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Mitochondrial complex I and V gene polymorphisms associated with breast cancer in mizo-mongloid population

BackgroundMizoram has the highest incidence of cancer in India. Among women, breast cancer is most prevalent and the state occupies fifth position globally. The reason for high rate of cancer in this region is still not known but it may be related to ethnic/racial variations or lifestyle factors.MethodsThe present study aims to identify the candidate mitochondrial DNA (mtDNA) biomarkers—ND1and ATP

Association of DNA repair and xenobiotic pathway gene polymorphisms with genetic susceptibility to gastric cancer patients in West Bengal, India

Gastric cancer is one of the most common malignancies in India. DNA repair gene or xenobiotic pathway gene polymorphisms have recently been shown to affect individual susceptibility to gastric cancer. Here, the possible interaction between common polymorphisms in X-ray repair cross complementing group I (XRCC1) gene and glutathione S-transferase (GST) genes (GSTM1, GSTT1 and GSTP1), smoking and al

Xenobiotic Pathway Gene Polymorphisms Associated with Gastric Cancer in High Risk Mizo-Mongoloid Population, Northeast India

Background: The aim of this study was to evaluate the risk of gastric cancer associated with individual or combined glutathione S-transferases (GSTs) polymorphism and their interaction with environmental factors. Materials and Methods: Genotyping by PCR was carried out for 80 cases and controls each for GSTM1, GSTT1, and GSTP1 polymorphism and mapped for gene—environment association studies. The s

Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE

Background: Hereditary thrombocytopenias constitute a genetically heterogeneouscause of increased bleeding. We report a case of a 17-year-old boy suffering fromsevere macrothrombocytopenia throughout his life. Whole genome sequencing revealed the presence of two compound heterozygous variants in GNE encoding the enzyme UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, crucial for si

Interval breast cancer rates for digital breast tomosynthesis versus digital mammography population screening : An individual participant data meta-analysis

Background: Digital breast tomosynthesis (DBT) improves breast cancer (BC) detection compared to mammography, however, it is unknown whether this reduces interval cancer rate (ICR) at follow-up. Methods: Using individual participant data (IPD) from DBT screening studies (identified via periodic literature searches July 2016 to November 2019) we performed an IPD meta-analysis. We estimated ICR for

Polymorphisms in ADH1B and ALDH2 genes associated with the increased risk of gastric cancer in West Bengal, India

BACKGROUND: Gastric cancer (GC) is one of the most frequently diagnosed digestive tract cancers and carries a high risk of mortality. Acetaldehyde (AA), a carcinogenic intermediate of ethanol metabolism contributes to the risk of GC. The accumulation of AA largely depends on the activity of the major metabolic enzymes, alcohol dehydrogenase and aldehyde dehydrogenase encoded by the ADH (ADH1 gene

Novel APC gene mutations associated with protein alteration in diffuse type gastric cancer

BACKGROUND: The role of adenomatous polyposis coli (APC) gene in mitosis might be critical for regulation of genomic stability and chromosome segregation. APC gene mutations have been associated to have a role in colon cancer and since gastric and colon tumors share some common genetic lesions, it is relevant to investigate the role of APC tumor suppressor gene in gastric cancer.METHODS: We invest

Mitochondrial D-loop and cytochrome oxidase C subunit I polymorphisms among the breast cancer patients of Mizoram, Northeast India

Mitochondrial DNA (mtDNA) is known for its high frequencies of polymorphisms and mutations as it is prone to oxidative stress. The aim of the present study is to assess the novel mutations in mitochondrial genes from blood samples among the breast cancer patients from a less studied Northeast Indian population. D, B, L haplogroups were observed in the cancer samples and a total of 44 mtDNA D-loop

Polymorphism in mtDNA control region of Mizo-Mongloid Breast Cancer samples as revealed by PCR-RFLP analysis

Mutations in mitochondrial D-loop region of DNA (mtDNA) may serve as a potential sensor for cellular DNA damage and marker for cancer development. We investigated the restriction fragment length polymorphism (RFLP) pattern of the D-loop region in the blood samples of breast cancer patients among Mizoram population. Significant differences were observed among breast cancer and healthy blood samples

Multialphabet coding with separate alphabet description

For lossless universal source coding of memoryless sequences with an a priori unknown alphabet size (multialphabet coding), the alphabet of the sequence must be described as well as the sequence itself. Usually an efficient description of the alphabet can be made only by taking into account some additional information. We show that these descriptions can be separated in such a way that the encodin

Novel somatic mutations of the cdh1 gene associated with gastric cancer : Prediction of pathogenicity using comprehensive in silico methods

Background: Mutations in the CDH1 and the role of E-cadherin proteins are well established in gastric cancer. Several in silico tools are available to predict the pathogenicity of the mutations present in the genes with varying efficiency and sensitivity to detect the pathogenicity of the mutations. Objective: Our objective was to identify somatic pathogenic variants in CDH1 involved in Gastric Ca

Direct Approach or Detour : A Comparative Model of Inhibition and Neural Ensemble Size in Behavior Selection

Organisms must cope with different risk/reward landscapes in their ecological niche. Hence, species have evolved behavior and cognitive processes to optimally balance approach and avoidance. Navigation through space, including taking detours, appears also to be an essential element of consciousness. Such processes allow organisms to negotiate predation risk and natural geometry that obstruct forag

Towards understanding and improving escape probabilities in PPM

The choice of expressions for the coding probabilities in general, and the escape probability in particular, is of great importance in the family of PPM algorithms. We present a parameterized version of the escape probability estimator which, together with a 'compactness' criterion, provides guidelines for the estimator design given a 'representative' set of files. This parameterization also makes

Feminized Ethics of Care and Everyday Crises: Gendered Morality, Family, and Labor in Industrializing Vietnam

Industrialization and globalization processes in Vietnam have resulted in increased marketization of care, which is imbued with ideological goals that capitalize upon and invigorate gendered morality. Morality thus provides a helpful analytical entry for my exploration of the ways in which feminized ethics of care is informed by moral codes and values for appreciated and condemned behavior in wome

The Desire to Disappear in Order Not to Disappear: Cairene Ex-Prisoners after the 25 January Revolution

This article tells a story of the aftermath of the ‘failed revolution’ in Egypt through the prism of sound and gendered political prisoner bodies. It created embodied re-actions among Cairene men—years after their lived prison experiences—in which depression, sorrow, stress, paranoia, rage, or painful body memories are prevalent. Affect theory shows how sonic vibrations—important stimuli within ev

Making and unmaking masculinities in Cairo through sonic infrastructural violence

This article explores the Egyptian state’s production of desired manhood and destruction of unwanted masculinities in relation to home and displacement through audio-focused analysis and a focus on sonic infrastructures. While sonic infrastructures can be used as a form of political control and violence, my work in Egypt also shows how people, through sound and sonic resistance, navigate and shape

The Affects of Change: An Ethnography of the Affective Experiences of the 2013 Military Intervention in Egypt

In this chapter the author discusses the difficulties of exploring the ethnography of events as they are happening, especially when they are violent, not least due to the lack of reliable information available and the complex process of interpreting transmissions of affect. The epistemological turn away from language—in which the focus on affect has emerged as a critique of post-structuralism’s in

Elimination of Ribosome Inactivating Factors Improves the Efficiency of Bacillus subtilis and Saccharomyces cerevisiae Cell-Free Translation Systems

Cell-free translation systems based on cellular lysates optimized for in vitro protein synthesis have multiple applications both in basic and applied science, ranging from studies of translational regulation to cell-free production of proteins and ribosome-nascent chain complexes. In order to achieve both high activity and reproducibility in a translation system, it is essential that the ribosomes

Impact of genetic risk score on the association between male childlessness and cardiovascular disease and mortality

Childless men are reported to have a higher risk of cardiovascular disease (CVD) and mortality. Information on inherited genetic risk for CVD has improved the predictive models. Presuming that childlessness is a proxy of infertility we aimed to investigate if childless men inherit more often genetic traits for CVD and if combining genetic and parenthood information improves predictive models for C