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排序方式: 共有213条查询结果,搜索用时 15 毫秒
1.
2.
Spectrum of pulmonary nontuberculous mycobacterial infection 总被引:5,自引:0,他引:5
3.
4.
Localization of a gene for otosclerosis to chromosome 15q25-q26 总被引:5,自引:0,他引:5
Tomek MS; Brown MR; Mani SR; Ramesh A; Srisailapathy CR; Coucke P; Zbar RI; Bell AM; McGuirt WT; Fukushima K; Willems PJ; Van Camp G; Smith RJ 《Human molecular genetics》1998,7(2):285-290
Among white adults otosclerosis is the single most common cause of hearing
impairment. Although the genetics of this disease are controversial, the
majority of studies indicate autosomal dominant inheritance with reduced
penetrance. We studied a large multi- generational family in which
otosclerosis has been inherited in an autosomal dominant pattern. Five of16
affected persons have surgically confirmed otosclerosis; the remaining nine
have a conductive hearing loss but have not undergone corrective surgery.
To locate the disease- causing gene we completed genetic linkage analysis
using short tandem repeat polymorphisms (STRPs) distributed over the entire
genome. Multipoint linkage analysis showed that only one genomic region, on
chromosome 15q, generated a lod score >2.0. Additional STRPs were typed
in this area, resulting in a lod score of 3.4. STRPs FES (centromeric) and
D15S657 (telomeric) flank the 14. 5 cM region that contains an otosclerosis
gene.
相似文献
5.
目的:研究L-门冬酰胺酶(L-Asparaginase,L-A)前体脂质体(Proliposome,PL)[L-APL]iv对小鼠的毒性及对荷瘤小鼠的抗肿瘤活性。方法:以小鼠的急性毒性和外周血中白细胞数及血小板数为指标观察药物对小鼠的毒性及以荷瘤小鼠的瘤重和生命延和工率观察药物的抗肿瘤活性;结果:L-APL iV对小鼠的急性毒性与L-A相比明显降低,L-APL对正常小鼠外周血中白细胞数,血小板数无明显影响,而相同剂量L-A对小鼠外周血中白细胞数,血小板数明显降低。与对照组相比,L-APL和L-Aip可明显延长腹水型小鼠移瘤L1210,P388的存活天数,与同剂量L-A相比,L-APL高剂量有明显延长腹水型小鼠移植瘤的存活天数作用。L-APL及L-A ip对小鼠移植瘤Heps,EC实体型的肿瘤生长具有明显的抑制作用,两者抑瘤作用相近。结论:L-APL对小鼠的毒性明显小于相同剂量的L-A,L-APL不仅保持了L-A的抗肿瘤活性,而且有明显的增效作用。 相似文献
6.
Martino K Merrit S Boyakye K Sernas T Koller C Hauser CJ Lavery R Livingston DH 《The Journal of trauma》1999,46(3):369-71; discussion 372-3
7.
Michael WT Chao David Byram Richard Bell Rodney Bond Steven Vaughan Roger McLennan Michael Lim-Joon Morikatsu Wada David Joseph 《Journal of Medical Imaging and Radiation Oncology》1998,42(1):47-51
Postoperative combined modality therapy with radiotherapy and 5-fluorouracil (5FU) chemotherapy is an effective adjuvant approach that reduces locoregional and distant metastatic disease in patients with high-risk rectal carcinoma. However, this approach results in a treatment regimen of at least 6 months’duration. The present prospective study investigates the integration of radiotherapy and 5FU chemotherapy in a protocol designed to minimize toxicity and reduce the overall treatment time. A total of 40 patients with TNM stage II or III disease received postoperative radiotherapy at four fractions per week with weekly 5FU bolus injections delivered on the fifth non-radiotherapy day. Patients also received systemic chemotherapy with leucovorin both before and after pelvic irradiation, with the total treatment duration extending for only 18 weeks. Patients were able to complete radiotherapy in 90% of cases, while the delivery of full-dose chemotherapy was achievable in the vast majority. The incidence of haematologic and gastrointestinal toxicities requiring the cessation of treatment was acceptable. With a median follow-up of 20.9 months among surviving patients, the estimated progression-free and overall survival at 2 years were 71 % and 79%, respectively. 相似文献
8.
9.
Arthur J Richardson Jerome M Laurence Vincent WT Lam 《HPB : the official journal of the International Hepato Pancreato Biliary Association》2014,16(1):12-19
Background
By attenuating the systemic inflammatory response to major surgery, the pre-operative administration of steroids may reduce the incidence of complications.Methods
A systematic review was conducted to identify randomized controlled trials (RCT) comparing pre-operative steroid administration with placebo during a liver resection. Meta-analyses were performed.Results
Five RCTs were identified including a total of 379 patients. Pre-operative steroids were associated with statistically significant reductions in the levels of serum bilirubin and interleukin 6 (IL-6) on post-operative day one. There was a trend towards a lower incidence of post-operative complications and prothrombin time (PT), but this did not reach statistical significance.Conclusion
Pre-operative steroids may be associated with a clinically significant benefit in liver resection. 相似文献10.
Esther D.A. van Duin Zuzana Kasanova Dennis Hernaus Jenny Ceccarini Alexander Heinzel Felix Mottaghy Siamak Mohammadkhani-Shali Oliver Winz Michael Frank Merrit C.H. Beck Jan Booij Inez Myin-Germeys Thérèse van Amelsvoort 《European neuropsychopharmacology》2018,28(6):732-742
22q11.2 deletion syndrome (22q11DS) is a genetic disorder caused by a microdeletion on chromosome 22q11.2 and associated with an increased risk for developing psychosis. The catechol-O-methyltransferase (COMT) gene is located in the deleted region and involved in dopamine (DA) breakdown. Impaired reinforcement learning (RL) is a recurrent feature in psychosis and thought to be related to abnormal striatal DA function. This study aims to examine RL and the potential association with striatal DA-ergic neuromodulation in 22q11DS. Twelve non-psychotic adults with 22q11DS and 16 healthy controls (HC) were included. A dopamine D2/3 receptor [18F]fallypride positron emission tomography (PET) scan was acquired while participants performed a modified version of the probabilistic stimulus selection task. RL-task performance was significantly worse in 22q11DS compared to HC. There were no group difference in striatal nondisplaceable binding potential (BPND) and task-induced DA release. In HC, striatal task-induced DA release was positively associated with task performance, but no such relation was found in 22q11DS subjects. Moreover, higher caudate nucleus task-induced DA release was found in COMT Met hemizygotes relative to Val hemizygotes. This study is the first to show impairments in RL in 22q11DS. It suggests that potentially motivational impairments are not only present in psychosis, but also in this genetic high risk group. These deficits may be underlain by abnormal striatal task-induced DA release, perhaps as a consequence of COMT haplo-insufficiency. 相似文献