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排序方式: 共有6316条查询结果,搜索用时 15 毫秒
1.
Muhammad Ruslin Jan Wolff Harmas Yazid Yusuf Muhammad Zaifullah Arifin Paolo Boffano Tymour Forouzanfar 《中华创伤杂志(英文版)》2019,22(1):47-50
Purpose
Mild traumatic brain injury (TBI) is common but accurate diagnosis and its clinical consequences have been a problem. Maxillofacial trauma does have an association with TBI. Neuron-specific enolase (NSE) has been developed to evaluate neuronal damage. The objective of this study was to investigate the accuracy of NSE serum levels to detect mild brain injury of patients with sustained maxillofacial fractures during motor vehicle accidents.Methods
Blood samples were drawn from 40 healthy people (control group) and 48 trauma patients who had sustained isolated maxillofacial fractures and mild brain injury in motor vehicle accidents. Brain injuries were graded by Glasgow Coma Scale. In the trauma group, correlations between the NSE serum value and different facial fracture sites were also assessed.Results
The NSE serum level (mean ± SD, ng/ml) in the 48 patients with maxillofacial fractures and mild TBI was 13.12 ± 9.68, significantly higher than that measured in the healthy control group (7.72 ± 1.82, p < 0.001). The mean NSE serum level (ng/ml) in the lower part of the facial skeleton (15.44 with SD 15.34) was higher than that in the upper facial part (12.42 with SD 7.68); and the mean NSE level (ng/ml) in the middle-and lower part (11.97 with SD 5.63) was higher than in the middle part (7.88 with SD 2.64).Conclusion
An increase in NSE serum levels can be observed in patients sustained maxillofacial fractures and mild brain injury. 相似文献2.
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Nadege Wesner Louis Drevon Alexis Guedon Jean Baptiste Fraison Salim Trad Jean Emmanuel Kahn Achille Aouba Jerome Gillard Matthieu Ponsoye Thomas Hanslik Clement Gourguechon Eric Liozon Kamel Laribi Julien Rossignol Olivier Hermine Lionel Ads Fabrice Carrat Pierre Fenaux Arsene Mekinian Olivier Fain 《European journal of haematology》2019,102(1):63-69
5.
Moreno Menghini Jasmina Cehajic-Kapetanovic Imran H. Yusuf Robert E. MacLaren 《Ophthalmic genetics》2019,40(6):545-548
ABSTRACTBackground: Gene editing has shown huge potential in correcting aberrant splicing and Cas13 has been identified as being particularly suitable for targeting RNA. It has therefore become increasingly important to highlight new splice site mutations that may be correctable, particularly in genes that are too large to be encoded by AAV vectors. About 20% of Usher Type 1 cases are caused by mutations in CDH23.Purpose: To report a novel splice site mutation of CDH23 associated with Usher Type 1D.Materials and Methods: Case report.Results: A 35-year-old Caucasian female who is congenitally deaf with vestibular dysfunction presented with visual acuity of 6/12 in both eyes. Fundus examination revealed findings typical of retinitis pigmentosa with foveal preservation of photoreceptor layer. Next generation sequencing analysis revealed a novel homozygous variant, c.9319 + 1G>T in CDH23 consistent with the diagnosis of Usher Syndrome Type 1D. The c.9319 + 1G>T variant is predicted to affect splicing at the exon 65/intron 65 boundary, which highly likely leads to complete skipping of exon 65.Conclusions: We describe a case of a typical Usher Syndrome Type 1D caused by a novel splice site variant in CDH23. Currently there are no treatments for CDH23 related retinal degeneration, partly because the cDNA size of 10kb is too large for AAV vector gene augmentation therapy. Alternative strategies include CRISPR-Cas9 adenine base editors and RNA editing with CRISPR-Cas13. Single-nucleotide editing represents a promising approach for targeting this variant in CDH23 to restore the wildtype splice donor site at this position. 相似文献
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Bergman David Modh Ankit Schultz Lonni Snyder James Mikkelsen Tom Shah Mira Ryu Samuel Siddiqui M. Salim Walbert Tobias 《Journal of neuro-oncology》2020,148(2):353-361
Journal of Neuro-Oncology - Outcomes for patients with recurrent high-grade glioma (HGG) progressing on bevacizumab (BEV) are dismal. Fractionated stereotactic radiosurgery (FSRS) has been shown to... 相似文献
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Salihu Hamisu M. Dongarwar Deepa King Lindsey M. Yusuf Korede K. Ibrahimi Sahra Salinas-Miranda Abraham A. 《Archives of gynecology and obstetrics》2020,301(2):415-426
Archives of Gynecology and Obstetrics - Studies have reported a surge in the prevalence of obesity among various demographic groups including pregnant women in the U.S. Given the association... 相似文献