• KOL
    • Vici Syndrome
    • Konomi Shimoda
    • Konomi Shimoda: Influence Statistics

      Konomi Shimoda

      Konomi Shimoda

      Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan | Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, ...

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      Konomi Shimoda:Expert Impact

      Concepts for whichKonomi Shimodahas direct influence:Vici syndrome,Opitz syndrome,Static encephalopathy,Video report,Acute stage,Murinederived antigens,Receptor encephalitis,Aspartate receptor.

      Konomi Shimoda:KOL impact

      Concepts related to the work of other authors for whichfor which Konomi Shimoda has influence:Vici syndrome,Nmdar encephalitis,Aspartate receptor,Streptococcal infections,Tic disorders,Finca disease,Teratoma removal.

      KOL Resume for Konomi Shimoda

      Year
      2017

      Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

      2013

      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, Tokyo 183-0042, Japan

      2012

      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan

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      Sample of concepts for which Konomi Shimoda is among the top experts in the world.
      Concept World rank
      vici syndrome vicis #44
      syndrome vicis #44
      static encephalopathy childhood #50
      vicis #54
      video report #59
      neurodegeneration adulthood #66
      gabhs infection #69
      mutations epg5 #77
      childhood neurodegeneration #80
      shortlived plasmablasts #82
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      Prominent publications by Konomi Shimoda

      KOL-Index: 5885

      We measured anti-N-methyl-D-aspartate receptor (NMDAR) autoantibody levels and assessed B cell subsets using multicolor flow cytometry of peripheral blood mononuclear cells (PBMCs) from a recurrent anti-NMDAR encephalitis case to evaluate the effectiveness of rituximab treatment. Rituximab depleted CD20(+) fractions of naïve and memory B cell subsets and reduced the number of CD20(-) plasmablasts. This study suggests that short-lived plasmablasts are removed by rituximab-induced ...

      Known for Receptor Encephalitis | Murinederived Antigens | Shortlived Plasmablasts | Methyl Aspartate | Rituximab Treatment
      KOL-Index: 5817

      Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Mutations in EPG5, a gene that encodes a key autophagy regulator, have been shown to cause VICIS, however, the precise pathomechanism underlying VICIS is yet to be clarified. Here, we describe detailed clinical (including brain MRI and ...

      Known for Vici Syndrome | Multisystem Involvement | Neurodevelopmental Disorder | Corpus Callosum | Epg5 Gene
      KOL-Index: 3712

      Smith–Lemli–Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), which is rarely observed in Japan. We report a Japanese case with 46,XY disorder of sex development and Y-shaped 2–3 toe syndactyly. DHCR7 gene analysis revealed compound heterozygous mutations including the novel mutation H442R. Early diagnosis led to starting cholesterol treatment at an early age.

      Known for Opitz Syndrome | Sex Development | Smith Lemli | Early Diagnosis | 7dehydrocholesterol Reductase
      KOL-Index: 2833

      Although central nervous system (CNS) disorders associated with group-A beta-hemolytic streptococcal (GABHS) infection occur only rarely, Sydenham's chorea is a well-recognized disease that can arise following infection. Children may develop a tic, obsessive compulsive disorder (OCD), and extrapyramidal movement subsequent to GABHS infection. These disorders have been termed pediatric autoimmune neuropsychiatric disorders associated with streptococci (PANDAS). Herein we report one case ...

      Known for Gabhs Infection | Autoimmune Diseases | Streptococcus Pyogenes | Nervous Cns | Beta Hemolytic
      KOL-Index: 2002
      Known for Static Encephalopathy | Video Report | Childhood Neurodegeneration | Neurodegenerative Diseases
      KOL-Index: 1734

      Ataxia-telangiectasia is a chronic progressive disorder affecting the nervous and immune systems, caused by a genetic defect in the ATM protein. Clasmatodendrosis, a distinct form of astroglial death, has rarely been reported in ataxia-telangiectasia. Neuropathology of our patient disclosed diffuse edema of the cerebral and cerebellar white matter with prominent clasmatodendrosis, implicating ATM in the regulation of astroglial cell death.

      Known for Ataxia Telangiectasia | White Matter

      Key People For Vici Syndrome

      Top KOLs in the world
      #1
      Enrico Silvio Bertini
      spinal muscular atrophy muscular dystrophy joubert syndrome
      #2
      Miguel Del Campo
      vici syndrome fetal alcohol developmental delay
      #3
      Caroline A Sewry
      muscular dystrophy congenital myopathies skeletal muscle
      #4
      Heinz Jungbluth
      congenital myopathies vici syndrome ryr1 mutations
      #5
      Masaharu Hayashi
      oxidative stress xeroderma pigmentosum basal ganglia
      #6
      Rie Miyata
      oxidative stress vici syndrome ataxia telangiectasia

      Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan | Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan | Department of Pediatrics, Graduate School of Medicine, The Universi

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