WCN19 Journal Posters Part 3 V1
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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. -
Orphanet Report Series Rare Diseases Collection
Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic -
Mackenzie's Mission Gene & Condition List
Mackenzie’s Mission Gene & Condition List What conditions are being screened for in Mackenzie’s Mission? Genetic carrier screening offered through this research study has been carefully developed. It is focused on providing people with information about their chance of having children with a severe genetic condition occurring in childhood. The screening is designed to provide genetic information that is relevant and useful, and to minimise uncertain and unclear information. How the conditions and genes are selected The Mackenzie’s Mission reproductive genetic carrier screen currently includes approximately 1300 genes which are associated with about 750 conditions. The reason there are fewer conditions than genes is that some genetic conditions can be caused by changes in more than one gene. The gene list is reviewed regularly. To select the conditions and genes to be screened, a committee comprised of experts in genetics and screening was established including: clinical geneticists, genetic scientists, a genetic pathologist, genetic counsellors, an ethicist and a parent of a child with a genetic condition. The following criteria were developed and are used to select the genes to be included: • Screening the gene is technically possible using currently available technology • The gene is known to cause a genetic condition • The condition affects people in childhood • The condition has a serious impact on a person’s quality of life and/or is life-limiting o For many of the conditions there is no treatment or the treatment is very burdensome for the child and their family. For some conditions very early diagnosis and treatment can make a difference for the child. -
Mackenzie's Mission Gene & Condition List
Mackenzie’s Mission Gene & Condition List What conditions are being screened for in Mackenzie’s Mission? Genetic carrier screening offered through this research study has been carefully developed. It is focused on providing people with information about their chance of having children with a severe genetic condition occurring in childhood. The screening is designed to provide genetic information that is relevant and useful, and to minimise uncertain and unclear information. How the conditions and genes are selected The Mackenzie’s Mission reproductive genetic carrier screen currently includes approximately 1300 genes which are associated with about 750 conditions. The reason there are fewer conditions than genes is that some genetic conditions can be caused by changes in more than one gene. The gene list is reviewed regularly. To select the conditions and genes to be screened, a committee comprised of experts in genetics and screening was established including: clinical geneticists, genetic scientists, a genetic pathologist, genetic counsellors, an ethicist and a parent of a child with a genetic condition. The following criteria were developed and are used to select the genes to be included: • Screening the gene is technically possible using currently available technology • The gene is known to cause a genetic condition • The condition affects people in childhood • The condition has a serious impact on a person’s quality of life and/or is life-limiting o For many of the conditions there is no treatment or the treatment is very burdensome for the child and their family. For some conditions very early diagnosis and treatment can make a difference for the child. -
Whole Exome Sequencing Gene Package Intellectual Disability, Version 9.1, 31-1-2020
Whole Exome Sequencing Gene package Intellectual disability, version 9.1, 31-1-2020 Technical information DNA was enriched using Agilent SureSelect DNA + SureSelect OneSeq 300kb CNV Backbone + Human All Exon V7 capture and paired-end sequenced on the Illumina platform (outsourced). The aim is to obtain 10 Giga base pairs per exome with a mapped fraction of 0.99. The average coverage of the exome is ~50x. Duplicate and non-unique 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 A2ML1 {Otitis media, susceptibility to}, 166760 610627 66 100 100 96 AARS1 Charcot-Marie-Tooth disease, axonal, type 2N, 613287 601065 63 100 97 90 Epileptic encephalopathy, early infantile, 29, 616339 AASS Hyperlysinemia, -
(12) Patent Application Publication (10) Pub. No.: US 2016/0281166 A1 BHATTACHARJEE Et Al
US 20160281 166A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2016/0281166 A1 BHATTACHARJEE et al. (43) Pub. Date: Sep. 29, 2016 (54) METHODS AND SYSTEMIS FOR SCREENING Publication Classification DISEASES IN SUBJECTS (51) Int. Cl. (71) Applicant: PARABASE GENOMICS, INC., CI2O I/68 (2006.01) Boston, MA (US) C40B 30/02 (2006.01) (72) Inventors: Arindam BHATTACHARJEE, G06F 9/22 (2006.01) Andover, MA (US); Tanya (52) U.S. Cl. SOKOLSKY, Cambridge, MA (US); CPC ............. CI2O 1/6883 (2013.01); G06F 19/22 Edwin NAYLOR, Mt. Pleasant, SC (2013.01); C40B 30/02 (2013.01); C12O (US); Richard B. PARAD, Newton, 2600/156 (2013.01); C12O 2600/158 MA (US); Evan MAUCELI, (2013.01) Roslindale, MA (US) (21) Appl. No.: 15/078,579 (57) ABSTRACT (22) Filed: Mar. 23, 2016 Related U.S. Application Data The present disclosure provides systems, devices, and meth (60) Provisional application No. 62/136,836, filed on Mar. ods for a fast-turnaround, minimally invasive, and/or cost 23, 2015, provisional application No. 62/137,745, effective assay for Screening diseases, such as genetic dis filed on Mar. 24, 2015. orders and/or pathogens, in Subjects. Patent Application Publication Sep. 29, 2016 Sheet 1 of 23 US 2016/0281166 A1 SSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSS S{}}\\93? sau36 Patent Application Publication Sep. 29, 2016 Sheet 2 of 23 US 2016/0281166 A1 &**** ? ???zzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzz??º & %&&zzzzzzzzzzzzzzzzzzzzzzz &Sssssssssssssssssssssssssssssssssssssssssssssssssssssssss & s s sS ------------------------------ Patent Application Publication Sep. 29, 2016 Sheet 3 of 23 US 2016/0281166 A1 23 25 20 FG, 2. Patent Application Publication Sep. 29, 2016 Sheet 4 of 23 US 2016/0281166 A1 : S Patent Application Publication Sep. -
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. -
Palinopsia in a Patient with a Left Pericalcarine Cavernous Haemangioma
Case report Palinopsia in a patient with a left pericalcarine cavernous haemangioma Marco Curloa, Jovana Popovicb, Riccardo Pignattib, Leonardo Saccob a Rheinburg-Klinik AG, Walzenhausen, Switzerland b Neurocentre of Southern Switzerland, Ospedale Civico, Lugano, Switzerland Funding / potential competing interests: No financial support and no other potential conflict of interest relevant to this article were reported. Summary Case report Background: Palinopsia is the persistence of visual images after removal of We present the case of a 28-year-old man who experienced the exciting stimulus. It is commonly caused by occipital epileptic stati, focal an episode of acute cephalalgia in the left occipital region cerebral lesions, migraine. with no photophobia, phonophobia, osmophobia nor nau- Case: A 28-year-old man experienced two episodes of acute headache sea, but with a progressive loss of vision (an initially puncti- with negative scotoma and palinopsia. All symptoms recovered spontane- form scotoma spreading to the right part of visual field) and ously after one hour but palinopsia still persisted. The MRI showed a a peculiar visual symptom described as the persistence of c avernous haemangioma in the left occipital lobe and the EEG showed o bjects or anatomical details in the visual field lasting a few no sign of epileptic activity, but this data did not exclude an epilepsy. The minutes after looking away, referrable to palinopsia (for f luctuating manner and stereotypy of the symptom was, in fact, attributed e xample the patient kept on seeing the scalp of a friend he to an epileptic aetiology and palinopsia disappeared after initiation of anti- was talking to after looking away from him). -
Measuring Palinopsia: Characteristics of a Persevering Visual Sensation from Cerebral Pathology
Journal of the Neurological Sciences 316 (2012) 184–188 Contents lists available at SciVerse ScienceDirect Journal of the Neurological Sciences journal homepage: www.elsevier.com/locate/jns Short communication Measuring palinopsia: Characteristics of a persevering visual sensation from cerebral pathology S. Van der Stigchel a,⁎, T.C.W. Nijboer a, D.P. Bergsma b, J.J.S. Barton c, C.L.E. Paffen a a Experimental Psychology, Helmholtz Institute, Utrecht University, Utrecht, The Netherlands b UMC Radboud, Nijmegen, The Netherlands c Departments of Medicine (Neurology), and Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, Canada article info abstract Article history: Palinopsia is an abnormal perseverative visual phenomenon, whose relation to normal afterimages is un- Received 4 November 2011 known. We measured palinoptic positive visual afterimages in a patient with a cerebral lesion. Positive after- Received in revised form 24 December 2011 images were confined to the left inferior quadrant, which allowed a comparison between afterimages in the Accepted 6 January 2012 intact and the affected part of his visual field. Results showed that negative afterimages in the affected quad- Available online 27 January 2012 rant were no different from those in the unaffected quadrant. The positive afterimage in his affected field, however, differed both qualitatively and quantitatively from normal afterimages, being weaker but much Keywords: fi Palinopsia more persistent, and displaced from the location of the inducing stimulus. These ndings reveal distinctions Afterimages between pathological afterimages of cerebral origin and physiological afterimages of retinal origin. Visual perseveration © 2012 Elsevier B.V. All rights reserved. 1. Introduction In the present report, we describe the properties of palinopsia in a patient with a known cerebral lesion. -
Access to Orphan Drugs in South Korea : Blind Spot of the Korean Health System
Interim Report Access to Orphan Drugs in South Korea : Blind Spot of the Korean Health System UAEM Korea - 1 - Table of Contents Introduction I. Background A. Epidemiology of rare diseases in Korea B. Characteristics of Orphan Drug Industry in Korea C. Characteristics of Orphan Drug Supply in Korea D. Cases of Supply Failure by Multinational Pharmaceutical Companies E. Case Study: Gleevec F. Case Study: Lipiodol II. Stimulating the production of domestic pharmaceutical companies A. Current Policies that Support the Development of Orphan Drugs in Korea B. Policies that Support the Development of Orphan Drugs in Other Countries C. SWOT Analysis on Domestic Orphan Drug Industry D. Policy Suggestions III. Establishing State-Owned Pharmaceutical Companies A. Rationale B. Public Pharmacy in Foreign Countries C. Discussion on Public Pharmacy in Korea D. Blueprints on Public Pharmacy E. Alternatives Conclusion Appendix I. List of designated rare diseases in Korea II. List of designated orphan drugs in Korea - 2 - Introduction The South Korean government introduced social health insurance in 1977, achieving Universal Health Coverage in 1989. (Kwon, Lee, & Kim, 2015) With 97% of the population under the coverage of national health insurance, the Korean health system meets the health need of the majority of the population. (IQVIA, 2018) Yet, the Korean health system shows weakness in delivering healthcare for minority groups including rare disease patients. Rare disease patients in South Korea have difficulty in accessing orphan drugs - treatments for rare diseases - primarily due to the unstable supply. As pharmaceutical prices in Korea are used as reference prices in other countries, including China, if transnational pharmaceutical companies receive prices lower than what they demand, they often decide not to launch drugs or withdraw from supplying drugs in Korea. -
Visual Perceptual Abnormalities: Hallucinations and Illusions John W
SEMINARS IN NEUROLOGY—VOLUME 20, NO. 1 2000 Visual Perceptual Abnormalities: Hallucinations and Illusions John W. Norton, M.D.* and James J. Corbett, M.D.‡,§ ABSTRACT Visual perceptual abnormalities may be caused by diverse etiologies which span the fields of psychiatry and neurology. This article reviews the differential diagnosis of visual perceptual abnormalities from both a neurological and a psychiatric perspec- tive. Psychiatric etiologies include mania, depression, substance dependence, and schizophrenia. Common neurological causes include migraine, epilepsy, delirium, dementia, tumor, and stroke. The phenomena of palinopsia, oscillopsia, dysmetrop- sia, and polyopia among others are also reviewed. A systematic approach to the many causes of illusions and hallucinations may help to achieve an accurate diag- nosis, and a more focused evaluation and treatment plan for patients who develop visual perceptual abnormalities. This article provides the practicing neurologist with a practical understanding and approach to patients with these clinical symptoms. Keywords: Illusion, hallucination, perceptual abnormalities, oscillopsia, polyopia, diplopia, palinopsia, dysmetropsia, visual allesthesia, visual synthesia, visual dyses- thesia, sensation of environmental tilt, psychiatric, neurological The topic of visual perceptual abnormalities, spe- enable the clinician to understand the phenomenology cifically hallucinations and illusions, spans many fields while diagnosing and treating patients who present with of medicine. The most prominent among these are neu- these problems. rology, ophthalmology, and psychiatry. A wide variety of An illusion is the misperception of a stimulus that is pathological processes can lead to perceptual abnormali- present in the external environment.1 An example is ties. The purpose of this presentation is to review the when an elderly demented individual interprets a chair in neurological and psychiatric differential diagnoses of vi- a poorly lit room as a person.