A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition
Breast. 2024 Mar 25;75:103721. doi: 10.1016/j.breast.2024.103721. Online ahead of print.ABSTRACTGermline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.Tyr337PhefsTer37). The variant was found in 21/10,204 (0.21%) Czech FBC patients compared to 1/3250 (0.03%) controls (p = 0.04) and in 4/3639 (0.11%) FBC patients from an independent German dataset. In addition, we found this variant in 5/2966 (0.17%) Czech (but none o...
Source: Breast - March 30, 2024 Category: Cancer & Oncology Authors: Petra Zemankova Marta Cerna Klara Horackova Corinna Ernst Jana Soukupova Marianna Borecka Britta Bl ümcke Leona Cerna Monika Cerna Vaclava Curtisova Tatana Dolezalova Petra Duskova Lenka Dvorakova Lenka Foretova Ondrej Havranek Jan Hauke Eric Hahnen Milo Source Type: research
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition
Breast. 2024 Mar 25;75:103721. doi: 10.1016/j.breast.2024.103721. Online ahead of print.ABSTRACTGermline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.Tyr337PhefsTer37). The variant was found in 21/10,204 (0.21%) Czech FBC patients compared to 1/3250 (0.03%) controls (p = 0.04) and in 4/3639 (0.11%) FBC patients from an independent German dataset. In addition, we found this variant in 5/2966 (0.17%) Czech (but none o...
Source: Breast - March 30, 2024 Category: Cancer & Oncology Authors: Petra Zemankova Marta Cerna Klara Horackova Corinna Ernst Jana Soukupova Marianna Borecka Britta Bl ümcke Leona Cerna Monika Cerna Vaclava Curtisova Tatana Dolezalova Petra Duskova Lenka Dvorakova Lenka Foretova Ondrej Havranek Jan Hauke Eric Hahnen Milo Source Type: research
Pooling of samples to optimise SARS-CoV-2 detection in nasopharyngeal swabs and gargle lavage self-samples for covid-19 diagnostics and surveillance
. (Source: Infectious Diseases)
Source: Infectious Diseases - March 29, 2024 Category: Infectious Diseases Authors: Ondrej BouskaVladimira KoudelakovaSona GurskaKaterina KubanovaRastislav SlavkovskyHana JaworekJana VrbkovaPetr DzubakMarian Hajducha Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech R Source Type: research
Lipocalin-2: a novel potential therapy for GVHD
Trends Immunol. 2024 Mar 27:S1471-4906(24)00049-8. doi: 10.1016/j.it.2024.03.004. Online ahead of print.ABSTRACTCzech et al. used mouse models of allogeneic hematopoietic stem cell transplantation (allo-HCT) to investigate the role of lipocalin-2 (LCN2) as a newfound regulator of intestinal graft-versus-host disease (GVHD). Administration of recombinant LCN2 protein after disease onset prevented GVHD progression, suggesting that it may play a role in reversing tissue damage that has already begun.PMID:38548552 | DOI:10.1016/j.it.2024.03.004 (Source: Trends in Immunology)
Source: Trends in Immunology - March 28, 2024 Category: Allergy & Immunology Authors: Kate A Markey Source Type: research
Lipocalin-2: a novel potential therapy for GVHD
Trends Immunol. 2024 Mar 27:S1471-4906(24)00049-8. doi: 10.1016/j.it.2024.03.004. Online ahead of print.ABSTRACTCzech et al. used mouse models of allogeneic hematopoietic stem cell transplantation (allo-HCT) to investigate the role of lipocalin-2 (LCN2) as a newfound regulator of intestinal graft-versus-host disease (GVHD). Administration of recombinant LCN2 protein after disease onset prevented GVHD progression, suggesting that it may play a role in reversing tissue damage that has already begun.PMID:38548552 | DOI:10.1016/j.it.2024.03.004 (Source: Trends in Immunology)
Source: Trends in Immunology - March 28, 2024 Category: Allergy & Immunology Authors: Kate A Markey Source Type: research
Lipocalin-2: a novel potential therapy for GVHD
Trends Immunol. 2024 Mar 27:S1471-4906(24)00049-8. doi: 10.1016/j.it.2024.03.004. Online ahead of print.ABSTRACTCzech et al. used mouse models of allogeneic hematopoietic stem cell transplantation (allo-HCT) to investigate the role of lipocalin-2 (LCN2) as a newfound regulator of intestinal graft-versus-host disease (GVHD). Administration of recombinant LCN2 protein after disease onset prevented GVHD progression, suggesting that it may play a role in reversing tissue damage that has already begun.PMID:38548552 | DOI:10.1016/j.it.2024.03.004 (Source: Trends in Immunology)
Source: Trends in Immunology - March 28, 2024 Category: Allergy & Immunology Authors: Kate A Markey Source Type: research
Lipocalin-2: a novel potential therapy for GVHD
Trends Immunol. 2024 Mar 27:S1471-4906(24)00049-8. doi: 10.1016/j.it.2024.03.004. Online ahead of print.ABSTRACTCzech et al. used mouse models of allogeneic hematopoietic stem cell transplantation (allo-HCT) to investigate the role of lipocalin-2 (LCN2) as a newfound regulator of intestinal graft-versus-host disease (GVHD). Administration of recombinant LCN2 protein after disease onset prevented GVHD progression, suggesting that it may play a role in reversing tissue damage that has already begun.PMID:38548552 | DOI:10.1016/j.it.2024.03.004 (Source: Trends in Immunology)
Source: Trends in Immunology - March 28, 2024 Category: Allergy & Immunology Authors: Kate A Markey Source Type: research
Lipocalin-2: a novel potential therapy for GVHD
Trends Immunol. 2024 Mar 27:S1471-4906(24)00049-8. doi: 10.1016/j.it.2024.03.004. Online ahead of print.ABSTRACTCzech et al. used mouse models of allogeneic hematopoietic stem cell transplantation (allo-HCT) to investigate the role of lipocalin-2 (LCN2) as a newfound regulator of intestinal graft-versus-host disease (GVHD). Administration of recombinant LCN2 protein after disease onset prevented GVHD progression, suggesting that it may play a role in reversing tissue damage that has already begun.PMID:38548552 | DOI:10.1016/j.it.2024.03.004 (Source: Trends in Immunology)
Source: Trends in Immunology - March 28, 2024 Category: Allergy & Immunology Authors: Kate A Markey Source Type: research
Lipocalin-2: a novel potential therapy for GVHD
Trends Immunol. 2024 Mar 27:S1471-4906(24)00049-8. doi: 10.1016/j.it.2024.03.004. Online ahead of print.ABSTRACTCzech et al. used mouse models of allogeneic hematopoietic stem cell transplantation (allo-HCT) to investigate the role of lipocalin-2 (LCN2) as a newfound regulator of intestinal graft-versus-host disease (GVHD). Administration of recombinant LCN2 protein after disease onset prevented GVHD progression, suggesting that it may play a role in reversing tissue damage that has already begun.PMID:38548552 | DOI:10.1016/j.it.2024.03.004 (Source: Trends in Immunology)
Source: Trends in Immunology - March 28, 2024 Category: Allergy & Immunology Authors: Kate A Markey Source Type: research
Lipocalin-2: a novel potential therapy for GVHD
Trends Immunol. 2024 Mar 27:S1471-4906(24)00049-8. doi: 10.1016/j.it.2024.03.004. Online ahead of print.ABSTRACTCzech et al. used mouse models of allogeneic hematopoietic stem cell transplantation (allo-HCT) to investigate the role of lipocalin-2 (LCN2) as a newfound regulator of intestinal graft-versus-host disease (GVHD). Administration of recombinant LCN2 protein after disease onset prevented GVHD progression, suggesting that it may play a role in reversing tissue damage that has already begun.PMID:38548552 | DOI:10.1016/j.it.2024.03.004 (Source: Trends in Immunology)
Source: Trends in Immunology - March 28, 2024 Category: Allergy & Immunology Authors: Kate A Markey Source Type: research
Exposure to benzotriazoles and benzothiazoles in Czech male population and its associations with biomarkers of liver function, serum lipids and oxidative stress
ConclusionThis is the first study to investigate BT exposure in Central Europe, including potentially exposed firefighters. The findings showed a high prevalence of BTs in the study population, the relevance of 1M-BTR as a new biomarker of exposure, and an urgent need for further research into associated adverse health outcomes.Graphical abstract (Source: International Archives of Occupational and Environmental Health)
Source: International Archives of Occupational and Environmental Health - March 28, 2024 Category: Occupational Health Source Type: research
Schwannoma of the phrenic nerve. A case report
CONCLUSIONS: Differential diagnosis of mediastinal tumours is very difficult; however, in the case of circumscribed tumours not invading the surrounding tissues, proceeding to surgical revision, with the complete removal of the tumour, is possible, even without determining the histological nature. Minimally invasive surgical techniques dominate the treatment of neurogenic tumors of the mediastinum; they are associated with minimal complications and allow a rapid return of the patient to their normal activities.PMID:38533732 | DOI:10.5507/bp.2024.011 (Source: Biomedical Papers of the Medical Faculty of the Univ Palacky Olomouc Czech Repub)
Source: Biomedical Papers of the Medical Faculty of the Univ Palacky Olomouc Czech Repub - March 27, 2024 Category: Biomedical Science Authors: Josef Chudacek Tomas Bohanes Marek Szkorupa Martin Stasek Jan Hanuliak Daniela Skanderova Dusan Klos Source Type: research
