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The aim of this study is to evaluate the utility of an artificial neural network (ANN) model in diagnosing idiopathic generalized epilepsy (IGE) and to compare the results of the diagnostic model constructed by combining the expression levels of miR‐146a, miR‐155, and miR‐132 genes using ANN, random forest (RF), and discriminant analysis (DA). qRT‐PCR is employed to determine the expression levels of the three miRNA genes. Forty‐six IGE patients and 51 healthy controls were included in the study. Three genetic biomarkers were employed to assess the discriminative power of the disease, and they were combined using ANN. Additionally, the performance of ANN was compared with RF and DA. Compared to healthy controls, the miR‐132 gene was significantly higher (p < 0.001) and the miR‐155 and miR‐146a genes were significantly lower in IGE patients (p < 0.001). The area under the curve (AUC) for predictions made by the ANN, RF, and DA were 0.96, 0.87, and 0.75, respectively, with accuracy rates of 0.96, 0.88, and 0.76, respectively. We demonstrate that ANN exhibits the highest accuracy, AUC, sensitivity, and specificity values among the three methods. The obtained results indicate that the combination of the three genes used as markers in IGE plays a significant role in the diagnosis of the disease. Instead of assessing biomarkers individually for the disease, combining them using machine learning methods leads to improved model performance. Additionally, not relying on a single genetic biomarker for the disease enables discrimination based on the collective impact of all biomarkers. [ABSTRACT FROM AUTHOR]

KCNMA1 located on chromosome 10q22.3, encodes the pore-forming α subunit of the 'Big K+' (BK) large conductance calcium and voltage-activated K + channel. Numerous evidence suggests the functional BK channel alterations produced by different KCNMA1 alleles may associate with different symptoms, such as paroxysmal non kinesigenic dyskinesia with gain of function and ataxia with loss of function. Functional classifications revealed two major patterns, gain of function and loss of function effects on channel properties in different cell lines. In the literature, two mutations have been shown to confer gain of function properties to BK channels: D434G and N995S. In this study, we report the functional characterization of a variant which was previously reported the whole exome sequencing revealed bi-allelic nonsense variation of the cytoplasmic domain of calcium-activated potassium channel subunit alpha-1 protein. To detect functional consequences of the variation, we parallely conducted two independent approaches. One is immunostaining using and the other one is electrophysiological recording using patch-clamp on wild-type and R458X mutant cells to detect the differences between wild-type and the mutant cells. We detected the gain of function effect for the mutation (NM_001161352.1 (ENST00000286628.8):c.1372C > T;Arg458*) using two parallel approaches. According to the result we found, the reported mutation causes the loss of function in the cell. It should be noted that in future studies, it can be thought that the functions of genes associated with channelopathies may have a dual effect such as loss and gain. [ABSTRACT FROM AUTHOR]

Objective: Neuroinflammation and blood-brain barrier (BBB) dysfunction are key factors in various neurological disorders, disrupting brain tissue balance and leading to neuronal death. BBB integrity decline is evident in Alzheimer's Disease (AD), Parkinson's Disease (PD), Multiple Sclerosis (MS), and epilepsy. Materials and Methods: We measured levels of lipopolysaccharide (LPS), the largest endotoxin, and brain-derived neurotrophic factor (BDNF) in patients' blood plasma and correlated them with biochemical parameters to identify biomarkers for these diseases. Results: Significant associations were observed between LPS, C-reactive protein (CRP), BDNF, and lactate dehydrogenase (LDH) levels across conditions. LPS was positively correlated with CRP levels in epilepsy (r=0.753, p=0.002). Additionally, BDNF was negatively correlated with CRP in PD patients (r=-0.53, p=0.042). Moreover, a negative correlation was found between LPS and LDH in AD patients (r=-0.521, p=0.047). Conclusion: Our findings correspond to the etiology of neuroinflammation involved in the pathophysiology of relevant diseases and suggest the potential use of these biomarkers in the early diagnosis and monitoring of neurological diseases, guiding future research towards better patient outcomes and therapies. [ABSTRACT FROM AUTHOR]

Neurodegenerative diseases are defined by advanced neuronal loss and can occur in hereditary or sporadic forms. As is generally known, the most common neurodegenerative diseases are Alzheimer's disease (AD) and Parkinson's disease (PD). Among these, AD is defined by the accumulation of beta-amyloid plaques, hyper phosphorylation of tau proteins, and chronic inflammation leading to neuronal loss. PD is related to the degeneration of dopaminergic neurons in the substantia nigra. Because of the wide heterogeneity of neurodegenerative diseases, various difficulties are encountered in diagnosing disease subtypes and developing effective treatment approaches. In recent years, microRNAs (miRNAs) have become efficient genetic biomarkers for several diseases. miRNAs regulate gene expressions post-transcriptionally and thus play a role in numerous neuronal and non-neuronal cell functions. Prior investigations have indicated the expression of miRNAs to become altered under pathological conditions, thereby suggesting that they may play a role in neurodegenerative diseases. This review focuses on the function of miRNAs in neurodegeneration and the possible contribution of altered levels of miRNAs and their target mRNAs in AD and PD patients compared to the controls shown in the previous studies. In short, altered expressions of miRNAs may play a role as potential diagnostic biomarkers with regard to neurodegenerative diseases. [ABSTRACT FROM AUTHOR]

Due to binomial classification system defined by Carl von Linné, it has been shown that living things that were thought to be independent from each other are actually in a relationship. This "binomial classification" idea corresponds to a leap in the history of human thought. Carl von Linné's original idea is a product of the specific conditions of the period, particularly the renaissance and reform movements and geographical discoveries, rather than an idea he produced alone. These movements are part of a chain of ideas that stretches from antiquity to the Medieval and then to the period called the Enlightenment. The aforementioned transformations generally affected the scientist, albeit indirectly, even in geographies far from Sweden, where Carl von Linné spent most of his life. As such, the binomial classification system stands before us as a result of scientific breakthroughs in central Europe. In this study, it will be tried to be explained by taking the opus magnum of Carl von Linne as an example, taking into account the course of scientific developments, which we can attribute to the European civilization, and the philosophical and social texture. [ABSTRACT FROM AUTHOR]

Parathyroid cell transplantation is an effective approach for the treatment of permanent hypoparathyroidism. Intramuscular and intraperitoneal routes were performed previously but intravenous adminstration has not been conducted previous studies. Our aim is to determine proper homing site for parathyroid cells, therefore we administered parathyroid cells intravenously and observed results. This study is carried out on nine sheep. According to the given substance the sheep were divided into two groups; seven were parathyroid cell injected group and two were isotonic saline solution injected control group. Parathyroid cells were obtained from a patient with chronic kidney failure and were injected intravenously into sheep after cell isolation.: 20x106 cells for two animals, 50x106 cells for two animals, 100x106 cells for two animals, and 200x106 cells for one animal respectively, with no post injection immunosuppresive therapy. Immunosuppresion was not administered. Physical conditions of animals and blood biochemical tests were observed for three months. After sacrifications, kidneys and livers were evaluated histopathologically. In 20x106 and 50x106 cell transplanted groups serum PTH levels increased in the first seven days but in the other groups remained stable. Histopathological evaluations of kidneys and livers revealed fibrosis related to the number of infused cells, however biochemical functional differentiations were not detected. Intravenous parathyroid cell transplantation is considered as an effective and useful technique to perform without immunosuppression. However, further and long term studies need to have more acceptable results in future for clinical purpose. [ABSTRACT FROM AUTHOR]