Guiding Medical Accession Standards for the Commissioned Corps of the U.S
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
PGD: a Celebration of 20 Years
PGD: A Celebration of 20 years: What is Reality and What is Not? Roma June 30, 2010 Mark Hughes, M.D., Ph.D . Professor of Genetics, Internal Medicine, Pathology Director, Genesis Genetics Institute Director, State of Michigan Genomic Technology Center Reality – (Three obvious ones) PGD • Has led to the birth of thousands of healthy children to very desperate, genetically at-risk couples. • Remains at the very limit of medical diagnostic testing • The technology continues to improve - – but it is not reality to think PGD will ever have a 0% false positive or false negative rate Reality: We still do not know What is best to biopsy, and when? Polar Body Blastomere Trophoectoderm Variation in Biopsy Skill Clinic Biopsies +HCG / ET 1 314 17% 2 427 26% 3 181 12% 4 712 31% Reality: We all are controversial • PGD has raised international controversy – How is it bioethically different from Prenatal Testing? – Who should control the use of these technologies? – Should there be government PGD testing standards? • What is the difference between a Disease and a Trait - and who decides? PGD Disorders (A, B, C) • ACHONDROPLASIA (FGFR) • BARTH DILIATED CARDIOMYOPATHY • ACTIN-NEMALIN MYOPATHY (ACTA) • BETA THALASSEMIA (HBB) • ADRENOLEUKODYSTROPHY (ABCD) • BLOOM SYNDROME • AGAMMAGLOBULINEMIA-BRUTON (TYKNS) • BREAST CANCER (BRCA1 & 2) • ALAGILLE SYNDROME (JAG) • CACH-ATAXIA (EIFB) • ALDOLASE A, FRUCTOSE-BISPHOSPHATE • CADASIL (NOTCH) • ALPHA THALASSEMIA (HBA) • CANAVAN DISEASE (ASPA) • ALPHA-ANTITRYPSIN (AAT) • CARNITINE-ACYLCARN TRANSLOCASE • ALPORT SYNDROME -
Diagnosis and Treatment of Perianal Crohn Disease: NASPGHAN Clinical Report and Consensus Statement
CLINICAL REPORT Diagnosis and Treatment of Perianal Crohn Disease: NASPGHAN Clinical Report and Consensus Statement ÃEdwin F. de Zoeten, zBrad A. Pasternak, §Peter Mattei, ÃRobert E. Kramer, and yHoward A. Kader ABSTRACT disease. The first description connecting regional enteritis with Inflammatory bowel disease is a chronic inflammatory disorder of the perianal disease was by Bissell et al in 1934 (2), and since that time gastrointestinal tract that includes both Crohn disease (CD) and ulcerative perianal disease has become a recognized entity and an important colitis. Abdominal pain, rectal bleeding, diarrhea, and weight loss consideration in the diagnosis and treatment of CD. Perianal characterize both CD and ulcerative colitis. The incidence of IBD in the Crohn disease (PCD) is defined as inflammation at or near the United States is 70 to 150 cases per 100,000 individuals and, as with other anus, including tags, fissures, fistulae, abscesses, or stenosis. autoimmune diseases, is on the rise. CD can affect any part of the The symptoms of PCD include pain, itching, bleeding, purulent gastrointestinal tract from the mouth to the anus and frequently will include discharge, and incontinence of stool. perianal disease. The first description connecting regional enteritis with perianal disease was by Bissell et al in 1934, and since that time perianal INCIDENCE AND NATURAL HISTORY disease has become a recognized entity and an important consideration in the Limited pediatric data describe the incidence and prevalence diagnosis and treatment of CD. Perianal Crohn disease (PCD) is defined as of PCD. The incidence of PCD in the pediatric age group has been inflammation at or near the anus, including tags, fissures, fistulae, abscesses, estimated to be between 13.6% and 62% (3). -
Plugs for Anal Fistula Repair Original Policy Date: November 26, 2014 Effective Date: January 1, 2021 Section: 7.0 Surgery Page: Page 1 of 12
Medical Policy 7.01.123 Plugs for Anal Fistula Repair Original Policy Date: November 26, 2014 Effective Date: January 1, 2021 Section: 7.0 Surgery Page: Page 1 of 12 Policy Statement Biosynthetic fistula plugs, including plugs made of porcine small intestine submucosa or of synthetic material, are considered investigational for the repair of anal fistulas. NOTE: Refer to Appendix A to see the policy statement changes (if any) from the previous version. Policy Guidelines There is a specific CPT code for the use of these plugs in the repair of an anorectal fistula: • 46707: Repair of anorectal fistula with plug (e.g., porcine small intestine submucosa [SIS]) Description Anal fistula plugs (AFPs) are biosynthetic devices used to promote healing and prevent the recurrence of anal fistulas. They are proposed as an alternative to procedures including fistulotomy, endorectal advancement flaps, seton drain placement, and use of fibrin glue in the treatment of anal fistulas. Related Policies • N/A Benefit Application Benefit determinations should be based in all cases on the applicable contract language. To the extent there are any conflicts between these guidelines and the contract language, the contract language will control. Please refer to the member's contract benefits in effect at the time of service to determine coverage or non-coverage of these services as it applies to an individual member. Some state or federal mandates (e.g., Federal Employee Program [FEP]) prohibits plans from denying Food and Drug Administration (FDA)-approved technologies as investigational. In these instances, plans may have to consider the coverage eligibility of FDA-approved technologies on the basis of medical necessity alone. -
Associated Palmoplantar Keratoderma
DR ABIGAIL ZIEMAN (Orcid ID : 0000-0001-8236-207X) Article type : Review Article Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: New insight into skin epithelial homeostasis and avenues for treatment Authors: A. G. Zieman1 and P. A. Coulombe1,2 # Affiliations: 1Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI 48109, USA; 2Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI 48109, USA #Corresponding author: Pierre A. Coulombe, PhD, 3071 Biomedical Sciences Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109, USA. Tel: 734-615-7509. Email: [email protected]. Funding Sources: These studies were supported by grant AR044232 issued to P.A.C. from the National Institute of Arthritis, Musculoskeletal and Skin Disease (NIAMS). A.G.Z. received support from grant T32 CA009110 from the National Cancer Institute. Author Manuscript This is the author manuscript accepted for publication and has undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1111/BJD.18033 This article is protected by copyright. All rights reserved Conflict of interest disclosures: None declared. Bulleted statements: What’s already known about this topic? Pachyonychia congenita is a rare genodermatosis caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, KRT17, which are normally expressed in skin appendages and induced following injury. Individuals with PC present with multiple clinical symptoms that usually include thickened and dystrophic nails, palmoplantar keratoderma (PPK), glandular cysts, and oral leukokeratosis. -
Statin Myopathy: a Common Dilemma Not Reflected in Clinical Trials
REVIEW CME EDUCATIONAL OBJECTIVE: Readers will assess possible statin-induced myopathy in their patients on statins CREDIT GENARO FERNANDEZ, MD ERICA S. SPATZ, MD CHARLES JABLECKI, MD PAUL S. PHILLIPS, MD Internal Medicine Residency Program, Robert Wood Johnson Clinical Scholars Department of Neurosciences, University Director, Interventional Cardiology, The University of Utah, Salt Lake City Program, Cardiovascular Disease Fellow, of California San Diego, La Jolla Department of Cardiology, Scripps Mercy Yale University School of Medicine, New Hospital, San Diego, CA Haven, CT Statin myopathy: A common dilemma not reflected in clinical trials ■■ ABSTRACT hen a patient taking a statin complains Wof muscle aches, is he or she experiencing Although statins are remarkably effective, they are still statin-induced myopathy or some other prob- underprescribed because of concerns about muscle toxic- lem? Should statin therapy be discontinued? Statins have proven efficacy in preventing ity. We review the aspects of statin myopathy that are 1 important to the primary care physician and provide a heart attacks and death, and they are the most guide for evaluating patients on statins who present with widely prescribed drugs worldwide. Neverthe- less, they remain underused, with only 50% of muscle complaints. We outline the differential diagnosis, those who would benefit from being on a statin the risks and benefits of statin therapy in patients with receiving one.2,3 In addition, at least 25% of possible toxicity, and the subsequent treatment options. adults who start taking statins stop taking them 4 ■■ by 6 months, and up to 60% stop by 2 years. KEY POINTS Patient and physician fears about myopathy There is little consensus on the definition of statin-in- remain a key reason for stopping. -
Surgery for Colon and Rectal Cancer
Colon and Rectal Surgery Mohammed Bayasi, MD Department of Surgery Colon and Rectal Surgery What is a Colon and Rectal Surgeon? • Fully trained General Surgeon. • Has done additional training in the diseases of colon and rectum. Why Colon and Rectal Surgery? • Surgical and non surgical therapy for multiple diseases. • Chance to help cancer patients by removing tumor, potentially curing them. • Variety of cases, ages and patient populations. • Specialized area. Colorectal Diseases • Colon • Rectum/Anus – Cancer – Hemorrhoids – Diverticulitis – Anal fistula and – Inflammatory Bowel abscess Disease (Crohn, UC) – Anal fissure – Polyps – Prolapse Symptoms/Signs • Pain • Itching • Discharge • Bleeding • Lump Anatomy Lesson Colon • Extracts water and nutrients. • Helps to form and excrete waste. • Stores important bacteria flora. • Length: 1.5 meters long = 4.9 feet = 59 inches Colon Rectum/Anus • The final portion of the colon. • Area contains muscles important in controlling defecation and flatulence. Rectum/Anus When to see a Colon and Rectal Surgeon • Referral from another physician (Gastroenterology, PCP). • Treatment of anorectal diseases. • Blood with stool, abdominal pain, rectal pain. Hemorrhoids • Internal and external. • Cushions of blood vessels. • When enlarged, they cause bleeding and pain. Treatment • Treatment of symptomatic hemorrhoids is directed by the symptoms themselves. It can broadly be categorized into four groups: − Medical therapy − Office-based procedure − Operative therapies − Emergent interventions Anorectal Abscess • It is a collection of pus in the perianal area. Normal • Causes pain and rectal gland drainage, and if it progresses, fever and systemic Abscess infection. • Treated with incision and drainage. Anorectal Fistula • A tunnel between the inside of the anus and the skin. • Causes discharge, pain, and formation of abscess. -
Common Anorectal Conditions
TurkJMedSci 34(2004)285-293 ©TÜB‹TAK PERSPECTIVESINMEDICALSCIENCES CommonAnorectalConditions PravinJ.GUPTA ConsultingProctologistGuptaNursingHome,D/9,Laxminagar,NAGPUR-440022INDIA Received:July12,2004 Anorectaldisordersincludeadiversegroupof dentateorpectinatelinedividesthesquamousepithelium pathologicdisordersthatgeneratesignificantpatient fromthemucosalorcolumnarepithelium.Fourtoeight discomfortanddisability.Althoughthesearefrequently analglandsdrainintothecryptsofMorgagniatthelevel encounteredingeneralmedicalpractice,theyoften ofthedentateline.Mostrectalabscessesandfistulae receiveonlycasualattentionandtemporaryrelief . originateintheseglands.Thedentatelinealsodelineates Diseasesoftherectumandanusarecommon theareawheresensoryfibersend.Abovethedentate phenomena.Theirprevalenceinthegeneralpopulationis line,therectumissuppliedbystretchnervefibers,and probablymuchhigherthanthatseeninclinicalpractice, notpainnervefibers.Thisallowsmanysurgical sincemostpatientswithsymptomsreferabletothe procedurestobeperformedwithoutanesthesiaabovethe anorectumdonotseekmedicalattention. dentateline.Conversely,belowthedentateline,thereis extremesensitivity,andtheperianalareaisoneofthe Asdoctorsoffirstcontact,general(family) mostsensitiveareasofthebody.Theevacuationofbowel practitioners(GPs)frequentlyfacedifficultquestions contentsdependsonactionbythemusclesofboththe concerningtheoptimummanagementofanorectal involuntaryinternalsphincterandthevoluntaryexternal symptoms.Whiletheexaminationanddiagnosisof sphincter. certainanorectaldisorderscanbechallenging,itisa -
Crohn's Disease of the Anal Region
Gut: first published as 10.1136/gut.6.6.515 on 1 December 1965. Downloaded from Gut, 1965, 6, 515 Crohn's disease of the anal region B. K. GRAY, H. E. LOCKHART-MUMMERY, AND B. C. MORSON From the Research Department, St. Mark's Hospital, London EDITORIAL SYNOPSIS This paper records for the first time the clinico-pathological picture of Crohn's disease affecting the anal canal. It has long been recognized that anal lesions may precede intestinal Crohn's disease, often by some years, but the specific characteristics of the lesion have not hitherto been described. The differential diagnosis is discussed in detail. In a previous report from this hospital (Morson and types of anal lesion when the patients were first seen Lockhart-Mummery, 1959) the clinical features and were as follows: pathology of the anal lesions of Crohn's disease were described. In that paper reference was made to Anal fistula, single or multiple .............. 13 several patients with anal fissures or fistulae, biopsy Anal fissures ........... ......... 3 of which showed a sarcoid reaction, but in whom Anal fissure and fistula .................... 3 there was no clinical or radiological evidence of Total 19 intra-abdominal Crohn's disease. The opinion was expressed that some of these patients might later The types of fistula included both low level and prove to have intestinal pathology. This present complex high level varieties. The majority had the contribution is a follow-up of these cases as well as clinical features described previously (Morson and of others seen subsequently. Lockhart-Mummery, 1959; Lockhart-Mummery Involvement of the anus in Crohn's disease has and Morson, 1964) which suggest Crohn's disease, http://gut.bmj.com/ been seen at this hospital in three different ways: that is, the lesions had an indolent appearance with 1 Patients who presented with symptoms of irregular undermined edges and absence of indura- intestinal Crohn's disease who, at the same time, ation. -
WES Gene Package Multiple Congenital Anomalie.Xlsx
Whole Exome Sequencing Gene package Multiple congenital anomalie, version 5, 1‐2‐2018 Technical information DNA was enriched using Agilent SureSelect Clinical Research Exome V2 capture and paired‐end sequenced on the Illumina platform (outsourced). The aim is to obtain 8.1 Giga base pairs per exome with a mapped fraction of 0.99. The average coverage of the exome is ~50x. Duplicate reads are excluded. Data are demultiplexed with bcl2fastq Conversion Software from Illumina. Reads are mapped to the genome using the BWA‐MEM algorithm (reference: http://bio‐bwa.sourceforge.net/). Variant detection is performed by the Genome Analysis Toolkit HaplotypeCaller (reference: http://www.broadinstitute.org/gatk/). The detected variants are filtered and annotated with Cartagenia software and classified with Alamut Visual. It is not excluded that pathogenic mutations are being missed using this technology. At this moment, there is not enough information about the sensitivity of this technique with respect to the detection of deletions and duplications of more than 5 nucleotides and of somatic mosaic mutations (all types of sequence changes). HGNC approved Phenotype description including OMIM phenotype ID(s) OMIM median depth % covered % covered % covered gene symbol gene ID >10x >20x >30x A4GALT [Blood group, P1Pk system, P(2) phenotype], 111400 607922 101 100 100 99 [Blood group, P1Pk system, p phenotype], 111400 NOR polyagglutination syndrome, 111400 AAAS Achalasia‐addisonianism‐alacrimia syndrome, 231550 605378 73 100 100 100 AAGAB Keratoderma, palmoplantar, -
SUPPLEMENTARY MATERIAL Supplementary 1. International
SUPPLEMENTARY MATERIAL Supplementary 1. International Myositis Classification Criteria Project Steering Committee Supplementary 2. Pilot study Supplementary 3. International Myositis Classification Criteria Project questionnaire Supplementary 4. Glossary and definitions for the International Myositis Classification Criteria Project questionnaire Supplementary 5. Adult comparator cases in the International Myositis Classification Criteria Project dataset Supplementary 6. Juvenile comparator cases in the International Myositis Classification Criteria Project dataset Supplementary 7. Validation cohort from the Euromyositis register Supplementary 8. Validation cohort from the Juvenile dermatomyositis cohort biomarker study and repository (UK and Ireland) 1 Supplementary 1. International Myositis Classification Criteria Project Steering Committee Name Affiliation Lars Alfredsson Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden Anthony A Amato Department of Neurology, Brigham and Women’s Hospital, Harvard Medical School, Boston, USA Richard J Barohn Department of Neurology, University of Kansas Medical Center, Kansas City, USA Matteo Bottai Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden Matthew H Liang Division of Rheumatology, Immunology and Allergy, Brigham and Women´s Hospital, Boston, USA Ingrid E Lundberg (Project Director) Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Solna, Karolinska Institutet, Stockholm, Sweden Frederick W Miller Environmental -
EM Guidemap - Myopathy and Myoglobulinuria
myopathy EM guidemap - Myopathy and myoglobulinuria Click on any of the headings or subheadings to rapidly navigate to the relevant section of the guidemap Introduction General principles ● endocrine myopathy ● toxic myopathy ● periodic paralyses ● myoglobinuria Introduction - this short guidemap supplements the neuromuscular weakness guidemap and offers the reader supplementary information on myopathies, and a short section on myoglobulinuria - this guidemap only consists of a few brief checklists of "causes of the different types of myopathy" that an emergency physician may encounter in clinical practice when dealing with a patient with acute/subacute muscular weakness General principles - a myopathy is suggested when generalized muscle weakness involves large proximal muscle groups, especially around the shoulder and proximal girdle, and when the diffuse muscle weakness is associated with normal tendon reflexes and no sensory findings - a simple classification of myopathy:- Hereditary ● muscular dystrophies ● congenital myopathies http://www.homestead.com/emguidemaps/files/myopathy.html (1 of 13)8/20/2004 5:14:27 PM myopathy ● myotonias ● channelopathies (periodic paralysis syndromes) ● metabolic myopathies ● mitochondrial myopathies Acquired ● inflammatory myopathy ● endocrine myopathies ● drug-induced/toxic myopathies ● myopathy associated with systemic illness - a myopathy can present with fixed weakness (muscular dystrophy, inflammatory myopathy) or episodic weakness (periodic paralysis due to a channelopathy, metabolic myopathy -
Connective Tissue 5.2.04
Other Connective Tissue Diseases Chester V. Oddis, MD Thomas A. Medsger, Jr, MD Arthur Weinstein, MD Contents 1. Undifferentiated Connective Tissue Disease 2. Idiopathic Inflammatory Myopathy 3. Scleroderma 4. Sjögren’s Syndrome 5. References OTHER CONNECTIVE TISSUE DISEASES 1 1. Undifferentiated Connective Tissue Disease Table 1 The American College of Rheumatology (ACR) has published criteria for several different diseases Clinical Features and Autoantibody Findings commonly referred to as connective tissue disease Possibly Specific for a Defined CTD (CTD). The primary aim of such classification crite - ria is to ensure the comparability among CTD stud - ies in the scientific community. These diseases Clinical Feature include rheumatoid arthritis (RA), systemic sclero - sis (SSc), systemic lupus erythematosus (SLE), Malar rash polymyositis (PM), dermatomyositis (DM), and Sjögren’s syndrome (SS). These are systemic Subacute cutaneous lupus rheumatic diseases which reflects their inflamma - tory nature and protean clinical manifestations with Sclerodermatous skin changes resultant tissue injury. Although there are unifying immunologic features that pathogenetically tie Heliotrope rash these separate CTDs to each other, the individual disorders often remain clinically and even serologi - Gottron’s papules cally distinct. Immunogenetic data and autoanti - body findings in the different CTDs lend further Erosive arthritis support for their distinctive identity and often serves to subset the individual CTD even further, as seen with the myositis syndromes, SLE and SSc. In other cases, it remains difficult to classify individuals Autoantibody with a combination of signs, symptoms, and labora - tory test results. It is this group of patients that have Anti-dsDNA an “undifferentiated” connective tissue disease (UCTD), or perhaps more accurately, an undifferen - Anti-Sm tiated systemic rheumatic disease.