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UMC Repository: Recent submissions

  • De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias 
    Harms, Frederike L.; Dingemans, Alexander J.M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Müller, Christian; Niermeijer, Jikke Mien F.; Fischer, Jan; Jahn, Arne; Hübner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; van der Smagt, Jasper; Ernst, Robert; van Binsbergen, Ellen; Mancini, Grazia M.S.; van Slegtenhorst, Marjon; Barakat, Tahsin S.; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B.A.; Kutsche, Kerstin (Lippincott Williams & Wilkins, 2023-10)
    Purpose: The SF3B splicing complex is composed of SF3B1-6 and PHF5A. We report a developmental disorder caused by de novo variants in PHF5A. Methods: Clinical, genomic, and functional studies using subject-derived fibroblasts ...
  • Culture, ethnicity, and socio-economic status as determinants of the management of patients with advanced heart failure who need palliative care: A clinical consensus statement from the Heart Failure Association (HFA) of the ESC, the ESC Patient Forum, and the European Association of Palliative Care 
    Hill, Loreena; Baruah, Resham; Beattie, James M.; Bistola, Vasiliki; Castiello, Teresa; Celutkienė, Jelena; Di Stolfo, Giuseppe; Geller, Tal Prager; Lambrinou, Ekaterini; Mindham, Richard; McIlfatrick, Sonja; Strömberg, Anna; Jaarsma, Tiny (Oxford University Press, 2023-09)
    The delivery of effective healthcare entails the configuration and resourcing of health economies to address the burden of disease, including acute and chronic heart failure, that affects local populations. Increasing ...
  • Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration 
    Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; van der Smagt, Jasper J.; van Gassen, Koen; Telethon Undiagnosed Diseases Program (TUDP) consortium; TMEM63B collaborators, The Genomics England Research Consortium (Cell Press, 2023-08-03)
    By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological ...
  • Acute joint inflammation induces a sharp increase in the number of synovial fluid EVs and modifies their phospholipid profile 
    Varela, Laura; van de Lest, Chris H.A.; Boere, Janneke; Libregts, Sten F.W.M.; Lozano-Andrés, Estefanía; van Weeren, P. René; Wauben, Marca H.M. (Elsevier, 2023-10)
    Inflammation is the hallmark of most joint disorders. However, the precise regulation of induction, perpetuation, and resolution of joint inflammation is not entirely understood. Since extracellular vesicles (EVs) are ...
  • Long Term Health Related Quality of Life After Acute Type B Aortic Dissection: a Cross Sectional Survey Study 
    Meccanici, Frederike; Thijssen, Carlijn G.E.; Gökalp, Arjen L.; Bom, Annemijn W.; de Bruin, Jorg L.; Bekkers, Jos A.; van Kimmenade, Roland R.J.; Geuzebroek, Guillaume S.C.; Poyck, Paul; Woorst, Joost J.ter; Peels, Kathinka; Sjatskig, Jelena; Heijmen, Robin H.; Post, Marco C.; Mokhles, Mostafa M.; Verhagen, Hence J.M.; Takkenberg, Johanna J.M.; Roos-Hesselink, Jolien W. (W.B. Saunders Ltd, 2023-09)
    Objective: Acute type B aortic dissection (ATBD) is a rare yet serious cardiovascular event that potentially has an impact on health related quality of life (HRQoL). However, long term follow up data on this topic are ...
  • Reliability of 2D video analysis assessing running kinematic variables in patients with exercise-related leg pain in a primary care practice 
    Vergeer, Rob; Bloo, Hans; Backx, Frank; Scheltinga, Marc; Bakker, Eric (Elsevier, 2023-09)
    Background: Suboptimal lower limb and trunk positionings is known to influence exercise-related leg pain (ERLP). It is unknown whether simple 2D video analysis is useful for recording and interpreting running variables in ...
  • De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 
    Morleo, Manuela; Venditti, Rossella; Theodorou, Evangelos; Briere, Lauren C.; Rosello, Marion; Tirozzi, Alfonsina; Tammaro, Roberta; Al-Badri, Nour; High, Frances A.; Shi, Jiahai; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; van der Smagt, Jasper; Kroes, Hester Y.; van Gassen, Koen L.I.; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program (Cell Press, 2023-08-03)
    Phosphoinositides (PIs) are membrane phospholipids produced through the local activity of PI kinases and phosphatases that selectively add or remove phosphate groups from the inositol head group. PIs control membrane ...
  • Epidemiology, biology, and management of venous thromboembolism in gliomas: An interdisciplinary review 
    Jo, Jasmin; Diaz, Maria; Horbinski, Craig; Mackman, Nigel; Bagley, Stephen; Broekman, Marika; Rak, Janusz; Perry, James; Pabinger, Ingrid; Key, Nigel S.; Schiff, David (Oxford University Press, 2023-08-01)
    Patients with diffuse glioma are at high risk of developing venous thromboembolism (VTE) over the course of the disease, with up to 30% incidence in patients with glioblastoma (GBM) and a lower but nonnegligible risk in ...
  • Genetic insights into resting heart rate and its role in cardiovascular disease 
    van de Vegte, Yordi J.; Eppinga, Ruben N.; van der Ende, M. Yldau; Hagemeijer, Yanick P.; Mahendran, Yuvaraj; Salfati, Elias; Smith, Albert V.; Tan, Vanessa Y.; Arking, Dan E.; Ntalla, Ioanna; Appel, Emil V.; Schurmann, Claudia; Brody, Jennifer A.; Rueedi, Rico; Polasek, Ozren; Sveinbjornsson, Gardar; Lecoeur, Cecile; Ladenvall, Claes; Zhao, Jing Hua; Isaacs, Aaron; Wang, Lihua; Luan, Jian’an; Hwang, Shih Jen; Mononen, Nina; Auro, Kirsi; Jackson, Anne U.; Bielak, Lawrence F.; Zeng, Linyao; Shah, Nabi; Nethander, Maria; Campbell, Archie; Rankinen, Tuomo; Pechlivanis, Sonali; Qi, Lu; Zhao, Wei; Rizzi, Federica; Tanaka, Toshiko; Robino, Antonietta; Cocca, Massimiliano; Lange, Leslie; Müller-Nurasyid, Martina; Roselli, Carolina; Zhang, Weihua; Kleber, Marcus E.; Guo, Xiuqing; Lin, Henry J.; Pavani, Francesca; Galesloot, Tessel E.; Said, M. Abdullah; van der Harst, Pim; The DCCT/EDIC Research Group (Nature Publishing Group, 2023-12)
    Resting heart rate is associated with cardiovascular diseases and mortality in observational and Mendelian randomization studies. The aims of this study are to extend the number of resting heart rate associated genetic ...
  • Comment on: Cardiotoxicity in children with cancer treated with anthracyclines: A position statement on dexrazoxane 
    Mavinkurve-Groothuis, Annelies M.C.; de Baat, Esmee C.; Feijen, Elizabeth A.M.; Kremer, Leontien C.M.; Armenian, Saro H.; Mulder, Renee L.; van Dalen, Elvira C. (Wiley-Liss Inc., 2023-10)
  • Clinical outcome in chronic inflammatory demyelinating polyneuropathy: Facing variability 
    Goedee, Stephan; Rajabally, Yusuf A. (John Wiley & Sons Inc., 2023-10)
  • Neuromuscular ultrasound protocols: First steps, future challenges 
    Goedee, H. Stephan; Lieba-Samal, Doris (John Wiley & Sons Inc., 2023-10)
  • A machine learning approach reveals features related to clinicians' diagnosis of clinically relevant knee osteoarthritis 
    Wang, Qiuke; Runhaar, Jos; Kloppenburg, Margreet; Boers, Maarten; Bijlsma, Johannes W.J.; Bacardit, Jaume; Bierma-Zeinstra, Sita M.A. (Oxford University Press, 2023-08)
    Objectives: To identify highly ranked features related to clinicians' diagnosis of clinically relevant knee OA. Methods: General practitioners (GPs) and secondary care physicians (SPs) were recruited to evaluate 5-10 years ...
  • Letter to the Editor. Bone interface interaction in interbody fusion 
    Duits, Anneli A.A.; de Reuver, Steven; Kruyt, Moyo C. (American Association of Neurological Surgeons, 2023-08)
  • Nationwide implementation of personalized outcomes forecasts to support physical therapists in treating patients with intermittent claudication: Protocol for an interrupted time series study 
    Sinnige, Anneroos; Kittelson, Andrew; Rutgers, Katrien M.; Marcellis, Laura H.M.; van der Wees, Philip J.; Teijink, Joep A.W.; Hoogeboom, Thomas J. (Public Library of Science, 2023-07)
    Introduction Shared decision-making is the cornerstone of patient-centered care. However, evidence suggests that the application of shared decision-making in physical therapy practice is limited. To elicit shared decision-making ...
  • Will we ever agree on using low-dose glucocorticoids in treating rheumatoid arthritis? 
    Bijlsma, Johannes W.J. (Oxford University Press, 2023-08-01)
  • Balloon pulmonary angioplasty for chronic thromboembolic pulmonary hypertension: a clinical consensus statement of the ESC working group on pulmonary circulation and right ventricular function 
    Lang, Irene M.; Andreassen, Arne K.; Andersen, Asger; Bouvaist, Helene; Coghlan, Gerry; Escribano-Subias, Pilar; Jansa, Pavel; Kopec, Grzegorz; Kurzyna, Marcin; Matsubara, Hiromi; Meyer, Bernhard Christian; Palazzini, Massimiliano; Post, Marco C.; Pruszczyk, Piotr; Räber, Lorenz; Roik, Marek; Rosenkranz, Stephan; Wiedenroth, Christoph B.; Redlin-Werle, Carlo; Brenot, Philippe (Oxford University Press, 2023-08-01)
    The current treatment algorithm for chronic thromboembolic pulmonary hypertension (CTEPH) as depicted in the 2022 European Society of Cardiology (ESC)/European Respiratory Society (ERS) guidelines on the diagnosis and ...
  • Organ involvement and assessment in sarcoidosis 
    Janssen, Marlou T.H.F.; Landewé, Robert B.M.; Post, Marco C.; Erckens, Roel J.; Mostard, Rémy L.M. (Lippincott Williams & Wilkins, 2023-09)
    Purpose of reviewIn recent years new recommendations have been published about organ assessment in the diagnosis of sarcoidosis.Recent findingsScreening for pulmonary, cardiac, ocular, neurologic and renal involvement and ...
  • CineECG analysis provides new insights into Familial ST-segment Depression Syndrome 
    Frosted, Rasmus; Paludan-Müller, Christian; Vad, Oliver Bundgaard; Olesen, Morten Salling; Bundgaard, Henning; van Dam, Peter; Christensen, Alex Hørby (Oxford University Press, 2023-05)
    Aims Familial ST-segment Depression Syndrome (Fam-STD) is a novel inherited cardiac disease associated with arrhythmias and sudden cardiac death. This study aimed at investigating the cardiac activation pathway in patients ...
  • Decreased role of neuropeptides in the microvascular function in migraine patients with polycystic ovary syndrome 
    Al-Hassany, Linda; Linstra, Katie M.; Meun, Cindy; van den Berg, Jeffrey; Boersma, Eric; Danser, A. H.Jan; Fauser, Bart C.J.M.; Laven, Joop S.E.; Wermer, Marieke J.H.; Terwindt, Gisela M.; Maassen Van Den Brink, Antoinette; the CREW consortium (Elsevier, 2023-11)
    Background and aims: To understand pathophysiological mechanisms underlying migraine as a cardiovascular risk factor, we studied neuropeptide action and endothelial function as measures of peripheral microvascular function ...