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Murine Brca1: sequence and significance for human missense mutations   总被引:4,自引:3,他引:4  
We have cloned and sequenced a mouse homologue of the humanbreast and ovarian cancer susceptibility gene, BRCA1. The predictedmouse Brca1 protein is composed of 1812 amino acids. The murineprotein is 60% identical and 72% similar to the human BRCA1protein. Two regions of high homology have been identified betweenthe two proteins. First is the Cys3—His—Cys4 typezinc-finger domain that is identical between the two proteins.The second region is defined by 115 amino acids near the carboxyend of the Brca 1 protein that is 83% identical to human BRCA1sequence. Seven of eight amino acids involved in human missensemutations that are associated with the disease were found tobe conserved between the two species. In contrast, most of theamino acids that are involved in polymorphic variations werenot conserved. We therefore propose that the interspecies conservationof predicted amino acid sequences can be used as an additionalcriterion to determine the significance of human missense mutations.  相似文献   
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An assessment of burn depth is a key step in guiding the treatment of patients who have sustained thermal injuries. Polarization-sensitive optical coherence tomography (PS-OCT) might eventually provide the physician with a quantitative estimate of actual burn depth. Burns of various depths were induced by contacting rat skin with a brass rod preheated to 75 degrees C for 5, 15, or 30 s. Thermal injury denatured the collagen in the skin, and PS-OCT imaged the resulting reduction of birefringence through the depth-resolved changes in the polarization state of light propagated and reflected from the sample. Stokes vectors were calculated for each point in the PS-OCT images and the reduction in the rate of phase retardation between two orthogonal polarizations of light (deg/microm) was found to show a consistent trend with burn exposure time. PS-OCT is a noninvasive technique with potential to give the physician the information needed to formulate an optimal treatment plan for burn patients.  相似文献   
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Lasers in Medical Science - To evaluate the effect of various media and Iridex MicroPulse P3 (MP3) probe angles on the power output from the Cyclo G6 Glaucoma Laser (G6) System. A laser power meter...  相似文献   
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IntroductionLatarjet procedure is commonly performed for recurrent anterior shoulder instability with glenoid side bone loss. Classic Latarjet procedure can be performed using specially designed drill guides, jigs, or by freehand technique. Here we have described a technical note on classic Latarjet procedure performed with freehand technique utilizing simple rulers and caliper. The functional and radiological outcomes of our patients have also been analysed.Material and Methods149 open classic Latarjet procedures were performed using our technique between March 2015 and July 2018. The mean age of the patients was 32.95 years (Range 22–59 years). The functional outcome of the patients was measured using Western Ontario Shoulder Instability (WOSI) and Oxford Shoulder Instability Score (OSIS) at 2 years of follow-up. Screw and graft positioning were studied in 24 consecutive patients with a postoperative computed tomography (CT) scan.ResultsThere was no incidence of recurrent subluxation or dislocation post-surgery. Mean OSIS score increased from 15.63 ± 3.20 preoperatively to 42.44 ± 3.88 postoperatively (p value < 0.05). WOSI score decreased significantly from 62.54% ± 8.24 to 10.26 ± 6.33 postoperatively at 2-year follow-up (p value < 0.05). Postoperative CT scan also showed satisfactory screw placement in all patients.ConclusionOpen Latarjet procedure performed using freehand technique provides good functional and radiological outcomes in patients with recurrent anterior shoulder instability with glenoid side bone loss.Supplementary InformationThe online version contains supplementary material available at 10.1007/s43465-021-00385-7.  相似文献   
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Direct-acting antiviral (DAA) therapy has transformed the management of human immunodeficiency virus (HIV) and hepatitis C (HCV) coinfected patients with advanced liver disease. STOP-Coinfection was a multicenter prospective and retrospective, open-label study using sofosbuvir-based DAA therapy to treat HIV/HCV-coinfected participants pre– or post–liver transplant (LT). Sixty-eight participants with end-stage liver disease (Child-Turcotte-Pugh score ≥7 and Model for End-Stage Liver Disease score 6–29) were enrolled, 26 had hepatocellular carcinoma. Forty-two participants were treated pre–LT and 26 post–LT. All participants completed therapy without need for dose reduction or transfusion; eight required two or more courses of therapy. Ninety-three percent achieved a sustained virologic response and DAA therapy was well tolerated. Despite HCV cure, 12 end-stage liver disease participants required subsequent LT, 7 for decompensated liver disease. Thirteen participants died, 10 with decompensated liver disease pre–LT and three post–LT. Overall, transplant free survival was 42.8% at 4 years and post–LT survival was 87.9% at 5 years. We conclude that sofosbuvir-based DAA therapy is safe and highly effective in HCV-HIV patients with decompensated liver disease and post–LT, with post–LT survival rates comparable to other indications. This removes one of the last barriers to liver transplantation in this challenging cohort of recipients.  相似文献   
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In the context of declining economic growth, now exacerbated by the coronavirus disease 2019 pandemic, Papua New Guinea is increasing the efficiency of its health systems to overcome difficulties in reaching global health and development targets. Before 2015, the national health information system was fragmented, underfunded, of limited utility and accessed infrequently by health authorities. We built an electronic system that integrated mobile technologies and geographic information system data sets of every house, village and health facility in the country. We piloted the system in 184 health facilities across five provinces between 2015 and 2016. By the end of 2020, the system’s mobile tablets were rolled out to 473 facilities in 13 provinces, while the online platform was available in health authorities of all 22 provinces, including church health services. Fractured data siloes of legacy health programmes have been integrated and a platform for civil registration systems established. We discuss how mobile technologies and geographic information systems have transformed health information systems in Papua New Guinea over the past 6 years by increasing the timeliness, completeness, quality, accessibility, flexibility, acceptability and utility of national health data. To achieve this transformation, we highlight the importance of considering the benefits of mobile tools and using rich geographic information systems data sets for health workers in primary care in addition to the needs of public health authorities.  相似文献   
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Journal of Digital Imaging - Measurement of angles on foot radiographs is an important step in the&nbsp;evaluation of malalignment. The objective is to develop a CNN model to measure angles on...  相似文献   
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