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  1. Article: Travel related histoplasmosis - a diagnostic challenge in a patient with tumor necrosis factor alpha (TNF-α) inhibitor therapy.

    Hofmann, Eveline / Mühlethaler, Konrad / Pollak, Matthias / Ott, Daniel / Bienz, Nora / Zimmerli, Stefan / Hirzel, Cédric

    Tropical diseases, travel medicine and vaccines

    2022  Volume 8, Issue 1, Page(s) 21

    Abstract: Introduction: In a non-endemic setting, disseminated histoplasmosis is a rare travel-related health problem of immunosuppressed returnees from endemic regions.: Methods: We describe the case of a 68-year-old man with rheumatoid arthritis and tumor ... ...

    Abstract Introduction: In a non-endemic setting, disseminated histoplasmosis is a rare travel-related health problem of immunosuppressed returnees from endemic regions.
    Methods: We describe the case of a 68-year-old man with rheumatoid arthritis and tumor necrosis factor alpha (TNF-α) inhibitor treatment-related immunodeficiency, who suffered from disseminated histoplasmosis after traveling to Brazil. Based on this case, we discuss challenges and pitfalls associated with the diagnosis of disseminated histoplasmosis in a non-endemic setting.
    Results: The disease mimicked a hemophagocytic lymphohistiocytosis (HLH) like syndrome. Histoplasma capsulatum was microscopically detected in bronchoalveolar fluid and bone marrow aspirate smears, but was initially misclassified as Leishmania spp., another class of pathogens, which may cause HLH like syndromes in immunocompromised individuals.
    Discussion: Since the clinical symptoms of histoplasmosis are nonspecific and physicians in non-endemic regions might not be familiar with this disease pattern, there is a risk of delayed diagnosis of travel related cases. Taking a thorough travel history is key in unclear cases of illness in immunocompromised patients.
    Language English
    Publishing date 2022-09-15
    Publishing country England
    Document type Journal Article
    ZDB-ID 2835327-4
    ISSN 2055-0936
    ISSN 2055-0936
    DOI 10.1186/s40794-022-00178-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Diagnostic management of blastic plasmacytoid dendritic cell neoplasm (BPDCN) in close interaction with therapeutic considerations.

    Shumilov, Evgenii / Mazzeo, Paolo / Ghandili, Susanne / Künstner, Axel / Weidemann, Sören / Banz, Yara / Ströbel, Philipp / Pollak, Matthias / Kolloch, Lina / Beltraminelli, Helmut / Kerkhoff, Andrea / Mikesch, Jan-Henrik / Schliemann, Christoph / Haase, Detlef / Wulf, Gerald / Legros, Myriam / Lenz, Georg / Feldmeyer, Laurence / Pabst, Thomas /
    Witte, Hanno / Gebauer, Niklas / Bacher, Ulrike

    Annals of hematology

    2024  Volume 103, Issue 5, Page(s) 1587–1599

    Abstract: Blastic plasmacytoid dendritic cell neoplasm (BPDCN), a rare malignancy derived from plasmacytoid dendritic cells, can mimic both acute leukemia and aggressive T-cell lymphoma. Therapy of this highly aggressive hematological disease should be initiated ... ...

    Abstract Blastic plasmacytoid dendritic cell neoplasm (BPDCN), a rare malignancy derived from plasmacytoid dendritic cells, can mimic both acute leukemia and aggressive T-cell lymphoma. Therapy of this highly aggressive hematological disease should be initiated as soon as possible, especially in light of novel targeted therapies that have become available. However, differential diagnosis of BPDCN remains challenging. This retrospective study aimed to highlight the challenges to timely diagnoses of BPDCN. We documented the diagnostic and clinical features of 43 BPDCN patients diagnosed at five academic hospitals from 2001-2022. The frequency of BPDCN diagnosis compared to AML was 1:197 cases. The median interval from the first documented clinical manifestation to diagnosis of BPDCN was 3 months. Skin (65%) followed by bone marrow (51%) and blood (45%) involvement represented the most common sites. Immunophenotyping revealed CD4 + , CD45 + , CD56 + , CD123 + , HLA-DR + , and TCL-1 + as the most common surface markers. Overall, 86% (e.g. CD33) and 83% (e.g., CD7) showed co-expression of myeloid and T-cell markers, respectively. In the median, we detected five genomic alterations per case including mutational subtypes typically involved in AML: DNA methylation (70%), signal transduction (46%), splicing factors (38%), chromatin modification (32%), transcription factors (32%), and RAS pathway (30%), respectively. The contribution of patients (30%) proceeding to any form of upfront stem cell transplantation (SCT; autologous or allogeneic) was almost equal resulting in beneficial overall survival rates in those undergoing allogeneic SCT (p = 0.0001). BPDCN is a rare and challenging entity sharing various typical characteristics of other hematological diseases. Comprehensive diagnostics should be initiated timely to ensure appropriate treatment strategies.
    MeSH term(s) Humans ; Retrospective Studies ; Leukemia, Myeloid, Acute/pathology ; Bone Marrow/pathology ; HLA-DR Antigens ; Myeloproliferative Disorders/pathology ; Skin Neoplasms/diagnosis ; Skin Neoplasms/therapy ; Skin Neoplasms/metabolism ; Dendritic Cells/pathology ; Hematologic Neoplasms/diagnosis ; Hematologic Neoplasms/therapy ; Hematologic Neoplasms/genetics
    Chemical Substances HLA-DR Antigens
    Language English
    Publishing date 2024-01-09
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1064950-5
    ISSN 1432-0584 ; 0939-5555 ; 0945-8077
    ISSN (online) 1432-0584
    ISSN 0939-5555 ; 0945-8077
    DOI 10.1007/s00277-023-05587-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Swiss Survey on current practices and opinions on clinical constellations triggering the search for PNH clones.

    Rovó, Alicia / Gavillet, Mathilde / Drexler, Beatrice / Keller, Peter / Schneider, Jenny Sarah / Colucci, Giuseppe / Beauverd, Yan / van Dorland, Hendrika Anette / Pollak, Matthias / Schmidt, Adrian / De Gottardi, Andrea / Bissig, Marina / Lehmann, Thomas / Duchosal, Michel A / Zeerleder, Sacha

    Frontiers in medicine

    2023  Volume 10, Page(s) 1200431

    Abstract: This national survey investigated the current practice in Switzerland by collecting participants' opinions on paroxysmal nocturnal hemoglobinuria (PNH) clone assessment and clinical practice.: Aim: This study aimed to investigate clinical indications ... ...

    Abstract This national survey investigated the current practice in Switzerland by collecting participants' opinions on paroxysmal nocturnal hemoglobinuria (PNH) clone assessment and clinical practice.
    Aim: This study aimed to investigate clinical indications prompting PNH clones' assessment and physician's accessibility of a flow cytometry facility, and also to understand clinical attitudes on the follow-up (FU) of patients with PNH clones.
    Methods: The survey includes 16 multiple-choice questions related to PNH and targets physicians with a definite level of experience in the topic using two screener questions. Opinion on clinical management was collected using hypothetical clinical situations. Each participant had the option of being contacted to further discuss the survey results. This was an online survey, and 264 physicians were contacted through email once a week for 5 weeks from September 2020.
    Results: In total, 64 physicians (24.2%) from 23 institutions participated (81.3% hematologists and 67.2% from university hospitals). All had access to flow cytometry for PNH clone testing, with 76.6% having access within their own institution. The main reasons to assess for PNH clones were unexplained thrombosis and/or hemolysis, and/or aplastic anemia (AA). Patients in FU for PNH clones were more likely to be aplastic anemia (AA) and symptomatic PNH. In total, 61% of the participants investigated PNH clones repetitively during FU in AA/myelodysplastic syndromes patients, even when there was no PNH clone found at diagnosis, and 75% of the participants tested at least once a year during FU. Opinions related to clinical management were scattered.
    Conclusion: The need to adhere to guidelines for the assessment, interpretation, and reporting of PNH clones emerges as the most important finding, as well as consensus for the management of less well-defined clinical situations. Even though there are several international guidelines, clear information addressing specific topics such as the type of anticoagulant to use and its duration, as well as the indication for treatment with complement inhibitors in some borderline situations are needed. The analysis and the discussion of this survey provide the basis for understanding the unmet needs of PNH clone assessment and clinical practice in Switzerland.
    Language English
    Publishing date 2023-07-26
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2775999-4
    ISSN 2296-858X
    ISSN 2296-858X
    DOI 10.3389/fmed.2023.1200431
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Correlation of plasma cell assessment by phenotypic methods and molecular profiles by NGS in patients with plasma cell dyscrasias.

    Rebmann Chigrinova, Ekaterina / Porret, Naomi A / Andres, Martin / Wiedemann, Gertrud / Banz, Yara / Legros, Myriam / Pollak, Matthias / Oppliger Leibundgut, Elisabeth / Pabst, Thomas / Bacher, Ulrike

    BMC medical genomics

    2022  Volume 15, Issue 1, Page(s) 203

    Abstract: Background: Next-generation sequencing (NGS) detects somatic mutations in a high proportion of plasma cell dyscrasias (PCD), but is currently not integrated into diagnostic routine. We correlated NGS data with degree of bone marrow (BM) involvement by ... ...

    Abstract Background: Next-generation sequencing (NGS) detects somatic mutations in a high proportion of plasma cell dyscrasias (PCD), but is currently not integrated into diagnostic routine. We correlated NGS data with degree of bone marrow (BM) involvement by cytomorphology (BMC), histopathology (BMH), and multiparameter flow cytometry (MFC) in 90 PCD patients.
    Methods: Of the 90 patients the diagnoses comprised multiple myeloma (n = 77), MGUS (n = 7), AL-amyloidosis (n = 4) or solitary plasmocytoma (n = 2). The NGS panel included eight genes CCND1, DIS3, EGR1, FAM46C (TENT5C), FGFR3, PRDM1, TP53, TRAF3, and seven hotspots in BRAF, IDH1, IDH2, IRF4, KRAS, NRAS.
    Results: Mutations were detected in 64/90 (71%) of cases. KRAS (29%), NRAS (16%) and DIS3 (16%) were most frequently mutated. At least one mutation/sample corresponded to a higher degree of BM involvement with a mean of 11% pathologic PC by MFC (range, 0.002-62%), and ~ 50% (3-100%) as defined by both BMC and BMH.
    Conclusions: The probability of detecting a mutation by NGS in the BM was highest in samples with > 10% clonal PC by MFC, or > 20% PC by BMC/ BMH. We propose further evaluation of these thresholds as a practical cut-off for processing of samples by NGS at initial PCD diagnosis.
    MeSH term(s) High-Throughput Nucleotide Sequencing/methods ; Humans ; Mutation ; Paraproteinemias/genetics ; Paraproteinemias/pathology ; Plasma Cells/pathology ; Proto-Oncogene Proteins B-raf/genetics ; Proto-Oncogene Proteins p21(ras)/genetics ; TNF Receptor-Associated Factor 3/genetics
    Chemical Substances TNF Receptor-Associated Factor 3 ; Proto-Oncogene Proteins B-raf (EC 2.7.11.1) ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2)
    Language English
    Publishing date 2022-09-23
    Publishing country England
    Document type Journal Article
    ZDB-ID 2411865-5
    ISSN 1755-8794 ; 1755-8794
    ISSN (online) 1755-8794
    ISSN 1755-8794
    DOI 10.1186/s12920-022-01346-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Die erste Antwort auf virale Infektionen: Typ I Interferone.

    Pichlmair, Andreas / Pollak, Matthias / Bergthaler, Andreas

    Berliner und Munchener tierarztliche Wochenschrift

    2004  Volume 117, Issue 7-8, Page(s) 252–265

    Abstract: The interferon system is part of the innate immune system in vertebrates. It represents the first line of host defence against viral infections. Virus entry triggers intracellular signalling pathways which lead to the secretion of soluble factors such as ...

    Title translation The first answer to viral infections: type I interferon.
    Abstract The interferon system is part of the innate immune system in vertebrates. It represents the first line of host defence against viral infections. Virus entry triggers intracellular signalling pathways which lead to the secretion of soluble factors such as interferons and other cytokines. Interferons signal to neighbouring cells that a viral infection has occurred and induce an "antiviral state" resulting in inhibition of virus replication. The first recombinant interferons were produced in the 1980ies and were considered to be a major breakthrough. At present, interferons are routinely used in the therapy of certain viral and autoimmune diseases as well as for neoplastic disorders in man. In 2001 the first interferon preparation for veterinary use was licensed in the European Union. This review summarises the molecular mechanisms of the interferon system and the viral counteractions. The current type I interferon therapies in humans are described and an overview of recent clinical studies in veterinary medicine, including cat, dog, horse, cow, sheep, pig, and poultry, is given. We review the potential application of interferons and arguments in favor or against its therapeutic use in veterinary medicine.
    MeSH term(s) Animals ; Animals, Domestic ; Antiviral Agents/immunology ; Antiviral Agents/therapeutic use ; Humans ; Immunity, Innate ; Interferon Type I/immunology ; Interferon Type I/physiology ; Interferon Type I/therapeutic use ; Veterinary Medicine/methods ; Virus Diseases/drug therapy ; Virus Diseases/immunology ; Virus Diseases/veterinary ; Viruses/immunology
    Chemical Substances Antiviral Agents ; Interferon Type I
    Language German
    Publishing date 2004-07
    Publishing country Germany
    Document type English Abstract ; Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 5674-1
    ISSN 0005-9366
    ISSN 0005-9366
    Database MEDical Literature Analysis and Retrieval System OnLINE

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