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Retinoblastoma with an unusual presentation in a child with polydactyly. Clinical associations and genetic implications 总被引:1,自引:0,他引:1
Tsinopoulos I Papadopoulou V Papandroudis A Stangos N 《Acta ophthalmologica Scandinavica》2001,79(1):79-80
Retinoblastoma is the most common intraocular malignancy of childhood. It may rarely present with white spots on the iris and pseudohypopyon. We report a case of an 11-month old child with polydactyly with this presentation of retinoblastoma. There was no positive family history of the disease. Investigations included anterior segment examination under anaesthesia, fundoscopy with scleral indentation, A- and B-scan ultrasound and MRI examination of the head. This was a Reese Ellsworth group 5 retinoblastoma with an indication for enucleation. Pathology reports of the enucleated globe showed choroidal and ciliary body invasion. Therefore, subsequent chemotherapy treatment was undertaken. The retinoblastoma gene is located in the long arm of chromosome 13. Almost all familial and bilateral cases carry the abnormal gene. In unilateral isolated retinoblastomas--as in our case--most patients do not have a germinal mutation, however, only DNA analysis can safely exclude that. We also discuss possible factors having a link to both polydactyly and retinoblastoma. 相似文献
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Stangos AN Petropoulos IK Pournaras JA Zaninetti M Borruat FX Pournaras CJ 《American journal of ophthalmology》2007,144(1):131-134
PURPOSE: To correlate the structural and functional retinal defects, which are induced photochemically in chronic solar retinopathy. DESIGN: Observational case report. METHODS: Four emmetropic eyes of two patients, previously diagnosed with chronic solar retinopathy, were evaluated by optical coherence tomography (OCT), multifocal electroretinography, and fluorescein angiography. RESULTS: Visual acuity ranged from 20/80 to 20/50 and all subjects had central and steady fixation. In all eyes, OCT demonstrated a hyporeflective space at the level of outer retinal and retinal pigment epithelium (RPE) layers, which was limited to the fovea. The foveal contour was preserved with normal vitreoretinal interface. Multifocal electroretinogram (mfERG) trace array of the first-order kernel demonstrated attenuated responses extending to a larger area, the para- and perifovea. A foveal RPE window defect was angiographically evident in all cases. CONCLUSIONS: A model of centrifugal neuronal damage is proposed for chronic solar retinopathy, with more functional than structural neuroretinal defects. 相似文献
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泛昔洛韦等3种药物抗乙型肝炎病毒的体外实验研究 总被引:8,自引:1,他引:7
目的评价泛昔洛韦、膦甲酸钠及氧化苦参碱的体外抗HBV作用.方法采用MTT法检测3种药物对HepG2.2.15细胞的半数毒性浓度(TC5o),并在此基础上观察不同浓度药物作用于HepG2.2.15细胞后第3、5、7和9天培养上清中HBsAg、HBeAg及HBV DNA含量的变化,比较不同药物抗HBV的效果.结果泛昔洛韦和氧化苦参碱对HepG2.2.15细胞有明显的抗HBV活性,在实验浓度范围内,随着药物浓度增加和作用时间延长,其抗HBV活性增强;膦甲酸钠对HBV无明显抑制作用.结论泛昔洛韦和氧化苦参碱具有明显体外抗HBV活性,而膦甲酸钠体外对HBV无明显抑制作用. 相似文献
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NT Ventham RR Brady RG Stewart BM Ward C Graham S Yalamarthi M Jones T Daniel 《Annals of the Royal College of Surgeons of England》2012,94(8):569-573
INTRODUCTION
Parastomal herniation occurs in 30–50% of colostomy formations. The aim of this study was to radiologically evaluate the mechanical defects at stoma sites in patients who had previously undergone a permanent colostomy with or without mesh at the index operation for colorectal cancer.METHODS
A study was performed of all colorectal cancer patients (n=41) having an end colostomy between 2002 and 2010, with or without Prolene® mesh plication, with blinded evaluation of the annual follow-up staging computed tomography (CT) for stomal characteristics. The presence of parastomal hernias, volume, dimensions, grade of the parastomal hernia and abdominal wall defect size were measured by two independent radiologists, and compared with demographic and operative variables.RESULTS
In those patients with radiological evidence of a parastomal hernia, Prolene® mesh plication significantly reduced the incidence of bowel containing parastomal hernias at one year following the procedure (p<0.05) and also reduced the diameter of the abdominal wall defect (p=0.006).CONCLUSIONS
Prophylactic mesh placement at the time of the index procedure reduces the diameter of abdominal wall aperture and the incidence of parastomal hernias containing bowel. Future studies should use both objective radiological as well as clinical endpoints when assessing parastomal hernia development with and without prophylactic mesh. 相似文献57.
The purpose of this research was to determine if the accuracy of HIV saliva and serum test results were influenced by changes in collection sites. In order to do so, serum and saliva samples were collected from 615 subjects in eight different geographic settings. The oral fluid collection/testing systems utilized were the Orapette SalivaCard HIV-1/HIV-2 antibody test (Trinity Biotech, Ireland) and the Omni-SAI/Immuno Comb II HIV 1 & 2 Saliva Test (Orgenics Ltd, Israel). For comparison, serum samples were tested by ELISA (Ortho) with reactive results confirmed via HIV-1 and HIV-2 Western blots (Biotech/Dupont, Institute Pasteur). The HIV serum and oral fluid collections were conducted in numerous test sites, which provided a great diversity in temperature, lighting and physical layout. The tests proved to be 99.8% and 100% specific, and both were 100% sensitive, regardless of the physical setting of the collections. While these systems are not currently available in the US, this study clearly demonstrates they can accurately be utilized in a variety of clinical settings, providing great promise for future applications. 相似文献
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The reality of health care is continuously changing. Therefore, nursing teachers have to encourage and promote a critical, inquiry-oriented approach to work. This demands self-reflection during the teacher education. Teaching training crystallizes the objectives of teacher education; the process of self-reflection should be seen especially there. 相似文献