Medicine and Health Sciences Commons^™

Molecular Genetic Studies And Delineation Of The Oculocutaneous Albinism Phenotype In The Pakistani Population, Thomas J. Jaworek, Tasleem Kausar, Shannon M. Bell, Nabeela Tariq, Muhammad I. Maqsood, Asma Sohail, Muhammad Ali, Furhan Iqbal, Shafqat Rasool, Saima Riazuddin, Rehan S. Shaikh, Zubair M. Ahmed

Obstetrics and Gynecology Faculty Publications

Background: Oculocutaneous albinism (OCA) is caused by a group of genetically heterogeneous inherited defects that result in the loss of pigmentation in the eyes, skin and hair. Mutations in the TYR, OCA2, TYRP1 and SLC45A2 genes have been shown to cause isolated OCA. No comprehensive analysis has been conducted to study the spectrum of OCA alleles prevailing in Pakistani albino populations.

Methods: We enrolled 40 large Pakistani families and screened them for OCA genes and a candidate gene, SLC24A5. Protein function effects were evaluated using in silico prediction algorithms and ex vivo studies in human melanocytes. The effects of splice-site …

Foodborne Illness Outbreak Response: A Snapshot Of Ohio, Calen Wherry

Master of Public Health Program Student Publications

Biosurveillance is one of the primary roles of local Public health offices. As the all-hazards (biological, chemical, and radiation emergencies) approach adds to the responsibilities already performed in foodborne illness outbreak response, it is crucial to assess the capabilities and robustness of the local public health Foodborne Illness (FBI) response. By surveying the most populated counties in Ohio with a checklist based on the 2009 Council for Improvement of Foodborne Outbreak Response (CIFOR) guidelines, it was possible to obtain a snapshot of the current outbreak response capabilities. Though only one county reported 100% compliance with the checklist, the overall average …

Analysis Of The Mmp-Dependent And Independent Functions Of Tissue Inhibitor Of Metalloproteinase-2 On The Invasiveness Of Breast Cancer Cells, Logan A. Walsh, Mario A. Cepeda, Sashko Damjanovski

Paediatrics Publications

Matrix metalloproteinases (MMPs) are secreted endopeptidases that play an essential role in remodeling the extracellular matrix (ECM). MMPs are primarily active during development, when the majority of ECM remodeling events occurs. In adults, elevated MMP activity has been observed in many pathological conditions such as cancer and osteoarthritis. The proteolytic activity of MMPs is controlled by their natural inhibitors - the tissue inhibitor of metalloproteinases (TIMPs). In addition to blocking MMP-mediated proteolysis, TIMPs have a number of MMP-independent functions including binding to cell surface proteins thereby stimulating signaling cascades. TIMP-2, the most studied member of the family, can both inhibit …

Male Breast Cancer, Edward Yu

Data and Test Instruments

No abstract provided.

Psoas Abscess - A Teaching File, Adina Feinberg, Vivian Mcalister

Data and Test Instruments

Case Report: A 43-year-old woman presented to the emergency room at University Hospital, London Health Sciences Centre with an eight-day history of lower back pain. She had presented one-week prior with similar symptoms and was treated conservatively for sciatica. Since then, her pain had progressively increased

Prospective Case Control Evaluation Of Epidural Midazolam For Improving Pain And Ambulation After Microdiscectomy, Muhammad Shahzad Shamim, S. Ather Enam, Muhammad Zubair Tahir, Mueenullah Khan

Section of Neurosurgery

Objective: To evaluate midazolam as an epidural analgesic in patients undergoing single-level microdiscectomy.
Methods: This prospective case control study was carried out at the Aga Khan University Hospital, Karachi, from January 20 to September 20, 2007, on patients undergoing microdiscectomy. Cases (group A) received midazolam with saline, while controls (group B) received saline only, placed intra-operatively over involved nerve root. Post-operatively, patients were monitored for various variables. Data was analysed using SPSS 13.0 and groups were compared using student's t-test for continuous variables and chi square for categorical variables. P-value <0.05 was considered significant.
Results: Patients in group A ambulated earlier (p = 0.005) …

Metabolic Syndrome In Type 2 Diabetes: Comparison Of Who, Modified Atpiii & Idf Criteria, Asma Ahmed, Talha Ehsan Khan, Tahira Yasmeen, Safia Awan, Najmul Islam

Section of Diabetes, Endocrinology and Metabolism

OBJECTIVES: To determine the frequency of metabolic syndrome in type 2 diabetes according to three commonly used operational definitions {World Health Organization (WHO), National Cholesterol Education Program Adult Treatment Panel (NCEP ATP III) and International Diabetes Federation( IDF)}. To evaluate the agreement between these classifications in the Pakistani cohort.

METHODS: Data was collected retrospectively of 210 patients with type 2 diabetes visiting outpatient clinics of one of the large tertiary care hospitals at Karachi, Pakistan between June 2008 to November 2008.

RESULTS: The prevalence of metabolic syndrome was found to be 81.4% (WHO), 86.7 % (IDF) and 91.9 % (NCEP …

Overcrowded Emergency Departments: A Problem Looking For Solution., Amber Mehmood, Badar Afzal Khan, Munawar Khursheed

Department of Emergency Medicine

No abstract provided.

Cardiopulmonary Resuscitation: Is The Emergency Department Visit An Opportunity To Recommend Education? (Poster), Marna R. Greenberg Do, Mph, Facep, Gavin C. Barr Jr. Md, Jon D. Willardson Do, Nicholas M. Dowling Do, Jennifer L. Sears Do, Valerie Rupp Rn, Bsn, Kimberly Hamilton Ba, Kevin Weaver Do

Department of Emergency Medicine

No abstract provided.

A Prospective Observational Study Of Mycophenolate Mofetil Treatment In Progressive Diffuse Cutaneous Systemic Sclerosis Of Recent Onset., Fabian A. Mendoza, Md, Sarah J. Nagle, Jason B. Lee, Md, Sergio A. Jimenez

Jefferson Institute of Molecular Medicine Papers and Presentations

OBJECTIVE: A prospective observational study of mycophenolate mofetil (MMF) treatment in patients with diffuse progressive cutaneous systemic sclerosis (SSc) of recent onset.

METHODS: Twenty-five previously untreated consecutive patients with recent-onset (< 24 mo) diffuse progressive cutaneous SSc received MMF as the only disease-modifying therapy. Modified Rodnan skin score (mRSS) and affected body surface area (BSA) were compared from initiation of MMF to study end. Pulmonary function tests performed at the same institution before therapy and at study end were available in 15 patients. Histopathology and real-time PCR assessment of fibrosis-related gene expression were performed before and after treatment in skin biopsies from 3 patients.

RESULTS: At 18.2 ± 8.73 months of MMF therapy (median 2000 mg/day) the mRSS decreased from 24.56 ± 8.62 to 14.52 ± 10.9 (p = 0.0004) and the affected BSA from 36% ± 16% to 14% ± 13.3% (p = 0.00001). Pulmonary function tests remained stable from initiation of MMF to the end of the study. Skin histopathology showed a remarkable reduction in accumulation of fibrotic tissue. Real-time PCR …

Community-Based Partnerships For Improving Chronic Disease Management, James Plumb, Laura Carson Weinsten, Rickie Brawer, Kevin Scott

Department of Family & Community Medicine Faculty Papers

With the growing burden of chronic disease, the medical and public health communities are re-examining their roles and opportunities for more effective prevention and clinical interventions. The potential to significantly improve chronic disease prevention and have an impact on morbidity and mortality from chronic conditions is enhanced by adopting strategies that incorporate a social ecology perspective, realigning the patient-physician relationship, integrating population health perspectives into the Chronic Care Model, and effectively engaging communities using established principles of community engagement.

Copyright © 2012 Elsevier Inc. All rights reserved.

Oncolog, Volume 57, Number 06, June 2012, Sarah Bronson, Stephanie Deming

OncoLog MD Anderson's Report to Physicians (All issues) Archives

• Minimally Invasive Component Separation Reduces Wound-Healing Complications from Abdominal Surgery: Component separation, a major advance in abdominal wall reconstruction, can prevent hernia recurrence in many patients
• Bevacizumab for Glioblastoma: Symptom Relief Proven, Overall Survival Benefit Being Studied-The antiangiogenic agent bevacizumab has been shown to prolong progression-free survival and ameliorate symptoms in patients with recurrent glioblastoma. However, it remains unknown whether bevacizumab should be used to treat newly diagnosed glioblastoma and whether bevacizumab prolongs the overall survival of patients with glioblastoma
• HOUSE CALL: Hospice Care- Patients and families have choices for care and comfort
• INBRIEF: Panobinostat Elicits Durable Response in Hodgkin …

Revision Total Knee Arthroplasty: Infection Should Be Ruled Out In All Cases, Mohammad R. Rasouli, Armin Aalami Harandi, Bahar Adeli, James J. Purtill, Javad Parvizi

Rothman Institute Papers

We hypothesized that some aseptic revision total knee arthroplasty failures are indeed caused by occult infection. This prospective study recruited 65 patients undergoing revision total knee arthroplasty. The mean follow-up period was 19 months. Collected synovial fluid was analyzed by Ibis T5000 biosensor (Abbott Molecular Inc, Ill; a multiplex polymerase chain reaction technology). Cases were considered as infected or aseptic based on the surgeon's judgment and Ibis findings. Based on Ibis biosensor, 17 aseptic cases were indeed infected that had been missed. Of these 17 cases, 2 developed infection after the index revision. A considerable number of so-called aseptic failures …

Incidental Finding Of A Giant Aortic Root Aneurysm And Its Repair, Saulat H. Fatimi, Roheena Zainab Panni, Awais Ashfaq

Section of Cardiothoracic Surgery

The prevalence of aortic aneurysms is 3-4% in individuals more than 65 years. Age and haemodynamic factors play an important role in the development of aortic aneurysms. Most patients with aortic aneurysms are asymptomatic at the time of discovery. Thoracic aneurysms are usually found incidentally after chest radiographs or other imaging studies. The most common complications of thoracic aortic aneurysms are acute rupture or dissection. Some patients present with tender or painful nonruptured aneurysms. Patients are thought to be at increased risk for rupture and should undergo surgical repair on an emergent basis We document a case of a 66-year-old …

Radiation Oncology At Thomas Jefferson University: A Specialty Emerges As A Department Evolves, Eric Gressen Md, Ben W. Corn Md, Adam P Dicker

Department of Radiation Oncology Faculty Papers

Jefferson Radiation Oncology has maintained over fifty years of excellence led by only four chairmen. Dr Kramer after receiving his medical training inLondonled the department into the modern megavoltage era while creating the first independent academic radiation oncology department in the country. He was well-respected nationally as a leader and advocate for the specialty and he mastered the execution of progressive ideas that have raised the standard for the profession. The creation of the Radiation Therapy Oncology Group (RTOG) was critical in developing trials to expand the management and treatment of malignancy. The Patterns of Care Study (PCS) educated the …

Resolution Of Bilateral Ptosis After Reduction Of Unilaterally Elevated Intraocular Pressure In A Child With Axenfeld-Reiger Spectrum Disorder., Ketki Soin, Alex V. Levin

Wills Eye Hospital Papers

We report a 9-month-old boy with bilateral pseudoptosis associated with elevated IOP. The patient had previously undergone bilateral trabeculectomies and Ahmed tube placement and right cataract extraction and penetrating keratoplasty. At presentation, the right eye IOP was 24 mm Hg and the left eye IOP was 32 mm Hg. Approximately 2 weeks after dorzolamide was added to the treatment regimen for the left eye, the mother reported that the ptosis had resolved. We suggest several explanations for the resolution of the ptosis.

Perspectives On: Sgp Symposium On Mitochondrial Physiology And Medicine: Mitochondria Take Center Stage., Shey-Shing Sheu, Robert T Dirksen, Edward N Pugh

Center for Translational Medicine Faculty Papers

No abstract provided.

Effect Of Oxidative Stress On Protein Tyrosine Phosphatase 1b In Scleroderma Dermal Fibroblasts., Pei-Suen Tsou, Nadine N. Talia, Adam J. Pinney, Ann Kendzicky, Sonsoles Piera-Velazquez, Sergio A. Jimenez, James R. Seibold, Kristine Phillips, Alisa E Koch

Department of Dermatology and Cutaneous Biology Faculty Papers

OBJECTIVE: Platelet-derived growth factor (PDGF) and its receptor, PDGFR, promote fibrosis in systemic sclerosis (SSc; scleroderma) dermal fibroblasts, and such cells in scleroderma skin lesions produce excessive reactive oxygen species (ROS). PDGFR is phosphorylated upon PDGF stimulation, and is dephosphorylated by protein tyrosine phosphatases (PTPs), including PTP1B. This study was undertaken to determine whether the thiol-sensitive PTP1B is affected by ROS in SSc dermal fibroblasts, thereby enhancing the phosphorylation of PDGFR and synthesis of type I collagen. This study also sought to investigate the effect of a thiol antioxidant, N-acetylcysteine (NAC), in SSc.

METHODS: Fibroblasts were isolated from the skin …

Sinonasal Teratocarcinosarcoma, Zainul Abedeen Sobani, Shabbir Akhtar, Montasir Junaid, Iftikhar Salahuddin

Section of Otolaryngology, Head & Neck Surgery

Teratocarcinosarcoma is a rare, morphologically heterogeneous and highly malignant neoplasm. It is characterized by the presence of benign and malignant epithelial, mesenchymal and neural components. The carcinoma may be either squamous or adenocarcinoma and the mesenchymal component may manifest spindle, smooth, skeletal muscle, cartilage and bone features. Because of their infrequency, these lesions are often misdiagnosed, leading to management difficulties. In this case report we have shared our experience with sinonasal teratocarcinosarcoma in a 23 year old female and performed a brief review of literature.

Nociceptive Neuropeptide Increases And Periorbital Allodynia In A Model Of Traumatic Brain Injury., Melanie B. Elliott, Michael L. Oshinsky, Peter S. Amenta, Olatilewa Awe, Jack I. Jallo

Department of Neurosurgery Faculty Papers

OBJECTIVE: This study tests the hypothesis that injury to the somatosensory cortex is associated with periorbital allodynia and increases in nociceptive neuropeptides in the brainstem in a mouse model of controlled cortical impact (CCI) injury.

METHODS: Male C57BL/6 mice received either CCI or craniotomy-only followed by weekly periorbital von Frey (mechanical) sensory testing for up to 28 days post-injury. Mice receiving an incision only and naïve mice were included as control groups. Changes in calcitonin gene-related peptide (CGRP) and substance P (SP) within the brainstem were determined using enzyme-linked immunosorbent assay and immunohistochemistry, respectively. Activation of ionized calcium-binding adaptor molecule-1-labeled …

The Clinical, Endoscopic And Histological Spectrum Of The Solitary Rectal Ulcer Syndrome: A Single-Center Experience Of 116 Cases, Shahab Abid, Ali Khawaja, Salima Ahmed Bhimani, Zubair Ahmad, Saeed Hamid, Wasim Jafri

Section of Gastroenterology

Background

Solitary rectal ulcer syndrome (SRUS) is an uncommon although benign defecation disorder. The aim of this study was to evaluate the variable endoscopic manifestations of SRUS and its association with other diseases.

Methods

All the patients diagnosed with SRUS histologically from January 1990 to February 2011 at The Aga Khan University, Karachi were included in the study. The medical records were reviewed retrospectively to evaluate the clinical spectrum of the patients along with the endoscopic and histological findings.

Results

A total of 116 patients were evaluated. The mean age was 37.4 ± 16.6 (range: 13–80) years, 61 (53%) of …

Management Of Hyperglycemia In Type 2 Diabetes: A Patient-Centered Approach: Position Statement Of The American Diabetes Association (Ada) And The European Association For The Study Of Diabetes (Easd)., Silvio E Inzucchi, Richard M Bergenstal, John B Buse, Michaela Diamant, Ele Ferrannini, Michael Nauck, Anne L Peters, Apostolos Tsapas, Richard Wender, David R. Matthews

Department of Family & Community Medicine Faculty Papers

No abstract provided.

Periprosthetic Joint Infection: Are Patients With Multiple Prosthetic Joints At Risk?, S Mehdi Jafari, David S Casper, Camilo Restrepo, Benjamin Zmistowski, Javad Parvizi, Peter F Sharkey

Rothman Institute Papers

Patients who present with a periprosthetic joint infection in a single joint may have multiple prosthetic joints. The risk of these patients developing a subsequent infection in another prosthetic joint is unknown. Our purposes were (1) to identify the risk of developing a subsequent infection in another prosthetic joint and (2) to describe the time span and organism profile to the second prosthetic infection. We retrospectively identified 55 patients with periprosthetic joint infection who had another prosthetic joint in place at the time of presentation. Of the 55 patients, 11 (20%) developed a periprosthetic joint infection in a second joint. …

Macular Sensitivity And Fixation Patterns In Normal Eyes And Eyes With Uveitis With And Without Macular Edema., Yasir J. Sepah, Elham Hatef, Elizabeth Colantuoni, Jianmin Wang, Mathew Shulman, Fatima I. Adhi, Abeer Akhtar, Mohamed Ibrahim, Afsheen Khwaja, Roomasa Channa, Raafay Sophie, Millena Bittencourt, Jangwon Heo, Diana V Do, Quan Dong Nguyen

Journal Articles: Ophthalmology

PURPOSE: This study aims to investigate the relationship between macular sensitivity and thickness in eyes with uveitic macular edema (UME).

DESIGN: This study is a prospective observational case series.

METHODS: The setting for this study was clinical practice. The study included 59 (28 with UME, 31 without UME) eyes of 26 patients with uveitis and 19 eyes of 10 normal subjects. The procedure followed was fundus-related perimetry and retinal thickness map with an automated fundus perimetry/tomography system. Main outcome measures included quantification of macular sensitivity, fixation pattern, and relationship between macular sensitivity and thickness.

RESULTS: Fixation stability revealed that 56 …

Does The Load-Sharing Classification Predict Ligamentous Injury, Neurological Injury, And The Need For Surgery In Patients With Thoracolumbar Burst Fractures?: Clinical Article., Kristen Radcliff, Christopher K Kepler, Todd A Rubin, Motasem Maaieh, Alan S Hilibrand, James Harrop, Jeffrey A Rihn, Todd J Albert, Alexander R Vaccaro

Department of Orthopaedic Surgery Faculty Papers

OBJECT: The load-sharing score (LSS) of vertebral body comminution is predictive of results after short-segment posterior instrumentation of thoracolumbar burst fractures. Some authors have posited that an LSS > 6 is predictive of neurological injury, ligamentous injury, and the need for surgical intervention. However, the authors of the present study hypothesized that the LSS does not predict ligamentous or neurological injury.

METHODS: The prospectively collected spinal cord injury database from a single institution was queried for thoracolumbar burst fractures. Study inclusion criteria were acute (< 24 hours) burst fractures between T-10 and L-2 with preoperative CT and MRI. Flexion-distraction injuries and pathological fractures were excluded. Four experienced spine surgeons determined the LSS and posterior ligamentous complex (PLC) integrity. Neurological status was assessed from a review of the medical records.

RESULTS: Forty-four patients were included in the study. There were 4 patients for whom all observers …

Composition Of The Adult Digestive Tract Bacterial Microbiome Based On Seven Mouth Surfaces, Tonsils, Throat And Stool Samples, Nicola Segata, Susan Kinder Haake, Peter Mannon, Katherine P. Lemon, Levi Waldron, Dirk Gevers, Curtis Huttenhower, Jacques Izard

Department of Food Science and Technology: Faculty Publications

Background: To understand the relationship between our bacterial microbiome and health, it is essential to define the microbiome in the absence of disease. The digestive tract includes diverse habitats and hosts the human body’s greatest bacterial density. We describe the bacterial community composition of ten digestive tract sites from more than 200 normal adults enrolled in the Human Microbiome Project, and metagenomically determined metabolic potentials of four representative sites.

Results: The microbiota of these diverse habitats formed four groups based on similar community compositions: buccal mucosa, keratinized gingiva, hard palate; saliva, tongue, tonsils, throat; sub- and supra-gingival plaques; …

Metabolic Reconstruction For Metagenomic Data And Its Application To The Human Microbiome, Sahar Abubucker, Nicola Segata, Johannes Goll, Alyxandria M. Schubert, Jacques Izard, Brandi L. Cantarel, Beltran Rodriguez-Mueller, Jeremy Zucker, Mathangi Thiagarajan, Bernard Henrissat, Owen White, Scott T. Scott, Barbara Methé, Patrick D. Schloss, Dirk Gever, Makedonka Mitreva, Curtis Huttenhower

Department of Food Science and Technology: Faculty Publications

Microbial communities carry out the majority of the biochemical activity on the planet, and they play integral roles in processes including metabolism and immune homeostasis in the human microbiome. Shotgun sequencing of such communities’ metagenomes provides information complementary to organismal abundances from taxonomic markers, but the resulting data typically comprise short reads from hundreds of different organisms and are at best challenging to assemble comparably to single-organism genomes. Here, we describe an alternative approach to infer the functional and metabolic potential of a microbial community metagenome. We determined the gene families and pathways present or absent within a community, as …

The Quest For The Perfect Prostate Biopsy Continues, Leonard G. Gomella

Kimmel Cancer Center Faculty Papers

No abstract provided.

Clinical Significance Of Maternal Anti-Cw Antibodies: A Review Of Three Cases And Literature, Shabneez Malik, Bushra Moiz

Department of Pathology and Laboratory Medicine

Anti Cw antibody is a low frequency immunoglobulin (IgG) against red cell antigen- Cw. It is clinically significant and may cause haemolytic disease of the newborn. Due to its low frequency, it is not included in routine antenatal antibody screening panel. The incidence of Anti Cw antibodies has not been reported in our population. Here, we describe the clinical and laboratory spectra of three pregnant women having low titres anti Cw antibodies. Fortunately, haemolytic disease of the newborn was not encountered in any case.

Diffusion Of The Egfr Assay: The Underutilization And The Urban/Rural Divide, Julie Ann Lynch

Graduate Doctoral Dissertations

Purpose - The EGFR assay is a molecular diagnostic test which identifies a targetable mutation in lung tumors. Guidelines call for EGFR testing for non-small cell lung cancer patients to direct first line treatment. We explored institutional and regional factors predicting the likelihood acute care hospitals ordered the assay. Methods: This was a retrospective study which analyzed US acute care hospitals (n=4780). We linked proprietary industry data for orders of the EGFR assay to public datasets that provided hospital and regional characteristics. We conducted logistic regression to identify significant characteristics that predict likelihood a hospital ordered the assay. Results - …