Trinucleotide repeats and neuropsychiatric disorders

Expansions of trinucleotide repeats at the level of genomic DNA are increasingly recognized as a cause of a number of neuropsychiatric disorders. Triplet repeat disorders are commonly classified into two groups, those with moderate CAG expansions that result in a polyglutamine stretch in the gene products and those with very long expansions, usually non-CAG, that are not translated. The triplet repeat intergeneration and intra-generational instability, and genetic anticipation characterize disorders. Most of the diseases caused by expanded CAG repeat share common features, which include neurodegeneration, a dominant pattern of inheritance and widespread expression of the gene products with neuronal loss restricted to distinct subset of neurons. Neurodegenerative changes associated of CAG expansion disorders is explained in terms of intra and extra cellular aggregation of mutant gene products, the insoluble nature of the protein(s) being attributed to the presence of polyglutamine stretches, hence their neurotoxic effects. methods based on poymerase chain reaction have become handy in the diagnosis of these genetic disorders. Progress in transgenic animal models for these disorders will be critical for understanding the progress of these disorders and for testing new therapeutic strategies.     

Global and regional cardiac function in lifelong endurance athletes with and without myocardial fibrosis

The aim of the present study was to compare cardiac structure as well as global and regional cardiac function in athletes with and without myocardial fibrosis (MF). Cardiac magnetic resonance imaging with late gadolinium enhancement was used to detect MF and global cardiac structure in nine lifelong veteran endurance athletes (58?±?5 years, 43?±?5 years of training). Transthoracic echocardiography using tissue-Doppler and myocardial strain imaging assessed global and regional (18 segments) longitudinal left ventricular function. MF was present in four athletes (range 1–8?g) and not present in five athletes. MF was located near the insertion points of the right ventricular free wall on the left ventricle in three athletes and in the epicardial lateral wall in one athlete. Athletes with MF demonstrated a larger end diastolic volume (205?±?24 vs 173?±?18?ml) and posterior wall thickness (11?±?1 vs 9?±?1?mm) compared to those without MF. The presence of MF did not mediate global tissue velocities or global longitudinal strain and strain rate; however, regional analysis of longitudinal strain demonstrated reduced function in some fibrotic regions. Furthermore, base to apex gradient was affected in three out of four athletes with MF. Lifelong veteran endurance athletes with MF demonstrate larger cardiac dimensions and normal global cardiac function. Fibrotic areas may demonstrate some co-localised regional cardiac dysfunction, evidenced by an affected cardiac strain and base to apex gradient. These data emphasize the heterogeneous phenotype of MF in athletes.     

An Integrated Approach of the Potential Underlying Molecular Mechanistic Paradigms of SARS-CoV-2-Mediated Coagulopathy

Coronavirus disease 2019 (Covid-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a pandemic disease which has affected more than 6.2 million people globally, with numbers mounting considerably daily. However, till date, no specific treatment modalities are available for Covid-19 and also not much information is known about this disease. Recent studies have revealed that SARS-CoV-2 infection is associated with the generation of thrombosis and coagulopathy. Fundamentally, it has been believed that a diverse array of signalling pathways might be responsible for the activation of coagulation cascade during SARS-CoV-2 infection. Henceforth, a detailed understanding of these probable underlying molecular mechanistic pathways causing thrombosis in Covid-19 disease deserves an urgent exploration. Therefore, in this review, the hypothetical crosstalk between distinct signalling pathways including apoptosis, inflammation, hypoxia and angiogenesis attributable for the commencement of thrombotic events during SARS-CoV-2 infection has been addressed which might further unravel promising therapeutic targets in Covid-19 disease.     

Programming skills: Visualization,interaction, home language and problem solving

Education and Information Technologies - As a novice, learning computer programming is challenging. It requires learners to be inquisitive and acquire skills to analyze problems to get to solutions...     

Niels Bohr and the atomic structure

Niels Bohr developed hismodel of the atomic structure in 1913 that succeeded in explaining the spectral features of hydrogen atom. In the process, he incorporated some non-classical features such as discrete energy levels for the bound electrons, and quantization of their angular momenta.     

Counting subspaces of a finite vector space — 1

This is the first of a two-part series where we discuss the relation between the Gaussian binomial and multinomial coefficients and ordinary binomial and multinomial coefficients from a combinatorial viewpoint, based on expositions by Knuth, Stanley and Butler.     

Expression of Telomere Binding Proteins (RAP1 and POT1) in Renal Cell Carcinoma and Their Correlation with Clinicopathological Parameters

Telomere stability is indispensable for continuous proliferation of cells. Telomere structure is maintained by group of six proteins termed as shelterin. RAP1 and POT1 proteins are significant members of shelterin complex. Expression of RAP1 and POT1 are crucial for telomere maintenance and hence uncontrolled division of cells. Notably, expression of RAP1 and POT1 is unknown in renal cell carcinoma (RCC). In view of these facts, the present study was initiated to investigate the expression of RAP1 and POT1 in RCC and their relationships with clinicopathological features. In total 65 histopathologically confirmed RCC cases and their adjacent normal renal parenchyma were analyzed for gene expression. The mRNA expression of telomere binding proteins RAP1 and POT1 were measured using RT-PCR. Expression of RAP1 was observed to be significantly increased in tumour tissues as compared to corresponding normal renal tissues (P = 0.004). The gene expression of RAP1 was documented to be related to grades of RCC (P = 0.002) and subtypes of RCC (P = 0.01). Although, POT1 expression was up-regulated in RCC tissue, however it was not statistically significant. Also, POT1 expression was not related to grades, stages and subtypes of RCC. This is the first study which shows correlation RAP1 with grades and subtypes of RCC.     

Comparative Study of Two ELISA Kits for Estimation of Antibodies to Hepatitis B Virus in Human Normal Immunoglobulin and Specific Immunoglobulin Intended for Intravenous or Intramuscular Use

Current study is conducted to evaluate method verification of two locally available kits manufactured by DSI & BIORAD for quantitative estimation of Hepatitis B virus antibodies in human normal immunoglobulin by using International standard of National Institute of Biological Standards and Control. Four analyst perform five sets of test in duplicate analysing accuracy, precision, and limit of detection, sensitivity and specificity. Our results suggest that both DSI and BIORAD kits fulfil the validation criteria and are sensitive to detect up to 10 mIU concentration precisely and accurately. DSI kit is more precise at concentration 100 mIU and economically 4–5 times cheaper in local market; on the other hand, BIORAD kits provide larger detection range up to 1000 mIU.