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  1. Article ; Online: The Brief Case: Granulomatous hepatitis in an immunocompromised patient.

    Khonde, Pooja / Byrnes, Kathleen

    Journal of clinical microbiology

    2023  Volume 61, Issue 9, Page(s) e0189222

    MeSH term(s) Humans ; Hepatitis/diagnosis ; Immunocompromised Host
    Language English
    Publishing date 2023-09-21
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 390499-4
    ISSN 1098-660X ; 0095-1137
    ISSN (online) 1098-660X
    ISSN 0095-1137
    DOI 10.1128/jcm.01892-22
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1188: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: Liver pathology in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: vasculopathic disease beyond nodular regenerative hyperplasia.

    Khonde, Pooja / Chatterjee, Deyali / Bogacki, Madonna / Liszewski, M Kathryn / Ford, Andria L / Miner, Jonathan J / Atkinson, John P / Brunt, Elizabeth M

    Human pathology

    2023  Volume 135, Page(s) 22–34

    Abstract: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant disease resulting from a frame-shift mutation in TREX1, an intracellular 3'-5' exonuclease 1. Hepatic findings include an elevated ... ...

    Abstract Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant disease resulting from a frame-shift mutation in TREX1, an intracellular 3'-5' exonuclease 1. Hepatic findings include an elevated alkaline phosphatase (ALP) and nodular regenerative hyperplasia (NRH). Affected individuals typically succumb to brain lesions before clinically apparent hepatic manifestations; thus, little else is known about the hepatic pathology. Autopsy reports and a liver section from each (n = 11) of three unrelated kindreds with the most common mutation in TREX1 (V235Gfs∗6) were studied with standard and immunohistochemical stains. Cases were compared with "normal liver" controls from similar autopsy years. Cases consisted of six men and five women who died at a median age of 50 yr (range, 41-60 yr.). Seven had elevated ALP. Two had liver atrophy. Foci of NRH were variably detected in all. Inhomogeneous distribution of other findings included patternless parenchymal fibrous bands, approximation of vascular structures, and commonly, architectural changes of vascular structures. Only bile duct epithelia were unaffected. In addition, small trichrome-positive nodules were found along vein walls or isolated in the parenchyma. Rare foci of non-NRH hepatocytic nodules were noted in 3. Increased CD34 and altered α-SMA IHC expression were variably noted. Periportal ductules and perivenular K7 IHC expression were increased to unpredictable degrees. The extensive but inhomogeneous histopathologic findings in livers of autopsied patients with RVCL-S appear to involve hepatic vascular structures. These findings validate inclusion of vascular liver involvement beyond NRH in this complex hereditary disorder.
    MeSH term(s) Male ; Humans ; Female ; Hyperplasia/pathology ; Liver/pathology ; Leukoencephalopathies/genetics ; Leukoencephalopathies/pathology ; Vascular Diseases/genetics ; Vascular Diseases/pathology ; Liver Diseases/genetics ; Liver Diseases/pathology
    Language English
    Publishing date 2023-03-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 207657-3
    ISSN 1532-8392 ; 0046-8177
    ISSN (online) 1532-8392
    ISSN 0046-8177
    DOI 10.1016/j.humpath.2023.02.013
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 722: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: Recurrent switch 2 domain RAC2 mutations in intravascular large B-cell lymphoma.

    Kodgule, Rohan / Chen, Jie / Khonde, Pooja / Robinson, Joshua / D'Albora, Amy / Cook, Lisa / Fronick, Catrina C / Fulton, Robert / Srivatsan, Sridhar Nonavinkere / Cimino, Patrick J / Duncavage, Eric J

    Blood advances

    2022  Volume 6, Issue 23, Page(s) 6051–6055

    MeSH term(s) Humans ; Lymphoma, Large B-Cell, Diffuse/genetics ; Mutation
    Language English
    Publishing date 2022-04-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2915908-8
    ISSN 2473-9537 ; 2473-9529
    ISSN (online) 2473-9537
    ISSN 2473-9529
    DOI 10.1182/bloodadvances.2022006985
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 7153: Show issues Location:
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    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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