Annual Highlights of the Resident & Fellow Section: 2016
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Experiences of Rare Diseases: an Insight from Patients and Families
Experiences of Rare Diseases: An Insight from Patients and Families Unit 4D, Leroy House 436 Essex Road London N1 3QP tel: 02077043141 fax: 02073591447 [email protected] www.raredisease.org.uk By Lauren Limb, Stephen Nutt and Alev Sen - December 2010 Web and press design www.raredisease.org.uk WordsAndPeople.com About Rare Disease UK Rare Disease UK (RDUK) is the national alliance for people with rare diseases and all who support them. Our membership is open to all and includes patient organisations, clinicians, researchers, academics, industry and individuals with an interest in rare diseases. RDUK was established by Genetic RDUK is campaigning for a Alliance UK, the national charity strategy for integrated service of over 130 patient organisations delivery for rare diseases. This supporting all those affected by would coordinate: genetic conditions, in conjunction with other key stakeholders | Research in November 2008 following the European Commission’s | Prevention and diagnosis Communication on Rare Diseases: | Treatment and care Europe’s Challenges. | Information Subsequently RDUK successfully | Commissioning and planning campaigned for the adoption of the Council of the European into one cohesive strategy for all Union’s Recommendation on patients affected by rare disease in an action in the field of rare the UK. As well as securing better diseases. The Recommendation outcomes for patients, a strategy was adopted unanimously by each would enable the most effective Member State of the EU (including use of NHS resources. the -
Federal Air Surgeon's
Federal Air Surgeon’s Medical Bulletin Aviation Safety Through Aerospace Medicine 02-4 For FAA Aviation Medical Examiners, Office of Aerospace Medicine U.S. Department of Transportation Winter 2002 Personnel, Flight Standards Inspectors, and Other Aviation Professionals. Federal Aviation Administration Best Practices This article launches Best Practices, a new series of HEADS UP profiles highlighting the shared wisdom of the most A Dean Among Doctors senior of our senior aviation medical examiners. 2 Editorial: Research By Mark Grady Written by one of Dr. Moore’s pilot medical and Aviation Safety General Aviation News certification applicants, this article appeared in the November 22, 2002, issue of General Avia- 3 Certification Issues OCTOR W. DONALD MOORE of tion News. —Ed. and Answers Coats, N.C., knows a lot of pilots 6 Bariatric D— many quite intimately. After Surgery: all, as an Federal Administra- morning just to give medical exams for pilots in the area. How Long tion Aviation Administration- approved medical examiner, He estimates he’s given more to Wait? he’s poked and prodded quite than 12,000 flight physicals a few of them during his more over the past 41 years. 7 Checklist for than 40 years of making sure “I’ve given an average of Pilot they meet the FAA’s physical 300 flight physicals a year since Physical requirements for flying. 1960,” he says, noting those He also knows what it’s like exams have been in addition to fly, because he flew for 40 to running a busy general 8 Palinopsia Case years. medical and obstetrics Report Moore began giving FAA Dr. -
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Number 1 | January 2019 Prevalence and incidence of rare diseases: Bibliographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical order) www.orpha.net www.orphadata.org If a range of national data is available, the average is Methodology calculated to estimate the worldwide or European prevalence or incidence. When a range of data sources is available, the most Orphanet carries out a systematic survey of literature in recent data source that meets a certain number of quality order to estimate the prevalence and incidence of rare criteria is favoured (registries, meta-analyses, diseases. This study aims to collect new data regarding population-based studies, large cohorts studies). point prevalence, birth prevalence and incidence, and to update already published data according to new For congenital diseases, the prevalence is estimated, so scientific studies or other available data. that: Prevalence = birth prevalence x (patient life This data is presented in the following reports published expectancy/general population life expectancy). biannually: When only incidence data is documented, the prevalence is estimated when possible, so that : • Prevalence, incidence or number of published cases listed by diseases (in alphabetical order); Prevalence = incidence x disease mean duration. • Diseases listed by decreasing prevalence, incidence When neither prevalence nor incidence data is available, or number of published cases; which is the case for very rare diseases, the number of cases or families documented in the medical literature is Data collection provided. A number of different sources are used : Limitations of the study • Registries (RARECARE, EUROCAT, etc) ; The prevalence and incidence data presented in this report are only estimations and cannot be considered to • National/international health institutes and agencies be absolutely correct. -
Prolonged Sinus Pauses Revealing a Paroxysmal Extreme Pain Disorder: Is It a Frequent Situation? Case Report
iMedPub Journals INTERNATIONAL ARCHIVES OF MEDICINE 2015 http://journals.imed.pub SECTION: PEDIATRICS Vol. 8 No. 228 ISSN: 1755-7682 doi: 10.3823/1827 Prolonged Sinus Pauses Revealing a Paroxysmal Extreme Pain Disorder: Is it a Frequent Situation? CASE REPORT Sahar Mouram1, Abstract Hicham Sabor2, Ibtissam Fellat1 Title: Paroxysmal extreme pain disorder (PEPD) is an autosomal do- minant painful neuropathy with many, but not all, cases linked to 1 Cardiology B Department, Faculty gain-of-function mutations in SCN9A which encodes voltage-gated of Medicine and Pharmacy, Rabat, sodium channel Na. 1.7. It is a very rare condition featured by flushing Morocco. of the lower half of the body and excruciating burning pain caused 2 Cardiology Department, Military Hospital, Faculty of Medicine and by any stimulus below the waist or in the perianal region. PEPD may Pharmacy, Rabat, Morocco. be associated with cardiovascular instability, especially prolonged sinus pauses, and thus has anesthetic implications. Pacemaker implantation Contact information: is the alternative therapeutic option, but its indications have not been clarified yet. Sahar Mouram. Cardiology B Department. Background: This condition is well described in neurological litera- Address: Faculty of Medicine and ture, but to our knowledge, this is the first case report of a patient Pharmacy, Rabat, Morocco. with paroxysmal extreme pain disorder with prolonged sinus pauses Tel: 00212(0)661630785. requiring anesthesia for an epicardial pacemaker even with the peri- operative risk of the pathology. This clinical observation can help for [email protected] a better management and understanding of the cardiac risk compli- cations of PEPD especially for an infant whose diagnostic is frequently made at the stage of complication This clinical observation can put the item on the necessity of establishing recommendations for mana- gement of cardiac complications during PEPD. -
An International Standard Set of Patient-Centered Outcome Measures After Stroke
Original Contribution An International Standard Set of Patient-Centered Outcome Measures After Stroke Joel Salinas, MD, MBA; Sara M. Sprinkhuizen, PhD, MSc; Teri Ackerson, SCRN, BSN; Julie Bernhardt, PT, PhD; Charlie Davie, MD; Mary G. George, MD, MSPH; Stephanie Gething, Dip COT, MSc; Adam G. Kelly, MD; Patrice Lindsay, RN, PhD; Liping Liu, MD; Sheila C.O. Martins, MD, PhD; Louise Morgan, MSN, CPHQ; Bo Norrving, MD, PhD; Gerard M. Ribbers, MD, PhD; Frank L. Silver, MD; Eric E. Smith, MD, MPH; Linda S. Williams, MD; Lee H. Schwamm, MD Background and Purpose—Value-based health care aims to bring together patients and health systems to maximize the ratio of quality over cost. To enable assessment of healthcare value in stroke management, an international standard set of patient-centered stroke outcome measures was defined for use in a variety of healthcare settings. Methods—A modified Delphi process was implemented with an international expert panel representing patients, advocates, and clinical specialists in stroke outcomes, stroke registers, global health, epidemiology, and rehabilitation to reach consensus on the preferred outcome measures, included populations, and baseline risk adjustment variables. Results—Patients presenting to a hospital with ischemic stroke or intracerebral hemorrhage were selected as the target population for these recommendations, with the inclusion of transient ischemic attacks optional. Outcome categories recommended for assessment were survival and disease control, acute complications, and patient-reported outcomes. Patient-reported outcomes proposed for assessment at 90 days were pain, mood, feeding, selfcare, mobility, communication, cognitive functioning, social participation, ability to return to usual activities, and health-related quality of life, with mobility, feeding, selfcare, and communication also collected at discharge. -
12Th Annual of the American Synesthesia Association, Inc
12th Annual National Meeting of the American Synesthesia Association, Inc. Harvard University Cambridge, Massachusetts October 6 – 8, 2017 Organized and Made Possible by Takao K. Hensch; and the Board Members of the ASA: Greta Berman, Edward M. Hubbard, Lawrence E. Marks, Daphne Maurer, and Carol Steen Harvard University Cambridge, Massachusetts October 6 – 8, 2017 Friday October 6, 2017 EVENING EVENTS 5:00 PM – 6:15 PM At the Door Conference Registration 6:30 PM – 8:30 PM Psyche Loui and Project LENS present: Hearing in Color: Synesthesia and the Musician Free and Open to the Public Psyche Loui, Musician, Neuroscientist; Department of Psychology, Program in Neuroscience & Behavior, Wesleyan University, Middletown, Connecticut Project LENS Co-Founders and Musicians: Ariel Mitnick, Ranier Crosett, Alan Toda-Ambaras, Cambridge, Massachusetts Harvard University Geological Lecture Hall University Museum Room 100 24 Oxford Street, Cambridge, Massachusetts 02138 RECEPTION immediately following Saturday October 7, 2017 Harvard University Geological Lecture Hall University Museum Room 100 7:30 AM – 9:00 AM At the Door ASA Conference Registration until 9:00 AM COFFEE 9:00 AM – 9:15 AM WELCOME Takao K. Hensch, Professor, Molecular and Cellular Biology, Neurology Children’s Hospital, Center for Brain Science, Harvard University Carol Steen, Co-Founder and President American Synesthesia Association Patricia Lynne Duffy, Co-Founder American Synesthesia Association Harvard University Cambridge, Massachusetts October 6 – 8, 2017 Saturday October 7, 2017 continued 9:15 AM – 9:40 AM Joel Salinas Harvard Medical School and Massachusetts General Hospital Is Synesthesia a Gift, a Curse, or a Quirk? 9:40 AM – 10:05 AM Daphne Maurer Daphne Maurer, Julian Ghloum, McMaster University, Hamilton, Ontario, Canada Face Processing in Synesthesia 10:05 AM – 10:30 AM Radhika Gosavi Radhika Gosavi, Edward M. -
The Impact of Systemic Inflammation on Brain Inflammation
cover 28/6/04 12:58 PM Page 1 ISSN 1473-9348 Volume 4 Issue 3 July/August 2004 ACNR Advances in Clinical Neuroscience & Rehabilitation journal reviews • events • management topic • industry news • rehabilitation topic Review Articles: The Impact of Systemic Inflammation on Brain Inflammation; Genetics of Learning Disability Management Topic: Aneurysmal Subarachnoid Haemorrhage Rehabilitation Article: Progression and Correction of Deformities in Adults with Cerebral Palsy www.acnr.co.uk cover 28/6/04 12:58 PM Page 2 Leave gardening to the occasional, untrained volunteer Spend your hard-earned savings on a gardener Just do the gardening yourself Let your pride and joy turn into a jungle ® ropinirole PUT THEIR LIVES BACK IN THEIR HANDS cover 28/6/04 12:58 PM Page 3 REQUIP (ropinirole) Prescribing Information Editorial Board and contributors Presentation ‘ReQuip’ Tablets, PL 10592/0085-0089, each containing ropinirole hydrochloride equivalent to either 0.25, 0.5, 1, 2 or 5 mg Roger Barker is co-editor in chief of Advances in Clinical ropinirole. Starter Pack (105 tablets), £43.12. Follow On Pack (147 tablets), Neuroscience & Rehabilitation (ACNR), and is Honorary Consultant £80.00; 1 mg tablets – 84 tablets, £50.82; 2 mg tablets – 84 tablets, in Neurology at The Cambridge Centre for Brain Repair. He trained £101.64; 5 mg tablets – 84 tablets, £175.56. Indications Treatment of in neurology at Cambridge and at the National Hospital in London. idiopathic Parkinson’s disease. May be used alone (without L-dopa) or in His main area of research is into neurodegenerative and movement addition to L-dopa to control “on-off” fluctuations and permit a reduction in disorders, in particular parkinson's and Huntington's disease. -
2020 Lahiri Et Al Hallucinatory Palinopsia and Paroxysmal Oscillopsia
cortex 124 (2020) 188e192 Available online at www.sciencedirect.com ScienceDirect Journal homepage: www.elsevier.com/locate/cortex Hallucinatory palinopsia and paroxysmal oscillopsia as initial manifestations of sporadic Creutzfeldt-Jakob disease: A case study Durjoy Lahiri a, Souvik Dubey a, Biman K. Ray a and Alfredo Ardila b,c,* a Bangur Institute of Neurosciences, IPGMER and SSKM Hospital, Kolkata, India b Sechenov University, Moscow, Russia c Albizu University, Miami, FL, USA article info abstract Article history: Background: Heidenhain variant of Cruetzfeldt Jacob Disease is a rare phenotype of the Received 4 August 2019 disease. Early and isolated visual symptoms characterize this particular variant of CJD. Reviewed 7 October 2019 Other typical symptoms pertaining to muti-axial neurological involvement usually appear Revised 9 October 2019 in following weeks to months. Commonly reported visual difficulties in Heidenhain variant Accepted 14 November 2019 are visual dimness, restricted field of vision, agnosias and spatial difficulties. We report Action editor Peter Garrard here a case of Heidenhain variant that presented with very unusual symptoms of pal- Published online 13 December 2019 inopsia and oscillopsia. Case presentation: A 62-year-old male patient presented with symptoms of prolonged af- Keywords: terimages following removal of visual stimulus. It was later on accompanied by intermit- Creutzfeldt Jacob disease tent sense of unstable visual scene. He underwent surgery in suspicion of cataratcogenous Heidenhain variant vision loss but with no improvement in symptoms. Additionally he developed symptoms of Oscillopsia cerebellar ataxia, cognitive decline and multifocal myoclonus in subsequent weeks. On the Palinopsia basis of suggestive MRI findings in brain, typical EEG changes and a positive result of 14-3-3 protein in CSF, he was eventually diagnosed as sCJD. -
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery
fphar-07-00121 May 7, 2016 Time: 11:45 # 1 REVIEW published: 10 May 2016 doi: 10.3389/fphar.2016.00121 Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery Paola Imbrici1*, Antonella Liantonio1, Giulia M. Camerino1, Michela De Bellis1, Claudia Camerino2, Antonietta Mele1, Arcangela Giustino3, Sabata Pierno1, Annamaria De Luca1, Domenico Tricarico1, Jean-Francois Desaphy3 and Diana Conte1 1 Department of Pharmacy – Drug Sciences, University of Bari “Aldo Moro”, Bari, Italy, 2 Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari “Aldo Moro”, Bari, Italy, 3 Department of Biomedical Sciences and Human Oncology, University of Bari “Aldo Moro”, Bari, Italy In the human genome more than 400 genes encode ion channels, which are transmembrane proteins mediating ion fluxes across membranes. Being expressed in all cell types, they are involved in almost all physiological processes, including sense perception, neurotransmission, muscle contraction, secretion, immune response, cell proliferation, and differentiation. Due to the widespread tissue distribution of ion channels and their physiological functions, mutations in genes encoding ion channel subunits, or their interacting proteins, are responsible for inherited ion channelopathies. These diseases can range from common to very rare disorders and their severity can be mild, Edited by: disabling, or life-threatening. In spite of this, ion channels are the primary target of only Maria Cristina D’Adamo, University of Perugia, Italy about 5% of the marketed drugs suggesting their potential in drug discovery. The current Reviewed by: review summarizes the therapeutic management of the principal ion channelopathies Mirko Baruscotti, of central and peripheral nervous system, heart, kidney, bone, skeletal muscle and University of Milano, Italy Adrien Moreau, pancreas, resulting from mutations in calcium, sodium, potassium, and chloride ion Institut Neuromyogene – École channels. -
Factors Associated with New-Onset Depression After Stroke
ARTICLES Factors Associated With New-Onset Depression After Stroke Joel Salinas, M.D., M.B.A., Alexa Beiser, Ph.D., Jayandra J. Himali, Ph.D., Jonathan Rosand, M.D., M.Sc., Sudha Seshadri, M.D., Erin C. Dunn, Sc.D., M.P.H. To better identify stroke survivors at risk for depression who may benefit from early prevention through targeted strategies in the acute-subacute poststroke period, we examined 118 Framingham Heart Study stroke survivors with longitudinal prestroke depression assessments. Among those who developed poststroke depression, most lacked a history of depressive symptoms 5 years prior to their stroke. Sex (female), advanced age, and prestroke factors (smoking and functional dependence) were associated with new-onset depression poststroke. These findings suggest fully characterizing and accounting for prestroke factors, including psychosocial and behavioral determinants, may inform the predictive modeling needed to determine whether targeted preventive trials early in stroke recovery will improve stroke outcomes. J Neuropsychiatry Clin Neurosci 2016; 28:286–291; doi: 10.1176/appi.neuropsych.15110388 Poststroke depression has been increasingly recognized as of risk factors for depression unique to stroke. Using the one of the most important consequences of stroke, as de- combination of prestroke factors and cases of new-onset – pression is common and often recurrent,1 3 associated with depression poststroke may help identify those cases where poor outcomes,4 costly,5,6 and difficult to treat given cur- an early empiric antidepressant after stroke or a behavioral rently available treatments.7 The impact of poststroke de- intervention may prevent the development of poststroke pression is perhaps most pronounced as a barrier to recovery depression.14 Candidate risk and protective factors linked to of functional status,8 independence,9 and long term survival poststroke depression have been proposed, though extant – after hospital discharge.10 12 Although antidepressants are studies are limited in three primary ways. -
An International Standard Set of Patient-Centered Outcome Measures After Stroke
An International Standard Set of Patient-Centered Outcome Measures After Stroke Joel Salinas, MD, MBA; Sara M. Sprinkhuizen, PhD, MSc; Teri Ackerson, SCRN, BSN; Julie Bernhardt, PT, PhD; Charlie Davie, MD; Mary G. George, MD, MSPH; Stephanie Gething, Dip COT, MSc; Adam G. Kelly, MD; Patrice Lindsay, RN, PhD; Liping Liu, MD; Sheila C.O. Martins, MD, PhD; Louise Morgan, MSN, CPHQ; Bo Norrving, MD, PhD; Gerard M. Ribbers, MD, PhD; Frank L. Silver, MD; Eric E. Smith, MD, MPH; Linda S. Williams, MD; Lee H. Schwamm, MD Background and Purpose—Value-based health care aims to bring together patients and health systems to maximize the ratio of quality over cost. To enable assessment of healthcare value in stroke management, an international standard set of patient-centered stroke outcome measures was defined for use in a variety of healthcare settings. Downloaded from Methods—A modified Delphi process was implemented with an international expert panel representing patients, advocates, and clinical specialists in stroke outcomes, stroke registers, global health, epidemiology, and rehabilitation to reach consensus on the preferred outcome measures, included populations, and baseline risk adjustment variables. Results—Patients presenting to a hospital with ischemic stroke or intracerebral hemorrhage were selected as the target population for these recommendations, with the inclusion of transient ischemic attacks optional. Outcome categories http://stroke.ahajournals.org/ recommended for assessment were survival and disease control, acute complications, and patient-reported outcomes. Patient-reported outcomes proposed for assessment at 90 days were pain, mood, feeding, selfcare, mobility, communication, cognitive functioning, social participation, ability to return to usual activities, and health-related quality of life, with mobility, feeding, selfcare, and communication also collected at discharge. -
And Late-Onset Inherited Erythromelalgia: Genotype–Phenotype Correlation
doi:10.1093/brain/awp078 Brain 2009: 132; 1711–1722 | 1711 BRAIN A JOURNAL OF NEUROLOGY Early- and late-onset inherited erythromelalgia: genotype–phenotype correlation Chongyang Han,1,2 Sulayman D. Dib-Hajj,1,2 Zhimiao Lin,3 Yan Li,3 Emmanuella M. Eastman,1,2 Lynda Tyrrell,1,2 Xianwei Cao,4 Yong Yang3,* and Stephen G. Waxman1,2,* Downloaded from 1 Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, CT 06510, USA 2 Rehabilitation Research Center, Veterans Affairs Connecticut Healthcare System, West Haven, CT 06516, USA 3 Department of Dermatology, Peking University First Hospital, Beijing 100034, China 4 Department of Dermatology, First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi 33006, China http://brain.oxfordjournals.org *These authors contributed equally to this work. Correspondence to: Stephen G. Waxman, MD, PhD, Department of Neurology, LCI 707, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520-8018, USA E-mail: [email protected] Correspondence may also be addressed to: Yong Yang, MD, PhD Department of Dermatology, at Yale University on July 26, 2010 Peking University First Hospital, No 8 Xishiku Street, Xicheng District, Beijing 100034, China E-mail: [email protected] Inherited erythromelalgia (IEM), an autosomal dominant disorder characterized by severe burning pain in response to mild warmth, has been shown to be caused by gain-of-function mutations of sodium channel Nav1.7 which is preferentially expressed within dorsal root ganglion (DRG) and sympathetic ganglion neurons. Almost all physiologically characterized cases of IEM have been associated with onset in early childhood.