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Childhood Cerebral X-Linked Adrenoleukodystrophy with Atypical Neuroimaging Abnormalities and a No…
9/28/2018 Journal of Postgraduate Medicine: Childhood cerebral X-linked adrenoleukodystrophy with atypical neuroimaging abnormalities and a no… Open access journal indexed with Index Medicus & EMBASE Home | Subscribe | Feedback [Download PDF] CASE REPORT Year : 2018 | Volume : 64 | Issue : 1 | Page : 59-63 Childhood cerebral X-linked adrenoleukodystrophy with atypical neuroimaging abnormalities and a novel mutation M Muranjan1, S Karande1, S Sankhe2, S Eichler3, 1 Department of Pediatrics, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India 2 Department of Radiology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India 3 Centogene AG, Schillingallee 68, Rostock, Germany Correspondence Address: Dr. M Muranjan Department of Pediatrics, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra India Abstract Childhood cerebral X-linked adrenoleukodystrophy (XALD) typically manifests with symptoms of adrenocortical insufficiency and a variety of neurocognitive and behavioral abnormalities. A major diagnostic clue is the characteristic neuroinflammatory parieto-occipital white matter lesions on magnetic resonance imaging. This study reports a 5-year 10-month old boy presenting with generalized skin hyperpigmentation since 3 years of age. Over the past 9 months, he had developed right-sided hemiparesis and speech and behavioral abnormalities, which had progressed over 5 months to bilateral hemiparesis. Retrospective analyses of serial brain magnetic resonance images revealed an unusual pattern of lesions involving the internal capsules, corticospinal tracts in the midbrain and brainstem, and cerebellar white matter. The clinical diagnosis of childhood cerebral adrenoleukodystrophy was confirmed by elevated basal levels of adrenocorticotropin hormone and plasma very long chain fatty acid levels. Additionally, sequencing of the ABCD1 gene revealed a novel mutation. -
Primary Cilia in Energy Balance Signaling and Metabolic Disorder
BMB Rep. 2015; 48(12): 647-654 BMB www.bmbreports.org Reports Invited Mini Review Primary cilia in energy balance signaling and metabolic disorder Hankyu Lee, Jieun Song, Joo Hyun Jung & Hyuk Wan Ko* College of Pharmacy, Dongguk University, Goyang 10326, Korea Energy homeostasis in our body system is maintained by bal- complex, due to many confounding genetics and environ- ancing the intake and expenditure of energy. Excessive accu- mental factors equivocally affecting the progress of the disease. mulation of fat by disrupting the balance system causes over- Moreover, metabolic disorders are interrelated diseases exem- weight and obesity, which are increasingly becoming global plified by the association of obesity with insulin resistance, health concerns. Understanding the pathogenesis of obesity fo- leading to development of type II diabetes (2). Genetic factors cused on studying the genes related to familial types of for obesity are poorly understood, and recent progress by ge- obesity. Recently, a rare human genetic disorder, ciliopathy, nome-wide association studies support the notion of polygenic links the role for genes regulating structure and function of a features of obesity which suggests that multiple genes, tissues cellular organelle, the primary cilium, to metabolic disorder, and pathways contribute to the disease (3, 4). Intriguing subset obesity and type II diabetes. Primary cilia are microtubule of genes associated with obesity cause a dysfunction of pri- based hair-like membranous structures, lacking motility and mary cilia, which results in a rare pleiotropic human disorder functions such as sensing the environmental cues, and trans- called ciliopathy (5, 6). Primary cilia are microtubule based ducing extracellular signals within the cells. -
Whole Exome Sequencing Gene Package Vision Disorders, Version 6.1, 31-1-2020
Whole Exome Sequencing Gene package Vision disorders, version 6.1, 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 ABCA4 Cone-rod dystrophy 3, 604116 601691 94 100 100 97 Fundus flavimaculatus, 248200 {Macular degeneration, age-related, 2}, 153800 Retinal dystrophy, early-onset severe, 248200 Retinitis pigmentosa 19, 601718 Stargardt disease -
Rod-Cone Dystrophy Associated with the Gly167asp Variant in PRPH2
Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2 Rola Ba-Abbad, FRCS, PhD1,2, Anthony G. Robson, PhD1,2, Becky MacPhee, BSc2, Andrew R. Webster, MD(Res), FRCOpth1,2, Michel Michaelides, MD(Res), FRCOphth 1,2 1. UCL Institute of Ophthalmology, University College London, London, UK 2. Moorfields Eye Hospital, London, UK Declaration of interest statement: the authors report no conflict of interest. Corresponding Author: Professor Michel Michaelides, MD(Res), FRCOphth UCL Institute of Ophthalmology, London, EC1V 9EL, United Kingdom Email: [email protected] Phone number: +44 (0) 20 7608 6800 Peripherin 2-associated retinopathies are phenotypically heterogenous and can present as autosomal dominant retinitis pigmentosa, cone-rod dystrophy, various forms of macular and pattern dystrophy, or recessive retinopathy1,2. We report a case of rod-cone dystrophy associated with the variant c.500G>A, p.(Gly167Asp) in PRPH2 (OMIM 179605), which was previously reported to cause autosomal dominant butterfly-shaped pigment dystrophy of the fovea in a three-generation pedigree (MIM 169150)3. A 66-year old British woman of European ancestry was referred to the inherited retinal disorders clinic with bilateral pigmentary retinopathy, and a 5-year history of nyctalopia. There were no knowingly affected family members; her late father and mother had normal vision in their sixties and eighties respectively, and the patient’s two children had no symptoms in their third decade of life. Previously, she underwent laser refractive surgery for myopia, bilateral cataract extraction and laser posterior capsulotomy. On examination, the Snellen visual acuity was 20/30 in the right eye, and 20/80 in the left eye; and color vision (Ishihara plates) was normal bilaterally. -
EYE DISEASES July 15-17, 2019
International Conference on EYE DISEASES July 15-17, 2019 Venue Sonesta Fort Lauderdale Beach 999 N Fort Lauderdale Beach Blvd Fort Lauderdale, FL Exhibitor Day-1 | Monday July 15, 2019 Keynote Talks Vascular Basement Membrane Thickening in Diabetic Retinopathy Sayon Roy Boston University School of Medicine, Boston, MA Biography Dr. Sayon Roy is a Professor of Medicine and Ophthalmology in Department Ophthalmology, Boston University. He completed his B.S. and M.S. from University of Kalyani, India. He received his PhD from Boston University. Dr. Roy’s seminal work has identified several genes in the retina that are abnormally expressed in diabetic retinopathy. His pioneering work has led to novel gene modulatory techniques in retinal vascular cells using antisense oligonucleotides via intravitreal injection. Dr. Roy has received numerous awards including the American Diabetes Association Research Award for the commitment and dedication towards the fight against diabetes, the 2006 Mentor of the Year Award from Boston University, and the 2008 Innovative Award from the Juvenile Diabetes Research Foundation Does Genomics Play a Role in Diabetic Retinopathy? Arup Das1, Sampath Kumar Rangasamy2, Finny Monickaraj1, David Duggan2, Nicholas Schork2 and Paul McGuire1 1University of New Mexico School of Medicine, Albuquerque, NM 2 Translational and Genomics Research Institute, NM Abstract Genetic risk factors play an important role in the development and progression of diabetic retinopathy (DR). Using a well- defined, clinical phenotype, we have examined the role of rare genetic variants in DR progression, or protection by undertaking whole exome sequencing (WES). We performed WES analysis on two cohorts of patients selected from Diabetic Retinopathy Genomics (DRGen) study population. -
Ophthalmology
Ophthalmology Information for health professionals MEDICAL GENETIC TESTING FOR OPHTHALMOLOGY Recent technologies, in particularly Next Generation Sequencing (NGS), allows fast, accurate and valuable diagnostic tests. For Ophthalmology, CGC Genetics has an extensive list of medical genetic tests with clinical integration of results by our Medical Geneticists. 1. EXOME SEQUENCING: Exome Sequencing is a very efficient strategy to study most exons of a patient’s genome, unraveling mutations associated with specific disorders or phenotypes. With this diagnostic strategy, patients can be studied with a significantly reduced turnaround time and cost. CGC Genetics has available 2 options for Exome Sequencing: • Whole Exome Sequencing (WES), which analyzes the entire exome (about 20 000 genes); • Disease Exome by CGC Genetics, which analyzes about 6 000 clinically-relevant genes. Any of these can be performed in the index case or in a Trio. 2. NGS PANELS For NGS panels, several genes associated with the same phenotype are simultaneously sequenced. These panels provide increased diagnostic capability with a significantly reduced turnaround time and cost. CGC Genetics has several NGS panels for Ophthalmology that are constantly updated (www.cgcgenetics.com). Any gene studied in exome or NGS panel can also be individually sequenced and analyzed for deletion/duplication events. 3. EXPERTISE IN MEDICAL GENETICS CGC Genetics has Medical Geneticists specialized in genetic counseling for ophthalmological diseases who may advice in choosing the most appropriate -
Générique Obésités De Causes Rares
Protocole National de Diagnostic et de Soins (PNDS) Générique Obésités de causes rares Centre de Référence des maladies rares PRADORT Syndrome de PRADer-Willi et autres Obésités Rares avec Troubles du comportement alimentaire 19 JUILLET 2021 Partie 2 – Argumentaire Cet argumentaire a été élaboré par le Centre de Référence du Syndrome de PRAder-Willi et autres Obésités Rares avec Troubles du comportement alimentaire (PRADORT) . Il a servi de base à l’élaboration du PNDS : Obésités de causes rares. Le PNDS est téléchargeable sur le site de l’HAS, le site du centre de référence PRADORT et le site de la filière DEFISCIENCES CRMR PRADORT 19/07/2021 DéfiScience Filière de santé maladies rares neurdéveloppement 1 Sommaire Liste des abréviations ........................................................................................3 Préambule ........................................................................................................4 Méthode de travail 4 Argumentaire ....................................................................................................5 1.1 Recherche documentaire 5 1.1.1 Base de données et nombre de références 5 1.1.2 Critères de sélection des articles 6 1.2 Sélection des articles 7 1.2.1 Recommandations HAS 7 1.2.2 Articles 10 Annexe 1. Liste des participants ........................................................................108 Annexe 2. Adresses et Coordonnées .................................................................110 Références bibliographiques .............................................................................111 -
Nicole Trask, Pharmd, Planning for the 2019 Specialty Drug Spend
Planning for the 2019 Specialty Drug Spend August 24, 2018 Nicole Trask, PharmD Clinical Consultant Pharmacist University of Massachusetts – Clinical Pharmacy Services Disclosure for Nicole Trask I have no actual or potential conflict of interest in relation to this presentation. Budget Impact Modeling for 2 ||August 24, 2018 the Specialty Drug Spend Objectives • Identify high-impact specialty pipeline drugs expected to reach the market in 2019-2020 • Summarize efficacy data for high-impact specialty pipeline drugs and indicate their anticipated place in therapy • Compare specialty pipeline drugs to currently available therapeutic options • Predict the budgetary impact of specialty pipeline drugs and discuss strategies to mitigate costs Budget Impact Modeling for 3 ||August 24, 2018 the Specialty Drug Spend Identifying High-Impact Drugs Two key drivers • Clinical impact • Efficacy/effectiveness • Therapeutic alternatives • Economic impact • Cost • Volume Budget Impact Modeling for 4 ||August 24, 2018 the Specialty Drug Spend Assessing Clinical Impact Clinical trial data Therapeutic alternatives • Placebo-controlled, • Me-too drug vs. head-to-head studies first-in-class • Adverse events • Market competition • Potential drug-drug • Consensus interactions guidelines • Target population • Patient willingness to use medication Budget Impact Modeling for 5 ||August 24, 2018 the Specialty Drug Spend Assessing Economic Impact Cost Volume • NADAC, AWP, WAC • Prevalence/incidence of • Supplemental rebate disease • Outcomes-based • Frequency of contracts administration • Value assessments • Duration of therapy (e.g., AHRQ, ICER, PCORI) AHRQ=Agency for Healthcare Research and Quality, AWP=average wholesale price, ICER=Institute for Clinical and Economic Review, NADAC=national average drug acquisition cost, PCORI=Patient-centered Outcomes Research Institute, WAC=wholesale acquisition cost Budget Impact Modeling for 6 ||August 24, 2018 the Specialty Drug Spend Other Factors Affecting Budget Impact Disease-specific Prescriber-specific • Chronic vs. -
DJO Macular Dystrophy in a Post LASIK Patient
DJO Vol. 30, No. 3, January-March 2020 Case Report Macular Dystrophy in a Post LASIK Patient Sanjana Vatsa, Shana Sood Dr. Agarwal Eye Hospital, Chennai, Tamil Nadu, India LASIK (Laser Assisted Insitu keratomileusis) is the most commonly performed refractive surgery worldwide. A detailed pre operative and post operative evaluation of the anterior and posterior segment is a must. A 35 year old male patient with a history of LASIK surgery done 13 years back presented to us with complaint of painless, progressive diminution of vision in both eyes from past Abstract 2 years. Dilated retinal examination showed bulls eye maculopathy in both eyes. Macular OCT showed gross reduction in central foveal thickness. ERG showed marked reduction in photopic responses suggestive of a cone dystrophy. Treatment aims at alleviating the symptoms and use of low vision aids. Genetic counselling may be of benefit for affected individuals and their families. Delhi J Ophthalmol 2020;30;60-62; Doi http://dx.doi.org/10.7869/djo.529 Keywords: LASIK, Bulls eye maculopathy, cone dystrophy, genetic counselling. Introduction LASIK is the most popular and commonly performed refractive surgery worldwide.1 Along with anterior segment, a detailed evaluation of the posterior segment is a must on follow up visits to rule out any retinal lesions such as degenerations, dystrophies, maculopathy etc; as these can occur irrespective of any procedure performed. Case Report A 35 year old male patient came to us with a history of LASIK surgery done 13 years back in both eyes for a power of -7.0D sphere. Patient was comfortable with his vision after surgery and had no complaints for 11 years, after which he noticed blurring of vision in both eyes (more in the left eye). -
Basement Membranes in Diseases Affecting the Eye, Kidney
Van Agtmael, T. and Bruckner-Tuderman, L. (2010) Basement membranes and human disease. Cell and Tissue Research, 339 (1). pp. 167-188. ISSN 0302-766X http://eprints.gla.ac.uk/35275/ Deposited on: 30 August 2010 Enlighten – Research publications by members of the University of Glasgow http://eprints.gla.ac.uk Basement membranes and human disease Tom van Agtmael§ and Leena Bruckner-Tuderman* § Faculty of Biomedical and Life Sciences, University of Glasgow, Glasgow, U.K. and * Dept. of Dermatology, University Medical Center Freiburg and Freiburg Institute for Advanced Studies, Freiburg, Germany Corresponding authors: Tom Van Agtmael Faculty of Biomedical and Life Sciences, Davidson Building, University of Glasgow, University Avenue, Glasgow UK, [email protected],. Leena Bruckner-Tuderman Department of Dermatology, University Medical Center Freiburg, Hauptstr. 7, 79104 Freiburg, Germany. E-mail: [email protected] Keywords: basement membrane, laminin, collagen, laminin, nidogen Abbreviations BM: basement membrane, NMJ neuromuscular junction, DEJ dermo epidermal junction, SJS Schwartz Jampel syndrome, DDSH Dyssegmental dysplasia silverman handmaker type, EB epidermolysis bullosa, GBM glomerular basement membrane 1 Abstract In 1990 the role of basement membranes in human disease was established by the identification of COL4A5 mutations in Alport’s syndrome. Since then the number of diseases caused by mutations in basement membrane components has steadily increased as has our understanding of the roles of basement membranes in organ development and function. However, many questions remain as to the molecular and cellular consequences of these mutations and how they lead to the observed disease phenotypes. Despite this, exciting progress has recently been made with potential treatment options for some of these so far incurable diseases. -
Rett Syndrome: Coming to Terms with Treatment
Hindawi Publishing Corporation Advances in Neuroscience Volume 2014, Article ID 345270, 20 pages http://dx.doi.org/10.1155/2014/345270 Review Article Rett Syndrome: Coming to Terms with Treatment Alan Percy Civitan International Research Center, University of Alabama at Birmingham, 1720 2nd Avenue South, CIRC 320E, Birmingham, AL 35294-0021, USA Correspondence should be addressed to Alan Percy; [email protected] Received 5 January 2014; Accepted 26 February 2014; Published 10 April 2014 Academic Editor: Ronald L. Klein Copyright © 2014 Alan Percy. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Rett syndrome (RTT) has experienced remarkable progress over the past three decades since emerging as a disorder of worldwide proportions, particularly with discovery of the linkage of RTT to MECP2 mutations. The advances in clinical research and the increasing pace of basic science investigations have accelerated the pattern of discovery and understanding. Clinical trials are ongoing and others are planned. A review of these events and the prospects for continued success are highlighted below. The girls and women encountered today with RTT are, overall, in better general, neurologic, and behavioral health than those encountered earlier. This represents important progress worldwide from the concerted efforts of a broadly based and diverse clinical and basic research consortium as well -
The Role of Erg/Vep and Eye Movement Recordings in Children with Ocular Motor Apraxia
THE ROLE OF ERG/VEP AND EYE MOVEMENT RECORDINGS IN CHILDREN WITH OCULAR MOTOR APRAXIA FATIMA S. SHAWKAT, CHRISTOPHER M. HARRIS, DAVID S. I. TAYLOR and ANTHONY KRISS London SUMMARY several reports of OMA or saccade failure occurring Ocular motor apraxia (OMA) is characterised by an congenitally, with no other clinical entity?-5 How intermittent inability to initiate voluntary sacca des, and ever, it can also occur as part of a wider neurological a failure to produce optokinetic and vestibular quick disorder: for example with structural brain abnorm phases. Some patients have no other abnormalities alities, such as agenesis of the corpus callosum6 and (idiopathic OMA), whereas in others it appears vermis hypoplasia;7 with neurodegenerative condi associated with a variety of neurological conditions tions;8 and with acquired neurological disease such as which may affect the sensory visual pathway. Electro posterior fossa tumours,9 ataxia telangiectasia,lO retinograms (ERGs), flash and pattern visual evoked fronto-parietal lesions,l1.l2 occipital cortex lesions,13 potentials (VEPs) and eye movements were assessed in cerebellar and brains tern neoplasm14 and olivoponto 53 children with OMA (age range 17 days to 14 years) cerebellar degeneration. 15.16 The inability to gener to determine their efficacy in helping to distinguish ate saccades often leads to the development of between idiopathic and non-idiopathic cases. Seven patients (13.2%) had idiopathic OMA and the remain compensatory behaviour to shift direction of gaze; ing 46 (86.8%) had other associated clinical conditions. this includes headthrusting, blinking and tilted head All patients had episodes of absent quick phases ('lock posture, which enables the use of vertical eye up') during optokinetic nystagmus (OKN) and/or movements that are usually unaffected.