Search results for: genetic disorder

Authors: Meltem Ramoglu, Ertugrul Safran, Hikmet Ucgun, Busra Kepenek Varol, Hulya Nilgun Gurses

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Down’s syndrome (DS) is a human genetic disorder caused by the presence of all or part of an extra chromosome 21. Many patients with DS have musculoskeletal problems that affect weak muscle tone (hypotonia) and ligament laxity. This leads to excessive joint hypermobility and decreased position sense (proprioception). Lack of proprioception may cause balance problems. The aim of our study was to investigate how does joint hypermobility affect balance in patients with DS. Our study conducted with 13 DS patients age between 18 to 40 years. Demographic data were recorded. Beighton Hypermobility Score (BHS) was used to evaluate joint hypermobility. Balance score of participants was evaluated with Berg Balance Scale (BBS). Mean age of our participants was 29,8±3,57 year. Average score of body mass index and BHS were; 33,23 ±3,78 kg/m2 and 7,61±1,04, respectively. Out of a maximum possible score of 56 on the Berg Balance Scale, scores of participants with DS ranged from 36–51, with a mean of 43±4,45. Significant correlation was found between BHS and BBS (r: -,966, p=0.00). All of our participants have 6/9 or higher grade from BHS. As a conclusion of our study; joint hypermobility may affect balance score in patients with DS. The results suggest that people with DS have worse balance scores which affected by hypermobility. Further studies need larger population for more reliable results.

Keywords: adults, balance, Down's syndrome, joint hypermobility

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Authors: P. M. Sreekanth

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Teak (Tectona grandis L. f.) is a tree species indigenous to India and other Southeastern countries. It produces high-value timber and is easily established in plantations. Reforestation requires a constant supply of high quality seeds. Seed Production Areas (SPA) of teak are improved stands used for collection of open-pollinated quality seeds in large quantities. Information on the genetic diversity of major teak SPAs in India is scanty. The genetic structure of four important seed production areas of Kerala State in Southern India was analyzed employing amplified fragment length polymorphism markers using ten selective primer combinations on 80 samples (4 populations X 20 trees). The study revealed that the gene diversity of the SPAs varied from 0.169 (Konni SPA) to 0.203 (Wayanad SPA). The percentage of polymorphic loci ranged from 74.42 (Parambikulam SPA) to 84.06 (Konni SPA). The mean total gene diversity index (HT) of all the four SPAs was 0.2296 ±0.02. A high proportion of genetic diversity was observed within the populations (83%) while diversity between populations was lower (17%) (GST = 0.17). Principal coordinate analysis and STRUCTURE analysis of the genotypes indicated that the pattern of clustering was in accordance with the origin and geographic location of SPAs, indicating specific identity of each population. A UPGMA dendrogram was prepared and showed that all the twenty samples from each of Konni and Parambikulam SPAs clustered into two separate groups, respectively. However, five Nilambur genotypes and one Wayanad genotype intruded into the Konni cluster. The higher gene flow estimated (Nm = 2.4) reflected the inclusion of Konni origin planting stock in the Nilambur and Wayanad plantations. Evidence for population structure investigated using 3D Principal Coordinate Analysis of FAMD software 1.30 indicated that the pattern of clustering was in accordance with the origin of SPAs. The present study showed that assessment of genetic diversity in seed production plantations can be achieved using AFLP markers. The AFLP fingerprinting was also capable of identifying the geographical origin of planting stock and there by revealing the occurrence of the errors in genotype labeling. Molecular marker-based selective culling of genetically similar trees from a stand so as to increase the genetic base of seed production areas could be a new proposition to improve quality of seeds required for raising commercial plantations of teak. The technique can also be used to assess the genetic diversity status of plus trees within provenances during their selection for raising clonal seed orchards for assuring the quality of seeds available for raising future plantations.

Keywords: AFLP, genetic structure, spa, teak

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Authors: Radwa R. El-Saadany , Medhat Abu Zeid, Tarek Omar, Marwa S. Maqsoud

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Attention deficit/hyperactivity disorder (ADHD) is one of the most common neurodevelopmental disorders characterized by attention deficit, hyperactivity, and impulsivity. Neurofeedback (NF) is one of the neurotherapy treatments that cause brain wave changes. Method: The current pseudo-experimental study with a pre–post-test design was conducted on a population of children with attention deficit hyperactivity disorder (ADHD).The sample size comprised of (30) children selected by random sampling method and assigned to two therapeutic groups: First therapeutic group received a neurofeedback program. Based on QEEG, it reached (10) children. The second therapeutic group received an organization skills training program, it reached (10) and the control group that did not receive programs, it reached (10) children. Results: There are significant differences between pre- and post-assessments among therapeutic groups in reducing the three core symptoms of ADHD in favor of post measurement. There are no significant differences between post-assessment and follow up measurement of the therapeutic groups.

Keywords: QEEG-based neurofeedback therapy program, organizational skills training program, attention deficit hyperactivity disorder

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Authors: Micheale Yifter Weldemichael

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Sesame (Sesamum indicum L.) is among the most important oilseed crops for its high edible oil quality and quantity. Sesame is grown for food, medicinal, pharmaceutical, and industrial uses. Sesame is also cultivated as a main cash crop in Asia and Africa by smallholder farmers. Despite the global exponential increase in sesame cultivation area, its production and productivity remain low, mainly due to biotic and abiotic constraints. Notwithstanding the efforts to solve these problems, a low level of genetic variation and inadequate genomic resources hinder the progress of sesame improvement. The objective of this paper is, therefore, to review recent advances in the area of molecular breeding and transformation to overcome major production constraints and could result in enhanced and sustained sesame production. This paper reviews various researches conducted to date on molecular breeding and genetic transformation in sesame focusing on molecular markers used in assessing the available online database resources, genes responsible for key agronomic traits as well as transgenic technology and genome editing. The review concentrates on quantitative and semi-quantitative studies on molecular breeding for key agronomic traits such as improvement of yield components, oil and oil-related traits, disease and insect/pest resistance, and drought, waterlogging and salt tolerance, as well as sesame genetic transformation and genome editing techniques. Pitfalls and limitations of existing studies and methodologies used so far are identified and some priorities for future research directions in sesame genetic improvement are identified in this review.

Keywords: abiotic stress, biotic stress, improvement, molecular breeding, oil, sesame, shattering

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Authors: Sonia Bedhiaf-Romdhani

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The sheep (Ovis aries) was domesticated, approximately 11,000 years ago (YBP), in the Fertile Crescent from Asian Mouflon (Ovis Orientalis). The Northern African (NA) sheep is 7,000 years old, represents a remarkable diversity of sheep populations reared under traditional and low input farming systems (LIFS) over millennia. The majority of small ruminants in developing countries are encountered in low input production systems and the resilience of local communities in rural areas is often linked to the wellbeing of small ruminants. Regardless of the rich biodiversity encountered in sheep ecotypes there are four main sheep breeds in the country with 61,6 and 35.4 percents of Barbarine (fat tail breed) and Queue Fine de l’Ouest (thin tail breed), respectively. Phoenicians introduced the Barbarine sheep from the steppes of Central Asia in the Carthaginian period, 3000 years ago. The Queue Fine de l’Ouest is a thin-tailed meat breed heavily concentrated in the Western and the central semi-arid regions. The Noire de Thibar breed, involving mutton-fine wool producing animals, has been on the verge of extinction, it’s a composite black coated sheep breed found in the northern sub-humid region because of its higher nutritional requirements and non-tolerance of the prevailing harsher condition. The D'Man breed, originated from Morocco, is mainly located in the southern oases of the extreme arid ecosystem. A genetic investigation of Tunisian sheep breeds using a genome-wide scan of approximately 50,000 SNPs was performed. Genetic analysis of relationship between breeds highlighted the genetic differentiation of Noire de Thibar breed from the other local breeds, reflecting the effect of past events of introgression of European gene pool. The Queue Fine de l’Ouest breed showed a genetic heterogeneity and was close to Barbarine. The D'Man breed shared a considerable gene flow with the thin-tailed Queue Fine de l'Ouest breed. Native small ruminants breeds, are capable to be efficiently productive if essential ingredients and coherent breeding schemes are implemented and followed. Assessing the status of genetic variability of native sheep breeds could provide important clues for research and policy makers to devise better strategies for the conservation and management of genetic resources.

Keywords: sheep, farming systems, diversity, SNPs.

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Authors: Andre Wittenborn, Jarek Krajewski

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Trauma-related sadness in speech can alter the voice in several ways. The generation of non-linear aerodynamic phenomena within the vocal tract is crucial when analyzing trauma-influenced speech production. They include non-laminar flow and formation of jets rather than well-behaved laminar flow aspects. Especially state-space reconstruction methods based on chaotic dynamics and fractal theory have been suggested to describe these aerodynamic turbulence-related phenomena of the speech production system. To extract the non-linear properties of the speech signal, we used the time delay embedding method to reconstruct from a scalar time series (reconstructed phase space, RPS). This approach results in the extraction of 7238 Features per .wav file (N= 47, 32 m, 15 f). The speech material was prompted by telling about autobiographical related sadness-inducing experiences (sampling rate 16 kHz, 8-bit resolution). After combining these features in a support vector machine based machine learning approach (leave-one-sample out validation), we achieved a correlation of r = .41 with the well-established, self-report ground truth measure (RATS) of post-traumatic stress disorder (PTSD).

Keywords: non-linear dynamics features, post traumatic stress disorder, reconstructed phase space, support vector machine

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Authors: Athena Pedro, Gina Stockingt

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This study aimed to explore current management strategies used by Grade 1 educators working with learners presenting with Attention Deficit Hyperactivity Disorder (ADHD) symptoms in mainstream schools in the Western Cape. A sample of grade 1 educators were selected for the study. The sample comprised of twelve grades 1 educators from four local schools in the Western Cape. All twelve educators were individually interviewed and discussed the management strategies used in the classroom when working with learner presenting with ADHD symptoms. The data was analysed qualitatively with a focus in identifying, sorting and analyse meaning according to the subjective perception, understanding and behaviour of the grade 1 educators within their context. Furthermore, the social, cultural, political and physical environment of the participants were taken into consideration to explore and interpret the link between these elements. The findings were as follows: many educators felt that they did not receive enough training on Attention Deficit Hyperactivity Disorder, therefore lacking knowledge on how to apply management strategies to address this. Managing a diverse range of learners, lack of resources, lack of parental involvement, lack of assistance in the classroom, as well as distracted and disorganised children posed as challenges for educators working with learners presenting with Attention Deficit Hyperactivity Disorder symptoms.

Keywords: ADHD, Grade 1 educators, Learners, Management strategies

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Authors: Rady A., Elsheshai A., Elsawy M., Nagui R.

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Background and Aim: Metabolic syndrome affect around 20% of general population , authors have incriminated antipsychotics as serious risk factor that may provoke such derangement. The aim of our study is to assess metabolic syndrome in patients presenting psychotic features (delusions and hallucinations) whether schizophrenia or mood disorder and compare results in terms of drug naïf, on medication and healthy control. Subjects and Methods: The study recruited 40 schizophrenic patients, half of them drug naïf and the other half on antipsychotics, 40 patients with mood disorder with psychotic features, half of them drug naïf and the other half on medication, 20 healthy control. Exclusion criteria were put in order to exclude patients having already endocrine or metabolic disorders that my interfere with results obtain to minimize confusion bias. Metabolic syndrome assessed by measuring parameters including weight, body mass index, waist circumference, triglyceride level, HDL, fasting glucose, fasting insulin and insulin resistance Results: No difference was found when comparing drug naïf to those on medication in both schizophrenic and psychotic mood disorder arms, schizophrenic patients whether on medication or drug naïf should difference with control group for fasting glucose, schizophrenic patients on medication also showed difference in insulin resistance compared to control group. On the other hand, patients with psychotic mood disorder whether drug naïf or on medication showed difference from control group for fasting insulin level. Those on medication also differed from control for insulin resistance Conclusion: Our study didn’t reveal difference in metabolic syndrome among patients with psychotic features whether on medication or drug naïf. Only patients with Psychotic features on medication showed insulin resistance. Schizophrenic patients drug naïf or on medication tend to show higher fasting glucose while psychotic mood disorder whether drug naïf or on medication tend to show higher fasting insulin. This study suggest that presence of psychotic features themselves regardless being on medication or not carries a risk for insulin resistance and metabolic syndrome. Limitation: This study is limited by number of participants and larger numbers in future studies should be included in order to extrapolate results. Cohort longitudinal studies are needed in order to evaluate such hypothesis.

Keywords: schizophrenia, metabolic syndrome, psychosis, insulin, resistance

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Authors: Nayra Martin-Key, Erich Graf, Wendy Adams, Graeme Fairchild

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Children and adolescents with Conduct Disorder (CD) have been shown to demonstrate impairments in emotion recognition, but it is currently unclear whether this deficit is related to specific emotions or whether it represents a global deficit in emotion recognition. An emotion recognition task with concurrent eye-tracking was employed to further explore this relationship in a sample of male and female adolescents with CD. Participants made emotion categorization judgements for presented dynamic and morphed static facial expressions. The results demonstrated that males with CD, and to a lesser extent, females with CD, displayed impaired facial expression recognition in general, whereas callous-unemotional (CU) traits were linked to specific problems in sadness recognition in females with CD. A region-of-interest analysis of the eye-tracking data indicated that males with CD exhibited reduced fixation times for the eye-region of the face compared to typically-developing (TD) females, but not TD males. Females with CD did not show reduced fixation to the eye-region of the face relative to TD females. In addition, CU traits did not influence CD subjects’ attention to the eye-region of the face. These findings suggest that the emotion recognition deficits found in CD males, the worst performing group in the behavioural tasks, are partly driven by reduced attention to the eyes.

Keywords: attention, callous-unemotional traits, conduct disorder, emotion recognition, eye-region, eye-tracking, sex differences

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Authors: Hong Nguyen Thi Hai, Ryota Konda, Dat Kieu Tuan, Cao Tran Thanh, Khang Phung Van, Hau Tran Tin, Harry Wu

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Melaleuca cajuputi is a moderately fast-growing species and considered as a multi-purpose tree as it provides fuelwood, piles and frame poles in construction, leaf essential oil and honey. It occurs in Australia, Papua New Guinea, and South-East Asia. M. cajuputi plantation can be harvested on 6-7 year rotations for wood products. Its timber can also be used for pulp and paper, fiber and particle board, producing quality charcoal and potentially sawn timber. However, most reported M. cajuputi breeding programs have been focused on oil production rather than wood production. In this study, breeding program of M. cajuputi aimed to improve wood production was examined by estimating genetic parameters for growth (tree height, diameter at breast height (DBH), and volume), stem form, stiffness (modulus of elasticity (MOE)), bark thickness and bark ratio in a half-sib family progeny trial including 80 families in the Mekong Delta of Vietnam. MOE is one of the key wood properties of interest to the wood industry. Non-destructive wood stiffness was measured indirectly by acoustic velocity using FAKOPP Microsecond Timer and especially unaffected by bark mass. Narrow-sense heritability for the seven traits ranged from 0.13 to 0.27 at age 7 years. MOE and stem form had positive genetic correlations with growth while the negative correlation between bark ratio and growth was also favorable. Breeding for simultaneous improvement of multiple traits, faster growth with higher MOE and reduction of bark ratio should be possible in M. cajuputi. Index selection based on volume and MOE showed genetic gains of 31 % in volume, 6 % in MOE and 13 % in stem form. In addition, heritability and age-age genetic correlations for growth traits increased with time and optimal early selection age for growth of M. cajuputi based on DBH alone was 4 years. Selected thinning resulted in an increase of heritability due to considerable reduction of phenotypic variation but little effect on genetic variation.

Keywords: acoustic velocity, age-age correlation, bark thickness, heritability, Melaleuca cajuputi, stiffness, thinning effect

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Authors: Fumiko Kojima, Shuji Fujimoto

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Anisakiasis is a disease caused by infection with an anisakid larvae, mostly Anisakis simplex. The larvae commonly infect in marine fish and the disease is frequently reported in areas of the world where fish is consumed raw, lightly pickled or salted. In Japan, people have the habit of eating raw fish such as ‘sushi’ or ‘sashimi’, so they have more chance of infection with larvae of anisakid nematodes. There are three sibling species in A. simplex larvae, namely, A. simplex sensu stricto (Asss), A. pegreffii (Ap) and A. simplex C. It was revealed that Ap is dominant among the larvae from fish (Scomber japonics) in the Japan Sea side and Asss is dominant among those of the Pacific Ocean side conversely. Although anisakiasis has happened in Japan among both the Japan Sea side area and the Pacific Ocean side area. The aim of this study was to investigate genetic variations between the siblings (Asss and Ap) and within the same sibling species by random amplified polymorphic DNA (RAPD) technique. In order to investigate the genetic difference among the each A. simplex larvae, we used RAPD technique to differentiate individuals of A. simplex obtained from Scomber japonics fish those were caught in the Japan sea (Goto Islands in Nagasaki Prefecture) and the cost of Pacific Ocean (Kanagawa Prefecture). The RAPD patterns of the control DNA (Genus Raphidascaris) were markedly different from those of the A. simplex. There were differences in amplification patterns between Asss and Ap. The RAPD patterns for larvae obtained from fish of the same sea were somewhat different and variations were detected even among larvae from the same fish. These results suggest the considerable high genetic variability between Asss and Ap and the possible existence of genetic variation within the sibling species.

Keywords: Anisakiasis in Japan, Anisakis simplex, genomic identification, PCR-RAPD

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Authors: Wajid Mumtaz, Aamir Saeed Malik, Syed Saad Azhar Ali, Mohd Azhar Mohd Yasin

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In this paper, a technique based on electroencephalogram (EEG) analysis is presented, aiming for diagnosing major depressive disorder (MDD) among a potential population of MDD patients and healthy controls. EEG is recognized as a clinical modality during applications such as seizure diagnosis, index for anesthesia, detection of brain death or stroke. However, its usability for psychiatric illnesses such as MDD is less studied. Therefore, in this study, for the sake of diagnosis, 2 groups of study participants were recruited, 1) MDD patients, 2) healthy people as controls. EEG data acquired from both groups were analyzed involving inter-hemispheric asymmetry and composite permutation entropy index (CPEI). To automate the process, derived quantities from EEG were utilized as inputs to classifier such as logistic regression (LR) and support vector machine (SVM). The learning of these classification models was tested with a test dataset. Their learning efficiency is provided as accuracy of classifying MDD patients from controls, their sensitivities and specificities were reported, accordingly (LR =81.7 % and SVM =81.5 %). Based on the results, it is concluded that the derived measures are indicators for diagnosing MDD from a potential population of normal controls. In addition, the results motivate further exploring other measures for the same purpose.

Keywords: major depressive disorder, diagnosis based on EEG, EEG derived features, CPEI, inter-hemispheric asymmetry

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Authors: Yun-Hsiang Wang, Huai-Yi Chen, Kin Fong Lei

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Deoxyribonucleic acid (DNA) hybridization is a common technique used in genetic assay widely. However, the hybridization ratio and rate are usually limited by the diffusion effect. Here, microfluidic electrode platform producing electroosmosis generated by alternating current signal has been proposed to enhance the hybridization ratio and rate. The electrode was made of aurum fabricated by microfabrication technique. Thiol-modified oligo probe was immobilized on the electrode for specific capture of target, which is modified by fluorescent tag. Alternative electroosmosis can induce local microfluidic vortexes to accelerate DNA hybridization. This study provides a strategy to enhance the rate of DNA hybridization in the genetic assay.

Keywords: DNA hybridization, electroosmosis, electrical enhancement, hybridization ratio

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Authors: Gadia Duhita, Noorhana, Tjhin Wiguna

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Background: ADHD is the most common behavioural disorder in Indonesia. A stimulant, specifically methylphenidate, has been the first drug of choice for an ADHD treatment more than half a century. During the last decade, non-stimulant therapy (atomoxetine) for ADHD treatment has been developing. Growing evidence of its efficacy and the difference in its side effects profile to stimulant therapy have made methylphenidate’s position as a first line therapy for ADHD in need of re-evaluation. Both methylphenidate and atomoxetine have proven themselves against placebos in reducing core symptoms of ADHD. More recent studies directly compare the efficacy of methylphenidate and atomoxetine. Objective: The objective of this paper is to find out if either methylphenidate or atomoxetine is superior to another. This paper will assess the validity, importance, and applicability of current available evidence which compare the effectivity, efficacy, and safety of methylphenidate to atomoxetine for treatment in children and adolescents with ADHD. Method: The articles were searched for through the PubMed and Cochrane databases with “attention deficit/hyperactivity disorder OR adhd”, “methylphenidate”, and “atomoxetine” as the search keywords. Two articles which were relevant and eligible were chosen by using inclusion and exclusion criterias to be critically appraised. Result: The study by Hazel et al. showed that the efficacy of methylphenidate and atomoxetine are comparable for treatment in child and adolescent ADHD. The result shows 53.6% (95% CI 48.5%-58.4%) of the patient responded to the treatment by atomoxetine and 54.4% (95% CI 47.6%-61.1%) patients responded to methylphenidate, with the difference in proportion of–0.9% (95% CI –9.2%-7.5%). The other study by Hanwella et al. also showed that the efficacy of atomoxetine was not inferior to metilphenidate (SMD = 0.09, 95% CI –0.08-0.26) (Z = 1.06, p = 0.29). However, the sub-group analysis showed that OROS methylphenidate is more effective compared to atomoxetine (SMD = 0.32, 95% CI 0.12-0.53) (Z = 3.05, p < 0.02). Conclusion: The efficacy of methylphenidate and atomoxetine in reducing symptoms of ADHD is comparable. None is proven inferior to another. The choice of pharmacological tratment children and adolescents with ADHD should be made based on contraindication and the side effects profile of each drug.

Keywords: attention deficit/hyperactivity disorder, ADHD, atomoxetine, methylphenidate

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Authors: Matthew Stephenson

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We study the electrical conductivity of strongly disordered, strongly coupled quantum field theories, holographically dual to non-perturbatively disordered uncharged black holes. The computation reduces to solving a diffusive hydrostatic equation for an emergent horizon fluid. We demonstrate that a large class of theories in two spatial dimensions have a universal conductivity independent of disorder strength, and rigorously rule out disorder-driven conductor-insulator transitions in many theories. We present a (fine-tuned) axion-dilaton bulk theory which realizes the conductor-insulator transition, interpreted as a classical percolation transition in the horizon fluid. We address aspects of strongly disordered holography that can and cannot be addressed via mean-field modeling, such as massive gravity.

Keywords: theoretical physics, black holes, holography, high energy

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Authors: Daniela V. Bavaresco, Tamy Colonetti, Antonio Jose Grande, Francesc Colom, Joao Quevedo, Samira S. Valvassori, Maria Ines da Rosa

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Objective: Performed a systematic review and meta-analysis to evaluated the potential effect of the cyclo-oxygenases (Cox)-2 inhibitor Celecoxib adjunct treatment in Bipolar Disorder (BD), through of randomized controlled trials. Method: A search of the electronic databases was proceeded, on MEDLINE, EMBASE, Scopus, Cochrane Central Register of Controlled Trials (CENTRAL), Biomed Central, Web of Science, IBECS, LILACS, PsycINFO (American Psychological Association), Congress Abstracts, and Grey literature (Google Scholar and the British Library) for studies published from January 1990 to February 2018. A search strategy was developed using the terms: 'Bipolar disorder' or 'Bipolar mania' or 'Bipolar depression' or 'Bipolar mixed' or 'Bipolar euthymic' and 'Celecoxib' or 'Cyclooxygenase-2 inhibitors' or 'Cox-2 inhibitors' as text words and Medical Subject Headings (i.e., MeSH and EMTREE) and searched. The therapeutic effects of adjunctive treatment with Celecoxib were analyzed, it was possible to carry out a meta-analysis of three studies included in the systematic review. The meta-analysis was performed including the final results of the Young Mania Rating Scale (YMRS) at the end of randomized controlled trials (RCT). Results: Three primary studies were included in the systematic review, with a total of 121 patients. The meta-analysis had significant effect in the YMRS scores from patients with BD who used Celecoxib adjuvant treatment in comparison to placebo. The weighted mean difference was 5.54 (95%CI=3.26-7.82); p < 0.001; I2 =0%). Conclusion: The systematic review suggests that adjuvant treatment with Celecoxib improves the response of major treatments in patients with BD when compared with adjuvant placebo treatment.

Keywords: bipolar disorder, Cox-2 inhibitors, Celecoxib, systematic review, meta-analysis

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Authors: Wathig Hashim Mohamed Ibrahim

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Twenty Five polymorphic microsatellite out of 50 Loci were used to genotype some camel (Camelus dromedarius) types and subtypes in Sudan (Naylawi, Shanapla, Lahawi, Kinani, Rashaydi, Bani-Aamir, Annafi, Bishari Shallagyai and Bishari Arririt) and that from Qatar (OmmaniHJ, OmmaniKH, Majaheem, Pakistani Sindi, Pakistani Punjabi and Pakistani) and for comparative; one type from Somalia (Aarhou) and another from Chad (Spotted) were investigated. The highest number of alleles were 23 in Locus CVRL 01, and lowest were 2 in YWLL 59. The observed heterozygosity (Hobs) were 0.950 and 0.049 for VOLP08 and YWLL09, respectively, while the expected heterozygosity (HExp) were 0.915 and 0.362 for Locus VOLP67 and YWLL58, respectively, and the HExp mean was 0.7378. Polymorphic Information Content (PIC) ranged between 0.907 - 0.345 in Locus VOLP67 and YWLL58, and the PIC mean was 0.7002. The genetic distance ranged between 0.545 – 0.098 for Shallagyai (Bishari subtype) – Pakistani Sindi subtype and between Annafi - Rashaydi, respectively. The genetic distance between spotted and all types ranged between 0.223 with Arririt (Bishari subtype) and 0.463 with Punjabi (Pakistani subtype) that found in Qatar, while all types with Aarhou ranged between 0.215 for Arririt and 0.469 with Punjabi (Pakistani subtype). The dondrogram shows that there is a relationship between the genetic makeup and geographical distributions and also between the genetic makeup and phenotypic characteristic. Individual assignment was calculated, 46.62% correctly assigned and 46.87% quality index. Hardy Weinberg Equivalent (HWE) was also calculated. Key words: Camel, genotype, polymorphic microsatellite

Keywords: camel, genotype, polymorphic microsatellite, types and subtypes

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Authors: Riffat Iqbal, Sidra Ihsan, Andleeb Batool, Maryam Mukhtar

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Glaucoma is a gathering of optic neuropathies described by dynamic degeneration of retinal ganglionic cells. It is clinically and innately heterogenous illness containing a couple of particular forms each with various causes and severities. Primary open-angle glaucoma (POAG) is the most generally perceived kind of glaucoma. This study investigated the genetic association of single nucleotide polymorphisms (SNPs; rs10483727 and rs33912345) at the SIX1/SIX6 locus with primary open-angle glaucoma (POAG) in the Pakistani population. The SIX6 gene plays an important role in ocular development and has been associated with morphology of the optic nerve. A total of 100 patients clinically diagnosed with glaucoma and 100 control individuals of age over 40 were enrolled in the study. Genomic DNA was extracted by organic extraction method. The SNP genotyping was done by (i) PCR based restriction fragment length polymorphism (RFLP) and sequencing method. Significant genetic associations were observed for rs10483727 (risk allele T) and rs33912345 (risk allele C) with POAG. Hence, it was concluded that Six6 gene is genetically associated with pathogenesis of Glaucoma in Pakistan.

Keywords: genotyping, Pakistani population, primary open-angle glaucoma, SIX6 gene

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Authors: Halima Sadia Qureshi, Urooj Sadiq, Noshi Eram Zaman

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The goal of this study was to see how cognitive behavior hypnotherapy affected nonsuicidal self-injury. DSM 5 invites the researchers to explore the newly added condition under the chapter of conditions under further study named Nonsuicidal self-injury disorder. To date, no empirical sound intervention has been proven effective for NSSI as given in DSM 5. Nonsuicidal self-injury is defined by DSM 5 as harming one's self physically, without suicidal intention. Around 7.6% of teenagers are expected to fulfill the NSSI disorder criteria. 3 Adolescents, particularly university students, account for around 87 percent of self-harm studies. Furthermore, one of the risks associated with NSSI is an increased chance of suicide attempts, and in most cases, the cycle repeats again. 6 The emotional and psychological components of the illness might lead to suicide, either intentionally or unintentionally. 7 According to a research done at a Pakistani military hospital, over 80% of participants had no intention of committing suicide. Furthermore, it has been determined that improvements in NSSI prevention and intervention are necessary as a stand-alone strategy. The quasi-experimental study took place in Islamabad and Rawalpindi, Pakistan, from May 2019 to April 2020 and included students aged 18 to 25 years old from several institutions and colleges in the twin cities. According to the Diagnostic and Statistical Manual of Mental Disorders 5th edition, the individuals were assessed for >2 episodes without suicidal intent using the intentional self-harm questionnaire. The Clinician Administered Nonsuicidal Self-Injury Disorder Index (CANDI) was used to assess the individual for NSSI condition. Symptom checklist-90 (SCL-90) was used to screen the participants for differential diagnosis. Mclean Screening Instrument for Borderline Personality Disorder (MSI-BPD) was used to rule out the BPD cases. The selected participants, n=106 from the screening sample of 600, were selected. They were further screened to meet the inclusion and exclusion criteria, and the total of n=71 were split into two groups: intervention and control. The intervention group received cognitive behavior hypnotherapy for the next three months, whereas the control group received no treatment. After the period of three months, both the groups went through the post assessment, and after the three months’ period, follow-up assessment was conducted. The groups were evaluated, and SPSS 25 was used to analyse the data. The results showed that each of the two groups had 30 (50 percent) of the 60 participants. There were 41 males (68 percent) and 19 girls (32 percent) in all. The bulk of the participants were between the ages of 21 and 23. (48 percent). Self-harm events were reported by 48 (80 percent) of the pupils, and suicide ideation was found in 6 (ten percent). In terms of pre- and post-intervention values (d=4.90), post-intervention and follow-up assessment values (d=0.32), and pre-intervention and follow-up values (d=5.42), the study's effect size was good. The comparison of treatment and no-treatment groups revealed that treatment was more successful than no-treatment, F (1, 58) = 53.16, p.001. The results reveal that the treatment manual of CBH is effective for Nonsuicidal self-injury disorder.

Keywords: NSSI, nonsuicidal self injury disorder, self-harm, self-injury, Cognitive behaviour hypnotherapy, CBH

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Authors: Othman Elmahdy Othman, Agnés Germot, Daniel Petit, Muhammad Khodary, Abderrahman Maftah

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Recently, the control (D-loop) and cytochrome b (Cyt b) regions of mtDNA have received more attention due to their role in the genetic diversity and phylogenetic studies in different livestock which give important knowledge towards the genetic resource conservation. Studies based on sequencing of sheep mitochondrial DNA showed that there are five maternal lineages in the world for domestic sheep breeds; A, B, C, D and E. By using cytochrome B sequencing, we aimed to clarify the genetic affinities and phylogeny of six Egyptian sheep breeds. Blood samples were collected from 111 animals belonging to six Egyptian sheep breeds; Barki, Rahmani, Ossimi, Saidi, Sohagi and Fallahi. The total DNA was extracted and the specific primers were used for conventional PCR amplification of the cytochrome B region of mtDNA. PCR amplified products were purified and sequenced. The alignment of sequences was done using BioEdit software and DnaSP 5.00 software was used to identify the sequence variation and polymorphic sites in the aligned sequences. The result showed that the presence of 39 polymorphic sites leading to the formation of 29 haplotypes. The haplotype diversity in six tested breeds ranged from 0.643 in Rahmani breed to 0.871 in Barki breed. The lowest genetic distance was observed between Rahmani and Saidi (D: 1.436 and Dxy: 0.00127) while the highest distance was observed between Ossimi and Sohagi (D: 6.050 and Dxy: 0.00534). Neighbour-joining (Phylogeny) tree was constructed using Mega 5.0 software. The sequences of 111 analyzed samples were aligned with references sequences of different haplogroups; A, B, C, D and E. The phylogeny result showed the presence of four haplogroups; HapA, HapB, HapC and HapE in the examined samples whereas the haplogroup D was not found. The result showed that 88 out of 111 tested animals cluster with haplogroup B (79.28%), whereas 12 tested animals cluster with haplogroup A (10.81%), 10 animals cluster with haplogroup C (9.01%) and one animal belongs to haplogroup E (0.90%).

Keywords: phylogeny, genetic biodiversity, MtDNA, cytochrome B, Egyptian sheep

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Authors: Mudrika Singhal

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The research paper is basically about how the genetically modified organisms evolved and their significance in today’s world. It also highlights about the various pros and cons of the genetically modified organisms and the progress of India in this field. A genetically modified organism is the one whose genetic material has been altered using genetic engineering techniques. They have a wide range of uses such as transgenic plants, genetically modified mammals such as mouse and also in insects and aquatic life. Their use is rooted back to the time around 12,000 B.C. when humans domesticated plants and animals. At that humans used genetically modified organisms produced by the procedure of selective breeding and not by genetic engineering techniques. Selective breeding is the procedure in which selective traits are bred in plants and animals and then are domesticated. Domestication of wild plants into a suitable cultigen is a well known example of this technique. GMOs have uses in varied fields ranging from biological and medical research, production of pharmaceutical drugs to agricultural fields. The first organisms to be genetically modified were the microbes because of their simpler genetics. At present the genetically modified protein insulin is used to treat diabetes. In the case of plants transgenic plants, genetically modified crops and cisgenic plants are the examples of genetic modification. In the case of mammals, transgenic animals such as mice, rats etc. serve various purposes such as researching human diseases, improvement in animal health etc. Now coming upon the pros and cons related to the genetically modified organisms, pros include crops with higher yield, less growth time and more predictable in comparison to traditional breeding. Cons include that they are dangerous to mammals such as rats, these products contain protein which would trigger allergic reactions. In India presently, group of GMOs include GM microorganisms, transgenic crops and animals. There are varied applications in the field of healthcare and agriculture. In the nutshell, the research paper is about the progress in the field of genetic modification, taking along the effects in today’s world.

Keywords: applications, mammals, transgenic, engineering and technology

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Authors: Hanieh Tarbiat Khosrowshahi, Mojtaba Shakeri

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Wireless Sensor Networks (WSNs) consist of a set of sensor nodes with limited capability. WSNs may suffer from multiple node failures when they are exposed to harsh environments such as military zones or disaster locations and lose connectivity by getting partitioned into disjoint segments. Relay nodes (RNs) are alternatively introduced to restore connectivity. They cost more than sensors as they benefit from mobility, more power and more transmission range, enforcing a minimum number of them to be used. This paper addresses the problem of RN placement in a multiple disjoint network by developing a genetic algorithm (GA). The problem is reintroduced as the Steiner tree problem (which is known to be an NP-hard problem) by the aim of finding the minimum number of Steiner points where RNs are to be placed for restoring connectivity. An upper bound to the number of RNs is first computed to set up the length of initial chromosomes. The GA algorithm then iteratively reduces the number of RNs and determines their location at the same time. Experimental results indicate that the proposed GA is capable of establishing network connectivity using a reasonable number of RNs compared to the best existing work.

Keywords: connectivity restoration, genetic algorithms, multiple-node failure, relay nodes, wireless sensor networks

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Authors: Aminu Bashir Mohammad, Agwu Ezera, Abdulrazaq G. Habib, Garba Iliyasu

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Background: Drug resistance tuberculosis (DR-TB) continues to be a challenge in developing countries with poor resources. Routine screening for primary DR-TB before commencing treatment is not done in public hospitals in Nigeria, even with the large body of evidence that shows a high prevalence of primary DR-TB. Data on drug resistance and its genetic determinant among follow up TB patients is lacking in Nigeria. Hence the aim of this study was to determine the prevalence and genetic determinant of drug resistance among follow up TB patients in a tertiary hospital in Nigeria. Methods: This was a cross-sectional laboratory-based study conducted on 384 sputum samples collected from consented follow-up tuberculosis patients. Standard microbiology methods (Zeil-Nielsen staining and microscopy) and PCR (Line Probe Assay)] were used to analyze the samples collected. Person’s Chi-square was used to analyze the data generated. Results: Out of three hundred and eighty-four (384) sputum samples analyzed for mycobacterium tuberculosis (MTB) and DR-TB twenty-five 25 (6.5%) were found to be AFB positive. These samples were subjected to PCR (Line Probe Assay) out of which 18(72%) tested positive for DR-TB. Mutations conferring resistance to rifampicin (rpo B) and isoniazid (katG, and or inhA) were detected in 12/18(66.7%) and 6/18(33.3%), respectively. Transmission dynamic of DR-TB was not significantly (p>0.05) dependent on demographic characteristics. Conclusion: There is a need to strengthened the laboratory capacity for diagnosis of TB and drug resistance testing and make these services available, affordable, and accessible to the patients who need them.

Keywords: drug resistance tuberculosis, genetic determinant, intensive phase, Nigeria

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Authors: Rabson Banda

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This abstract delves into the transformative journey of Rabson Banda, a visionary leader in Zambia who has harnessed the power of photovoice, mental fitness, and entrepreneurship to combat substance use disorders in the face of limited job opportunities in Africa. Rabson's personal battle with alcohol-induced disorder serves as the foundation for his pioneering work in establishing Elevated Initiatives, a grassroots organization dedicated to empowering individuals struggling with addiction through innovative approaches. Through the lens of photovoice, Rabson Banda amplifies the voices of those affected by substance abuse, providing a platform for self-expression and healing. By intertwining mental fitness techniques and entrepreneurial skills, he equips individuals with the tools needed to break free from the cycle of addiction and chart a new path toward holistic wellness and economic independence. Rabson Banda's story embodies resilience, hope, and the unwavering belief in the transformative power of community-driven initiatives. His work not only addresses the immediate challenges of substance use disorders but also addresses the root causes of addiction by advocating for increased job opportunities and economic empowerment in Zambia and across Africa for decent job creation and Entrepreneurship: A Lived Experience of Alcohol-Induced Disorder and Recovery in Zambia.

Keywords: mental fitness, entrepreneurship, photovoice, descent jobs

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Authors: Jun Su Park, Byung Kwan Oh, Jin Woo Hwang, Yousok Kim, Hyo Seon Park

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For the structural safety, the maximum stress calculated from the stress distribution of a structure is widely used. The stress distribution can be estimated by deformed shape of the structure obtained from measurement. Although the estimation of stress is strongly affected by the location and number of sensing points, most studies have conducted the stress estimation without reasonable basis on sensing plan such as the location and number of sensors. In this paper, an optimal sensing technique for estimating the stress distribution is proposed. This technique proposes the optimal location and number of sensing points for a 2-D frame structure while minimizing the error of stress distribution between analytical model and estimation by cubic smoothing splines using genetic algorithm. To verify the proposed method, the optimal sensor measurement technique is applied to simulation tests on 2-D steel frame structure. The simulation tests are performed under various loading scenarios. Through those tests, the optimal sensing plan for the structure is suggested and verified.

Keywords: genetic algorithm, optimal sensing, optimizing sensor placements, steel frame structure

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Authors: Horesh Reinman Netta

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Objectives: To examine the relationship between stressful life events and recurrent major depressive disorders Methods: Three groups of 50 subjects were assessed. One group had a recurrent major depressive disorder with melancholic features; the second group met the criteria for borderline personality disorder, and the third consisted of healthy controls. The Structured Clinical Interview for AXIS I DSM-IV Disorders sand the Structured Clinical Interview for AXIS II DSM-IV Disorders were used for diagnosis. The Israel Psychiatric Epidemiology Research Interview (IPERI) Life Event Scale and the Coddington Life Events Schedule (CLES) were used to measure life events which were confirmed with a confirmatory semi-structured interview. The Beck Depression Inventory and the Satisfaction from Life scales were also administered. Results : The total number of loss-related events in childhood and in the year preceding the first episode was significantly higher in the affective disorder group than in the two control groups. Total number of LE, uncontrolled and independent events were also more common in the depressed patients in the year preceding the first episode. No category of SLE was differentiated among any of the three groups during any period of time following the first depressive episode. Conclusions: SLE play an important role in the onset of affective disorders. There appear to be specific kinds of SLE occurring in childhood and in the year preceding a first episode that have particular significance. SLE may have a lesser role in the maintenance of this illness.

Keywords: modd dosorders, recurrent depression, stress, life events

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Authors: Sharifah Mousli, Sona Taheri, Jiayuan He

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Autism spectrum disorder (ASD) is a complex developmental condition involving persistent difficulties with social communication, restricted interests, and repetitive behavior. The challenges associated with ASD can interfere with an affected individual’s ability to function in social, academic, and employment settings. Although there is no effective medication known to treat ASD, to our best knowledge, early intervention can significantly improve an affected individual’s overall development. Hence, an accurate diagnosis of ASD at an early phase is essential. The use of machine learning approaches improves and speeds up the diagnosis of ASD. In this paper, we focus on the application of unsupervised clustering methods in ASD as a large volume of ASD data generated through hospitals, therapy centers, and mobile applications has no pre-existing labels. We conduct a comparative analysis using seven clustering approaches such as K-means, agglomerative hierarchical, model-based, fuzzy-C-means, affinity propagation, self organizing maps, linear vector quantisation – as well as the recently developed optimization-based clustering (COMSEP-Clust) approach. We evaluate the performances of the clustering methods extensively on real-world ASD datasets encompassing different age groups: toddlers, children, adolescents, and adults. Our experimental results suggest that the COMSEP-Clust approach outperforms the other seven methods in recognizing ASD with well-separated clusters.

Keywords: autism spectrum disorder, clustering, optimization, unsupervised machine learning

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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: Dongjoo Chin

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The purpose of this study was to investigate the effectiveness of an Early Intensive Behavioral Intervention (EIBI) program on infants with autism spectrum disorder (ASD) and to explore the factors predicting the effectiveness of the program, focusing on the infant's age, language ability, problem behaviors, and parental stress. 19 pairs of infants aged between 2 and 5 years who have had been diagnosed with ASD, and their parents participated in an EIBI program at a clinic providing evidence-based treatment based on applied behavior analysis. The measurement tools which were administered before and after the EIBI program and compared, included PEP-R, a curriculum evaluation, K-SIB-R, K-Vineland-II, K-CBCL, and PedsQL for the infants, and included PSI-SF and BDI-II for the parents. Statistical analysis was performed using a sample t-test and multiple regression analysis and the results were as follows. The EIBI program showed significant improvements in overall developmental age, curriculum assessment, and quality of life for infants. There was no difference in parenting stress or depression. Furthermore, measures for both children and parents at the start of the program predicted neither PEP-R nor the degree of improvement in curriculum evaluation measured six months later at the end of the program. Based on these results, the authors suggest future directions for developing an effective intensive early intervention (EIBI) program for infants with ASD in Korea, and discuss the implications and limitations of this study.

Keywords: applied behavior analysis, autism spectrum disorder, early intensive behavioral intervention, parental stress

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Authors: Saule Mussabekova

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Forensic investigation of human teeth plays an important role in detection of crime, particularly in cases of personal identification of dead bodies changed by putrefactive processes or skeletonized bodies as well as when finding bodies of unknown persons. 152 teeth have been investigated; 85 of them belonged to men and 67 belonged to women taken from alive people of different age. Teeth have been investigated after extraction. Two types of teeth have been investigated: teeth without integrity violation of dental crown and teeth with different degrees of its violation. Additionally, 517 teeth have been investigated that were collected from dead bodies, 252 of which belonged to women and 265 belonged to men, whatever the cause of death with death limitation from 1 month to 20 years. Isohemagglutinating serums and Coliclons of different series have been used for the research of tooth-group specificity by serological methods according to the AB0 system. Standard protocols of different techniques have been used for DNA purification from teeth (by reagent Chelex 100 produced by Bio-Rad using reagent kit 'DNA IQTM System' produced by Promega company (USA) and using columns 'QIAamp DNA Investigator Kit' produced by Qiagen company). Results of comparative forensic investigation of human teeth using serological and molecular genetic methods have shown that use of serological methods for forensic identification is sensible only in cases of preselection prior to the next molecular genetic investigation as well as in cases of impossibility of corresponding genetic investigation for different objective reasons. A number of advantages of methods of molecular genetics in the dental investigation have been marked, particularly in putrefactive changes, in personal identification. Key moments of modern condition of personal identification have been reflected according to dental state. Prospective directions of advance preparation of material have been emphasized for identification of teeth in forensic practice.

Keywords: dental state, forensic identification, molecular genetic analysis, teeth

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