Medicine and Health Sciences Commons^™

High-Resolution Physical Map For Chromosome 16q12.1-Q13, The Blau Syndrome Locus., Xiaoju Wang, Helena Kuivaniemi, Gina Bonavita, Charlene J Williams, Gerard Tromp

Charlene Williams

BACKGROUND: The Blau syndrome (MIM 186580), an autosomal dominant granulomatous disease, was previously mapped to chromosome 16p12-q21. However, inconsistent physical maps of the region and consequently an unknown order of microsatellite markers, hampered us from further refining the genetic locus for the Blau syndrome. To address this problem, we constructed our own high-resolution physical map for the Blau susceptibility region. RESULTS: We generated a high-resolution physical map that provides more than 90% coverage of a refined Blau susceptibility region. The map consists of four contigs of sequence tagged site-based bacterial artificial chromosomes with a total of 124 bacterial artificial chromosomes, …

P5l Mutation In Ank Results In An Increase In Extracellular Inorganic Pyrophosphate During Proliferation And Nonmineralizing Hypertrophy In Stably Transduced Atdc5 Cells, Raihana Zaka, David Stokes, Arnold S. Dion, Anna Kusnierz, Fei Han, Charlene J. Williams

Charlene Williams

Ank is a multipass transmembrane protein that regulates the cellular transport of inorganic pyrophosphate. In the progressive ankylosis (ank) mouse, a premature termination mutation at glutamic acid 440 results in a phenotype characterized by inappropriate deposition of basic calcium phosphate crystals in skeletal tissues. Mutations in the amino terminus of ANKH, the human homolog of Ank, result in familial calcium pyrophosphate dihydrate deposition disease. It has been hypothesized that these mutations result in a gain-of-function with respect to the elaboration of extracellular inorganic pyrophosphate. To explore this issue in a mineralization-competent system, we stably transduced ATDC5 cells with wild-type Ank …

Epilepsy, Hippocampal Sclerosis And Febrile Seizures Linked By Common Genetic Variation Around Scn1a., Dalia Kasperaviciute, Claudia B Catarino, Mar Matarin, Costin Leu, Jan Novy, Anna Tostevin, Bárbara Leal, Ellen V S Hessel, Kerstin Hallmann, Michael S Hildebrand, Hans-Henrik M Dahl, Mina Ryten, Daniah Trabzuni, Adaikalavan Ramasamy, Saud Alhusaini, Colin P Doherty, Thomas Dorn, Jörg Hansen, Günter Krämer, Bernhard J Steinhoff, Dominik Zumsteg, Susan Duncan, Reetta K Kälviäinen, Kai J Eriksson, Anne-Mari Kantanen, Massimo Pandolfo, Ursula Gruber-Sedlmayr, Kurt Schlachter, Eva M Reinthaler, Elisabeth Stogmann, Fritz Zimprich, Emilie Théâtre, Colin Smith, Terence J O'Brien, K Meng Tan, Slave Petrovski, Angela Robbiano, Roberta Paravidino, Federico Zara, Pasquale Striano, Michael R Sperling, Russell J Buono, Hakon Hakonarson, João Chaves, Paulo P Costa, Berta M Silva, António M Da Silva, Pierre N E De Graan, Bobby P C Koeleman, Albert Becker, Susanne Schoch, Marec Von Lehe, Philipp S Reif, Felix Rosenow, Felicitas Becker, Yvonne Weber, Holger Lerche, Karl Rössler, Michael Buchfelder, Hajo M Hamer, Katja Kobow, Roland Coras, Ingmar Blumcke, Ingrid E Scheffer, Samuel F Berkovic, Michael E. Weale, Uk Brain Expression Consortium, Norman Delanty, Chantal Depondt, Gianpiero L Cavalleri, Wolfram S Kunz, Sanjay M Sisodiya

Russell Buono

Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treatment. The cause of mesial temporal lobe epilepsy with hippocampal sclerosis is unknown, but there is an association with childhood febrile seizures. Several rarer epilepsies featuring febrile seizures are caused by mutations in SCN1A, which encodes a brain-expressed sodium channel subunit targeted by many anti-epileptic drugs. We undertook a genome-wide association …

Ten-Year (2001-2011) Trends In The Incidence Rates And Short-Term Outcomes Of Early Versus Late Onset Cardiogenic Shock After Hospitalization For Acute Myocardial Infarction, Hoa L. Nguyen, Jorge L. Yarzebski, Darleen M. Lessard, Joel M. Gore, David D. Mcmanus, Robert J. Goldberg

Jorge L. Yarzebski

BACKGROUND: Cardiogenic shock (CS) is a serious complication of acute myocardial infarction, and the time of onset of CS has a potential role in influencing its prognosis. Limited contemporary data exist on this complication, however, especially from a population-based perspective. Our study objectives were to describe decade-long trends in the incidence, in-hospital mortality, and factors associated with the development of CS in 3 temporal contexts: (1) before hospital arrival for acute myocardial infarction (prehospital CS); (2) within 24 hours of hospitalization (early CS); and (3) > /=24 hours after hospitalization (late CS). METHODS AND RESULTS: The study population consisted of 5782 …

Survival Advantage Of Both Human Hepatocyte Xenografts And Genome-Edited Hepatocytes For Treatment Of Alpha-1 Antitrypsin Deficiency, Florie Borel, Qiushi Tang, Gwladys Gernoux, Cynthia Greer, Ziqiong Wang, Adi Barzel, Mark A. Kay, Leonard D. Shultz, Dale L. Greiner, Terence R. Flotte, Michael A. Brehm, Christian Mueller

Christian Mueller

Hepatocytes represent an important target for gene therapy and editing of single-gene disorders. In alpha-1 antitrypsin (AAT) deficiency, one missense mutation results in impaired secretion of AAT. In most patients, lung damage occurs due to a lack of AAT-mediated protection of lung elastin from neutrophil elastase. In some patients, accumulation of misfolded PiZ mutant AAT protein triggers hepatocyte injury, leading to inflammation and cirrhosis. We hypothesized that correcting the Z mutant defect in hepatocytes would confer a selective advantage for repopulation of hepatocytes within an intact liver. A human PiZ allele was crossed onto an immune-deficient (NSG) strain to create …

Using Creative Art To Explore Psychoanalytic Process, Robert Irwin Wolf

Robert Irwin Wolf

No abstract provided.

Niemann-Pick Type C Disease, Sameh Morkous Md, Faan

Sameh Morkous, MD, FAAP, FAAN

No abstract provided.

Gallic Acid, A Phenolic Compound, Exerts Anti-Angiogenic Effects Via The Pten/Akt/Hif-1Α/Vegf Signaling Pathway In Ovarian Cancer Cells, Zhiping He, Allen Y. Chen, Yon Rojanasakul, Gary O. Rankin, Yi Charlie Chen

Gary O. Rankin

Gallic acid (GA), a polyphenol, is widely found in numerous fruits and vegetables, particularly in hickory nuts. In the present study, we found that gallic acid, a natural phenolic compound isolated from fruits and vegetables, had a more potent growth inhibitory effect on two ovarian cancer cell lines, OVCAR-3 and A2780/CP70, than the effect on a normal ovarian cell line, IOSE-364. These results demonstrated that GA selectively inhibits the growth of cancer cells. Gene expression was examined by ELISA and western blot analysis, and gene pathways were examined by luciferase assay. It was found that GA inhibited VEGF secretion and …

Myricetin Inhibits Proliferation Of Cisplatin-Resistant Cancer Cells Through A P53-Dependent Apoptotic Pathway, Haizhi Huang, Allen Y. Chen, Xingqian Ye, Bingyun Li, Yon Rojanasakul, Gary O. Rankin, Yi Charlie Chen

Gary O. Rankin

Cisplatin is a commonly used drug for cancer treatment by crosslinking DNA, leading to apoptosis of cancer cells, resistance to cisplatin treatment often occurs, leading to relapse. Therefore, there is a need for the development of more effective treatment strategies that can overcome chemoresistance. Myricetin is a flavonoid from fruits and vegetables, showing anticancer activity in various cancer cells. In this study, we found myricetin exhibited greater cytotoxicity than cisplatin in two cisplatin-resistant ovarian cancer cell lines, OVCAR-3 and A2780/CP70, and it was less cytotoxic to the normal ovarian cell line IOSE-364. Myricetin selectively induced apoptosis in both cisplatin-resistant cancer …

Cerium Oxide Nanoparticle Treatment Ameliorates Peritonitis-Induced Diaphragm Dysfunction, Shinichi Asano, Ravikumar Arvapalli, Nandini D. Manne, Mani Maheshwari, Bing Ma, Kevin M. Rice, Vellaisamy Selvaraj, Eric Blough

Nandini Manne

The severe inflammation observed during sepsis is thought to cause diaphragm dysfunction, which is associated with poor patient prognosis. Cerium oxide (CeO₂) nanoparticles have been posited to exhibit anti-inflammatory and antioxidative activities suggesting that these particles may be of potential use for the treatment of inflammatory disorders. To investigate this possibility, Sprague Dawley rats were randomly assigned to the following groups: sham control, CeO₂ nanoparticle treatment only (0.5 mg/kg iv), sepsis, and sepsis+CeO₂ nanoparticles. Sepsis was induced by the introduction of cecal material (600 mg/kg) directly into the peritoneal cavity. Nanoparticle treatment decreased sepsis-associated impairments in …

Cerium Oxide Nanoparticle Treatment Ameliorates Peritonitis-Induced Diaphragm Dysfunction, Shinichi Asano, Ravikumar Arvapalli, Nandini D. Manne, Mani Maheshwari, Bing Ma, Kevin M. Rice, Vellaisamy Selvaraj, Eric Blough

Kevin M Rice

The severe inflammation observed during sepsis is thought to cause diaphragm dysfunction, which is associated with poor patient prognosis. Cerium oxide (CeO2) nanoparticles have been posited to exhibit anti-inflammatory and antioxidative activities suggesting that these particles may be of potential use for the treatment of inflammatory disorders. To investigate this possibility, Sprague Dawley rats were randomly assigned to the following groups: sham control, CeO2 nanoparticle treatment only (0.5 mg/kg iv), sepsis, and sepsis+CeO2 nanoparticles. Sepsis was induced by the introduction of cecal material (600 mg/kg) directly into the peritoneal cavity. Nanoparticle treatment decreased sepsis-associated impairments in diaphragmatic contractile (Po) function …

Cerium Oxide Nanoparticle Treatment Ameliorates Peritonitis-Induced Diaphragm Dysfunction, Shinichi Asano, Ravikumar Arvapalli, Nandini D. Manne, Mani Maheshwari, Bing Ma, Kevin M. Rice, Vellaisamy Selvaraj, Eric Blough

Eric Blough

The severe inflammation observed during sepsis is thought to cause diaphragm dysfunction, which is associated with poor patient prognosis. Cerium oxide (CeO₂) nanoparticles have been posited to exhibit anti-inflammatory and antioxidative activities suggesting that these particles may be of potential use for the treatment of inflammatory disorders. To investigate this possibility, Sprague Dawley rats were randomly assigned to the following groups: sham control, CeO₂ nanoparticle treatment only (0.5 mg/kg iv), sepsis, and sepsis+CeO₂ nanoparticles. Sepsis was induced by the introduction of cecal material (600 mg/kg) directly into the peritoneal cavity. Nanoparticle treatment decreased sepsis-associated impairments in …

Techniques To Improve Patient Flow In A Pediatric Street Medicine Clinic., Richelle Reinhart, Carly Crowder, Nikos Karakashian, Ajay Koti Ms, Kathleen Mcfadden, Marna R. Greenberg Do, Mph, Facep

Marna R Greenberg DO, MPH, FACEP

No abstract provided.

Teaching With Cultural Competence Requires Gender Sensitivity., Marna R. Greenberg Do, Mph, Facep, Jessica Pierog Do

Marna R Greenberg DO, MPH, FACEP

No abstract provided.

Lack Of Gender Differences In Prevalence Of Homelessness In The Emergency Department (Poster)., Brett Feldman Mspas, Pa-C, Alexandra M. Craen Ba, Osman Z. Abbasi Do, Zachary M. Dillon Md, Kenneth Dzike Md, Joshua Enyart Do, Julie A. Fritzges Do, Jessica L. Glaubman Do, Emily A. Kiernan Do, Nathaniel M. Yoder Do, Timothy J. Friel Md, Stephen W. Dusza Drph, Marna R. Greenberg Do, Mph, Facep

Marna R Greenberg DO, MPH, FACEP

No abstract provided.

Vulnerable Elder Survey As A Predictor Of Falls In The Emergency Medicine Setting., Rebecca Brown Ms2, Marna R. Greenberg Do, Mph, Facep

Marna R Greenberg DO, MPH, FACEP

No abstract provided.

Development Of A Health Care Systems Curriculum., Zachary Pruitt, Rahul Mhaskar, Bryan G. Kane Md, Robert D. Barraco Md, Mph, Deborah J Dewaay, Alexander M. Rosenau Do, Kristin A. Bresnan Md, Marna R. Greenberg Do, Mph, Facep

Marna R Greenberg DO, MPH, FACEP

Background: There is currently no gold standard for delivery of systems-based practice in medical education, and it is challenging to incorporate into medical education. Health systems competence requires physicians to understand patient care within the broader health care system and is vital to improving the quality of care clinicians provide. We describe a health systems curriculum that utilizes problem-based learning across 4 years of systems-based practice medical education at a single institution.

Methods: This case study describes the application of a problem-based learning approach to system-based practice medical education. A series of behavioral statements, called entrustable professional activities, was created …

Evaluating The Effectiveness Of The 30-Second Chair Stand Test As An Ed Screening Tool For Elderly Fall Risk Assessment., Adison Weseloh, Bryan G. Kane Md, Jeanne L. Jacoby Md, Robert D. Barraco Md, Mph, Tracy M Bishop Do, Kyli Krape Do, Stephanie Merrick Md, Michael Wagner, Deirdre Warner Do, Marna R. Greenberg Do, Mph, Facep

Marna R Greenberg DO, MPH, FACEP

No abstract provided.

Identifying Demographics And Biopsychosocial Characteristics Among Emergency Youth Shelter Residents., Aleksandra Bacewicz, Elizabeth Beaty, Cristina Calogero, Carly Crowder, Ajay Koti Ms, Kathleen Mcfadden, Richelle Reinhart, Seth Vanzant, Marna R. Greenberg Do, Mph, Facep

Marna R Greenberg DO, MPH, FACEP

No abstract provided.

Gender Differences In Acute Cardiac Care: Where It's Not., Marna R. Greenberg Do, Mph, Facep

Marna R Greenberg DO, MPH, FACEP

No abstract provided.

Gender Differences In Cdc Guideline Compliance For Stis In Emergency Departments., Bryan G. Kane Md, Alexander W D Guillaume, Elizabeth M. Evans Do, Terrence E. Goyke Do, Jessica K. Eygnor Do, Lauren Semler Ms, Stephen W. Duza Drph, Marna R. Greenberg Do, Mph, Facep

Marna R Greenberg DO, MPH, FACEP

No abstract provided.

10-Year Outcome Of The Thoracic Endovascular Aortic Repair (Tevar) Procedure (Poster), Jacob Fink, Youssef Zaki, Tim S. Misselbeck Md, James K. Wu Md

James K. Wu, M.D.

No abstract provided.

Comparison Of In-Line Versus Conventional Independent Continuous Renal Replacement Therapy In Extracorporeal Membrane Oxygenation Patients, Nicole Stansbury, Taryn Samet Md, Tim S. Misselbeck Md, James K. Wu Md

James K. Wu, M.D.

No abstract provided.

10-Year Outcome Of The Thoracic Endovascular Aortic Repair (Tevar) Procedure, James K. Wu Md, Tim S. Misselbeck Md, Jacob Fink, Youssef Zaki

James K. Wu, M.D.

No abstract provided.

Feasability Study To Assess Addition Of A Prophylactic Antiarrhythmic Regimen To Post-Operative Open-Heart Surgery Management., Cameron St. Hilaire, Travis Gaskill Pa-C, Sarah Dolcemascolo Pa-C, James K. Wu Md

James K. Wu, M.D.

No abstract provided.

Development Of A Health Care Systems Curriculum., Zachary Pruitt, Rahul Mhaskar, Bryan G. Kane Md, Robert D. Barraco Md, Mph, Deborah J Dewaay, Alexander M. Rosenau Do, Kristin A. Bresnan Md, Marna R. Greenberg Do, Mph, Facep

Bryan G Kane MD

Background: There is currently no gold standard for delivery of systems-based practice in medical education, and it is challenging to incorporate into medical education. Health systems competence requires physicians to understand patient care within the broader health care system and is vital to improving the quality of care clinicians provide. We describe a health systems curriculum that utilizes problem-based learning across 4 years of systems-based practice medical education at a single institution.

Methods: This case study describes the application of a problem-based learning approach to system-based practice medical education. A series of behavioral statements, called entrustable professional activities, was created …

Urinary 8-Oxo-7,8-Dihydro-2'-Deoxyguanosine Analysis By An Improved Elisa: Does Assay Standardization Reduce Inter-Laboratory Variability?, Pavel Rossner Jr., Hilmi Orhan, Regina M. Santella, Kazuo Sakai, Gudrun Koppen, Antonin Ambroz, Andrea Rossnerova, Radim J. Sram, Miroslav Ciganek, Jiri Neca, Marcus Cooke

Dr. Marcus S. Cooke PhD, FRCPath

ELISA is commonly used for the detection of urinary 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodG), a marker of whole body oxidative stress. However, the method has been criticized for high inter-laboratory variability and poor agreement with chromatographic techniques. We performed an inter-laboratory comparison of 8-oxodG assessed in 30 urine samples and a urine spiked with four different concentrations of 8-oxodG by ELISA using standardized experimental conditions, including: sample pre-treatment with solid-phase extraction (SPE), performing analysis using a commercial kit from a single manufacturer and strict temperature control during the assay. We further compared the ELISA results with high-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) and …

Concurrent Beneficial (Vitamin D Production) And Hazardous (Cutaneous Dna Damage) Impact Of Repeated Low-Level Summer Sunlight Exposures, S. J. Felton, Marcus Cooke, R. Kift, J. L. Berry, A. R. Webb, P.M.W. Lam, F.R. De Gruijl, A. Vail, L. E. Rhodes

Dr. Marcus S. Cooke PhD, FRCPath

No abstract provided.

Nucleotide Excision Repair Of Oxidised Genomic Dna Is Not A Source Of Urinary 8-Oxo-7,8-Dihydro-2’-Deoxyguanosine, Mark D. Evans, Vilas Misty, Rajinder Singh, Daniel Gackowski, Rafał Różalski, Agnieszka Siomek-Gorecka, David H. Phillips, Jie Zuo, Leon Mullenders, Alex Pines, Yusaku Nakabeppu, Kunihiko Sakumi, Mutsuo Sekiguchi, Teruhisa Tsuzuki, Margherita Bignami, Ryszard Oliński, Marcus Cooke

Dr. Marcus S. Cooke PhD, FRCPath

Urinary 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodGuo) is a widely measured biomarker of oxidative stress. It has been commonly assumed to be a product of DNA repair, and therefore reflective of DNA oxidation. However, the source of urinary 8-oxodGuo is not understood, although potential confounding contributions from cell turnover and diet have been ruled out. Clearly it is critical to understand the precise biological origins of this important biomarker, so that the target molecule that is oxidised can be identified, and the significance of its excretion can be interpreted fully. In the present study we aimed to assess the contributions of nucleotide excision repair …

European Contribution To The Study Of Ros: A Summary Of The Findings And Prospects For The Future From The Cost Action Bm1203 (Eu-Ros), Marcus Cooke

Dr. Marcus S. Cooke PhD, FRCPath

The European Cooperation in Science and Technology (COST) provides an ideal framework to establish multi-disciplinary research networks. COST Action BM1203 (EU-ROS) represents a consortium of researchers from different disciplines who are dedicated to providing new insights and tools for better understanding redox biology and medicine and, in the long run, to finding new therapeutic strategies to target dysregulated redox processes in various diseases. This report highlights the major achievements of EU-ROS as well as research updates and new perspectives arising from its members. The EU-ROS consortium comprised more than 140 active members who worked together for four years on the …