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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
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
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
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 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
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
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
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
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
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
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
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 wi
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
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
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
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
Pathological nystagmus is a symptom of oculomotor disease where the eyes oscillate involuntarily. The underlying cause of the nystagmus and the characteristics of the oscillatory eye movements are patient specific. An important part of clinical assessment in nystagmus patients is therefore to characterise different recorded eye-tracking signals, i.e. waveforms. Approach. A method for characterisat
This report describes how the work has been conducted in the project “A National Strategy for Standardisation of Digital Information Management within the BuiltEnvironment” (further on denoted NSS). This report describes the project background, aim, objective, methodology, schedule, organisation, and identified areas and processes that have been the basis for the development of the initial three-y
