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Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Fokkema, Ivo F.A.C.; van der Velde, Kasper J.; Slofstra, Mariska K.; Ruivenkamp, Claudia A.L.; Vogel, Maartje J.; Pfundt, Rolph; Blok, Marinus J.; Lekanne Deprez, Ronald H.; Waisfisz, Quinten; Abbott, Kristin M.; Sinke, Richard J.; Rahman, Rubayte; Nijman, Isaäc J.; de Koning, Bart; Thijs, Gert; Wieskamp, Nienke; Moritz, Ruben J.G.; Charbon, Bart; Saris, Jasper J.; den Dunnen, Johan T.; Laros, Jeroen F.J.; Swertz, Morris A.; van Gijn, Marielle E. (John Wiley & Sons Inc., 2019-12-01)

Each year diagnostic laboratories in the Netherlands profile thousands of individuals for heritable disease using next-generation sequencing (NGS). This requires pathogenicity classification of millions of DNA variants on ...
The mediating effect of immune markers on the association between ambient air pollution and adult-onset asthma

Mostafavi, Nahid; Jeong, Ayoung; Vlaanderen, Jelle; Imboden, Medea; Vineis, Paolo; Jarvis, Debbie; Kogevinas, Manolis; Probst-Hensch, Nicole; Vermeulen, Roel (Nature Publishing Group, 2019-12-01)

We aim to investigate to what extent a set of immune markers mediate the association between air pollution and adult-onset asthma. We considered long-term exposure to multiple air pollution markers and a panel of 13 immune ...
The role of fibrinogen and fibrinogen concentrate in cardiac surgery: an international consensus statement from the Haemostasis and Transfusion Scientific Subcommittee of the European Association of Cardiothoracic Anaesthesiology

Erdoes, G.; Koster, A.; Meesters, M. I.; Ortmann, E.; Bolliger, D.; Baryshnikova, E.; Ahmed, A.; Lance, M. D.; Ravn, H. B.; Ranucci, M.; von Heymann, C.; Agarwal, S. (Wiley-Blackwell, 2019-12-01)

To date, data regarding the efficacy and safety of administering fibrinogen concentrate in cardiac surgery are limited. Studies are limited by their low sample size and large heterogeneity with regard to the patient ...
Membrane-bound Gaussia luciferase as a tool to track shedding of membrane proteins from the surface of extracellular vesicles

Zaborowski, Mikołaj Piotr; Cheah, Pike See; Zhang, Xuan; Bushko, Isabella; Lee, Kyungheon; Sammarco, Alessandro; Zappulli, Valentina; Maas, Sybren Lein Nikola; Allen, Ryan M.; Rumde, Purva; György, Bence; Aufiero, Massimo; Schweiger, Markus W.; Lai, Charles Pin Kuang; Weissleder, Ralph; Lee, Hakho; Vickers, Kasey C.; Tannous, Bakhos A.; Breakefield, Xandra O. (Nature Publishing Group, 2019-11-22)

Extracellular vesicles (EVs) released by cells play a role in intercellular communication. Reporter and targeting proteins can be modified and exposed on the surface of EVs to investigate their half-life and biodistribution. ...
Nutritional psychiatry: Towards improving mental health by what you eat

Adan, Roger A.H.; van der Beek, Eline M.; Buitelaar, Jan K.; Cryan, John F.; Hebebrand, Johannes; Higgs, Suzanne; Schellekens, Harriet; Dickson, Suzanne L. (Elsevier, 2019-12-01)

Does it matter what we eat for our mental health? Accumulating data suggests that this may indeed be the case and that diet and nutrition are not only critical for human physiology and body composition, but also have ...
The small molecule inhibitor anle145c thermodynamically traps human islet amyloid peptide in the form of non-cytotoxic oligomers

Saravanan, Manikam S.; Ryazanov, Sergey; Leonov, Andrei; Nicolai, Janine; Praest, Patrique; Giese, Armin; Winter, Roland; Khemtemourian, Lucie; Griesinger, Christian; Killian, J. Antoinette (Nature Publishing Group, 2019-12-01)

Type 2 diabetes (T2DM) is associated with aggregation of the human islet amyloid polypeptide (hIAPP) into cytotoxic amyloid species. Here we tested the effect of a diphenylpyrazole (DPP)-derived small molecule inhibitor, ...
Peak width of skeletonized mean diffusivity and its association with age-related cognitive alterations and vascular risk factors

Lam, Bonnie Yin Ka; Leung, Kam Tat; Yiu, Brian; Zhao, Lei; Biesbroek, J. Matthijs; Au, Lisa; Tang, Yumi; Wang, Kai; Fan, Yuhua; Fu, Jian Hui; Xu, Qun; Song, Haiqing; Tian, Xiaolin; Chu, Winnie Chiu Wing; Abrigo, Jill; Shi, Lin; Ko, Ho; Lau, Alexander; Duering, Marco; Wong, Adrian; Mok, Vincent Chung Tong (John Wiley & Sons Inc., 2019-12-01)

Introduction: Only two studies investigated the associations between peak width of skeletonized mean diffusivity (PSMD) and age-related cognitive alterations, whereas none of the studies investigated the association with ...
Exploring survivor perceptions of pre-eclampsia and eclampsia in Nigeria through the health belief model

Sripad, Pooja; Kirk, Karen; Adoyi, Gloria; Dempsey, Amy; Ishaku, Salisu; Warren, Charlotte E. (BioMed Central, 2019-11-21)

BACKGROUND: In Nigeria, hypertensive disorders have become the leading cause of facility-based maternal mortality. Many factors influence pregnant women's health-seeking behaviors and perceptions around the importance of ...
Sporting programs aimed at inactive population groups in the Netherlands: Factors influencing their long-term sustainability in the organized sports setting

Ooms, Linda; Van Kruijsbergen, Mette; Collard, Dorine; Leemrijse, Chantal; Veenhof, Cindy (BioMed Central, 2019-11-19)

Background: The organized sports sector has received increased interest as a setting to stimulate physical activity among inactive target groups. To include many inactive people and to obtain population health benefits, ...
Clinic and patient variation in intermediate clinical outcomes for type 2 diabetes: A multilevel analysis

Lim, Yvonne Mei Fong; Ang, Swee Hung; Nasir, Nazrila Hairizan; Ismail, Fatanah; Ismail, Siti Aminah; Sivasampu, Sheamini (BioMed Central, 2019-11-15)

Background: Variation at different levels of diabetes care has not yet been quantified for low- A nd middle-income countries. Understanding this variation and its magnitude is important to guide policy makers in designing ...
Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

EUCLIDS Consortium (Nature Publishing Group, 2019-12-01)

Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such ...
Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees

van den Heuvel, Lieke M.; Huisinga, Mette J.; Hoedemaekers, Yvonne M.; Baas, Annette F.; Plantinga, Mirjam; Henneman, Lidewij; van Tintelen, J. Peter; Smets, Ellen M.A.; Christiaans, Imke (Springer Nature, 2019-09-01)

Inherited cardiac conditions (ICCs) can lead to sudden cardiac death at young age, even without previous symptoms, yet often remain undetected. To prevent sudden cardiac death, cardiac monitoring and/or predictive DNA ...
Characterization of Sickling During Controlled Automated Deoxygenation with Oxygen Gradient Ektacytometry

Rab, Minke A E; van Oirschot, Brigitte A; Bos, Jennifer; Kanne, Celeste K; Sheehan, Vivien A; van Beers, Eduard J; van Wijk, Richard (MYJoVE Corporation, 2019-11-05)

In sickle cell disease (SCD), a single point mutation in the gene coding for beta-globin causes the production of abnormal hemoglobin S (HbS). When deoxygenated, HbS can polymerize, forming rigid rods of hemoglobin, resulting ...
Physical performance has a strong association with poor surgical outcome in older patients with colorectal cancer

Souwer, Esteban TD; Moos, Shira I.; van Rooden, Cornelis J.; Bijlsma, Astrid Y.; Bastiaannet, Esther; Steup, Willem H.; Dekker, Jan Willem T.; Fiocco, Marta; van den Bos, Frederiek; Portielje, Johanna EA (W.B. Saunders Ltd, 2020-03-01)

Background: Low lumbar skeletal muscle mass and density have been associated with adverse outcomes in different populations with colorectal cancer (CRC). We aimed to determine whether skeletal muscle mass, density, and ...
Improving the Translational Medicine Process: Moving Patients From "End-Users" to "Engaged Collaborators"

Battaglia, Manuela; Furlong, Pat; Wulffraat, Nico Martinus; Enders, Felicitas Bellutti (Frontiers Media S. A., 2019-05-21)

Translational medicine works through the definition of unmet medical needs, their understanding and final resolution. In this complex and multi-disciplinary process patients have always been regarded as "end-users" or no ...
Antineoplastic treatment with crizotinib during pregnancy: a case report

Jensen, Kristian H; Persson, Gitte; Storgaard, Lone; Nielsen, Birgitte B; Pedersen, Berit W; Maroun, Lisa L; Huitema, Alwin; Pøhl, Mette (Informa Healthcare, 2019-01)

The rare concurrence of pregnancy and lung cancer presents a significant clinical challenge. In younger patients, the presence of molecular driver mutations is more frequently observed [1], but treatment experience with ...
Changes in End-of-Life Practices in European Intensive Care Units from 1999 to 2016

Sprung, Charles L.; Ricou, Bara; Hartog, Christiane S.; Maia, Paulo; Mentzelopoulos, Spyros D.; Weiss, Manfred; Levin, Phillip D.; Galarza, Laura; De La Guardia, Veronica; Schefold, Joerg C.; Baras, Mario; Joynt, Gavin M.; Bülow, Hans Henrik; Nakos, Georgios; Cerny, Vladimir; Marsch, Stephan; Girbes, Armand R.; Ingels, Catherine; Miskolci, Orsolya; Ledoux, Didier; Mullick, Sudakshina; Bocci, Maria G.; Gjedsted, Jakob; Estébanez, Belén; Nates, Joseph L.; Lesieur, Olivier; Sreedharan, Roshni; Giannini, Alberto M.; Fuciños, Lucía Cachafeiro; Danbury, Christopher M.; Michalsen, Andrej; Soliman, Ivo W.; Estella, Angel; Avidan, Alexander (American Medical Association, 2019-11-05)

Importance: End-of-life decisions occur daily in intensive care units (ICUs) around the world, and these practices could change over time. Objective: To determine the changes in end-of-life practices in European ICUs after ...
Psychopathology after admission to the intensive care unit

Kok, L.; Soliman, I. W.; van Dijk, D. (Netherlands Society of Intensive Care, 2019-09-01)

A substantial number of patients who have been admitted to an intensive care unit (ICU) face both physical, cognitive and mental impairment related to their critical illness up to years after discharge. Up to half of the ...
Twelve years of pneumococcal conjugate vaccination in the Netherlands: Impact on incidence and clinical outcomes of invasive pneumococcal disease

Vestjens, Stefan M. T.; Sanders, Elisabeth A. M.; Vlaminckx, Bart J.; de Melker, Hester E.; van der Ende, Arie; Knol, Mirjam J. (Elsevier, 2019-10-08)

Introduction: In 2006, the Netherlands introduced the 7-valent pneumococcal conjugate vaccine (PCV7) in their national immunisation programme. In 2011, PCV7 was replaced by the 10-valent vaccine (PCV10). We report on the ...
Lessons learnt from anonymized review of cases of peripartum hysterectomy by international experts: A qualitative pilot study

on behalf of the Nordic Obstetric Surveillance System and the International Network of Obstetric Survey Systems (Wiley-Blackwell, 2019-08-01)

Severe obstetric complications are not extensively studied and individual cases are used too little and inappropriately in quality improvement activities, due to limited numbers and prioritization of quantitative research. ...

Now showing items 21701-21720 of 40729