Prevalence and Incidence of Rare Diseases
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Reframing Psychiatry for Precision Medicine
Reframing Psychiatry for Precision Medicine Elizabeth B Torres 1,2,3* 1 Rutgers University Department of Psychology; [email protected] 2 Rutgers University Center for Cognitive Science (RUCCS) 3 Rutgers University Computer Science, Center for Biomedicine Imaging and Modelling (CBIM) * Correspondence: [email protected]; Tel.: (011) +858-445-8909 (E.B.T) Supplementary Material Sample Psychological criteria that sidelines sensory motor issues in autism: The ADOS-2 manual [1, 2], under the “Guidelines for Selecting a Module” section states (emphasis added): “Note that the ADOS-2 was developed for and standardized using populations of children and adults without significant sensory and motor impairments. Standardized use of any ADOS-2 module presumes that the individual can walk independently and is free of visual or hearing impairments that could potentially interfere with use of the materials or participation in specific tasks.” Sample Psychiatric criteria from the DSM-5 [3] that does not include sensory-motor issues: A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive, see text): 1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions. 2. Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication. -
CADASIL Testing
Lab Management Guidelines V1.0.2020 CADASIL Testing MOL.TS.144.A v1.0.2020 Introduction CADASIL 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 NOTCH3 Known Familial Mutation 81403 Analysis NOTCH3 Targeted Sequencing 81406 NOTCH3 Deletion/Duplication Analysis 81479 What is CADASIL Definition CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is an adult-onset form of cerebrovascular disease. There are no generally accepted clinical diagnostic criteria for CADASIL and symptoms vary among affected individuals. Signs and symptoms Typical signs and symptoms include1,2,3 Transient ischemic attacks and ischemic stroke, occurs at a mean age of 47 years (age range 20-70 years), in most cases without conventional vascular risk factors cognitive disturbance, primarily affecting executive function, may start as early as age 35 years psychiatric or behavioral abnormalities migraine with aura, occurs with a mean age of onset of 30 years (age range 6-48 years), and Less common symptoms include: © 2020 eviCore healthcare. All Rights Reserved. 1 of 7 400 Buckwalter Place Boulevard, Bluffton, SC 29910 (800) 918-8924 www.eviCore.com Lab Management Guidelines V1.0.2020 recurrent seizures with onset in middle age, usually secondary to stroke acute encephalopathy, with a mean age of onset of 42 years Life expectancy for men with CADASIL is reduced by approximately five years and for women by 1 to 2 years.4 Diagnosis Brain Magnetic Resonance Imaging (MRI) findings include T2-signal-abnormalities in the white matter of the temporal pole and T2-signal-abnormalities in the external capsule and corpus callosum.1,2 CADASIL is suspected in an individual with the clinical signs and MRI findings. -
Café Au Lait Spots As a Marker of Neuropaediatric Diseases
Mini Review Open Access J Neurol Neurosurg Volume 3 Issue 5 - May 2017 DOI: 10.19080/OAJNN.2017.03.555622 Copyright © All rights are reserved by Francisco Carratalá-Marco Café Au Lait Spots as a Marker of Neuropaediatric Diseases Francisco Carratalá-Marco1*, Rosa María Ruiz-Miralles2, Patricia Andreo-Lillo1, Julia Dolores Miralles-Botella3, Lorena Pastor-Ferrándiz1 and Mercedes Juste-Ruiz2 1Neuropaediatric Unit, University Hospital of San Juan de Alicante, Spain 2Paediatric Department, University Hospital of San Juan de Alicante, Spain 3Dermatology Department, University Hospital of San Juan de Alicante, Spain Submission: March 22, 2017; Published: May 10, 2017 *Corresponding author: Francisco Carratalá-Marco, Neuropaediatric Unit, University Hospital of San Juan de Alicante, Spain, Tel: ; Email: Abstract Introduction: want to know in which The measure,Café au lait the spots presence (CALS) of isolated are shown CALS in representsthe normal a population risk factor forwithout neurological pathological disease. significance, although they could also be criteria for some neurologic syndromes. Unspecific association with general neurologic illnesses has been less frequently described. We Patients and methods: We set up an observational transversal study of cases, patients admitted for neuropaediatric reasons (NPP; n=49) excluding all the patients suffering from neurologic illnesses associated to CALS, and controls, a hospital simultaneously admitted pediatric population for non-neurologic causes (CP; n=101) since October 2012 to January 2013. The data were collected from the clinical reports at admission, and then analyzed by SPSS 22.0 statistical package, and the Stat Calc module of EpiInfo 7.0, following the ethics current rules of the institution for observational studies. -
The National Economic Burden of Rare Disease Study February 2021
Acknowledgements This study was sponsored by the EveryLife Foundation for Rare Diseases and made possible through the collaborative efforts of the national rare disease community and key stakeholders. The EveryLife Foundation thanks all those who shared their expertise and insights to provide invaluable input to the study including: the Lewin Group, the EveryLife Community Congress membership, the Technical Advisory Group for this study, leadership from the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH), the Undiagnosed Diseases Network (UDN), the Little Hercules Foundation, the Rare Disease Legislative Advocates (RDLA) Advisory Committee, SmithSolve, and our study funders. Most especially, we thank the members of our rare disease patient and caregiver community who participated in this effort and have helped to transform their lived experience into quantifiable data. LEWIN GROUP PROJECT STAFF Grace Yang, MPA, MA, Vice President Inna Cintina, PhD, Senior Consultant Matt Zhou, BS, Research Consultant Daniel Emont, MPH, Research Consultant Janice Lin, BS, Consultant Samuel Kallman, BA, BS, Research Consultant EVERYLIFE FOUNDATION PROJECT STAFF Annie Kennedy, BS, Chief of Policy and Advocacy Julia Jenkins, BA, Executive Director Jamie Sullivan, MPH, Director of Policy TECHNICAL ADVISORY GROUP Annie Kennedy, BS, Chief of Policy & Advocacy, EveryLife Foundation for Rare Diseases Anne Pariser, MD, Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health Elisabeth M. Oehrlein, PhD, MS, Senior Director, Research and Programs, National Health Council Christina Hartman, Senior Director of Advocacy, The Assistance Fund Kathleen Stratton, National Academies of Science, Engineering and Medicine (NASEM) Steve Silvestri, Director, Government Affairs, Neurocrine Biosciences Inc. -
EXTENDED CARRIER SCREENING Peace of Mind for Planned Pregnancies
Focusing on Personalised Medicine EXTENDED CARRIER SCREENING Peace of Mind for Planned Pregnancies Extended carrier screening is an important tool for prospective parents to help them determine their risk of having a child affected with a heritable disease. In many cases, parents aren’t aware they are carriers and have no family history due to the rarity of some diseases in the general population. What is covered by the screening? Genomics For Life offers a comprehensive Extended Carrier Screening test, providing prospective parents with the information they require when planning their pregnancy. Extended Carrier Screening has been shown to detect carriers who would not have been considered candidates for traditional risk- based screening. With a simple mouth swab collection, we are able to test for over 419 genes associated with inherited diseases, including Fragile X Syndrome, Cystic Fibrosis and Spinal Muscular Atrophy. The assay has been developed in conjunction with clinical molecular geneticists, and includes genes listed in the NIH Genetic Test Registry. For a list of genes and disorders covered, please see the reverse of this brochure. If your gene of interest is not covered on our Extended Carrier Screening panel, please contact our friendly team to assist you in finding a gene test panel that suits your needs. Why have Extended Carrier Screening? Extended Carrier Screening prior to pregnancy enables couples to learn about their reproductive risk and consider a complete range of reproductive options, including whether or not to become pregnant, whether to use advanced reproductive technologies, such as preimplantation genetic diagnosis, or to use donor gametes. -
EFFECTIVE NEBRASKA DEPARTMENT of 01/01/2017 HEALTH and HUMAN SERVICES 173 NAC 1 I TITLE 173 COMMUNICABLE DISEASES CHAPTER 1
EFFECTIVE NEBRASKA DEPARTMENT OF 01/01/2017 HEALTH AND HUMAN SERVICES 173 NAC 1 TITLE 173 COMMUNICABLE DISEASES CHAPTER 1 REPORTING AND CONTROL OF COMMUNICABLE DISEASES TABLE OF CONTENTS SECTION SUBJECT PAGE 1-001 SCOPE AND AUTHORITY 1 1-002 DEFINITIONS 1 1-003 WHO MUST REPORT 2 1-003.01 Healthcare Providers (Physicians and Hospitals) 2 1-003.01A Reporting by PA’s and APRN’s 2 1-003.01B Reporting by Laboratories in lieu of Physicians 3 1-003.01C Reporting by Healthcare Facilities in lieu of Physicians for 3 Healthcare Associated Infections (HAIs) 1-003.02 Laboratories 3 1-003.02A Electronic Ordering of Laboratory Tests 3 1-004 REPORTABLE DISEASES, POISONINGS, AND ORGANISMS: 3 LISTS AND FREQUENCY OF REPORTS 1-004.01 Immediate Reports 4 1-004.01A List of Diseases, Poisonings, and Organisms 4 1-004.01B Clusters, Outbreaks, or Unusual Events, Including Possible 5 Bioterroristic Attacks 1-004.02 Reports Within Seven Days – List of Reportable Diseases, 5 Poisonings, and Organisms 1-004.03 Reporting of Antimicrobial Susceptibility 8 1-004.04 New or Emerging Diseases and Other Syndromes and Exposures – 8 Reporting and Submissions 1-004.04A Criteria 8 1-004.04B Surveillance Mechanism 8 1-004.05 Sexually Transmitted Diseases 9 1-004.06 Healthcare Associated Infections 9 1-005 METHODS OF REPORTING 9 1-005.01 Health Care Providers 9 1-005.01A Immediate Reports of Diseases, Poisonings, and Organisms 9 1-005.01B Immediate Reports of Clusters, Outbreaks, or Unusual Events, 9 Including Possible Bioterroristic Attacks i EFFECTIVE NEBRASKA DEPARTMENT OF -
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 -
Cadasil Pathogenesis, Clinical and Radiological Findings and Treatment
View and review Arq Neuropsiquiatr 2010;68(2):287-299 Cadasil Pathogenesis, clinical and radiological findings and treatment Charles André ABSTRACT Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common genetic cause of ischemic strokes and a most important model for the study of subcortical vascular dementia. This unrelentlessly progressive disease affects many hundreds of families all over the world but is not well studied in Brazil. This manuscript reviews pathogenetic, clinical, radiological and therapeutic features of CADASIL. The causal mutations are now very well known, but the same can not be said about its intimate pathogenetic mechanisms. The variable clinical presentation should lead physicians to actively pursue the diagnosis in many settings and to more thouroughly investigate family history in first degree relatives. A rational approach to genetic testing is however needed. Treatment of CADASIL is still largely empiric. High- quality therapeutic studies involving medications and cognitive interventions are strongly needed in CADASIL. Key words: CADASIL, etiology, genetics, diagnosis, therapeutics. CADASIL: patogênese, achados clínicos e radiológicos e tratamento RESUMO CADASIL é a causa genética mais freqüente de infartos cerebrais e constitui modelo importante de estudo de demências vasculares subcorticais. De natureza inexoravelmente progressiva, afeta milhares de pessoas em todo o mundo. Sua importância é pouco reconhecida entre nós, o que nos levou à presente revisão dos principais aspectos patogenéticos, clínicos, neuroradiológicos e terapêuticos da doença. As mutações causais são hoje bem conhecidas, mas os mecanismos patogenéticos íntimos ainda permanecem misteriosos. A apresentação clínica variável deve fazer com que os médicos considerem o diagnóstico em vários contextos clínicos e investiguem de forma mais extensa que o usual a história familial deparentes de primeiro grau. -
Erythrokeratodermia Variabilis Et Progressiva Allelic to Oculo-Dento
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector COMMENTARY See related article on pg 1540 translocated into the plasma membrane. Once expressed on the cell surface, the hemichannel docks with a connexon of an adjacent cell to form a channel that Erythrokeratodermia Variabilis et is termed gap junction. Connexons can form either homotypic (docking of two Progressiva Allelic to Oculo-Dento- identical connexons), heterotypic (docking of two dissimilar homomeric Digital Dysplasia connexons), or heteromeric (docking of two heteromeric connexons) channels Sabine Duchatelet1,2 and Alain Hovnanian1,2,3 (Mese et al., 2007). These diverse Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with combinations of connexins create clinical and genetic heterogeneity, most often transmitted in an autosomal different types of channels, each having dominant manner, caused by mutations in GJB3 and GJB4 genes encoding unique properties (ionic conductance, connexins (Cx)31 and 30.3, respectively. In this issue, Boyden et al. (2015) report permeability, sensitivity to voltage, or for the first time de novo dominant mutations in GJA1 encoding the ubiquitous pH). Of note, several connexins may also Cx43 in patients with EKVP. These results expand the genetic heterogeneity of form functional nonjunctional hemi- EKVP and the human disease phenotypes associated with GJA1 mutations. They channels, although their physiological disclose that EKVP is allelic to oculo-dento-digital dysplasia, a rare syndrome relevance remains uncertain (Pfenniger previously known to be caused by dominant GJA1 mutations. et al., 2010). Mutations in 11 connexin genes cause a variety of genetic dis- Journal of Investigative Dermatology (2015) 135, 1475–1478. -
Sema4 Noninvasive Prenatal Select
Sema4 Noninvasive Prenatal Select Noninvasive prenatal testing with targeted genome counting 2 Autosomal trisomies 5 Trisomy 21 (Down syndrome) 6 Trisomy 18 (Edwards syndrome) 7 Trisomy 13 (Patau syndrome) 8 Trisomy 16 9 Trisomy 22 9 Trisomy 15 10 Sex chromosome aneuploidies 12 Monosomy X (Turner syndrome) 13 XXX (Trisomy X) 14 XXY (Klinefelter syndrome) 14 XYY 15 Microdeletions 17 22q11.2 deletion 18 1p36 deletion 20 4p16 deletion (Wolf-Hirschhorn syndrome) 20 5p15 deletion (Cri-du-chat syndrome) 22 15q11.2-q13 deletion (Angelman syndrome) 22 15q11.2-q13 deletion (Prader-Willi syndrome) 24 11q23 deletion (Jacobsen Syndrome) 25 8q24 deletion (Langer-Giedion syndrome) 26 Turnaround time 27 Specimen and shipping requirements 27 2 Noninvasive prenatal testing with targeted genome counting Sema4’s Noninvasive Prenatal Testing (NIPT)- Targeted Genome Counting analyzes genetic information of cell-free DNA (cfDNA) through a simple maternal blood draw to determine the risk for common aneuploidies, sex chromosomal abnormalities, and microdeletions, in addition to fetal gender, as early as nine weeks gestation. The test uses paired-end next-generation sequencing technology to provide higher depth across targeted regions. It also uses a laboratory-specific statistical model to help reduce false positive and false negative rates. The test can be offered to all women with singleton, twins and triplet pregnancies, including egg donor. The conditions offered are shown in below tables. For multiple gestation pregnancies, screening of three conditions -
RD-Action Matchmaker – Summary of Disease Expertise Recorded Under
Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping Thematic Reported expertise of those completing the EURORDIS Member perspectives on Grouping matchmaker under each heading Grouping RD Thematically Rare Bone Achondroplasia/Hypochondroplasia Achondroplasia Amelia skeletal dysplasia’s including Achondroplasia/Growth hormone cleidocranial dysostosis, arthrogryposis deficiency/MPS/Turner Brachydactyly chondrodysplasia punctate Fibrous dysplasia of bone Collagenopathy and oncologic disease such as Fibrodysplasia ossificans progressive Li-Fraumeni syndrome Osteogenesis imperfecta Congenital hand and fore-foot conditions Sterno Costo Clavicular Hyperostosis Disorders of Sex Development Duchenne Muscular Dystrophy Ehlers –Danlos syndrome Fibrodysplasia Ossificans Progressiva Growth disorders Hypoparathyroidism Hypophosphatemic rickets & Nutritional Rickets Hypophosphatasia Jeune’s syndrome Limb reduction defects Madelung disease Metabolic Osteoporosis Multiple Hereditary Exostoses Osteogenesis imperfecta Osteoporosis Paediatric Osteoporosis Paget’s disease Phocomelia Pseudohypoparathyroidism Radial dysplasia Skeletal dysplasia Thanatophoric dwarfism Ulna dysplasia Rare Cancer and Adrenocortical tumours Acute monoblastic leukaemia Tumours Carcinoid tumours Brain tumour Craniopharyngioma Colon cancer, familial nonpolyposis Embryonal tumours of CNS Craniopharyngioma Ependymoma Desmoid disease Epithelial thymic tumours in -
DIAGNOSIS and TREATMENT of BRUCELLOSIS (Undulant Fever)
DIAGNOSIS AND TREATMENT OF BRUCELLOSIS (Undulant Fever) CHARLES L. HARTSOCK, M.D. Not only the treatment but also the diagnosis of undulant fever are far from being satisfactory, although many types of therapy are being tried and critically evaluated. Because of the tremendous scope of the disease, frequent discussions and reappraisals of our ideas about bru- cellosis will be absolutely essential for some time. Some physicians more or less disregard brucellosis and even scoff at the chronic phase of this new intruder in the realm of human disease. Others are overenthusi- astic and attempt to explain many vague and indefinite problems upon the basis of chronic brucellosis without sufficient evidence. Still other physicians have lost their original enthusiasm and have reverted to the first viewpoint, probably because of the great difficulty in coping with the caprices and vagaries of this disease and the marked uncertainties in diagnosis and treatment. Even though this disease is extremely protean and remarkably bizarre in its manifestations, it is a disease of known causative organism to which the generic term of brucella has been given. The original infection in man was traced to the drinking of goat's milk on the Island of Malta, and for many years this disease was known as Malta fever. Because of the undulating character of the fever with a tendency for remissions and recurrences, it was later called undulant fever which proved to be a very poor description of the febrile reaction in many instances. Brucellosis is the more specific term derived from the organism causing the disease. Three strains of the brucella organism have been isolated and named for their respective hosts: b.