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Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1
No full text coding region mutations. promoter activity., respectively. The c.-307T>C variant demonstrated increased promoter activity in corneal endothelial cells when compared to the wild-type sequence as has been demonstrated previously in another cell type. variants, or CNV involving the PPCD1 and PPCD3 loci in 26 other PPCD probands suggests that other genetic loci may be involved in the pathogenesis of PPCD
Hydrocephalus and arthrogryposis in an immunocompetent mouse model of ZIKA teratogeny: A developmental study
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Classification of brain disease in magnetic resonance images using two-stage local feature fusion
No full textMany classification methods have been proposed based on magnetic resonance images. Most methods rely on measures such as volume, the cerebral cortical thickness and grey matter density. These measures are susceptible to the performance of registration and limited in representation of anatomical structure. This paper proposes a two-stage local feature fusion method, in which deformable registration is not desired and anatomical information is represented from moderate scale.Keypoints are firstly extracted from scale-space to represent anatomical structure. Then, two kinds of local features are calculated around the keypoints, one for correspondence and the other for representation. Scores are assigned for keypoints to quantify their effect in classification. The sum of scores for all effective keypoints is used to determine which group the test subject belongs to.We apply this method to magnetic resonance images of Alzheimer's disease and Parkinson's disease. The advantage of local feature in correspondence and representation contributes to the final classification. With the help of local feature (Scale Invariant Feature Transform, SIFT) in correspondence, the performance becomes better. Local feature (Histogram of Oriented Gradient, HOG) extracted from 16×16 cell block obtains better results compared with 4×4 and 8×8 cell block.This paper presents a method which combines the effect of SIFT descriptor in correspondence and the representation ability of HOG descriptor in anatomical structure. This method has the potential in distinguishing patients with brain disease from controls
False Lumen Flow Patterns and their Relation with Morphological and Biomechanical Characteristics of Chronic Aortic Dissections. Computational Model Compared with Magnetic Resonance Imaging Measurements
No full textMapping the sensory perception of apple using descriptive sensory evaluation in a genome wide association study
No full textExpression in Normal and Cancerous Human Hepatocytes
No full text). at both the transcriptional and translational levels was determined by RT-qPCR and Western blotting, respectively. protein level remained constant. under conditions of FA deficiency in normal and cancerous human hepatocytes. The results also implied that miR-22-3p/miR-149-5p might exert anticancer effects in cases of long-term FA deficiency
Peripheral blood metabolic and inflammatory factors as biomarkers to ocular findings in diabetic macular edema
No full textTo study the association between peripheral blood metabolic and inflammatory factors and presence of diabetic macular edema (DME) and its related anatomic features in type 2 diabetic mellitus (T2DM) patients.Observational cross-sectional study on a proof of concept basis. Seventy-six T2DM included patients were divided based on the presence (n = 58) or absence of DME (n = 18) according to optical coherence tomography (OCT). Ultra-widefield fluorescein angiography (UWFA) was performed in DME patients. Fasting peripheral blood sample testing included glycemia, glycated hemoglobin, creatinin and lipid levels among others. Serum levels of a broad panel of cytokines and inflammatory mediators were also analysed. OCT findings included central subfoveal thickness, diffuse retinal thickness (DRT), cystoid macular edema (CME), serous retinal detachment and epirretinal membrane. UWFA items included pattern of DME, presence of peripheral retinal ischemia and enlarged foveal avascular zone (FAZ).Metabolic and inflammatory factors did not statistically differ between groups. However, several inflammatory mediators did associate to certain ocular items of DME cases: IL-6 was significantly higher in patients with DRT (p = 0.044), IL-10 was decreased in patients with CME (p = 0.012), and higher IL-8 (p = 0.031) and VEGF levels (p = 0.031) were observed in patients with enlarged FAZ.Inflammatory and metabolic peripheral blood factors in T2DM may not be differentially associated to DME when compared to non-DME cases. However, some OCT and UWFA features of DME such as DRT, CME and enlarged FAZ may be associated to certain systemic inflammatory mediators
Differential DNA Methylation Regions in Adult Human Sperm following Adolescent Chemotherapy: Potential for Epigenetic Inheritance
No full textThe potential that adolescent chemotherapy can impact the epigenetic programming of the germ line to influence later life adult fertility and promote epigenetic inheritance was investigated. Previous studies have demonstrated a number of environmental exposures such as abnormal nutrition and toxicants can promote sperm epigenetic changes that impact offspring.Adult males approximately ten years after pubertal exposure to chemotherapy were compared to adult males with no previous exposure. Sperm were collected to examine differential DNA methylation regions (DMRs) between the exposed and control populations. Gene associations and correlations to genetic mutations (copy number variation) were also investigated.A signature of statistically significant DMRs was identified in the chemotherapy exposed male sperm. The DMRs, termed epimutations, were found in CpG desert regions of primarily 1 kilobase size. Observations indicate adolescent chemotherapy exposure can promote epigenetic alterations that persist in later life.This is the first observation in humans that an early life chemical exposure can permanently reprogram the spermatogenic stem cell epigenome. The germline (i.e., sperm) epimutations identified suggest chemotherapy has the potential to promote epigenetic inheritance to the next generation