Expandable DNA repeat and human hereditary disorders

Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause and molecular mechanisms of repeat expansions DNA and their pathogenic mechanisms in diverse classes of genetic diseases. Methods: Scientific databases were searched using the keywords expandable DNA repeat fragile X, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. After primary screening, articles which were related to the studies topic were further considered and analyzed. Results: DNA repeats seem to be predisposed to such expansion due to their unusual structural features, which disrupt the cellular replication, repair, and recombination processes. The majority of these debilitating diseases are caused by repeat expansions in the noncoding regions of their resident genes. The pathogenic mechanism underling these disorders include loss of function in protein and gain of function in protein or ribonucleic acid (RNA). Conclusion: Although diseases caused by trinucleotide repeat expansion vary in their phenotypes, they are somewhat similar in their pathogenic mechanism and medical findings. It is likely that progress made in this field will be beneficial to patients who have other neurological diseases. © 2016, Kerman University of Medical Sciences. All rights reserved

From language to language-ish: How brain-like is an LSTM representation of nonsensical language stimuli?

The representations generated by many mod- els of language (word embeddings, recurrent neural networks and transformers) correlate to brain activity recorded while people read. However, these decoding results are usually based on the brain’s reaction to syntactically and semantically sound language stimuli. In this study, we asked: how does an LSTM (long short term memory) language model, trained (by and large) on semantically and syntac- tically intact language, represent a language sample with degraded semantic or syntactic information? Does the LSTM representation still resemble the brain’s reaction? We found that, even for some kinds of nonsensical lan- guage, there is a statistically significant rela- tionship between the brain’s activity and the representations of an LSTM. This indicates that, at least in some instances, LSTMs and the human brain handle nonsensical data similarly

Investigating the Effect of Nudges on Consumers’ Willingness to Pay for Genetically Modified Corn Oil

Shifting from conventional methods of food production to genetic modification methods benefits sustainable agri-food production and environmental preservation. However, one of the main problems genetically modified food manufacturers have ever had to deal with is the public acceptability of GM foods. This study has two major objectives. First, it intends to apply principles from behavioral economics to investigate how consumers’ willingness to pay for GM corn oil can be affected. For this purpose, two different nudges are tested by providing consumers with positive information regarding GMO and changing the wording of the GMO label. Then, a comparison between the effectiveness of each of them is provided. Second, it investigates the impact of trust in GM food institutions, GMO information, and perceived GMO risk on both WTP for GM edible oil and the effectiveness of each nudge. A between-subjects choice experiment with a sample size of 550 Iranian corn oil consumers was conducted in Mashhad from March to April 2021. The results of mixed logit models indicate that both nudges affected consumer valuation of GM corn oil significantly, while their effectiveness differed according to the consumer level of trust in the GM food institutions and the perceived risk of GMO. Increasing consumer trust and information raises the WTP for GM corn oil; however, perceived risk has no effect. This study introduces effortless tools that GM food manufacturers can consider in their marketing strategies to affect consumers in the desired way

Hormone Receptor Status in Breast Cancer and its Relation to Age and Other Prognostic Factors

Background Increasing evidence shows the importance of young age, estrogen receptor (ER), progesterone receptor (PR) status, and HER-2 expression in patients with breast cancers. Patients and methods We organized an analytic cross-sectional study of 105 women diagnosed with breast cancer who have been operated on between 2008 to 2010. We evaluated age, size, hormone receptor status, HER-2 and P53 expression as possible indicator of lymph node involvement. Results There is a direct correlation between positive progesterone receptor status and being younger than 40 ( P < 0.05). Also, compared with older women, young women had tumors that were more likely to be large in size and have higher stages ( P < 0.05). Furthermore patients with negative progesterone receptor status were more likely to have HER-2 overexpression ( P < 0.05). The differences in propensity to lymph node metastasis between hormone receptor statuses were not statically significant. Conclusions Although negative progesterone receptor tumors were more likely to have HER-2 overexpression, it is possible that higher stage and larger size breast cancer in younger women is related to positive progesterone receptor status

Value signals guide abstraction during learning

The human brain excels at constructing and using abstractions, such as rules, or concepts. Here, in two fMRI experiments, we demonstrate a mechanism of abstraction built upon the valuation of sensory features. Human volunteers learned novel association rules based on simple visual features. Reinforcement-learning algorithms revealed that, with learning, high-value abstract representations increasingly guided participant behaviour, resulting in better choices and higher subjective confidence. We also found that the brain area computing value signals – the ventromedial prefrontal cortex – prioritised and selected latent task elements during abstraction, both locally and through its connection to the visual cortex. Such a coding scheme predicts a causal role for valuation. Hence, in a second experiment, we used multivoxel neural reinforcement to test for the causality of feature valuation in the sensory cortex, as a mechanism of abstraction. Tagging the neural representation of a task feature with rewards evoked abstraction-based decisions. Together, these findings provide a novel interpretation of value as a goal-dependent, key factor in forging abstract representations

Progress of Education, Research and Services in Medical Genetics, in Some Institutions of Iran

The present paper is a review of progress and major activities in education, research, services and ethics in the field of medical genetics in some centers in Iran. National projects of population genetics, genetic epidemiology, like national human genome projects, Connexin 26 and Pejvakin, distribution of thalassemia, hemophilia, etc in different ethnic groups, and religious minorities of Iran, are mentioned