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  1. Artikel ; Online: Hemichorea-Hemiballismus as a Presentation of Cerebritis from Intracranial Toxoplasmosis and Tuberculosis.

    Dimal, Nico Paulo M / Santos, Nigel Jeronimo C / Reyes, Nikolai Gil D / Astejada, Mina N / Jamora, Roland Dominic G

    Tremor and other hyperkinetic movements (New York, N.Y.)

    2021  Band 11, Seite(n) 2

    Abstract: Background: There is limited literature documenting hemichorea-hemiballism (HCHB) resulting from co-infection of toxoplasmosis and tuberculosis (TB) in acquired immunodeficiency syndrome (AIDS). Toxoplasmic abscess is the most common cause while TB is a ...

    Abstract Background: There is limited literature documenting hemichorea-hemiballism (HCHB) resulting from co-infection of toxoplasmosis and tuberculosis (TB) in acquired immunodeficiency syndrome (AIDS). Toxoplasmic abscess is the most common cause while TB is a rare etiology.
    Case description: We describe a 24-year-old male with AIDS-related HCHB as the presentation of cerebritis on the right subthalamic nucleus and cerebral peduncle from intracranial toxoplasma and TB co-infection. Antimicrobials and symptomatic therapy were given. Marked improvement was seen on follow-up.
    Discussion: HCHB may be the initial presentation of intracranial involvement of this co-infection in the setting of AIDS and is potentially reversible with timely management.
    Highlights: Hemichorea-hemiballismus (HCHB) may be an initial presentation of intracranial involvement of concomitant toxoplasmosis and tuberculosis causing focal cerebritis in the contralateral subthalamic nucleus and cerebral peduncle, particularly in the setting of human immunodeficiency virus infection.Acquired immunodeficiency syndrome-related HCHB is potentially reversible with timely diagnosis and treatment.
    Mesh-Begriff(e) Acquired Immunodeficiency Syndrome ; Adult ; Chorea/complications ; Chorea/diagnostic imaging ; Chorea/drug therapy ; Dyskinesias/complications ; Dyskinesias/diagnostic imaging ; Humans ; Male ; Toxoplasmosis, Cerebral/diagnosis ; Toxoplasmosis, Cerebral/diagnostic imaging ; Tuberculosis ; Young Adult
    Sprache Englisch
    Erscheinungsdatum 2021-01-20
    Erscheinungsland England
    Dokumenttyp Case Reports
    ZDB-ID 2674453-3
    ISSN 2160-8288 ; 2160-8288
    ISSN (online) 2160-8288
    ISSN 2160-8288
    DOI 10.5334/tohm.576
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.

    Astejada, M N / Goto, K / Nagano, A / Ura, S / Noguchi, S / Nonaka, I / Nishino, I / Hayashi, Y K

    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

    2008  Band 26, Heft 3, Seite(n) 159–164

    Abstract: Mutations in the genes for nuclear envelope proteins of emerin (EMD) and lamin A/C (LMNA) are known to cause Emery-Dreifuss muscular dystrophy (EDMD) and limb girdle muscular dystrophy (LGMD). We compared clinical features of the muscular dystrophy ... ...

    Abstract Mutations in the genes for nuclear envelope proteins of emerin (EMD) and lamin A/C (LMNA) are known to cause Emery-Dreifuss muscular dystrophy (EDMD) and limb girdle muscular dystrophy (LGMD). We compared clinical features of the muscular dystrophy patients associated with mutations in EMD (emerinopathy) and LMNA (laminopathy) in our series. The incidence of laminopathy was slightly higher than that of emerinopathy. The age at onset of the disease in emerinopathy was variable and significantly older than in laminopathy. The initial symptom of emerinopathy was also variable, whereas nearly all laminopathy patients presented initially with muscle weakness. Calf hypertrophy was often seen in laminopathy, underscoring the importance of mutation screening for LMNA in childhood muscular dystrophy with calf hypertrophy. The clinical spectrum of emerinopathy is actually wider than previously known including EDMD, LGMD, conduction defects with minimal muscle/joint involvement, and their intermittent forms. Pathologically, no marked difference was observed between emerinopathy and laminopathy. Increased number and variation in size of myonuclei were detected. More precise observations using electron microscopy is warranted to characterize the detailed nuclear changes in nuclear envelopathy.
    Mesh-Begriff(e) DNA/genetics ; Humans ; Japan/epidemiology ; Lamin Type A/genetics ; Lamin Type A/metabolism ; Lipodystrophy ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Muscular Dystrophies/epidemiology ; Muscular Dystrophies/genetics ; Muscular Dystrophies/metabolism ; Mutation ; Nuclear Envelope/genetics ; Nuclear Envelope/metabolism ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism ; Polymerase Chain Reaction ; Prevalence
    Chemische Substanzen LMNA protein, human ; Lamin Type A ; Membrane Proteins ; Nuclear Proteins ; emerin ; DNA (9007-49-2)
    Sprache Englisch
    Erscheinungsdatum 2008-07-16
    Erscheinungsland Italy
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2102328-1
    ISSN 1128-2460
    ISSN 1128-2460
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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