Correlation between genotype,metabolic data,and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common inherited disease of the mitochondrial long-chain fatty acid (LCFA) oxidation, may result in distinct clinical phenotypes, namely a mild adult muscular form and a severe hepatocardiomuscular disease with an onset in the neonatal period or in infancy. In order to understand the mechanisms underlying the difference in severity between these phenotypes, we analyzed a cohort of 20 CPT2-deficient patients being affected either with the infantile (seven patients) or the adult onset form of the disease (13 patients). Using a combination of direct sequencing and denaturing gradient gel electrophoresis, 13 CPT2 mutations were identified, including five novel ones, namely: 371G>A (R124Q), 437A>C (N146T), 481C>T (R161W), 983A>G (D328G), and 1823G>C (D608H). After updating the spectrum of CPT2 mutations (n=39) and genotypes (n=38) as well as their consequences on CPT2 activity and LCFA oxidation, it appears that both the type and location of CPT2 mutations and one or several additional genetic factors to be identified would modulate the LCFA flux and therefore the severity of the disease.     

Super absorption of solar energy using a plasmonic nanoparticle based CdTe solar cell

Improving the photon absorption in thin-film solar cells with plasmonic nanoparticles is essential for the realization of extremely efficient cells with substantial cost reduction. Here, a comprehensive study of solar energy enhancement in a cadmium telluride (CdTe) thin-film solar cell based on the simple design of a square array of plasmonic titanium nanoparticles, has been reported. The excitation of localized plasmons in the metallic nanostructures together with the antireflection coating (ARC) significantly enhances the absorption of photons in the active CdTe layer. The proposed structure attained super absorption with a mean absorbance of more than 97.27% covering a wide range from visible to near-infrared (i.e., from 300 nm to 1200 nm), presenting a 90% absorption bandwidth over 900 nm, and the peak absorption is up to 99.9%. For qualitative analysis, the photocurrent density is also estimated for AM 1.5 solar illumination (global tilt), whose value reaches 40.36 mA cm⁻², indicating the highest value reported to date. The impact of nanoparticle dimensions, various metal materials, shapes, and random arrangement of nanoparticles on optical absorption are discussed in detail. Moreover, the angle insensitivity is essentially validated by examining the absorption performance with oblique incidences and it is found that the solar cell keeps high absorption efficiency even when the incidence angle is greater than 0°. Therefore, these findings suggest that the proposed broadband structure has good prospect in attaining high power conversion efficiency while reducing the device cost.

Improving the photon absorption in thin-film solar cells with plasmonic nanoparticles is essential for the realization of extremely efficient cells with substantial cost reduction.     

Accounting for Uncertainty in Decision Analytic Models Using Rank Preserving Structural Failure Time Modeling: Application to Parametric Survival Models

Objectives

Rank Preserving Structural Failure Time models are one of the most commonly used statistical methods to adjust for treatment switching in oncology clinical trials. The method is often applied in a decision analytic model without appropriately accounting for additional uncertainty when determining the allocation of health care resources. The aim of the study is to describe novel approaches to adequately account for uncertainty when using a Rank Preserving Structural Failure Time model in a decision analytic model.

Extraction of Retinal Layers Through Convolution Neural Network (CNN) in an OCT Image for Glaucoma Diagnosis

Glaucoma is a progressive and deteriorating optic neuropathy that leads to visual field defects. The damage occurs as glaucoma is irreversible, so early and timely diagnosis is of significant importance. The proposed system employs the convolution neural network (CNN) for automatic segmentation of the retinal layers. The inner limiting membrane (ILM) and retinal pigmented epithelium (RPE) are used to calculate cup-to-disc ratio (CDR) for glaucoma diagnosis. The proposed system uses structure tensors to extract candidate layer pixels, and a patch across each candidate layer pixel is extracted, which is classified using CNN. The proposed framework is based upon VGG-16 architecture for feature extraction and classification of retinal layer pixels. The output feature map is merged into SoftMax layer for classification and produces probability map for central pixel of each patch and decides whether it is ILM, RPE, or background pixels. Graph search theory refines the extracted layers by interpolating the missing points, and these extracted ILM and RPE are finally used to compute CDR value and diagnose glaucoma. The proposed system is validated using a local dataset of optical coherence tomography images from 196 patients, including normal and glaucoma subjects. The dataset contains manually annotated ILM and RPE layers; manually extracted patches for ILM, RPE, and background pixels; CDR values; and eventually final finding related to glaucoma. The proposed system is able to extract ILM and RPE with a small absolute mean error of 6.03 and 5.56, respectively, and it finds CDR value within average range of ± 0.09 as compared with glaucoma expert. The proposed system achieves average sensitivity, specificity, and accuracies of 94.6, 94.07, and 94.68, respectively.     

Immune surveillance of human cancer: if the cytotoxic T-lymphocytes play the music, does the tumoral system call the tune?

Abstract
Accumulating evidence indicates that the innate and adaptive immune systems participate in the recognition and destruction of cancer cells by a process known as cancer immunosurveillance. Tumor antigen-specific cytotoxic T-lymphocytes (CTL) are the major effectors in the immune response against tumor cells. The identification of tumor-associated antigen (TAA) recognized primarily by CD 8⁺ T-lymphocytes has led to the development of several vaccination strategies that induce or potentiate specific immune responses. However, large established tumors, which are associated with the acquisition of tumor resistance to specific lysis, are usually not fully controlled by the immune system. Recently, it has become clear that the immune system not only protects the host against tumor development but also sculpts the immunogenic phenotype of a developing tumor and can favor the emergence of resistant tumor cell variants. Moreover, it has become obvious that the evasion of immunosurveillance by tumor cells is under the control of the tumor microenvironment complexity and plasticity. In this review, we will focus on some new mechanisms associated with the acquisition of tumor resistance to specific lysis during tumor progression, involving genetic instability, structural changes in cytoskeleton, and hypoxic stress. We will also discuss the interaction between CTLs and tumor endothelial cells, a major component of tumor stroma.     

An association of HIV infection and noma in Niger

We report a case of noma having occurred in an adult female patient with HIV. The strain was characterized as HIV-1 group M subtype G. In order to explore the interactions between HIV/AIDS and this disease, we purpose systematic HIV screening for any case of noma, especially for adult patients.