Magnetic Resonance Imaging (Mri)
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Paternal Factors and Schizophrenia Risk: De Novo Mutations and Imprinting
Paternal Factors and Schizophrenia Risk: De Novo Mutations and Imprinting by Dolores Malaspina Downloaded from https://academic.oup.com/schizophreniabulletin/article/27/3/379/1835092 by guest on 23 September 2021 Abstract (Impagnatiello et al. 1998; Kao et al. 1998), but there is no consensus that any particular gene plays a meaning- There is a strong genetic component for schizophrenia ful role in the etiology of schizophrenia (Hyman 2000). risk, but it is unclear how the illness is maintained in Some of the obstacles in genetic research in schiz- the population given the significantly reduced fertility ophrenia are those of any complex disorder, and include of those with the disorder. One possibility is that new incomplete penetrance, polygenic interaction (epista- mutations occur in schizophrenia vulnerability genes. sis), diagnostic instability, and variable expressivity. If so, then those with schizophrenia may have older Schizophrenia also does not show a clear Mendelian fathers, because advancing paternal age is the major inheritance pattern, although segregation analyses have source of new mutations in humans. This review variably supported dominant, recessive, additive, sex- describes several neurodevelopmental disorders that linked, and oligogenic inheritance (Book 1953; Slater have been associated with de novo mutations in the 1958; Garrone 1962; Elston and Campbell 1970; Slater paternal germ line and reviews data linking increased and Cowie 1971; Karlsson 1972; Stewart et al. 1980; schizophrenia risk with older fathers. Several genetic Risch 1990a, 1990fc; reviewed by Kendler and Diehl mechanisms that could explain this association are 1993). Furthermore, both nonallelic (Kaufmann et al. proposed, including paternal germ line mutations, 1998) and etiologic heterogeneity (Malaspina et al. -
Bhagwan Moorjani, MD, FAAP, FAAN • Requires Knowledge of Normal CNS Developmental (I.E
1/16/2012 Neuroimaging in Childhood • Neuroimaging issues are distinct from Pediatric Neuroimaging in adults Neurometabolic-degenerative disorder • Sedation/anesthesia and Epilepsy • Motion artifacts Bhagwan Moorjani, MD, FAAP, FAAN • Requires knowledge of normal CNS developmental (i.e. myelin maturation) • Contrast media • Parental anxiety Diagnostic Approach Neuroimaging in Epilepsy • Age of onset • Peak incidence in childhood • Static vs Progressive • Occurs as a co-morbid condition in many – Look for treatable causes pediatric disorders (birth injury, – Do not overlook abuse, Manchausen if all is negative dysmorphism, chromosomal anomalies, • Phenotype presence (syndromic, HC, NCS, developmental delays/regression) systemic involvement) • Predominant symptom (epilepsy, DD, • Many neurologic disorders in children weakness/motor, psychomotor regression, have the same chief complaint cognitive/dementia) 1 1/16/2012 Congenital Malformation • Characterized by their anatomic features • Broad categories: based on embryogenesis – Stage 1: Dorsal Induction: Formation and closure of the neural tube. (Weeks 3-4) – Stage 2: Ventral Induction: Formation of the brain segments and face. (Weeks 5-10) – Stage 3: Migration and Histogenesis: (Months 2-5) – Stage 4: Myelination: (5-15 months; matures by 3 years) Dandy Walker Malformation Dandy walker • Criteria: – high position of tentorium – dysgenesis/agenesis of vermis – cystic dilatation of fourth ventricle • commonly associated features: – hypoplasia of cerebellum – scalloping of inner table of occipital bone • associated abnormalities: – hydrocephalus 75% – dysgenesis of corpus callosum 25% – heterotropia 10% 2 1/16/2012 Etiology of Epilepsy: Developmental and Genetic Classification of Gray Matter Heterotropia Cortical Dysplasia 1. Secondary to abnormal neuronal and • displaced masses of nerve cells • Subependymal glial proliferation/apoptosis (gray matter) heterotropia (most • most common: small nest common) 2. -
Mutation in Genes FBN1, AKT1, and LMNA: Marfan Syndrome, Proteus Syndrome, and Progeria Share Common Systemic Involvement
Review Mutation in Genes FBN1, AKT1, and LMNA: Marfan Syndrome, Proteus Syndrome, and Progeria Share Common Systemic Involvement Tonmoy Biswas.1 Abstract Genetic mutations are becoming more deleterious day by day. Mutations of Genes named FBN1, AKT1, LMNA result specific protein malfunction that in turn commonly cause Marfan syndrome, Proteus syndrome, and Progeria, respectively. Articles about these conditions have been reviewed in PubMed and Google scholar with a view to finding relevant clinical features. Precise keywords have been used in search for systemic involvement of FBN1, AKT1, and LMNA gene mutations. It has been found that Marfan syndrome, Proteus syndrome, and Progeria commonly affected musculo-skeletal system, cardiovascular system, eye, and nervous system. Not only all of them shared identical systemic involvement, but also caused several very specific anomalies in various parts of the body. In spite of having some individual signs and symptoms, the mutual manifestations were worth mentio- ning. Moreover, all the features of the mutations of all three responsible genes had been co-related and systemically mentioned in this review. There can be some mutual properties of the genes FBN1, AKT1, and LMNA or in their corresponding proteins that result in the same presentations. This study may progress vision of knowledge regarding risk factors, patho-physiology, and management of these conditions, and relation to other mutations. Keywords: Genetic mutation; Marfan syndrome; Proteus syndrome; Progeria; Gene FBN1; Gene AKT1; Gene LMNA; Musculo-skeletal system; Cardiovascular system; Eye; Nervous system (Source: MeSH, NLM). Introduction Records in human mutation databases are increasing day by 5 About the author: Tonmoy The haploid human genome consists of 3 billion nucleotides day. -
Megalencephaly and Macrocephaly
277 Megalencephaly and Macrocephaly KellenD.Winden,MD,PhD1 Christopher J. Yuskaitis, MD, PhD1 Annapurna Poduri, MD, MPH2 1 Department of Neurology, Boston Children’s Hospital, Boston, Address for correspondence Annapurna Poduri, Epilepsy Genetics Massachusetts Program, Division of Epilepsy and Clinical Electrophysiology, 2 Epilepsy Genetics Program, Division of Epilepsy and Clinical Department of Neurology, Fegan 9, Boston Children’s Hospital, 300 Electrophysiology, Department of Neurology, Boston Children’s Longwood Avenue, Boston, MA 02115 Hospital, Boston, Massachusetts (e-mail: [email protected]). Semin Neurol 2015;35:277–287. Abstract Megalencephaly is a developmental disorder characterized by brain overgrowth secondary to increased size and/or numbers of neurons and glia. These disorders can be divided into metabolic and developmental categories based on their molecular etiologies. Metabolic megalencephalies are mostly caused by genetic defects in cellular metabolism, whereas developmental megalencephalies have recently been shown to be caused by alterations in signaling pathways that regulate neuronal replication, growth, and migration. These disorders often lead to epilepsy, developmental disabilities, and Keywords behavioral problems; specific disorders have associations with overgrowth or abnor- ► megalencephaly malities in other tissues. The molecular underpinnings of many of these disorders are ► hemimegalencephaly now understood, providing insight into how dysregulation of critical pathways leads to ► -
Level Estimates of Maternal Smoking and Nicotine Replacement Therapy During Pregnancy
Using primary care data to assess population- level estimates of maternal smoking and nicotine replacement therapy during pregnancy Nafeesa Nooruddin Dhalwani BSc MSc Thesis submitted to the University of Nottingham for the degree of Doctor of Philosophy November 2014 ABSTRACT Background: Smoking in pregnancy is the most significant preventable cause of poor health outcomes for women and their babies and, therefore, is a major public health concern. In the UK there is a wide range of interventions and support for pregnant women who want to quit. One of these is nicotine replacement therapy (NRT) which has been widely available for retail purchase and prescribing to pregnant women since 2005. However, measures of NRT prescribing in pregnant women are scarce. These measures are vital to assess its usefulness in smoking cessation during pregnancy at a population level. Furthermore, evidence of NRT safety in pregnancy for the mother and child’s health so far is nebulous, with existing studies being small or using retrospectively reported exposures. Aims and Objectives: The main aim of this work was to assess population- level estimates of maternal smoking and NRT prescribing in pregnancy and the safety of NRT for both the mother and the child in the UK. Currently, the only population-level data on UK maternal smoking are from repeated cross-sectional surveys or routinely collected maternity data during pregnancy or at delivery. These obtain information at one point in time, and there are no population-level data on NRT use available. As a novel approach, therefore, this thesis used the routinely collected primary care data that are currently available for approximately 6% of the UK population and provide longitudinal/prospectively recorded information throughout pregnancy. -
Massachusetts Birth Defects 2002-2003
Massachusetts Birth Defects 2002-2003 Massachusetts Birth Defects Monitoring Program Bureau of Family Health and Nutrition Massachusetts Department of Public Health January 2008 Massachusetts Birth Defects 2002-2003 Deval L. Patrick, Governor Timothy P. Murray, Lieutenant Governor JudyAnn Bigby, MD, Secretary, Executive Office of Health and Human Services John Auerbach, Commissioner, Massachusetts Department of Public Health Sally Fogerty, Director, Bureau of Family Health and Nutrition Marlene Anderka, Director, Massachusetts Center for Birth Defects Research and Prevention Linda Casey, Administrative Director, Massachusetts Center for Birth Defects Research and Prevention Cathleen Higgins, Birth Defects Surveillance Coordinator Massachusetts Department of Public Health 617-624-5510 January 2008 Acknowledgements This report was prepared by the staff of the Massachusetts Center for Birth Defects Research and Prevention (MCBDRP) including: Marlene Anderka, Linda Baptiste, Elizabeth Bingay, Joe Burgio, Linda Casey, Xiangmei Gu, Cathleen Higgins, Angela Lin, Rebecca Lovering, and Na Wang. Data in this report have been collected through the efforts of the field staff of the MCBDRP including: Roberta Aucoin, Dorothy Cichonski, Daniel Sexton, Marie-Noel Westgate and Susan Winship. We would like to acknowledge the following individuals for their time and commitment to supporting our efforts in improving the MCBDRP. Lewis Holmes, MD, Massachusetts General Hospital Carol Louik, ScD, Slone Epidemiology Center, Boston University Allen Mitchell, -
Guidelines for Conducting Birth Defects Surveillance
NATIONAL BIRTH DEFECTS PREVENTION NETWORK HTTP://WWW.NBDPN.ORG Guidelines for Conducting Birth Defects Surveillance Edited By Lowell E. Sever, Ph.D. June 2004 Support for development, production, and distribution of these guidelines was provided by the Birth Defects State Research Partnerships Team, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention Copies of Guidelines for Conducting Birth Defects Surveillance can be viewed or downloaded from the NBDPN website at http://www.nbdpn.org/bdsurveillance.html. Comments and suggestions on this document are welcome. Submit comments to the Surveillance Guidelines and Standards Committee via e-mail at [email protected]. You may also contact a member of the NBDPN Executive Committee by accessing http://www.nbdpn.org and then selecting Network Officers and Committees. Suggested citation according to format of Uniform Requirements for Manuscripts ∗ Submitted to Biomedical Journals:∗ National Birth Defects Prevention Network (NBDPN). Guidelines for Conducting Birth Defects Surveillance. Sever, LE, ed. Atlanta, GA: National Birth Defects Prevention Network, Inc., June 2004. National Birth Defects Prevention Network, Inc. Web site: http://www.nbdpn.org E-mail: [email protected] ∗International Committee of Medical Journal Editors. Uniform requirements for manuscripts submitted to biomedical journals. Ann Intern Med 1988;108:258-265. We gratefully acknowledge the following individuals and organizations who contributed to developing, writing, editing, and producing this document. NBDPN SURVEILLANCE GUIDELINES AND STANDARDS COMMITTEE STEERING GROUP Carol Stanton, Committee Chair (CO) Larry Edmonds (CDC) F. John Meaney (AZ) Glenn Copeland (MI) Lisa Miller-Schalick (MA) Peter Langlois (TX) Leslie O’Leary (CDC) Cara Mai (CDC) EDITOR Lowell E. -
Diseases of the Digestive System (KOO-K93)
CHAPTER XI Diseases of the digestive system (KOO-K93) Diseases of oral cavity, salivary glands and jaws (KOO-K14) lijell Diseases of pulp and periapical tissues 1m Dentofacial anomalies [including malocclusion] Excludes: hemifacial atrophy or hypertrophy (Q67.4) K07 .0 Major anomalies of jaw size Hyperplasia, hypoplasia: • mandibular • maxillary Macrognathism (mandibular)(maxillary) Micrognathism (mandibular)( maxillary) Excludes: acromegaly (E22.0) Robin's syndrome (087.07) K07 .1 Anomalies of jaw-cranial base relationship Asymmetry of jaw Prognathism (mandibular)( maxillary) Retrognathism (mandibular)(maxillary) K07.2 Anomalies of dental arch relationship Cross bite (anterior)(posterior) Dis to-occlusion Mesio-occlusion Midline deviation of dental arch Openbite (anterior )(posterior) Overbite (excessive): • deep • horizontal • vertical Overjet Posterior lingual occlusion of mandibular teeth 289 ICO-N A K07.3 Anomalies of tooth position Crowding Diastema Displacement of tooth or teeth Rotation Spacing, abnormal Transposition Impacted or embedded teeth with abnormal position of such teeth or adjacent teeth K07.4 Malocclusion, unspecified K07.5 Dentofacial functional abnormalities Abnormal jaw closure Malocclusion due to: • abnormal swallowing • mouth breathing • tongue, lip or finger habits K07.6 Temporomandibular joint disorders Costen's complex or syndrome Derangement of temporomandibular joint Snapping jaw Temporomandibular joint-pain-dysfunction syndrome Excludes: current temporomandibular joint: • dislocation (S03.0) • strain (S03.4) K07.8 Other dentofacial anomalies K07.9 Dentofacial anomaly, unspecified 1m Stomatitis and related lesions K12.0 Recurrent oral aphthae Aphthous stomatitis (major)(minor) Bednar's aphthae Periadenitis mucosa necrotica recurrens Recurrent aphthous ulcer Stomatitis herpetiformis 290 DISEASES OF THE DIGESTIVE SYSTEM Diseases of oesophagus, stomach and duodenum (K20-K31) Ill Oesophagitis Abscess of oesophagus Oesophagitis: • NOS • chemical • peptic Use additional external cause code (Chapter XX), if desired, to identify cause. -
Classification of Congenital Abnormalities of the CNS
315 Classification of Congenital Abnormalities of the CNS M. S. van der Knaap1 A classification of congenital cerebral, cerebellar, and spinal malformations is pre J . Valk2 sented with a view to its practical application in neuroradiology. The classification is based on the MR appearance of the morphologic abnormalities, arranged according to the embryologic time the derangement occurred. The normal embryology of the brain is briefly reviewed, and comments are made to explain the classification. MR images illustrating each subset of abnormalities are presented. During the last few years, MR imaging has proved to be a diagnostic tool of major importance in children with congenital malformations of the eNS [1]. The excellent gray fwhite-matter differentiation and multi planar imaging capabilities of MR allow a systematic analysis of the condition of the brain in infants and children. This is of interest for estimating prognosis and for genetic counseling. A classification is needed to serve as a guide to the great diversity of morphologic abnormalities and to make the acquired data useful. Such a system facilitates encoding, storage, and computer processing of data. We present a practical classification of congenital cerebral , cerebellar, and spinal malformations. Our classification is based on the morphologic abnormalities shown by MR and on the time at which the derangement of neural development occurred. A classification based on etiology is not as valuable because the various presumed causes rarely lead to a specific pattern of malformations. The abnor malities reflect the time the noxious agent interfered with neural development, rather than the nature of the noxious agent. The vulnerability of the various structures to adverse agents is greatest during the period of most active growth and development. -
Supratentorial Brain Malformations
Supratentorial Brain Malformations Edward Yang, MD PhD Department of Radiology Boston Children’s Hospital 1 May 2015/ SPR 2015 Disclosures: Consultant, Corticometrics LLC Objectives 1) Review major steps in the morphogenesis of the supratentorial brain. 2) Categorize patterns of malformation that result from failure in these steps. 3) Discuss particular imaging features that assist in recognition of these malformations. 4) Reference some of the genetic bases for these malformations to be discussed in greater detail later in the session. Overview I. Schematic overview of brain development II. Abnormalities of hemispheric cleavage III. Commissural (Callosal) abnormalities IV. Migrational abnormalities - Gray matter heterotopia - Pachygyria/Lissencephaly - Focal cortical dysplasia - Transpial migration - Polymicrogyria V. Global abnormalities in size (proliferation) VI. Fetal Life and Myelination Considerations I. Schematic Overview of Brain Development Embryology Top Mid-sagittal Top Mid-sagittal Closed Neural Tube (4 weeks) Corpus Callosum Callosum Formation Genu ! Splenium Cerebral Hemisphere (11-20 weeks) Hemispheric Cleavage (4-6 weeks) Neuronal Migration Ventricular/Subventricular Zones Ventricle ! Cortex (8-24 weeks) Neuronal Precursor Generation (Proliferation) (6-16 weeks) Embryology From ten Donkelaar Clinical Neuroembryology 2010 4mo 6mo 8mo term II. Abnormalities of Hemispheric Cleavage Holoprosencephaly (HPE) Top Mid-sagittal Imaging features: Incomplete hemispheric separation + 1)1) No septum pellucidum in any HPEs Closed Neural -
R J M E ASE EPORT Romanian Journal of C R Morphology & Embryology
Rom J Morphol Embryol 2016, 57(4):1403–1408 R J M E ASE EPORT Romanian Journal of C R Morphology & Embryology http://www.rjme.ro/ Ovarian teratomas in a patient with Bardet–Biedl syndrome, a rare association IRINA TICA1), OANA-SORINA TICA2), ALINA DOINA NICOARĂ1), VLAD IUSTIN TICA3), ANDREI-ADRIAN TICA4) 1)Medical Department, Faculty of Medicine, “Ovidius” University, Constanta, Romania 2)Department of Mother and Child, Faculty of Medicine, University of Medicine and Pharmacy of Craiova, Romania 3)Department of Obstetrics and Gynecology, Faculty of Medicine, “Ovidius” University, Constanta, Romania 4)Research Center for Clinical and Experimental Medicine, University of Medicine and Pharmacy of Craiova, Romania Abstract Bardet–Biedl syndrome (BBS) represents a rare ciliopathy recessive autosomal inherited. The main clinical features are retinal dystrophy, postaxial polydactyly, obesity, different degrees of cognitive deficit, renal impairment, hypogonadism and genital malformations. The genetic explanation consists in BBS genes mutations, which encode modified proteins, altering the function of the immotile cilia. As a multitude of BBS genes mutations were described, the phenotypic aspect of these disorders varies according to that. We present the case of a 22 years old female patient, known with BBS since the age of 11 and which was diagnosed and operated for bilateral ovarian dermoid cysts, at the age of 21. We did not find a similar case in literature, regarding the association between the two disorders. We consider that our case points towards the importance of periodic imagistic evaluations [magnetic resonance imaging (MRI), computed tomography (CT) or ultrasound] of these patients, not only clinical and biological. -
Structural Genomic Variation in Childhood Epilepsies with Complex Phenotypes
European Journal of Human Genetics (2014) 22, 896–901 & 2014 Macmillan Publishers Limited All rights reserved 1018-4813/14 www.nature.com/ejhg ARTICLE Structural genomic variation in childhood epilepsies with complex phenotypes Ingo Helbig*,1, Marielle EM Swinkels2,3, Emmelien Aten4, Almuth Caliebe5, Ruben van ‘t Slot2, Rainer Boor1, Sarah von Spiczak1, Hiltrud Muhle1, Johanna A Ja¨hn1, Ellen van Binsbergen2, Onno van Nieuwenhuizen6, Floor E Jansen6, Kees PJ Braun6, Gerrit-Jan de Haan3, Niels Tommerup7, Ulrich Stephani1, Helle Hjalgrim8,9, Martin Poot2, Dick Lindhout2,3, Eva H Brilstra2, Rikke S Møller7,8 and Bobby PC Koeleman2 A genetic contribution to a broad range of epilepsies has been postulated, and particularly copy number variations (CNVs) have emerged as significant genetic risk factors. However, the role of CNVs in patients with epilepsies with complex phenotypes is not known. Therefore, we investigated the role of CNVs in patients with unclassified epilepsies and complex phenotypes. A total of 222 patients from three European countries, including patients with structural lesions on magnetic resonance imaging (MRI), dysmorphic features, and multiple congenital anomalies, were clinically evaluated and screened for CNVs. MRI findings including acquired or developmental lesions and patient characteristics were subdivided and analyzed in subgroups. MRI data were available for 88.3% of patients, of whom 41.6% had abnormal MRI findings. Eighty-eight rare CNVs were discovered in 71 out of 222 patients (31.9%). Segregation of all identified variants could be assessed in 42 patients, 11 of which were de novo. The frequency of all structural variants and de novo variants was not statistically different between patients with or without MRI abnormalities or MRI subcategories.