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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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Contrasting role of ASCC3 and ALKBH3 in determining genomic alterations in Glioblastoma Multiforme

Sriram et al. | Sep 27, 2022

Contrasting role of <i>ASCC3</i> and <i>ALKBH3</i> in determining genomic alterations in Glioblastoma Multiforme

Glioblastoma Multiforme (GBM) is the most malignant brain tumor with the highest fraction of genome alterations (FGA), manifesting poor disease-free status (DFS) and overall survival (OS). We explored The Cancer Genome Atlas (TCGA) and cBioportal public dataset- Firehose legacy GBM to study DNA repair genes Activating Signal Cointegrator 1 Complex Subunit 3 (ASCC3) and Alpha-Ketoglutarate-Dependent Dioxygenase AlkB Homolog 3 (ALKBH3). To test our hypothesis that these genes have correlations with FGA and can better determine prognosis and survival, we sorted the dataset to arrive at 254 patients. Analyzing using RStudio, both ASCC3 and ALKBH3 demonstrated hypomethylation in 82.3% and 61.8% of patients, respectively. Interestingly, low mRNA expression was observed in both these genes. We further conducted correlation tests between both methylation and mRNA expression of these genes with FGA. ASCC3 was found to be negatively correlated, while ALKBH3 was found to be positively correlated, potentially indicating contrasting dysregulation of these two genes. Prognostic analysis showed the following: ASCC3 hypomethylation is significant with DFS and high ASCC3 mRNA expression to be significant with OS, demonstrating ASCC3’s potential as disease prediction marker.

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Determining the Effects of Fibroblast Growth Factor 2 on the Regenerative Abilities of Echinometra lucunter Sea Urchins

Kisling et al. | Feb 12, 2019

Determining the Effects of Fibroblast Growth Factor 2 on the Regenerative Abilities of Echinometra lucunter Sea Urchins

As humans, not all our body organs can adequately regenerate after injury, an ability that declines with age. In some species, however, regeneration is a hallmark response that can occur limitless numbers of time throughout the life of an organism. Understanding how such species can regenerate so efficiently is of central importance to regenerative medicine. Sea urchins, unlike humans, can regenerate their spinal tissue after injury. Here the authors study the effect of a growth factor, FGF2, on sea urchin regeneration but find no conclusive evidence for a pro-regenerative effect after spinal tissue injury.

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Racial and gender disparities in the portrayal of lawyers and physicians on television

Asadi et al. | Nov 18, 2022

Racial and gender disparities in the portrayal of lawyers and physicians on television

Powered by the sociological framework that exposure to television bleeds into social biases, limiting media representation of women and minority groups may lead to real-world implications and manifestations of racial and gender disparities. To address this phenomenon, the researchers in this article take a look at primetime fictional representation of minorities and women as lawyers and physicians and compare television representation to census data of the same groups within real-world legal and medical occupations. The authors maintain the hypothesis that representation of female and minority groups as television lawyers and doctors is lower than that of their white male counterparts relative to population demographics - a trend that they expect to also be reflected in actual practice. With fictional racial and gender inequalities and corresponding real-world trends highlighted within this article, the researchers call for address towards representation biases that reinforce each other in both fictional and non-fictional spheres.

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