Search results for: mitochondrial disorders

Authors: Y. Z. Gad

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Disorders of Sex Development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. The DSD are relatively prevalent in Egypt. In spite of that, the relative rarity of the individual disease types or their molecular pathologies frequently resulted in reporting on single or few cases. This augmented the challenging nature of phenotype-genotype correlation in this disease group and its utilization in the management of such medical emergency. Through critical assessment of the published DSD reports, the current review aims at analyzing the clinical characteristics of the various DSD forms in relation to the underlying molecular pathologies. A systematic literature search was done in Pubmed, using relevant keywords (Egypt versus DSD, genital ambiguity or ambiguous genitalia, the old terms of 'intersex, hermaphroditism and pseudohermaphroditism', and a list of the DSD entities and their related genes). The search yielded 24 reports of molecular data in Egyptian patients presenting with ambiguous genitalia. However, only 21 publications fulfilled the criteria of inclusion of detailed clinical descriptions and definitive molecular diagnoses of individual patients. Curation of the data yielded a total of 53 cases that were ascertained from 40 families. Fifty-one patients present with ambiguous genitalia only while 2 had multiple congenital anomalies. Parental consanguinity was noted in 60% of cases. Sex of rearing at initial presentation was female in 75% and 60% in 46,XY and 46,XX DSD cases, respectively. The external genital phenotype in 2/3 of the 46,XY DSD cases showed moderate undermasculinization [Quigley scores 3 & 4] and 1/3 had severe presentations [scores 5 & 6]. For 46,XX subjects, 1 had severe virilization of the external genitalia while 8 had moderate phenotype. Hormonal data were inconclusive or contradictory to final diagnosis in a forth of cases. Collectively, 31 families [31/40, 77.5%] with 46,XY DSD had molecular defects in the genes, 5 alpha reductase 2 (SRD5A2) [12/31], 17 beta-hydroxysteroid dehydrogenase 3 [8/31], androgen receptor [7/31], Steroidogenic factor 1 [2/31], luteinizing hormone receptor [1/31], and fibroblast growth factor receptor 1 [1/31]. In a multiethnic study, 9 families afflicted with 46,XX DSD due to 11 beta hydroxylase (CYP11B1) deficiency were documented. Two recurrent mutations, G34R and N160D, in SRD5A2 were present, respectively, in 42 and 17% of cases. Similarly, 4 recurrent mutations resulted in 89% of the CYP11B1 presentations. In conclusion, this analysis highlights the importance of autosomal recessive inheritance and inbreeding among DSD presentations, the importance of founder effect in at least 2 disorders, the difficulties in relating the genotype with the indeterminate genital phenotype, the under-reporting of some DSD subtypes, and the notion that the reported mutational profiles among Egyptian DSD cases are relatively different from those reported in other ethnic groups.

Keywords: disorders of sex development, genital ambiguity, mutation, molecular diagnosis, Egypt

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Authors: Emily Wood, James K. Westphal, Itamar Lerner

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Background: Polysomnography (PSG) recordings are regularly used in research and clinical settings to study sleep and sleep-related disorders. Typical PSG studies are conducted in professional laboratories and performed by qualified researchers. However, the number of sleep labs worldwide is disproportionate to the increasing number of individuals with sleep disorders like sleep apnea and insomnia. Consequently, there is a growing need to supply cheaper yet reliable means to measure sleep, preferably autonomously by subjects in their own home. Over the last decade, a variety of devices for self-monitoring of sleep became available in the market; however, very few have been directly validated against PSG to demonstrate their ability to perform reliable automatic sleep scoring. Two popular mobile EEG-based systems that have published validation results, the DREEM 3 headband and the Z-Machine, have never been directly compared one to the other by independent researchers. The current study aimed to compare the performance of DREEM 3 and the Z-Machine to help investigators and clinicians decide which of these devices may be more suitable for their studies. Methods: 26 participants have completed the study for credit or monetary compensation. Exclusion criteria included any history of sleep, neurological or psychiatric disorders. Eligible participants arrived at the lab in the afternoon and received the two devices. They then spent two consecutive nights monitoring their sleep at home. Participants were also asked to keep a sleep log, indicating the time they fell asleep, woke up, and the number of awakenings occurring during the night. Data from both devices, including detailed sleep hypnograms in 30-second epochs (differentiating Wake, combined N1/N2, N3; and Rapid Eye Movement sleep), were extracted and aligned upon retrieval. For analysis, the number of awakenings each night was defined as four or more consecutive wake epochs between sleep onset and termination. Total sleep time (TST) and the number of awakenings were compared to subjects’ sleep logs to measure consistency with the subjective reports. In addition, the sleep scores from each device were compared epoch-by-epoch to calculate the agreement between the two devices using Cohen’s Kappa. All analysis was performed using Matlab 2021b and SPSS 27. Results/Conclusion: Subjects consistently reported longer times spent asleep than the time reported by each device (M= 448 minutes for sleep logs compared to M= 406 and M= 345 minutes for the DREEM and Z-Machine, respectively; both ps<0.05). Linear correlations between the sleep log and each device were higher for the DREEM than the Z-Machine for both TST and the number of awakenings, and, likewise, the mean absolute bias between the sleep logs and each device was higher for the Z-Machine for both TST (p<0.001) and awakenings (p<0.04). There was some indication that these effects were stronger for the second night compared to the first night. Epoch-by-epoch comparisons showed that the main discrepancies between the devices were for detecting N2 and REM sleep, while N3 had a high agreement. Overall, the DREEM headband seems superior for reliably scoring sleep at home.

Keywords: DREEM, EEG, seep monitoring, Z-machine

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Authors: Chia-Jung Li, Kuan-Hao Tsui

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As women age, the quality of their oocytes deteriorates irreversibly, leading to reduced fertility. To better understand the role of Ferroptosis-related genes in ovarian aging, we employed a multi-omics analysis approach, including spatial transcriptomics, single-cell RNA sequencing, human ovarian pathology, and clinical biopsies. Our study identified excess lipid peroxide accumulation in aging germ cells, metal ion accumulation via oxidative reduction, and the interaction between ferroptosis and cellular energy metabolism. We used multi-histological prediction of ferroptosis key genes to evaluate 75 patients with ovarian aging insufficiency and then analyzed changes in hub genes after supplementing with DHEA, Ubiquinol CoQ10, and Cleo-20 T3 for two months. Our results demonstrated a significant increase in TFRC, GPX4, NCOA4, and SLC3A2, which were consistent with our multi-component prediction. We theorized that these supplements increase the mitochondrial tricarboxylic acid cycle (TCA) or electron transport chain (ETC), thereby increasing antioxidant enzyme GPX4 levels and reducing lipid peroxide accumulation and ferroptosis. Overall, our findings suggest that supplementation intervention significantly improves IVF outcomes in senescent cells by enhancing metal ion and energy metabolism and enhancing oocyte quality in aging women.

Keywords: multi-omics, nutrients, ferroptosis, ovarian aging

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Authors: Eva Masson, Andrea Kübler

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Anxiety disorders (AD) are the most prevalent psychological disorders. However, far from most affected individuals are diagnosed and receive treatment. This gap is probably due to the diagnosis criteria, relying on symptoms (according to the DSM-5 definition) with no objective biomarker. Approach-avoidance conflict tasks are one common approach to simulate such disorders in a lab setting, with most of the paradigms focusing on the relationships between behavior and neurophysiology. Approach-avoidance conflict tasks typically place participants in a situation where they have to make a decision that leads to both positive and negative outcomes, thereby sending conflicting signals that trigger the Behavioral Inhibition System (BIS). Furthermore, behavioral validation of such paradigms adds credibility to the tasks – with overt conflict behavior, it is safer to assume that the task actually induced a conflict. Some of those tasks have linked asymmetrical frontal brain activity to induced conflicts and the BIS. However, there is currently no consensus for the direction of the frontal activation. The authors present here a modified version of the T-Maze paradigm, a motivational conflict desktop task, in which behavior is recorded simultaneously to the recording of high-density EEG (HD-EEG). Methods: In this within-subject design, HD-EEG and behavior of 35 healthy participants was recorded. EEG data was collected with a 128 channels sponge-based system. The motivational conflict desktop task consisted of three blocks of repeated trials. Each block was designed to record a slightly different behavioral pattern, to increase the chances of eliciting conflict. This variety of behavioral patterns was however similar enough to allow comparison of the number of trials categorized as ‘overt conflict’ between the blocks. Results: Overt conflict behavior was exhibited in all blocks, but always for under 10% of the trials, in average, in each block. However, changing the order of the paradigms successfully introduced a ‘reset’ of the conflict process, therefore providing more trials for analysis. As for the EEG correlates, the authors expect a different pattern for trials categorized as conflict, compared to the other ones. More specifically, we expect an elevated alpha frequency power in the left frontal electrodes at around 200ms post-cueing, compared to the right one (relative higher right frontal activity), followed by an inversion around 600ms later. Conclusion: With this comprehensive approach of a psychological mechanism, new evidence would be brought to the frontal asymmetry discussion, and its relationship with the BIS. Furthermore, with the present task focusing on a very particular type of motivational approach-avoidance conflict, it would open the door to further variations of the paradigm to introduce different kinds of conflicts involved in AD. Even though its application as a potential biomarker sounds difficult, because of the individual reliability of both the task and peak frequency in the alpha range, we hope to open the discussion for task robustness for neuromodulation and neurofeedback future applications.

Keywords: anxiety, approach-avoidance conflict, behavioral inhibition system, EEG

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Authors: Henry Venter, Murali Thyloth, Alceu Casseb

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Historically, mental and substance use disorders were not a global health priority. Since the 1993 World Development Report, the importance of the contribution of mental health and substance abuse on the relative global burden associated with disease morbidity has been recognized with 300 million people worldwide suffering from depression alone. This led to an international effort to improve the mental health of populations around the world. Despite these efforts some countries remain at the top of the list of countries with the highest rate of mental illness. Important research questions were asked: Would there be commonalities regarding mental health between these countries; would there be common factors leading to the high prevalence of mental illness; and how prepared are these countries with mental health delivery? Findings from this research can aid organizations and institutions preparing mental health service providers to focus training and preparation to address specific needs revealed by the study. Methods: Researchers decided to compare three distinctly different countries at the top of the list of countries with the highest rate of mental illness, the USA, India and Brazil, situated on three different continents with different economies and lifestyles. Data were collected using archival research methodology, reviewing records and findings of international and national health and mental health studies to subtract and compare data and findings. Results: The findings indicated that India is the most depressed country in the world, followed by the USA (and China) with Brazil in Latin America with the greatest number of depressed individuals. By 2020 roughly 20% of India, acountry of over one billion citizens, will suffer from some form of mental illnees, yet there are less than 4,000 experts available. In the USA 164.8 million people were substance abusers and an estimate of 47.6 million adults, 18 or older, had any mental illness in 2018. That means that about one in five adults in the USA experiences some form of mental illness each year, but only 41% of those affected received mental health care or services in the past year. Brazil has the greatest number of depressed individuals, in Latin America. Adults living in Sao Paulo megacity has prevalence of mental disorders at greater levels than similar surveys conducted in other areas of the world with more than one million adults with serious impairment levels. Discussion: The results show that, despite the vast socioeconomic differences between the three countries, there are correlations regarding mental health prevalence and difficulty to provide adequate services including a lack of awareness of how serious mental illness is, stigma for seeking mental illness, with comorbidity a common phenomenon, and a lack of partnership between different levels of service providers, which weakens mental health service delivery. The findings also indicate that mental health training institutions have a monumental task to prepare personnel to address the future mental health needs in each of the countries compared, which will constitute the next phase of the research.

Keywords: mental health epidemiology, mental health disorder, mental health prevalence, mental health treatment

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Authors: Faisal A. Salih

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Vinpocetine (Vin) is an ethyl ester of apovincamic acid and is a semisynthetic derivative of vincamine, an alkaloid from plants of the genus Periwinkle (plant) vinca minor. It was found that this compound stimulates cerebral metabolism: it increases the uptake of glucose and oxygen, as well as the consumption of these substances by the brain tissue. Vinpocetine enhances the flow of blood in the brain and has a vasodilating, antihypertensive, and antiplatelet effect. Vinpocetine seems to improve the human ability to acquire new memories and restore memories that have been lost. This drug has been clinically used for the treatment of cerebrovascular disorders such as stroke and dementia memory disorders, as well as in ophthalmology and otorhinolaryngology. It has no side effects, and no toxicity has been reported when using vinpocetine for a long time. For the quantitative determination of Vin in dosage forms, the HPLC methods are generally used. A promising alternative is potentiometry with Vin- selective electrode, which does not require expensive equipment and materials. Another advantage of the potentiometric method is that the pills and solutions for injections can be used directly without separation from matrix components, which reduces both analysis time and cost. In this study, it was found that the choice of a good plasticizer an electrode with the following membrane composition: PVC (32.8 wt.%), ortho-nitrophenyl octyl ether (66.6 wt.%), tetrakis-4-chlorophenyl borate (0.6 wt.%) exhibits excellent analytical performance: lower detection limit (LDL) 1.2•10⁻⁷ M, linear response range (LRR) 1∙10⁻³–3.9∙10⁻⁶ M, the slope of the electrode function 56.2±0.2 mV/decade). Vin masses per average tablet weight determined by direct potentiometry (DP) and potentiometric titration (PT) methods for the two different sets of 10 tablets were (100.35±0.2–100.36±0.1) mg for two sets of blister packs. The mass fraction of Vin in individual tablets, determined using DP, was (9.87 ± 0.02–10.16 ±0.02) mg, while the RSD was (0.13–0.35%). The procedure has very good reproducibility, and excellent compliance with the declared amounts was observed.

Keywords: vinpocetine, potentiometry, ion selective electrode, pharmaceutical analysis

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Authors: Nassima Elyebdri, Asma Boumediou, Soumia Addoun

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Traditional medicine has been part of the Algerian culture for decades. In particular, the city of Tlemcen still retains practices based on phytotherapy to the present day, as this kind of medicine fulfills the needs of its followers among the local population. The toxic plants contain diverse natural substances which supplied a lot of medicine in the pharmaceutical industry. In order to explore new medicinal sources among toxic plants, an ethnobotanical study was carried out on the use of these plants by the population, at Emir Abdelkader Square of the city of Tlemcen, a rather busy place with a high number of traditional health practitioners and herbalists. This is a descriptive and transversal study aimed at estimating the frequency of using toxic plants among the studied population, for a period of 4 months. The information was collected, using self-anonymous questionnaires, and analyzed by the IBM SPSS Statistics software used for statistical analysis. A sample of 200 people, including 120 women and 80 men, were interviewed. The mean age was 41 ± 16 years. Among those questioned, 83.5% used plants; 8% of them used toxic plants and 35% used plants that can be toxic under certain conditions. Some improvements were observed in 88% of the cases where toxic plants were used. 80 medicinal plants, belonging to 36 botanical families, were listed, identified and classified. The most frequent indications for these plants were for respiratory diseases in 64.7% of cases, and for digestive disorders in 51.5% of cases. 11% of these plants are toxic, 26% could be toxic under certain conditions. Among toxics plants, the most common ones are Berberis vulgaris with 5.4%, indicated in the treatment of uterine fibroids and thyroid, Rhamnus alaternus with 4.8% for hepatic jaundice, Nerium oleander with 3% for hemorrhoids, Ruta chalepensis with 1.2%, indicated for digestive disorders and dysmenorrhea, and Viscum album with 1.2%, indicated for respiratory diseases. The most common plants that could be toxic are Mentha pulegium (15.6%), Eucalyptus globulus (11.4%), and Pimpinella anisum (10.2%). This study revealed interesting results on the use of toxic plants, which are likely to serve as a basis for further ethno-pharmacological investigations in order to get new drug sources.

Keywords: ethnobotany, phytotherapy, Tlemcen, toxic plants

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Authors: Scholastic Nangila Adeli, Francisca Mbutitia Ngithi

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Stigma is commonly associated with mental health patients and may act as a barrier to individuals who may seek or engage in treatment services. Stigmatization among university students is common whether they know someone with a mental health problem, or have a good knowledge and experience of mental health issues. The objective of this study was to establish the various barriers that prevent university students who have mental health challenges from seeking treatment and care. The study was a descriptive in nature where 320 respondents helped to establish the barriers to treatment or participation in mental health care among university students. A questionnaire was used to help establish the barriers and attitude towards mental illness among the respondents. Results from this study revealed that mental illnesses are common among university students and they are manifested in different forms like; anxiety and panic attacks, mood and eating disorders, Impulse control leading to gambling, alcohol and drug addictions, anger and depression leading to loneliness. Mental stigma (both social and self) was the major barrier with 62% of the respondents stating that social stigma was worse than self-stigma. This is because of the social discrimination towards the victim of mental challenges. On issues of attitude, 71% of the respondents said that they can never admit that they have a mental issue and would rather secretly seek clinical or psychological help for fear of being discriminated or excluded by peers. This view is informed by the societal belief that people with mental health challenges were dangerous (associating them with criminal behavior) and hard to socialize with or help. From the findings of this study, it is concluded that mental health problems are real among university students in Kenya and it is important for the university environment to minimize or eradicate stigma within the social circles. Stigma can be minimized or eradicated by creating awareness among university students and fostering social inclusion so that the students who have mental health challenges can experience a sense of belonging and acceptance hence build their self-esteem.

Keywords: disorders, impulse control, mental health problems, stigma

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Authors: Parvin Mirmiran, Zahra Bahadoran, Sahar Mirzae, Fereidoun Azizi

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Background and aim: Lifestyle factors, especially dietary intakes play an important role in metabolism of lipids and lipoproteins. In this study, we assessed the association between dietary factors and 3-year changes of serum triglycerides (TG), HDL-C and the atherogenic index of plasma among Iranian adults. This longitudinal study was conducted on 1938 subjects, aged 19-70 years, who participated in the Tehran Lipid and Glucose Study. Demographics, anthropometrics and biochemical measurements including serum TG were assessed at baseline (2006-2008) and after a 3-year follow-up (2009-2011). Dietary data were collected by using a 168-food item, validated semi-quantitative food frequency questionnaire at baseline. The risk of hypertriglyceridemia in the quartiles of dietary factors was evaluated using logistic regression models with adjustment for age, gender, body mass index, smoking, physical activity and energy intakes. Results: Mean age of the participants at baseline was 41.0±13.0 y. Mean TG and HDL-C at baseline was 143±86 and 42.2±10.0 mg/dl, respectively. Three-year change of serum TG were inversely related energy intake from phytochemical rich foods, whole grains, and legumes (P<0.05). Higher intakes compared to lower ones of dietary fiber and phytochemical-rich foods had similar impact on decreased risk of hyper-triglyceridemia (OR=0.58, 95% CI=0.34-1.00). Higher- compared to lower-dietary sodium to potassium ratios (Na/K ratio) increased the risk of hypertriglyceridemia by 63% (OR=0.1.63, 95% CI= 0.34-1.00). Conclusion: Findings showed that higher intakes of fiber and phytochemical rich foods especially whole grain and legumes could have protective effects against lipid disorders; in contrast higher sodium to potassium ratio had undesirable effect on triglycerides.

Keywords: lipid disorders, hypertriglyceridemia, diet, food science

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Authors: Khaled Sekkoum

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The traditional pharmacopoeia of Algerian Sahara is very rich on vegetable drugs. The great resources and biodiversity of Algerian Sahara flora seem responsible. A survey of medicinal plants used by the local population of the south west of Algeria for the urinary disorders is reported. Sixty-three plant species belonging to thirty-three families were identified. Their botanical and local names, plant part used, mode of use and ailment treated are given.

Keywords: medicinal plants, urinary diseases, Sahara, Algeria

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Authors: Burcu Inal, Irfan Kandemir

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Sequences of mitochondrial cytochrome oxidase I (COI) gene of twenty-five Turkish and one Greek Myzus cerasi (Fabricus) (Hemiptera: Aphididae) in populations were collected from Prunus avium and Prunus cerasus. The partial coding region of COI studied is 605 bp for all the populations, from which 565 nucleotides were conserved, 40 were variable, 37 were singleton, and 3 sites were parsimony-informative. Four haplotypes were identified based on nucleotide substitutions, and the mean of intraspecific divergence was calculated to be 0.3%. Phylogenetic trees were constructed using Maximum Likelihood, Minimum Evolution, Neighbor-joining, and Unweighed Pair Group Method of Arithmetic Averages (UPGMA) and Myzus persicae (Sulzer) and Myzus borealis Ossiannilson were included as outgroups. The population of M. cerasi from Isparta diverged from the rest of the groups and formed a clade (Haplotype B) with Myzus borealis. The rest of the haplotype diversity includes Haplotype A and Haplotype C with individuals characterized as Myzus cerasi pruniavium and Haplotype D with Myzus cerasi cerasi. M. cerasi diverge into two subspecies and it must be reevaluated whether this pest is monophagous or oligophagous in terms of plant type dependence. The obligated endosymbiont Buchnera aphidicola was also found during this research, but no facultative symbionts could be found. It is expected further studies will be required for a complete barcoding and diversity of bacterial endosymbionts present.

Keywords: bacterial endosymbionts, barcoding, black cherry aphid, nucleotide diversity

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Authors: Yin Hua Zhang

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Cardiac metabolism is essential in myocardial contraction. In addition to glucose, fatty acids (FA) are essential in producing energy in the myocardium since FA-dependent beta-oxidation accounts for > 70-90% of cellular ATP under resting conditions. However, metabolism shifts from FAs to glucose utilization during disease progression (e.g. hypertrophy and ischemic myocardium), where glucose oxidation and glycolysis become the predominant sources of cellular ATP. At advanced failing stage, both glycolysis and beta-oxidation are dysregulated, result in insufficient supply of intracellular ATP and weakened myocardial contractility. Undeniably, our understandings of myocyte function in healthy and diseased hearts are based on glucose (10 mM)-dependent metabolism because glucose is the “sole” metabolic substrate in most of the physiological experiments. In view of the importance of FAs in cardiovascular health and diseases, we aimed to elucidate the impacts of FA supplementation on myocyte contractility and evaluate cellular mechanisms those mediate the functions in normal heart and with pathological stress. In particular, we have investigated cardiac excitation-contraction (E-C) coupling in the presence and absence of FAs in normal and hypertensive rat left ventricular (LV) myocytes. Our results reveal that FAs increase mitochondrial activity, intracellular [Ca²+]i, and LV myocyte contraction in healthy LV myocytes, whereas FA-dependent cardiac inotropyis attenuated in hypertension. FA-dependent myofilament Ca²+ desensitization could be fundamental in regulating [Ca²+]i. Collectively, FAs supplementation resets cardiac E-C coupling scheme in healthy and diseased hearts.

Keywords: hypertension, fatty acid, heart, calcium

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Authors: Zain Ul Abdin, Mirza Aizaz Asim, Rao Sohail Ahmad Khan, Luqman Amrao, Fiaz Hussain, Hasooba Hira, Saqi Kosar Abbas

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The success of Integrated vector management programmes mainly depends on the correct identification of insect vector species involved in vector borne diseases. Based on molecular data the most important insect species involved as vectors for Zoonotic diseases in Pakistan were identified. The precise and accurate identification of such type of organism is only possible through molecular based techniques like “DNA barcoding”. Morphological species identification in insects at any life stage, is very challenging, therefore, DNA barcoding was used as a tool for rapid and accurate species identification in a wide variety of taxa across the globe and parallel studies revealed that DNA barcoding data can be effectively used in resolving taxonomic ambiguities, detection of cryptic diversity, invasion biology, description of new species etc. A comprehensive survey was carried out for the collection of insects (both adult and immature stages) in district Faisalabad, Pakistan and their DNA was extracted and mitochondrial cytochrome oxidase subunit I (COI-59) barcode sequences was used for molecular identification of immature and adult life stage.This preliminary research work opens new frontiers for developing sustainable insect vectors management programmes for saving lives of mankind from fatal diseases.

Keywords: zoonotic diseases, cytochrome oxidase, and insect vectors, CO1

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Authors: Lin Fu-Gong

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Background: As WHO announced, people with intellectual disability (ID) were vulnerable to mental health problems. And there were few custom-made mental health scales for those people to monitor their mental health. Those people with mental problems often accompanied worse prognosis and usually became to be a heavier burden on the caregivers. Purpose: In this study, we intend to develop a psychopathy scale as a practical tool for monitoring the mental health for people with ID living in institute. Methods: In this study, we adopt the Psychopathology Inventory for Mentally Retarded Adults developed by professor Matson with certified reliability and validity in Western countries with Dr. Matson’s agreement in advance. We first translated the inventory into Chinese validated version considering the domestic culture background in the past year. And the validity and reliability evaluation of mental health status using this inventory among the people with intellectual living in the institute were done. Results: The inventory includes eight psychiatric disorder scales as schizophrenic, affective, psychosexual, adjustment, anxiety, somatoform, personality disorders and inappropriate mental adjustment. Around 83% of 40 invested people, who randomly selected from the institute, were found to have at least one disorder who were recommended with medical help by two evaluators. Among the residents examined, somatoform disorder and inappropriate mental adjustment were most popular with 60% and 78% people respectively. Conclusion: The result showed the prevalence psychiatric disorders were relatively high among people with ID in institute and the mental problems need to be further cared and followed for their mental health. The results showed that the psychopathology inventory was a useful tool for institute caregiver, manager and for long-term care policy to the government. In the coming stage, we plan to extend the use of the valid Chinese version inventory among more different type institutes for people with ID to establish their dynamic mental health status including medical need, relapse and rehabilitation to promote their mental health.

Keywords: intellectual disability, psychiatric disorder, psychopathology inventory, mental health, the institute

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Authors: Mohd Aslam Aslam

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Chronic renal failure is a debilitating condition responsible for high morbidity and mortality. Because of its costs and the complexity of its treatment, proper care is available to very few patients in India. According to researchers, the number of adults aged 30 or older who have chronic kidney disease is projected to increase from 13.2 percent currently, to 14.4 percent in 2020 and 16.7 percent in 2030. The aerial part of Aerva lanata (Busehri booti) have been used in kidney disorders by the Unani physicians. In the present study, the effect of extract of Aerva lanata was investigated on cisplatin-induced nephrotoxicity in rats. The renal effects of this drug was evaluated by monitoring levels of blood urea nitrogen (BUN), serum creatinine, serum uric acid in blood and histopathological examination of kidney. Aerva lanata was evaluated at two different doses (1400 mg/kg and 2800 mg/kg). The effect of higher dose was more pronounced in terms of inhibition in the rise of BUN, serum creatinine and uric acid. Higher dose show greater prevention in the rise of BUN, serum creatinine, and uric acid. The histopathological examination of the kidney tissue of the rats treated with aqueous methanolic extract of Aerva lanata (Higher dose-2800 mg/kg) showed marked inhibition of glomerular congestion, tubular casts, peritubular congestion, epithelial desquamation, blood vessel congestion, interstitial edema and inflammatory cells produced by the cisplatin-induced nephrotoxicity. This finding clearly indicates the protective role of Aerva lanata at higher dose. Present investigation validates the use of Aerva lanata in kidney disorders by Unani physicians.

Keywords: Aerva lanata, Busehri booti, nephroprotective, unani medicine

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Authors: Zahra Bahadoran, Parvin Mirmiran, Hanieh-Sadat Ejtahed, Maryam Tohidi, Fereidoun Azizi

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Background and Aim: Broccoli sprouts, rich source of bioactive compounds specially sulforaphane (SFN), have unique functional properties. This study was conducted to investigate the possible treatment effects of high-SFN broccoli sprouts powder on metabolic and liver disorders in rats fed with high-fructose corn syrup. Methods: Thirty-two male wistar rats, pretreated with an eight-week high-fructose diet (water containing 30% fructose), were randomly allocated into three groups: Baseline control (BC), control (C) (normal diet), and BSP-diet (normal diet+5% BSP). The duration of the study was 6 weeks. Biochemical measurements, liver weight and triglyceride content were evaluated and histopathological examination of liver was performed. Results: After 6-weeks, the liver weight was significantly lower in BSP group compared to controls (13.4 g vs. 11.4 g, P<0.05). After 6 weeks, a significant decrease was observed in fasting serum glucose, total cholesterol and triglyceride levels in both experimental groups (P<0.05). Compared to controls, serum levels of HDL-C were significantly higher in BSP group. The liver TG content in BSP compared to control group was lower (14.6 vs. 16.4 mg/mg tissue). The hepatic levels of alanine aminotransferase, aspartate aminotransferase and γ-glutamyl transferase had not considerable changes in the groups after the intervention period but the level of alkaline phosphatase significantly decreased in BSP group (P<0.05). The histopathological examination of liver confirmed a decrease lobular and portal inflammation and ballooning in BSP group compared to control. Conclusion: High-SFN broccoli sprouts powder has beneficials effect on metabolic and liver changes-induced by high fructose corn syrup.

Keywords: broccoli sprouts, metabolic disorders, fatty liver, food science

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Authors: S. AlBustan, B. AlGhannam

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This oral presentation discusses a proposal for a study that evaluates the usability of an evidence based application named ProxTalker App. The significance of this study will inform administration and faculty staff at the Department of Communication Sciences Disorders (CDS), College of Life Sciences, Kuwait University whether the app is a suitable tool to use for CDS students. A case study will be used involving a sample of CDS students taking practicum and internship courses during the academic year 2018/2019. The study will follow a process used by previous study. The process of calculating SUS is well documented and will be followed. ProxTalker App is an alternative and augmentative tool that speech language pathologist (SLP) can use to customize boards for their clients. SLPs can customize different boards using this app for various activities. A board can be created by the SLP to improve and support receptive and expressive language. Using technology to support therapy can aid SLPs to integrate this ProxTalker App as part of their clients therapy. Supported tools, games and motivation are some advantages of incorporating apps during therapy sessions. A quantitative methodology will be used. It involves the utilization of a standard tool that was the was adapted to the Arabic language to accommodate native Arabic language users. The tool that will be utilized in this research is the Arabic Standard Usability Scale (A-SUS) questionnaire which is an adoption of System Usability Scale (SUS). Standard usability questionnaires are reliable, valid and their process is properly documented. This study builds upon the development of A-SUS, which is a psychometrically evaluated questionnaire that targets Arabic native speakers. Results of the usability will give preliminary indication of whether the ProxTalker App under investigation is appropriate to be integrated within the practicum and internship curriculum of CDS. The results of this study will inform the CDS department of this specific app is an appropriate tool to be used for our specific students within our environment because usability depends on the product, environment, and users.

Keywords: A-SUS, communication disorders practicum, evidence based app, Standard Usability Scale

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Authors: Zehra Buyuktuncer, Aylin H. Büyükkaragöz, Tuğçe N. Balcı, Nevin Ergun

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Background: Undergoing rigid dietary habits for enhancing athletic performance could lead to eating disorders. High prevalence of eating disorders among female athletes has been already reported. However, the risk of disordered eating among disabled athletes is not known. A better knowledge of the different eating behaviors and their prevalence in disabled athletes would be helpful to understand interactions between eating and health. This study aimed to examine the cognitive restraint, uncontrolled eating and emotional eating behaviors in a disabled athlete population. Method: A total of 70 disabled Turkish national athletes (33 female, 37 male) from 5 sport branches (soccer, weight lifting, shooting, table tennis and basketball) were involved in the study. The cognitive restraint, uncontrolled eating and emotional eating behaviors were assessed using the revised version of Three Factor Eating Questionnaire-R18 (TFEQ-R18). The questionnaires were conducted by dietitian during the preparation camps of athletes. Body weight, height and waist circumference (WC) were measured; and body composition was analyzed by bioelectrical impedance analysis method. Results: The TFEQ scales showed a cognitive dietary restraint score of 13.9±4.2, uncontrolled eating score of 17.7±5.8 and emotional eating score of 4.9±2.5. The mean score of total TFEQ-R18 was 36.5±8.62. Neither total TFEQ-R18 score nor subscale scores differed significantly by gender or sport branches (p>0.05, for each). The scores were also similar in BMI groups (n=63; p>0.05). Total TFEQ, uncontrolled eating and emotional eating scores were significantly higher among the athletes with congenital disabilities compared to the scores of the athletes with acquired disabilities (p<0.05, for each). Moreover, the cognitive dietary restraint score was significantly high in athletes who would like to lose weight (p=0.009). Conclusion: Disabled athletes might have a risk of disordered eating. The different eating behaviors among disabled athletes should be assessed using validated tools to develop personalized nutritional strategies for those athletes.

Keywords: disabled athletes, eating behaviour, three-factor eating questionnaire-r18, body composition

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Authors: Pavlina Capkova, Josef Srovnal, Vera Becvarova, Marie Trkova, Zuzana Capkova, Andrea Stefekova, Vaclava Curtisova, Alena Santava, Sarka Vejvalkova, Katerina Adamova, Radek Vodicka

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ASDs are heterogeneous and complex developmental diseases with a significant genetic background. Recurrent CNVs are known to be a frequent cause of ASD. These CNVs can have, however, a variable expressivity which results in a spectrum of phenotypes from asymptomatic to ID/DD/ASD. ASD is associated with ID in ~75% individuals. Various platforms are used to detect pathogenic mutations in the genome of these patients. The performed study is focused on a determination of the frequency of pathogenic mutations in a group of ASD patients and a group of ID/DD patients using various strategies along with a comparison of their detection rate. The possible role of the origin of these mutations in aetiology of ASD was assessed. The study included 35 individuals with ASD and 68 individuals with ID/DD (64 males and 39 females in total), who underwent rigorous genetic, neurological and psychological examinations. Screening for pathogenic mutations involved karyotyping, screening for FMR1 mutations and for metabolic disorders, a targeted MLPA test with probe mixes Telomeres 3 and 5, Microdeletion 1 and 2, Autism 1, MRX and a chromosomal microarray analysis (CMA) (Illumina or Affymetrix). Chromosomal aberrations were revealed in 7 (1 in the ASD group) individuals by karyotyping. FMR1 mutations were discovered in 3 (1 in the ASD group) individuals. The detection rate of pathogenic mutations in ASD patients with a normal karyotype was 15.15% by MLPA and CMA. The frequencies of the pathogenic mutations were 25.0% by MLPA and 35.0% by CMA in ID/DD patients with a normal karyotype. CNVs inherited from asymptomatic parents were more abundant than de novo changes in ASD patients (11.43% vs. 5.71%) in contrast to the ID/DD group where de novo mutations prevailed over inherited ones (26.47% vs. 16.18%). ASD patients shared more frequently their mutations with their fathers than patients from ID/DD group (8.57% vs. 1.47%). Maternally inherited mutations predominated in the ID/DD group in comparison with the ASD group (14.7% vs. 2.86 %). CNVs of an unknown significance were found in 10 patients by CMA and in 3 patients by MLPA. Although the detection rate is the highest when using CMA, recurrent CNVs can be easily detected by MLPA. CMA proved to be more efficient in the ID/DD group where a larger spectrum of rare pathogenic CNVs was revealed. This study determined that maternally inherited highly penetrant mutations and de novo mutations more often resulted in ID/DD without ASD in patients. The paternally inherited mutations could be, however, a source of the greater variability in the genome of the ASD patients and contribute to the polygenic character of the inheritance of ASD. As the number of the subjects in the group is limited, a larger cohort is needed to confirm this conclusion. Inherited CNVs have a role in aetiology of ASD possibly in combination with additional genetic factors - the mutations elsewhere in the genome. The identification of these interactions constitutes a challenge for the future. Supported by MH CZ – DRO (FNOl, 00098892), IGA UP LF_2016_010, TACR TE02000058 and NPU LO1304.

Keywords: autistic spectrum disorders, copy number variant, chromosomal microarray, intellectual disability, karyotyping, MLPA, multiplex ligation-dependent probe amplification

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Authors: Nidhi Chadha, A. K. Tiwari, Marilyn D. Milton, Anil K. Mishra

Abstract:

Translocator protein (18 kDa) TSPO is highly expressed during microglia activation in neuroinflammation. Although a number of PET ligands have been developed for the visualization of activated microglia, one of the advantageous approaches is to develop potential optical imaging (OI) probe. Our study involves computational screening, synthesis and evaluation of TSPO ligand through various imaging modalities namely PET/SPECT/Optical. The initial computational screening involves pharmacophore modeling from the library designing having oxo-benzooxazol-3-yl-N-phenyl-acetamide groups and synthesis for visualization of efficacy of these compounds as multimodal imaging probes. Structure modeling of monomer, Ala147Thr mutated, parallel and anti-parallel TSPO dimers was performed and docking analysis was performed for distinct binding sites. Computational analysis showed pattern of variable binding profile of known diagnostic ligands and NBMP via interactions with conserved residues along with TSPO’s natural polymorphism of Ala147→Thr, which showed alteration in the binding affinity due to considerable changes in tertiary structure. Preliminary in vitro binding studies shows binding affinity in the range of 1-5 nm and selectivity was also certified by blocking studies. In summary, this skeleton was found to be potential probe for TSPO imaging due to ease in synthesis, appropriate lipophilicity and reach to specific region of brain.

Keywords: TSPO, molecular modeling, imaging, docking

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Authors: Efstratios Karavasilis, Foteini Christidi, Georgios Velonakis, Agapi Plousi, Kalliopi Platoni, Nikolaos Kelekis, Ioannis Evdokimidis, Efstathios Efstathopoulos

Abstract:

Introduction: Advanced structural and functional neuroimaging techniques contribute to the study of anatomical and functional brain connectivity and its role in the pathophysiology and symptoms’ heterogeneity in several neurodegenerative disorders, including multiple sclerosis (MS). Aim: In the present study, we applied multiparametric neuroimaging techniques to investigate the structural and functional cortico-cerebellar changes in MS patients. Material: We included 51 MS patients (28 with clinically isolated syndrome [CIS], 31 with relapsing-remitting MS [RRMS]) and 51 age- and gender-matched healthy controls (HC) who underwent MRI in a 3.0T MRI scanner. Methodology: The acquisition protocol included high-resolution 3D T1 weighted, diffusion-weighted imaging and echo planar imaging sequences for the analysis of volumetric, tractography and functional resting state data, respectively. We performed between-group comparisons (CIS, RRMS, HC) using CAT12 and CONN16 MATLAB toolboxes for the analysis of volumetric (cerebellar gray matter density) and functional (cortico-cerebellar resting-state functional connectivity) data, respectively. Brainance suite was used for the analysis of tractography data (cortico-cerebellar white matter integrity; fractional anisotropy [FA]; axial and radial diffusivity [AD; RD]) to reconstruct the cerebellum tracts. Results: Patients with CIS did not show significant gray matter (GM) density differences compared with HC. However, they showed decreased FA and increased diffusivity measures in cortico-cerebellar tracts, and increased cortico-cerebellar functional connectivity. Patients with RRMS showed decreased GM density in cerebellar regions, decreased FA and increased diffusivity measures in cortico-cerebellar WM tracts, as well as a pattern of increased and mostly decreased functional cortico-cerebellar connectivity compared to HC. The comparison between CIS and RRMS patients revealed significant GM density difference, reduced FA and increased diffusivity measures in WM cortico-cerebellar tracts and increased/decreased functional connectivity. The identification of decreased WM integrity and increased functional cortico-cerebellar connectivity without GM changes in CIS and the pattern of decreased GM density decreased WM integrity and mostly decreased functional connectivity in RRMS patients emphasizes the role of compensatory mechanisms in early disease stages and the disintegration of structural and functional networks with disease progression. Conclusions: In conclusion, our study highlights the added value of multimodal neuroimaging techniques for the in vivo investigation of cortico-cerebellar brain changes in neurodegenerative disorders. An extension and future opportunity to leverage multimodal neuroimaging data inevitably remain the integration of such data in the recently-applied mathematical approaches of machine learning algorithms to more accurately classify and predict patients’ disease course.

Keywords: advanced neuroimaging techniques, cerebellum, MRI, multiple sclerosis

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Authors: Peter David Reiss

Abstract:

The concept of the psychosis prodrome has allowed for the identification of adolescent and young adult patients who have a significantly elevated risk of developing schizophrenia spectrum disorders. A number of different interventions have been tested in order to prevent or delay progression of symptoms. To date, there has been no consistent meta-analytical evidence to support efficacy of antipsychotic treatment for patients in the prodromal state, and their use remains therefore inconclusive. Although antipsychotics may manage symptoms transiently, they have not been found to prevent or delay onset of psychotic disorders. Furthermore, pharmacological intervention in high-risk individuals remains controversial, because of the antipsychotic side effect profile in a population in which only about 20 to 35 percent will eventually convert to psychosis over a two-year period, with even after two years conversion rates not exceeding 30 to 40 percent. This general estimate is additionally problematic, in that it ignores the fact that there is significant variation in individual risk among clinical high-risk cases. The current lack of reliable tests for at-risk patients makes it difficult to justify individual treatment decisions. Preventive treatment should ideally be dictated by an individual’s risk while minimizing potentially harmful medication exposure. This requires more accurate predictive assessments by using valid and accessible prognostic markers. The following will compare prediction and risk modification potential of behavioral biomarkers such as disturbances of basic sense of self and emotion awareness, neurocognitive biomarkers such as attention, working and declarative memory, and neurophysiological biomarkers such as glutamatergic abnormalities and NMDA receptor dysfunction. Identification of robust biomarkers could therefore not only provide more reliable means of psychosis prediction, but also help test and develop new clinical interventions targeted at the prodromal state.

Keywords: at-risk mental state, biomarkers, glutamatergic system, NMDA receptor, psychosis prodrome, schizophrenia

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Authors: Ayse Gul Bilen

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Selective serotonin reuptake inhibitors (SSRIs) are commonly prescribed antidepressants that are used clinically for the treatment of anxiety disorders, obsessive-compulsive disorder (OCD), panic disorders and eating disorders. The first SSRI, fluoxetine (sold under the brand names Prozac and Sarafem among others), had an adverse effect profile better than any other available antidepressant when it was introduced because of its selectivity for serotonin receptors. They have been considered almost free of side effects and have become widely prescribed, however questions about the safety and tolerability of SSRIs have emerged with their continued use. Most SSRI side effects are dose-related and can be attributed to serotonergic effects such as nausea. Continuous use might trigger adverse effects such as hyponatremia, tremor, nausea, weight gain, sleep disturbance and sexual dysfunction. Moderate toxicity can be safely observed in the hospital for 24 hours, and mild cases can be safely discharged (if asymptomatic) from the emergency department once cleared by Psychiatry in cases of intentional overdose and after 6 to 8 hours of observation. Although fluoxetine is relatively safe in terms of overdose, it might still be cardiotoxic and inhibit platelet secretion, aggregation, and plug formation. There have been reported clinical cases of seizures, cardiac conduction abnormalities, and even fatalities associated with fluoxetine ingestions. While the medical literature strongly suggests that most fluoxetine overdoses are benign, emergency physicians need to remain cognizant that intentional, high-dose fluoxetine ingestions may induce seizures and can even be fatal due to cardiac arrhythmia. Our case is a 35-year old female patient who was sent to ER with symptoms of confusion, amnesia and loss of orientation for time and location after being found wandering in the streets unconsciously by police forces that informed 112. Upon laboratory examination, no pathological symptom was found except sinus tachycardia in the EKG and high levels of aspartate transaminase (AST) and alanine transaminase (ALT). Diffusion MRI and computed tomography (CT) of the brain all looked normal. Upon physical and sexual examination, no signs of abuse or trauma were found. Test results for narcotics, stimulants and alcohol were negative as well. There was a presence of dysrhythmia which required admission to the intensive care unit (ICU). The patient gained back her conscience after 24 hours. It was discovered from her story afterward that she had been using fluoxetine due to post-traumatic stress disorder (PTSD) for 6 months and that she had attempted suicide after taking 3 boxes of fluoxetine due to the loss of a parent. She was then transferred to the psychiatric clinic. Our study aims to highlight the need to consider toxicologic drug use, in particular, the abuse of selective serotonin reuptake inhibitors (SSRIs), which have been widely prescribed due to presumed safety and tolerability, for diagnosis of patients applying to the emergency room (ER).

Keywords: abuse, amnesia, fluoxetine, intoxication, SSRI

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Authors: Sudip Subedi, Nipesh Pradhananga

Abstract:

The musculoskeletal disorders, also known as MSDs, are common in construction workers. MSDs include lower back injuries, knee injuries, spinal injuries, and joint injuries, among others. Since most construction tasks are still manual, construction workers often need to perform repetitive, labor-intensive tasks. And they need to stay in the same or an awkward posture for an extended time while performing such tasks. It induces significant stress to the joints and spines, increasing the risk of getting into MSDs. Manual monitoring of such tasks is virtually impossible with the handful of safety managers in a construction site. This paper proposes a methodology for performing kinetic analysis of the working postures while performing such tasks in real-time. Skeletal of different workers will be tracked using a depth-sensing camera while performing the task to create training data for identifying the best posture. For this, the kinetic analysis will be performed using a human musculoskeletal model in an open-source software system (OpenSim) to visualize the stress induced by essential joints. The “safe posture” inducing lowest stress on essential joints will be computed for different actions involved in the task. The identified “safe posture” will serve as a basis for real-time monitoring and identification of awkward and unsafe postural behaviors of construction workers. Besides, the temporal simulation will be carried out to find the associated long-term effect of repetitive exposure to such observed postures. This will help to create awareness in workers about potential future health hazards and encourage them to work safely. Furthermore, the collected individual data can then be used to provide need-based personalized training to the construction workers.

Keywords: construction workers’ safety, depth sensing camera, human body kinetics, musculoskeletal disorders, real time monitoring, repetitive labor-intensive tasks

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Authors: Rona Hanani Simamora, Bahagia Loebis, M. Surya Husada

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Background: The exact cause of schizophrenia is not known, although several etiology theories have been proposed for the disease, including immune dysfunction or autoimmune mechanisms. Cytokines including Tnf-α has an important role in the pathophysiology of schizophrenia and the effects of pharmacological treatment with antipsychotics. Nicotine is widespread effects on the brain, immune system and cytokine levels. Smoking among schizophrenic patients could play a role in the altered cytokine profiles of schizophrenia such as Tnf-α. Aims: To determine differences of serum Tnf-α levels between schizophrenic patients with smoking in male and healthy control. Methods: This study was a comparative analytic study, divided into two groups: 1) group of male schizophrenic patients with smoking (n1=30) with inclusion criteria were patients who have been diagnosed schizophrenic based PPDGJ-III, 20-60 years old, male, smoking, chronic schizophrenic patients in the stable phase and willing to participate this study. Exclusion criteria were having other mental disorders and comorbidity with other medical illnesses. 2) healthy control group (n2=30) with inclusion criteria were 20-60 years old, male, smoking, willing to participate this study. Exclusion criteria were having mental disorder, a family history of psychiatric disorders, the other medical illnesses, a history of alcohol and other substances abuse (except caffeine and nicotine). Serum Tnf-α were analyzed using the Quantikine HS Human Tnf –α Immunoassay. Results: Serum Tnf-α level measure in patient schizophrenia male with smoking and compared with the healthy control subjects. Tnf-α levels were significantly higher in patients schizophrenic male with smoking (25,79±27,96) to healthy control subjects (2,74±2,19), by using the Mann Whitney U test showed a statistically significant difference was observed for serum Tnf-α level (p < 0,001). Conclusions: Schizophrenia is a highly heterogeneous disorder, and this study shows an increase Tnf-α as pro-inflammation cytokines in schizophrenics. These results suggest an immune abnormalities may be involved in the etiology and pathophysiology of schizophrenia.

Keywords: male, schizophrenic, smoking, Tnf Alpha

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Authors: Anjani Kumar Tiwari, Neelam Kumari, Anil Mishra

Abstract:

The 18-kDa translocator protein (TSPO) previously called as peripheral benzodiazepine receptor, is proven biomarker for variety of neuroinflammation. TSPO is tryptophane rich five transmembranal protein found on outer mitochondrial membrane of steroid synthesising and immunomodulatory cells. In case of neuronal damage or inflammation the expression level of TSPO get upregulated as an immunomodulatory response. By utilizing Benzoxazolone as a basic scaffold, series of TSPO ligands have been designed followed by their screening through in silico studies. Synthesis has been planned by employing convergent methodology in six high yielding steps. For the synthesized ligands the ‘in vitro’ assay was performed to determine the binding affinity in term of Ki. On ischemic rat brain, autoradiography studies were also carried to check the specificity and affinity of the designed radiolabelled ligand for TSPO.Screening was performed on the basis of GScore of CADD based schrodinger software. All the modified and better prospective compound were successfully carried out and characterized by spectroscopic techniques (FTIR, NMR and HRMS). In vitro binding assay showed best binding affinity Ki = 6.1+ 0.3 for TSPO over central benzodiazepine receptor (CBR) Ki > 200. ARG studies indicated higher uptake of two analogues on the lesion side compared with that on the non-lesion side of ischemic rat brains. Displacement experiments with unlabelled ligand had minimized the difference in uptake between the two sides which indicates the specificity of the ligand towards TSPO receptor.

Keywords: TSPO, PET, imaging, Acetamidobenzoxazolone

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Authors: Eglal Y. Ali, Smita Rao, Anat Lubetzky, Wen Ling

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Background: Postural abnormalities, rigidity, clumsiness, and frequent falls are common among children with autism spectrum disorders (ASD). The central nervous system’s ability to process all reliable sensory inputs (weighting) and disregard potentially perturbing sensory input (reweighting) is critical for successfully maintaining standing postural control. This study examined how sensory inputs (visual and somatosensory) are weighted and reweighted to maintain standing postural control in children with ASD compared with typically developing (TD) children. Subjects: Forty (20 (TD) and 20 ASD) children and adolescents participated in this study. The groups were matched for age, weight, and height. Participants had normal somatosensory (no somatosensory hypersensitivity), visual, and vestibular perception. Participants with ASD were categorized with severity level 1 according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) and Social Responsiveness Scale. Methods: Using one force platform, the center of pressure (COP) was measured during quiet standing for 30 seconds, 3 times first standing on stable surface with eyes open (Condition 1), followed by randomization of the following 3 conditions: Condition 2 standing on stable surface with eyes closed, (visual input perturbed); Condition 3 standing on compliant foam surface with eyes open, (somatosensory input perturbed); and Condition 4 standing on compliant foam surface with eyes closed, (both visual and somatosensory inputs perturbed). Standing postural control was measured by three outcome measures: COP sway area, COP anterior-posterior (AP), and mediolateral (ML) path length (PL). A repeated measure mixed model Analysis of Variance was conducted to determine whether there was a significant difference between the two groups in the mean of the three outcome measures across the four conditions. Results: According to all three outcome measures, both groups showed a gradual increase in postural sway from condition 1 to condition 4. However, TD participants showed a larger postural sway than those with ASD. There was a significant main effect of condition on three outcome measures (p< 0.05). Only the COP AP PL showed a significant main effect of the group (p<0.05) and a significant group by condition interaction (p<0.05). In COP AP PL, TD participants showed a significant difference between condition 2 and the baseline (p<0.05), whereas the ASD group did not. This suggests that the ASD group did not weight visual input as much as the TD group. A significant difference between conditions for the ASD group was seen only when participants stood on foam regardless of the visual condition, suggesting that the ASD group relied more on the somatosensory inputs to maintain the standing postural control. Furthermore, the ASD group exhibited significantly smaller postural sway compared with TD participants during standing on the stable surface, whereas the postural sway of the ASD group was close to that of the TD group on foam. Conclusion: These results suggest that participants with high functioning ASD (level 1, no somatosensory hypersensitivity in ankles and feet) over-rely on somatosensory inputs and use a stiffening strategy for standing postural control. This deviation in the reweighting mechanism might explain the postural abnormalities mentioned above among children with ASD.

Keywords: autism spectrum disorders, postural sway, sensory weighting and reweighting, standing postural control

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Authors: Eglal Y. Ali, Smita Rao, Anat Lubetzky, Wen Ling

Abstract:

Background: Postural abnormalities, rigidity, clumsiness, and frequent falls are common among children with autism spectrum disorders (ASD). The central nervous system’s ability to process all reliable sensory inputs (weighting) and disregard potentially perturbing sensory input (reweighting) is critical for successfully maintaining standing postural control. This study examined how sensory inputs (visual and somatosensory) are weighted and reweighted to maintain standing postural control in children with ASD compared with typically developing (TD) children. Subjects: Forty (20 (TD) and 20 ASD) children and adolescents participated in this study. The groups were matched for age, weight, and height. Participants had normal somatosensory (no somatosensory hypersensitivity), visual, and vestibular perception. Participants with ASD were categorized with severity level 1 according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) and Social Responsiveness Scale. Methods: Using one force platform, the center of pressure (COP) was measured during quiet standing for 30 seconds, 3 times first standing on stable surface with eyes open (Condition 1), followed by randomization of the following 3 conditions: Condition 2 standing on stable surface with eyes closed, (visual input perturbed); Condition 3 standing on a compliant foam surface with eyes open, (somatosensory input perturbed); and Condition 4 standing on a compliant foam surface with eyes closed, (both visual and somatosensory inputs perturbed). Standing postural control was measured by three outcome measures: COP sway area, COP anterior-posterior (AP), and mediolateral (ML) path length (PL). A repeated measure mixed model analysis of variance was conducted to determine whether there was a significant difference between the two groups in the mean of the three outcome measures across the four conditions. Results: According to all three outcome measures, both groups showed a gradual increase in postural sway from condition 1 to condition 4. However, TD participants showed a larger postural sway than those with ASD. There was a significant main effect of the condition on three outcome measures (p< 0.05). Only the COP AP PL showed a significant main effect of the group (p<0.05) and a significant group by condition interaction (p<0.05). In COP AP PL, TD participants showed a significant difference between condition 2 and the baseline (p<0.05), whereas the ASD group did not. This suggests that the ASD group did not weigh visual input as much as the TD group. A significant difference between conditions for the ASD group was seen only when participants stood on foam regardless of the visual condition, suggesting that the ASD group relied more on the somatosensory inputs to maintain the standing postural control. Furthermore, the ASD group exhibited significantly smaller postural sway compared with TD participants during standing on a stable surface, whereas the postural sway of the ASD group was close to that of the TD group on foam. Conclusion: These results suggest that participants with high-functioning ASD (level 1, no somatosensory hypersensitivity in ankles and feet) over-rely on somatosensory inputs and use a stiffening strategy for standing postural control. This deviation in the reweighting mechanism might explain the postural abnormalities mentioned above among children with ASD.

Keywords: autism spectrum disorders, postural sway, sensory weighting and reweighting, standing postural control

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Authors: Ismail Seçer

Abstract:

The purpose of this study is to investigate the effects of anxiety sensitivity in adolescents on anxiety disorder and childhood depression. Mood disorders and anxiety disorders in children and adolescents can be given examples of important research topics in recent years. The participants of the study consist of 670 students in Erzurum and Erzincan city centers. The participants of the study were 670 secondary and high school students studying in city centers of Erzurum and Erzincan. The participants were chosen based on convenience sampling. The participants were between the ages of 13 and 18 (M=15.7, Ss= 1.35) and 355 were male and 315 were female. The data were collected through Anxiety Sensitivity Index and Anxiety and Depression Index for Children and Adolescents. For data analysis, Correlation analysis and Structural Equation Model were used. In this study, correlational descriptive survey was used. This model enables the researcher to make predictions related to different variables based on the information obtained from one or more variables. Therefore, the purpose is to make predictions considering anxiety disorder and childhood depression based on anxiety sensitivity. For this purpose, latent variable and structural equation model was used. Structural equation model is an analysis method which enables the identification of direct and indirect effects by determining the relationship between observable and latent variables and testing their effects on a single model. CFI, RMR, RMSEA and SRMR, which are commonly accepted fit indices in structural equation model, were used. The results revealed that anxiety sensitivity impacts anxiety disorder and childhood depression through direct and indirect effects in a positive way. The results are discussed in line with the relevant literature. This finding can be considered that anxiety sensitivity can be a significant risk source in terms of children's and adolescents’ anxiety disorder experience. This finding is consistent with relevant research highlighting that in case the anxiety sensitivity increases then the obsessive compulsive disorder and panic attack increase too. The adolescents’ experience of anxiety can be attributed to anxiety sensitivity.

Keywords: anxiety sensitivity, anxiety, depression, structural equation

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Authors: Gunilla Dahlgren, Per Liv, Fredrik Öhberg, Lisbeth Slunga Järvholm, Mikael Forsman, Börje Rehn

Abstract:

Background: Accuracy of risk assessment tools in hand-repetitive work is important. This can support precision in the risk management process and for a sustainable working life for women and men equally. Musculoskeletal disorders, MSDs, from the hand, wrist, and forearm, are common in the working population. Women report a higher prevalence of MSDs in these regions. Objective: The objective of this study was to compare if women and men who performed the identical hand-intensive work task were rated equally using the Hand Activity Threshold Limit Value® (HA-TLV) when self-rated and observer-rated. Method: Fifty-six workers from eight companies participated, with various intensities in hand-repetitive work tasks. In total, 18 unique identical hand-intensive work tasks were executed in 28 pairs of a woman and a man. Hand activity and force levels were assessed. Each worker executed the work task for 15 minutes, which was also video recorded. Data was collected on workers who self-rated directly after the execution of the work task. Also, experienced observers performed ratings from videos of the same work tasks. For comparing means between women and men, paired samples t-tests were used. Results: The main results showed that there was no difference in self-ratings of hand activity level and force by women and men who executed the same work task. Further, there was no difference between observer ratings of hand activity level. However, the observer force ratings of women and men differed significantly (p=0.01). Conclusion: Hand activity and force levels are rated equally in women and men when self-rated, also by observers for hand activity. However, it is an observandum that observer force rating is rated higher for women and lower for men. This indicates the need of comparing force ratings with technical measures.

Keywords: gender, equity, sex differences, repetitive strain injury, cumulative trauma disorders, upper extremity, exposure assessment, workload, health risk assessment, observation, psychophysics

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