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Identification and functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts(MLC)

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Identification and functional studies of MLC1 mutations in C...

Exploring the Effects of Gap-Penalties in Sequence-Alignment Approach to Polymorphic Virus Detection

中国的遗传学研究——遗传学进步推动中国西部经济与社会发...

作者： ajit Sigh DHAUCHAK Montreal Neurological Institute

Objective Megalencephalic leukoencephalopathy with subcortical cysts(MLC, M1M# 604004) is an autosomal recessively inherited disease resulting from a deficiency of MLCI *** study was to identify MLCI mutations and perform their functional studies in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).Methods The analysis of clinical features and MLCI mutation screening were performed in 13 Chinese *** functional study of MLCI variants was carried out by western blot,real-time PCr and confocal microscope.U373MG cells transfected by ***3.1-HA-MLCl wildtype and mutants were immunoassayed with antibodies of HA and calnexin,an Er *** A total of 10 MLCI mutations were identified in these patients,including five novel missense mutations(c.65G>A,p.r22Q;c.95C>T,p.A32V;c.218G>A,p.G73E;c.823G>A,p.A275T;c.832T>C,p.Y278H),one novel splicing mutation (c.772-1G>C in IVS9-1),one novel small deletion(c.90730del,p.V303310del),one known nonsense mutation(c.593delCTCA,p.Y198X) and two known missense mutations (c.206C>T,p.S69L;c.353C>T,p.T118M).Compared with the protein expression in WT,the protein expression in mutants A32V,G73E,S69L,T118M,Y198X,A275T and C278r were reduced in different level(all prences was found for protein expression in mutant *** with mrNA expression in WT,that in mutants G73E, T118M,Y198X and A275T were at a lower level(prstrocyte borders,whereas MLC1 mutants r22Q and A32V are mainly intracellularly localized,and S69L,G73E,T118M are mildly retained at ***,other mutations are mainly at cell *** Ten DNA variations of MLC1 gene were identified including seven novel ***1 mutants associated with MLC likely disrupt MLC1 protein and mrNA expression and *** would be the first report about MLC1 mutations in patients with megalencephalic leukoencephalopathy with subcortical cysts in China.

关键词： Megalencephalic leukoencephalopathy with subcortical cysts MLC1 Mutation Location Expression

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Journal of Information Security 2017年第4期8卷 296-327页

作者： Vijay Naidu Jacqueline Whalley ajit Narayanan School of Engineering Computer and Mathematical Sciences Auckland University of Technology Auckland New Zealand

Antiviral software systems (AVSs) have problems in identifying polymorphic variants of viruses without explicit signatures for such variants. Alignment-based techniques from bioinformatics may provide a novel way to generate signatures from consensuses found in polymorphic variant code. We demonstrate how multiple sequence alignment supplemented with gap penalties leads to viral code signatures that generalize successfully to previously known polymorphic variants of JS. Cassandra virus and previously unknown polymorphic variants of ***/*** and *** viruses. The implications are that future smart AVSs may be able to generate effective signatures automatically from actual viral code by varying gap penalties to cover for both known and unknown polymorphic variants.

关键词： Polymorphic Malware Variants Gap Penalties Syntactic Approach Pairwise Sequence Alignment Multiple Sequence Alignment Automatic Signature Generation Smith-Waterman Algorithm JS. Cassandra Virus W32.CTX/W32.Cholera Virus W32.Kitti Virus

传统MrI成像与MrI弥散成像联合应用在颅内边缘强化病灶的鉴别诊断中的价值

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传统MRI成像与MRI弥散成像联合应用在颅内边缘强化病灶的鉴别诊断...

作者： ajit Thapa 吉林大学

学位级别：硕士

背景与目的：具有不典型的DWI特征的脓肿与具有坏死区的高级别颅内肿瘤单纯依靠DWI难以区别。我们试图通过对比分析不同的MrI图像，将DWI与传统的MrI图像相结合，来实现对边缘强化的颅内病变的病因加以区分。方法：本研究共包括了51... 详细信息

背景与目的：具有不典型的DWI特征的脓肿与具有坏死区的高级别颅内肿瘤单纯依靠DWI难以区别。我们试图通过对比分析不同的MrI图像，将DWI与传统的MrI图像相结合，来实现对边缘强化的颅内病变的病因加以区分。方法：本研究共包括了51例患者、共58个核磁共振显示为边缘强化的颅内病灶，其中32例为男性，19例为女性，平均年龄48.47岁，均于2012年行外科手术治疗。对病灶的传统核磁共振图像和弥散成像的不同影像特征以及相应的病理学结果进行研究分析，为保证诊断精度，我们对数量变量进行了敏感性、特异性、阳性预测值、阴性预测值的统计学验证，而对于质量变量则以rOC曲线下面积来进行统计学验证。结果在58个边缘强化病灶中，有21例是原发肿瘤，18例为脓肿，14例为继发肿瘤，5例为NCC。22个病灶中心部有弥散受限，22个病灶具有较薄且光滑的边壁，且23个具有低T2的完整边缘。无强化的病灶中心部的弥散受限在区分脓肿与非脓肿病灶方面的敏感性和特异性分别为88.89%和90.24%（p rOC曲线下的面积是0.719）。将同时具有无强化中心部的弥散受限以及均匀光滑的薄壁样强化为特征来鉴别脓肿与非脓肿性病变时，其敏感性和特异性分别为72.22%和100%，即具有很高的特异性。结论在对颅内边缘强化病灶的不同MrI特征分析研究中，较之单纯依靠DWI结果来评价病灶，将病灶边缘的影像学特征与病灶的DWI特征相结合会更加有帮助。

关键词：颅内边缘增强病变 MrI DWI 弥散受限完整的T2低信号边缘

Long term results of use of azathioprine in patients with ulcerative colitis in India

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World Journal of Gastroenterology 2006年第45期12卷 7332-7336页

作者： ajit Sood Vandana Midha Neena Sood Manu Bansal Departments of Gastroenterology Dayanand Medical College and Hospital Ludhiana 141001 Punjab India Departments of Medicine Dayanand Medical College and Hospital Ludhiana 141001 Punjab India Departments of Pathology Dayanand MedicalCollege and Hospital Ludhiana 141001 Punjab India

AIM: To evaluate the role of azathioprine (AZA) in Indian patients with ulcerative colitis over longer duration of time. METHODS: One hundred f ifty six patients with ulcerative colitis who were treated with AZA from January 1995 to December 2003 were reviewed. The indications for its use were as follows: (1) steroid dependent and steroid refractory disease; (2) Azathioprine monotherapy for na?ve patients with severe disease; and (3) combination therapy (AZA + sulfasalazine or 5-aminosalicylates) for na?ve patients with severe disease. The data included patient and disease demographics, effi cacy and toxicity profi le of AZA. Patients with a minimum duration of 6 mo use of AZA were included in this report. rESULTS: Of a total of 156 patients treated with AZA, 45 were excluded from analysis for the following reasons- (follow up less than 6 mo, n = 9; poor follow up, n = 18; adverse affects, n = 18). In steroid refractory/dependent group the mean number of relapses prior to and post initiation of AZA therapy were 3.28 (± 0.81) and 0.94 (± 0.29) respectively. Discontinuation of steroids could be accomplished in 12 of the 15 steroid dependent patients. The proportion of patients with sustained remission of 1, 2, 3, 4 and 5 years duration were calculated. Eighteen patients experienced adverse effects necessitating withdrawal of AZA (pancreatitis, n = 7; hepatitis, n = 3; gastrointestinal intolerance, n = 2; alopecia, n = 2; and hematological, n = 4) while 13 patients needed dose reduction or temporary withdrawal of the drug. CONCLUSION: Azathioprine is well tolerated and hastherapeutic benefi ts lasting as long as 4 years. Adverse effects such as pancreatitis, hepatitis, cytopenias and gastrointestinal symptoms do occur but are controlled by drug withdrawal only.

关键词：溃疡性结肠炎咪唑硫嘌呤免疫抑制剂免抑制疫力印度

Antimicrobial Activity of Acidified Sodium Chlorite and Cell Free Culture Supernatent of Lactic Acid Bacteria against <i>Salmonella</i>Typhimurium

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Journal of Biosciences and Medicines 2015年第11期3卷 128-135页

作者： Sangeeta Singh ajit Singh Yadav Priyanka Bharti Applied Science Department Indian Institute of Information Technology Allahabad India Food Microbiology Lab Post Harvest Technology Division Central Avian Research Institute Bareilly India

Most methods used by food industries to decontaminate eggs involve washing of egg surface with various chemicals. In this study, the effectiveness of two organic decontaminants viz., acidified sodium chlorite (ASC) and cell free culture supernatant (CFCS) of two lactic acid bacteria (Lactobacillus plantarum and Pediococcus cerevisiae) was evaluated for the decontamination of spiked Salmonella Typhimurium on chicken egg shell surface. Acidified sodium chlorite at 100 μl/L concentration with the contact time of 20 min completely inhibited S. Typhimurium on egg shell surface while at 50 μl/L concentration 1 - 2 log10 units reduction was observed in counts of S. Typhimurium as compared to control group. Likewise, CFCS of P. cerevisiae completely inhibited the growth of S. Typhimurium on 30 min contact, whereas L. plantarum and combination of both were revealed significant reduction in the counts of S. Typhimurium counts.

关键词： Acidified Sodium Chlorite Eggs Lactobacillus plantarum and Pediococcus cerevisiae and Salmonella Typhimurium

Interlaminar Fracture Toughness of Epoxy Glass Fiber Fly Ash Laminate Composite

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Materials Sciences and Applications 2014年第4期5卷 231-244页

作者： ajit Bhandakkar Niraj Kumar r. C. Prasad Shankar M. L. Sastry Department of Metallurgical Engineering and Materials Science Indian Institute of Technology Bombay Mumbai India Mechanical Aerospace and Structural Engineering Washington University in St. Louis Saint Louis USA

Epoxy glass fiber laminate composite (PMCs) are finding ever increasing applications in aerospace and automobile industries due to its high strength to weight ratio and resistance to aqueous environment. Additions of particulate reinforcements in the polymer matrix are reported to improve the Interlaminar Shear Strength and Interlaminar Fracture Toughness of the composites. In the present investigation, epoxy glass fiber laminate composites were processed using hand layup and vacuum bagging technique. The particulate reinforcement precipitator fly ash (25 - 45 μm) was added in the epoxy matrix by mechanical mixing up to 10 wt%. The effects of fly ash reinforcement on the mechanical properties and Interlaminar Fracture Toughness were studied before and after exposure to aqueous fog in a salt fog chamber at 45°C. In unexposed condition Mode I interlaminar fracture toughness of epoxy glass fiber laminate composite improved by the addition of fly ash reinforcement 10% (By weight) by 49.43% and when it was subjected to aqueous fog for 10 days the interlaminar fracture toughness improved 58.42%. Exposure to aqueous fog for 10 days causes plasticization of resin matrix and weakening of fiber/matrix interface results in improvement in interlaminar fracture toughness. The fracture surfaces were analyzed using scanning electron microscopy.

关键词： Interlaminar Fracture Toughness Epoxy Glass Fiber Laminate Composite Fly Ash

The Poset Cover Problem

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Open Journal of Discrete Mathematics 2013年第3期3卷 101-111页

作者： Lenwood S. Heath ajit Kumar Nema Core Quantative Strategies Goldman Sachs India Pvt. Ltd. Bangalore India Department of Computer Science Virginia Tech Blacksburg USA

A partial order or poset P=(X, on a (finite) base set X?determines the set L(P)?of linear extensions of P. The problem of computing, for a poset P, the cardinality of L(P)?is #P-complete. A set {P1,P2,...,Pk}?of posets on X?covers the set of linear orders that is the union of the L(Pi). Given linear orders L1,L2,...,Lm on X, the Poset Cover problem is to determine the smallest number of posets that cover {L1,L2,...,Lm}. Here, we show that the decision version of this problem is NP-complete. On the positive side, we explore the use of cover relations for finding posets that cover a set of linear orders and present a polynomial-time algorithm to find a partial poset cover.

关键词： Linear Orders Partial Orders NP-Completeness Algorithms

Identifying Semantic in High-Dimensional Web Data Using Latent Semantic Manifold

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Journal of Data Analysis and Information Processing 2015年第4期3卷 136-152页

作者： ajit Kumar Sanjeev Maskara I-Jen Chiang Goa Institute of Management Goa India The Practice PLC Buckinghamshire UK School of Management Taipei Medical University Taiwan Institute of Biomedical Engineering National Taiwan University Taiwan

Latent Semantic Analysis involves natural language processing techniques for analyzing relationships between a set of documents and the terms they contain, by producing a set of concepts (related to the documents and terms) called semantic topics. These semantic topics assist search engine users by providing leads to the more relevant document. We develope a novel algorithm called Latent Semantic Manifold (LSM) that can identify the semantic topics in the high-dimensional web data. The LSM algorithm is established upon the concepts of topology and probability. Asearch tool is also developed using the LSM algorithm. This search tool is deployed for two years at two sites in Taiwan: 1) Taipei Medical University Library, Taipei, and 2) Biomedical Engineering Laboratory, Institute of Biomedical Engineering, National Taiwan University, Taipei. We evaluate the effectiveness and efficiency of the LSM algorithm by comparing with other contemporary algorithms. The results show that the LSM algorithm outperforms compared with others. This algorithm can be used to enhance the functionality of currently available search engines.

关键词： Latent Semantic Manifold Conditional random Field Hidden Markov Model Graph-Based Tree-Width Decomposition

Giant benign mucinous cystadenoma: A case report

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Open Journal of Obstetrics and Gynecology 2012年第3期2卷 220-222页

作者： ajit Sebastian Anitha Thomas Annie regi Department of Obstetrics and Gynaecology Christian Medical College Vellore India

Giant benign tumours of the ovary are rare in the modern world due to the improved technologies and general awareness. They are known to cause pressure symptoms to the surrounding structures. Though they appear frighteningly large, they are amenable to surgical debulking with good results in survival and post operative recovery. Here we would like to present a case where the patient could not access medical care, which led to the presentation of a very large mucinous cystadenoma which responded remarkably to surgical excision. The patient could go back to her normal life following the procedure. Conclusions Giant benign mucinous tumours are a rarely seen in the modern world. They have excellent surgical results and survival rates.

关键词： Giant Benign Mucinous Cystadenomas