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 …

Week Of November 21, 2016, New York Medical College

InTouch

• Music and Medicine Event Pays Homage to Mozart
• NYMC Celebrates Westchester's Top Doctors
• StuHE Hosts Seventh Annual Career Mentor Session
• NYMC Radiation Oncology Interest Club Selected as an ASCO-Sponsored Cancer Interest Group

Medical School Watercooler Newsletter - November 20, 2016, Lindsey Lyle

Watercooler Newsletter

This is the November 20, 2016 edition of the Frederick P. Whiddon College of Medicine's newsletter - Watercooler.

Contents Include:

• USA Physicians Group Clinics Begin Moving into Strada Patient Care Center

Increased Mitochondrial Superoxide In The Brain, But Not Periphery, Sensitizes Mice To Angiotensin Ii-Mediated Hypertension., Adam J. Case, Jun Tian, Matthew C. Zimmerman

Journal Articles: Cellular & Integrative Physiology

Angiotensin II (AngII) elicits the production of superoxide (O2(•-)) from mitochondria in numerous cell types within peripheral organs and in the brain suggesting a role for mitochondrial-produced O2(•-) in the pathogenesis of hypertension. However, it remains unclear if mitochondrial O2(•-) is causal in the development of AngII-induced hypertension, or if mitochondrial O2(•-) in the absence of elevated AngII is sufficient to increase blood pressure. Further, the tissue specific (i.e. central versus peripheral) redox regulation of AngII hypertension remains elusive. Herein, we hypothesized that increased mitochondrial O2(•-) in the absence of pro-hypertensive stimuli, such as AngII, elevates baseline systemic mean arterial …

Hiv Glycoprotein Gp120 Impairs Fast Axonal Transport By Activating Tak1 Signaling Pathways, Sarah H. Berth, Nichole Mesnard-Hoaglin, Bin Wang, Hajwa Kim, Yuyu Song, Maria Sapar, Gerardo Morfini, Scott T. Brady

Publications and Research

Sensory neuropathies are the most common neurological complication of HIV. Of these, distal sensory polyneuropathy (DSP) is directly caused by HIV infection and characterized by length-dependent axonal degeneration of dorsal root ganglion (DRG) neurons. Mechanisms for axonal degeneration in DSP remain unclear, but recent experiments revealed that the HIV glycoprotein gp120 is internalized and localized within axons of DRG neurons. Based on these findings, we investigated whether intra-axonal gp120 might impair fast axonal transport (FAT), a cellular process critical for appropriate maintenance of the axonal compartment. Significantly, we found that gp120 severely impaired both anterograde and retrograde FAT. Providing a …

An International Comparison Of Intervention Practices For Children With Speech Sound Disorder, Eleanor Sugden, Elise Baker, Natalie Munro, A. Lynn Williams, Carol Trivette

ETSU Faculty Works

Two-hundred and seven speech-language pathologists (SLPs) from the US and 335 SLPs from Australia were surveyed about the intervention, service delivery models and intensity of intervention that they provide to children with speech sound disorder. Differences in practices, and implications for evidence-based practice and clinical outcomes, are discussed.

Identification Of Speech-Language Disorders In Toddlers, A. Lynn Williams, Carol Stoel-Gammon

ETSU Faculty Works

This session is developed by, and presenters invited by, Speech Sound Disorders in Children and Language in Infants Toddlers and Preschoolers. This invited session provides an overview of early speech/language development with a focus on identifying delay/disorders in toddlers. Types of speech/language behaviors in prelinguistic/ early linguistic development that serve as “red flags” for possible disorders will be discussed. The need for developmentally appropriate assessments will be highlighted.

Nursing Preceptors And Meaning Making, Janice Miller, Brian Vivona, Gene Roth

The Qualitative Report

This exploratory qualitative study was performed in order to identify the potentially transformative learning experiences of nurse preceptors. Semi-structured in depth interviews with nurse preceptors revealed how the experiences of acting as a teacher, trainer, and coach to new nurses bridges the gap between formal education and nursing practice. The lived experiences and the reflections on those experiences were examined in order to identify how the preceptor derived meaning from assisting new nurses into the profession. Such critical reflection revealed how these experiences resulted in new meaning schemes as well as identified some barriers to performing the receptor role.

Systemic-To-Pulmonary Artery Pressure Ratio As A Predictor Of Patient Outcome Following Liver Transplantation, Annette Rebel, Dung Nguyen, Brooke Bauer, Paul A. Sloan, Amy Dilorenzo, Zaki-Udin Hassan

Anesthesiology Faculty Publications

AIM To assess the value of the mean systemic-to-pulmonary artery pressure (MAP/mPAP) ratio for predicting outcomes following orthotopic liver transplant (OLT).

METHODS A retrospective data analysis was performed and data (mean arterial blood pressure, mean pulmonary artery pressure and Cardiac Index) were collected at several points during OLT. Outcomes evaluated were duration of postoperative endotracheal intubation [ET; minutes after intensive care unit (ICU) arrival], length of ICU stay, total hospitalization and frequency of immediate postoperative complications. A total of 91 patients were included in the data analysis. Based on the intraoperative course of the MAP/mPAP ratio, 2 hemodynamic responses were …

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.

Enhancing Phd Preparation Through Shared Ideas Across Csd Program, Elizabeth Crais, Ruth Bentler, Lynne Hewitt, Jennifer Lister, Jennifer Simpson, Ronald Gillam, Barbara Cone, A. Lynn Williams, Glen Tellis

ETSU Faculty Works

Shortages of PhD graduates to fill CSD faculty positions have been a concern for over 15 years. The ASHA AAB (collaborating with CAPCSD) completed interviews of Coordinators of almost all 76 CSD PhD Programs. Results and successful aspects of the programs will be highlighted to stimulate discussion among participants.

Exploring Molecular Mechanisms Of Paradoxical Activation In The Braf Kinase Dimers: Atomistic Simulations Of Conformational Dynamics And Modeling Of Allosteric Communication Networks And Signaling Pathways, Amanda Tse, Gennady M. Verkhivker

Mathematics, Physics, and Computer Science Faculty Articles and Research

The recent studies have revealed that most BRAF inhibitors can paradoxically induce kinase activation by promoting dimerization and enzyme transactivation. Despite rapidly growing number of structural and functional studies about the BRAF dimer complexes, the molecular basis of paradoxical activation phenomenon is poorly understood and remains largely hypothetical. In this work, we have explored the relationships between inhibitor binding, protein dynamics and allosteric signaling in the BRAF dimers using a network-centric approach. Using this theoretical framework, we have combined molecular dynamics simulations with coevolutionary analysis and modeling of the residue interaction networks to determine molecular determinants of paradoxical activation. We …

Inflammatory Properties Of Diet And Glucose-Insulin Homeostasis In A Cohort Of Iranian Adults, Nazanin Moslehi, Behnaz Ehsani, Parvin Mirmiran, Nitin Shivappa, Maryam Tohidi, James R. Hébert, Fereidoun Azizi

Faculty Publications

We aimed to investigate associations of the dietary inflammatory index (DII) with glucose-insulin homeostasis markers, and the risk of glucose intolerance. This cross-sectional study included 2975 adults from the Tehran Lipid and Glucose Study. Fasting plasma glucose (FPG), 2-h post-load glucose (2h-PG), and fasting serum insulin were measured. Homeostatic model assessment of insulin resistance index (HOMA-IR) and β-cell function (HOMA-B), and the quantitative insulin sensitivity check index (QUICKI) were calculated. Glucose tolerance abnormalities included impaired fasting glucose (IFG), impaired glucose tolerance (IGT), and type 2 diabetes (T2DM). DII scores were positively associated with 2h-PG (β = 0.04; p = 0.05). …

Current Antibiotics And Future Herbal Extract Methods To Treat Methicillin-Resistant Staphylococcus Aureus (Mrsa): Focusing On Inhibition Of Penicillin-Binding Protein 2a (Pbp2a), Mgayya R. Makullah

Senior Honors Theses

Methicillin-Resistant Staphylococcus aureus (MRSA) has developed resistance towards a number of antibiotics. This resistance creates a challenge when trying to treat MRSA with a number of antibiotics. This is mainly caused by the penicillin-binding proteins 2a (PBP2a). PBP2a have significantly less affinity for beta-lactam antibiotics compared to the other penicillin-binding proteins (PBPs) expressed by non-resistant strains. New treatments involving a combination of antibiotics and herbal extracts are being developed and used to inactivate PBP2a, allowing the previous ineffective antibiotics to be more effective.

Influence Of Posture-Cuing Shirt On Tennis Serve Kinematics In Division Iii Tennis Players, Joseph Zappala, Caroline Orrego, Emily Boe, Heather Fechner, Derek Salminen, Daniel Cipriani

Physical Therapy Faculty Articles and Research

Objective: Injuries to the shoulder complex are common in overhead athletes, often related to kinematics of the shoulder complex. This study evaluated the influence of a posture-cuing shirt on internal rotation velocity of the shoulder during a tennis swing and to determine this influence on shoulder external rotation position. Methods: Nine healthy competitive college tennis players from a Division III college participated in this study. High speed motion capture allowed for 3-D analysis of shoulder kinematics during a tennis serve. Two conditions were evaluated while the athletes performed a high velocity tennis serve: standard tennis shirt and a …

Moseying Along At The Fda, Rodney Richmond

Faculty Research ​and Publications

No abstract provided.

Towards An Integrated Primary And Secondary Hiv Prevention Continuum For The United States: A Cyclical Process Model, Tim Horn, Jennifer Sherwood, Robert H. Remien, Denis Nash, Judith D. Auerbach

Publications and Research

Introduction: Every new HIV infection is preventable and every HIV-related death is avoidable. As many jurisdictions around the world endeavour to end HIV as an epidemic, missed HIV prevention and treatment opportunities must be regarded as public health emergencies, and efforts to quickly fill gaps in service provision for all people living with and vulnerable to HIV infection must be prioritized.

Discussion: We present a novel, comprehensive, primary and secondary HIV prevention continuum model for the United States as a conceptual framework to identify key steps in reducing HIV incidence and improving health outcomes among those vulnerable to, as well …

Bariatric Surgery Weight-Loss Maintenance Among Hispanics: A Multiple Case Study, Minerva Aguilera

Nursing Theses and Dissertations

Obesity significantly contributes to human illness and to subsequent rising healthcare expenditures. Bariatric surgery has been identified as the only effective option to achieve the weight loss necessary for those who are morbidly obese. Previous research indicated that maintaining significant weight loss has been a problem for individuals who undergo bariatric surgery. The number of bariatric surgeries is increasing and factors that contribute to or interfere following bariatric-surgery weight-loss maintenance need to be determined. Research on weight-loss maintenance following bariatric surgery is very limited, particularly among the Hispanic population. This case-study research used an explanatory, multiple-case-study design to gain greater …

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.

Maximize How You Supervise: Report Of The 2016 Asha Ad Hoc Committee On Supervision Training, Vicki Mccready, Kevin Mcnamara, Nancy Nelson, Samantha Procaccini, Stephanie Adamovich, Karleung Cheung, Carol Dudding, Natalie Lenzen, Loretta Nunez, A. Lynn Williams

ETSU Faculty Works

The success of existing and future audiologists and speech-language pathologists is dependent on skilled supervision. This session presents the findings of the ASHA Ad Hoc Committee on Supervision Training, including resources to enhance supervisor/preceptor skills and strategies for growing a culture of expectation for such training.

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.

The H.E.R.E.© Curricular Model...Educating Nursing Students For 21st Century Health Care, Susan Egger, Phd, Rn, Mary Bouchaud, Phd, Rn, Beth Ann Swan, Phd, Crnp, Faan, Ann Phalen, Phd, Aprn, Nnp-Bc

College of Nursing Posters

Background:

The focus on traditional acute, hospital-based health care is being replaced with a new paradigm aimed at providing primary care, care of populations, and care across transitions and providers. As changes unfold, nursing education is challenged to prepare graduates who can effectively function in new healthcare environments of the 21st century. In response, the Jefferson College of Nursing (JCN) embarked on the ambitious task of designing a new 21st century baccalaureate nursing curriculum over a 13-month period. Although a 13-month turnaround time for curriculum design is unprecedented, what is most unique about JCN’s initiative is that it began with …

The H.E.R.E.© Curricular Model…Educating Nursing Students For 21st Century Health Care, Susan Egger, Msn, Rn, Mary Bouchaud, Phd, Rn, Beth Ann Swan, Phd, Crnp, Faan, Ann Phalen, Phd, Aprn, Nnp-Bc

College of Nursing Posters

Background

The focus on traditional acute, hospital-based health care is being replaced with a new paradigm aimed at providing primary care, care of populations, and care across transitions and providers. As changes unfold, nursing education is challenged to prepare graduates who can effectively function in new healthcare environments of the 21st century. In response, the Jefferson College of Nursing (JCN) embarked on the ambitious task of designing a new 21st century baccalaureate nursing curriculum over a 13-month period. Although a 13-month turnaround time for curriculum design is unprecedented, what is most unique about JCN’s initiative is that it began with …

Prevalence And Incidence Of Neurological Disorders Among Adult Ugandans In Rural And Urban Mukono District; A Cross-Sectional Study, Michael Devereaux, Anthony Furlan, Martha Sajatovic

Faculty Scholarship

Background: The burden of neurological diseases is increasing in developing countries. However, there is a prominent scarcity of literature on the incidence of neurological diseases in sub-Saharan Africa. This study was therefore undertaken to determine the prevalence and incidence of neurological diseases in this setting to serve as a baseline for planning and care for neurological disorders in Uganda. Methods: The study was conducted within rural and urban Mukono district, east of Kampala city of Uganda, central region. Over a period of six months, a cross sectional survey was conducted and screening was performed using a standardized questionnaire. All subjects …

Immediate And Short-Term Effects Of Kinesio® Taping On Lower Trunk Range Of Motion In Division I Athletes, Hoshito Mizutani

Dissertations and Theses

Low back pain (LBP) is a common health problem that contributes to the high cost of health care. Improvement in trunk range of motion has been considered to be an important factor in ameliorating the symptoms of LBP. Kinesio® taping is a prominent therapeutic modality commonly used in the variety of populations for treating musculoskeletal conditions. However, previous research on the efficacy of Kinesio® taping for LBP is limited. The purpose of this study was to investigate the immediate and short-term effects of Kinesio® taping with the muscle inhibition technique on active trunk flexion range of motion. Twenty-five subjects with …

Gene Expression Profiling And The Role Of Hsf1 In Ovarian Cancer In 3d Spheroid Models, Trillitye Paullin

USF Tampa Graduate Theses and Dissertations

Ovarian cancer is the most lethal gynecological cancer, with over 200,000 women diagnosed each year and over half of those cases leading to death. These poor statistics are related to a lack of early symptoms and inadequate screening techniques. This results in the cancer going undetected until later stages when the tumor has metastasized through a process that requires the epithelial to mesenchymal transition (EMT). In lieu of traditional monolayer cell culture, EMT and cancer progression in general is best characterized through the use of 3D spheroid models. In this study, we examine gene expression changes through microarray analysis in …

The Effects Of Synthetic And Dietary Therapeutics On Learning, Memory, Motor Coordination, And Seizure In An Angelman Syndrome Mouse Model, Stephanie Lynn Ciarlone

USF Tampa Graduate Theses and Dissertations

Angelman syndrome (AS) is a rare genetic and neurological disorder presenting with severe developmental delay, ataxia, epilepsy, and lack of speech. AS is associated with a neuron-specific loss of function of the maternal UBE3A allele, a gene encoding an E3 ubiquitin ligase. Currently, no cure exists for this disorder; however, recent research using an AS mouse model suggests that pharmacological intervention is plausible, and can alleviate some of the detrimental phenotypes reported in AS patients.

Although there is no curative treatment for AS, seizure medication and behavioral therapies are most commonly prescribed in order to minimize symptoms. However, these options …

Levels Of Distress Among Women Veterans Attending A Women’S Health Specialty Clinic In The Va Healthcare System, Debbie T. Devine

USF Tampa Graduate Theses and Dissertations

Currently, between 21.9 and 23 million veterans have served in the United States armed forces. Of those, 2 million are women, and of those, only 6.5% use the Veterans Health Administration system. These females often suffer from physical and mental health disorders, and overall impaired quality of life (QOL), rendering their healthcare needs complex. Seeking, and providing care in this specialty area may become overwhelming not only for the women seeking the care, but also for healthcare systems that are unfamiliar with the specific needs of this population.

A retrospective medical records review was completed of 51 female veterans between …

When The Challenges Of Aging And Visual Impairment Collide: Working Together To Build A Toolbox Of Rehab Ideas Of Best Care For Older Adults, Regula H. Robnett, Kathy Clarrage

Occupational Therapy Faculty Presentations

Workshop/presentation by Regi Robnett, Ph.D., OTR/L, FAOTA, professor in the UNE Department of Occupational Therapy and Kathy Clarrage, COMS, Certified Orientation and Mobility Specialist for the State of Maine. Given at the North East Chapter of the Association for Education and Rehabilitation for the Blind and Visually Impaired (NEAER) conference, this presentation encouraged health care providers to work as a team to care for older, visually impaired adults. The professional audience included orientation and mobility specialists, vision rehabilitation therapists, low vision specialists, administrators in the field of blindness, social workers in the field of blindness and vocational rehabilitation counselors.

Accuracy Requirements And Uncertainties In Radiotherapy: A Report Of The International Atomic Energy Agency., Debbie Van Der Merwe, Jacob Van Dyk, Brendan Healy, Eduardo Zubizarreta, Joanna Izewska, Ben Mijnheer, Ahmed Meghzifene

Oncology Publications

BACKGROUND: Radiotherapy technology continues to advance and the expectation of improved outcomes requires greater accuracy in various radiotherapy steps. Different factors affect the overall accuracy of dose delivery. Institutional comprehensive quality assurance (QA) programs should ensure that uncertainties are maintained at acceptable levels. The International Atomic Energy Agency has recently developed a report summarizing the accuracy achievable and the suggested action levels, for each step in the radiotherapy process. Overview of the report: The report seeks to promote awareness and encourage quantification of uncertainties in order to promote safer and more effective patient treatments. The radiotherapy process and the radiobiological …