ObjectiveTo investigate the clinical characteristics and surgical management of the familial exudative vitreoretinopathy (FEVR)-associated rhegmatogenous retinal detachment (RRD).
MethodsRetrospective noncomparative case series. Thirty-three eye of 32 patients were diagnosed FEVR-associated RRD by Fluorescein fundus angiography. There were 26 males and 6 females. The male to female ratio is 4.3:1 with an average age of 19.35±8.83 years. The detection of best corrected visual acuity (BCVA), refraction status, fundus photograph and fluorescein fundus angiography(FFA)were underwent in all patients. FEVR was confirmedby FFA and positive family history. The BCVA, refraction status, morphology of retinal detachment, location, size and shape of retinal hole, presence and grade of proliferative vitreoretinopathy (PVR), and subretinal proliferation were recorded.
ResultsAs for the refractive status, the scope of refraction was +2.0 D to-13.0 D andthe BCVA were range from light perception to 0.7. Atrophy holes which located at the temporal half were responsible for retinal detachment in all cases. Besides, horseshoe tears were noted in 6 eyes (18.18%), while macular tears were noted in 2 eyes of RRD (6.06%). The PVR greater than stage C2 was noticed in 10 eyes (30.30%), while subretinal proliferation was presented in 23 eyes (69.70%).
ConclusionsMale predominance, juvenile onset and associated with moderate to high myopia are the main characteristics in FEVR-associated RRD. Atrophy holes at the temporal half and the subretinal proliferations were most commonly in FEVR-associated RRD. Detailed fuduns and FFA examination of the fellow eye should be undergone to avoid misdiagnosis.
Objective To identify genes associated with hepatocellular carcinoma (HCC) as candidate diagnostic markers in a genome-wide scale. Methods The gene expression profiles of 40 pairs of HCC tumor tissue and peripheral non-tumorous liver tissue were analyzed by using gene chip technology.The gene chips were fabricated at the National Cancer Institute (NCI). Each gene chip contained 9 180 genes. The fluorescent targets were prepared by a direct labeling approach using two kinds of fluorescences as following: 100 μg of total RNA from non-cancerous liver tissue was labeled with Cy3-dUTP and 200 μg of total RNA from HCC was labeled with Cy5-dUTP. The targets were mixed together and hybridized with genes on the gene chips. Unsupervised hierarchical clustering analysis was done by CLUSTER and TREEVIEW software using median centered correlation and complete linkage. Results A total of 10 genes were found up-regulated in over 80% of primary tumors comparing with that of their corresponding non-tumorous liver tissues at a two-fold filter with an unsupervised hierarchical clustering algorithm, including protocadherin-alpha 9, ESTs, Homo sapiens cDNA FLJ, KPNA2, RPS20, SNRPE, CDKN2A, UBD, MDK and ANXA2.Conclusion These genes are supposed to be candidates for the diagnosis of HCC. Further investigation of these genes in a large scale of patients with HCC and patients with non-malignant hepatic diseases will be needed to disclose whether they could be used clinically as novel diagnostic tumor markers for HCC.
The comparative diagnostic test accuracy (CDTA) study is an important part of diagnostic test accuracy, which aims to compare the accuracy of two or more index tests in the same study. With the development of CDTA studies and the methodology of systematic reviews, the number of CDTA systematic reviews has grown year by year and has provided evidence to support clinical decision-making. Compared with systematic review of single diagnostic test accuracy, the CDTA systematic review has its own unique features, especially in data extraction, risk of bias, and statistical analysis. This paper introduced the steps and precautions for writing a CDTA systematic review to provide references for CDTA systematic reviewers.
Cryptococcosis, mainly caused by Cryptococcus neoformans/gattii species complexes, is a lethal infection in both immunosuppressive and immunocompetent populations. With the upgrade of detection methods and the increase of clinical knowledge, the incidence rate of cryptococcosis is increasing, and it has become one of the most important fungi threatening human health. In recent years, great progress has been made in this field, including the taxonomy and nomenclature of Cryptococcus spp., laboratory diagnostic methods and antifungal susceptibility tests, as well as the characteristics and treatments of cryptococcosis. This article reviews the above contents, in order to improve the clinical and laboratory understanding of the Cryptococcus spp., and realize the timely diagnosis and early treatment of cryptococcosis.
ObjectiveTo evaluate the performance of nuchal translucency (NT) measurement in the first trimester of pregnancy as a marker for congenital heart defects (CHD).
MethodsFrom January 2010 to December 2012, middle-low risk pregnant women were prospectively evaluated at the Department of Ultrasound in West China Second Hospital of Sichuan University about Nuchal translucency and echocardiography.
ResultsNT measurements was performed in 2 443 women from 2 764 pregnancy women, and a total of 2 125 case could be used in data analysis. NT measurement >2.5 mm was found in 68 fetuses, and 11 cases were diagnosed as CHD (prevalence 5.2/1 000). The sensitivity and specificity of NT measurement >2.5 mm for CHD were 45.5% and 87%, respectively.
ConclusionIncreasing nuchal translucency might increase the risk of CHD in fetuses, and could be used as a method to diagnosis CHD.
Objective
To observe the characteristics of multiple evanescent white dot syndrome (MEWDS) with modern multimodal imaging modalities.
Methods
This was a retrospective case study. Eleven patients (11 eyes) diagnosed with MEWDS were enrolled. There were 10 females and 1 male, mean age was 27.6 years (range 15-41 years). The period between disease onset and visiting to the hospital was between 2 to 13 days, the average time was 4.7 days. All the patients underwent examinations of best corrected visual acuity, slit-lamp biomicroscope, indirect ophthalmoscope, fundus color photography, fundus autofluorescence (FAF), fundus fluorescein angiography (FFA), indocyanine green angiography (ICGA) and spectral domain optical coherence tomography (SD-OCT). The mean follow up duration was 3.2 months. The imaging characteristics were compared.
Results
Fundus color photography showed foveal orange-red granularity in all eyes. FAF showed strong autofluorescence with a vague boundary. FFA showed a variable number of highly fluorescent fine needle-like dots arranged in a ring in the early stage, and fluorescence remained in the late stage. ICGA showed advanced lesions of vague boundary merged into a large plaque of deep retinal hypofluorescence. SD-OCT showed the hyperreflectant material deposit over the retinal pigment epithelium and extending anteriorly through the interdigitation zone, ellipsoid layer, and toward the external limiting membrane. At the site of extrafoveal lesions, SD-OCT revealed the presence of discontinuities or disruptions centered on the ellipsoid zone to include the interdigitation.
Conclusions
In MEWDS patients, fundus photography showed foveal orange-red granularity; FFA showed early fluorescent dots distributed in a ring pattern; ICGA showed hypofluorescent lesions in the later stage; SD-OCT showed disruption of the interdigitation zone and ellipsoid zone and accumulations of hyperreflective material that was of variable size and shape; FAF showed strong autofluoresce areas that correlated to spots observed with FFA and ICGA.
Along with an increase in the number of diagnostic studies, researchers have begun to focus on the resources and strategies to identify diagnostic studies. This paper introduces some of the available resources, including databases based on diagnostic studies, secondary study resources and bibliography databases, etc. Although some search strategies can be used to identify diagnostic studies, specific search terms and strategies aimed at different databases should also be considered.
Objective To observe the optical coherence tomography (OCT) features of Best vitelliform macular dystrophy (BVMD) at different stages.Methods Twenty-eight BVMD patients (56 eyes) were enrolled in this study. All the patients were examined for visual acuity, slit-lamp microscopy, direct ophthalmoscope, fundus photography, electrooculogram, fundus fluorescein angiography (FFA) and OCT. Fifty-six eyes were classified into stage 0 (eight eyes)、Ⅰ (two eyes)、Ⅱ(10 eyes)、Ⅱa （12 eyes）、Ⅲ (six eyes) 、Ⅳa (six eyes)、Ⅳb (five eyes) and Ⅳc (seven eyes) accordingly. The OCT features of BVMD at different stages were observed.Results The OCT results showed that the macular area was normal in eyes of stage 0; disturbance of retinal pigment epithelium (RPE) and subretinal hyporeflective area were found in eyes of stage I; the location of the yellowish material between RPE and the inner segment and outer segment (IS/OS) with normal appearance in RPE and IS/OS interface were found in eyes of stage Ⅱ. In all the other progressing stages from Ⅱa、Ⅲ and Ⅳ, the vitelliform material appeared as a thicker highly reflective lesion located between the outer nuclear layer and RPE layer, usually accompanied by optical hyporeflective lesion. Images of stage Ⅳc were in similar appearance besides edema of retina. OCT images of Ⅳb stage were demonstrated atrophy of retinal layer and IS/OS loss with fibrosis. Conclusions OCT demonstrated the location of the yellowish material between RPE and IS/OS. Optical hyporeflective lesion between the outer nuclear layer and RPE layer accompanied thicker highly reflected lesion might be the characteristic image in stages II a to IV of BVMD.
ObjectiveTo evaluate the value of 120 kV portal venous phase images combined with iodine maps created from dual-source dual-energy CT (DECT) for the diagnosis of pancreatic necrosis in the early stage of acute pancreatitis.
MethodsThis prospective study enrolled 17 patients who underwent abdominal dual-source DECT within 72 hours from the onset of acute pancreatitis. All patients had received treatment in West China Hospital from May 2014 to August 2014. Comparison of the diagnostic value of 120 kV portal venous phase images alone and 120 kV portal venous phase images combined with iodine maps created from dual-source DECT was performed.
ResultsSix of the 17 patients were found the presence of pancreatic necrosis (4 patients without obvious necrosis in the early stage developed to pancreatic necrosis, and 2 patients with the presence of necrosis in the early stage improved). The sensitivity, specificity, and accuracy of 120 kV portal venous phase images for the diagnosis of pancreatic necrosis were 50.0% (3/6), 100% (11/11), and 82.4% (14/17), respectively, and it had a good diagnostic value (AUC=0.856, P=0.018). The sensitivity, specificity, and accuracy of 120 kV portal venous phase images combined with iodine maps created from dual-source DECT for predicting pancreatic necrosis were 100% (6/6), 90.9% (10/11), and 94.1% (16/17), respectively, and this method had good value too (AUC=0.977, P=0.002), which higher than that of 120 kV portal venous phase images (P=0.002).
ConclusionsThe 120 kV portal venous phase images combined with iodine maps created from dual-source DECT is helpful to improve subjective judgment in the diagnosis of pancreatic necrosis in the early stage of acute pancreatitis. It also contributes to the display of hypo-perfusion area of the pancreatic parenchyma, and has higher diagnostic value.
