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Now showing items 19841-19860 of 40729

Chronic activation of anti-oxidant pathways and iron accumulation in epileptogenic malformations

Zimmer, T. S.; Ciriminna, G.; Arena, A.; Anink, J. J.; Korotkov, A.; Jansen, F. E.; van Hecke, W.; Spliet, W. G.; van Rijen, P. C.; Baayen, J. C.; Idema, S.; Rensing, N. R.; Wong, M.; Mills, J. D.; van Vliet, E. A.; Aronica, E. (Wiley-Blackwell, 2020-10-01)

Aims: Oxidative stress is evident in resected epileptogenic brain tissue of patients with developmental brain malformations related to mammalian target of rapamycin activation: tuberous sclerosis complex (TSC) and focal ...
Nasal potential difference in suspected cystic fibrosis patients with 5T polymorphism

Aalbers, Bente L.; Yaakov, Yasmin; Derichs, Nico; Simmonds, Nicholas J.; De Wachter, Elke; Melotti, P.; De Boeck, Kris; Leal, Teresinha; Tümmler, Burkhart; Wilschanski, Michael; Bronsveld, Inez (Elsevier, 2020-07)

Background: 5T polymorphism is a CFTR mutation with unclear clinical consequences: the phenotype varies from healthy individuals to Cystic Fibrosis (CF). The aim of this study was to evaluate if nasal potential difference ...
Molecular Signature of CAID Syndrome: Noncanonical Roles of SGO1 in Regulation of TPF-beta Signaling and Epigenomics: Noncanonical Roles of SGO1 in Regulation of TGF-β Signaling and Epigenomics

CoHEART Consortium; Bakkers, Jeroen (Elsevier, 2019-01-01)

BACKGROUND & AIMS: A generalized human pacemaking syndrome, chronic atrial and intestinal dysrhythmia (CAID) (OMIM 616201), is caused by a homozygous SGO1 mutation (K23E), leading to chronic intestinal pseudo-obstruction ...
A mutation in the kringle domain of human factor XII that causes autoinflammation, disturbs zymogen quiescence, and accelerates activation

Hofman, Zonne L M; Clark, Chantal C; Sanrattana, Wariya; Nosairi, Aziz; Parr, Naomi M J; Živkovic, Minka; Krause, Karoline; Mahnke, Niklas A; Scheffel, Jörg; Hack, C Erik; Maurer, Marcus; de Maat, Steven; Maas, Coen (American Society for Biochemistry and Molecular Biology Inc., 2020-01-10)

Coagulation factor XII (FXII) drives production of the inflammatory peptide bradykinin. Pathological mutations in the F12 gene, which encodes FXII, provoke acute tissue swelling in hereditary angioedema (HAE). Interestingly, ...
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation

Scheffel, Jörg; Mahnke, Niklas A; Hofman, Zonne L M; Maat, Steven de; Wu, Jim; Bonnekoh, Hanna; Pengelly, Reuben J; Ennis, Sarah; Holloway, John W; Kirchner, Marieluise; Mertins, Philipp; Church, Martin K; Maurer, Marcus; Maas, Coen; Krause, Karoline (Nature Publishing Group, 2020-01-10)

Hereditary autoinflammatory diseases are caused by gene mutations of the innate immune pathway, e.g. nucleotide receptor protein 3 (NLRP3). Here, we report a four-generation family with cold-induced urticarial rash, ...
AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes

Rab, Minke A E; van Oirschot, Brigitte A; Kosinski, Penelope A; Hixon, Jeffrey; Johnson, Kendall; Chubukov, Victor; Dang, Lenny; Pasterkamp, Gerard; van Straaten, Stephanie; van Solinge, Wouter W; van Beers, Eduard J; Kung, Charles; van Wijk, Richard (Ferrata Storti Foundation, 2021-01)

Pyruvate kinase (PK) deficiency is a rare hereditary disorder affecting red cell (RBC) glycolysis, causing changes in metabolism including a deficiency in ATP. This affects red cell homeostasis, promoting premature removal ...
PCSK6 Is a Key Protease in the Control of Smooth Muscle Cell Function in Vascular Remodeling

Rykaczewska, Urszula; Suur, Bianca E; Röhl, Samuel; Razuvaev, Anton; Lengquist, Mariette; Sabater-Lleal, Maria; van der Laan, Sander W; Miller, Clint L; Wirka, Robert C; Kronqvist, Malin; Gonzalez Diez, Maria; Vesterlund, Mattias; Gillgren, Peter; Odeberg, Jacob; Lindeman, Jan Hn; Veglia, Fabrizio; Humphries, Steve E; de Faire, Ulf; Baldassarre, Damiano; Tremoli, Elena; Lehtiö, Janne; Hansson, Göran K; Paulsson-Berne, Gabrielle; Pasterkamp, Gerard; Quertermous, Thomas; Hamsten, Anders; Eriksson, Per; Hedin, Ulf; Matic, Ljubica (Lippincott Williams & Wilkins, 2020-02-28)

RATIONALE: PCSKs (Proprotein convertase subtilisins/kexins) are a protease family with unknown functions in vasculature. Previously, we demonstrated PCSK6 upregulation in human atherosclerotic plaques associated with smooth ...
Comparison of outcome between intrauterine balloon tamponade and uterine artery embolization in the management of persistent postpartum hemorrhage: A propensity score-matched cohort study

the TeMpOH-1 study group (Wiley-Blackwell, 2019-11-01)

Introduction: The aim of this study was to compare the outcomes of women who were initially managed by intrauterine balloon tamponade or uterine artery embolization because of persistent postpartum hemorrhage demanding an ...
Association of Timing of Plasma Transfusion With Adverse Maternal Outcomes in Women With Persistent Postpartum Hemorrhage

TeMpOH-1 Research Group (American Medical Association, 2019-11-01)

Importance: Early plasma transfusion for women with severe postpartum hemorrhage (PPH) is recommended to prevent coagulopathy. However, there is no comparative, quantitative evidence on the association of early plasma ...
MR-MOTUS: model-based non-rigid motion estimation for MR-guided radiotherapy using a reference image and minimal k-space data

Huttinga, Niek R F; van den Berg, Cornelis A T; Luijten, Peter R; Sbrizzi, Alessandro (IOP Publishing Ltd., 2020-01-10)

Time-resolved motion estimation from MRI data has received an increasing amount of interest due to the advent of the MR-Linac. The combination of an MRI scanner and a linear accelerator enables radiation plan adaptation ...
Rac-GTPase promotes fibrotic TGF-β1 signaling and chronic kidney disease via EGFR, p53, and Hippo/YAP/TAZ pathways

Patel, Samik; Tang, Jiaqi; Overstreet, Jessica M; Anorga, Sandybell; Lian, Fei; Arnouk, Alex; Goldschmeding, Roel; Higgins, Paul J; Samarakoon, Rohan (John Wiley & Sons Inc., 2019-09)

Rac-GTPases are major regulators of cytoskeletal remodeling and their deregulation contributes to numerous pathologies. Whether or how Rac promotes tubulointerstitial fibrosis and chronic kidney disease (CKD) is currently ...
From organ to cell: Multi-level telomere length assessment in patients with idiopathic pulmonary fibrosis

van Batenburg, Aernoud A; Kazemier, Karin M; van Oosterhout, Matthijs F M; van der Vis, Joanne J; van Es, Hendrik W; Grutters, Jan C; Goldschmeding, Roel; van Moorsel, Coline H M (Public Library of Science, 2020-01-07)

RATIONALE: A subset of patients with idiopathic pulmonary fibrosis (IPF) contains short leukocyte telomeres or telomere related mutations. We previously showed that alveolar type 2 cells have short telomeres in fibrotic ...
Conflicting Effects of Fetal Growth Restriction on Blood Pressure Between Human and Rat Offspring: A Meta-Analysis

Kooiman, Judith; Terstappen, Fieke; van Wagensveld, Lilian; Franx, Arie; Wever, Kimberley E; Roseboom, Tessa J; Joles, Jaap A; Gremmels, Hendrik; Lely, A Titia (Lippincott Williams & Wilkins, 2020-03-01)

Low birth weight is associated with hypertension. Low birth weight can result from fetal growth restriction (FGR) or prematurity. FGR is postulated to impact blood pressure (BP) by developmental programming. This systematic ...
Protocolized Versus Nonprotocolized Weaning to Reduce the Duration of Invasive Mechanical Weaning in Neonates: A Systematic Review of All Types of Studies

Bol, Bas; van Zanten, Henriette A; Wielenga, Joke M; van den Hoogen, A; Mansvelt, Petri W.; Blackwood, Bronagh; Helder, Onno (Lippincott Williams and Wilkins Ltd., 2020-04-01)

Mechanical ventilation is one of the most commonly used treatments in neonatology. Prolonged mechanical ventilation is associated with deleterious outcomes. To reduce the ventilation duration, weaning protocols have been ...
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Smeland, Marie F; McClenaghan, Conor; Roessler, Helen I; Savelberg, Sanne; Hansen, Geir Åsmund Myge; Hjellnes, Helene; Arntzen, Kjell Arne; Müller, Kai Ivar; Dybesland, Andreas Rosenberger; Harter, Theresa; Sala-Rabanal, Monica; Emfinger, Chris H; Huang, Yan; Singareddy, Soma S; Gunn, Jamie; Wozniak, David F; Kovacs, Attila; Massink, Maarten; Tessadori, Federico; Kamel, Sarah M; Bakkers, Jeroen; Remedi, Maria S; Van Ghelue, Marijke; Nichols, Colin G; van Haaften, Gijs (Nature Publishing Group, 2019-10-01)

Mutations in genes encoding KATP channel subunits have been reported for pancreatic disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype of mild intellectual ...
An updated European Organisation for Research and Treatment of Cancer (EORTC) protocol for pathological evaluation of sentinel lymph nodes for melanoma

Cook, Martin G; Massi, Daniela; Szumera-Ciećkiewicz, Anna; Van den Oord, Joost; Blokx, Willeke; van Kempen, Léon C; Balamurugan, Thiagarajah; Bosisio, Francesca; Koljenović, Senada; Portelli, Francesca; van Akkooi, Alexander C J; EORTC Melanoma Group (Elsevier Limited, 2019-06)

The sentinel lymph node (SLN) biopsy is a highly accurate staging procedure and the most important prognostic factor in melanoma patients. The European Organisation for Research and Treatment of Cancer (EORTC) Melanoma ...
Being fully digital: perspective of a Dutch academic pathology laboratory

Stathonikos, Nikolas; Nguyen, Tri Q; Spoto, Clothaire P; Verdaasdonk, Marina A M; van Diest, Paul J (Wiley-Blackwell, 2019-11)

The introduction of fast and robust whole slide scanners has facilitated the implementation of 'digital pathology' with various uses, the final challenge being full digital diagnostics. In this article, we describe the ...
Connective tissue growth factor is correlated with peritoneal lymphangiogenesis

Kinashi, Hiroshi; Toda, Naohiro; Sun, Ting; Nguyen, Tri Q; Suzuki, Yasuhiro; Katsuno, Takayuki; Yokoi, Hideki; Aten, Jan; Mizuno, Masashi; Maruyama, Shoichi; Yanagita, Motoko; Goldschmeding, Roel; Ito, Yasuhiko (Nature Publishing Group, 2019-12-01)

Lymphatic absorption in the peritoneal cavity may contribute to ultrafiltration failure in peritoneal dialysis (PD). Lymphatic vessels develop during PD-related peritoneal fibrosis. Connective tissue growth factor (CTGF, ...
Response of FcεRI-bearing leucocytes to omalizumab in chronic spontaneous urticaria

Alizadeh Aghdam, M; Knol, E F; van den Elzen, M; den Hartog Jager, C; van Os-Medendorp, H; Knulst, A C; Otten, H G; Röckmann, H (Wiley-Blackwell, 2020-03)

Background: The pathogenesis of chronic spontaneous urticaria (CSU) and the mechanism of action of omalizumab in CSU remain unclear. Objective: In this study, we assessed the responsiveness and FcεRI expression of various ...
Single-Step Treatment with Limited Endoscopic Resection and Cryoballoon Ablation Is Feasible and Safe in an Esophageal Porcine Model

Overwater, A.; Brosens, L. A.A.; Offerhaus, G. J.A.; Weusten, B. L.A.M. (Springer New York, 2020-11)

Background: Treatment of Barrett’s neoplasia consists of two steps: endoscopic resection of visible lesions with subsequent ablation of remaining Barrett’s epithelium. However, extensive resection might hamper subsequent ...

Now showing items 19841-19860 of 40729