A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: A Case report

Abstract Background Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Herein, we present the results of our study conducted to identify the pathogenic genetic variation involved in our patient affected by rigid spine muscular dystrophy. Case presentation A 14-year-old boy, product of a first-cousin marriage, was enrolled in our study with failure to thrive, fatigue, muscular dystrophy, generalized muscular atrophy, kyphoscoliosis, and flexion contracture of the knees and elbows. Whole-exome sequencing (WES) was carried out on the DNA of the patient to investigate all coding regions and uncovered a novel, homozygous missense mutation in SEPN1 gene (c. 1379 C > T, p.Ser460Phe). This mutation has not been reported before in different public variant databases and also our database (BayanGene), so it is classified as a variation of unknown significance (VUS). Subsequently, it was confirmed that the novel variation was homozygous in our patient and heterozygous in his parents. Different bioinformatics tools showed the damaging effects of the variant on protein. Multiple sequence alignment using BLASTP on ExPASy and WebLogo, revealed the conservation of the mutated residue. Conclusion We reported a novel homozygous mutation in SEPN1 gene that expands our understanding of rigid spine muscular dystrophy. Although bioinformatics analyses of results were in favor of the pathogenicity of the mutation, functional studies are needed to establish the pathogenicity of the variant

SpikeletFCN: Counting Spikelets from Infield Wheat Crop Images Using Fully Convolutional Networks

Currently, crop management through automatic monitoring is growing momentum, but presents various challenges. One key challenge is to quantify yield traits from images captured automatically. Wheat is one of the three major crops in the world with a total demand expected to exceed 850 million tons by 2050. In this paper we attempt estimation of wheat spikelets from high-definition RGB infield images using a fully convolutional model. We propose also the use of transfer learning and segmentation to improve the model. We report cross validated Mean Absolute Error (MAE) and Mean Square Error (MSE) of 53.0, 71.2 respectively on 15 real field images. We produce visualisations which show the good fit of our model to the task. We also concluded that both transfer learning and segmentation lead to a very positive impact for CNN-based models, reducing error by up to 89%, when extracting key traits such as wheat spikelet counts

Antitumor effect of IP-10 by using two different approaches: Live delivery system and gene therapy

Purpose: Immunotherapy is one of the treatment strategies for breast cancer, the most common cancer in women worldwide. In this approach, the patient�s immune system is stimulated to attack microscopic tumors and control metastasis. Here, we used interferon γ-induced protein 10 (IP-10), which induces and strengthens antitumor immunity, as an immunotherapeutic agent. We employed Leishmania tarentolae, a nonpathogenic lizard parasite that lacks the ability to persist in mammalian macrophages, was used as a live delivery system for carrying the immunotherapeutic agent. It has been already shown that arginase activity, and consequently, polyamine production, are associated with tumor progression. Methods: A live delivery system was constructed by stable transfection of pLEXSY plasmid containing the IP-10-enhanced green fluorescent protein (IP-10- egfp) fusion gene into L. tarentolae. Then, the presence of the IP-10-egfp gene and the accurate integration location into the parasite genome were confirmed. The therapeutic efficacy of IP- 10 delivered via L. tarentolae and recombinant pcDNA-(IP- 10-egfp) plasmid was compared by determining the arginase activity in a mouse 4T1 breast cancer model. Results: The pcDNA- (IP-10-egfp) group showed a significant reduction in tumor weight and growth. Histological evaluation also revealed that only this group demonstrated inhibition of metastasis to the lung tissue. The arginase activity in the tissue of the pcDNA-(IP- 10-egfp) mice significantly decreased in comparison with that in normal mice. No significant difference was observed in arginase activity in the sera of mice receiving other therapeutic strategies. Conclusion: Our data indicates that IP-10 immunotherapy is a promising strategy for breast cancer treatment, as shown in the 4T1-implanted BALB/c mouse model. However, the L. tarentolae- (IP-10-EGFP) live delivery system requires dose modifications to achieve efficacy in the applied regimen (six injections in 3 weeks). Our results indicate that the arginase assay could be a good biomarker to differentiate tumoral tissues from the normal ones. © 2016 Korean Breast Cancer Society. All rights reserved

Possibility of trout farms efluent return to groundwater In non-agricultural seasons

This project is trying to investigate water contamination after use in ponds. For this aquaculture status, physical and chemical water properties, microbial pollutants and heavy metals levels in the some of trout ponds effluent in East Azerbaijan province were evaluated in 2007 to 2009. The information of groundwater and climate conditions in ten years, Drilling and wells piezometric Information, in local wells are reviewed. According to data obtained from analysis of water samples in the output pools range studied concentrations(term mg/l) some parameters are as follows:(BOD: 1.9-3.2), (COD: 3.4-34.1), (TSS: 26.6-42.7), (N-NO_2:0.003-.136),(P-Po4:0.0170.067), (pH:7.75-8.28). Electrical conductivity (500 ±2 to 1129±144 term µm/cm) in the effluent ponds. Based on the results of we can say that between input and effluent ponds in the review of all factors as chlorine, sulfate, sodium, potassium, total nitrogen, soluble phosphorus, total phosphorus, calcium, total hardness, magnesium, alkalinity and silica significant changes not be observed. Review of water analysis data to some factors (such as: water temperature, EC, pH, NO_2, CO_2, HCO_3, CO_3, DO, COD, BOD) and compare this data with the authorities standard confirmed that the All factors mentioned in effluent is allowed now. In terms of microbial contamination and heavy metals (Zn, Cu, Ca, Pb, Fe, Cr) is no pollution. Appropriate strategies for removing suspended materials must to use. We can use Watershed Management solutions to inject output water to the underground table. Should be noted status change (eg change in flow rate, an unusual increase in temperature, fish density increasing, reducing food quality, lack of appropriate management actions and ...) may reduce the effluent quality and the ability of injection water underground to lose. In this case, measures must be for wastewater treatment and improve the quality ponder

Evaluation of rK39 rapid diagnostic tests for canine visceral leishmaniasis : longitudinal study and meta-analysis

Canine visceral leishmaniasis is a vector-borne disease caused by the intracellular parasite Leishmania infantum. It is an important veterinary disease, and dogs are also the main animal reservoir for human infection. The disease is widespread in the Mediterranean area, and parts of Asia and South and Central America, and is potentially fatal in both dogs and humans unless treated. Diagnosis of canine infections requires serological or molecular tests. Detection of infection in dogs is important prior to treatment, and in epidemiological studies and control programmes, and a sensitive and specific rapid diagnostic test would be very useful. Rapid diagnostic tests (RDTs) have been developed, but their diagnostic performance has been reported to be variable. We evaluated the sensitivity of a RDT based on serological detection of the rK39 antigen in a cohort of naturally infected Brazilian dogs. The sensitivity of the test to detect infection was relatively low, but increased with time since infection and the severity of infection. We then carried out a meta-analysis of published studies of rK39 RDTs, evaluating the sensitivity to detect disease and infection. The results suggest that rK39 RDTs may be useful in a veterinary clinical setting, but the sensitivity to detect infection is too low for operational control programmes