrophy And Sarcopenia, Michael O. Harris-Love, Reza Monfaredi, Catheeja Ismail, Marc R. Blackman, Kevin Cleary Jul 2014

Quantitative Ultrasound: Measurement Considerations For The Assessment Of Muscular Dystrophy And Sarcopenia, Michael O. Harris-Love, Reza Monfaredi, Catheeja Ismail, Marc R. Blackman, Kevin Cleary

Exercise and Nutrition Sciences Faculty Publications

Diagnostic musculoskeletal ultrasound has potential clinical utility in characterizing pathological muscle tissue. Sonography has been long proposed as method of assessing muscle damage due to neuromuscular diseases such as muscular dystrophy, and more recently, changes in body and tissue composition associated with muscle wasting disorders such as sarcopenia. The use of quantitative ultrasound as an adjunct diagnostic procedure has different technical challenges than the traditional use of ultrasound in clinical medicine. Operator-dependent technique and variation are critical considerations when obtaining measures of echointensity (i.e., tissue composition estimates) and tissue dimensions (i.e., muscle thickness) – key elements of the ultrasound assessment …


Effect Of A Lateral Wedge Insole Over A One Week Period In A Healthy Population, Sarah E. Sudheimer Jul 2013

Effect Of A Lateral Wedge Insole Over A One Week Period In A Healthy Population, Sarah E. Sudheimer

Human Movement Studies & Special Education Theses & Dissertations

Medial knee osteoarthritis is a disease that is projected to affect approximately 45% of the U.S. population and is associated with significant morbidity, chronic pain, and limited activity. Laterally wedged insoles are used as an intervention to laterally shift the mechanical axis of the limb and decrease the external knee adduction moment, possibly indicating a shift in load distribution to the lateral compartment of the knee. The aim of this study was to examine the acute effects of a laterally wedged insole in those with valgus and normally aligned knees and to determine prolonged effects after the insole was worn …


Physical Activity And Exercise During Adolescence And Young Adulthood Can Act As Preventative Measures Against The Development Of Osteoporosis In Elderly People, Christine C. Center Apr 2013

Physical Activity And Exercise During Adolescence And Young Adulthood Can Act As Preventative Measures Against The Development Of Osteoporosis In Elderly People, Christine C. Center

Honors College Theses

Osteoporosis, “the silent killer,” is responsible for 8.9 million annual fractures. Although not bound to these factors, osteoporosis typically targets females that are post-menopausal and have a family history of the disease. Osteoporosis is caused by a decrease in bone mass density. Physical activity and exercise and often spoken about when the topic of osteoporosis is discussed because of the impact they have on maintaining bone mass density in an effort to delay osteoporosis. This paper first provides an overview of osteoporosis, explanation of methods of diagnosing osteoporosis, risk factors, complications and treatment for osteoporosis. Topics covered include, bone mass …