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101.
High resolution SNP array profiling identifies variability in retinoblastoma genome stability 下载免费PDF全文
Berber M. Mol Maarten P. G. Massink Annemarie H. van der Hout Charlotte J. Dommering Johannes M. A. Zaman Machteld I. Bosscha Wijnanda A. Kors Hanne E. Meijers‐Heijboer Gertjan J. L. Kaspers Hein te Riele Annette C. Moll Jacqueline Cloos Josephine C. Dorsman 《Genes, chromosomes & cancer》2014,53(1):1-14
Both hereditary and nonhereditary retinoblastoma (Rb) are commonly initiated by loss of both copies of the retinoblastoma tumor suppressor gene (RB1), while additional genomic changes are required for tumor initiation and progression. Our aim was to determine whether there is genomic heterogeneity between different clinical Rb subtypes. Therefore, 21 Rb tumors from 11 hereditary patients and 10 nonhereditary Rb patients were analyzed using high‐resolution single nucleotide polymorphism (SNP) arrays and gene losses and gains were validated with Multiplex Ligation‐dependent Probe Amplification. In these tumors only a few focal aberrations were detected. The most frequent was a focal gain on chromosome 2p24.3, the minimal region of gain encompassing the oncogene MYCN. The genes BAZ1A, OTX2, FUT8, and AKT1 were detected in four focal regions on chromosome 14 in one nonhereditary Rb. There was a large difference in number of copy number aberrations between tumors. A subset of nonhereditary Rbs turned out to be the most genomic unstable, while especially very young patients with hereditary Rb display stable genomes. Established Rb copy number aberrations, including gain of chromosome arm 1q and loss of chromosome arm 16q, turned out to be preferentially associated with the nonhereditary Rbs with later age of diagnosis. In contrast, copy number neutral loss of heterozygosity was detected mainly on chromosome 13, where RB1 resides, irrespective of hereditary status or age. Focal amplifications and deletions and copy number neutral loss of heterozygosity besides chromosome 13 appear to be rare events in retinoblastoma. © 2013 Wiley Periodicals, Inc. 相似文献
102.
Healthcare professionals and managers in hospitals are frequently suggested to learn from industry and business to improve quality and efficiency. However, evidence that the implementation of industrial techniques and business methods has a meaningful effect on patient outcomes is often lacking. An explanation for this phenomenon is thought to be the complexity of the hospital organisation and the diversity of patients. In this article, we use the practice approach to discuss the application of industrial techniques and business methods in healthcare. We employ a practice model that offers three perspectives to understand professional practices: Identity and intrinsic values, Interests of stakeholders, and Ideals and basic beliefs (Triple I). This model demonstrates that the nature of healthcare practices differs strongly from the nature of industrial and business practices. Healthcare has a moral nature that does not let itself be easily organised along technological or business categories. This may provide a fundamental explanation of why industrial techniques and business methods in general will be less successful in healthcare. At the same time, this model invites hospitals to develop innovative approaches that do justice to the identity and intrinsic values of healthcare. In this process, insights from industry and business cannot be copied but have to be used as sources of inspiration. 相似文献
103.
Abraham H. Hulst MD Maarten J. Visscher MD Marc B. Godfried PhD Bram Thiel Bastiaan M. Gerritse PhD Thierry V. Scohy PhD R. Arthur Bouwman PhD Mark G. A. Willemsen MD Markus W. Hollmann PhD Benedikt Preckel PhD J. Hans DeVries PhD Jeroen Hermanides PhD 《Diabetes, obesity & metabolism》2020,22(4):557-565
104.
Guntram Schernthaner MD Per-Henrik Groop MD Philip A. Kalra MD Claudio Ronco MD Maarten W. Taal MD 《Diabetes, obesity & metabolism》2020,22(7):1024-1034
Data from three completed cardiovascular outcome trials (CVOTs), EMPA-REG OUTCOME, CANVAS Program and DECLARE-TIMI 58, add to the evidence supporting the potential renoprotective effects of sodium-glucose linked transporter-2 (SGLT2) inhibitors in patients with type 2 diabetes. Despite recommendations in recent guidelines, it is difficult to support a view that definitive evidence for renoprotection exists from these SGLT2 inhibitor CVOT results. To date, the only dedicated trial to report definitive data on the renal impact of SGLT2 inhibition is CREDENCE. Notably, the total number of patient-relevant renal endpoint events (dialysis, transplant or renal death) observed in CREDENCE was significantly higher than the total for all three CVOTs collectively (183 events/4401 patients vs. 69 events/34 322 patients, respectively), which shows the increased statistical power of CREDENCE for these renal endpoints. Treatment with canagliflozin was associated with a 30% relative risk reduction (RRR) in the primary composite endpoint of end-stage kidney disease, doubling of serum creatinine, or death from renal or cardiovascular causes and a 34% RRR for the renal-specific elements of this primary endpoint (P <0.001). Canagliflozin has therefore become the first US-approved SGLT2 inhibitor to include an indication for RRR, in addition to type 2 diabetes glycaemic control and cardiovascular risk reduction. While confirmatory of the exploratory data from CVOTs, CREDENCE provides the first robust data on the effects of canagliflozin on patient-relevant renal endpoints. Extrapolation to a conclusion of a SGLT2 inhibitor class effect cannot be made until additional renal trials with other SGLT2 inhibitors are reported. 相似文献
105.
Simon Pape Tom J. G. Gevers Jan Maarten Vrolijk Bart van Hoek Gerd Bouma Carin M. J. van Nieuwkerk Richard Taubert Elmar Jaeckel Michael P. Manns Maria Papp Nora Sipeki Felix Stickel Cumali Efe Ersan Ozaslan Tugrul Purnak Frederik Nevens Dominik J. N. Kessener Alisan Kahraman Heiner Wedemeyer Johannes Hartl Christoph Schramm Ansgar W. Lohse Michael A. Heneghan Joost P. H. Drenth 《Liver international》2020,40(9):2164-2171
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108.
Maarten J Titulaer Lindsey McCracken Iñigo Gabilondo Thaís Armangué Carol Glaser Takahiro Iizuka Lawrence S Honig Susanne M Benseler Izumi Kawachi Eugenia Martinez-Hernandez Esther Aguilar Núria Gresa-Arribas Nicole Ryan-Florance Abiguei Torrents Albert Saiz Myrna R Rosenfeld Rita Balice-Gordon Francesc Graus Josep Dalmau 《Lancet neurology》2013,12(2):157-165
109.
Maarten J. Van Den Bossche Mojca Strazisar Sophia Cammaerts Anthony M. Liekens Geert Vandeweyer Veerle Depreeuw Maria Mattheijssens An‐Sofie Lenaerts Sonia De Zutter Peter De Rijk Bernard Sabbe Jurgen Del‐Favero 《American journal of medical genetics. Part B, Neuropsychiatric genetics》2013,162(3):273-282
Over the last years, genome‐wide studies consistently showed an increased burden of rare copy number variants (CNVs) in schizophrenia patients, supporting the “common disease, rare variant” hypothesis in at least a subset of patients. We hypothesize that in families with a high burden of disease, and thus probably a high genetic load influencing disease susceptibility, rare CNVs might be involved in the etiology of schizophrenia. We performed a genome‐wide CNV analysis in the index patients of eight families with multiple schizophrenia affected members, and consecutively performed a detailed family analysis for the most relevant CNVs. One index patient showed a DRD5 containing duplication. A second index patient presented with an NRXN1 containing deletion and two adjacent duplications containing MYT1L and SNTG2. Detailed analysis in the subsequent families showed segregation of the identified CNVs. With this study we show the importance of screening high burden families for rare CNVs, which will not only broaden our knowledge concerning the molecular genetic mechanisms involved in schizophrenia but also allow the use of the obtained genetic data to provide better clinical care to these families in general and to non‐symptomatic causal CNV carriers in particular. © 2013 Wiley Periodicals, Inc. 相似文献
110.
Julie Krans Dörte Janecko Maarten W. Bos 《Journal of behavior therapy and experimental psychiatry》2013,44(2):179-185
Background and ObjectivesIntrusive images after a traumatic event, a hallmark feature of post-traumatic stress disorder, are suggested to develop because the trauma memory is disorganized and not integrated into autobiographical memory. Unconscious Thought Theory predicts that information can be conceptually organized after a period of unconscious thought (UT), more so than after conscious thought (CT). We aimed to test the hypothesis that UT decreases intrusions and increases conceptual organization in memory.MethodsParticipants were shown a stressful film and were required to perform an UT task, a CT task, or a distraction task. Intrusions of the film, intrusion qualities, and sequence memory were measured afterwards.ResultsWe confirmed our hypothesis that UT (versus CT or mere distraction) leads to fewer intrusions, thereby replicating earlier research. Contrary to prediction, we found no difference between the conditions on sequence memory. In addition, conscious thought appeared to increase intrusion nowness and arousal.LimitationsThe analogue design and healthy participant sample prevent from generalizing results to other populations. Intrusion frequency and qualities were assessed immediately after the film thereby prohibiting us from drawing conclusions about any long-term effects.ConclusionsEngaging in unconscious thought after a stressful film can reduce intrusion frequency. This has potential implications for clinical interventions to prevent initial stress symptoms. The underlying mechanism remains unclear for now and provides an avenue for future research. 相似文献