My Beloved Neutrophil Dr Boxer 2014 Neutropenia Family Conference
Total Page：16
File Type：pdf, Size：1020Kb
Load more
Recommended publications
-
Neutropenia Fact Sheet
Neutropenia in Barth Syndrome i ii (Chronic, Cyclic or Intermittent) What problems can Neutropenia cause? Neutrophils are the main white blood cell for fighting or preventing bacterial or fungal infections. They may be referred to as polymorphonuclear cells (polys or PMNs), white cells with segmented nuclei (segs), or neutrophils in the complete blood cell count (CBC) report. Immature neutrophils are referred to as bands. When someone is neutropenic (an abnormally low level of neutrophils in the blood), the risk of infection increases. The absolute neutrophil count (ANC) is a measure of the total number of neutrophils present in the blood. When the ANC is less than 1,000, the risk of infection increases. Most infections occur in the ears, skin or throat and to a lesser extent, the chest. These infections can be very serious and may require antibiotics to clear infections. When someone with Barth syndrome is neutropenic his defenses are weakened, he is likely to become seriously ill more quickly than someone with a normal neutrophil count. Tips: • No rectal temperatures as any break in the skin can lead to an infection. • If the individual has a temperature > 100.4° F (38° C) or has infectious symptoms, the primary physician or hematologist should be notified. The individual may need to be seen. • If the individual has a temperature of 100.4° F (38° C) – 100.5° F (38.05° C)> 8 hours or a temperature > 101.5° F (38.61° C), an immediate examination by the physician is warranted. Some or all of the following studies may be ordered: CBC with differential and ANC Urinalysis Blood, urine, and other appropriate cultures C-Reactive Protein Echocardiogram if warranted • The physician may suggest antibiotics (and G-CSF if the ANC is low) for common infections such as otitis media, stomatitis. -
Initial Experience in the Treatment of Inherited Mitochondrial Disease with EPI-743
Molecular Genetics and Metabolism 105 (2012) 91–102 Contents lists available at SciVerse ScienceDirect Molecular Genetics and Metabolism journal homepage: www.elsevier.com/locate/ymgme Initial experience in the treatment of inherited mitochondrial disease with EPI-743 Gregory M. Enns a,⁎, Stephen L. Kinsman b, Susan L. Perlman c, Kenneth M. Spicer d, Jose E. Abdenur e, Bruce H. Cohen f, Akiko Amagata g, Adam Barnes g, Viktoria Kheifets g, William D. Shrader g, Martin Thoolen g, Francis Blankenberg h, Guy Miller g,i a Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA 94305-5208, USA b Division of Neurosciences, Medical University of South Carolina, Charleston, SC 29425, USA c Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA d Department of Radiology and Radiological Science, Medical University of South Carolina, Charleston, SC 29425, USA e Department of Pediatrics, Division of Metabolic Disorders, CHOC Children's Hospital, Orange County, CA 92868, USA f Department of Neurology, NeuroDevelopmental Science Center, Akron Children's Hospital, Akron, OH 44308, USA g Edison Pharmaceuticals, 350 North Bernardo Avenue, Mountain View, CA 94043, USA h Department of Radiology, Division of Pediatric Radiology, Lucile Packard Children's Hospital, Stanford, CA 94305, USA i Department of Anesthesiology, Critical Care Medicine, Stanford University, Stanford, CA 94305, USA article info abstract Article history: Inherited mitochondrial respiratory chain disorders are progressive, life-threatening conditions for which Received 22 September 2011 there are limited supportive treatment options and no approved drugs. Because of this unmet medical Received in revised form 17 October 2011 need, as well as the implication of mitochondrial dysfunction as a contributor to more common age- Accepted 17 October 2011 related and neurodegenerative disorders, mitochondrial diseases represent an important therapeutic target. -
Inherited Bone Marrow Failure Syndrome (IBMFS) Testing
Lab Management Guidelines V2.0.2021 Inherited Bone Marrow Failure Syndrome (IBMFS) Testing MOL.TS.360.A v2.0.2021 Introduction Inherited bone marrow failure syndrome (IBMFS) genetic testing is addressed by this guideline. Procedures addressed The inclusion of any procedure code in this table does not imply that the code is under management or requires prior authorization. Refer to the specific Health Plan's procedure code list for management requirements. Procedures addressed by this Procedure codes guideline IBMFS Multigene panel 81479 What are inherited bone marrow failure syndromes Definition Bone marrow failure (BMF) is the inability of the bone marrow to produce a sufficient quantity of functional blood cells to meet physiologic demands.1 BMF is typically classified into three categories, based on presumed etiology: inherited, secondary, or idiopathic.1 Inherited bone marrow failure syndromes (IBMFSs) are a group of genetically defined disorders that are characterized by BMF. Individuals presenting with aplastic anemia (AA), myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), and chronic unexplained cytopenias should be evaluated for an IBMFS.1 Incidence "The incidence of inherited bone marrow failures accounts for 10% to 15% of marrow aplasia and 30% of pediatric bone marrow failure disorders with approximately 65 cases per million live births every year."2 Seventy-five percent of children with an IBMFS have an identifiable cause.2 ©2021 eviCore healthcare. All Rights Reserved. 1 of 17 400 Buckwalter Place Boulevard, Bluffton, SC 29910 (800) 918-8924 www.eviCore.com Lab Management Guidelines V2.0.2021 Symptoms While specific features may vary by each type of IBMFS, features that are present in most IBMFSs include bone marrow failure with single or multi-lineage cytopenia. -
Open Full Page
CCR PEDIATRIC ONCOLOGY SERIES CCR Pediatric Oncology Series Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders Michael F. Walsh1, Vivian Y. Chang2, Wendy K. Kohlmann3, Hamish S. Scott4, Christopher Cunniff5, Franck Bourdeaut6, Jan J. Molenaar7, Christopher C. Porter8, John T. Sandlund9, Sharon E. Plon10, Lisa L. Wang10, and Sharon A. Savage11 Abstract DNA repair syndromes are heterogeneous disorders caused by around the world to discuss and develop cancer surveillance pathogenic variants in genes encoding proteins key in DNA guidelines for children with cancer-prone disorders. Herein, replication and/or the cellular response to DNA damage. The we focus on the more common of the rare DNA repair dis- majority of these syndromes are inherited in an autosomal- orders: ataxia telangiectasia, Bloom syndrome, Fanconi ane- recessive manner, but autosomal-dominant and X-linked reces- mia, dyskeratosis congenita, Nijmegen breakage syndrome, sive disorders also exist. The clinical features of patients with DNA Rothmund–Thomson syndrome, and Xeroderma pigmento- repair syndromes are highly varied and dependent on the under- sum. Dedicated syndrome registries and a combination of lying genetic cause. Notably, all patients have elevated risks of basic science and clinical research have led to important in- syndrome-associated cancers, and many of these cancers present sights into the underlying biology of these disorders. Given the in childhood. Although it is clear that the risk of cancer is rarity of these disorders, it is recommended that centralized increased, there are limited data defining the true incidence of centers of excellence be involved directly or through consulta- cancer and almost no evidence-based approaches to cancer tion in caring for patients with heritable DNA repair syn- surveillance in patients with DNA repair disorders. -
THE PATHOLOGY of BONE MARROW FAILURE Roos Leguit, Jan G Van Den Tweel
THE PATHOLOGY OF BONE MARROW FAILURE Roos Leguit, Jan G van den Tweel To cite this version: Roos Leguit, Jan G van den Tweel. THE PATHOLOGY OF BONE MARROW FAILURE. Histopathology, Wiley, 2010, 57 (5), pp.655. 10.1111/j.1365-2559.2010.03612.x. hal-00599534 HAL Id: hal-00599534 https://hal.archives-ouvertes.fr/hal-00599534 Submitted on 10 Jun 2011 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Histopathology THE PATHOLOGY OF BONE MARROW FAILURE ForJournal: Histopathology Peer Review Manuscript ID: HISTOP-02-10-0090 Manuscript Type: Review Date Submitted by the 08-Feb-2010 Author: Complete List of Authors: Leguit, Roos; UMC utrecht, Pathology van den Tweel, Jan; UMC Utrecht, Pathology bone marrow, histopathology, myelodysplastic syndromes, Keywords: inherited bone marrow failure syndromes, trephine biopsy Published on behalf of the British Division of the International Academy of Pathology Page 1 of 40 Histopathology THE PATHOLOGY OF BONE MARROW FAILURE Roos J Leguit & Jan G van den Tweel University Medical Centre Utrecht Department of Pathology H4.312 Heidelberglaan 100 For Peer Review 3584 CX Utrecht The Netherlands Running title: Pathology of bone marrow failure Keywords: bone marrow, histopathology, myelodysplastic syndromes, inherited bone marrow failure syndromes, trephine biopsy. -
Pediatric Oral Pathology. Soft Tissue and Periodontal Conditions
PEDIATRIC ORAL HEALTH 0031-3955100 $15.00 + .OO PEDIATRIC ORAL PATHOLOGY Soft Tissue and Periodontal Conditions Jayne E. Delaney, DDS, MSD, and Martha Ann Keels, DDS, PhD Parents often are concerned with “lumps and bumps” that appear in the mouths of children. Pediatricians should be able to distinguish the normal clinical appearance of the intraoral tissues in children from gingivitis, periodontal abnormalities, and oral lesions. Recognizing early primary tooth mobility or early primary tooth loss is critical because these dental findings may be indicative of a severe underlying medical illness. Diagnostic criteria and .treatment recommendations are reviewed for many commonly encountered oral conditions. INTRAORAL SOFT-TISSUE ABNORMALITIES Congenital Lesions Ankyloglossia Ankyloglossia, or “tongue-tied,” is a common congenital condition characterized by an abnormally short lingual frenum and the inability to extend the tongue. The frenum may lengthen with growth to produce normal function. If the extent of the ankyloglossia is severe, speech may be affected, mandating speech therapy or surgical correction. If a child is able to extend his or her tongue sufficiently far to moisten the lower lip, then a frenectomy usually is not indicated (Fig. 1). From Private Practice, Waldorf, Maryland (JED); and Department of Pediatrics, Division of Pediatric Dentistry, Duke Children’s Hospital, Duke University Medical Center, Durham, North Carolina (MAK) ~~ ~ ~ ~ ~ ~ ~ PEDIATRIC CLINICS OF NORTH AMERICA VOLUME 47 * NUMBER 5 OCTOBER 2000 1125 1126 DELANEY & KEELS Figure 1. A, Short lingual frenum in a 4-year-old child. B, Child demonstrating the ability to lick his lower lip. Developmental Lesions Geographic Tongue Benign migratory glossitis, or geographic tongue, is a common finding during routine clinical examination of children. -
Genes in Eyecare Geneseyedoc 3 W.M
Genes in Eyecare geneseyedoc 3 W.M. Lyle and T.D. Williams 15 Mar 04 This information has been gathered from several sources; however, the principal source is V. A. McKusick’s Mendelian Inheritance in Man on CD-ROM. Baltimore, Johns Hopkins University Press, 1998. Other sources include McKusick’s, Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders. Baltimore. Johns Hopkins University Press 1998 (12th edition). http://www.ncbi.nlm.nih.gov/Omim See also S.P.Daiger, L.S. Sullivan, and B.J.F. Rossiter Ret Net http://www.sph.uth.tmc.edu/Retnet disease.htm/. Also E.I. Traboulsi’s, Genetic Diseases of the Eye, New York, Oxford University Press, 1998. And Genetics in Primary Eyecare and Clinical Medicine by M.R. Seashore and R.S.Wappner, Appleton and Lange 1996. M. Ridley’s book Genome published in 2000 by Perennial provides additional information. Ridley estimates that we have 60,000 to 80,000 genes. See also R.M. Henig’s book The Monk in the Garden: The Lost and Found Genius of Gregor Mendel, published by Houghton Mifflin in 2001 which tells about the Father of Genetics. The 3rd edition of F. H. Roy’s book Ocular Syndromes and Systemic Diseases published by Lippincott Williams & Wilkins in 2002 facilitates differential diagnosis. Additional information is provided in D. Pavan-Langston’s Manual of Ocular Diagnosis and Therapy (5th edition) published by Lippincott Williams & Wilkins in 2002. M.A. Foote wrote Basic Human Genetics for Medical Writers in the AMWA Journal 2002;17:7-17. A compilation such as this might suggest that one gene = one disease. -
Hyperleukocytosis (Re)Visited- Is It Case Series Always Leukaemia: a Report of Two Pathology Section Cases and Review of Literature Short Communication
Review Article Clinician’s corner Original Article Images in Medicine Experimental Research Miscellaneous Letter to Editor DOI: 10.7860/JCDR/2020/40556.13409 Case Report Postgraduate Education Hyperleukocytosis (Re)Visited- Is it Case Series always Leukaemia: A Report of Two Pathology Section Cases and Review of Literature Short Communication ASHUTOSH RATH1, RICHA GUPTA2 ABSTRACT Hyperleukocytosis is defined as total leukocyte count of more than 100×109/L. Commonly seen in leukaemic conditions, non- leukaemic causes are usually not encountered and thought of. We report two such non-malignant cases of hyperleukocytosis. A six-year old girl presented with fever, cough and respiratory distress with a leukocyte count of 125.97×109/L. Another case is of a two-month old female infant, who presented with fever and respiratory distress and a leukocyte count of 112.27×109/L. The present case thrives to highlight various possible causes of hyperleukocytosis with an emphasis on non-malignant causes. Also, important complications and management of hyperleukocytosis are discussed. Keywords: Benign, Leukocytosis, Leukostasis CASE REPORT 1 for methicillin-resistant Staphylococcus aureus and was started A six-year-old girl was admitted with complaints of fever, non- on intravenous Vancomycin along with supportive care. Serial productive cough for one week and severe respiratory distress for monitoring of TLC revealed a gradual reduction and it returned to the the past one day. There was no other significant history. On physical baseline of 15×109/L after eight days. The patient was discharged examination, the patient had mild pallor. Respiratory examination after 10 days of hospital stay. -
Genetic Features of Myelodysplastic Syndrome and Aplastic Anemia in Pediatric and Young Adult Patients
Bone Marrow Failure SUPPLEMENTARY APPENDIX Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients Siobán B. Keel, 1* Angela Scott, 2,3,4 * Marilyn Sanchez-Bonilla, 5 Phoenix A. Ho, 2,3,4 Suleyman Gulsuner, 6 Colin C. Pritchard, 7 Janis L. Abkowitz, 1 Mary-Claire King, 6 Tom Walsh, 6** and Akiko Shimamura 5** 1Department of Medicine, Division of Hematology, University of Washington, Seattle, WA; 2Clinical Research Division, Fred Hutchinson Can - cer Research Center, Seattle, WA; 3Department of Pediatric Hematology/Oncology, Seattle Children’s Hospital, WA; 4Department of Pedi - atrics, University of Washington, Seattle, WA; 5Boston Children’s Hospital, Dana Farber Cancer Institute, and Harvard Medical School, MA; 6Department of Medicine and Department of Genome Sciences, University of Washington, Seattle, WA; and 7Department of Laboratory Medicine, University of Washington, Seattle, WA, USA *SBK and ASc contributed equally to this work **TW and ASh are co-senior authors ©2016 Ferrata Storti Foundation. This is an open-access paper. doi:10.3324/haematol. 2016.149476 Received: May 16, 2016. Accepted: July 13, 2016. Pre-published: July 14, 2016. Correspondence: [email protected] or [email protected] Supplementary materials Supplementary methods Retrospective chart review Patient data were collected from medical records by two investigators blinded to the results of genetic testing. The following information was collected: date of birth, transplant, death, and last follow-up, -
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. -
Oral Sequelae of Chronic Neutrophil Defects: Case Report of A
Case Report Oral sequelaeof chronic neutrophil defects: case report of a child with glycogenstorage diseasetype lb Nancy Dougherty, DMDMary Ann Gataletto, DMD complex group of enzymereactions is respon- tion presently are inconclusive. Various etiologies of sible for the breakdownof the large glycogen neutropenia include abnormal maturation of neutro- A moleculeinto glucose, whichis used by the body phil precursors and reduced release of neutrophils from to maintain blood sugar and provide energy. The glyco- the bone marrow.It is unclear whether either of these is gen storage diseases are a group of inherited disorders responsible for the neutropenia seen in GSDtype lb. involving deficiencies of one or more of the enzymes The importance of transport of glucose into neutrophils necessary to store and metabolize glycogen. Glycogen for chemotaxis has been demonstrated, and this might storage disease (GSD)exists in a variety of forms, each well2 be the etiology for the neutrophil dysfunction. involving different enzyme systems of the glycogen The purpose of this paper is to present, via a report metabolic pathway. of a patient with GSDtype lb, the short- and long-term GSDtype lb is caused by a lack of glucose-6-phos- effects of a chronic neutrophil defect on the phatase (G6P) translocase. This prevents the transport periodontium and oral mucosa. of G6Pacross the endoplasmic reticulum.1 As a result, glycogen cannot be metabolized into glucose and is Casereport deposited in the liver. The modeof genetic transmis- Medicalhistory sion of GSDtype lb is autosomal recessive. It is ex- The patient was an African-American male diag- tremely rare, with an estimated incidence of less than 1 nosed with GSDtype lb at 3 months of age. -
Haematological Abnormalities in Mitochondrial Disorders
Singapore Med J 2015; 56(7): 412-419 Original Article doi: 10.11622/smedj.2015112 Haematological abnormalities in mitochondrial disorders Josef Finsterer1, MD, PhD, Marlies Frank2, MD INTRODUCTION This study aimed to assess the kind of haematological abnormalities that are present in patients with mitochondrial disorders (MIDs) and the frequency of their occurrence. METHODS The blood cell counts of a cohort of patients with syndromic and non-syndromic MIDs were retrospectively reviewed. MIDs were classified as ‘definite’, ‘probable’ or ‘possible’ according to clinical presentation, instrumental findings, immunohistological findings on muscle biopsy, biochemical abnormalities of the respiratory chain and/or the results of genetic studies. Patients who had medical conditions other than MID that account for the haematological abnormalities were excluded. RESULTS A total of 46 patients (‘definite’ = 5; ‘probable’ = 9; ‘possible’ = 32) had haematological abnormalities attributable to MIDs. The most frequent haematological abnormality in patients with MIDs was anaemia. 27 patients had anaemia as their sole haematological problem. Anaemia was associated with thrombopenia (n = 4), thrombocytosis (n = 2), leucopenia (n = 2), and eosinophilia (n = 1). Anaemia was hypochromic and normocytic in 27 patients, hypochromic and microcytic in six patients, hyperchromic and macrocytic in two patients, and normochromic and microcytic in one patient. Among the 46 patients with a mitochondrial haematological abnormality, 78.3% had anaemia, 13.0% had thrombopenia, 8.7% had leucopenia and 8.7% had eosinophilia, alone or in combination with other haematological abnormalities. CONCLUSION MID should be considered if a patient’s abnormal blood cell counts (particularly those associated with anaemia, thrombopenia, leucopenia or eosinophilia) cannot be explained by established causes.