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Lusine Nazaryan Eunice G Stefanou Claus Hansen Nadezda Kosyakova Mads Bak Freddie H Sharkey Theodora Mantziou Anastasios D Papanastasiou Voula Velissariou Thomas Liehr Maria Syrrou Niels Tommerup 《European journal of human genetics : EJHG》2014,22(3):338-343
Next-generation mate-pair sequencing (MPS) has revealed that many constitutional complex chromosomal rearrangements (CCRs) are associated with local shattering of chromosomal regions (chromothripsis). Although MPS promises to identify the molecular basis of the abnormal phenotypes associated with many CCRs, none of the reported mate-pair sequenced complex rearrangements have been simultaneously studied with state-of-the art molecular cytogenetic techniques. Here, we studied chromothripsis-associated CCR involving chromosomes 2, 5 and 7, associated with global developmental and psychomotor delay and severe speech disorder. We identified three truncated genes: CDH12, DGKB and FOXP2, confirming the role of FOXP2 in severe speech disorder, and suggestive roles of CDH12 and/or DGKB for the global developmental and psychomotor delay. Our study confirmes the power of MPS for detecting breakpoints and truncated genes at near nucleotide resolution in chromothripsis. However, only by combining MPS data with conventional G-banding and extensive fluorescence in situ hybridizations could we delineate the precise structure of the derivative chromosomes. 相似文献
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Ingri L.E. Postma Hanneke Weel Martin J. Heetveld Ineke van der Zande Taco S. Bijlsma Frank W. Bloemers J. Carel Goslings 《Injury》2013
Introduction
Difficulties have been reported in the patient distribution during Mass Casualty Incidents. In this study we analysed the regional patient distribution protocol (PDP) and the actual patient distribution after the 2009 Turkish Airlines crash near Amsterdam.Methods
Analysis of the patient distribution of 126 surviving casualties of the crash by collecting data on medical treatment capacity, number of patients received per hospital, triage classification, Injury Severity Score (ISS), secondary transfers, distance from the crash site, and the critical mortality rate.Results
The PDP holds ambiguous definitions of medical treatment capacity and was not followed. There were 14 receiving hospitals (distance from crash: 5.8–53.5 km); four hospitals received 133–213% of their treatment capacity, and 5 hospitals received 1 patient. Three hospitals within 20 km of the crash did not receive any casualties. Level I trauma centres received 89% of the ‘critical’ casualties and 92% of the casualties with ISS ≥ 16. Only 3 casualties were secondarily transferred, and no casualties died in, or on the way to hospital (critical mortality rate = 0%).Conclusion
Patient distribution worked out well after the crash as secondary transfers were low and critical mortality rate was zero. However, the regional PDP was not followed in this MCI and casualties were unevenly distributed among hospitals. The PDP is indistinctive, and should be updated in cooperation between Emergency Services, surrounding hospitals, and Schiphol International Airport as a high risk area. 相似文献38.
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Kathryn Siddle Subila Mwambingu Theodora Malinga Alison Fiander 《International urogynecology journal》2013,24(7):1215-1220