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1. 原発性（先天性）脳ヘルニア primary congenital encephalocele
2. 幼児および小児における巨頭症の病因および評価 etiology and evaluation of macrocephaly in infants and children
3. 先天性腎尿路異常（CAKUT）の概要 overview of congenital anomalies of the kidney and urinary tract cakut
4. 先天性甲状腺機能低下症の臨床的特徴および検出 clinical features and detection of congenital hypothyroidism
5. 外陰部異常を有する幼児の評価 evaluation of the infant with ambiguous genitalia

Routine Screening for Callosal Dysgenesis in the Second Trimester Is Achievable With Intensive Training.

Lavender I1, Coombs PR2, Van Haltren K3, Robinson AJ4.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.J Ultrasound Med.2016 Apr;35(4):717-22. doi: 10.7863/ultra.15.05069. Epub 2016 Mar 1.
OBJECTIVES: The purpose of this study was to determine whether routine direct visualization of the corpus callosum is achievable during second-trimester sonography when performed by a large group of sonographers in a general second-trimester sonographic screening program. The secondary aim was to de
PMID 26931786

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Byrne S1, Jansen L2, U-King-Im JM3, Siddiqui A3, Lidov HG4, Bodi I5, Smith L6, Mein R7, Cullup T8, Dionisi-Vici C9, Al-Gazali L10, Al-Owain M11, Bruwer Z12, Al Thihli K12, El-Garhy R13, Flanigan KM14, Manickam K15, Zmuda E15, Banks W15, Gershoni-Baruch R16, Mandel H17, Dagan E18, Raas-Rothschild A19, Barash H19, Filloux F20, Creel D21, Harris M22, Hamosh A23, Kölker S24, Ebrahimi-Fakhari D24, Hoffmann GF24, Manchester D25, Boyer PJ26, Manzur AY27, Lourenco CM28, Pilz DT29, Kamath A29, Prabhakar P30, Rao VK31, Rogers RC32, Ryan MM33, Brown NJ34, McLean CA35, Said E36, Schara U37, Stein A38, Sewry C39, Travan L40, Wijburg FA41, Zenker M42, Mohammed S43, Fanto M2, Gautel M6, Jungbluth H44.
Brain : a journal of neurology.Brain.2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393.
Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Dr
PMID 26917586

Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts.

Keating MK1, Sturges BK1,2, Sisó S1,3, Wisner ER1,2, Creighton EK4,5, Lyons LA4,5.
Journal of veterinary internal medicine / American College of Veterinary Internal Medicine.J Vet Intern Med.2016 Mar-Apr;30(2):617-26. doi: 10.1111/jvim.13836. Epub 2016 Feb 4.
BACKGROUND: In children, frequent congenital malformations with concomitant agenesis of the corpus callosum are diagnosed by neuroimaging in association with other cerebral malformations, including interhemispheric cysts and ventriculomegaly. Similar studies providing full characterization of brain
PMID 26846816

浦西龍之介,二階堂雄次,江口隆彦,藤本京利,別所啓伸,乾多久夫
脳神経外科ジャーナル 5(1), 53-58, 1996-01-20
脳梁形成不全を伴った視床下部過誤腫の1例を報告した.症例は4歳の男児で,笑い発作で発症した.また軽度ながら陰茎の肥大など思春期早発症も認められた.MRI上鞍上部にGd-DTPAにて増強効果を認めない腫瘤と,脳梁の部分欠損を認めた.生検から視床下部過誤腫の診断が得られた.これまでの報告から視床下部過誤腫の発生時期は胎生35〜40日とされており,また脳梁の発生が6〜20週と考えられていることから,両者 …
NAID 110003812784