Medical Specialties Commons^™

Clinical And Genomic Heterogeneity Of Diamond Blackfan Anemia In The Russian Federation, N. S. Smetanina, I. V. Mersiyanova, M. A. Kurnikova, G. S. Ovsyannikova, L. A. Hachatryan, V. O. Bobrynina, M. A. Maschan, G. A. Novichkova, J. M. Lipton, A. A. Maschan

Journal Articles

BackgroundDiamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous ribosomopathy and inherited bone marrow failure syndrome characterized by anemia, reticulocytopenia, and decreased erythroid precursors in the bone marrow with an increased risk of malignancy and, in approximately 50%, physical abnormalities. MethodsWe retrospectively analyzed clinical data from 77 patients with DBA born in the Russian Federation from 1993 to 2014. In 74 families there was one clinically affected individual; in only three instances a multiplex family was identified. Genomic DNA from 57 DBA patients and their first-degree relatives was sequenced for mutations in RPS19, RPS10, RPS24, RPS26, RPS7, RPS17, RPL5, …

Dissecting Allele Architecture Of Early Onset Ibd Using High-Density Genotyping, D. J. Cutler, M. E. Zwick, D. T. Okou, S. Prahalad, T. Walters, S. L. Guthery, M. Dubinsky, R. Baldassano, J. Markowitz, S. Kugathasan, +24 Additional Authors

Journal Articles

BACKGROUND: The inflammatory bowel diseases (IBD) are common, complex disorders in which genetic and environmental factors are believed to interact leading to chronic inflammatory responses against the gut microbiota. Earlier genetic studies performed in mostly adult population of European descent identified 163 loci affecting IBD risk, but most have relatively modest effect sizes, and altogether explain only ~20% of the genetic susceptibility. Pediatric onset represents about 25% of overall incident cases in IBD, characterized by distinct disease physiology, course and risks. The goal of this study is to compare the allelic architecture of early onset IBD with adult onset in …

The Impact Of Disease Duration On Quality Of Life In Children With Nephrotic Syndrome: A Midwest Pediatric Nephrology Consortium Study, D. T. Selewski, J. P. Troost, S. F. Massengill, R. A. Gbadegesin, L. A. Greenbaum, I. F. Shatat, Y. Cai, G. Kapur, C. B. Sethna, D. S. Gipson, +13 Additional Authors

Journal Articles

BACKGROUND: The Patient Reported Outcomes Measurement Information System (PROMIS) II is a prospective study that evaluates patient reported outcomes in pediatric chronic diseases as a measure of health-related quality of life (HRQOL). We have evaluated the influence of disease duration on HRQOL and, for the first time, compared the findings of the PROMIS measures to those of the PedsQL 4.0 Generic Scales (PedsQL) from the PROMIS II nephrotic syndrome (NS) longitudinal cohort. METHODS: This was a prospective study in which 127 children (age range 8-17 years) with active NS from 14 centers were enrolled. Children with active NS defined as …

Mitochondrial Dysfunction In Peripheral Blood Mononuclear Cells In Pediatric Septic Shock, S. L. Weiss, M. A. Selak, F. Tuluc, J. Perales Villarroel, V. M. Nadkarni, C. S. Deutschman, L. B. Becker

Journal Articles

OBJECTIVES: Mitochondrial dysfunction in peripheral blood mononuclear cells has been linked to immune dysregulation and organ failure in adult sepsis, but pediatric data are limited. We hypothesized that pediatric septic shock patients exhibit mitochondrial dysfunction within peripheral blood mononuclear cells which in turn correlates with global organ injury. DESIGN: Prospective observational study. SETTING: Academic PICU. PATIENTS: Thirteen pediatric patients with septic shock and greater than or equal to two organ failures and 11 PICU controls without sepsis or organ failure. INTERVENTIONS: Ex vivo measurements of mitochondrial oxygen consumption and membrane potential (DeltaPsim) were performed in intact peripheral blood mononuclear cells …

Non Alcoholic Fatty Liver Disease In A Case Of Kabuki Syndrome, A. Jain, M. See

Journal Articles

No abstract provided.

Population Pharmacokinetics Of Darbepoetin Alfa In Conjunction With Hypothermia For The Treatment Of Neonatal Hypoxic-Ischemic Encephalopathy, J. K. Roberts, C. Stockmann, R. M. Ward, J. Beachy, M. C. Baserga, M. G. Spigarelli, C. M. Sherwin

Journal Articles

AIM: The aim of this study was to determine the population pharmacokinetics of darbepoetin alfa in hypothermic neonates with hypoxic-ischemic encephalopathy treated with hypothermia. METHODS: Neonates >/=36 weeks gestation andrandomized, multicenter, investigational, new drug pharmacokinetic study. Two intravenous darbepoetin alfa treatment groups were evaluated: 2 and 10 microg/kg. Serum erythropoietin concentrations were measured using an enzyme-linked immunosorbent assay. Monolix 4.3.1 was used to estimate darbepoetin alfa clearance and volume of distribution. Covariates tested included: birthweight, gestational age, postnatal age, postmenstrual age, sex, Sarnat score, and study site. RESULTS: Darbepoetin alfa pharmacokinetics were well described by a one-compartment model with exponential …

Protocolized Sedation Vs Usual Care In Pediatric Patients Mechanically Ventilated For Acute Respiratory Failure: A Randomized Clinical Trial, M. A. Curley, D. Wypij, R. S. Watson, M. J. Grant, L. A. Asaro, I. M. Cheifetz, B. L. Dodson, L. S. Franck, R. G. Gedeit, J. Schneider, +2 Additional Authors

Journal Articles

IMPORTANCE: Protocolized sedation improves clinical outcomes in critically ill adults, but its effect in children is unknown. OBJECTIVE: To determine whether critically ill children managed with a nurse-implemented, goal-directed sedation protocol experience fewer days of mechanical ventilation than patients receiving usual care. DESIGN, SETTING, AND PARTICIPANTS: Cluster randomized trial conducted in 31 US pediatric intensive care units (PICUs). A total of 2449 children (mean age, 4.7 years; range, 2 weeks to 17 years) mechanically ventilated for acute respiratory failure were enrolled in 2009-2013 and followed up until 72 hours after opioids were discontinued, 28 days, or hospital discharge. INTERVENTION: Intervention …

Safety And Efficacy Of Belimumab To Treat Systemic Lupus Erythematosus In Academic Clinical Practices, J. S. Hui-Yuen, A. Reddy, J. Taylor, X. Li, A. H. Eichenfield, L. M. Bermudez, A. J. Starr, L. F. Imundo, R. A. Furie, A. Askanase, +7 Additional Authors

Journal Articles

No abstract provided.

Use Of Serogroup B Meningococcal Vaccines In Adolescents And Young Adults: Recommendations Of The Advisory Committee On Immunization Practices, 2015, J. R. Macneil, L. Rubin, T. Folaranmi, I. R. Ortega-Sanchez, M. Patel, S. W. Martin

Journal Articles

At its June 2015 meeting, the Advisory Committee on Immunization Practices (ACIP) recommended that adolescents and young adults aged 16-23 years may be vaccinated with a serogroup B meningococcal (MenB) vaccine to provide short-term protection against most strains of serogroup B meningococcal disease. This report summarizes the deliberations of ACIP, the rationale for its decision, and recommendations for use of MenB vaccines in adolescents and young adults. Two MenB vaccines have recently been licensed by the Food and Drug Administration (FDA) for use in the United States and approved for use in persons aged 10-25 years: MenB-FHbp (Trumenba, Wyeth Pharmaceuticals, …

Neutralizing Antibodies Against West Nile Virus Identified Directly From Human B Cells By Single-Cell Analysis And Next Generation Sequencing, K. Tsioris, N. T. Gupta, A. O. Ogunniyi, R. M. Zimnisky, F. Qian, Y. Yao, X. Wang, J. N. Stern, R. Chari, J. C. Love, +8 Additional Authors

Journal Articles

West Nile virus (WNV) infection is an emerging mosquito-borne disease that can lead to severe neurological illness and currently has no available treatment or vaccine. Using microengraving, an integrated single-cell analysis method, we analyzed a cohort of subjects infected with WNV - recently infected and post-convalescent subjects - and efficiently identified four novel WNV neutralizing antibodies. We also assessed the humoral response to WNV on a single-cell and repertoire level by integrating next generation sequencing (NGS) into our analysis. The results from single-cell analysis indicate persistence of WNV-specific memory B cells and antibody-secreting cells in post-convalescent subjects. These cells exhibited …

Laminar Profile And Physiology Of The Alpha Rhythm In Primary Visual, Auditory, And Somatosensory Regions Of Neocortex, S. Haegens, A. Barczak, G. Musacchia, M. L. Lipton, A. D. Mehta, P. Lakatos, C. E. Schroeder

Journal Articles

The functional significance of the alpha rhythm is widely debated. It has been proposed that alpha reflects sensory inhibition and/or a temporal sampling or "parsing" mechanism. There is also continuing disagreement over the more fundamental questions of which cortical layers generate alpha rhythms and whether the generation of alpha is equivalent across sensory systems. To address these latter questions, we analyzed laminar profiles of local field potentials (LFPs) and concomitant multiunit activity (MUA) from macaque V1, S1, and A1 during both spontaneous activity and sensory stimulation. Current source density (CSD) analysis of laminar LFP profiles revealed alpha current generators in …

Coping With Congenital Hand Differences, L. E. Franzblau, K. C. Chung, N. Carlozzi, A. Y. T. Chin, K. W. Nellans, J. F. Waljee

Journal Articles

Background: Although functional outcomes following reconstruction for congenital hand differences are frequently described, much less is known regarding children's ability to cope with the psychosocial effects of these conditions. The authors qualitatively explored stress and coping mechanisms among children following reconstructive surgery for congenital hand differences. Methods: Forty patients and their parents participated in semistructured interviews examining children's stress related to hand functioning and appearance, emotional responses to stress, and coping strategies. Interviews were audiotaped, transcribed, and analyzed thematically. A consensus taxonomy for classifying content evolved from comparisons of coding by two reviewers. Themes expressed by participants were studied for …

A New Method For Calculating Femoral Anterior Cortex Point Location And Its Effect On Component Sizing And Placement, M. R. Mahfouz, E. E. A. Fatah, L. Bowers, G. Scuderi

Journal Articles

Variation in anterior femoral cortex morphology can cause improper component placement and alignment. When surgical inaccuracies occur, the mechanical properties of the distal femur may be altered, which could result in lower surgical success rates and an increased chance of postoperative complications. The purpose of the study is to come up with a reproducible computational algorithm to simulate what the surgeon does in the operating room. This method could help in surgical preplanning, patient-specific instruments, and implant design. From there, we evaluated (1) the angular difference between reference alignment axes; and (2) whether the location of the anterior cortex point …

Minimally Invasive Knee Arthroplasty: An Overview, A. J. Tria, G. R. Scuderi

Journal Articles

Minimally invasive surgery (MIS) for arthroplasty of the knee began with surgery for unicondylar knee arthroplasty (UKA). Partial knee replacements were designed in the 1970s and were amenable to a more limited exposure. In the 1990s Repicci popularized the MIS for UKA. Surgeons began to apply his concepts to total knee arthroplasty. Four MIS surgical techniques were developed: quadriceps sparing, mini-mid vastus, mini-subvastus, and mini-medial parapatellar. The quadriceps sparing technique is the most limited one and is also the most difficult. However, it is the least invasive and allows rapid recovery. The mini-midvastus is the most common technique because it …

Neural Circuitry And Immunity, V. Pavlov, K. J. Tracey

Journal Articles

No abstract provided.

Accuracy Of The Abc/2 Score For Intracerebral Hemorrhage: Systematic Review And Analysis Of Mistie, Clear-Ivh, And Clear Iii, A. J. Webb, N. L. Ullman, T. C. Morgan, J. Muschelli, J. Kornbluth, I. A. Awad, S. Mayo, M. Rosenblum, R. Narayan, D. F. Hanley, +14 Additional Authors

Journal Articles

BACKGROUND AND PURPOSE: The ABC/2 score estimates intracerebral hemorrhage (ICH) volume, yet validations have been limited by small samples and inappropriate outcome measures. We determined accuracy of the ABC/2 score calculated at a specialized reading center (RC-ABC) or local site (site-ABC) versus the reference-standard computed tomography-based planimetry (CTP). METHODS: In Minimally Invasive Surgery Plus Recombinant Tissue-Type Plasminogen Activator for Intracerebral Hemorrhage Evacuation-II (MISTIE-II), Clot Lysis Evaluation of Accelerated Resolution of Intraventricular Hemorrhage (CLEAR-IVH) and CLEAR-III trials. ICH volume was prospectively calculated by CTP, RC-ABC, and site-ABC. Agreement between CTP and ABC/2 was defined as an absolute difference up to 5 …

Hbsc Disease And Spontaneous Epidural Hematoma With Kernohan's Notch Phenomena, M. Yogarajah, C. C. Agu, B. Sivasambu, M. A. Mittler

Journal Articles

Spontaneous (nontraumatic) acute epidural hematoma is a rare and poorly understood complication of sickle cell disease. A 19-year-old African American male with hemoglobin SC disease (HbSC) presented with generalized body aches and was managed for acute painful crisis. During his hospital stay he developed rapid deterioration of his mental status and computed topography revealed a spontaneous massive epidural hematoma with mass effect and midline shift with Kernohan's notch phenomena for which urgent craniotomy and evacuation was done. We report the first case of HbSC disease associated with catastrophic epidural hematoma progressing to transtentorial herniation and Kernohan's notch phenomena within few …

Acute Zonal Occult Outer Retinopathy; Revisited, A. Tavallali, L. A. Yannuzzi

Journal Articles

No abstract provided.

Calreticulin Mutated Essential Thrombocythemia Presenting As Acute Coronary Syndrome, B. Nazha, G. Garcia, R. Kandov, M. Odaimi

Journal Articles

Essential thrombocythemia (ET) is a myeloproliferative neoplasm characterized by a clonal expansion of megakaryocytes. ET can result in both arterial and venous thrombosis. Involvement of the coronary arteries has been reported. Patients who harbor a CALR mutation are half as likely to suffer a thrombotic event as compared to patients with a JAK2 mutation. We report a case of CALR-mutated ET whose initial disease manifestation was a non-ST segment elevation myocardial infarction.

Antiplatelet Therapy Duration Following Bare Metal Or Drug-Eluting Coronary Stents: The Dual Antiplatelet Therapy Randomized Clinical Trial, D. J. Kereiakes, R. W. Yeh, J. M. Massaro, P. Driscoll-Shempp, I. T. Meredith, J. Ormiston, J. F. Tanguay, S. Windecker, K. N. Garratt, L. Mauri, +9 Additional Authors

Journal Articles

IMPORTANCE: Despite antirestenotic efficacy of coronary drug-eluting stents (DES) compared with bare metal stents (BMS), the relative risk of stent thrombosis and adverse cardiovascular events is unclear. Although dual antiplatelet therapy (DAPT) beyond 1 year provides ischemic event protection after DES, ischemic event risk is perceived to be less after BMS, and the appropriate duration of DAPT after BMS is unknown. OBJECTIVE: To compare (1) rates of stent thrombosis and major adverse cardiac and cerebrovascular events (MACCE; composite of death, myocardial infarction, or stroke) after 30 vs 12 months of thienopyridine in patients treated with BMS taking aspirin and (2) …

Sleep Deficiency And Deprivation Leading To Cardiovascular Disease, M. Kohansieh, A. N. Makaryus

Journal Articles

Sleep plays a vital role in an individual's mental, emotional, and physiological well-being. Not only does sleep deficiency lead to neurological and psychological disorders, but also the literature has explored the adverse effects of sleep deficiency on the cardiovascular system. Decreased quantity and quality of sleep have been linked to cardiovascular disease (CVD) risk factors, such as hypertension, obesity, diabetes, and dyslipidemia. We explore the literature correlating primary sleep deficiency and deprivation as a cause for cardiovascular disease and cite endothelial dysfunction as a common underlying mechanism.

Sleep Disorders, Obesity, Hypertension, And Cardiovascular Risk, S. I. Mcfarlane, O. Ogedegbe, A. N. Makaryus, C. Agyemang, G. Jean-Louis

Journal Articles

No abstract provided.

Pioglitazone In Early Parkinson's Disease: A Phase 2, Multicentre, Double-Blind, Randomised Trial, T. Simuni, K. Kieburtz, B. Tilley, J. J. Elm, B. Ravina, D. Babcock, M. Emborg, Andrew Feigin, R. Zweig, Parkinson Ninds Exploratory Trials, +38 Additinal Authoris

Journal Articles

Background A systematic assessment of potential disease-modifying compounds for Parkinson's disease concluded that pioglitazone could hold promise for the treatment of patients with this disease. We assessed the effect of pioglitazone on the progression of Parkinson's disease in a multicentre, double-blind, placebo-controlled, futility clinical trial. Methods Participants with the diagnosis of early Parkinson's disease on a stable regimen of 1 mg/day rasagiline or 10 mg/day selegiline were randomly assigned (1:1:1) to 15 mg/day pioglitazone, 45 mg/day pioglitazone, or placebo. Investigators were masked to the treatment assignment. Only the statistical centre and the central pharmacy knew the treatment name associated with …

Inflammatory Bowel Disease As A Risk Factor For Premature Coronary Artery Disease, P. Ruisi, J. N. Makaryus, M. Ruisi, A. N. Makaryus

Journal Articles

BACKGROUND: Crohn's disease and ulcerative colitis are both systemic chronic diseases that alter bowel physiology. The central process in inflammatory bowel disease (IBD) and the associated manifestations are the result of B-cell production of IgG autoantibodies directed against self-antigens in various organ systems including coronary endothelium. Previous studies have demonstrated significant micro-vascular endothelial dysfunction in patients with IBD compared to patients not affected by the disease. We sought to analyze the relation, if any, between IBD and the development of premature coronary artery disease (CAD). METHODS: We queried our hospital database to find IBD patients admitted to the hospital from …

Health Professions Division Catalog 2015-2016, Nova Southeastern University

Health Professions Divisions Course Catalogs and Course Descriptions

No abstract provided.

Lateralization Of Mesial Temporal Lobe Epilepsy With Chronic Ambulatory Electrocorticography, David King-Stephens, Emily Mirro, Peter B. Weber, Kenneth D. Laxer, Paul C. Van Ness, Donald C. Shields, +24 Additional Authors

Neurological Surgery Faculty Publications

Objective

Patients with suspected mesial temporal lobe (MTL) epilepsy typically undergo inpatient video–electroencephalography (EEG) monitoring with scalp and/or intracranial electrodes for 1 to 2 weeks to localize and lateralize the seizure focus or foci. Chronic ambulatory electrocorticography (ECoG) in patients with MTL epilepsy may provide additional information about seizure lateralization. This analysis describes data obtained from chronic ambulatory ECoG in patients with suspected bilateral MTL epilepsy in order to assess the time required to determine the seizure lateralization and whether this information could influence treatment decisions.

Methods

Ambulatory ECoG was reviewed in patients with suspected bilateral MTL epilepsy who were …

Epidural Steroid Injections Compared With Gabapentin For Lumbosacral Radicular Pain: Multicenter Randomized Double Blind Comparative Efficacy Study, Steven P. Cohen, Steven Hanling, Mark C. Bicket, Ronald L. White, Elias Velzi, Connie Kurihara, Zirong Zhao, Salim Hayek, Kevin B. Guthmiller, Scott R. Griffith, Vitaly Gordin, Mirinda Anderson White, Yakov Vorobeychik, Paul F. Pasquina

Neurology Faculty Publications

Objective To evaluate whether an epidural steroid injection or gabapentin is a better treatment for lumbosacral radiculopathy.

Design A multicenter randomized study conducted between 2011 and 2014. Computer generated randomization was stratified by site. Patients and evaluating physicians were blinded to treatment outcomes.

Settings Eight military, Veterans Administration, and civilian hospitals.

Participants 145 people with lumbosacral radicular pain secondary to herniated disc or spinal stenosis for less than four years in duration and in whom leg pain is as severe or more severe than back pain.

Interventions Participants received either epidural steroid injection plus placebo pills or sham injection plus …

Association Between Respiratory Syncytial Virus Activity And Pneumococcal Disease In Infants: A Time Series Analysis Of Us Hospitalization Data., Daniel M. Weinberger, Keith P. Klugman, Claudia A. Steiner, Lone Simonsen, Cécile Viboud

Epidemiology Faculty Publications

BACKGROUND:

The importance of bacterial infections following respiratory syncytial virus (RSV) remains unclear. We evaluated whether variations in RSV epidemic timing and magnitude are associated with variations in pneumococcal disease epidemics and whether changes in pneumococcal disease following the introduction of seven-valent pneumococcal conjugate vaccine (PCV7) were associated with changes in the rate of hospitalizations coded as RSV.

METHODS AND FINDINGS:

We used data from the State Inpatient Databases (Agency for Healthcare Research and Quality), including >700,000 RSV hospitalizations and >16,000 pneumococcal pneumonia hospitalizations in 36 states (1992/1993-2008/2009). Harmonic regression was used to estimate the timing of the average seasonal …

Doctorate Of Osteopathic Medicine Overview, Nova Southeastern University

Health Professions Divisions Course Catalogs and Course Descriptions

No abstract provided.

Cancer Care Annual Report 2014-2015, Children's Mercy Hospital

Cancer Center Annual Reports

Annual report of cancer care and oncology services at the Children's Mercy Hospital, Kansas City MO, a pediatric medical center. This report has a focus on germ cell tumors.