Digital Commons Network^™

Diagnostic Journey And Impact Of Enzyme Replacement Therapy For Mucopolysaccharidosis Iva: A Sibling Control Study., Can Ficicioglu, Dena R Matalon, Nicole Luongo, Caitlin Menello, Tracy Kornafel, Andrew J Degnan

Abington Jefferson Health Papers

BACKGROUND: Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. Early recognition, diagnosis, and treatment of this progressive, multisystem disease by enzyme replacement therapy (ERT) can lead to improved outcomes and reduced mortality.

METHODS: This report documents the diagnostic journey and treatment with ERT of three siblings with MPS IVA. Clinical outcome measures included growth, endurance, imaging, cardiac, respiratory, ophthalmology, and laboratory evaluations.

RESULTS: Three siblings, diagnosed at 14.7, 10.1, and 3.2 years of age, demonstrated clinical improvement with weekly infusions of 2.0 mg/kg …

Innovator - Fall 2012

Innovator

02 - A TRANSFORMATIVE GIFT
With his donation of $15 million, the largest single gift in University history, in support of the Kanbar College of Design, Engineering and Commerce, Maurice Kanbar ’52, H’03 continues his unwavering support of his alma mater.

06 - PRESIDENT SPINEELI COMMENTARY
President Spinelli, a leading authority in entrepreneurship, describes the experience of teaching innovation to freshmen.

08 - WHAT'S THE PROBLEM?
Freshmen in the Kanbar College of Design, Engineering and Commerce become professionals and learn how to turn problems into opportunities by working in real-world settings right from the start of their college careers.

12 …

A Dog Lover's Dilemma: Airborne Allergic Contact Dermatitis To Tylosin., Aditi Kale, Anthony A Gaspari

Department of Dermatology and Cutaneous Biology Faculty Papers

Airborne allergic contact dermatitis (AACD) can be caused by airborne chemicals settling on exposed body parts. Repeated exposure to an allergen can induce AACD in the areas of exposed skin (typically, the face, hands, and forearms).

Case Report: A 67-year-old White woman presented in October 2019 with a 4-month history of severe pruritic facial and hand dermatitis, which began in June or July 2019.

Design And Printing Of A Low-Cost 3d-Printed Nasal Osteotomy Training Model: Development And Feasibility Study., Michelle Ho, Jared Goldfarb, Roxana Moayer, Uche Nwagu, Rohan Ganti, Howard Krein, Ryan Heffelfinger, Morgan Leigh Hutchinson

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

BACKGROUND: Nasal osteotomy is a commonly performed procedure during rhinoplasty for both functional and cosmetic reasons. Teaching and learning this procedure proves difficult due to the reliance on nuanced tactile feedback. For surgical simulation, trainees are traditionally limited to cadaveric bones, which can be costly and difficult to obtain.

OBJECTIVE: This study aimed to design and print a low-cost midface model for nasal osteotomy simulation.

METHODS: A 3D reconstruction of the midface was modified using the free open-source design software Meshmixer (Autodesk Inc). The pyriform aperture was smoothed, and support rods were added to hold the fragments generated from the …

Bioactivating A Bone Substitute Accelerates Graft Incorporation In A Murine Model Of Vertical Ridge Augmentation, Jinlong Chen, Xue Yuan, Zhijun Li, Daniel J Bahat, Jill A Helms

Department of Orthopaedic Surgery Faculty Papers

OBJECTIVE: Compared to autologous bone grafts, allogeneic bone grafts integrate slowly, which can adversely affect clinical outcomes. Here, our goal was to understand the molecular mechanisms underlying graft incorporation, and then test clinically feasible methods to accelerate this process.

METHODS: Wild-type and transgenic Wnt "reporter" mice were used in a vertical ridge augmentation procedure. The surgery consisted of tunneling procedure to elevate the maxillary edentulous ridge periosteum, followed by the insertion of bone graft. Micro-computed tomographic imaging, and molecular/cellular analyses were used to follow the bone graft over time. Sclerostin null mice, and mice carrying an activated form of β-catenin …

Jefferson Digital Commons Quarterly Report: July-September 2020, Kelsey Duinkerken, Msi, Larissa Gordon, Mslis, Med, Ma

Jefferson Digital Commons Reports

Included in this Report

• Abington Health Articles
• Articles
• Collaborative Healthcare: Interprofessional Practice, Education, and Evaluation (JCIPE)
• Collaborative Research and Evidence shared Among Therapists and Educators (CREATE Day)
• Covid 19-: Spread the Science, Not the Virus
• Department of Family and Community Medicine Presentations and Grand Rounds
• Master of Population Health Program Thesis and Capstone Presentations
• Master of Public Health Thesis and Capstone Presentations
• Jefferson Surgical Solutions
• The Medicine Forum
• Sex and Gender Health Education Summit 2020
• Student Papers and Posters
• Misc. Uploads
• What people are saying about the Jefferson Digital Repository

Consensus Reclassification Of Inherited Epidermolysis Bullosa And Other Disorders With Skin Fragility., C Has, J W Bauer, C Bodemer, M C Bolling, L Bruckner-Tuderman, A Diem, J-D Fine, A Heagerty, A Hovnanian, M P Marinkovich, A E Martinez, J A Mcgrath, C Moss, D F Murrell, F Palisson, A Schwieger-Briel, E Sprecher, K Tamai, J Uitto, D T Woodley, G Zambruno, J E Mellerio

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB).

OBJECTIVES: We sought to reclassify disorders with skin fragility, with a focus on EB, based on new clinical and molecular data.

METHODS: This was a consensus expert review.

RESULTS: In this latest consensus report, we introduce the concept of genetic disorders with skin fragility, of which classical EB represents the prototype. Other disorders with skin fragility, where blisters are a minor part of the clinical picture or are not seen because skin …

Unexpected Brain Imaging Findings In Patients With Seizures, Boulenouar Mesraoua, Matthias Koepp, Bernhard Schuknecht, Dirk Deleu, Hassan J Al Hail, Gayane Melikyan, Lubna Elsheikh, A A Asadi-Pooya

Department of Neurology Faculty Papers

New imaging technologies have advanced our ability to localize the epileptogenic zone in patients with epilepsy. As a result of the constant improvement of the image quality, magnetic resonance imaging (MRI) has become the most important ancillary tool in the management of patients with epilepsy. Magnetic resonance imaging for the evaluation of patients with epilepsy should be done using a special temporal lobe protocol and read by physicians experienced with the findings in patients with epilepsy. On the other hand, in the healthy populations, incidental structural brain abnormalities have been reported in 18% of people. Incidental, subtle, or unexpected structural …

Minimizing Penile Prosthesis Implant Infection: What Can We Learn From Orthopedic Surgery?, Selin Isguven, Paul H. Chung, Priscilla Machado, Lauren J. Delaney, Antonia Chen, Flemming Forsberg, Noreen J. Hickok

Department of Radiology Faculty Papers

The implantation of penile protheses for the surgical treatment of erectile dysfunction has risen in popularity over the past several decades. Considerable advances have been made in surgical protocol and device design, specifically targeting infection prevention. Despite these efforts, device infection remains a critical problem, which causes significant physical and emotional burden to the patient. The aim of this review is to broaden the discussion of best practices by not only examining practices in urology, but additionally delving into the field of orthopedic surgery to identify techniques and approaches that may be applied to penile prothesis surgery.

The Role Of Nerves In Skeletal Development, Adaptation, And Aging., Ryan E Tomlinson, Blaine A Christiansen, Adrienne A Giannone, Damian C Genetos

Department of Orthopaedic Surgery Faculty Papers

The skeleton is well-innervated, but only recently have the functions of this complex network in bone started to become known. Although our knowledge of skeletal sensory and sympathetic innervation is incomplete, including the specific locations and subtypes of nerves in bone, we are now able to reconcile early studies utilizing denervation models with recent work dissecting the molecular signaling between bone and nerve. In total, sensory innervation functions in bone much as it does elsewhere in the body-to sense and respond to stimuli, including mechanical loading. Similarly, sympathetic nerves regulate autonomic functions related to bone, including homeostatic remodeling and vascular …

How Accurate Is The Neurosurgery Literature? A Review Of References., Thiago S Montenegro, Kevin Hines, Glenn A Gonzalez, Umma Fatema, Paul P Partyka, Sara Thalheimer, James Harrop

Department of Neurosurgery Faculty Papers

BACKGROUND: The reference list is an important part of academic manuscripts. The goal of this study is to evaluate the reference accuracy in the field of neurosurgery.

METHODS: This study examines four major peer-reviewed neurosurgery journals, chosen based on their clinical impact factor: Neurosurgery, J Neurosurg, World Neurosurg, and Acta Neurochir. For each of the four journals, five articles from each of the journal's 12 issues published in 2019 were randomly selected using an online generator. This resulted in a total of 240 articles, 60 from each journal. Additionally, from each article's list of references, one reference was again randomly …

Caring For Aging Patients With Idd/Asd/Spmi, E. Adel Herge, Otd, Otr/L, Faota, Rachelle Rene, Phd, Mary M. Stephens, Md

Department of Family & Community Medicine Presentations and Grand Rounds

Outline and Objectives:

• What are we talking about?
• Prevalence and associated co-morbidities
• Healthy aging pearls for special populations
• A case: Dr. Herge. . . . From the OT perspective
• Best practices for referral and resources
• A case: Dr. Rene. . . .From the behavioral health perspective
• Best practices for referral and resources

Dramatic Outcomes In Epilepsy: Depression, Suicide, Injuries, And Mortality, Boulenouar Mesraoua, Dirk Deleu, Al Hail Hassan, Melykian Gayane, Alsheikh Lubna, Musab Abdalhalim Ali, Torbjorn Tomson, Bassel Abou Khalil, J Helen Cross, Ali A Asadi-Pooya

Department of Neurology Faculty Papers

In this narrative review, we will discuss some of the significant risks and dramatic consequences that are associated with epilepsy: depression, suicide, seizure-related injuries, and mortality, both in adults and in children. Considering the high prevalence of depression among people with epilepsy (PWE), routine and periodic screening of all PWE for early detection and appropriate management of depression is recommended. PWE should be screened for suicidal ideation regularly and when needed, patients should be referred for a psychiatric evaluation and treatment. When starting an antiepileptic drug (AED) or switching from one to another AED, patients should be advised to report …

How I Treat Acute And Persistent Sickle Cell Pain., Samir K. Ballas

Cardeza Foundation for Hematologic Research

Sickle pain is the hallmark of sickle cell disease (SCD). It could be acute, persistent/relapsing, chronic, or neuropathic. Although there is a general consensus that pain is a major manifestation of SCD, there is a controversy as to the types of pain and their interrelationship between acute, chronic, relapsing, persistent, etc. This report first reviews the general approach to the management of acute vaso-occlusive crisis (VOC) pain, including education, counseling, pharmacotherapy, non-pharmacotherapy, and fluid therapy. This is followed by the presentation of five patients that represent typical issues that are commonly encountered in the management of patients with SCD. These …

When Limb Surgery Has Become The Only Life-Saving Therapy In Fop: A Case Report And Systematic Review Of The Literature, Esmée Botman, Sanne Treurniet, Wouter D Lubbers, Lothar A Schwarte, Patrick R Schober, Louise Sabelis, Edgar J G Peters, Annelies Van Schie, Ralph De Vries, Zvi Grunwald, Bernard J Smilde, Jakko A Nieuwenhuijzen, Marieke Visser, Dimitra Micha, Nathalie Bravenboer, J Coen Netelenbos, Bernd P Teunissen, Pim De Graaf, Pieter G H M Raijmakers, Jan Maerten Smit, Elisabeth M W Eekhoff

Department of Anesthesiology Faculty Papers

Fibrodysplasia ossificans progressiva (FOP) is a rare disease in which heterotopic ossification (HO) is formed in muscles, tendons and ligaments. Traumatic events, including surgery, are discouraged as this is known to trigger a flare-up with risk of subsequent HO. Anesthetic management for patients with FOP is challenging. Cervical spine fusion, ankylosis of the temporomandibular joints, thoracic insufficiency syndrome, restrictive chest wall disease, and sensitivity to oral trauma complicate airway management and anesthesia and pose life-threatening risks. We report a patient with FOP suffering from life-threatening antibiotic resistant bacterial infected ulcers of the right lower leg and foot. The anesthetic, surgical …

Hearing Loss In Mucopolysaccharidoses: Current Knowledge And Future Directions., Jeremy Wolfberg, Keerthana Chintalapati, Shunji Tomatsu, Kyoko Nagao

Department of Pediatrics Faculty Papers

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency of one of the enzymes involved in the degradation of glycosaminoglycans. Hearing loss is a common clinical presentation in MPS. This paper reviews the literature on hearing loss for each of the seven recognized subtypes of MPS. Hearing loss was found to be common in MPS I, II, III, IVA, VI, and VII, and absent from MPS IVB and MPS IX. MPS VI presents primarily with conductive hearing loss, while the other subtypes (MPS I, MPS II, MPS III, MPS IVA, and MPS VII) can present with …

A Surgeon's Handedness In Direct Anterior Approach-Hip Replacement., Xiangpeng Kong, Minzhi Yang, Alvin Ong, Renwen Guo, Jiying Chen, Yan Wang, Wei Chai

Department of Orthopaedic Surgery Faculty Papers

BACKGROUND: The impact of handedness on clinical outcomes was easily overlooked in hip replacement. This study aimed to find whether the component positioning and hip function were affected by the handedness in total hip arthroplasty (THA) through direct anterior approach (DAA).

METHODS: Total 102 patients who underwent bilateral DAA-THAs simultaneously between May 2016 and November 2018 in our institute were reviewed. All surgeries were operated by one right-handed surgeon. Their demographic, cup positioning, stem alignment, femoral stem fit, Harris hip score (HHS), intraoperative and postoperative complications were used to evaluate the role of handedness in DAA.

RESULTS: The inclination of …

Jefferson Digital Commons Quarterly Report: April-June 2020, Kelsey Duinkerken, Msi, Larissa Gordon, Mslis, Med, Ma

Jefferson Digital Commons Reports

This quarterly report includes:

• New Collection: COVID-19 Papers, Posters, and Presentations
• Articles
• Collaborative Research and Evidence Among Therapists and Educators (CREATE) Day Presentations
• COVID-19 Working Papers
• Dissertations
• Doctorate of Occupational Therapy (OTD) Capstones
• Educational Materials
• From the Archives
• Grand Rounds and Lectures
• House Staff Quality Improvement and Patient Safety Posters
• JeffMD Scholarly Inquiry Abstracts
• Journals and Newsletters
• Master of Public Health Capstone Presentations
• Posters
• Spread the Science, NOT the Virus Seminar Series
• What People are Saying About the Jefferson the Digital Commons

Social Services Cases, Maria Hervada-Page, Mms

Department of Family & Community Medicine Presentations and Grand Rounds

Learning Objectives

• Understand common Social Work referrals and possible solutions
• Understand the roles of the members of our team
• Understand the basics of insurance
• Basic community resources

First Rwanda National Trauma Symposium 2019: Challenges And Priorities., Ashley Rosenberg, Faustin Ntirenganya, Irene Bagahirwa, Gabin Mbanjumucyo, Lambert Rutayisire, Severien Muneza, Innocent Nzeyimana, Eric Benimana, Ernest Nahayo, Busisiwe Bhengu, Assuman Nuhu, Arsene Muhumuza, Costica Uwitonze, Ghislaine Umwali, Menelas Nkeshimana, Jeanne D'Arc Nyinawankusi, Elizabeth Krebs, Jean Marie Uwitonze, Igance Kabagema, Theophile Dushime, Jean Claude Byiringiro, Gilles Ndayisaba, Sudha Jayaraman

Department of Emergency Medicine Faculty Papers

No abstract provided.

Dermatologists In The Wild West, 1870-1900: The Early Pioneers From The Mississippi River To The Pacific Coast., Leonard J Hoenig, Lawrence Charles Parish

Department of Dermatology and Cutaneous Biology Faculty Papers

During the Wild West era of American history (approximately 1870-1900), at least 53 dermatologists settled between the Mississippi River and the Pacific Coast. In 1870, two dermatologists began their practice in the city of St Louis, Missouri (William Augustus Hardaway and Solomon Claiborne Martin, Sr) and one dermatologist started his practice in San Francisco, California (George J. Bucknall). By 1900, 50 more dermatologists had settled in 19 cities located in the American West (Tables 1,2). There, they established practices, initiated academic programs, and pioneered dermatology as a medical specialty in the western United States. This contribution provides brief biographic profiles …

Diagnosis And Management Of Common Hand Infections., Vivek K. Bilolikar, Daniel A Seigerman, Asif M. Ilyas

Rothman Institute Faculty Papers

• While many hand infections are superficial, diligent evaluation, diagnosis, and treatment of these infections are central for preventing disability and morbidity.
• Maintaining a wide differential diagnosis is important as some hand infections may mimic others.
• In geographic areas with more than a 10% to 15% prevalence of community-acquired methicillin-resistant Staphylococcus aureus (MRSA) hand infections, empiric antibiotics should adequately cover MRSA.
• Once culture results are available, antibiotic regimens should be narrowed to reduce the development of resistant pathogens.

Jefferson Digital Commons Quarterly Report: January-March 2020, Kelsey Duinkerken, Msi, James Copeland, Libt, Larissa Gordon, Mslis, Med, Ma

Jefferson Digital Commons Reports

This quarterly report includes:

• New Look for the Jefferson Digital Commons
• Articles
• COVID-19 Working Papers
• Educational Materials
• From the Archives
• Grand Rounds and Lectures
• JeffMD Scholarly Inquiry Abstracts
• Journals and Newsletters
• Master of Public Health Capstones
• Oral Histories
• Posters and Conference Presentations
• What People are Saying About the Jefferson the Digital Commons

Mucopolysaccharidosis Iva: Diagnosis, Treatment, And Management., Kazuki Sawamoto, José Víctor Álvarez González, Matthew Piechnik, Francisco J. Otero, Maria L. Couce, Yasuyuki Suzuki, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. The deficiency of this enzyme accumulates the specific glycosaminoglycans (GAG), keratan sulfate, and chondroitin-6-sulfate mainly in bone, cartilage, and its extracellular matrix. GAG accumulation in these lesions leads to unique skeletal dysplasia in MPS IVA patients. Clinical, radiographic, and biochemical tests are needed to complete the diagnosis of MPS IVA since some clinical characteristics in MPS IVA are overlapped with other disorders. Early and accurate diagnosis is vital to optimizing patient management, which provides a …

Using The Interprofessional Education Collaborative (Ipec) Core Competencies To Build A Microcredentialing Framework For Interprofessional Curriculum Development, Haley Fribance, Susan Meyer, Phd

Collaborative Healthcare: Interprofessional Practice, Education and Evaluation (JCIPE)

We are developing a framework to 1) guide the development of a comprehensive interprofessional curriculum and 2) organize learning activities and assessments to enable student achievement of each domain outlined in the IPEC Core Competencies (IPEC, 2016). Within the framework, each of the four IPEC Core Competency domains represents a microcredential that could be earned by a student. An interprofessional curriculum built on a framework of microcredentials will reflect the four characteristics that define quality interprofessional education (IPE)—rationale, outcome-based goals, deliberate design, and assessment and evaluation (Barzansky et al., 2019). The design and implementation of this interprofessional microcredential system will …

Accepting Higher Morbidity In Exchange For Sacrificing Fewer Animals In Studies Developing Novel Infection-Control Strategies., Henk J. Busscher, Willem Woudstra, Theo G. Van Kooten, Paul Jutte, Linqi Shi, Jianfeng Liu, Wouter L.J. Hinrichs, Hendrik W. Frijlink, Rui Shi, Jian Liu, Javad Parvizi, Stephen Kates, Vincent M. Rotello, Thomas P. Schaer, Dustin Williams, David W. Grainger, Henny C. Van Der Mei

Rothman Institute Faculty Papers

Preventing bacterial infections from becoming the leading cause of death by the year 2050 requires the development of novel, infection-control strategies, building heavily on biomaterials science, including nanotechnology. Pre-clinical (animal) studies are indispensable for this development. Often, animal infection outcomes bear little relation to human clinical outcome. Here, we review conclusions from pathogen-inoculum dose-finding pilot studies for evaluation of novel infection-control strategies in murine models. Pathogen-inoculum doses are generally preferred that produce the largest differences in quantitative infection outcome parameters between a control and an experimental group, without death or termination of animals due to having reached an inhumane end-point …

Microrna And Transcription Factor Co-Regulatory Networks And Subtype Classification Of Seminoma And Non-Seminoma In Testicular Germ Cell Tumors., Guimin Qin, Saurav Mallik, Ramkrishna Mitra, Aimin Li, Peilin Jia, Christine M. Eischen, Zhongming Zhao

Department of Cancer Biology Faculty Papers

Recent studies have revealed that feed-forward loops (FFLs) as regulatory motifs have synergistic roles in cellular systems and their disruption may cause diseases including cancer. FFLs may include two regulators such as transcription factors (TFs) and microRNAs (miRNAs). In this study, we extensively investigated TF and miRNA regulation pairs, their FFLs, and TF-miRNA mediated regulatory networks in two major types of testicular germ cell tumors (TGCT): seminoma (SE) and non-seminoma (NSE). Specifically, we identified differentially expressed mRNA genes and miRNAs in 103 tumors using the transcriptomic data from The Cancer Genome Atlas. Next, we determined significantly correlated TF-gene/miRNA and miRNA-gene/TF …

Internal Medicine Consultation For Dentists, Nina Mingioni, Md

Clinical Education Teaching Tools

Learning Objectives:

• Recognize ubiquitous nature of common medical condition in general population
• Discuss implications of common medical conditions on dental care of patients
• Identify concerns affecting patients that would necessitate medical consultation prior to dental intervention

Utility Of Point Of Care Ultrasound For Identifying Dental Abscesses In Emergency Department Patients Presenting With Dental Pain, Matthew Cervantes, Kelly Goodsell, Md, Arthur Au, Md

Phase 1

Introduction: Computed tomography (CT) is the current gold standard for diagnosing dental abscesses in the Emergency Department (ED). There are limitations to using CT, including high cost, radiation exposure, and lengthy time to diagnosis. Point of Care Ultrasound (POCUS) is an alternative imaging modality that does not have these limitations, and is already used to diagnose other soft tissue abscesses. The efficacy of POCUS for diagnosing suspected dental abscesses has never been investigated. The purpose of this project is to compare the utility of POCUS to CT in diagnosing suspected dental abscesses in the ED.

Methods: A convenience …