0000000001241620
AUTHOR
C. Stevens
showing 5 related works from this author
Supplementary Material for: Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View
2017
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adult woman offered per…
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
2021
Background The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally. Methods Using FHSC global registry data, we did a cross-sectional assessment of adults (aged 18 years or older) with a clinical or genetic diagnosis of probable or definite heterozygous familial hypercholesterolaemia at the time they were entered into the registries. Dat…
Post-anaesthesia pulmonary complications after use of muscle relaxants (POPULAR): a multicentre, prospective observational study
2019
Background: Results from retrospective studies suggest that use of neuromuscular blocking agents during general anaesthesia might be linked to postoperative pulmonary complications. We therefore aimed to assess whether the use of neuromuscular blocking agents is associated with postoperative pulmonary complications. Methods: We did a multicentre, prospective observational cohort study. Patients were recruited from 211 hospitals in 28 European countries. We included patients (aged ≥18 years) who received general anaesthesia for any in-hospital procedure except cardiac surgery. Patient characteristics, surgical and anaesthetic details, and chart review at discharge were prospectively collecte…
Sensitivity of the Cherenkov Telescope Array to a dark matter signal from the Galactic centre
2021
Full list of authors: Acharyya, A.; Adam, R.; Adams, C.; Agudo, I.; Aguirre-Santaella, A.; Alfaro, R.; Alfaro, J.; Alispach, C.; Aloisio, R.; Alves Batista, R.; Amati, L.; Ambrosi, G.; Angüner, E. O.; Antonelli, L. A.; Aramo, C.; Araudo, A.; Armstrong, T.; Arqueros, F.; Asano, K.; Ascasíbar, Y. Ashley, M.; Balazs, C.; Ballester, O.; Baquero Larriva, A.; Barbosa Martins, V.; Barkov, M.; Barres de Almeida, U.; Barrio, J. A.; Bastieri, D.; Becerra, J.; Beck, G.; Becker Tjus, J.; Benbow, W.; Benito, M.; Berge, D.; Bernardini, E.; Bernlöhr, K.; Berti, A.; Bertucci, B.; Beshley, V.; Biasuzzi, B.; Biland, A.; Bissaldi, E.; Biteau, J.; Blanch, O.; Blazek, J.; Bocchino, F.; Boisson, C.; Bonneau Arbe…
Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.201…
2016
non presente