DOCSLIB.ORG

Subject Index

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text

Load more

Subject Index A – labile subunit 3741 – bronchiolitis abdominal – lipase deficiency 522 – wheezing 2181, 2182, 2184 – distention 1825, 1865 acid-base disturbance 298 – cerebellar ataxia 3423 – flatulence 1825 acidemia 298 – chest syndrome (ACS) 2155, 2172, 3011, – malformation 98 acidosis 295, 298, 2491, 2886, 3781 3019 – prenatal diagnosis 98 – distal renal tubular 2843 – confusional migraine 3415, 3582 – mass 3165 – fluid therapy 474 – diarrhea 1755 – migraine 1761, 1172, 1836, 3538 acne 1447 – effects of probiotics 1888 – pain 1757, 1760, 1825, 2764 – antibiotics 1458 – disseminated encephalomyelitis (ADEM) – paracentesis 2058 – azelaic acid 1458 1223, 1224, 2554, 3277, 3410, 3543, 3548 – trauma 672 – benzoyl-peroxide 1458 – multiphasic 3545 – wall anomaly 4006 – comedonal 1453 – pseudorelapsing 3545 – wall defect 3996 – conglobata 1454 – recurrent 3545 abducent nerve (CN VI) 3457 – infantum 1448, 1454 – dysautonomia variant 3480 aberrant airflow 2189 – inversa, see hidradenitis suppurativa – endocarditis 809 abetalipoproteinemia 3429, 3484 – keloidalis 1504 – focal bacterial nephritis 2888 abnormal – miliaris 1448 – gastroenteritis 1847 – atrioventricular conduction 2384 – neonatorum 1429 – feeding 1858 – cilia 2226 – papulo-pustular 1453 – hematogenous osteomyelitis (AHO) 791 – hypothalamic-pituitary development 344 – retinoid 1456 – hemolytic anemia 2977 – red reflex 391 – scarring 1448, 1463 – hemorrhagic leukoencephalomyelitis ABO incompatibility 364 – triad 1505 3411 abortive poliomyelitis 1243 – vulgaris 1453 – hepatic failure 1134, 1140, 1142 absence status epilepticus 3416 acquaporin 2 (AQP2) 290 – hepatitis 1136, 1142, 2076 absolute acquired – inflammatory demyelinating – alcohol 2597 – aplastic anemia 3092 polyradiculoneuropathy 3479 – lymphocyte count (ALC) 1299 – coagulant factor deficiency 3105 – intermittent porphyria (AIP) 562 absorptive hypercalcemia 3623 – facial paralysis 3460 – ischemic stroke 3559, 3564 abusive head trauma 671 – immune deficiency syndrome (AIDS) – kidney injury 2701, 2907, 2908 acanthocytosis 2990 847, 1193, 3418 – liver failure 2095 Acanthosis nigricans 2087 – neutropenia 3081 – lung injury 2141 accelerated – platelet disorders 3074 – lymphoblastic leukemia (ALL) 3169, 3193 – atherosclerosis 2401 acrocyanosis 1427, 2257, 2258 – lymphocytic leukemia (ALL) 67, 68 – idioventricular rhythm (AIVR) 2393 acrodermatitis – motor axonal neuropathy 3479–3481 – junctional rhythm 2392 – enteropathica 710, 1438, 1875 – myelogenous leukemia (AML) 3163 access 2931, 2932 – papulovesicular exanthema 883 – necrotizing encephalopathy 1203, 3410 accessory navicular 3941 acroparesthesia 532 – necrotizing gingivitis (ANG) 1731 accommodative esotropia 3975 ACTH insensitivity 3684, 3686 – necrotizing hemorrhagic acephalgic migraine of childhood 3583 actigraphy 3367 leukoencephalitis 3543 aceruloplasminemia 3433 Actinobacillus actinomycetem comitans 1733 – otitis media (AOM) 863, 865 acetaminophen 2593 actinomyces bovis 1087 – painful event 3008 – hepatotoxicity 2593 actinomycosis 1087, 1735 – pancreatitis 1931 – overdose 2095, 2099 – abdominal 1088 – peritoneal dialysis 2915 acetylcholine 3493 – cervicofacial 1088 – promyelocytic leukemia (APL) 2996 – receptors 3493, 34949 – of the CNS 1089 – pseudomembranous candidiasis (thrush) acetylsalicylic acid 2625 – pelvic 1088 1736 achalasia 1750, 1775 – thoracic 1088 – renal failure 2800, 2907, 2911 Achilles tendon 1603 action tremor 3354 – replacement therapy 2915 – xanthoma 3432 activated partial thromboplastin time 3136 – respiratory distress syndrome (ARDS) Achilles tenotomy 3940 activator protein deficiency 535, 544 1027, 1201, 1214, 2141, 2165, 2231, 2497, achondroplasia 33, 34, 1744, 2221, 2223 acupuncture 3892 2520, 2528, 2916 acid acute – respiratory failure 2519 – ceramidase deficiency 523 – airway obstruction 2195 – rheumatic fever (ARF) 3347 4110 Subject Index – sensory neuropathy of childhood 3480 Aedes allergic – streptococcal gingivostomatitis 1732 – aegypti 1131 – conjunctivitis 1369 – suppurative osteomyelitis 1740 – albopictus 1131 – contact dermatitis 1436, 1467 – toxic encephalopathy 3410 aerobic metabolism 217 – disease 1347 – tubulointerstitial nephritis (ATIN) 2879 aeromonas 1754, 1852 – eosinophilic disease of the esophagus – tumor lysis syndrome (ATLS) 3203 African tick-bite fever 1025 1399 – urticaria 1405, 1406 African trypanosomiasis 3413 – granulomatosis 1691 acyclovir 327, 333, 857, 904, 909 agammaglobulinemia 1268 – ocular disease 3975 acyl-CoA dehydrogenase deficiency 484 aganglionosis 4018 – rhinitis 1361, 3962 acylcarnitine 477 agenesis of the corpus callosum 3282 – allergen avoidance 1365 adalimumab 1910 Ages and Stages Questionnaire (ASQ) 578 – pharmacologic agents 1367 Addison’s disease 1771, 2848, 3683, 3687–3689 agonal breathing 3385 allergy 1347 adefovir 916 agranulocytosis 654 – allergic triad 1348 – dipivoxil 2080 agyria–pachygyria complex 3286 – controller therapy 1355 adenoameloblastoma 1739 Aicardi–Goutieres syndrome 3408 – environmental triggers 1351 adenoid disease 2195 air – hypersensitivity 1347 adenosine 283, 284 – bronchogram 252 – type I 1347 – diphosphate 3072 – embolism 739 – type II 1347 – triphosphate (ATP) 967, 2101, 2225, 2497 – trapping 214, 2189 – type III 1348 adenotonsillar hypertrophy 2221–2224 AIRE mutation 1322 – type IV 1348 adenotonsillectomy 2223 airleak syndrome 206, 229, 251 – management 1354 adenotonsillitis 2195 airway – oral immunotherapy 1358 adenovirus 2539 – and breathing 126 – pollen-induced 1367 – infection 884 – compression 2189, 2192 – reliever therapy 1356 ADH secretion 296 – hyperresponsiveness 1377 – subcutaneous immunotherapy 1356 – hypovolemia-induced 296 – obstruction 2142, 2190, 2191, 2211 – sublingual immunotherapy (SLIT) 1358 adhalinopathy 3526 – resistance 2133, 2189 – testing 1352 adherence to medical regimens 593 – sound 2131 Allgrove syndrome 3686 adiponectin 2087 – suctioning 126 allodynia 609, 1625 adiposity 718 akathisia 3346 allogeneic HSCT 3180, 3181 adipsic disorder 3732 AKI 2921, 2922 allograft adolescence akinetic-mutism 3380 – patch arterioplasty 2376 – active military service 3898 ALAD (5-aminolevulinic acid dehydratase) – vasculopathy 2472 – gynecology 3839 deficiency porphyria 561 alloimmune hemolytic disease 425 – health care 3885 ALADIN syndrome 3686 allopurinol 76, 2873 – male health 3855 Alagille syndrome 1994, 1995, 2263, 2333, alopecia 1490, 1631 – normal development 3821 2335, 3233 – areata 1499, 1512 – nutrient needs 3830 alanine aminotransferase (ALT) 1963, 2593 – cicatricial 1503 – nutrition and weight control 3829 Albers-Scho¨nberg disease 1744 – nonscarring 1491 – psychosocial development 3823 albinism 1523 – scarring 1490 – sexuality development 3825 Albright’s hereditary osteodystrophy 3617 – totalis 1500 adolescent iron deficiency anemia 2966 albumin 1974, 3046 – triangularis 1491 adrenal albuminuria 2714 – universalis 1501 – disorder 3675 alcohol 2597, 3822, 3871 Alpers–Huttenlocher syndrome 2104, 3407, – hypoplasia congenita 3685 – dehydrogenase 2598 3408 – incidentaloma 3710 – toxicity 2599 alpha-1-antitrypsin 1891, 1894 – insufficiency 263, 343, 3683, 3687 Alder-Reilly anomaly 3083 – deficiency 2003 – steroidogenesis 3665 aldolase – diagnosis of liver disease 2004 adrenalectomy 3668 – B gene 2021 alpha-fetoprotein 2794 adrenocortical – deficiency 2983 alphavirus 1259 – carcinoma 3700, 3708 aldosterone 1865, 1867, 2654, 3675–3681, 3685, Alport syndrome 2708, 2709, 2757, – steroidogenesis 3676 3688, 3690, 3691, 3693–3697, 3699, 3700 2806, 2942 adrenocorticotropic hormone (ACTH) 493, – deficiency 341, 2848 Alstrom syndrome 772 1624, 2578, 3609, 3806 – receptor 2840 altered potassium metabolism 2663 adrenogenital syndrome 2848 Alexander Disease 3407 alveolar echinococcosis 1091, 1094 adrenoleukodystrophy 345, 3414, 3550, alkali 1778 Alzheimer’s disease 62 3684–3687 alkaline phosphatase 1973, 3613 amantadine 914 adrenomyeloneuropathy 3434 alkalosis 298, 1865 amaurosis fugax 112 advanced sleep phase syndrome (ASPS) 3370 alkylating agent 2803, 3169 ambiguous genitals 3649, 3698 Adverse Childhood Experiences (ACE) allele 13 amblyopia 598, 3973 study 678 allergen immunotherapy 1369, 1386 amebiasis 1075 Subject Index 4111 amebic Andersen–Tawil syndrome 3532, 3533 antibiotic – colitis 1075 andmyringotomy 869 – lock therapy (ALT) 836 – dysentery 1076 androgen 3675–3677, 3679, 3680, 3682, – medication 4088 – liver abscess 1076 3690–3696, 3698 antibody ameboma 1076 – excess syndrome 3848 – against b2 glycoprotein I 1641 ameloblastic – insensitivity 3660, 3847 – deficiency 1329 – fibroma 1739 – resistance 3660 antibody-dependent cell-mediated cytotoxicity – odontoma 1739 androstenedione 341 (ADCC) 1269 ameloblastoma 1739 anemia 359, 399, 962, 965, 2949–2955 anticardiolipin antibodies 1641, 1645 amenorrhea 3847 – hypoplastic 360 anticholinergics 1368 American dog tick 1025 – iron deficiency 361, 2965 anticholinesterase 2611 American Heart Association (AHA) 810 – of prematurity 360 anticoagulant protein 3131 American leishmaniasis 1101 anencephaly 95, 3281 anticoagulation 2062, 3101 amidorone 284 anetoderma of prematurity 1434 – therapy 1646 amino acid 737 aneupliody 45, 397 anticonvulsants 1413 – disorder 463 angel’s kiss 141, 1555 antidepressant 2601 – metabolism disorder 451 Angelman syndrome 22, 66, 615, 3425 antidiuretic hormone (ADH) 2515 amino acidemia 492 angioedema 78, 1409, 1410 – cyclic 2601 aminoaciduria 2865, 3268 angioplasty 1696 antidote 2590 aminoglycoside 79, 889, 896 angiotensin antidromic AV reciprocating tachycardia 282 aminolevulinic acid (ALA) 562 – converting
Recommended publications
  • Emery-Dreifuss Muscular Dystrophy: the Most Recognizable Laminopathy

    Emery-Dreifuss Muscular Dystrophy: the Most Recognizable Laminopathy

    Review paper Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy Agnieszka Madej-Pilarczyk, Andrzej Kochański Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland The authors dedicate this review to Prof. Irena Hausmanowa-Petrusewicz. Folia Neuropathol 2016; 54 (1): 1-8 DOI: 10.5114/fn.2016.58910 Abstract Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. There are at least six types of EDMD known so far, of which five have been associated with mutations in genes encoding nuclear proteins. The majority of the EDMD cases described so far are of the emerinopathy (EDMD1) kind, with a recessive X-linked mode of inheritance, or else laminopathy (EDMD2), with an autosomal dominant mode of inheritance. In the work described here, the authors have sought to describe the history by which EDMD came to be distinguished as a separate entity, as well as the clinical and genetic characteristics of the disease, the pathophysiolo- gy of lamin-related muscular diseases and, finally, therapeutic issues, prevention and ethical aspects. Key words: Emery-Dreifuss muscular dystrophy, emerin, lamin A/C, laminopathy, LMNA gene. embryo nic development [14,35]. Lamin A/C plays the Introduction role of a structural integrator in a cell nucleus, ensur- Laminopathies fall within a group of rare diseas- ing the maintenance of the latter’s shape, as well as es connected with structural/functional defects of its mechanical endurance (mechanotransduction). the proteins making up the nuclear envelope (which It takes part in regulation of the cell-division cycle, is composed of inner and outer nuclear membranes).
  • Three New Cases of Dilated Cardiomyopathy Caused by Mutations in LMNA Gene

    Three New Cases of Dilated Cardiomyopathy Caused by Mutations in LMNA Gene

    Acta Myologica • 2017; XXXVI: p. 207-212 Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene Larysa N. Sivitskaya1, Nina G. Danilenko1, Tatiyana G. Vaikhanskaya2, Tatsiyana V. Kurushka2 and Oleg G. Davydenko1 1 Institute of Genetics and Cytology, National Academy of Sciences of Belarus, Minsk, Belarus; 2 Republican Scientific and Practical Center of Cardiology, Minsk, Belarus Three cases of delated cardiomyopathy (DCM) with conduc- Mutations in LMNA affect lamins’ dimerization and as- tion defects (OMIM 115200), limb girdle muscular dystrophy sembly (1, 2). It apparently leads to nuclear stability loss 1B (OMIM 159001) and autosomal dominant Emery-Dreifuss and inability to perform functions in its entirety. The muscular dystrophy 2 (OMIM 181350), all associated with dif- ferent LMNA mutations are presented. Three heterozygous mutations in LMNA lead to at least 10 clinically distinct missense mutations were identified in unrelated patients – p. phenotypes, termed laminopathies, affecting different W520R (c.1558T > C), p.T528R (с.1583С > G) and p.R190P tissues including cardiac and skeletal muscle, cutane- (c.569G > C). We consider these variants as pathogenic, lead- ous, nervous and adipose tissue. There is no explicit ing to isolated DCM with conduction defects or syndromic relation between syndrome development and mutation DCM forms with limb-girdle muscular dystrophy and Emery- domain localization. A number of hot spots were de- Dreifuss muscular dystrophy. The mutations were not detected in the ethnically matched control group and publicly available scribed in LMNA, but the mutations common for lami- population databases. Their de novo occurrence led to the de- nopathies were not found.
  • Genetic Mutations and Mechanisms in Dilated Cardiomyopathy

    Genetic Mutations and Mechanisms in Dilated Cardiomyopathy

    Genetic mutations and mechanisms in dilated cardiomyopathy Elizabeth M. McNally, … , Jessica R. Golbus, Megan J. Puckelwartz J Clin Invest. 2013;123(1):19-26. https://doi.org/10.1172/JCI62862. Review Series Genetic mutations account for a significant percentage of cardiomyopathies, which are a leading cause of congestive heart failure. In hypertrophic cardiomyopathy (HCM), cardiac output is limited by the thickened myocardium through impaired filling and outflow. Mutations in the genes encoding the thick filament components myosin heavy chain and myosin binding protein C (MYH7 and MYBPC3) together explain 75% of inherited HCMs, leading to the observation that HCM is a disease of the sarcomere. Many mutations are “private” or rare variants, often unique to families. In contrast, dilated cardiomyopathy (DCM) is far more genetically heterogeneous, with mutations in genes encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium-handling proteins. DCM is characterized by enlarged ventricular dimensions and impaired systolic and diastolic function. Private mutations account for most DCMs, with few hotspots or recurring mutations. More than 50 single genes are linked to inherited DCM, including many genes that also link to HCM. Relatively few clinical clues guide the diagnosis of inherited DCM, but emerging evidence supports the use of genetic testing to identify those patients at risk for faster disease progression, congestive heart failure, and arrhythmia. Find the latest version: https://jci.me/62862/pdf Review series Genetic mutations and mechanisms in dilated cardiomyopathy Elizabeth M. McNally, Jessica R. Golbus, and Megan J. Puckelwartz Department of Human Genetics, University of Chicago, Chicago, Illinois, USA. Genetic mutations account for a significant percentage of cardiomyopathies, which are a leading cause of conges- tive heart failure.
  • Deciphering Nuclear Mechanobiology in Laminopathy

    Deciphering Nuclear Mechanobiology in Laminopathy

    cells Review Deciphering Nuclear Mechanobiology in Laminopathy Jungwon Hah and Dong-Hwee Kim * KU-KIST Graduate School of Converging Science and Technology, Korea University, Seoul 02841, Korea; [email protected] * Correspondence: [email protected]; Tel.: +82-2-3290-4615 Received: 29 January 2019; Accepted: 5 March 2019; Published: 11 March 2019 Abstract: Extracellular mechanical stimuli are translated into biochemical signals inside the cell via mechanotransduction. The nucleus plays a critical role in mechanoregulation, which encompasses mechanosensing and mechanotransduction. The nuclear lamina underlying the inner nuclear membrane not only maintains the structural integrity, but also connects the cytoskeleton to the nuclear envelope. Lamin mutations, therefore, dysregulate the nuclear response, resulting in abnormal mechanoregulations, and ultimately, disease progression. Impaired mechanoregulations even induce malfunction in nuclear positioning, cell migration, mechanosensation, as well as differentiation. To know how to overcome laminopathies, we need to understand the mechanisms of laminopathies in a mechanobiological way. Recently, emerging studies have demonstrated the varying defects from lamin mutation in cellular homeostasis within mechanical surroundings. Therefore, this review summarizes recent findings highlighting the role of lamins, the architecture of nuclear lamina, and their disease relevance in the context of nuclear mechanobiology. We will also provide an overview of the differentiation of cellular mechanics in laminopathy. Keywords: lamin; laminopathy; cytoskeleton; nucleus 1. Introduction Mechanical stimuli are the key to controlling numerous biological processes, including proliferation, differentiation, and migration [1–3]. Integrin mediates the transduction of forces from the external microenvironment to the intracellular cytoskeleton, and the nucleo-cytoskeletal molecular connections transmit the forces to the intranuclear chromosomal organizations [4,5].
  • Childhood Epilepsy: an Update on Diagnosis and Management

    Childhood Epilepsy: an Update on Diagnosis and Management

    American Journal of Neuroscience Review Childhood Epilepsy: An Update on Diagnosis and Management Khaled Saad Department of Pediatrics, Faculty of Medicine, University of Assiut, Assiut 71516, Egypt Article history Abstract: Within the past few years there is a rapid expansion in our Received: 23-10-2014 understanding of epilepsy. The development of new anti-epileptic drugs and Revised: 25-11-2014 refinements to epilepsy surgery are widening the therapeutic options for Accepted: 12-01-2015 epilepsy. In addition, the classification of the epilepsies continues to evolve based on an increased understanding of the molecular genetics of the condition and this includes the recognition of possible novel epilepsy syndromes. This review considers some of these exciting developments, as well as addressing the essential features of the diagnosis, investigations, management and impact of epilepsy in childhood. Keywords: Children, Epilepsy, Seizure, Anti-Epileptic Drugs Introduction guidelines for optimal practices, rational therapy and counseling (Aylwad, 2008; Tamber and Mountz, 2012; Epilepsy is a common heterogeneous neurological Sharma, 2013). problem in children. It exerts a significant physical, psychological, economic and social toll on children and Definitions their caregivers. Fifty million people have epilepsies A seizure is defined as an excessive burst of abnormal globally; more than half of them are children. In the synchronized neuronal activity affecting small or large USA; between 25,000 and 40,000 children will have a neuronal networks that results in clinical manifestations first non-febrile seizure each year. The problem is that are sudden, transient and usually brief. Epilepsy is further compounded in developing countries as they add defined as a disorder of the brain characterized by any of about 75-80% of new cases of epilepsy (Guerrini, 2006; the following conditions: (1) At least two unprovoked (or Tamber and Mountz, 2012; Sharma, 2013).
  • Genetic Determinants Underlying Rare Diseases Identified Using Next-Generation Sequencing Technologies

    Genetic Determinants Underlying Rare Diseases Identified Using Next-Generation Sequencing Technologies

    Western University Scholarship@Western Electronic Thesis and Dissertation Repository 8-2-2018 1:30 PM Genetic determinants underlying rare diseases identified using next-generation sequencing technologies Rosettia Ho The University of Western Ontario Supervisor Hegele, Robert A. The University of Western Ontario Graduate Program in Biochemistry A thesis submitted in partial fulfillment of the equirr ements for the degree in Master of Science © Rosettia Ho 2018 Follow this and additional works at: https://ir.lib.uwo.ca/etd Part of the Medical Genetics Commons Recommended Citation Ho, Rosettia, "Genetic determinants underlying rare diseases identified using next-generation sequencing technologies" (2018). Electronic Thesis and Dissertation Repository. 5497. https://ir.lib.uwo.ca/etd/5497 This Dissertation/Thesis is brought to you for free and open access by Scholarship@Western. It has been accepted for inclusion in Electronic Thesis and Dissertation Repository by an authorized administrator of Scholarship@Western. For more information, please contact [email protected]. Abstract Rare disorders affect less than one in 2000 individuals, placing a huge burden on individuals, families and the health care system. Gene discovery is the starting point in understanding the molecular mechanisms underlying these diseases. The advent of next- generation sequencing has accelerated discovery of disease-causing genetic variants and is showing numerous benefits for research and medicine. I describe the application of next-generation sequencing, namely LipidSeq™ ‒ a targeted resequencing panel for the identification of dyslipidemia-associated variants ‒ and whole-exome sequencing, to identify genetic determinants of several rare diseases. Utilization of next-generation sequencing plus associated bioinformatics led to the discovery of disease-associated variants for 71 patients with lipodystrophy, two with early-onset obesity, and families with brachydactyly, cerebral atrophy, microcephaly-ichthyosis, and widow’s peak syndrome.
  • Causes of Mortality in Early Infantile Epileptic Encephalopathy: a Systematic Review

    Causes of Mortality in Early Infantile Epileptic Encephalopathy: a Systematic Review

    Epilepsy & Behavior 85 (2018) 32–36 Contents lists available at ScienceDirect Epilepsy & Behavior journal homepage: www.elsevier.com/locate/yebeh Review Causes of mortality in early infantile epileptic encephalopathy: A systematic review Graciane Radaelli a,b, Francisco de Souza Santos b, Wyllians Vendramini Borelli b,LeonardoPisanib, Magda Lahorgue Nunes b,d, Fulvio Alexandre Scorza c,d, Jaderson Costa da Costa b,d,⁎ a Federal University of São Paulo (UNIFESP)/Paulista School of Medicine, São Paulo, Brazil b Brain Institute of Rio Grande do Sul (BraIns), Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil c Laboratory of Neuroscience, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, SP, Brazil d CNPq, Brazil article info abstract Article history: Introduction: Early infantile epileptic encephalopathy syndrome (EIEE), also known as Ohtahara syndrome, is an Received 6 March 2018 age-dependent epileptic encephalopathy syndrome defined by clinical features and electroencephalographic Revised 25 April 2018 findings. Epileptic disorders with refractory seizures beginning in the neonatal period and/or early infancy Accepted 5 May 2018 have a potential risk of premature mortality, including sudden death. We aimed to identify the causes of death Available online xxxx in EIEE and conducted a literature survey of fatal outcomes. Methods: We performed a literature search in MEDLINE, EMBASE, and Web of Science for data from inception Keywords: “ ”“ ”“ ”“ ” “ ” Ohtahara syndrome until September 2017. The terms death sudden, unexplained death, SUDEP, lethal, and fatal and the “ ”“ ”“ ”“ Early infantile epileptic syndrome medical subject heading terms epileptic encephalopathy, mortality, death, sudden infant death syn- Suppression burst drome,” and “human” were used in the search strategy.
  • Global Journal of Medical Research: F Diseases Cancer, Ophthalmology & Pediatric

    Global Journal of Medical Research: F Diseases Cancer, Ophthalmology & Pediatric

    OnlineISSN:2249-4618 PrintISSN:0975-5888 DOI:10.17406/GJMRA CoronaryArteryBypassGrafting RelationshipofClinicalManifestations SynapticPruninginAlzheimerʼsDisease TreatmentofUpperandLowerRespiratory VOLUME20ISSUE6VERSION1.0 Global Journal of Medical Research: F Diseases Cancer, Ophthalmology & Pediatric Global Journal of Medical Research: F Diseases Cancer, Ophthalmology & Pediatric Volume 2 0 Issue 6 (Ver. 1.0) Open Association of Research Society Global Journals Inc. © Global Journal of Medical (A Delaware USA Incorporation with “Good Standing”; Reg. Number: 0423089) Sponsors:Open Association of Research Society Research. 2020. Open Scientific Standards All rights reserved. Publisher’s Headquarters office This is a special issue published in version 1.0 of “Global Journal of Medical Research.” By ® Global Journals Inc. Global Journals Headquarters 945th Concord Streets, All articles are open access articles distributed under “Global Journal of Medical Research” Framingham Massachusetts Pin: 01701, United States of America Reading License, which permits restricted use. Entire contents are copyright by of “Global USA Toll Free: +001-888-839-7392 Journal of Medical Research” unless USA Toll Free Fax: +001-888-839-7392 otherwise noted on specific articles. Offset Typesetting No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including Global Journals Incorporated photocopy, recording, or any information 2nd, Lansdowne, Lansdowne Rd., Croydon-Surrey, storage and retrieval system, without written permission. Pin: CR9 2ER, United Kingdom The opinions and statements made in this Packaging & Continental Dispatching book are those of the authors concerned. Ultraculture has not verified and neither confirms nor denies any of the foregoing and Global Journals Pvt Ltd no warranty or fitness is implied. E-3130 Sudama Nagar, Near Gopur Square, Engage with the contents herein at your own Indore, M.P., Pin:452009, India risk.
  • Neonatal Seizures Revisited

    Neonatal Seizures Revisited

    children Review Neonatal Seizures Revisited Konrad Kaminiów 1 , Sylwia Kozak 1 and Justyna Paprocka 2,* 1 Students’ Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland; [email protected] (K.K.); [email protected] (S.K.) 2 Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland * Correspondence: [email protected] Abstract: Seizures are the most common neurological disorder in newborns and are most prevalent in the neonatal period. They are mostly caused by severe disorders of the central nervous system (CNS). However, they can also be a sign of the immaturity of the infant’s brain, which is characterized by the presence of specific factors that increase excitation and reduce inhibition. The most common disorders which result in acute brain damage and can manifest as seizures in neonates include hypoxic-ischemic encephalopathy (HIE), ischemic stroke, intracranial hemorrhage, infections of the CNS as well as electrolyte and biochemical disturbances. The therapeutic management of neonates and the prognosis are different depending on the etiology of the disorders that cause seizures which can lead to death or disability. Therefore, establishing a prompt diagnosis and implementing appropriate treatment are significant, as they can limit adverse long-term effects and improve outcomes. In this review paper, we present the latest reports on the etiology, pathomechanism, clinical symptoms and guidelines for the management of neonates with acute symptomatic seizures. Keywords: neonatal seizures; pathophysiology; genetics; inborn errors of metabolism Citation: Kaminiów, K.; Kozak, S.; Paprocka, J.
  • Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

    Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

    Published online: 2020-08-20 THIEME 68 Case Report Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome Sinem Yalcintepe1 Selma Demir1 Emine Ikbal Atli1 Murat Deveci2 Engin Atli1 Hakan Gurkan1 1 Department of Medical Genetics, Faculty of Medicine, Trakya Address for correspondence Sinem Yalcıntepe, MD, Department of University, Edirne, Turkey Medical Genetics, Trakya University, Faculty of Medicine, Edirne 2 Department of Pediatric Cardiology, Faculty of Medicine, Trakya 22030, Turkey (e-mail: [email protected]). University, Edirne, Turkey Global Med Genet 2020;7:68–71. Abstract Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases. Especially cardiovascular system disorders (aortic root dilatation and enlargement of the pulmonary artery) may be life-threatening. We report here the genetic analysis results of three unrelated cases clinically diagnosed as Marfan syndrome. Deoxyribonucleic acid (DNA) was isolated from EDTA (ethylenediaminetetraacetic acid)-blood samples of the patients. A next-generation sequencing panel containing 15 genes including FBN1 was used to determine the underlying pathogenic variants of Marfan syndrome. Three different variations, NM_000138.4(FBN1):c.229G > A(p.Gly77Arg), NM_000138.4(FBN1):c.165– Keywords 2A > G (novel), NM_000138.4(FBN1):c.399delC (p.Cys134ValfsTer8) (novel) were deter- ► Marfan syndrome mined in our three cases referred with a prediagnosis of Marfan syndrome. Our study has ► novel variation confirmed the utility of molecular testing in Marfan syndrome to support clinical diagnosis. ► next-generation With an accurate diagnosis and genetic counseling for prognosis of patients and family sequencing testing, the prenatal diagnosis will be possible.
  • Abstracts from the 51St European Society of Human Genetics Conference: Electronic Posters

    Abstracts from the 51St European Society of Human Genetics Conference: Electronic Posters

    European Journal of Human Genetics (2019) 27:870–1041 https://doi.org/10.1038/s41431-019-0408-3 MEETING ABSTRACTS Abstracts from the 51st European Society of Human Genetics Conference: Electronic Posters © European Society of Human Genetics 2019 June 16–19, 2018, Fiera Milano Congressi, Milan Italy Sponsorship: Publication of this supplement was sponsored by the European Society of Human Genetics. All content was reviewed and approved by the ESHG Scientific Programme Committee, which held full responsibility for the abstract selections. Disclosure Information: In order to help readers form their own judgments of potential bias in published abstracts, authors are asked to declare any competing financial interests. Contributions of up to EUR 10 000.- (Ten thousand Euros, or equivalent value in kind) per year per company are considered "Modest". Contributions above EUR 10 000.- per year are considered "Significant". 1234567890();,: 1234567890();,: E-P01 Reproductive Genetics/Prenatal Genetics then compared this data to de novo cases where research based PO studies were completed (N=57) in NY. E-P01.01 Results: MFSIQ (66.4) for familial deletions was Parent of origin in familial 22q11.2 deletions impacts full statistically lower (p = .01) than for de novo deletions scale intelligence quotient scores (N=399, MFSIQ=76.2). MFSIQ for children with mater- nally inherited deletions (63.7) was statistically lower D. E. McGinn1,2, M. Unolt3,4, T. B. Crowley1, B. S. Emanuel1,5, (p = .03) than for paternally inherited deletions (72.0). As E. H. Zackai1,5, E. Moss1, B. Morrow6, B. Nowakowska7,J. compared with the NY cohort where the MFSIQ for Vermeesch8, A.
  • A Mutation in FBN1 Disrupts Profibrillin Processing and Results in Isolated Skeletal Features of the Marfan Syndrome Dianna M

    A Mutation in FBN1 Disrupts Profibrillin Processing and Results in Isolated Skeletal Features of the Marfan Syndrome Dianna M

    Rapid Publication A Mutation in FBN1 Disrupts Profibrillin Processing and Results in Isolated Skeletal Features of the Marfan Syndrome Dianna M. Milewicz,* Jami Grossfield,* Shi-Nian Cao,* Cay Kielty,* Wesley Covitz, and Tamison Jewett* *Department of Internal Medicine, University of Texas-Houston Medical School, Houston, Texas 77030; tSchool of Biological Sciences, University of Manchester, UK, M 13 9PT; and §Department of Pediatrics, Bowman-Gray School of Medicine, Winston-Salem, North Carolina, 27157 Abstract if left untreated (3). The major ocular manifestations are ectopia lentis and myopia. The skeletal features are readily apparent Dermal fibroblasts from a 13-yr-old boy with isolated skele- when examining affected individuals and include tall stature tal features of the Marfan syndrome were used to study secondary to dolichostenomelia, arachnodactyly, scoliosis, and fibrillin synthesis and processing. Only one half of the se- pectus deformities. Although any of the manifestations of the creted profibrillin was proteolytically processed to fibrillin Marfan syndrome can occur as an isolated finding in an individ- outside the cell and deposited into the extracellular matrix. ual, it is the constellation of findings involving these systems Electron microscopic examination of rotary shadowed mi- and the autosomal dominant inheritance of these findings that crofibrils made by the proband's fibroblasts were indistin- characterize the Marfan syndrome (4). guishable from control cells. Sequencing of the FBN1 gene Extensive research has established that mutations in the revealed a heterozygous C to T transition at nucleotide 8176 FBNJ gene result in the Marfan syndrome (5-8). FBNI en- resulting in the substitution of a tryptophan for an arginine codes a large glycoprotein, fibrillin, that is a component of (R2726W), at a site immediately adjacent to a consensus microfibrils found in the extracellular matrix (9).