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Association of agenesis of the corpus callosum with epilepsy and anticonvulsant drug treatment

Steger et al. | Feb 21, 2023

Association of agenesis of the corpus callosum with epilepsy and anticonvulsant drug treatment
Image credit: Robina Weermeijer on Unsplash

Agenesis of the Corpus Callosum (ACC) is a birth defect where an infant’s corpus callosum, the structure linking the brain’s two hemispheres to allow interhemispheric communication, fails to develop in a typical manner during pregnancy. Existing research on the connection between ACC and epilepsy leaves significant gaps, due to the lack of focused investigation. One important gap is the degree to which ACC may impact the course of epilepsy treatment and outcomes. The present study was conducted to test the hypotheses that epilepsy is highly prevalent among individuals with ACC, and that those with both ACC and epilepsy have a lower response rate to anticonvulsant drugs than other patients treated with anticonvulsant drugs. A weighted average of epilepsy rates was calculated from a review of existing literature, which supported the hypothesis that epilepsy was more common among individuals with ACC (25.11%) than in the general population (1.2%). An empirical survey administered to 57 subjects or parents of subjects showed that rate of intractable epilepsy among study subjects with both ACC and epilepsy was substantially higher than the rate found in the general population, indicating that individuals with both conditions had a lower response rate to the anticonvulsant drugs. This study contributes novel results regarding the potential for concurrence of ACC and epilepsy to interfere with anticonvulsant drug treatment. We also discuss implications for how medical professionals may use the findings of this study to add depth to their treatment decisions.

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The novel function of PMS2 mutation on ovarian cancer proliferation

Cho et al. | Dec 18, 2022

The novel function of <em>PMS2</em> mutation on ovarian cancer proliferation

With disruption of DNA repair pathways pertinent to the timeline of cancer, thorough evaluation of mutations relevant to DNA repair proteins is crucial within cancer research. One such mutation includes S815L PMS2 - a mutation that results in significant decrease of DNA repair function by PMS2 protein. While mutation of PMS2 is associated with significantly increased colorectal and endometrial cancer risk, much work is left to do to establish the functional effects of the S815L PMS2 mutation in ovarian cancer progression. In this article, researchers contribute to this essential area of research by uncovering the tumor-progressive effects of the S815L PMS2 mutation in the context of ovarian cancer cell lines.

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Survival of Escherichia coli K-12 in various types of drinking water

Hanna et al. | Sep 25, 2022

Survival of <i>Escherichia coli</i> K-12 in various types of drinking water

For public health, drinking water should be free of bacterial contamination. The objective of this research is to identify the fate of bacteria if drinking water becomes contaminated and inform consumers on which water type enables the least bacteria to survive. We hypothesized that bottled mineral water would provide the most sufficient conditions for E. coli to survive. We found that if water becomes contaminated, the conditions offered by the three water types at room temperature allow E. coli to survive up to three days. At 72 hours, the bottled spring water had the highest average colony forming units (CFUs), with tap and mineral water CFU values statistically lower than spring water but not significantly different from each other. The findings of this research highlight the need of implementing accessible quality drinking water for the underserved population and for the regulation of water sources.

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Investigation of unknown causes of uveal melanoma uncovers seven recurrent genetic mutations

Nanda et al. | Aug 25, 2022

Investigation of unknown causes of uveal melanoma uncovers seven recurrent genetic mutations

Uveal melanoma (UM) is a rare subtype of melanoma but the most frequent primary cancer of the eye in adults. The goal of this study was to research the genetic causes of UM through a comprehensive frequency analysis of base-pair mismatches in patient genomes. Results showed a total of 130 genetic mutations, including seven recurrent mutations, with most mutations occurring in chromosomes 3 and X. Recurrent mutations varied from 8.7% to 17.39% occurrence in the UM patient sample, with all mutations identified as missense. These findings suggest that UM is a recessive heterogeneous disease with selective homozygous mutations. Notably, this study has potential wider significance because the seven genes targeted by recurrent mutations are also involved in other cancers.

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Effects of caffeine on muscle signals measured with sEMG signals

Park et al. | Jun 20, 2022

Effects of caffeine on muscle signals measured with sEMG signals

Here, the authors used surface electromyography to measure the effects of caffeine intake on the resting activity of muscles. They found a significant increase in the measured amplitude suggesting that caffeine intake increased the number of activated muscle fibers during rest. While previous research has focused on caffeine's effect on the contraction signals of muscles, this research suggests that its effects extend to even when a muscle is at rest.

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How does light affect the distribution of Euglena sp. and Tetrahymena pyriformis

Singh et al. | Mar 03, 2022

How does light affect the distribution of <em>Euglena sp.</em> and <em>Tetrahymena pyriformis</em>

In this article, the authors explored the locomotory movement of Euglena sp. and Tetrahymena pyriformis in response to light. Such research bears relevance to the migration and distribution patterns of both T. pyriformis and Euglena as they differ in their method of finding sustenance in their native environments. With little previous research done on the exploration of a potential response to photostimulation enacted by T. pyriformis, the authors found that T. pyriformis do not bias in distribution towards areas of light - unlike Euglena, which displayed an increased prevalence in areas of light.

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Impact of Population Density and Elevation on Tuberculosis Spread and Transmission in Maharashtra, India

Rao et al. | Nov 07, 2021

Impact of Population Density and Elevation on Tuberculosis Spread and Transmission in Maharashtra, India

India accounts for over 2.4 million recorded cases of tuberculosis, about 26% of the world’s cases. This research ascertained the bearing of both the population density and the average elevation above mean sea level (MSL) on the number of cases of TB recorded by the districts in Maharashtra, India. The results found a strong positive correlation between the number of TB cases per thousand people and the population density and a strong negative correlation between the number of TB cases per thousand people and the average elevation above MSL.

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Motion tracking and analysis of spray water droplets studied by high-speed photography using an iPhone X

Geng et al. | Sep 11, 2021

Motion tracking and analysis of spray water droplets  studied by high-speed photography using an iPhone X

Smartphones are not only becoming an inseparable part of our daily lives, but also a low-cost, powerful optical imaging tool for more and more scientific research applications. In this work, smartphones were used as a low-cost, high-speed, photographic alternative to expensive equipment, such as those typically found in scientific research labs, to accurately perform motion tracking and analysis of fast-moving objects. By analyzing consecutive images, the speed and flight trajectory of water droplets in the air were obtained, thereby enabling us to estimate the area of the water droplets landing on the ground.

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The Role of a Mask - Understanding the Performance of Deep Neural Networks to Detect, Segment, and Extract Cellular Nuclei from Microscopy Images

Dasgupta et al. | Jul 06, 2021

The Role of a Mask - Understanding the Performance of Deep Neural Networks to Detect, Segment, and Extract Cellular Nuclei from Microscopy Images

Cell segmentation is the task of identifying cell nuclei instances in fluorescence microscopy images. The goal of this paper is to benchmark the performance of representative deep learning techniques for cell nuclei segmentation using standard datasets and common evaluation criteria. This research establishes an important baseline for cell nuclei segmentation, enabling researchers to continually refine and deploy neural models for real-world clinical applications.

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