DOCSLIB.ORG

ﻣﻌﮭد اﻟﺑﺣوث اﻟطﺑﯾﮫ Medical Research Institute Department Human

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
ﻣﻌﮭد اﻟﺑﺣوث اﻟطﺑﯾﮫ Medical Research Institute Department Human معهد البحوث الطبيه Medical Research Institute Department Human Genetics Semester: Fall Degree: Master Academic year: 2020/2021 Course title: Genes and Diseases Time allowed: 60 minutes Course code: 1213714 Date: 3 / 12/ 2020 Midterm Exam Total marks: 25 THE EXAM CONSISTS OF “1” QUESTION IN “8” PAGES All questions to be answered Question No.1: (25 Marks, 0.5 for each) I- Choose the correct answer: 1- The mode of inheritance of Job syndrome is : A- Autosomal dominant B- Autosomal recessive C- X-linked D- Multifactorial 2- T cell deficiency is a feature of: A- Bruton X-linked agammaglobulinemia B- Hereditary angioedema C- Common variable immunodeficiency D- Ataxia Telangiactasia 3- …………… is caused by pathogenic variants in STAT3 A- Common variable immunodeficiency B- IgA deficiency C- Job syndrome D- Ataxia-telangiectasia 4- Absence of mature B cells is a feature of : A- Bruton X-linked agammaglobulinemia B- Ataxia Telangiactasia C- 22q11.2 Deletion syndrome D- Hereditary angioedema Page 1 of 8 5- Fluorescence in situ hybridization is used to diagnose: A- Bruton X-linked agammaglobulinemia B- B- Ataxia Telangiactasia C- 22q11.2 Deletion syndrome D- Hereditary angioedema 6- Deficiency of C1INH results in : A- Bruton X-linked agammaglobulinemia B- B- Ataxia Telangiactasia C- 22q11.2 Deletion syndrome D- Hereditary angioedema 7- The mode of inheritance of 22q11.2 Deletion syndrome is: A- Autosomal recessive B- X-linked C- Autosomal dominant D- Multifactorial 8- Autosomal dominant with incomplete penetrance is reported in patients with: A- Bruton X-linked agammaglobulinemia B- Ataxia Telangiactasia C- 22q11.2 Deletion syndrome D- Hereditary angioedema 9- Absent response to vaccines is a feature of : A- Bruton X-linked agammaglobulinemia B- Common variable immunodeficiency C- IgA deficiency D- Ataxia-telangiectasia 10- Live attenuated vaccines should not be given to patients with: A- Bruton X-linked agammaglobulinemia B- Common variable immunodeficiency C- IgA deficiency D- Ataxia-telangiectasia 11- BTK is the only gene associated with: A- Bruton X-linked agammaglobulinemia B- Common variable immunodeficiency C- IgA deficiency D- Ataxia-telangiectasia Page 2 of 8 12- Pathogenic variants of TNFRSF13B are found in patients with: A- Bruton X-linked agammaglobulinemia B- Common variable immunodeficiency C- IgA deficiency D- Ataxia-telangiectasia 13- Biallelic loss-of-function single nucleotide variants of ATM results in: A- Bruton X-linked agammaglobulinemia B- Common variable immunodeficiency C- IgA deficiency D- Ataxia-telangiectasia 14- Familial Mediterranean fever is caused by: A- Biallelic pathogenic variants in MEFV B- Pathogenic variants of TNFRSF13B C- Deficiency of C1INH D- Pathogenic variants in STAT3 15- The value of genetic testing is limited in patients with: A- Bruton X-linked agammaglobulinemia B- Common variable immunodeficiency C- IgA deficiency D- Ataxia-telangiectasia 16- Cancer cells are characterized by : A- Oncogene expression is rare B- Coordinated growth factor secretion C- Presence of tumor suppressor genes D- Loss of contact inhibition 17- Hereditary cancers are characterized by : A- Multiple cancers in same individual B- Mostly in elderly C- Somatic mutations D- Both hits in tumor 18- Familial cancer syndromes are mostly: A- Autosomal dominant B- Autosomal recessive C- X-linked D- Multifactorial Page 3 of 8 19- In diagnosing cancer, currently the preferred method for deletion/duplication analysis: A- Full gene sequencing B- Multiplex ligand-dependent probe amplification C- Chromosome analysis D- Restriction fragment length polymorphism 20- The retinoblastoma gene is located on chromosome:' A- 12p14 B- 13p14 C- 12q14 D- 13q14 21- The Li – Fraumeni syndrome is caused by mutation of a gene located on chromosome A- 17p13.3 B- 17q13.3 C- 17p11 D- 17q11 22- Retinoblastoma results from: A- Loss of an oncogene B- Activation of an oncogene C- Loss of tumor suppressor gene D- Activation of tumor suppressor gene 23- BRCA1 gene mutation will result in: A- Adrenocortical carcinomas B- Brain tumors C- Soft tissue and bone sarcomas D- Breast cancer 24- In patients with unilateral retinoblastoma: A- Sequence analysis of RB1 full gene is performed on peripheral blood DNA to identify small deletions, insertions, and base substitutions B- Molecular genetic testing for RB1 gene mutation or hypermethylation is initially performed on tumor DNA, followed by targeted testing of peripheral blood DNA C- Analysis for submicroscopic whole exon and multiexon deletions, insertions, and rearrangements by MLPA D- Gross deletion/duplication analysis by FISH Page 4 of 8 25- Segregation analysis may help in cancer patients where the: A- Test results are positive B- Test results are negative C- Test results are uninformative D- Test results show variant of uncertain significance 26- Which of the following applies to the thoracic duct? A- it drains the entire body above the diaphragm B- it empties its contents into the subclavian vein C- it carries blood into the lymphatic system D- it arises in the vessels of the brain 27- Which of the following is NOT likely to be found in the lymph? A- red blood cells B- protein molecules C- microorganisms D- macrophages 28- Those lymphatic vessels that are rich in fat A- are found only in the brain B- are known as lacteals C- enter the left atrium of the heart D- are found only within the spleen 29- What ethnic group is cystic fibrosis found most in? A- Asian B- African American C- Hispanics D- Caucasian 30- Which symptom in a child might mean CF? A- Stools that are pale, foul, or float B- Frequent wheezing or pneumonia C- Salty-tasting skin D- All of the above 31- How is CF passed down through families? A- One parent is a carrier of the CF gene B- One grandparent is a carrier of the CF gene C- Both parents are carriers of the CF gene D- All of the above 32- The mode of inheritance of Hereditary Lymphedema II is…………….. A- Autosomal recessive B- Autosomal dominant C- X-linked recessive Page 5 of 8 D- Maternal inheritance 33- What is the most common CFTR mutation? A- deltaF408 B- deltaF508 C- N1303K D- R1162X 34- Which of the following is characterized by isolated lymphedema? A- Noonan Syndrome B- Milory Disease C- Costello syndrome D- Turner syndrome 35- Hereditery Lymphedema I is caused by mutations in ………………..gene A- FGFR-2 B- FGFR-3 C- VEGFR-2 D- VEGFR-3 36- CFTR gene is mapped to….. A- 7q31 B- 7p31 C- 3q17 D- 3p17 37- ……………..is used for sweat stimulation in the diagnosis of CF. A- Pilocarpine iontophoresis B- Immunoreactive trypsinogen C- High salt content in CF sweat D- Chloride content 38- Which of the following is FALSE about Lymphedema with Distichiasis? A- Autosomal dominant B- caused by mutations in FOXC2 C- congenital odema D- Renal anomalies 39- The mode of inheritance of Lymphedema- Microcephaly- chorioretinopathy is……. E- Autosomal recessive F- Autosomal dominant G- X-linked recessive H- Maternal inheritance Page 6 of 8 40- The primary function of CFTR is cyclic AMP-stimulated protein kinase A regulation of…………… A- the endobronchial space B- chloride conductance C- the lipase component D- ciliary movement 41- Which of the following methods is the most commonly recommended for newborn screening? A- Mutation testing B- Sweat test C- Immunoreactive trypsinogen D- B and C 42- Which of the following mutation classes is associated with reduced levels of normal functioning CFTR protein at cell surface? A- Class I B- Class II C- Class III D- Class V 43- The most important differential diagnosis of Turner syndrome is………….. A- Noonan Syndrome B- Aagenaes syndrome C- Down syndrome D- All of the above 44- All of the following are true about cystic hygroma EXCEPT…….. A- Due to distention of the jugular sac B- disturbed posterior hairline C- never decompresses D- Often seen with fetal aneuploidy 45- ………….is a fatal condition if left untreated in newborns with CF. A- Bronchiectasis B- Meconium ileus C- Salty sweat D- All of the above 46- lymphedema of the face, intestinal lymphangiectasia and mental retardation are the main manifestations of………………….. A- Milory Disease B- Aagenaes syndrome C- Cardiofaciocutaneous syndrome D- Hennekam syndrome Page 7 of 8 47- How are male reproductive organs affected by CF? A- CBAVD with infertility B- Defective spermatogenesis C- normal organ development, may have reduced fertility D- A and B 48- Which of the following CFTR properties is FALSE? A- Sensor for intracellular ATP levels B- negative regulatory effect on ORCC C- Facilitator of acidification of intracellular organelles D- negative regulatory effect on ENaC 49- How is the digestive system affected by extra mucus in CF? A- The mucus can cause stomach ulcers B- The mucus can damage the bile ducts in the liver C- The mucus can clog the ducts in the pancreas D- B and C 50- Which of the following is NOT true about Aagenaes syndrome? A- Autosomal recessive B- Mapped to 17q C- Cholestasis D- Malabsorption GOOD LUCK Page 8 of 8 .
Load more

Recommended publications
  • The Pathophysiology of Paroxysmal Nocturnal Haemoglobinuria.Pdf
    The Pathophysiology of Paroxysmal Nocturnal Haemoglobinuria Richard John Kelly Submitted in accordance with the requirements for the degree of Doctor of Philosophy The University of Leeds School of Medicine January 2014 1 Jointly-Authored Publications The candidate confirms that the work submitted is his own, except where work which has formed part of jointly authored publications has been included. The contribution of the candidate and the other authors to this work has been explicitly indicated below. The candidate confirms that appropriate credit has been given within the thesis where reference has been made to the work of others. The work in Chapter 3 of the thesis has appeared in publication as follows: Kelly RJ, Hill A, Arnold LM, Brooksbank GL, Richards SJ, Cullen M, Mitchell LD, Cohen DR, Gregory WM, Hillmen P. Long-term treatment with eculizumab in paroxysmal nocturnal hemoglobinuria: sustained efficacy and improved survival. Blood 2011;117:6786-6792. I was responsible for designing the study, collecting and analysing the data and writing the paper. Dena Cohen and Walter Gregory performed the statistical analysis. All the other authors reviewed the paper. The work in Chapter 4 of the thesis has appeared in publication as follows: Kelly R, Arnold L, Richards S, Hill A, Bomken C, Hanley J, Loughney A, Beauchamp J, Khursigara G, Rother RP, Chalmers E, Fyfe A, Fitzsimons E, Nakamura R, Gaya A, Risitano AM, Schubert J, Norfolk D, Simpson N, Hillmen P. The management of pregnancy in paroxysmal nocturnal haemoglobinuria on long term eculizumab. Br J Haematol 2010;149:446-450. I was responsible for designing the study, collecting and analysing the data and writing the paper.
    [Show full text]
  • Comprehensive Genetic Testing for Primary Immunodeficiency
     Woon and Ameratunga Allergy Asthma Clin Immunol (2016) 12:65 Allergy, Asthma & Clinical Immunology DOI 10.1186/s13223-016-0169-2 RESEARCH Open Access Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10‑year experience in Auckland, New Zealand See‑Tarn Woon and Rohan Ameratunga* Abstract Background and purpose: New Zealand is a developed geographically isolated country in the South Pacific with a population of 4.4 million. Genetic diagnosis is the standard of care for most patients with primary immunodeficiency disorders (PIDs). Methods: Since 2005, we have offered a comprehensive genetic testing service for PIDs and other immune-related disorders with a published sequence. Here we present results for this program, over the first decade, between 2005 and 2014. Results: We undertook testing in 228 index cases and 32 carriers during this time. The three most common test requests were for X-linked lymphoproliferative (XLP), tumour necrosis factor receptor associated periodic syndrome (TRAPS) and haemophagocytic lymphohistiocytosis (HLH). Of the 32 suspected XLP cases, positive diagnoses were established in only 2 patients. In contrast, genetic defects in 8 of 11 patients with suspected X-linked agammaglobu‑ linemia (XLA) were confirmed. Most XLA patients were initially identified from absence of B cells. Overall, positive diagnoses were made in about 23% of all tests requested. The diagnostic rate was lowest for several conditions with locus heterogeneity. Conclusions: Thorough clinical characterisation of patients can assist in prioritising which genes should be tested. The clinician-driven customised comprehensive genetic service has worked effectively for New Zealand. Next genera‑ tion sequencing will play an increasing role in disorders with locus heterogeneity.
    [Show full text]
  • Are Complement Deficiencies Really Rare?
    G Model MIMM-4432; No. of Pages 8 ARTICLE IN PRESS Molecular Immunology xxx (2014) xxx–xxx Contents lists available at ScienceDirect Molecular Immunology j ournal homepage: www.elsevier.com/locate/molimm Review Are complement deficiencies really rare? Overview on prevalence, ଝ clinical importance and modern diagnostic approach a,∗ b Anete Sevciovic Grumach , Michael Kirschfink a Faculty of Medicine ABC, Santo Andre, SP, Brazil b Institute of Immunology, University of Heidelberg, Heidelberg, Germany a r a t b i c s t l e i n f o r a c t Article history: Complement deficiencies comprise between 1 and 10% of all primary immunodeficiencies (PIDs) accord- Received 29 May 2014 ing to national and supranational registries. They are still considered rare and even of less clinical Received in revised form 18 June 2014 importance. This not only reflects (as in all PIDs) a great lack of awareness among clinicians and gen- Accepted 23 June 2014 eral practitioners but is also due to the fact that only few centers worldwide provide a comprehensive Available online xxx laboratory complement analysis. To enable early identification, our aim is to present warning signs for complement deficiencies and recommendations for diagnostic approach. The genetic deficiency of any Keywords: early component of the classical pathway (C1q, C1r/s, C2, C4) is often associated with autoimmune dis- Complement deficiencies eases whereas individuals, deficient of properdin or of the terminal pathway components (C5 to C9), are Warning signs Prevalence highly susceptible to meningococcal disease. Deficiency of C1 Inhibitor (hereditary angioedema, HAE) Meningitis results in episodic angioedema, which in a considerable number of patients with identical symptoms Infections also occurs in factor XII mutations.
    [Show full text]
  • Hereditary Angioedema: a Broad Review for Clinicians
    REVIEW ARTICLE Hereditary Angioedema A Broad Review for Clinicians Ugochukwu C. Nzeako, MD, MPH; Evangelo Frigas, MD; William J. Tremaine, MD ereditary angioedema (HAE) is an autosomal dominant disease that afflicts 1 in 10000 to 1 in 150000 persons; HAE has been reported in all races, and no sex predomi- nance has been found. It manifests as recurrent attacks of intense, massive, localized edema without concomitant pruritus, often resulting from one of several known trig- Hgers. However, attacks can occur in the absence of any identifiable initiating event. Historically, 2 types of HAE have been described. However, a variant, possibly X-linked, inherited angioedema has recently been described, and tentatively it has been named “type 3” HAE. Signs and symptoms are identical in all types of HAE. Skin and visceral organs may be involved by the typically massive local edema. The most commonly involved viscera are the respiratory and gastrointestinal sys- tems. Involvement of the upper airways can result in severe life-threatening symptoms, including the risk of asphyxiation, unless appropriate interventions are taken. Quantitative and functional analyses of C1 esterase inhibitor and complement components C4 and C1q should be performed when HAE is suspected. Acute exacerbations of the disease should be treated with intravenous purified C1 esterase inhibitor concentrate, where available. Intravenous administration of fresh frozen plasma is also useful in acute HAE; however, it occasionally exacerbates symptoms. Corti- costeroids, antihistamines, and epinephrine can be useful adjuncts but typically are not effica- cious in aborting acute attacks. Prophylactic management involves long-term use of attenuated androgens or antifibrinolytic agents.
    [Show full text]
  • Practice Parameter for the Diagnosis and Management of Primary Immunodeficiency
    Practice parameter Practice parameter for the diagnosis and management of primary immunodeficiency Francisco A. Bonilla, MD, PhD, David A. Khan, MD, Zuhair K. Ballas, MD, Javier Chinen, MD, PhD, Michael M. Frank, MD, Joyce T. Hsu, MD, Michael Keller, MD, Lisa J. Kobrynski, MD, Hirsh D. Komarow, MD, Bruce Mazer, MD, Robert P. Nelson, Jr, MD, Jordan S. Orange, MD, PhD, John M. Routes, MD, William T. Shearer, MD, PhD, Ricardo U. Sorensen, MD, James W. Verbsky, MD, PhD, David I. Bernstein, MD, Joann Blessing-Moore, MD, David Lang, MD, Richard A. Nicklas, MD, John Oppenheimer, MD, Jay M. Portnoy, MD, Christopher R. Randolph, MD, Diane Schuller, MD, Sheldon L. Spector, MD, Stephen Tilles, MD, Dana Wallace, MD Chief Editor: Francisco A. Bonilla, MD, PhD Co-Editor: David A. Khan, MD Members of the Joint Task Force on Practice Parameters: David I. Bernstein, MD, Joann Blessing-Moore, MD, David Khan, MD, David Lang, MD, Richard A. Nicklas, MD, John Oppenheimer, MD, Jay M. Portnoy, MD, Christopher R. Randolph, MD, Diane Schuller, MD, Sheldon L. Spector, MD, Stephen Tilles, MD, Dana Wallace, MD Primary Immunodeficiency Workgroup: Chairman: Francisco A. Bonilla, MD, PhD Members: Zuhair K. Ballas, MD, Javier Chinen, MD, PhD, Michael M. Frank, MD, Joyce T. Hsu, MD, Michael Keller, MD, Lisa J. Kobrynski, MD, Hirsh D. Komarow, MD, Bruce Mazer, MD, Robert P. Nelson, Jr, MD, Jordan S. Orange, MD, PhD, John M. Routes, MD, William T. Shearer, MD, PhD, Ricardo U. Sorensen, MD, James W. Verbsky, MD, PhD GlaxoSmithKline, Merck, and Aerocrine; has received payment for lectures from Genentech/ These parameters were developed by the Joint Task Force on Practice Parameters, representing Novartis, GlaxoSmithKline, and Merck; and has received research support from Genentech/ the American Academy of Allergy, Asthma & Immunology; the American College of Novartis and Merck.
    [Show full text]
  • Package Insert Has Been Approved by the U.S
    HIGHLIGHTS OF PRESCRIBING INFORMATION **Doses up to 1,000 U every 3 to 4 days may be considered based on These highlights do not include all the information needed to use individual patient response. ® CINRYZE safely and effectively. See full prescribing information for ---------------------- DOSAGE FORMS AND STRENGTHS -------------------- CINRYZE. Approximately 500 Units (lyophilized) in an 8 mL vial. (3) CINRYZE (C1 Esterase Inhibitor [Human]) ---------------------------- CONTRAINDICATIONS ------------------------------- For Intravenous Use, Freeze-Dried Powder for Reconstitution Patients who have manifested life-threatening immediate hypersensitivity Initial U.S. Approval: 2008. reactions, including anaphylaxis, to the product (4). --------------------------- RECENT MAJOR CHANGES -------------------------- ----------------------------- WARNINGS/PRECAUTIONS ------------------------ • Indications and Usage (1) 06/2018 • Hypersensitivity reactions may occur. Have epinephrine immediately • Dosage and Administration (2.1) 06/2018 available for treatment of acute severe hypersensitivity reaction (5.1) • --------------------------- INDICATIONS AND USAGE --------------------------- Serious arterial and venous thromboembolic (TE) events have been CINRYZE is a C1 esterase inhibitor indicated for routine prophylaxis against reported at the recommended dose of C1 Esterase Inhibitor (Human) angioedema attacks in adults, adolescents and pediatric patients (6 years of products, including CINRYZE, following administration in patients with age and older)
    [Show full text]
  • European Society for Immunodeficiencies (ESID)
    Journal of Clinical Immunology https://doi.org/10.1007/s10875-020-00754-1 ORIGINAL ARTICLE European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management Nicholas Brodszki1 & Ashley Frazer-Abel2 & Anete S. Grumach3 & Michael Kirschfink4 & Jiri Litzman5 & Elena Perez6 & Mikko R. J. Seppänen7 & Kathleen E. Sullivan8 & Stephen Jolles9 Received: 5 June 2019 /Accepted: 20 January 2020 # The Author(s) 2020 Abstract This guideline aims to describe the complement system and the functions of the constituent pathways, with particular focus on primary immunodeficiencies (PIDs) and their diagnosis and management. The complement system is a crucial part of the innate immune system, with multiple membrane-bound and soluble components. There are three distinct enzymatic cascade pathways within the complement system, the classical, alternative and lectin pathways, which converge with the cleavage of central C3. Complement deficiencies account for ~5% of PIDs. The clinical consequences of inherited defects in the complement system are protean and include increased susceptibility to infection, autoimmune diseases (e.g., systemic lupus erythematosus), age-related macular degeneration, renal disorders (e.g., atypical hemolytic uremic syndrome) and angioedema. Modern complement analysis allows an in-depth insight into the functional and molecular basis of nearly all complement deficiencies. However, therapeutic options remain relatively limited for the majority of complement deficiencies with the exception of hereditary angioedema and inhibition of an overactivated complement system in regulation defects. Current management strategies for complement disor- ders associated with infection include education, family testing, vaccinations, antibiotics and emergency planning. Keywords Complement .
    [Show full text]
  • Iga Nephropathy in Hereditary Angioedema Jayashri Srinivasan and Peter Beck Department Ofmedicine, Llandough Hospital, Penarth, South Glanorgan CF6 IXX, UK
    Postgrad Med J: first published as 10.1136/pgmj.69.808.95 on 1 February 1993. Downloaded from Postgrad Med J (1993) 69, 95 - 99 ©) The Fellowship of Postgraduate Medicine, 1993 IgA nephropathy in hereditary angioedema Jayashri Srinivasan and Peter Beck Department ofMedicine, Llandough Hospital, Penarth, South Glanorgan CF6 IXX, UK Summary: Hereditary angioedema is an autosomal dominant disorder of the complement system in which there is a deficiency of the inhibitor of the activated first component of complement. We have previously reported on three generations of a family with classic hereditary angioedema. Three members of this family have now developed IgA nephropathy. The association of hereditary angioedema with various immunoregulatory disorders has been previously reported but this is the first report of IgA nephropathy in association with this condition. Introduction Hereditary angioedema is an inherited disorder in report, case 1 appears at IV.2, case 2 at III.2, and which there is a quantitative or functional cases 3 and 4 at IV.3 and IV.4, respectively. deficiency of the inhibitor of the activated first Following the presentation of case 1 with component of complement, Cl inhibitor (Cl- painless haematuria in 1989, and the discovery that INH). It is characterized by recurrent attacks of this was due to IgA nephropathy, we decided to non-pitting oedema of the extremities, face, larynx review the other members of the family for and abdomen including the bowel mucosa. An haematuria and to check their renal function. copyright. association of hereditary angioedema with various immunoregulatory disorders including systemic lupus erythematosus, lupus-like disease, Sj6gren's Case reports syndrome, autoimmune thyroid disease, inflam- matory bowel disorder,' IgA deficiency,2 mesan- Case I giocapillary glomerulonephritis3 and coronary arteritis4 has been described.
    [Show full text]
  • C1 Esterase Inhibitor Deficiency, Airway Compromise, And
    C1 Inhibitor Deficiency and Anesthesia Niels F. Jensen, M.D. 1 John M. Weiler, M.D. 2 1. Assistant Professor, Department of Anesthesia, University of Iowa, and Iowa City VA Medical Center, Iowa City, Iowa 2. Professor, Department of Internal Medicine, University of Iowa, and Iowa City VA Medical Center, Iowa City, Iowa Address correspondence to Dr. Jensen, Department of Anesthesia, University of Iowa College of Medicine, Iowa City, Iowa 52242. (319) 356-2633 FAX 319-356-2940 1 Outline I. Introduction II. Pathophysiology III. Types and diagnosis IV. Natural history, manifestations, clinical presentation V. Airway involvement VI. Management of C1 INH deficiency A. Drug therapy: Anabolic steroids, EACA, FFP, C1 INH concentrate B. Chronic prophylaxis C. Prophylaxis before elective surgical procedures D. Prophylaxis before emergency procedures E. Treatment of acute attacks F. New and experimental therapies G. Special anesthetic considerations VII. Summary 2 Key Words: Angioedema Complement C1 INH C1 inhibitor C1 esterase Hereditary angioedema (HAE) Hereditary angioneurotic edema (HANE) SERPIN 3 I. Introduction Hereditary angioedema (HAE) is a condition that is characterized by episodic and sometimes lifethreatening airway edema. HAE represents one of the most serious genetic 1 abnormalities involving the complement system. In 1882, Heinrich I. Quincke published the first detailed description and three years later Strubing used the term “angioedema” to describe this disorder for the first time. By 1888 Osler demonstrated the hereditary nature of the clinical presentation. 2 The pathophysiologic basis of HAE, deficiency of C1 esterase inhibitor which is also called C1 inhibitor (C1 INH), was postulated in the early 1960s. 3, 4 In 1972, an aquired form of C1 INH deficiency was first reported.
    [Show full text]
  • Diagnostic Cost Group Hierarchical Condition Category Models for Medicare Risk Adjustment Final Report
    Diagnostic Cost Group Hierarchical Condition Category Models for Medicare Risk Adjustment Final Report Submitted by: Gregory C. Pope, M.S.1 Randall P. Ellis, Ph.D.2 Arlene S. Ash, Ph.D.3 John Z. Ayanian, M.D., M.P.P.4 David W. Bates, M.D., M.Sc.5 Helen Burstin, M.D., M.P.H.6 Lisa I. Iezzoni, M.D., M.Sc.7 Edward Marcantonio, M.D., S.M.8 Bei Wu, Ph.D.1 Affiliations: 1Health Economics Research, Inc. Waltham, MA 2Department of Economics, Boston University, Boston, MA 3Health Care Research Unit, Boston University School of Medicine, Boston, MA 4Associate Professor of Medicine and Health Care Policy, Harvard Medical School and Brigham and Women's Hospital 5Chief, Division of General Medicine, Brigham and Women's Hospital, Medical Director of Clinical and Quality Analysis, Partners Healthcare, Associate Professor of Medicine, Harvard Medical School 6Assistant Professor, Harvard Medical School (on leave) 7Professor of Medicine at Harvard Medical School and Co-Director of Research, Division of General Medicine and Primary Care, Beth Israel Deaconess Medical Center 8Assistant Professor of Medicine, Harvard Medical School, Director of Quality and Outcomes Research, Hebrew Rehabilitation Center for Aged Prepared for: Health Care Financing Administration December 21, 2000 This report is submitted under Contract No. 500-95-048, with the Health Care Financing Administration. The views and opinions expressed in this report are the authors�; no endorsement by HCFA is intended or should be inferred. The contractor assumes responsibility for the accuracy and completeness of information in this report. The authors thank Melvin J.
    [Show full text]
  • Angioedema, ACE Inhibitor and COVID-19 Ekjot Grewal ‍ ‍ ,1 Bayu Sutarjono,1,2 Ibbad Mohammed1
    Findings that shed new light on the possible pathogenesis of a disease or an adverse effect BMJ Case Rep: first published as 10.1136/bcr-2020-237888 on 9 September 2020. Downloaded from Case report Angioedema, ACE inhibitor and COVID-19 Ekjot Grewal ,1 Bayu Sutarjono,1,2 Ibbad Mohammed1 1Department of Emergency SUMMARY benazepril, approximately 4 months ago. He had Medicine, Brookdale University SARS-CoV -2, the virus responsible for COVID-19, binds to no personal or family history of facial or tongue Hospital Medical Center, the ACE2 receptors. ACE2 is thought to counterbalance swelling. Brooklyn, New York, USA ACE in the renin- angiotensin system. While presently 2Saba University School it is advised that patients should continue to use ACE of Medicine, Devens, INVESTIGATIONS Massachusetts, USA inhibitors or angiotensin receptor blockers, questions still remain as to whether adverse effects are potentiated by On examination, the patient was afebrile and normotensive, with an oxygen saturation of 96% on Correspondence to the virus. Here, we report a case of a 57-year -old man, Bayu Sutarjono; unknowingly with COVID-19, who presented to the room air. There was pronounced oedema involving b. sutarjono@ saba. edu emergency department with tongue swelling, shortness the lingual mucosa and subcutaneous tissues of the of breath and difficulty in speaking following 4 months perioral area without pain or pruritus. Cardiac Accepted 25 August 2020 taking benazepril, an ACE inhibitor. Finally, we also auscultation revealed tachycardia without any describe possible pathways that exist for SARS-CoV -2 to pathological murmurs. Auscultation of the lungs interact with the mechanism behind angioedema.
    [Show full text]
  • Angioedema in the Emergency Department and Reviews the New Higher Level of Care
    November 2012 Angioedema In The Volume 14, Number 11 Emergency Department: Author R. Gentry Wilkerson, MD, FACEP, FAAEM Assistant Professor, Coordinator for Research, Department of An Evidence-Based Review Emergency Medicine, University of Maryland School of Medicine, Baltimore, MD Abstract Peer Reviewers Alex Manini, MD, MS Assistant Professor of Emergency Medicine, Mount Sinai School of Angioedema is the end result of a variety of pathophysiological Medicine, New York, NY processes resulting in transient, localized, nonpitting swelling James Scott, MD Professor of Emergency Medicine and Health Policy, The George of the subcutaneous layer of the skin or submucosal layer of the Washington University of Medicine and Health Sciences, Washington, DC respiratory or gastrointestinal tracts. It is now generally accepted that the swelling is mediated by either histamine or bradykinin. CME Objectives Angioedema may result in severe upper airway compromise Upon completion of this article, you should be able to: 1. Discuss the various types of angioedema and the mechanism by or—less commonly recognized—compromise in the gastrointes- which the swelling occurs. tinal tract often associated with severe abdominal pain. A variety 2. Describe an appropriate workup of a patient with undifferentiated of new therapeutic options are becoming available for use in the angioedema. United States that have the potential to greatly impact the manage- 3. Determine appropriate therapy for treatment of angioedema and understand the rationale behind each therapeutic option. ment and outcomes for those with severe clinical manifestations. 4. Discuss appropriate disposition for these patients with an This review assesses the evidence on the causes and treatments of understanding of which patients are at higher risk of needing a angioedema in the emergency department and reviews the new higher level of care.
    [Show full text]