• deficiency
  • Urea cycle disorders are a collection of 8 enzymes involved in waste nitrogen excretion as urea including N-acetylglutamate synthase deficiency (NAGS), carbamoylphosphate synthetase (CPS1), ornithine transcarbamylase deficiency (OTC), citrin deficiency (including citrullinemia type 2, CIT2), argininosuccinic acidemia (ASA), and argninase deficiency (ARG). (psychiatryadvisor.com)
  • Genzyme's business focused on enzyme deficiency diseases. (wikipedia.org)
  • The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside. (wikipedia.org)
  • Pseudocholinesterase deficiency results in delayed metabolism of only a few compounds of clinical significance, including the following: succinylcholine, mivacurium, procaine, heroin, and cocaine. (wikipedia.org)
  • Following the approval and success of Ceredase in 1991, Genzyme became devoted to finding drugs, involving recombinant human enzymes that would treat enzyme deficiency conditions that were essential to human survival and which usually afflict a very small percentage of the world's population. (wikipedia.org)
  • The version related to bradykinin may occur due to an inherited problem known as C1 esterase inhibitor deficiency, medications known as angiotensin converting enzyme inhibitors, or a lymphoproliferative disorder. (wikipedia.org)
  • Reagents
  • A diagnostic system is a set of devices, instruments, reagents, test kits, control kits and disposable materials used to analyse biological samples in order to determine patients' health status by providing information concerning a specific physiological or pathological condition or genetic anomaly. (mynewsdesk.com)
  • assay
  • ALBUQUERQUE, N.M., Sept. 2 /PRNewswire-FirstCall/ -- Clinical Lab Products magazine features Biomoda, Inc. (OTC Bulletin Board: BMOD) ( http://www.biomoda.com ) and its proprietary early lung cancer screening assay as one of the more promising advances in the cancer diagnostic technology. (bio-medicine.org)
  • The ease in use of the assay is apparent, as well as the benefit of a test that detects cancer at its earliest stage," said John Cousins, President of Biomoda. (bio-medicine.org)
  • a second phase will test more than 2000 veterans for lung cancer using Biomoda's non-invasive patented assay. (bio-medicine.org)
  • An assembly for selectively performing a clinical chemical test or an ELISA assay including a reagent cartridge with a housing 11 having at least one cavity 12, 13, 14 that contains a reaction or diluting component and having a recess 15 in which a solid phase 20 to which an antigen or antibody can be coupled is inserted into the recess 15 of the housing 11. (patents.com)
  • Assay of butyrylcholinesterase activity in plasma can be used as a liver function test as both hypercholinesterasemia and hypocholinesterasemia indicate pathological processes. (wikipedia.org)
  • In many endemic areas of tropical Africa, however, the quantitative assessment of parasitaemia is important, as a large percentage of the population will test positive in any qualitative assay. (wikipedia.org)
  • genetic
  • One area of growing interest - and some controversy - is neuropsychiatric pharmacogenomic testing, which uses genetic information to predict responses to medications based on known gene-drug interactions. (mayoclinic.org)
  • We would hope to see maximal benefit from any medication in three to six visits, but if patients aren't responding, genetic testing may help guide us to a better medication with a shorter response time," Dr. Vande Voort says. (mayoclinic.org)
  • other genetic tests. (mynewsdesk.com)
  • There may be genetic variability in the kinetics of this enzyme that can lead to prolonged muscle blockade and potentially dangerous respiratory depression that needs to be treated with assisted ventilation. (wikipedia.org)
  • As a subsidiary of Sanofi, Genzyme has a presence in approximately 65 countries, including 17 manufacturing facilities and 9 genetic-testing laboratories. (wikipedia.org)
  • ELISA
  • 1. An assembly for selectively performing a clinical chemical test or an ELISA test comprising: an analytical device, wherein the analytical device comprises a holding fixture and an optical unit, and is adapted to control the temperature of the holding fixture at between 27.degree. (patents.com)
  • Outcomes
  • This research paper presents clinical outcomes of hypofractionated high-dose irradiation by intensity-modulated radiation therapy (Hypo-IMRT) with 11 C-methionine positron emission tomography (MET-PET) data for the treatment of glioblastoma multiforme (GBM). (hindawi.com)
  • Secondary outcomes include changes in depressive symptoms on clinician, patient and parent reports and global assessments as well as adherence to treatment based on concordance or nonconcordance of gene test results and clinical interventions. (mayoclinic.org)
  • Methods
  • The various types of in vitro diagnostic (IVD) tests can often be performed through many different methods and different kinds of technology, and may be performed automatically, semi-automatically or manually. (mynewsdesk.com)
  • selectively
  • Based on recent PET studies, we believe it would be reasonable to conduct a trial designed to evaluate the clinical outcome of RT selectively increasing the radiation dose to high-uptake area of MET-PET in patients with GBM. (hindawi.com)
  • routine
  • These tests are expensive, and we need more data before ordering them on a routine basis," explains co-investigator Jennifer L. Vande Voort, M.D. , a child and adolescent psychiatrist at Mayo Clinic's campus in Rochester, Minnesota. (mayoclinic.org)
  • The malaria marker enzyme test is suitable for routine work and is now a standard test in most departments dealing with malaria. (wikipedia.org)
  • activity
  • The more drug there is in the sample, the more free enzyme there will be, and the increased enzyme activity causes a change in color. (wikipedia.org)
  • The GluDH activity in P.vivax, P.ovale and P. malariae has never been tested, but given the importance of GluDH as a branch point enzyme, every cell must have a high concentration of GluDH. (wikipedia.org)
  • drugs
  • One open-label study, published in Pharmacogenetics and Genomics in 2013, looked at a multigene pharmacogenomic testing platform (GeneSight) for managing drugs used to treat major depression in adults. (mayoclinic.org)
  • EMIT therapeutic drug monitoring tests provide accurate information about the concentration of such drugs such as immunosuppressant drugs and some antibiotics. (wikipedia.org)
  • The enzyme alpha-galactosidase now is allowed to be produced in moss bioreactors by the German Federal Institute for Drugs and Medical Devices. (wikipedia.org)
  • known
  • Presence of pGluDH is known to represent parasite viability and a rapid diagnostic test using pGluDH as antigen would have the ability to differentiate live from dead organisms. (wikipedia.org)
  • Treatment
  • At eight weeks, participants whose treatment was based on testing demonstrated a greater improvement in depression scores and higher remission rates compared with controls. (mayoclinic.org)
  • Utility of integrated pharmacogenomic testing to support the treatment of major depressive disorder in a psychiatric outpatient setting. (mayoclinic.org)
  • Aniru Sahib Sahib Conteh (6 August 1942 - 4 April 2004) was a Sierra Leonean physician and expert on the clinical treatment of Lassa fever, a viral haemorrhagic fever endemic to West Africa caused by the Lassa virus. (wikipedia.org)
  • Disease
  • Carrier (or heterozygote) females will have a 50% chance of transmitting this mutation to each son who would be clinically affected and a 50% chance of transmitting this mutation to each daughter who would also have a 15% chance of clinical disease. (thecardiologyadvisor.com)
  • Prenatal testing is also available to determine if the fetus will have the disease or is a carrier. (wikipedia.org)
  • He later returned to Sierra Leone where he joined the Centers for Disease Control and Prevention (CDC) Lassa fever program at Nixon Methodist Hospital in Segbwema, first as superintendent and then as clinical director. (wikipedia.org)
  • protein
  • The insulin-degrading enzyme (IDE or insulysin, EC 3.4.24.56) is a ∼110-kDa member of the M16 family of zinc-metalloendopeptidases involved in the proteolysis of various amyloidogenic peptides such as insulin, glucagon, amyloid β-protein, amylin, and atrial natriuretic protein (rev. in 1 ). (diabetesjournals.org)
  • substance abuse
  • In the U.S., the cutoff limits must be set in accordance with Mandatory Guidelines for Federal Workplace Drug Testing Programs that were developed by SAMHSA (The Substance Abuse and Mental Health Services Administration is a branch of the U.S. Department of Health and Human Services). (wikipedia.org)
  • produce
  • People with these disorders either do not produce enough of one of the enzymes needed to metabolize and break down lipids or they produce enzymes that do not work properly. (wikipedia.org)
  • Oxidase test on nutrient agar tests for the production of the enzyme oxidase, which reacts with an aromatic amine to produce a purple color. (wikipedia.org)
  • present
  • Based on the P waves and QRS complexes that can be evaluated from these readings, that relationship will be the standardized test if an AV block is present or not. (wikipedia.org)
  • Individuals
  • In individuals with normal plasma levels of normally functioning pseudocholinesterase enzyme, hydrolysis and inactivation of approximately 90-95% of an intravenous dose of succinylcholine occurs before it reaches the neuromuscular junction. (wikipedia.org)
  • Type
  • We observed no statistically significant evidence of association between single-marker or multimarker tests in IDE and type 2 diabetes. (diabetesjournals.org)
  • The type of test required dictates what type of sample is used. (wikipedia.org)
  • severe
  • These later onset presentations are often due to partial enzyme deficiencies and may not lead to severe, permanent brain damage and developmental delays often seen in early, more severe onset forms. (psychiatryadvisor.com)
  • The following events were adjudicated: investigator-reported pancreatitis, adverse events (AEs) of severe or serious abdominal pain of unknown etiology, and confirmed asymptomatic increases in pancreatic enzymes ≥3× the upper limit of normal range. (diabetesjournals.org)
  • however
  • No studies have looked at pharmacogenomic testing for children and adolescents, however. (mayoclinic.org)
  • however it was withdrawn from testing when no difference was detected in the duration of median survival as compared to the progestational agent megestrol acetate and research instead focused on the other third generation aromatase inhibitors anastrozole, letrozole and exemestane. (wikipedia.org)
  • microscopy
  • The RDT tests are still regarded as complements to conventional microscopy but with some improvements it may well replace the microscope. (wikipedia.org)
  • positive
  • Because of the social and legal consequences, a positive test result must be confirmed by an alternative method, usually Gas Chromatography/Mass spectrometry. (wikipedia.org)
  • results
  • The results indicate that CK estimates of myocardial infarct size represent a valid clinical end point for assessing myocardial infarct size, and the effect of therapy thereon, in groups of treated and control patients. (biomedsearch.com)
  • shown
  • The plant has shown promise as a source of a compound that inhibits an enzyme crucial to the development of HIV. (wikipedia.org)