Search results for: disorder

Authors: Evangelia-Chrysanthi Kouklari, Evdokia Tagkouli, Vassiliki Ntre, Artemios Pehlivanidis, Stella Tsermentseli, Gerasimos Kolaitis, Katerina Papanikolaou

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Executive Function (EF) is a set of goal-directed cognitive skills essentially needed in problem-solving and social behavior. Developmental EF research has indicated that EF emerges early in life and marks dramatic changes before the age of 5. Research evidence has suggested that it may continue to develop up to adolescence as well, following the development of the prefrontal cortex. Over the last decade, research evidence has suggested distinguished domains of cool and hot EF, but traditionally the development of EF in Autism Spectrum Disorder (ASD) has been examined mainly with tasks that address the “cool” cognitive aspects of EF. Thus, very little is known about the development of “hot” affective EF processes and whether the cross-sectional developmental pathways of cool and hot EF present similarities in ASD. Cool EF has also been proven to have a strong correlation with Theory of Mind (ToM) in young and middle childhood in typical development and in ASD, but information about the relationship of hot EF to ToM skills is minimal. The present study’s objective was to explore the age-related changes of cool and hot EF in ASD participants from middle childhood to adolescence, as well as their relationship to ToM. This study employed an approach of cross-sectional developmental trajectories to investigate patterns of cool and hot EF relative to chronological age within ASD. Eighty-two participants between 7 and 16 years of age were recruited to undertake measures that assessed cool EF (working memory, cognitive flexibility, planning & inhibition), hot EF (affective decision making & delay discounting) and ToM (false belief and mental state/emotion recognition). Results demonstrated that trajectories of all cool EF presented age-related changes in ASD (improvements with age). With regards to hot EF, affective decision-making presented age-related changes, but for delay discounting, there were no statistically significant changes found across younger and older ASD participants. ToM was correlated only to cool EF. Theoretical implications are discussed as the investigation of the cross-sectional developmental trajectories of the broader EF (cool and hot domains) may contribute to better defining cognitive phenotypes in ASD. These findings highlight the need to examine developmental trajectories of both hot and cool EF in research and clinical practice as they may aid in enhancing diagnosis or better-informed intervention programs.

Keywords: autism spectrum disorder, developmental trajectories, executive function, theory of mind

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Authors: Shubham Dwivedi, Raghavender Medishetti, Rita Rani, Aarti Sevilimedu, Pushkar Kulkarni, Yogeeswari Perumal

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Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder of early onset, characterized by impaired sociability, cognitive function and stereotypies. There is a significant urge to develop and establish new animal models with ASD-like characteristics for better understanding of underlying mechanisms. The aim of the present study was to develop a cost and time effective zebrafish model with quantifiable parameters to facilitate mechanistic studies as well as high-throughput screening of new molecules for autism. Zebrafish embryos were treated with valproic acid and a battery of behavioral tests (anxiety, inattentive behavior, irritability and social impairment) was performed on larvae at 7th day post fertilization, followed by study of molecular markers of autism. This model shows a significant behavioural impairment in valproic acid treated larvae in comparison to control which was again supported by alteration in few marker genes and proteins of autism. The model also shows a rescue of behavioural despair with positive control drugs. The model shows robust parameters to study behavior, molecular mechanism and drug screening approach in a single frame. Thus we postulate that our 7 days zebrafish larval model for autism can help in high throughput screening of new molecules on autism.

Keywords: autism, zebrafish, valproic acid, neurodevelopment, behavioral assay

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Authors: Lindsey Carruthers, Alexandra Willis, Rory MacLean

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Introduction: It has been proposed that distractibility, a key diagnostic criterion of Attention Deficit Hyperactivity Disorder (ADHD), may be associated with higher creativity levels in some individuals. Anecdotal and empirical evidence has shown that ADHD is therefore beneficial to creative problem-solving, and the generation of new ideas and products. Previous studies have only used one or two measures of attention, which is insufficient given that it is a complex cognitive process. The current study aimed to determine in which ways performance on creative problem-solving tasks and a range of attention tests may be related, and if performance differs between adults with and without ADHD. Methods: 150 adults, 47 males and 103 females (mean age=28.81 years, S.D.=12.05 years), were tested at Edinburgh Napier University. Of this set, 50 participants had ADHD, and 100 did not, forming the control group. Each participant completed seven attention tasks, assessing focussed, sustained, selective, and divided attention. Creative problem-solving was measured using divergent thinking tasks, which require multiple original solutions for one given problem. Two types of divergent thinking task were used: verbal (requires written responses) and figural (requires drawn responses). Each task is scored for idea originality, with higher scores indicating more creative responses. Correlational analyses were used to explore relationships between attention and creative problem-solving, and t-tests were used to study the between group differences. Results: The control group scored higher on originality for figural divergent thinking (t(148)= 3.187, p< .01), whereas the ADHD group had more original ideas for the verbal divergent thinking task (t(148)= -2.490, p < .05). Within the control group, figural divergent thinking scores were significantly related to both selective (r= -.295 to -.285, p < .01) and divided attention (r= .206 to .290, p < .05). Alternatively, within the ADHD group, both selective (r= -.390 to -.356, p < .05) and divided (r= .328 to .347, p < .05) attention are related to verbal divergent thinking. Conclusions: Selective and divided attention are both related to divergent thinking, however the performance patterns are different between each group, which may point to cognitive variance in the processing of these problems and how they are managed. The creative differences previously found between those with and without ADHD may be dependent on task type, which to the author’s knowledge, has not been distinguished previously. It appears that ADHD does not specifically lead to higher creativity, but may provide explanation for creative differences when compared to those without the disorder.

Keywords: ADHD, attention, creativity, problem-solving

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Authors: Sophie Sakka, Rénald Gaboriau

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This paper describes a preliminary work aimed at setting a therapeutic support for autistic teenagers using three humanoid robots NAO shared by ASD (Autism Spectrum Disorder) subjects. The studied population had attended successfully a first year program, and were observed with a second year program using the robots. This paper focuses on the content and the effects of the second year program. The approach is based on a master puppet concept: the subjects program the robots, and use them as an extension for communication. Twenty sessions were organized, alternating ten preparatory sessions and ten robotics programming sessions. During the preparatory sessions, the subjects write a story to be played by the robots. During the robot programming sessions, the subjects program the motions to be realized to make the robot tell the story. The program was concluded by a public performance. The experiment involves five ASD teenagers aged 12-15, who had all attended the first year robotics training. As a result, a progress in voluntary and organized communication skills of the five subjects was observed, leading to improvements in social organization, focus, voluntary communication, programming, reading and writing abilities. The changes observed in the subjects general behavior took place in a short time, and could be observed from one robotics session to the next one. The approach allowed the subjects to draw the limits of their body with respect to the environment, and therefore helped them confronting the world with less anxiety.

Keywords: autism spectrum disorder, robot, therapeutic support, rob'autism

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Authors: Ruhollah Heydari Sheikh Ahmad, Sara Alaie Khoraem

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Introduction: Substance use disorder is conceptualized as a chronic relapsing condition where relapse is usually defined as the return to problematic substance use following treatment. An issue of great importance is the identification of the predictors of relapse and the development of treatments that may help prevent relapse. One of the strongest predictors of relapse is craving. The purpose of the present study was to study the effect of anxiety, anxiety sensitivity, and coping motives on craving. Materials and method: Participants (n=74) were male opiate users recruited from a semi-private clinic providing de-toxification and treatment services for substance users. Anxiety, anxiety sensitivity, coping motives and craving were assessed using relevant questionnaires. The addiction severity index was used to assess addiction severity. Results: All patients were methadone maintained and one year after detoxification, 36 patients (48.64%) relapsed. Stress and anxiety, anxiety sensitivity, addiction severity and coping motives predicted craving and relapse. Anxiety sensitivity specifically predicted early relapse. Conclusion: Substance use is a severe mental disorder, with high relapse rates. Substance users high in anxiety sensitivity are particularly prone to relapse during the first six months of treatment. Addiction severity and coping motives need to be taken into account when providing interventional services for substance users. Findings imply the significance of additional psychological attention to methadone maintained patients to prevent craving and relapse.

Keywords: anxiety sensitivity, coping motives, relapse, substance use craving

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Authors: Kimton Opiyo, Elliot M. Berry, Patil Karamchand, Barnabas K. Natamba

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Background: Postpartum depression (PPD) is a major psychiatric disorder that affects women soon after birth and in some cases, is a continuation of antenatal depression. Food insecurity (FI) and social support (SS) are known to be associated with major depressive disorder, and vice versa. This study was conducted to examine the interrelationships among FI, SS, and PPD among postpartum women in Gulu, a post-conflict region in Uganda. Methods: Cross-sectional data from postpartum women on depression symptoms, FI and SS were, respectively, obtained using the Center for Epidemiologic Studies-Depression (CES-D) scale, Individually Focused FI Access scale (IFIAS) and Duke-UNC functional social support scale. Standard regression methods were used to assess associations among FI, SS, and PPD. Results: A total of 239 women were studied, and 40% were found to have any PPD, i.e., with depressive symptom scores of ≥ 17. The mean ± standard deviation (SD) for FI score and SS scores were 6.47 ± 5.02 and 19.11 ± 4.23 respectively. In adjusted analyses, PPD symptoms were found to be positively associated with FI (unstandardized beta and standardized beta of 0.703 and 0.432 respectively, standard errors =0.093 and p-value < 0.0001) and negatively associated with SS (unstandardized beta and standardized beta of -0.263 and -0.135 respectively, standard errors = 0.111 and p-value = 0.019). Conclusions: Many women in this post-conflict region reported experiencing PPD. In addition, this data suggest that food security and psychosocial support interventions may help mitigate women’s experience of PPD or its severity.

Keywords: postpartum depression, food insecurity, social support, post-conflict region

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Authors: Asma Alsaleh, Kara Makara

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Autistic spectrum disorder (ASD) is a neurodevelopmental condition characterized by difficulties with communication and interaction. Besides presenting challenges for the ASD individual, the condition can entail negative outcomes for those who care for them, most often mothers. While this issue has been studied substantially in Western society, less is known about how mothers in the Arab world are affected by raising an ASD child. This study sought to gain insights into this area by assessing quality of life and stress in mothers with (n = 25) and without (n = 25) ASD children in Riyadh (Saudi Arabia) by using, respectively, the World Health Organization Quality of Life Assessment-BREF (WHOQOL-BREF) and the Parenting Stress Index-Short Form (PSI-SF). Data pertaining to income and education were also attained to investigate how socioeconomic factors interact with the above-mentioned variables. The analysis revealed that total stress scores and scores on the individual subscales of the PSI-SF were significantly higher for the mothers with an ASD child compared to those without an ASD child, though the opposite was true of quality of life scores. Moreover, increased income was associated with increased quality of life and decreased stress. While there were not main effects of education, there were interactions between education, whether children were ASD or non-ASD, and the outcome variables. These results suggest that mothers of ASD children in an Arab culture are at increased risk of negative outcomes relative to mothers of typically developing children, and, therefore, this study may act as a foundation for the delivery of interventions to assist mothers in this position.

Keywords: autism, education, income, mothers, quality of life, stress

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Authors: Naveed Ahmad Fazili

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More than 20 human diseases involve the fibrillation of a specific protein/peptide which forms pathological deposits at various sites. Hereditary lysozyme amyloidosis is a systemic disorder which mostly affects liver, spleen and kidney. This conformational disorder is featured by lysozyme fibril formation. In vivo lysozyme fibrillation was simulated under in vitro conditions using a strong denaturant GdHCl at 3M concentration. Sharp decline in the ANS fluorescence intensity compared to the partially unfolded states, almost 20 fold increase in ThT fluorescence intensity, increase in absorbance at 450 nm suggesting turbidity, negative ellipticity peak in the far-UVCD at 217 nm, red shift of 50 nm compared to the native state in congo red assay and appearance of a network of long rope like fibrils in TEM analysis suggested HEWL fibrillation. Anti-fibrillation potency of baicalein against the preformed fibrils of HEWL was investigated following ThT assay in which there was a dose dependent decrease in ThT fluorescence intensity compared to the fibrillar state of HEWL with the maximum effect observed at 150 μM baicalein concentration, loss of negative ellipticity peak in the far-UVCD region, dip in the Rayleigh scattering intensity and absorbance at 350 nm and 450 nm respectively together with a reduction in the density of fibrillar structure in TEM imaging. Thus, it could be suggested that baicalein could prove to be a positive therapeutics for hereditary human lysozyme amyloidosis.

Keywords: amyloid fibrils, baicalein, congo red, negative ellipticity, therapeutics

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Authors: Mohammad Muntasir Maruf, Muhammad Zillur Rahman Khan, Nasim Jahan, Md. Waziul Alam Chowdhury, Satparkash, Md. Nozrul Islam

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Background: Substance use disorders have become a major public health problem in Bangladesh. Objectives: The present study was designed to assess the pattern of substance use and factors related to it among the hospitalized patients. Methods: This was a cross-sectional study. All the patients who were admitted in a private drug de-addiction clinic in the capital city (Dhaka) of Bangladesh during 1 July-31 December, 2013 and diagnosed as a case of substance use disorder by applying Structured Clinical Interview for DSM- Clinician Version were enrolled in the study. Data were collected through face to face interview by a semi-structured questionnaire and the information was complemented by the case-notes. Study subjects were 105 in number. Data analysis was performed using Statistical Package for Social Sciences (SPSS). Results: Most (90.5%) of the respondents were male. The mean age of the respondents was 28.8 (± 8.0) years. Majority (91.4%) were poly-substance users. Most (27.6%) respondents used 3 types of substances. Smoking or inhalation was the route used by most (90.5%) respondents. More than three-fourth (81%) of the respondents used nicotine. Among the other substances, majority (79%) used opiates group, followed by cannabinoids group (55.2%) and alcohol (41%). Curiosity, peer pressure and to have enjoyment or fun were identified as the common reasons for initiating substance use. Conclusions: A high proportion of poly-substance use was found. The study findings would help in management and prevention strategy of substance use in Bangladesh.

Keywords: Bangladesh, de-addiction clinic, poly-substance users, substance use disorder

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Authors: Calvin Chiu, Samar Saade Needham

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The factors associated with the development of major depressive disorder (MDD) have been an ongoing area of concern within the field of psychopathology. Among parents, the rise in stress factors for individuals receiving less social support contributes to an increase in MDD cases. Understanding the causal aspects of MDD through the interworking of stress development within social support disparities provides critical insights into preventive measures for depressive symptoms. The present study seeks to assess the impact of social support on stress formation within MDD. Such that single parents lacking social support prompt an increase in stress formation, which proliferates the progression of MDD. Participants in this study were 450 ethnic minority mothers and fathers experiencing health inequities during pregnancy and early childhood. Perceived stress, social support, and depression are assessed by multi-item questionnaires that produce score ranges for general findings. Results indicated that lower social support scores resulted in higher depression scores, and higher perceived stress scores produced higher depression scores. Furthermore, single parents reported higher depression scores. These findings overlap with studies on paternal depression and suggest that MDD is a product of stress accumulation due to declining social support systems. Future studies may specify effective social support systems for decreasing stress accumulation in MDD formation in preventive strategies.

Keywords: major depressive disorder, stress formation, cognitive-behavioral outcomes, deficit-based behaviors

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Authors: Madiha Ijaz, Muhammad Akram, Sima Mir

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Underground mining of coal is carried out manually in Pakistan. Exposure to ergonomic hazards (musculoskeletal disorders) are very common among the coal cutters of these mines. Cutting coal in narrow spaces poses a great threat to both upper and lower limbs of these workers. To observe the prevalence of such hazards, a thorough study was conducted on 600 workers from 30 mines (20 workers from 1 mine), located in two districts of province Punjab, Pakistan. Rapid Upper Limb Assessment sheet and Rapid Entire Body Assessment sheet were used for the study along with a standard Nordic Musculoskeleton disorder questionnaire. SPSS, 25, software was used for data analysis on upper and lower limb disorders, and regression analysis models were run for upper and lower back pain. According to the results obtained, it was found that work stages (drilling & blasting, coal cutting, timbering & supporting, etc.), wok experience and number of repetitions performed/minute were significant (with p-value 0.00,0.004 and 0.009, respectively) for discomfort in upper and lower limb. Age got p vale 0.00 for upper limb and 0.012 for lower limb disorder. The task of coal cutting was strongly associated with the pain in upper back (with odd ratios13.21, 95% confidence interval (CI)14.0-21.64)) and lower back pain (3.7, 95% confidence interval 1.3-4.2). scored on RULA and REBA sheets, every work-stage was ranked at 7-highest level of risk involved. Workers were young (mean value of age= 28.7 years) with mean BMI 28.1 kg/m2

Keywords: workplace hazards, ergonomic disorders, limb disorders, MSDs.

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Authors: Leticia Souza Guirra, Márcia Eduarda Vieira Ramos, Edlaine Souza Pereira, Leticia Correa Celeste

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Introduction: Studies indicate that equine-assisted therapy enables improvements in several areas of functioning that are impaired in children with autism spectrum disorder (ASD), such as social interaction and communication. Objective: The study proposes to analyze the development of dialogic skills of a verbal child with ASD after participating in the equine-assisted therapy Step By Step in Communication. Method: This is quantitative and qualitative research through a case study. It refers to a 6 years old child diagnosed with ASD belonging to a group of practitioners of the Brazilian National Equine-Assited-Therapy Association. The Behavioral Observation Protocol (PROC) was used to evaluate communicative skills before and after the intervention, which consisted of 24 sessions once a week. Results: All conversational skills increased their frequency, with participation in dialogue and initiation of interaction. The child also increases the habit of waiting for his turn and answering the interlocutor. The emission of topics not related to conversation and echolalia showed a significant decrease after the intervention. Conclusion: The studied child showed improvement in communicative skills after participating in the equine-assisted therapy Step By Step in Communication. Contributions: This study contributes to a greater understanding of the impact of equine-assisted therapy on the communicative abilities of children with ASD.

Keywords: equine-assisted-therapy, autism spectrum disorder, language, communication, language and hearing sciences

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Authors: Arunava Chakrabarti

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A one-dimensional chain of magnetic atoms, representative of a quantum gas in an artificial quasi-periodic potential and modeled by the well-known Aubry-Andre function and its variants are studied in respect of its capability of working as a spin filter for arbitrary spins. The basic formulation is explained in terms of a perfectly periodic chain first, where it is shown that a definite correlation between the spin S of the incoming particles and the magnetic moment h of the substrate atoms can open up a gap in the energy spectrum. This is crucial for a spin filtering action. The simple one-dimensional chain is shown to be equivalent to a 2S+1 strand ladder network. This equivalence is exploited to work out the condition for the opening of gaps. The formulation is then applied for a one-dimensional chain with quasi-periodic variation in the site potentials, the magnetic moments and their orientations following an Aubry-Andre modulation and its variants. In addition, we show that a certain correlation between the system parameters can generate absolutely continuous bands in such systems populated by Bloch like extended wave functions only, signaling the possibility of a metal-insulator transition. This is a case of correlated disorder (a deterministic one), and the results provide a non-trivial variation to the famous Anderson localization problem. We have worked within a tight binding formalism and have presented explicit results for the spin half, spin one, three halves and spin five half particles incident on the magnetic chain to explain our scheme and the central results.

Keywords: Aubry-Andre model, correlated disorder, localization, spin filter

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Authors: Riksa Parikrama, Bremmy Laksono, Dadang S. H. Effendi

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Disorder of sexual development (DSD) covers various conditions with a specific term such as Klinefelter syndrome, Turner syndrome, androgen insensitivity syndrome, and many more. The techniques to accurately diagnose those conditions has developed extensively. However, conventional karyotype and fluorescence in situ hybridization (FISH) are still widely used in many genetic laboratories as the basic method to determine chromosomal condition of DSD patients. Cytogenetic study was conducted on 36 DSD patients in Cell Culture and Cytogenetics Laboratory, Faculty of Medicine Universitas Padjadjaran, Indonesia. Most of the patients referred to the laboratory diagnosed with primary amenorrhea, hypospadias, micropenis, genitalia ambiguity, or congenital adrenal hyperplasia. The study used G-banding technique to acquire complete karyotype and followed by FISH as either confirmation or comparison method. Among 36 patients, G-banding karyotype and FISH results showed that two were diagnosed with 45, X (Turner syndrome); three with 47, XXY (Klinefelter syndrome); five with 46, XX DSD; 22 with 46, XY DSD; and four with 46,XY complete androgen insensitivity syndrome. G-banding karyotype analysis were paired with FISH using X and Y chromosome probe produced similar results. The present analysis showed that FISH is a reliable method to attain a rapid and accurate chromosome analysis result of DSD patients. Nevertheless, conventional karyotype technique is still vital if other condition appeared in DSD patients in order to get more detailed karyotype result which FISH method cannot achieve.

Keywords: chromosome, DSD, FISH, karyotype

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Authors: Mariana Mangas, Yaroslava Martins, Ana Charraz, Ana Matos Pires

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Introduction: Health literacy empowers people of knowledge, motivation and skills to access, understand, evaluate and mobilize information relating to health. Although the benefits of public knowledge of physical disease are widely accepted, knowledge about mental disorder has been compatibly neglected. Nowadays there is considerably evidence that literacy is of great importance for the promotion of health and prevention of mental illness. Objective: Disclosure the concept and importance of mental health literacy and introduce the literacy program of Psychiatry Service of Hospital José Joaquim Fernandes. Methodology: A search was conducted on PubMed, using keywords “literacy” and “mental health”. A description of mental health literacy interventions implemented on Psychiatry Service of Hospital José Joaquim Fernandes was performed, namely, psychoeducation programs for depression and bipolar disorder. Results and discussion: Health literacy enables patient to be able to actively participate in his treatment. The improving of mental health literacy can promote early identification of mental disorders, improve treatment results, increase the use of health services and allow the community to take action to achieve better mental health. Psychoeducation is very useful in improving the course of disease and in reducing the number of episodes and hospitalizations. Bipolar patients who received psychoeducation and pharmacotherapy have no relapses during the program and last year. Conclusion: Mental health literacy is not simply a matter of having knowledge, rather, it is knowledge linked to action which can benefit mental health.

Keywords: mental health, literacy, psychoeducation, knowledge, empowerment

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Authors: Mariia A. Parfenenko, Ilya S. Dantsev, Sergei V. Bochenkov, Natalia V. Vinogradova, Olga S. Groznova, Victoria Yu. Voinova

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Introduction: Autism is the most common neurodevelopmental disorder. Autism is characterized by difficulties in social interaction and adherence to stereotypic behavioral patterns and frequently co-occurs with epilepsy, intellectual disabilities, connective tissue disorders, and other conditions. CHD8 codes for chromodomain-helicase-DNA-binding protein 8 - a chromatin remodeler that regulates cellular proliferation and neurodevelopment in embryogenesis. CHD8 is one of the genes most frequently involved in autism. Patients and methods: 2 unrelated male patients, P3 and P12, aged 3 and 12 years old, underwent whole genome sequencing, which determined that they both had different likely pathogenic variants, both previously undescribed in literature. Sanger sequencing later determined that P12 inherited the variant from his affected mother. Results: P3 and P12 presented with autism, a developmental delay, ataxia, sleep disorders, overgrowth, and macrocephaly, as well as other clinical features typically present in patients with causative variants in CHD8. The mother of P12 also has autistic traits, as well as ataxia, hypotonia, sleep disorders, and other symptoms. However, P3 and P12 also have different cardiac abnormalities. P3 had signs of a repolarization disorder: a flattened T wave in the III and aVF derivations and a negative T wave in the V1-V2 derivations. He also had structural valve anomalies with associated regurgitation, local contractility impairment of the left ventricular, and diastolic dysfunction of the right ventricle. Meanwhile, P12 had Wolff-Parkinson-White syndrome and underwent radiofrequency ablation at the age of 2 years. At the time of observation, P12 had mild sinus arrhythmia and an incomplete right bundle branch block, as well as arterial hypertension. Discussion: Cardiac abnormalities were not previously reported in patients with causative variants in CHD8. The underlying mechanism for the formation of those abnormalities is currently unknown. However, the two hypotheses are either a disordered interaction with CHD7 – another chromodomain remodeler known to be directly involved in the cardiophenotype of CHARGE syndrome – a rare condition characterized by coloboma, heart defects and growth abnormalities, or the disrupted functioning of CHD8 as an A-Kinase Anchoring Protein, which are known to modulate cardiac function. Conclusion: We observed 2 unrelated autistic males with likely pathogenic variants in CHD8 that presented with typical symptoms of CHD8-related neurodevelopmental disorder, as well as cardiac abnormalities. Cardiac abnormalities have, until now, been considered uncharacteristic for patients with causative variants in CHD8. Further accumulation of data, including experimental evidence of the involvement of CHD8 in heart formation, will elucidate the mechanism underlying the cardiophenotype of those patients. Acknowledgements: Molecular genetic testing of the patients was made possible by the Charity Fund for medical and social genetic aid projects «Life Genome.»

Keywords: autism spectrum disorders, chromodomain-helicase-DNA-binding protein 8, neurodevelopmental disorder, cardio phenotype

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Authors: Lucia Liu, Matthew Koziol

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Obsessive-compulsive disorder (OCD), a long-lasting anxiety disorder involving recurrent, intrusive thoughts, affects over 2 million adults in the United States. Transcranial magnetic stimulation (TMS) stands out as a noninvasive, cutting-edge therapy that has been shown to reduce symptoms in patients with treatment-resistant OCD. The Food and Drug Administration (FDA) approved protocol pairs TMS sessions with individualized symptom provocation, aiming to improve the susceptibility of brain circuits to stimulation. However, limited standardization or guidance exists on how to conduct symptom provocation and which methods are most effective. This study aims to compare the effect of internal versus external techniques to induce obsessional stress in a clinical setting during TMS therapy. Two symptom provocation methods, (i) Asking patients thought-provoking questions about their obsessions (internal) and (ii) Requesting patients to perform obsession-related tasks (external), were employed in a crossover design with repeated measurement. Thirty-six treatments of NeuroStar TMS were administered to each of two patients over 8 weeks in an outpatient clinic. Patient One received 18 sessions of internal provocation followed by 18 sessions of external provocation, while Patient Two received 18 sessions of external provocation followed by 18 sessions of internal provocation. The primary outcome was the level of self-reported obsessional stress on a visual analog scale from 1 to 10. The secondary outcome was self-reported OCD severity, collected biweekly in a four-level Likert-scale (1 to 4) of bad, fair, good and excellent. Outcomes were compared and tested between provocation arms through repeated measures ANOVA, accounting for intra-patient correlations. Ages were 42 for Patient One (male, White) and 57 for Patient Two (male, White). Both patients had similar moderate symptoms at baseline, as determined through the Yale-Brown Obsessive Compulsive Scale (YBOCS). When comparing obsessional stress induced across the two arms of internal and external provocation methods, the mean (SD) was 6.03 (1.18) for internal and 4.01 (1.28) for external strategies (P=0.0019); ranges were 3 to 8 for internal and 2 to 8 for external strategies. Internal provocation yielded 5 (31.25%) bad, 6 (33.33%) fair, 3 (18.75%) good, and 2 (12.5%) excellent responses for OCD status, while external provocation yielded 5 (31.25%) bad, 9 (56.25%) fair, 1 (6.25%) good, and 1 (6.25%) excellent responses (P=0.58). Internal symptom provocation tactics had a significantly stronger impact on inducing obsessional stress and led to better OCD status (non-significant). This could be attributed to the fact that answering questions may prompt patients to reflect more on their lived experiences and struggles with OCD. In the future, clinical trials with larger sample sizes are warranted to validate this finding. Results support the increased integration of internal methods into structured provocation protocols, potentially reducing the time required for provocation and achieving greater treatment response to TMS.

Keywords: obsessive-compulsive disorder, transcranial magnetic stimulation, mental health, symptom provocation

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Authors: Nitin Dwivedi, Jigna Shah

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Aim and objective of study: This article indicates a comparison among various generations of dendrimers, a dendrimer is a bioactive material has repetitively branched molecule and used for delivery of various therapeutic active agents. This debut report compares the effect various generations of PPI dendrimers for brain targeting and management of neurodegenerative disorders potential on single platform. This report involves the study of the various mechanism of synthesis ligand anchored various generations PPI dendrimers deliver the drug directly to the CNS, prove their effectiveness in the management of the various neurodegenerative disease. Material and Methods: The Memantine an anti-Alzheimer drug loaded in different generations (3.0G, 4.0G, and 5.0G) of PPI dendrimers which were synthesized were synthesized. The various studies investigate the effect of PPI dendrimers generation on different characteristic parameters i.e. synthesis procedure, drug loading, release behavior, hemolysis profile at different concentration, MRI study for determine the route drug from olfactory transfer, animal model study in vitro, as well as in vivo performance. The outcomes of the investigation indicate drug delivery benefit as well as superior biocompatibility of 4.0G PPI dendrimer over 3.0G and 5.0G dendrimer, respectively. Results and Conclusion: The above study indicate the superiority of in drug delivery system with maximum drug utilization and minimize the drug dose for neurodegenerative disorder over 5.0G PPI dendrimers. So, 4.0G PPI dendrimers are the safe formulations for the symptomatic treatment of the neurodegenerative disorder. The fifth-generation poly(propyleneimine) (PPI) dendrimers, inherent toxicity due to the presence of many peripheral cationic groups is the major issue that limits their applicability.

Keywords: Alzheimer disease, generation, memantine, PPI

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Authors: Evangelia-Chrysanthi Kouklari, Stella Tsermentseli, Claire P. Monks

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Executive function (EF) refers to a set of future-oriented and goal-directed cognitive skills that are crucial for problem solving and social behaviour, as well as the ability to organise oneself. It has been suggested that EF could be conceptualised as two distinct but interrelated constructs, one emotional (hot) and one cognitive (cool), as it facilitates both affective and cognitive regulation. Cool EF has been found to be strongly related to Theory of Mind (ToM) that is the ability to infer mental states, but research has not taken into account the association between hot EF and ToM in Autism Spectrum Disorder (ASD) to date. The present study investigates the associations between both hot and cool EF and ToM in school-aged children with ASD. This cross-sectional study assesses 79 school-aged children with ASD (7-15 years) and 91 controls matched for age and IQ, on tasks tapping cool EF (working memory, inhibition, planning), hot EF (effective decision making, delay discounting), and ToM (emotional understanding and false/no false belief). Significant group differences in each EF measure support a global executive dysfunction in ASD. Strong associations between hot EF and ToM in ASD are reported for the first time (i.e. ToM emotional understanding and delay discounting). These findings highlight that hot EF also makes a unique contribution to the developmental profile of ASD. Considering the role of both hot and cool EF in association with ToM in individuals with ASD may aid in gaining a greater understanding not just of how these complex multifaceted cognitive abilities relate to one another, but their joint role in the distinct developmental pathway followed in ASD.

Keywords: ASD, executive function, school age, theory of mind

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Authors: Komal Saeed

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Introduction: Rhinoplasty is considered one of the challenging aesthetic procedures. Psychosocial concerns motivate the urge for aesthetic procedures especially rhinoplasty. Males who fall in this category are designated as single, immature, male, over expectant and narcissistic (SIMON) in literature. As of yet, there is no term that depicts females showing similar characteristics. The purpose of this study is to evaluate the incidence of body dysmorphic disorder (BDD) in females seeking rhinoplasty and to introduce a term for such individuals. Materials and Methods: A prospective, questionnaire based, qualitative study was conducted in the Department Of Plastic Surgery between March 2018 and March 2020. 110 female candidates seeking aesthetic rhinoplasty were included in the study. BDD was evaluated using the Dysmorphic Concerns Questionnaire, DCQ. Data were analyzed using SPSS version 25 software and correlation between the groups was evaluated. Results: Out of 110 female subjects, 77.3% (n=85) were single, 16.4% (n=18) were married and 6.4% (n=7) were divorced. BDD was found in 41.8% (n=46) of the candidates, majority being single (n=41, 89.1%) and having educational status above diploma (n=39, 84.8%). There was a statistically higher percentage of young adults between 24 and 28 years (n=33, 71.7%) having BDD (p= 0.0001). Conclusion: Considering the high frequency of BDD among females seeking rhinoplasty, a standardized term ‘SIFON’ is introduced to describe such individuals who are S; single, I; immature, F; female, O; over expectant, N; narcissistic as apposed to SIMON in males. These individuals perceive aesthetic procedures as a solution to their body dissatisfaction. Therefore, preoperative counseling seems necessary to avoid unsatisfactory outcomes secondary to mental health.

Keywords: aesthetic rhinoplasty, body dismorphic disorder, single, immature, obsessive

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Authors: Sait Ozsoy, Hacer Yasar Teke, Mustafa Dalgic, Cetin Ketenci, Ertugrul Gok, Kenan Karbeyaz, Azem Irez, Mesut Akyol

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Self-mutilating behavior or self-injury behavior (SIB) is defined as: intentional harm to one’s body without intends to commit suicide”. SIB cases are commonly seen in psychiatry and forensic medicine practices. Despite variety of SIB methods, cuts in the skin is the most common (70-97%) injury in this group of patients. Subjects with SIB have one or more other comorbidities which include depression, anxiety, depersonalization, and feeling of worthlessness, borderline personality disorder, antisocial behaviors, and histrionic personality. These individuals feel a high level of hostility towards themselves and their surroundings. Researches have also revealed a strong relationship between antisocial personality disorder, criminal behavior, and SIB. This study has retrospectively evaluated 6,599 autopsy cases performed at forensic medicine institutes of six major cities (Ankara, Izmir, Diyarbakir, Erzurum, Trabzon, Eskisehir) of Turkey in 2013. The study group consisted of all cases with SIB findings (psychopathic cuts, cigarette burns, scars, and etc.). The relationship between causes of death in the study group (SIB subjects) and the control group was investigated. The control group was created from subjects without signs of SIB. Mann-Whitney U test was used for age variables and Chi-square test for categorical variables. Multinomial logistic regression analysis was used in order to analyze group differences in respect to manner of death (natural, accident, homicide, suicide) and analysis of risk factors associated with each group was determined by the Binomial logistic regression analysis. This study used SPSS statistics 15.0 for all its statistical and calculation needs. The statistical significance was p <0.05. There was no significant difference between accidental and natural death among the groups (p=0.737). Also there was a unit increase in number of cuts in psychopathic group while number of accidental death decreased (95% CI: 0.941-0.993) by 0.967 times (p=0.015). In contrast, there was a significant difference between suicidal and natural death (p<0.001), and also between homicidal and natural death (p=0.025). SIB is often seen with borderline and antisocial personality disorder but may be associated with many psychiatric illnesses. Studies have shown a relationship between antisocial personality disorders with criminal behavior and SIB with suicidal behavior. In our study, rate of suicide, murder and intoxication was higher compared to the control group. It could be concluded that SIB can be used as a predictor of possibility of one’s harm to him/herself and other people.

Keywords: autopsy, cause of death, forensic science, self-injury behaviour

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Authors: Nikk Leavitt, Peter Kellett, Cheryl Currie, Richard Larouche

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Background: Masculinity has been associated with poor mental health outcomes in adult men and is colloquially referred to as toxic. Masculinity is traditionally measured using the Male Role Norms Inventory, which examines behaviors that may be common in men but that are themselves associated with poor mental health regardless of gender (e.g., aggressiveness). The purpose of this study was to examine if masculinity is associated with generalized anxiety among men using this inventory vs. a man’s personal definition of it. Method: An online survey collected data from 1,200 men aged 18-65 across Canada in July 2022. Masculinity was measured using: 1) the Male Role Norms Inventory Short Form and 2) by asking men to self-define what being masculine means. Men were then asked to rate the extent they perceived themselves to be masculine on a scale of 1 to 10 based on their definition of the construct. Generalized anxiety disorder was measured using the GAD-7. Multiple linear regression was used to examine associations between each masculinity score and anxiety score, adjusting for confounders. Results: The masculinity score measured using the inventory was positively associated with increased anxiety scores among men (β = 0.02, p < 0.01). Masculinity subscales most strongly correlated with higher anxiety were restrictive emotionality (β = 0.29, p < 0.01) and dominance (β = 0.30, p < 0.01). When traditional masculinity was replaced by a man’s self-rated masculinity score in the model, the reverse association was found, with increasing masculinity resulting in a significantly reduced anxiety score (β = -0.13, p = 0.04). Discussion: These findings highlight the need to revisit the ways in which masculinity is defined and operationalized in research to better understand its impacts on men’s mental health. The findings also highlight the importance of allowing participants to self-define gender-based constructs, given they are fluid and socially constructed.

Keywords: masculinity, generalized anxiety disorder, race, intersectionality

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Authors: Cetin Arslan, Senol Tayan

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Social media is one of the most important and effective means of social interaction among people in which they create, share and exchange their ideas via photos, videos or voice messages. Although there are lots of communication tools, social media sites are the most prominent ones that allows the users articulate themselves in a matter of seconds all around the world with almost any expenses and thus, they became very popular and widespread after its emergence. As the usage of social media increases, it becomes an effective instrument in social matters. While it is possible to use social media to emphasize basic human rights and protest some failures of any government as in “Arab Spring”, it is also possible to spread propaganda and misinformation just to cause long lasting insurgency, upheaval, turmoil or disorder as an instrument of intervention to internal affairs and state sovereignty by some hostile groups or countries. It is certain that “social media” has positive effects on democracies letting people have chance to express themselves and to organize, but it is also obvious that the misuse of it, is very common that even a five-minute-long video can cause to wage a campaign against a country. Although it looks anti-democratic, when you consider the catastrophic effects of misuse of social media, it is a kind of area that serious precautions are to be taken without limiting democratic rights while allowing constant and perpetual share but preventing the criminal events. This article begins with the current developments in social media and gives some examples on misuse of it. Second part tries to put emphasize on the legal basis that can prevent criminal activities and the upheavals and insurgencies against state security. Last part makes comparison between democratic countries and international organizations’’ actions against such activities and proposes some further actions that are compatible with democratic norms.

Keywords: democracy, disorder, security, Social Media

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Authors: Zikra Faiz, Nisar Abid, Muhammad Waqas

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This study aim to examine the challenges faced by teachers during teaching to those students who are intellectually disable, suffering from autism spectrum disorder, learning disability, and ADHD at the primary level. The descriptive research design of quantitative approach was adopted to conduct this study; a cross-sectional survey method was used to collect data. The sample was comprised of 258 (43 male and 215 female) teachers who teach at special education institutes of Lahore district selected through proportionate stratified random sampling technique. Self-developed questionnaire was used which was comprised of 22 closed-ended items. Collected data were analyzed through descriptive and inferential statistical techniques by using Statistical Package for Social Sciences (SPSS) version 21. Results show that teachers faced problems during group activities, to handle bad behavior and different disabilities of students. It is concluded that there was a significant difference between male and female teachers perceptions about challenges faced during teaching with developmental disable students. Furthermore, there was a significant difference exist in the perceptions of teachers regarding challenges faced during teaching to students with developmental disabilities in term of teachers’ age and area of specialization. It is recommended that developmentally disable student require extra attention so that, teacher should trained through pre-service and in-service training to teach developmentally disabled students.

Keywords: intellectual disability, autism spectrum disorder, ADHD, learning disability

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Authors: Cely D. Magpantay, Geolynne Marie Adel, Cire-rine Mae Concepcion, Dessa Jean Orcajada, Jorgette Andrea Santos, Orian Laurace Canaman

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Mental illness initiative is very relevant in promoting the Mental Health Bill act of 2017. In the Philippines alone, the public is more open and receptive to people at risks with a mental condition. Although it is uncommon that parents can become more psychologically unfit compared to their children, research shows that parents who are suffering from mental illness have a more significant negative effect than another family member. The impact of parent’s mental health can put their children more susceptible to acquire the same disorder. The aim of the study is to explore the lived experiences of children whose parents suffered from mental illness. It discusses how their parent's mental condition in, anyway, affects their psychological development. Using Phenomenological Qualitative Research, an in-depth, interview was conducted to five (5) consenting adults who lived with their parents diagnosed with a mental disorder. Results are clustered into four themes. The first theme is the negative emotion towards parents, the second theme is the psychosocial dynamics in caring for the patient, third is accepting the disease, and fourth is a general perspective on the family. Each themes is validated by experts and the participants. This theme generates subcomponent like isolation, shallow relationship and debt of gratitude. Along with these themes comes the fear of having a family emerged. There is a growing need to strengthen the family ties even more because of parent’s mental illness. Therefore, parental mental illness has an effect on the children’s psychological and social development.

Keywords: lived experience in Philippines, mental health, parental mental illness, psychosocial dynamics

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Authors: Alla Tvardovskaya

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The family of a child with disabilities is an important mechanism of socialization. The relationship of mother and child with developmental difficulties is a significant predictor of the emergence, development and interiorization of various forms of mental activity. Complex impairments of the child form nonconstructive maternal attitude and destructive behavior strategies that complicate the dyadic relationship ‘mother-child’. The study of psychological characteristics of mother's personality was conducted within four years, and adaptive abilities of a child with a complex disorder were evaluated as well. 25 diads (25 mothers and 25 preschool children aged between 4-7 years with complex developmental disorders) took part in the study. Typological features of mothers rearing deafblind preschoolers are described. Constructive and non-constructive types of mothers’ attitude to a pre-school child with complex disorders are specified. The research shows that mothers of deafblind children are more depressed, they are engaged in children’s rearing more, and at the same time they experience difficulties to control negative emotions towards children or demonstrate impulsive behavior with a high level of anxiety. The correlation analysis of relationships between Vineland scales and the dominant type of mothers’ attitude to a child shows the presence of both general and specific links. Adaptive profile analysis of a child with complex disabilities allows to plan specific ways to increase their adaptation by developing a dyadic constructive relationship system. Techniques to develop constructive parental attitudes toward the child are proposed.

Keywords: adaptive behavior, complex disorder, constructive maternal attitude, deaf-blindness, pre-school child

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Authors: Sawitree Wongkittirungrueang

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The objectives of this research were: 1) to study the effect of social stories on social interaction of students with autism. The sample was Pratomsuksa level 5 student with autism, Khon Kaen University Demonstration School, who was diagnosed by the Physician as High Functioning Autism since he was able to read, write, calculate and was studying in inclusive classroom. However, he still had disability in social interaction to participate in social activity group and communication. He could not learn how to develop friendship or create relationship. He had inappropriate behavior in social context. He did not understand complex social situations. In addition, he did seemed not know time and place. He was not able to understand feeling of oneself as well as the others. Consequently, he could not express his emotion appropriately. He did not understand or express his non-verbal language for communicating with friends. He lacked of common interest or emotion with nearby persons. He greeted inappropriately or was not interested in greeting. In addition, he did not have eye contact. He used inadequate language etc. He was elected by Purposive Sampling. His parents were willing to allow them to participate in this study. The research instruments were the lesson plan of social stories, and the picture book of social stories. The instruments used for data collection, were the social interaction evaluation of autistic students. This research was Quasi Experimental Research as One Group Pre-test, Post-test Design. For the Pre-test, the experiment was conducted by social stories. Then, the Post-test was implemented. The statistic used for data analysis, included the Mean, and Standard Deviation. The research findings were shown by Graph. The findings revealed hat the autistic students taught by social stories indicated better social interaction after being taught by social stories.

Keywords: social story, autism spectrum disorder (ASD), autism, social interaction

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Authors: Uswah Ahmad Khan, Muhammad Moazam Fraz, Humayoon Shafique Satti, Qasim Aziz

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Approximately 10-14% of the global population experiences a functional disorder known as irritable bowel syndrome (IBS). The disorder is defined by persistent abdominal pain and an irregular bowel pattern. IBS significantly impairs work productivity and disrupts patients' daily lives and activities. Although IBS is widespread, there is still an incomplete understanding of its underlying pathophysiology. This study aims to help characterize the phenotype of IBS patients by differentiating the comorbidities found in IBS patients from those in non-IBS patients using machine learning algorithms. In this study, we extracted samples coding for IBS from the UK BioBank cohort and randomly selected patients without a code for IBS to create a total sample size of 18,000. We selected the codes for comorbidities of these cases from 2 years before and after their IBS diagnosis and compared them to the comorbidities in the non-IBS cohort. Machine learning models, including Decision Trees, Gradient Boosting, Support Vector Machine (SVM), AdaBoost, Logistic Regression, and XGBoost, were employed to assess their accuracy in predicting IBS. The most accurate model was then chosen to identify the features associated with IBS. In our case, we used XGBoost feature importance as a feature selection method. We applied different models to the top 10% of features, which numbered 50. Gradient Boosting, Logistic Regression and XGBoost algorithms yielded a diagnosis of IBS with an optimal accuracy of 71.08%, 71.427%, and 71.53%, respectively. Among the comorbidities most closely associated with IBS included gut diseases (Haemorrhoids, diverticular diseases), atopic conditions(asthma), and psychiatric comorbidities (depressive episodes or disorder, anxiety). This finding emphasizes the need for a comprehensive approach when evaluating the phenotype of IBS, suggesting the possibility of identifying new subsets of IBS rather than relying solely on the conventional classification based on stool type. Additionally, our study demonstrates the potential of machine learning algorithms in predicting the development of IBS based on comorbidities, which may enhance diagnosis and facilitate better management of modifiable risk factors for IBS. Further research is necessary to confirm our findings and establish cause and effect. Alternative feature selection methods and even larger and more diverse datasets may lead to more accurate classification models. Despite these limitations, our findings highlight the effectiveness of Logistic Regression and XGBoost in predicting IBS diagnosis.

Keywords: comorbidities, disease association, irritable bowel syndrome (IBS), predictive analytics

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Authors: Abdullah A. Al Qurashi, Hattan A. Hassani, Bader K. Alaslap

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Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is an uncommon, inheritable cardiac disorder characterized by the progressive substitution of cardiac myocytes by fibro-fatty tissues. This pathologic substitution predisposes patients to ventricular arrhythmias and right ventricular failure. The underlying genetic defect predominantly involves genes encoding for desmosome proteins, particularly plakophilin-2 (PKP2). These aberrations lead to impaired cell adhesion, heightening the susceptibility to fibrofatty scarring under conditions of mechanical stress. Primarily, ARVD/C affects the right ventricle, but it can also compromise the left ventricle, potentially leading to biventricular heart failure. Clinical presentations can vary, spanning from asymptomatic individuals to those experiencing palpitations, syncopal episodes, and, in severe instances, sudden cardiac death. The establishment of a diagnostic criterion specifically tailored for ARVD/C significantly aids in its accurate diagnosis. Nevertheless, the task of early diagnosis is complicated by the disease's frequently asymptomatic initial stages, and the overall rarity of ARVD/C cases reported globally. In some cases, as exemplified by the adult female patient in this report, the disease may advance to terminal stages, rendering therapies like Ventricular Tachycardia (VT) ablation ineffective. This case underlines the necessity for increased awareness and understanding of ARVD/C to aid in its early detection and management. Through such efforts, we aim to decrease morbidity and mortality associated with this challenging cardiac disorder.

Keywords: arrhythmogenic right ventricular dysplasia, cardiac disease, interventional cardiology, cardiac electrophysiology

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Authors: Nina Kaufmans

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Traditional therapies, utilizing spoken narratives as a primary source of intervention, are proven to be limited in effectively treating post traumatic stress disorder. Following the effects of the global pandemic of COVID-19, an increasing number of mental health consumers are beginning to experience somatically-based distress in addition to existing mental health symptoms. Moreover, the aftermath of the rapid increase in demand for mental health services has caused significant burnout in mental health professionals. This paper explores the ramifications of recent changes and challenges in the mental health demands and subsequent response and its consequences for mental health workers. We will begin by investigating the neurobiological mechanisms involved in traumatic experiences, then discuss the premises for "bottom-up" or somatically oriented psychotherapy approaches, and finally offer clinical skills and interventions for clients diagnosed with post traumatic stress disorder. In addition, we will discuss how somatically-based psychotherapy interventions implemented in sessions may decrease burnout and improve the well-being of clinicians. We will discuss how the integration of somatically-based interventions into counseling would increase the effectiveness of mental health recovery and sustain remission while simultaneously providing opportunities for self-care for mental health professionals.

Keywords: somatic psychotherapy interventions, trauma counseling, preventing and treating burnout, adults with PTSD, bottom-up skills, the effectiveness of trauma treatment

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