Recently added

DSpace/Manakin Repository

UMC Repository: Recent submissions

  • Effect of intra-partum azithromycin on the development of the infant nasopharyngeal microbiota: A post hoc analysis of a double-blind randomized trial 
    Sanyang, Bakary; de Silva, Thushan I.; Kanteh, Abdoulie; Bojang, Abdoulie; Manneh, Jarra; Piters, Wouter A.A.de Steenhuijsen; Peno, Chikondi; Bogaert, Debby; Sesay, Abdul Karim; Roca, Anna (Elsevier, 2022-09)
    Background: Sepsis is a leading cause of neonatal death. Intrapartum azithromycin reduces neonatal nasopharyngeal carriage of potentially pathogenic bacteria, a prerequisite for sepsis. Early antibiotic exposure has been ...
  • Bacterial and fungal communities in tracheal aspirates of intubated COVID-19 patients: a pilot study 
    Ruiz-Rodriguez, Alicia; Lusarreta-Parga, Paula; de Steenhuijsen Piters, Wouter A.A.; Koppensteiner, Lilian; Balcazar-Lopez, Carlos E.; Campbell, Robyn; Dewar, Rebecca; McHugh, Martin P.; Dockrell, David; Templeton, Kate E.; Bogaert, Debby (Nature Publishing Group, 2022-06-14)
    Co-infections with bacterial or fungal pathogens could be associated with severity and outcome of disease in COVID-19 patients. We, therefore, used a 16S and ITS-based sequencing approach to assess the biomass and composition ...
  • Early-life viral infections are associated with disadvantageous immune and microbiota profiles and recurrent respiratory infections 
    de Steenhuijsen Piters, Wouter A.A.; Watson, Rebecca L.; de Koff, Emma M.; Hasrat, Raiza; Arp, Kayleigh; Chu, Mei Ling J.N.; de Groot, Pieter C.M.; van Houten, Marlies A.; Sanders, Elisabeth A.M.; Bogaert, Debby (Nature Research, 2022-02)
    The respiratory tract is populated by a specialized microbial ecosystem, which is seeded during and directly following birth. Perturbed development of the respiratory microbial community in early-life has been associated ...
  • The microbiota in respiratory tract infections: from association to intervention 
    Koenen, Mischa H.; De Steenhuijsen Piters, Wouter A.A.; Bogaert, Debby; Verhagen, Lilly M. (Lippincott Williams & Wilkins, 2022-06-01)
    Purpose of reviewThe respiratory microbiota has a role in respiratory tract infection (RTI) pathogenesis. On the mucosa, the respiratory microbiota interacts with potential pathogenic viruses, bacteria and the host immune ...
  • Characteristics and outcomes of an international cohort of 600 000 hospitalized patients with COVID-19 
    ISARIC Clinical Characterisation Group (Oxford University Press, 2023-04-01)
    Background: We describe demographic features, treatments and clinical outcomes in the International Severe Acute Respiratory and emerging Infection Consortium (ISARIC) COVID-19 cohort, one of the world’s largest international, ...
  • Validation of extracorporeal membrane oxygenation mortality prediction and severity of illness scores in an international COVID-19 cohort 
    ISARIC Clinical Characterisation Group (Wiley-Blackwell, 2023-09)
    Background: Veno-venous extracorporeal membrane oxygenation (V-V ECMO) is a lifesaving support modality for severe respiratory failure, but its resource-intensive nature led to significant controversy surrounding its use ...
  • The P323L substitution in the SARS-CoV-2 polymerase (NSP12) confers a selective advantage during infection 
    ISARIC4C Investigators (BioMed Central, 2023-03-13)
    Background: The mutational landscape of SARS-CoV-2 varies at the dominant viral genome sequence and minor genomic variant population. During the COVID-19 pandemic, an early substitution in the genome was the D614G change ...
  • Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study 
    Atmar, Khaled; Ruivenkamp, Claudia A.L.; Hooimeijer, Louise; Nibbeling, Esther A.R.; Eckhardt, Corien L.; Huisman, Elise J.; Lankester, Arjan C.; Bartels, Marije; Santen, Gijs W.E.; Smiers, Frans J.; van der Burg, Mirjam; Mohseny, Alexander B. (Frontiers Media S. A., 2022-04-27)
    Background: Severe multilineage cytopenia in childhood caused by bone marrow failure (BMF) often represents a serious condition requiring specific management. Patients are at risk for invasive infections and bleeding ...
  • Functional and Immune Modulatory Characteristics of Bone Marrow Mesenchymal Stromal Cells in Patients With Aplastic Anemia: A Systematic Review 
    Atmar, Khaled; Tulling, Adam J.; Lankester, Arjan C.; Bartels, Marije; Smiers, Frans J.; van der Burg, Mirjam; Mohseny, Alexander B. (Frontiers Media S. A., 2022-03-09)
    Background: In most patients with aplastic anemia (AA), the diagnosis is limited to a description of the symptoms. Lack of understanding of the underlying pathophysiological mechanisms causing bone marrow failure (BMF), ...
  • Nationwide study of eculizumab in paroxysmal nocturnal hemoglobinuria: Evaluation of treatment indications and outcomes 
    the Dutch PNH Working Group (Wiley-Blackwell, 2023-06)
    Eculizumab is an effective treatment for paroxysmal nocturnal hemoglobinuria (PNH). However, considering the risk of life-threatening meningococcal disease, life-long duration and costs, there are strict criteria for ...
  • HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR) 
    Pogozhykh, Denys; Yilmaz Karapinar, Deniz; Klimiankou, Maksim; Gerschmann, Natali; Ebetsberger-Dachs, Georg; Palmblad, Jan; Carlsson, Göran; Masmas, Tania; Kinsey, Sally; Bartels, Marije; Mellor-Heineke, Sabine; Welte, Karl; Skokowa, Julia; Zeidler, Cornelia (Wiley-Blackwell, 2023-07)
    HAX1-related congenital neutropenia (HAX1-CN) is a rare autosomal recessive disorder caused by pathogenic variants in the HAX1 gene. HAX1-CN patients suffer from bone marrow failure as assessed by a maturation arrest of ...
  • High-throughput functional assay in cystic fibrosis patient-derived organoids allows drug repurposing 
    Spelier, Sacha; de Poel, Eyleen; Ithakisiou, Georgia N.; Suen, Sylvia W.F.; Hagemeijer, Marne C.; Muilwijk, Danya; Vonk, Annelotte M.; Brunsveld, Jesse E.; Kruisselbrink, Evelien; van der Ent, Cornelis K.; Beekman, Jeffrey M. (European Respiratory Society, 2023-01)
    Background Cystic fibrosis (CF) is a rare hereditary disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Recent therapies enable effective restoration of CFTR function of the ...
  • Readthrough compounds for nonsense mutations: bridging the translational gap 
    Spelier, Sacha; van Doorn, Eveline P.M.; van der Ent, Cornelis K.; Beekman, Jeffrey M.; Koppens, Martijn A.J. (Elsevier Limited, 2023-04)
    Approximately 10% of all pathological mutations are nonsense mutations that are responsible for several severe genetic diseases for which no treatment regimens are currently available. The most widespread strategy for ...
  • Use of 2,6-diaminopurine as a potent suppressor of UGA premature stop codons in cystic fibrosis 
    Leroy, Catherine; Spelier, Sacha; Essonghe, Nadège Charlene; Poix, Virginie; Kong, Rebekah; Gizzi, Patrick; Bourban, Claire; Amand, Séverine; Bailly, Christine; Guilbert, Romain; Hannebique, David; Persoons, Philippe; Arhant, Gwenaëlle; Prévotat, Anne; Reix, Philippe; Hubert, Dominique; Gérardin, Michèle; Chamaillard, Mathias; Prevarskaya, Natalia; Rebuffat, Sylvie; Shapovalov, George; Beekman, Jeffrey; Lejeune, Fabrice (Cell Press, 2023-04-05)
    Nonsense mutations are responsible for around 10% of cases of genetic diseases, including cystic fibrosis. 2,6-diaminopurine (DAP) has recently been shown to promote efficient readthrough of UGA premature stop codons. In ...
  • Characteristics, Treatment Strategies and Outcome in Cardiogenic Shock Complicating Acute Myocardial Infarction: A Contemporary Dutch Cohort 
    Peters, Elma J; Berg, Sanne Ten; Bogerd, Margriet; Timmermans, Marijke J C; Kraaijeveld, Adriaan O; Bunge, Jeroen J H; Teeuwen, Koen; Lipsic, Erik; Sjauw, Krischan D; Geuns, Robert-Jan M van; Dedic, Admir; Dubois, Eric A; Meuwissen, Martijn; Danse, Peter; Verouden, Niels J W; Bleeker, Gabe; Cabezas, José M Montero; Ferreira, Irlando A; Engström, Annemarie E; Lagrand, Wim K; Otterspoor, Luuk C; Vlaar, Alexander P J; Henriques, José P S; On Behalf Of The Participating Centers Of The Pci Registration Committee Of The Netherlands Heart Registration (Multidisciplinary Digital Publishing Institute (MDPI), 2023-08-10)
    Cardiogenic shock (CS) complicating acute myocardial infarction (AMI) is associated with high morbidity and mortality. Our study aimed to gain insights into patient characteristics, outcomes and treatment strategies in CS ...
  • Redefining Hypo- and Hyper-Responding Phenotypes of CFTR Mutants for Understanding and Therapy 
    Hillenaar, Tamara; Beekman, Jeffrey; van der Sluijs, Peter; Braakman, Ineke (Multidisciplinary Digital Publishing Institute (MDPI), 2022-12)
    Mutations in CFTR cause misfolding and decreased or absent ion-channel function, resulting in the disease Cystic Fibrosis. Fortunately, a triple-modulator combination therapy (Trikafta) has been FDA-approved for 178 ...
  • The SLC26A9 inhibitor S9-A13 provides no evidence for a role of SLC26A9 in airway chloride secretion but suggests a contribution to regulation of ASL pH and gastric proton secretion 
    Jo, Sungwoo; Centeio, Raquel; Park, Jinhong; Ousingsawat, Jiraporn; Jeon, Dong kyu; Talbi, Khaoula; Schreiber, Rainer; Ryu, Kunhi; Kahlenberg, Kristin; Somoza, Veronika; Delpiano, Livia; Gray, Michael A.; Amaral, Margarida D.; Railean, Violeta; Beekman, Jeffrey M.; Rodenburg, Lisa W.; Namkung, Wan; Kunzelmann, Karl (John Wiley & Sons Inc., 2022-11)
    The solute carrier 26 family member A9 (SLC26A9) is an epithelial anion transporter that is assumed to contribute to airway chloride secretion and surface hydration. Whether SLC26A9 or CFTR is responsible for airway Cl− ...
  • A PI3Kγ mimetic peptide triggers CFTR gating, bronchodilation, and reduced inflammation in obstructive airway diseases 
    Ghigo, Alessandra; Murabito, Alessandra; Sala, Valentina; Pisano, Anna Rita; Bertolini, Serena; Gianotti, Ambra; Caci, Emanuela; Montresor, Alessio; Premchandar, Aiswarya; Pirozzi, Flora; Ren, Kai; Sala, Angela Della; Mergiotti, Marco; Richter, Wito; de Poel, Eyleen; Matthey, Michaela; Caldrer, Sara; Cardone, Rosa A.; Civiletti, Federica; Costamagna, Andrea; Quinney, Nancy L.; Butnarasu, Cosmin; Visentin, Sonja; Ruggiero, Maria Rosaria; Baroni, Simona; Crich, Simonetta Geninatti; Ramel, Damien; Laffargue, Muriel; Tocchetti, Carlo G.; Levi, Renzo; Conti, Marco; Lu, Xiao Yun; Melotti, Paola; Sorio, Claudio; De Rose, Virginia; Facchinetti, Fabrizio; Fanelli, Vito; Wenzel, Daniela; Fleischmann, Bernd K.; Mall, Marcus A.; Beekman, Jeffrey; Laudanna, Carlo; Gentzsch, Martina; Lukacs, Gergely L.; Pedemonte, Nicoletta; Hirsch, Emilio (American Association for the Advancement of Science, 2022-03-30)
    Cyclic adenosine 3',5'-monophosphate (cAMP)-elevating agents, such as β2-adrenergic receptor (β2-AR) agonists and phosphodiesterase (PDE) inhibitors, remain a mainstay in the treatment of obstructive respiratory diseases, ...
  • Validating organoid-derived human intestinal monolayers for personalized therapy in cystic fibrosis 
    Birimberg-Schwartz, Liron; Ip, Wan; Bartlett, Claire; Avolio, Julie; Vonk, Annelotte M.; Gunawardena, Tarini; Du, Kai; Esmaeili, Mohsen; Beekman, Jeffrey M.; Rommens, Johanna; Strug, Lisa; Bear, Christine E.; Moraes, Theo J.; Gonska, Tanja (Life Science Alliance, LLC, 2023-06)
    Highly effective drugs modulating the defective protein encoded by the CFTR gene have revolutionized cystic fibrosis (CF) therapy. Preclinical drug-testing on human nasal epithelial (HNE) cell cultures and 3-dimensional ...
  • Targeted locus amplification reveals heterogeneity between and within CFTR genotypes and association with CFTR function in patient-derived intestinal organoids 
    Lefferts, J. W.; Boersma, V.; Nieuwenhuijze, N. D.A.; Suen, S. W.F.; Hajo, K.; Collantes, N. Sanchez; Vermeulen, C.; Groeneweg, T.; Hagemeijer, M. C.; de Jonge, H. R.; van der Ent, C. K.; Splinter, E.; Beekman, J. M. (Elsevier, 2023-05)
    Background: Cystic fibrosis (CF) disease severity can be highly variable, even between people with CF (pwCF) with similar genotypes. Here we use patient-derived intestinal organoids to study the influence of genetic variation ...