International Clinical Neuroscience Journal

Down syndrome (DS) is caused by complete or segmental chromosome 21 trisomy that results in neurodegeneration and progressive intellectual disability. Abnormal function in the prefrontal cortex, cerebellum, and hippocampus are the main reasons for cognitive deficits in DS that result in impaired cognitive function, delayed speech and language, learning and memory disability, and behavioral and emotional disorders. There is no specific treatment for DS, and our understanding of the mechanisms of the disorder is incomplete and causes to hamper the development of effective therapies regarding the development of neuropathology and memory loss in DS. Here, we review the literature on cognitive functioning, unique characteristics, environmental considerations, and recent findings on Alzheimer’s disease in DS.

Background: Juvenile neuronal ceroid lipofuscinosis (JNCL), one of the most frequent forms of the NCL storage diseases, is known to be caused by loss-of-function mutations in ceroid-lipofuscinosis neuronal protein 3 (CLN3), but its cell function has not been fully elucidated. We previously reported increased lysosomal pH in CLN3 deficient cells. In the present study, we analysed the consequences of this effect in the endo-lysosomal pathways in CLN3 cells.
Methods: The present study investigated different endo-lysosomal pathways in control, CLN2, CLN3 human skin fibroblasts under high and low proteolysis conditions. Cell surface biotinylation after EGF (2 ng/mL) stimulation, EGF phosphorylation (Tyr-845), retromer and cation-independent mannose-6-phosphate receptor (CI-MPR) levels and stability, EGF degradation pathways and cathepsin L and D levels were analysed by western blots. Caveolae mediated endocytosis was analysed by flow cytometry. CIMPR subcellular localization was ascertained by immunocytochemistry, confocal microscopy and further image analysis.
Results: Whereas caveolae-mediated endocytosis was not affected in CLN3 cells, clathrin-mediated epidermal growth factor (EGF) internalization was reduced, along with EGF receptor (EGFR) phosphorylation. In addition, cell surface EGFR levels and recycling to the cell membrane were increased. EGFR lysosomal degradation was impaired and our results suggest that the receptor was diverted to proteasomal degradation. We also analysed the machinery responsible for lysosomal hydrolase transport to the lysosome and found increased stability of CIMPR, a major receptor implicated in the transport of hydrolases. The subcellular distribution of the CI-MPR was also altered in CLN3 cells, since it accumulated within the Trans-Golgi network (TGN) and did not progress into the lysosomes. In addition, we found a reduced turnover of retromer subunits, a complex that retrieves the CI-MPR from endosomes to the TGN. Finally and as a possible consequence of these alterations in lysosomal enzyme transport, cathepsin L and D maturation were found suppressed in CLN3 cells.
Conclusion: Altogether, these results point to increased lisosomal pH as a pivotal event causing various alterations in intracellular traffic associated to the development of JNCL disease.

Background: The successful prediction of epileptic seizures will significantly improve the living conditions of patients with refractory epilepsy. A proper warning impending seizure system should be resulted not only in high accuracy and low false-positive alarms but also in suitable prediction time.
Methods: In this research, the mean phase coherence index used as a reliable indicator for identifying the preictal period of the 14-patient Freiburg EEG dataset. In order to predict the seizures on-line, an adaptive Neuro-fuzzy model named ENFM (evolving neuro-fuzzy model) was used to classify the extracted features. The ENFM trained by a new class labeling method based on the temporal properties of a prediction characterized by two time intervals, seizure prediction horizon (SPH), and seizure occurrence period (SOP), which subsequently applied in the evaluation method. It is evident that an increase in the duration of the SPH can be more useful for the subject in preventing the irreparable consequences of the seizure, and provides adequate time to deal with the seizure. Also, a reduction in duration of the SOP can reduce the patient’s stress in the SOP interval. In this study, the optimal SOP and SPH obtained for each patient using Mamdani fuzzy inference system considering sensitivity, false-positive rate (FPR), and the two mentioned points, which generally ignored in most studies.
Results: The results showed that last seizure, as well as 14-hour interictal period of each patient, were predicted on-line without false negative alarms: the average yielding of sensitivity by 100%, the average FPR by 0.13 per hour and the average prediction time by 30 minutes.
Conclusion: Based on the obtained results, such a data-labeling method for ENFM showed promising seizure prediction for online machine learning using epileptic seizure data. Apart from that, the proposed fuzzy system can consider as an evaluation method for comparing the results of studies.

Background: Parkinson’s disease (PD) is the third most common neurodegenerative disease in the central nervous system. It is a degenerative and slowly progressive disease. PD patients have difficulty at the beginning of the movement, at the path of movement, and at the end of the movement. PD consists of 5 main stages.
Methods: The purpose of this study was to diagnose PD type 1 and 2 on the electrical activity of shoulder muscle during isometric contraction with and without intellectual activity. In the same way, the electrical activity of the 2 right anterior deltoid muscles and the right upper trapezium by electromyographic apparatus in 4 conditions: (1) Resting, (2) Resting with intellectual activity, (3) performing an isometric movement in the hands, and (4) performing a movement Isometric in hand with an intellectual activity evaluated. The statistical population of the study consisted of 20 patients as experimental group (10 patients in the first stage and 10 patients in the second stage of PD) and ten healthy subjects as the control group as the statistical population. Shapiro-Wilk test was used to determine the normal distribution of data. Averages of variables were compared using the ANOVA test at a significant level of 5%. All statistical methods were performed using SPSS software.
Results: The results of this study showed that the electrical activity of the shoulder belt muscles is significantly different during and after the isometric contraction with and without mental activity in PD type I and II.
Conclusion: As a result, a non-invasive approach to assessing the electrical activity of shoulder muscle can be used to determine the first and second stages of PD. Research shows that PD is a chronic and progressive complication that most affects older people. Also, according to the results, Parkinson’s patients have weaker performance in cognitive functions than healthy people.

Background: Acromegaly defines as chronic elevations of insulin-like growth factor-1 (IGF-1) and growth hormone (GH), which results in enlargement of organs and soft tissues. Cardiovascular complications of acromegaly such as cardiomegaly, hypertension contributing to a high risk of cardiovascular events. This study aimed to identify the determinants of the prevalence of cardiomegaly as cardiovascular comorbidity of acromegaly and the potential effect of the curative intervention.
Methods: A total of 160 patients with acromegaly due to pituitary adenoma participated in this study. Acromegaly diagnosed was based on clinical manifestations, age-adjusted plasma IGF-I, and elevated plasma GH levels, not suppressible during an oral glucose tolerance test (75 g). Electrocardiogram and chest X-ray obtained in all patients. Treatment approaches included transsphenoidal surgery and hormonal evaluation performed before and six months after surgery.
Results: The GH serum level was elevated in all patients before surgery, with a mean of 33.7 ng/mL that reached 5.7 ng/mL after surgery. Mean IGF-1 was 794.1 ng/mL that reached 395.6 ng/mL postoperatively. The prevalence of cardiomegaly was 15% that improved in 5% of patients after trans sphenoidal surgery.
Conclusion: Appropriate surgical intervention in acromegaly that complicated by cardiomegaly may result in significant improvement of the cardiac structure.

Background: This study offers a robust framework for the classification of autonomic signals into five affective states during the picture viewing. To this end, the following emotion categories studied: five classes of the arousal-valence plane (5C), three classes of arousal (3A), and three categories of valence (3V). For the first time, the linguality information also incorporated into the recognition procedure. Precisely, the main objective of this paper was to present a fundamental approach for evaluating and classifying the emotions of monolingual and bilingual college students.
Methods: Utilizing the nonlinear dynamics, the recurrence quantification measures of the wavelet coefficients extracted. To optimize the feature space, different feature selection approaches, including generalized discriminant analysis (GDA), principal component analysis (PCA), kernel PCA, and linear discriminant analysis (LDA), were examined. Finally, considering linguality information, the classification was performed using a probabilistic neural network (PNN).
Results: Using LDA and the PNN, the highest recognition rates of 95.51%, 95.7%, and 95.98% were attained for the 5C, 3A, and 3V, respectively. Considering the linguality information, a further improvement of the classification rates accomplished.
Conclusion: The proposed methodology can provide a valuable tool for discriminating affective states in practical applications within the area of human-computer interfaces.

Background: Meta-cognitive skills training through giving meaning to information and making a logical connection between new and previously learned content, enables students to learn better and improve their academic performance. The present study was carried out to investigate the effectiveness of meta-cognitive skills training on the motivational structure and academic performance of drop-out students.
Methods: This study considered as semi-experimental research which has used the pretest-post-test with control group design. In this study, the statistical population included all drop-out male and female students of the Sari Agricultural Sciences and Natural Resources University (They entered the university in 2014 and considered as drop-out students for at least two years). Thirty students were selected using the purposive sampling method, who randomly divided into two groups of experimental (n=15) and control (n=15). Meta-cognitive skills taught to the experimental group within four sessions. The Motivational Structure Questionnaire (MSQ) and academic performance report card were used to collect data. Covariance analysis and SPSS-24 software used for data analysis.
Results: According to the results of covariance analysis, there is a significant difference between the experimental and control groups (P < 0.001). Therefore, it can conclude that meta-cognitive skills training a significant effect on the motivational structure and students’ academic performance.
Conclusion: Due to the results of this study, it is imperative that university officials pay attention to the effect of the meta-cognitive training program on the motivational structure and performance of drop-out students and provide the proper context for relevant skills training in the counseling department, the department of social affairs and educational field.

Lumbar epidural anesthesia commonly used to control post-operation pain. The ‘loss-of- resistance’ to air technique (LORA) generally engaged in the appreciation of the epidural space. One of the rare but serious side effects of this technique is pneumocephalus. We report a case of sudden frontal and parietal headache after a dural puncture during the performance of epidural analgesia using the LOR to air technique.