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  1. Article: Craniofacial and Neurological Phenotype in a Case of Oculodentodigital Syndrome.

    Yapijakis, Christos / Kalogera, Stefania / Angelopoulou, Antonia / Paraskevas, Georgios / Kapaki, Elisabeth

    Advances in experimental medicine and biology

    2022  Volume 1339, Page(s) 325–329

    Abstract: Introduction: Oculodentodigital syndrome (ODDS) is a rare genetic disorder caused by mutations in the gap junction GJA1 gene encoding connexin-43 (chromosome 6q22). A typical ODDS case is presented.: Material and methods: A 40-year-old male patient ... ...

    Abstract Introduction: Oculodentodigital syndrome (ODDS) is a rare genetic disorder caused by mutations in the gap junction GJA1 gene encoding connexin-43 (chromosome 6q22). A typical ODDS case is presented.
    Material and methods: A 40-year-old male patient was examined neurologically and genetically. He had a history of recent parieto-occipital leukodystrophy, some episodes of temporary hearing loss, and characteristic facial features of ODDS. Sequencing of the GJA1 gene was performed in patient's total genomic DNA sample isolated from peripheral blood cells.
    Results: A novel heterozygous missense mutation (443G>A) was identified in the GJA1 gene, resulting in coding for a different amino acid (Arg148Gln).
    Conclusion: The molecular genetic analysis confirmed the diagnosis of ODDS. The novel mutation, located within a calmodulin binding region of connexin-43, probably affects proper channel function.
    MeSH term(s) Adult ; Craniofacial Abnormalities/genetics ; Eye Abnormalities ; Foot Deformities, Congenital/genetics ; Humans ; Male ; Mutation ; Phenotype ; Syndactyly/genetics ; Tooth Abnormalities/genetics
    Language English
    Publishing date 2022-01-13
    Publishing country United States
    Document type Case Reports ; Journal Article
    ISSN 2214-8019 ; 0065-2598
    ISSN (online) 2214-8019
    ISSN 0065-2598
    DOI 10.1007/978-3-030-78787-5_39
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Relevance of Biomarkers in Serum vs. Synovial Fluid in Patients with Knee Osteoarthritis.

    Kalogera, Stefania / Jansen, Mylène P / Bay-Jensen, Anne-Christine / Frederiksen, Peder / Karsdal, Morten A / Thudium, Christian S / Mastbergen, Simon C

    International journal of molecular sciences

    2023  Volume 24, Issue 11

    Abstract: The association between structural changes and pain sensation in osteoarthritis (OA) remains unclear. Joint deterioration in OA leads to the release of protein fragments that can either systemically (serum) or locally (synovial fluid; SF) be targeted as ... ...

    Abstract The association between structural changes and pain sensation in osteoarthritis (OA) remains unclear. Joint deterioration in OA leads to the release of protein fragments that can either systemically (serum) or locally (synovial fluid; SF) be targeted as biomarkers and describe structural changes and potentially pain. Biomarkers of collagen type I (C1M), type II (C2M), type III (C3M), type X (C10C), and aggrecan (ARGS) degradation were measured in the serum and SF of knee OA patients. Spearman's rank correlation was used to assess the correlation of the biomarkers' levels between serum and SF. Linear regression adjusted for confounders was used to evaluate the associations between the biomarkers' levels and clinical outcomes. The serum C1M levels were negatively associated with subchondral bone density. The serum C2M levels were negatively associated with KL grade and positively associated with minimum joint space width (minJSW). The C10C levels in SF were negatively associated with minJSW and positively associated with KL grade and osteophyte area. Lastly, the serum C2M and C3M levels were negatively associated with pain outcomes. Most of the biomarkers seemed to mainly be associated with structural outcomes. The overall biomarkers of extracellular matrix (ECM) remodeling in serum and SF may provide different information and reflect different pathogenic processes.
    MeSH term(s) Humans ; Osteoarthritis, Knee/metabolism ; Synovial Fluid/metabolism ; Biomarkers/metabolism ; Collagen Type I/metabolism ; Pain/metabolism
    Chemical Substances Biomarkers ; Collagen Type I
    Language English
    Publishing date 2023-05-30
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms24119483
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: The Hamster Model of Sequential Oral Carcinogenesis: An Update.

    Yapijakis, Christos / Kalogera, Stefania / Papakosta, Veronica / Vassiliou, Stavros

    In vivo (Athens, Greece)

    2019  Volume 33, Issue 6, Page(s) 1751–1755

    Abstract: Animal models are valuable tools for studying human cancer as well as for preclinical trials. The hamster model of chemically induced sequential oral carcinogenesis was developed by our group a decade ago in order to study the multistep process of ... ...

    Abstract Animal models are valuable tools for studying human cancer as well as for preclinical trials. The hamster model of chemically induced sequential oral carcinogenesis was developed by our group a decade ago in order to study the multistep process of alterations in gene expression during carcinogenesis. The purpose of this review was to discuss the utility of the hamster model of sequential oral carcinogenesis regarding the deciphering of the main pathways altered. An extended search for articles that cited that specific animal models was performed. Many studies have used the hamster model of sequential oral carcinogenesis either for evaluation of the expression of biomarkers alone, or for applying chemopreventive compounds and other therapeutic methods, or combining the use of biomarkers with the anticancer effect of some compounds. It seems that this animal model is indeed a useful tool that enables the study of cell biology, pathology and therapeutics of oral cancer.
    MeSH term(s) Animals ; Biomarkers, Tumor/metabolism ; Carcinogenesis/metabolism ; Carcinogenesis/pathology ; Carcinoma, Squamous Cell/metabolism ; Carcinoma, Squamous Cell/pathology ; Cricetinae ; Disease Models, Animal ; Humans ; Mouth Neoplasms/metabolism ; Mouth Neoplasms/pathology
    Chemical Substances Biomarkers, Tumor
    Language English
    Publishing date 2019-11-25
    Publishing country Greece
    Document type Journal Article ; Review
    ZDB-ID 807031-3
    ISSN 1791-7549 ; 0258-851X
    ISSN (online) 1791-7549
    ISSN 0258-851X
    DOI 10.21873/invivo.11665
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2288: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article ; Online: Hot cross bun sign and prominent cerebellar peduncle involvement in a patient with oculodentodigital dysplasia.

    Constantinides, Vasilios C / Paraskevas, George P / Kalogera, Stefania / Yapijakis, Christos / Kapaki, Elisabeth

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2020  Volume 42, Issue 1, Page(s) 343–345

    MeSH term(s) Craniofacial Abnormalities ; Eye Abnormalities/complications ; Eye Abnormalities/diagnostic imaging ; Foot Deformities, Congenital ; Humans ; Syndactyly ; Tooth Abnormalities
    Language English
    Publishing date 2020-07-16
    Publishing country Italy
    Document type Letter
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-020-04569-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1877: 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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  5. Article ; Online: The activation fragment of PAR2 is elevated in serum from patients with rheumatoid arthritis and reduced in response to anti-IL6R treatment.

    Kalogera, Stefania / He, Yi / Bay-Jensen, Anne-Christine / Gantzel, Thorbjørn / Sun, Shu / Manon-Jensen, Tina / Karsdal, Morten Asser / Thudium, Christian S

    Scientific reports

    2021  Volume 11, Issue 1, Page(s) 24285

    Abstract: Osteoarthritis (OA) and rheumatoid arthritis (RA) are serious and painful diseases. Protease-activated receptor 2 (PAR2) is involved in the pathology of both OA and RA including roles in synovial hyperplasia, cartilage destruction, osteophyogenesis and ... ...

    Abstract Osteoarthritis (OA) and rheumatoid arthritis (RA) are serious and painful diseases. Protease-activated receptor 2 (PAR2) is involved in the pathology of both OA and RA including roles in synovial hyperplasia, cartilage destruction, osteophyogenesis and pain. PAR2 is activated via cleavage of its N-terminus by serine proteases. In this study a competitive ELISA assay was developed targeting the 36-amino acid peptide that is cleaved and released after PAR2 activation (PRO-PAR2). Technical assay parameters including antibody specificity, intra- and inter-assay variation (CV%), linearity, accuracy, analyte stability and interference were evaluated. PRO-PAR2 release was confirmed after in vitro cleavage of PAR2 recombinant protein and treatment of human synovial explants with matriptase. Serum levels of 22 healthy individuals, 23 OA patients and 15 RA patients as well as a subset of RA patients treated with tocilizumab were evaluated. The PRO-PAR2 antibody was specific for the neo-epitope and intra-inter assay CV% were 6.4% and 5.8% respectively. In vitro cleavage and matriptase treated explants showed increased PRO-PAR2 levels compared to controls. In serum, PRO-PAR2 levels were increased in RA patients and decreased in RA patients treated with tocilizumab. In conclusion, PRO-PAR2 may be a potential biomarker for monitoring RA disease and pharmacodynamics of treatment.
    MeSH term(s) Adult ; Aged ; Antibodies/chemistry ; Antibodies, Monoclonal/chemistry ; Antibodies, Monoclonal, Humanized/therapeutic use ; Arthritis, Rheumatoid/blood ; Arthritis, Rheumatoid/immunology ; Arthritis, Rheumatoid/therapy ; Biomarkers/metabolism ; Cartilage/metabolism ; Epitopes/chemistry ; Female ; Humans ; Immunoassay ; Linear Models ; Male ; Middle Aged ; Osteoarthritis/metabolism ; Receptor, PAR-2/blood ; Receptors, Interleukin-6/antagonists & inhibitors ; Reproducibility of Results ; Serine Endopeptidases ; Synovial Fluid/metabolism ; Synovial Membrane/metabolism ; Young Adult
    Chemical Substances Antibodies ; Antibodies, Monoclonal ; Antibodies, Monoclonal, Humanized ; Biomarkers ; Epitopes ; F2RL1 protein, human ; IL6R protein, human ; Receptor, PAR-2 ; Receptors, Interleukin-6 ; Serine Endopeptidases (EC 3.4.21.-) ; matriptase (EC 3.4.21.-) ; tocilizumab (I031V2H011)
    Language English
    Publishing date 2021-12-20
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-021-03346-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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