Search results for: complex genetic disorder

Authors: Bui Phuong Linh, Yuki Sakakibara, Ryuto Tanaka, Elizabeth H. Pigney, Taishi Hashiguchi

Abstract:

Non-alcoholic steatohepatitis (NASH) is a chronic liver disease, often associated with type II diabetes, which sometimes progresses to more serious conditions such as liver fibrosis and hepatocellular carcinoma (HCC). NASH has become an important health problem worldwide, buttherapeutic agents for NASH have not yet been approved, and animal models with high clinical correlation are required. TheSTAM™ mouse shows the same pathological progression as human NASH patients and has been widely used for both drug efficacy and basic research, such as lipid profiling and gut microbiota research. In this study, we analyzed the RNA-seq data of STAM™mice at each pathological stage (steatosis, steatohepatitis, liver fibrosis, and HCC) and examined the clinical correlation at the genetic level. NASH was induced in male mice by a single subcutaneous injection of 200 µg streptozotocin solution 2 days after birth and feeding with high fat dietafter 4 weeks of age. The mice were sacrificed and livers collected at 6, 8, 10, 12, 16, and 20 weeks of age. For liver samples, the left lateral lobe was snap frozen in liquid nitrogen and stored at -80˚C for RNA-seq analysis. Total RNA of the cells was isolated using RNeasy mini kit. The gene expression of the canonical pathways in NASH progression from steatosis to hepatocellular carcinoma were analyzed, such as immune system process, oxidation-reduction process, lipid metabolic process. Moreover, since it has been reported that genetic traits are involved in the development of NASH-HCC, we next analyzed the genetic mutations in the STAM™mice. The number of individuals showing mutations in Mtorinvolved in Insulin signaling increases as the disease progresses, especially in the liver cancer phase. These results indicated a clinical correlation of gene profiles in the STAM™mouse.

Keywords: steatosis, non-alcoholic steatohepatitis, fibrosis, hepatocellular carcinoma, RNA-seq

Procedia PDF Downloads 156

Authors: Konstantin S. Vainutis, Mark E. Andreev, Anastasia N. Voronova, Mikhail Yu. Shchelkanov

Abstract:

Introduction: The trematodes from the family Cyclocoelidae (cyclocoelids) belong to the superfamily Echinostomatoidea infecting air sacs and trachea of wild birds. At present, the family Cyclocoelidae comprises nine valid genera in three subfamilies: Cyclocoelinae (type taxon), Haematotrephinae, and Typhlocoelinae. To our best knowledge, in this study, molecular genetic methods were used for the first time for studying cyclocoelids from the Russian Far East. Here we provide the data on the morphology and phylogeny of cyclocoelids from gadwall from the Russian Far East. The morphological and genetic data obtained for cyclocoelids indicated the necessity to revise the previously proposed classification within the family Cyclocoelidae. Objectives: The first objective was performing the morphological study of cyclocoelids found in M. strepera from the Russian Far East. The second objective is to reconstruct the phylogenetic relationships of the studied trematodes with other cyclocoelids using the 28S gene. Material and methods: During the field studies in the Khasansky district of the Primorsky region, 21 cyclocoelids were recovered from the air sacs of a single gadwall Mareca strepera. Seven samples of cyclocoelids were overstained in alum carmine, dehydrated in a graded ethanol series, cleared in clove oil, and mounted in Canada balsam. Genomic DNA was extracted from four cyclocoelids using the alkaline lysis method HotShot. The 28S rDNA fragment was amplified using the forward primer Digl2 and the reverse primer 1500R. Results: According to morphological features (ovary intratesticular, forming a triangle with the testes), the studied worms belong to the subfamily Cyclocoelinae Stossich, 1902. In particular, the highest morphological similarity was observed in relation to the trematodes of the genus Cyclocoelum Brandes, 1892 – genital pores are pharyngeal. However, the genetic analysis has shown significant discrepancies between the trematodes studied regarding the genus Cyclocoelum. On the phylogenetic tree, these trematodes took the sister position in relation to the genus Morishitium (previously considered in the subfamily Szidatitrematinae). Conclusion: Based on the results of the morphological and genetic studies, cyclocoelids isolated from Mareca strepera are suggested to be described in the previously unknown genus and differentiated from the type genus Cyclocoelum of the type subfamily Cyclocoelinae. Considering the available molecular data, including described cyclocoelids, the family Cyclocoelidae comprises ten valid genera in the three subfamilies mentioned above.

Keywords: new species, trematoda, phylogeny, cyclocoelidae

Procedia PDF Downloads 851

Authors: Vladimíra Čavojová, Eva Ballová Mikušková

Abstract:

In this study we tried to replicate the unconscious thought advantage (UTA), which states that complex decisions are better handled by unconscious thinking. We designed an experiment in e-prime using similar material as the original study (choosing between four different apartments, each described by 12 attributes). A total of 73 participants (52 women (71.2%); 18 to 62 age: M=24.63; SD=8.7) took part in the experiment. We did not replicate the results suggested by UTT. However, from the present study we cannot conclude whether this was the case of flaws in the theory or flaws in our experiment and we discuss several ways in which the issue of UTA could be examined further.

Keywords: decision making, unconscious thoughts, UTT, complex decisions

Procedia PDF Downloads 308

Authors: Jean Berger, Mohamed Barkaoui

Abstract:

Discrete search path planning in time-constrained uncertain environment relying upon imperfect sensors is known to be hard, and current problem-solving techniques proposed so far to compute near real-time efficient path plans are mainly bounded to provide a few move solutions. A new information-theoretic –based open-loop decision model explicitly incorporating false alarm sensor readings, to solve a single agent military logistics search-and-delivery path planning problem with anticipated feedback is presented. The decision model consists in minimizing expected entropy considering anticipated possible observation outcomes over a given time horizon. The model captures uncertainty associated with observation events for all possible scenarios. Entropy represents a measure of uncertainty about the searched target location. Feedback information resulting from possible sensor observations outcomes along the projected path plan is exploited to update anticipated unit target occupancy beliefs. For the first time, a compact belief update formulation is generalized to explicitly include false positive observation events that may occur during plan execution. A novel genetic algorithm is then proposed to efficiently solve search path planning, providing near-optimal solutions for practical realistic problem instances. Given the run-time performance of the algorithm, natural extension to a closed-loop environment to progressively integrate real visit outcomes on a rolling time horizon can be easily envisioned. Computational results show the value of the approach in comparison to alternate heuristics.

Keywords: search path planning, false alarm, search-and-delivery, entropy, genetic algorithm

Procedia PDF Downloads 360

Authors: Hamdan Hamood Aldumaini, Amjad Hussein Meqdam, Shamsaldeen kassim Ali, Hamed Mohammed Al-Yousefi, Haron Ahmed Al-Badawi

Abstract:

Background: Autism Spectrum Disorder (ASD) is a complex developmental challenge characterized by significant impairments in social interaction, communication, and behavioral patterns. Diagnosing ASD is challenging due to the lack of definitive medical tests, making early identification crucial. Therefore, increasing people's awareness about autism leads to early diagnosis and better prognosis. Objective: Our study aims to identify the initial symptoms prompting families to seek medical advice, determine the timeline between symptom onset and formal diagnosis, and explore methods for assessing the severity of ASD. Subjects and Methods: The study design employed was a descriptive cross-sectional design, which was suitable for the nature of the research. The data collection took place from March 5, 2022, to April 5, 2022, in Autism Rehabilitation Centers in Sana'a, Yemen. The study population consisted of all children who were diagnosed with autism and visited Autism rehabilitation centers in Sana'a city. The sample size was determined using Epi info version 7, and a total population of 587 autistic children attending the treatment was calculated, but only 250 children were included in this study (176 were male vs. 74 female). Result: In terms of sociability problems, it was found that a significant proportion of Yemeni children with autism experienced difficulties in this area. Specifically, 39.6% were classified as having severe sociability problems, while 28.4% were classified as having moderate issues. Sensory-cognitive awareness problems were also prevalent among the respondents, with 29.6% exhibiting severe difficulties in this domain. Health and physical problems were identified as significant concerns for Yemeni children with autism. The results indicated that 38.4% of the participants experienced severe health and physical issues. Identifying the first symptoms of autism is crucial for early detection and intervention. According to the study, speech delay was the most commonly observed first abnormality, reported by 71.3% of parents. Communication difficulties with others were the second most noticed abnormality, reported by 54.9% of parents. Repetitive movements were the third most commonly observed abnormality, reported by 18% of parents. Regarding the awareness among parents of ASD, our study showed that a significant portion (62%) of parents lack awareness about Autism Spectrum Disorder (ASD) and its causes. Surprisingly, a majority of these parents (over 80%) believe that autism is a curable condition. Additionally, more than half (51.2%) of the parents surveyed reported insufficient knowledge about medication options available to support therapy and rehabilitation for their autistic children.

Keywords: autism characteristics, rehabilitation centres, yemen, children

Procedia PDF Downloads 47

Authors: T. Varazi, M. Pruidze, M. Kurashvili, N. Gagelidze, M. Sutton

Abstract:

The complex phytoremediation approach given in the presented work implies joint application of natural sorbents, microorganisms, natural biosurfactants and plants. The approach is based on using the natural mineral composites, microorganism strains with high detoxification abilities, plants-phytoremediators and natural biosurfactants for enhancing the uptake of intermediates of pollutants by plant roots. In this complex strategy of phytoremediation technology, the sorbent serves to uptake and trap the pollutants and thus restrain their emission in the environment. The role of microorganisms is to accomplish the first stage biodegradation of organic contaminants. This is followed by application of a phytoremediation technology through purposeful planting of selected plants. Thus, using of different tools will provide restoration of polluted environment and prevention of toxic compounds’ dissemination from hotbeds of pollution for a considerable length of time. The main idea and novelty of the carried out work is the development of a new approach for the ecological safety. The wide spectrum of contaminants: Organochlorine pesticide – DDT, heavy metal –Cu, oil hydrocarbon (hexadecane) and wax have been used in this work. The presented complex biotechnology is important from the viewpoint of prevention, providing total rehabilitation of soil. It is unique to chemical pollutants, ecologically friendly and provides the control of erosion of soils.

Keywords: bioremediation, phytoremediation, pollutants, soil contamination

Procedia PDF Downloads 297

Authors: Mohammed Qutishat, Loai Abu Sharour, Kholoud Al-Damery, Ibtisam Al Harthy, Sulaiman Al-Sabei

Abstract:

Background: The 2019 coronavirus outbreak (COVID-19) has been declared a pandemic and has greatly affected both patients and healthcare workers. This study was conducted to explore the extent of posttraumatic stress disorder (PTSD) experiences among nurses as a result of the COVID-19 pandemic in Jordan. Method: This study used a cross-sectional study design with a convenience sampling approach. A sample of 259 participants completed the study questionnaires, including a sociodemographic questionnaire and the posttraumatic stress disorder checklist for DSM‐5, between May and July 2020. Result: The prevalence of PTSD among the study participants was 37.1%. The majority of study participants who exhibited PTSD symptoms presented the lowest level of PTSD (17%). The results indicated significant differences in overall COVID-19-related PTSD according to the participant’s age (F = 14.750, P = .000), gender (F = 30.340, P = .000), level of education (F = 51.983, P =.000), years of experience (F = 52.33, P = .000), place of work (F = 19.593, P = .000), and working position (F = 11.597, P = .000), as determined by one-way ANOVA. Conclusion: Nurses must be qualified and accredited to cope with reported PTSD cases and their consequences in relation to COVID-19 outbreaks. Close collaboration with a multidisciplinary team is required to recognise, manage, and encourage safety literacy among health care professionals and individuals diagnosed with or suspected of PTSD due to COVID-19 outbreaks or any other viral outbreaks.

Keywords: PTSD, nursing, coronavirus, pandemic, infectious disease

Procedia PDF Downloads 130

Authors: Abdullah Özbilgin, Oguzhan Kahraman, Mustafa Selçuk Alataş

Abstract:

Plant breeders have made and will continue to make important contributions toward meeting the need for more and better feed and food. The use of new techniques to modify the genetic makeup of plants to improve their properties has led to a new generation of crops, grains and their by-products for feed. Plant breeders have made and will continue to make important contributions toward meeting the need for more and better feed and food. The use of new techniques to modify the genetic makeup of plants to improve their properties has led to a new generation of crops, grains and their by-products for feed. The land area devoted to the cultivation of genetically modified (GM) plants has increased in recent years: in 2012 such plants were grown on over 170 million hectares globally, in 28 different countries, and are at resent used by 17.3 million farmers worldwide. The majority of GM plants are used as feed material for food-producing farm animals. Despite the facts that GM plants have been used as feed for years and a number of feeding studies have proved their safety for animals, they still give rise to emotional public discussion.

Keywords: crops, genetical modified plant(GM), plant, safety

Procedia PDF Downloads 565

Authors: Priscila A. Bernardes, Marcos E. Buzanskas, Luciana C. A. Regitano, Ricardo V. Ventura, Danisio P. Munari

Abstract:

The best linear unbiased predictor (BLUP) is a method commonly used in genetic evaluations of breeding programs. However, this approach can lead to higher inbreeding coefficients in the population due to the intensive use of few bulls with higher genetic potential, usually presenting some degree of relatedness. High levels of inbreeding are associated to low genetic viability, fertility, and performance for some economically important traits and therefore, should be constantly monitored. Unreliable pedigree data can also lead to misleading results. Genomic information (i.e., single nucleotide polymorphism – SNP) is a useful tool to estimate the inbreeding coefficient. Runs of homozygosity have been used to evaluate homozygous segments inherited due to direct or collateral inbreeding and allows inferring population selection history. This study aimed to evaluate runs of homozygosity (ROH) and inbreeding in a population of Nelore beef cattle. A total of 814 animals were genotyped with the Illumina BovineHD BeadChip and the quality control was carried out excluding SNPs located in non-autosomal regions, with unknown position, with a p-value in the Hardy-Weinberg equilibrium lower than 10⁻⁵, call rate lower than 0.98 and samples with the call rate lower than 0.90. After the quality control, 809 animals and 509,107 SNPs remained for analyses. For the ROH analysis, PLINK software was used considering segments with at least 50 SNPs with a minimum length of 1Mb in each animal. The inbreeding coefficient was calculated using the ratio between the sum of all ROH sizes and the size of the whole genome (2,548,724kb). A total of 25.711 ROH were observed, presenting mean, median, minimum, and maximum length of 3.34Mb, 2Mb, 1Mb, and 80.8Mb, respectively. The number of SNPs present in ROH segments varied from 50 to 14.954. The longest ROH length was observed in one animal, which presented a length of 634Mb (24.88% of the genome). Four bulls were among the 10 animals with the longest extension of ROH, presenting 11% of ROH with length higher than 10Mb. Segments longer than 10Mb indicate recent inbreeding. Therefore, the results indicate an intensive use of few sires in the studied data. The distribution of ROH along the chromosomes showed that chromosomes 5 and 6 presented a large number of segments when compared to other chromosomes. The mean, median, minimum, and maximum inbreeding coefficients were 5.84%, 5.40%, 0.00%, and 24.88%, respectively. Although the mean inbreeding was considered low, the ROH indicates a recent and intensive use of few sires, which should be avoided for the genetic progress of breed.

Keywords: autozygosity, Bos taurus indicus, genomic information, single nucleotide polymorphism

Procedia PDF Downloads 150

Authors: Khodi Morgan, Kasey Crowe, Amanda Morgan

Abstract:

Canadian High School Students' Attitudes & Objective: To survey Canadian high school students regarding their attitudes and perspectives towards people with disabilities and explore how age, gender, and personal experience with a disability may impact these views. Methods: A survey was developed using the standardized Attitude Toward Persons With Disability Scale as its base, with the addition of questions specifically about Autism and Attention Deficit Hyperactivity Disorder (ADHD). The survey also gathered information about the participant’s age and gender and whether or not they, or a close family member, had any disabilities. Participants were recruited at a public Canadian high school by fellow student researchers. Results: A total of 219 (N=219) students ranging from 13 - 19 years old participated in the study (m= 15.9 years of age). Gender was equally split, with 44% male, 42% female and 14% undeclared. Experience with a disability was common amongst participants, with 25% self-identifying as having a personal disability and 48% claiming to have a close family member with a disability. Exploratory trends indicated that females, people with self-identified disabilities, and people with close family members with disabilities trended towards having more positive attitudes toward persons with disabilities.

Keywords: disability, autism, ADHD, high school, adolescence, community research, acceptance

Procedia PDF Downloads 80

Authors: Ashraf Ward

Abstract:

Effect of calving interval on 305 day milk yield for first three lactations was studied in order to increase efficiency of selection schemes and to more efficiently manage Holstein cows that have been raised on small farms in Libya. Results obtained by processing data of 1476 cows, managed in 935 small scale farms, pointed out that current calving interval significantly affects on milk production for first three lactations (p<0.05). Preceding calving interval affected 305 day milk yield (p<0.05) in second lactation only. Linear regression model accounted for 20-25 % of the total variance of 305 day milk yield. Extension of calving interval over 420, 430, 450 days for first, second and third lactations respectively, did not increase milk production when converted to 305 day lactation. Stochastic relations between calving interval and calving age and month are moderated. Values of Pierson’s correlation coefficients ranged 0.38 to 0.69. Adjustment of milk production in order to reduce effect of calving interval on total phenotypic variance of milk yield is valid for first lactation only. Adjustment of 305 day milk yield for second and third lactations in order to reduce effects of factors “calving age and month” brings about, at the same time, elimination of calving interval effect.

Keywords: milk yield, Holstien, non genetic, calving

Procedia PDF Downloads 417

Authors: Franck Acho

Abstract:

This is a chronic metabolic disorder which is a fast-growing global problem with a huge social, health, and economic consequences. It is estimated that in 2010 there were globally 285 million people (approximately 6.4% of the adult population) suffering from this disease. This number is estimated to increase to 430 million in the absence of better control or cure. An ageing population and obesity are two main reasons for the increase. Diabetes mellitus is a chronic heterogeneous metabolic disorder with a complex pathogenesis. It is characterized by elevated blood glucose levels or hyperglycemia, which results from abnormalities in either insulin secretion or insulin action or both. Hyperglycemia manifests in various forms with a varied presentation and results in carbohydrate, fat, and protein metabolic dysfunctions. Long-term hyperglycemia often leads to various microvascular and macrovascular diabetic complications, which are mainly responsible for diabetes-associated morbidity and mortality. Hyperglycemia serves as the primary biomarker for the diagnosis of diabetes as well. Furthermore, it has been shown that almost 50% of the putative diabetics are not diagnosed until 10 years after onset of the disease, hence the real prevalence of global diabetes must be astronomically high. This study was conducted in a locality to access the level of knowledge, awareness and risk factors associated with people leaving with diabetes mellitus. A month before the screening was to be conducted, a health screening in some selected churches and on the local community radio as well as on relevant WhatsApp groups were advertised. A general health talk was delivered by the head of the screening unit to all attendees who were all educated on the procedure to be carried out with benefits and any possible discomforts after which the attendee’s consent was obtained. Evaluation of the participants for any leads to the diabetes selected for the screening was done by taking adequate history and physical examinations such as excessive thirst, increased urination, tiredness, hunger, unexplained weight loss, feeling irritable or having other mood changes, having blurry vision, having slow-healing sores, getting a lot of infections, such as gum, skin and vaginal infections. Out of the 94 participants the finding show that 78 were females and 16 were males, 70.21% of participants with diabetes were between the ages of 60-69yrs.The study found that only 10.63% of respondents declared a good level of knowledge of diabetes. Out of 3 symptoms of diabetes analyzed in this study, high blood sugar (58.5%) and chronic fatigue (36.17%) were the most recognized. Out of 4 diabetes risk factors analyzed in this study, obesity (21.27%) and unhealthy diet (60.63%) were the most recognized diabetes risk factors, while only 10.6% of respondents indicated tobacco use. The diabetic foot was the most recognized diabetes complication (50.57%), but some the participants indicated vision problems (30.8%),or cardiovascular diseases (20.21%) as diabetes complications.

Keywords: diabetes mellitus, non comunicable disease, general health talk, hyperglycemia

Procedia PDF Downloads 56

Authors: Haoyu Zhao, Qianshu Ma, Min Xie, Yunqi Huang, Yunjia Liu, Huan Song, Hongsheng Gui, Mingli Li, Qiang Wang

Abstract:

Rationale: Bipolar disorder (BD) and major depressive disorder (MDD), as severe chronic illnesses that restrict patients’ psychosocial functioning and reduce their quality of life, are both categorized into mood disorders. Emerging evidence has suggested that the reliability of self-rated health (SRH) was wellvalidated and that the risk of various health outcomes, including mortality and health care costs, could be predicted by SRH. Compared with other lengthy multi-item patient-reported outcomes (PRO) measures, SRH was proven to have a comparable predictive ability to predict mortality and healthcare utilization. However, to our knowledge, no study has been conducted to assess the association between SRH and hospitalization among people with mental disorders. Therefore, our study aims to determine the association between SRH and subsequent all-cause hospitalizations in patients with BD and MDD. Methods: We conducted a prospective cohort study on people with BD or MDD in the UK from 2006 to 2010 using UK Biobank touchscreen questionnaire data and linked administrative health databases. The association between SRH and 2-year all-cause hospitalizations was assessed using proportional hazard regression after adjustment for sociodemographics, lifestyle behaviors, previous hospitalization use, the Elixhauser comorbidity index, and environmental factors. Results: A total of 29,966 participants were identified, experiencing 10,279 hospitalization events. Among the cohort, the average age was 55.88 (SD 8.01) years, 64.02% were female, and 3,029 (10.11%), 15,972 (53.30%), 8,313 (27.74%), and 2,652 (8.85%) reported excellent, good, fair, and poor SRH, respectively. Among patients reporting poor SRH, 54.19% had a hospitalization event within 2 years compared with 22.65% for those having excellent SRH. In the adjusted analysis, patients with good, fair, and poor SRH had 1.31 (95% CI 1.21-1.42), 1.82 (95% CI 1.68-1.98), and 2.45 (95% CI 2.22, 2.70) higher hazards of hospitalization, respectively, than those with excellent SRH. Conclusion: SRH was independently associated with subsequent all-cause hospitalizations in patients with BD or MDD. This large study facilitates rapid interpretation of SRH values and underscores the need for proactive SRH screening in this population, which might inform resource allocation and enhance high-risk population detection.

Keywords: severe mental illnesses, hospitalization, risk prediction, patient-reported outcomes

Procedia PDF Downloads 161

Authors: Ebrahim Behrouzian Nejad, Rezvan Alipoor Sabzevari

Abstract:

Cloud computing systems are large-scale distributed systems, so that they focus more on large scale resource sharing, cooperation of several organizations and their use in new applications. One of the main challenges in this realm is resource allocation. There are many different ways to resource allocation in cloud computing. One of the common methods to resource allocation are economic methods. Among these methods, the auction-based method has greater prominence compared with Fixed-Price method. The double combinatorial auction is one of the proper ways of resource allocation in cloud computing. This method includes two phases: winner determination and resource allocation. In this paper a new method has been presented to determine winner in double combinatorial auction-based resource allocation using Imperialist Competitive Algorithm (ICA). The experimental results show that in our new proposed the number of winner users is higher than genetic algorithm. On other hand, in proposed algorithm, the number of winner providers is higher in genetic algorithm.

Keywords: cloud computing, resource allocation, double auction, winner determination

Procedia PDF Downloads 360

Authors: Akane Uda, Ami Tabata, Mi An, Misa Komaki, Ryotaro Ito, Mayumi Inoue, Takehiro Sasai, Yusuke Kusano, Toshihiro Kato

Abstract:

Early intervention is recommended for children with autism spectrum disorder (ASD), and an increasing number of children have received support and intervention before school age in recent years. In this study, we systematically reviewed preschool interventions focused on repetitive behaviors observed in children with ASD, which are often observed at younger ages. Inclusion criteria were as follows : (1) Child of preschool status (age ≤ 7 years) with a diagnosis of ASD (including autism, Asperger's, and pervasive developmental disorder) or a parent (caregiver) with a preschool child with ASD, (2) Physician-confirmed diagnosis of ASD (autism, Asperger's, and pervasive developmental disorder), (3) Interventional studies for repetitive behaviors, (4) Original articles published within the past 10 years (2012 or later), (5) Written in English and Japanese. Exclusion criteria were as follows: (1) Systematic reviews or meta-analyses, (2) Conference reports or books. We carefully scrutinized databases to remove duplicate references and used a two-step screening process to select papers. The primary screening included close scrutiny of titles and abstracts to exclude articles that did not meet the eligibility criteria. During the secondary screening, we carefully read the complete text to assess eligibility, which was double-checked by six members at the laboratory. Disagreements were resolved through consensus-based discussion. Our search yielded 304 papers, of which nine were included in the study. The level of evidence was as follows: three randomized controlled trials (level 2), four pre-post studies (level 4b), and two case reports (level 5). Seven articles selected for this study described the effectiveness of interventions. Interventions for repetitive behaviors in preschool children with ASD were categorized as five interventions that directly involved the child and four educational programs for caregivers and parents. Studies that directly intervened with children used early intensive intervention based on applied behavior analysis (Early Start Denver Model, Early Intensive Behavioral Intervention, and the Picture Exchange Communication System) and individualized education based on sensory integration. Educational interventions for caregivers included two methods; (a) education regarding combined methods and practices of applied behavior analysis in addition to classification and coping methods for repetitive behaviors, and (b) education regarding evaluation methods and practices based on children’s developmental milestones in play. With regard to the neurophysiological basis of repetitive behaviors, environmental factors are implicated as possible contributors. We assumed that applied behavior analysis was shown to be effective in reducing repetitive behaviors because analysis focused on the interaction between the individual and the environment. Additionally, with regard to educational interventions for caregivers, the intervention was shown to promote behavioral change in children based on the caregivers' understanding of the classification of repetitive behaviors and the children’s developmental milestones in play and adjustment of the person-environment context led to a reduction in repetitive behaviors.

Keywords: autism spectrum disorder, early intervention, repetitive behaviors, systematic review

Procedia PDF Downloads 141

Authors: L. A. Bosnea, T. Moschakis, C. Biliaderis

Abstract:

Two probiotic strains of Lactobacillus paracasei subsp. paracasei (E6) and Lactobacillus paraplantarum (B1), isolated from traditional Greek dairy products, were microencapsulated by complex coacervation using whey protein isolate (WPI, 3% w/v) and gum arabic (GA, 3% w/v) solutions mixed at different polymer ratio (1:1, 2:1 and 4:1). The effect of total biopolymer concentration on cell viability was assessed using WPI and GA solutions of 1, 3 and 6% w/v at a constant ratio of 2:1. Also, several parameters were examined for optimization of the microcapsule formation, such as inoculum concentration and the effect of ionic strength. The viability of the bacterial cells during heat treatment and under simulated gut conditions was also evaluated. Among the different WPI/GA weight ratios tested (1:1, 2:1, and 4:1), the highest survival rate was observed for the coacervate structures made with the ratio of 2:1. The protection efficiency at low pH values is influenced by both concentration and the ratio of the added biopolymers. Moreover, the inoculum concentration seems to affect the efficiency of microcapsules to entrap the bacterial cells since an optimum level was noted at less than 8 log cfu/ml. Generally, entrapment of lactobacilli in the complex coacervate structure enhanced the viability of the microorganisms when exposed to a low pH environment (pH 2.0). Both encapsulated strains retained high viability in simulated gastric juice (>73%), especially in comparison with non-encapsulated (free) cells (<19%). The encapsulated lactobacilli also exhibited enhanced viability after 10–30 min of heat treatment (65oC) as well as at different NaCl concentrations (pH 4.0). Overall, the results of this study suggest that complex coacervation with WPI/GA has a potential to deliver live probiotics in low pH food systems and fermented dairy products; the complexes can dissolve at pH 7.0 (gut environment), releasing the microbial cells.

Keywords: probiotic, complex coacervation, whey, encapsulation

Procedia PDF Downloads 297

Authors: Manahil Alfuraydan, Jodie Croxall, Lisa Hurt, Mike Kerr, Sinead Brophy

Abstract:

Autism Spectrum Disorder (ASD) is a developmental condition characterised by impairment in terms of social communication, social interaction, and a repetitive or restricted pattern of interest, behaviour, and activity. There is a significant delay between seeking help and a confirmed diagnosis of ASD. This may result in delay in receiving early intervention services, which are critical for positive outcomes. The long wait times also cause stress for the individuals and their families. Telehealth potentially offers a way of improving the diagnostic pathway for ASD. This review of the literature aims to examine which telehealth approaches have been used in the diagnosis and assessment of autism in children and adults, whether they are feasible and acceptable, and how they compare with face-to-face diagnosis and assessment methods. A comprehensive search of following databases- MEDLINE, CINAHL Plus with Full text, Business Sources Complete, Web of Science, Scopus, PsycINFO and trail and systematic review databases including Cochrane Library, Health Technology Assessment, Database of Abstracts and Reviews of Effectiveness and NHS Economic Evaluation was conducted, combining the terms of autism and telehealth from 2000 to 2018. A total of 10 studies were identified for inclusion in the review. This review of the literature found there to be two methods of using telehealth: (a) video conferencing to enable teams in different areas to consult with the families and to assess the child/adult in real time and (b) a video upload to a web portal that enables the clinical assessment of behaviours in the family home. The findings were positive, finding there to be high agreement in terms of the diagnosis between remote methods and face to face methods and with high levels of satisfaction among the families and clinicians. This field is in the very early stages, and so only studies with small sample size were identified, but the findings suggest that there is potential for telehealth methods to improve assessment and diagnosis of autism used in conjunction with existing methods, especially for those with clear autism traits and adults with autism. Larger randomised controlled trials of this technology are warranted.

Keywords: assessment, autism spectrum disorder, diagnosis, telehealth

Procedia PDF Downloads 129

Authors: Alexis Winfield, Carly Sugar, Barbara Fenesi

Abstract:

The COVID-19 pandemic uprooted regular routines forcing many children to learn from home, requiring many adults to work from home, and cutting families off from support outside the home. Public health restrictions associated with the pandemic caused widespread psychological distress, including depression and anxiety, increased fear, panic, and stress. These trends are particularly concerning for families raising neuroatypical children, such as those with Attention-Deficit Hyperactivity Disorder (ADHD), as these children are already more likely than their typically developing peers to experience comorbid mental health issues and to experience greater distress when required to stay indoors. Families with children who have ADHD are also at greater risk for experiencing heightened familial stress due to the challenges associated with managing ADHD behavioural symptoms, greater parental discord and divorce, and greater financial difficulties compared to other families. The current study engaged families comprised of at least one child diagnosed with ADHD to elucidate 1) the unique ways that the COVID-19 pandemic affected their mental health and 2) the specific barriers these families faced to maintaining optimal mental wellbeing. A total of 33 participants (15 parent-child dyads) engaged in virtual interviews. Content analysis revealed that the most frequently identified mental health effects for families were increased child anxiety and disconnectedness, as well as deteriorating parental mental health. The most frequently identified barriers to maintaining optimal mental well-being were lack of routine, lack of social interaction and social support, and uncertainty and fear. Findings underscore areas of need during times of large-scale social isolation, bring voice to the families of children with ADHD, and contribute to our understanding of the pandemic’s impact on the wellbeing of vulnerable families. This work contributes to a growing body of research aimed at creating safeguards to support mental wellbeing for vulnerable families during times of crisis.

Keywords: attention-deficit hyperactivity disorder, COVID-19, mental health, vulnerable families

Procedia PDF Downloads 291

Authors: Helena Baffoe

Abstract:

Context: In the United States, there have been significant advancements in programs aimed at improving the lives of individuals with mental health disorders and substance abuse problems. However, public attitudes and beliefs regarding these issues have not improved correspondingly. This study aims to explore the perceptions and beliefs surrounding mental health disorders and substance abuse in the context of data analytics in the field of social work. Research Aim: The aim of this research is to provide empirical evidence on the beliefs and perceptions regarding mental health disorders and substance abuse. Specifically, the study seeks to answer the question of whether being diagnosed with a mental disorder implies a diagnosis of substance abuse. Additionally, the research aims to analyze the specific roles that social workers can play in addressing individuals with mental disorders. Methodology: This research adopts a data-driven methodology, acquiring comprehensive data from the Substance Abuse and Mental Health Services Administration (SAMHSA). A noteworthy causal connection between mental disorders and substance abuse exists, a relationship that current literature tends to overlook critically. To address this gap, we applied logistic regression with an Instrumental Variable approach, effectively mitigating potential endogeneity issues in the analysis in order to ensure robust and unbiased results. This methodology allows for a rigorous examination of the relationship between mental disorders and substance abuse. Empirical Findings: The analysis of the data reveals that depressive, anxiety, and trauma/stressor mental disorders are the most common in the United States. However, the study does not find statistically significant evidence to support the notion that being diagnosed with these mental disorders necessarily implies a diagnosis of substance abuse. This suggests that there is a misconception among the public regarding the relationship between mental health disorders and substance abuse. Theoretical Importance: The research contributes to the existing body of literature by providing empirical evidence to challenge prevailing beliefs and perceptions regarding mental health disorders and substance abuse. By using a novel methodological approach and analyzing new US data, the study sheds light on the cultural and social factors that influence these attitudes.

Keywords: mental health disorder, substance abuse, empirical evidence, logistic regression with IV

Procedia PDF Downloads 65

Authors: Othman E. Othman, Hassan R. Darwish, Amira M. Nowier

Abstract:

Lactoferrin (LF) is a multifunctional protein involved in economically production traits like milk protein composition and skeletal structure in small ruminants including sheep and goat. So, LF gene - with its genetic polymorphisms associated with production traits - is considered a candidate genetic marker used in marker-assisted selection in goats. This study aimed to identify the different alleles and genotypes of this gene in three Egyptian goat breeds using PCR-SSCP (polymerase chain reaction-single-strand conformation polymorphism) and DNA sequencing. Genomic DNA was extracted from 120 animals belonging to Barki, Zaraibi, and Damascus goat breeds. Using specific primers, PCR amplified 247-bp fragments from exon 2 of LF goat gene. The PCR products were subjected to Single-Strand Conformation Polymorphism (SSCP) technique. The results showed the presence of two genotypes GG and AG in the tested animals. The frequencies of both genotypes varied among the three tested breeds with the highest frequencies of GG genotype in all tested goat breeds. The sequence analysis of PCR products representing these two detected genotypes declared the presence of an SNP (single nucleotide polymorphisms) substitution (G/A) among G and A alleles of this gene. The association between different LF genotypes and milk composition as well as body measurement was estimated. The comparison showed that the animals possess AG genotypes are superior over those with GG genotypes for different parameters of milk protein compositions and skeletal structures. This finding declared that allele A of LF gene is considered the promising marker for the productive traits in goat. In conclusion, the Egyptian goat breeds will be needed to enhance their milk protein composition and growth trait parameters through the increasing of allele A frequency in their herds depending on the superior production traits of this allele in goats.

Keywords: lLactoferrin gene, PCR-SSCP, SNPs, Egyptian goat

Procedia PDF Downloads 155

Authors: Pravin M. Tirmali, Sagar M. Mane, Snehal L. Kadam, Shriniwas B. Kulkarni

Abstract:

The La₂NiMnO₆ has been extensively studied for its ferromagnetic and magneto-dielectric properties. The La₂NiMnO₆ double perovskite is modified by partial substitution at B site by Fe transition metal. The La₂Ni₁₋ₓFeₓMnO₆ powder samples were synthesized by hydroxide co-precipitation method. The precipitate was dried and fine griended to form powder and pellet samples (2cm dia.) using hydraulic press. The powder and pellet samples of La₂Ni₁₋ₓFeₓMnO₆ were calcined at high temperature 1200°C to form a pure and stable composition. The nano polar regions (NPR) around Ni²⁺ or Mn⁴⁺ ions due to the cationic antisite disorder gives dielectric relaxation through their mutual interaction. The magneto-dielectric behavior is observed in substituted La₂NiMnO₆ shows Maxwell-Wagner and Debye relaxation due to grain boundary, interface and antisite defects. The magneto-dielectric properties of substituted La₂NiMnO₆ pellet sample were probed by Impedance spectroscopy measurements. The structural and magnetic investigations were also carried out by XRD, FESEM and VSM measurements of substituted La₂NiMnO₆ of powder samples. The synthesized La₂Ni₁₋ₓFeₓMnO₆ powder samples are polycrystalline and ferromagnetic in nature. The La₂Ni₁₋ₓFeₓMnO₆ samples exhibit ferromagnetic disorder with transition temperature near room temperature.

Keywords: La₂NiMnO₆, nano polar regions (NPR), antisite defects, magnetodielctric

Procedia PDF Downloads 214

Authors: Shahad Alkhalifah, Jonh Wright

Abstract:

Autism spectrum disorder (ASD) is a pervasive developmental disorder associated, for 42% to 88% of people with ASD, with sensory processing disorders. Sensory processing disorders (SPD) impact daily functioning, and it is, therefore, essential to be able to diagnose them accurately. Currently, however, there is no assessment tool available for the Saudi Arabia (SA) population that would cover a wider enough age range. Therefore, this study aimed to assess the psychometric properties of the Sensory Processing Measure Preschool-Home Form (SPM-P) when used in English, with a population of English-speaking Saudi participants. This was chosen due to time limitations and the urgency in providing practitioners with appropriate tools. Using a convenience sampling approach group of caregivers of typically developing (TD) children and a group of caregivers for children with ASD were recruited (N = 40 and N = 16, respectively), and completed the SPM-P Home Form. Participants were also invited to complete it again after two weeks for test-retest reliability, and respectively, nine and five agreed. Reliability analyses suggested some issues with a few items when used in the Saudi culture, and, along with interscale correlations, it highlighted concerns with the factor structure. However, it was also found that the SPM-P Home has good criterion-based validity, and it is, therefore, suggested that it can be used until a tool is developed through translation and cultural adaptation. It is also suggested that the current factor structure of SPM-P Home is reassessed using a large sample.

Keywords: autism, sensory, assessment, reliability, sensory processing dysfunction, preschool, validity

Procedia PDF Downloads 230

Authors: D. Leibman, D. Wolf, A. Gal-On

Abstract:

Viral diseases of tomato crops result in heavy yield losses and may even jeopardize the production of these crops. Classical tomato breeding for disease resistance against Tomato yellow leaf curl virus (TYLCV), leads to partial resistance associated with a number of recessive genes. To author’s best knowledge Pepino mosaic virus (PepMV) genetic resistance is not yet available. The generation of viral resistance by means of genetic engineering was reported and implemented for many crops, including tomato. Transgenic resistance against viruses is based, in most cases, on Post Transcriptional Gene Silencing (PTGS), an endogenous mechanism which destroys the virus genome. In this work, we developed immunity against PepMV and TYLCV in a tomato based on a PTGS mechanism. Tomato plants were transformed with a hairpin-construct-expressed transgene-derived double-strand-RNA (tr-dsRNA). In the case of PepMV, the binary construct harbored three consecutive fragments of the replicase gene from three different PepMV strains (Italian, Spanish and American), to provide resistance against a range of virus strains. In the case of TYLCV, the binary vector included three consecutive fragments of the IR, V2 and C2 viral genes constructed in a hairpin configuration. Selected transgenic lines (T0) showed a high accumulation of transgene siRNA of 21-24 bases, and T1 transgenic lines showed complete immunity to PepMV and TYLCV. Graft inoculation displayed immunity of the transgenic scion against PepMV and TYLCV. The study presents the engineering of resistance in tomato against two serious diseases, which will help in the production of high-quality tomato. However, unfortunately, these resistant plants have not been implemented due to public ignorance and opposition against breeding by genetic engineering.

Keywords: PepMV, PTGS, TYLCV, tr-dsRNA

Procedia PDF Downloads 134

Authors: Sergo Tsiramua, Sulkhan Sulkhanishvili, Elisabed Asabashvili, Lazare Kvirtia

Abstract:

The paper presents logical-probabilistic methods, models and algorithms for reliability assessment of complex systems, based on which a web application for structural analysis and reliability assessment of systems was created. The reliability assessment process included the following stages, which were reflected in the application: 1) Construction of a graphical scheme of the structural reliability of the system; 2) Transformation of the graphic scheme into a logical representation and modeling of the shortest ways of successful functioning of the system; 3) Description of system operability condition with logical function in the form of disjunctive normal form (DNF); 4) Transformation of DNF into orthogonal disjunction normal form (ODNF) using the orthogonalization algorithm; 5) Replacing logical elements with probabilistic elements in ODNF, obtaining a reliability estimation polynomial and quantifying reliability; 6) Calculation of weights of elements. Using the logical-probabilistic methods, models and algorithms discussed in the paper, a special software was created, by means of which a quantitative assessment of the reliability of systems of a complex structure is produced. As a result, structural analysis of systems, research and designing of optimal structure systems are carried out.

Keywords: Complex systems, logical-probabilistic methods, orthogonalization algorithm, reliability, weight of element

Procedia PDF Downloads 74

Authors: Yu-Ching Cheng, Yi-Kai Juan, Daniel Castro

Abstract:

Energy consumption of buildings has been an increasing concern for researchers and practitioners in the last decade. Sustainable building renovation can reduce energy consumption and carbon dioxide emissions; meanwhile, it also can extend existing buildings useful life and facilitate environmental sustainability while providing social and economic benefits to the society. School buildings are different from other designed spaces as they are more crowded and host the largest portion of daily activities and occupants. Strategies that focus on reducing energy use but also improve the students’ learning environment becomes a significant subject in sustainable school buildings development. A decision model is developed in this study to solve complicated and large-scale combinational, discrete and determinate problems such as school renovation projects. The task of this model is to automatically search for the most cost-effective (lower cost and higher quality) renovation strategies. In this study, the search process of optimal school building renovation solutions is by nature a large-scale zero-one programming determinate problem. A* is suitable for solving deterministic problems due to its stable and effective search process, and genetic algorithms (GA) provides opportunities to acquire global optimal solutions in a short time via its indeterminate search process based on probability. These two algorithms are combined in this study to consider trade-offs between renovation cost and improved quality, this decision model is able to evaluate current school environmental conditions and suggest an optimal scheme of sustainable school buildings renovation strategies. Through adoption of this decision model, school managers can overcome existing limitations and transform school buildings into spaces more beneficial to students and friendly to the environment.

Keywords: decision model, school buildings, sustainable renovation, genetic algorithm, A* search algorithm

Procedia PDF Downloads 119

Authors: Dewi Hapsari Ratna Muninggar, M. Rizal Martua Damanik

Abstract:

The purpose of this study was to develop a formulation of instant Indonesian traditional pancake (Surabi) based on composite rice and soybean flour and supplemented with Torbangun (Coleus amboinicus Lour) powder as an alternative snack for ADHD (Attention Deficit Hyperactivity Disorder) children. Completely randomised factorial design by two factors which were the ratio of composite rice and soybean flour (75:25; 70:30; 65:35) as well as the addition of Torbangun powder (3%; 5%; 7%) was used in this study. This study revealed that the best formula was instant surabi with 65:35 composite rice and soybean flour and 5% addition of Torbangun powder by considering hedonic test result, functional aspect and nutrients contribution. Then, both chemical and physical characteristics from the best formula of instant surabi were measured. Nutrients content of the chosen instant surabi per 100 g wet basis were 62.68 g moisture, 1.30 g ash, 6.81 g protein, 0.75 g fat, 28.47 g carbohydrate, 88.62 mg calcium, 4.14 mg iron, and 144 kcal energy while physical characteristics, such as water activity, cohesiveness, and hardness were 0.97, 0.569, 5582.2 g force consecutively. The results of this research suggested that instant surabi which can be possibly beneficial for ADHD children had 65:35 for rice and soybean flour ratio as well as 5% for the addition of Torbangun powder.

Keywords: ADHD children, instant surabi, soybean, torbangun

Procedia PDF Downloads 151

Authors: Vichayada Laohapiboolkul

Abstract:

Introduction: As the legal use of cannabis is being widely accepted throughout the world, medical cannabis has been explored in order to become an alternative cure for patients. Tetrahydrocannabinol (THC) and Cannabidiol (CBD) are natural cannabinoids found in the Cannabis plant which is proved to have positive treatment for various diseases and symptoms such as chronic pain, neuropathic pain, spasticity resulting from multiple sclerosis, reduce cancer-associated pain, autism spectrum disorders (ASD), dementia, cannabis and opioid dependence, psychoses/schizophrenia, general social anxiety, posttraumatic stress disorder, anorexia nervosa, attention-deficit hyperactivity disorder, and Tourette's disorder. Regardless of all the medical benefits, THC, if not metabolized, can lead to mild up to severe adverse drug reactions (ADR). The enzyme CYP2C19 was found to be one of the metabolizers of THC. However, the suballele CYP2C19*2 manifests as a poor metabolizer which could lead to higher levels of THC than usual, possibly leading to various ADRs. Objective: The aim of this study was to investigate the distribution of CYP2C19, specifically CYP2C19*2, genes in Thai patients treated with medical cannabis along with adverse drug reactions. Materials and Methods: Clinical data and EDTA whole blood for DNA extraction and genotyping were collected from patients for this study. CYP2C19*2 (681G>A, rs4244285) genotyping was conducted using the Real-time PCR (ABI, Foster City, CA, USA). Results: There were 42 medical cannabis-induced ADRs cases and 18 medical cannabis tolerance controls who were included in this study. A total of 60 patients were observed where 38 (63.3%) patients were female and 22 (36.7%) were male, with a range of age approximately 19 - 87 years. The most apparent ADRs for medical cannabis treatment were dry mouth/dry throat (76.7%), followed by tachycardia (70%), nausea (30%) and a few arrhythmias (10%). In the total of 27 cases, we found a frequency of 18 CYP2C19*1/*1 alleles (normal metabolizers, 66.7%), 8 CYP2C19*1/*2 alleles (intermediate metabolizers, 29.6%) and 1 CYP2C19*2/*2 alleles (poor metabolizers, 3.7%). Meanwhile, 63.6% of CYP2C19*1/*1, 36.3% and 0% of CYP2C19*1/*2 and *2/*2 in the tolerance controls group, respectively. Conclusions: This is the first study to confirm the distribution of CYP2C19*2 allele and the prevalence of poor metabolizer genes in Thai patients who received medical cannabis for treatment. Thus, CYP2C19 allele might serve as a pharmacogenetics marker for screening before initiating treatment.

Keywords: medical cannabis, adverse drug reactions, CYP2C19, tetrahydrocannabinol, poor metabolizer

Procedia PDF Downloads 103

Authors: Bremmy Laksono, Riksa Parikrama, Nur A. Rosyada, Willyanti Soewondo, Dadang S. H. Effendi, Eriska Rianti, Arlette S. Setiawan, Ine Sasmita, Risti S. Primanti, Erna Kurnikasari, Yunia Sribudiani

Abstract:

Down syndrome (DS) is a chromosomal abnormality characterised by complete 21 chromosome trisomy (classical or non-disjunction), or partial 21 chromosome trisomy (mosaicism), or chromosome rearrangement involving chromosome 21 (translocation). This study was carried out to describe the frequency of DS patients in a research institution in the city of Bandung, Indonesia. This descriptive study also provides a picture of the residential location and surrounding area of their dwellings. This study involved people with DS in various age whose chromosome were evaluated by conventional karyotyping method and FISH. Data were collected from 60 patients with DS from a total 150 patients during the period of September 2015 to August 2016 who were referred to Cell Culture and Cytogenetics Laboratory, Faculty of Medicine Universitas Padjadjaran, Indonesia. Results showed that the most common type of DS was non-disjunction (93%), followed by mosaicism (5%), no patient with translocation DS (0%), and a very rare type of tetrasomy 21 (2%). There were 39 males (65%) and 21 females (35%) of DS patient. Most of them live in suburban area beyond Bandung city (55%) while the rest live inside urban area of Bandung city (45%). They live mostly in dense area of greater Bandung area (65%) and only a few live in mid-density area (25%) and the least live in sparse populated area (10%). Their houses are mostly located in residential estate area (55%), nearby industrial area (37%), and around agricultural area (8%). Based on the study, it could be concluded that non-disjunction DS is the most common type. DS patients referred to the laboratory mostly came from dense residential zone in suburban area outside Bandung city. The low number of DS patients referred to the laboratory for chromosome analysis was the highlight to improve health service for people with genetic disorder. This study offered several information regarding area of DS patients’ residence and the condition of neighbourhood in Bandung city where they live as well.

Keywords: chromosome, descriptive, Down syndrome, prevalence

Procedia PDF Downloads 281

Authors: Atsuko Okazaki, Jurg Ott

Abstract:

Some genetic diseases (‘digenic traits’) are due to the interaction between two DNA variants. For example, certain forms of Retinitis Pigmentosa (a genetic form of blindness) occur in the presence of two mutant variants, one in the ROM1 gene and one in the RDS gene, while the occurrence of only one of these mutant variants leads to a completely normal phenotype. Detecting such digenic traits by genetic methods is difficult. A common approach to finding disease-causing variants is to compare 100,000s of variants between individuals with a trait (cases) and those without the trait (controls). Such genome-wide association studies (GWASs) have been very successful but hinge on genetic effects of single variants, that is, there should be a difference in allele or genotype frequencies between cases and controls at a disease-causing variant. Frequent pattern mining (FPM) methods offer an avenue at detecting digenic traits even in the absence of single-variant effects. The idea is to enumerate pairs of genotypes (genotype patterns) with each of the two genotypes originating from different variants that may be located at very different genomic positions. What is needed is for genotype patterns to be significantly more common in cases than in controls. Let Y = 2 refer to cases and Y = 1 to controls, with X denoting a specific genotype pattern. We are seeking association rules, ‘X → Y’, with high confidence, P(Y = 2|X), significantly higher than the proportion of cases, P(Y = 2) in the study. Clearly, generally available FPM methods are very suitable for detecting disease-associated genotype patterns. We use fpgrowth as the basic FPM algorithm and built a framework around it to enumerate high-frequency digenic genotype patterns and to evaluate their statistical significance by permutation analysis. Application to a published dataset on opioid dependence furnished results that could not be found with classical GWAS methodology. There were 143 cases and 153 healthy controls, each genotyped for 82 variants in eight genes of the opioid system. The aim was to find out whether any of these variants were disease-associated. The single-variant analysis did not lead to significant results. Application of our FPM implementation resulted in one significant (p < 0.01) genotype pattern with both genotypes in the pattern being heterozygous and originating from two variants on different chromosomes. This pattern occurred in 14 cases and none of the controls. Thus, the pattern seems quite specific to this form of substance abuse and is also rather predictive of disease. An algorithm called Multifactor Dimension Reduction (MDR) was developed some 20 years ago and has been in use in human genetics ever since. This and our algorithms share some similar properties, but they are also very different in other respects. The main difference seems to be that our algorithm focuses on patterns of genotypes while the main object of inference in MDR is the 3 × 3 table of genotypes at two variants.

Keywords: digenic traits, DNA variants, epistasis, statistical genetics

Procedia PDF Downloads 124

Authors: Madeline Foster

Abstract:

Since the COVID-19 pandemic, telehealth usage for the delivery of psychotherapy has surged. The evidence base evaluating the success of telehealth interventions continues to grow, with both benefits as well as potential risks identified. This study compared two recent randomized clinical trials (RCTs) from Sweden that looked at the effectiveness of Cognitive Behavioral Therapy (CBT) delivered via telehealth (TH) versus face-to-face (FTF) for individuals with Obsessive Compulsive Disorder (OCD). The papers had mixed results. The first paper by Aspvall and colleagues compared the effect of a therapist-supported, internet-delivered stepped-care CBT program for children and adolescents aged 7 to 17 with face-to-face CBT (2021). In Aspvall’s study, the control scored a mean Y-BOCS of 10.57 and the TH intervention group scored a mean Y-BOCS of 11.57. The mean difference (0.91) met the criteria for noninferiority (p = 0.03). The second study by Lundström and colleagues also compared therapist-supported, internet-based CBT with FTF CBT for the treatment of those with DSM-5-diagnosed OCD. Conversely, while Lundström’s study reported improved symptoms across all groups, at follow up the difference in symptom severity between FTF and TH was clinically significant, with 77% of FTF participants responding to treatment compared to only 45% of TH participants. Due to the methodological limitations of Lundström’s study, it was concluded that Aspvall’s paper made a stronger scientific argument.

Keywords: telehealth, Sweden, RCT, cognitive-behavioral therapy, obsessive-compulsive disorder

Procedia PDF Downloads 63