bluuebunny/crossref_metadata_2025_split huggingface dataset:
Potential associations of food allergy and altered neurodevelopment in children
Authors: Abdelmoula B. , Kharrat N. , Abdelhedi R. , Bouayed Abdelmoula N. 
Published: August 2023

IntroductionAllergic immune reactions and adverse reactions to foods, have been described as having growth concerns in children with food allergy. Moreover, immune dysregulation and inflammation have been documented as typical hallmarks in both allergic and neurodevelopmental conditions.ObjectivesIn this review, we address the association of food allergy and altered neurodevelopment in children.MethodsWe comprehensively review the scientific literature using Pubmed database and other search platforms to state the potential associations of food allergy and altered neurodevelopment in children.ResultsFood allergy is a pathological, potentially deadly, immune reaction activated by normally inoffensive food protein antigens. It is an important public health problem that affects children (children under the age of 5 years: 5 %) and adults, and it has been increasing in prevalence in the last 2 to 3 decades. The enhancement of the knowledge of the pathophysiological mechanisms lead to many suggestions such as the important role of the intestinal microbiota, the role of the immunological adaptation of the mucosal immune system to food antigens and the nutritional impact and growth concerns of children with food allergy. In recent studies and reviews, a significant and a positive association of common allergic conditions, in particular food allergy, with autism spectrum disorder and with attention deficit hyperactivity disorders have been reported. At the mechanistic level, it was recently shown through animal models, the potential role of intracranial Mast cells in neuroinflammation and neuropathology associated with food allergy as well as the potential role of the dysfunction of the gut-brain axis in promoting white matter development during early life when the brain is vulnerable to environment (such as food restrictions) that can result in an a wide spectrum of neurodevelopmental disorders later in life. Food allergy was also associated in literature with enhanced mTOR signaling in the brain and gut, which may impact brain and behavioral development.ConclusionsNeurodevelopmental disorders which occur in childhood in the context of food allergy is a challenging public health problem that need more human research studies to understand underlying mechanisms and promote therapeutic innovations.Disclosure of InterestNone Declared
Cross-cultural comparison of attitudes toward seeking professional psychological help : A Multinational Population-Based Study from 16 Arab Countries and 10,036 Individuals
Authors: Stambouli M. , Fekih Romdhane F. , Jaoua A. , Ghrissi F. , Cherif W. , Cheour M. 
Published: August 2023

IntroductionThere has been an increasing interest in people’s attitudes toward seeking psychological help. Although recent research has shown a rise in the number of people seeking help from psychological services, there is still a significant number who choose not to see a mental health specialist.ObjectivesThe aim of the current study was to examine the attitudes toward help-seeking psychological help among Arab population and to investigate factors related to these attitudes in the whole sample.MethodsWe carried out a multinational cross-sectional study using online self-administered surveys in the Arabic language from June to November 2021 across 16 Arab countries.The Community Attitudes toward the Mentally Ill scale,the Mental Health Knowledge Schedule scale and the Attitudes Toward Seeking Professional Psychological Help Scale-Short Form were administered to participants from the general public.ResultsThe study sample was predominantly female (77%), married (41%), educated (89% with tertiary education), living in urban areas (85%), with a mean age of 29.6 ± 10.8 years.Participants tended to have a higher preference to seek help from a psychologist or a psychiatrist (85.7%) and primary care physicians (80.7%).We also found that family members represented a preferred source of help in 80.4% of the cases.In bivariate analyses, help-seeking attitudes positively correlated with attitudes (r=.265) and knowledge (r=.121). Besides, multivariate regression analyses revealed that being female, older, having higher knowledge and more positive attitudes toward mental illness, and endorsing biomedical and psychosocial causations were associated with more favorable help-seeking attitudes; whereas having a family psychiatric history and endorsing religious/supernatural causations were associated with more negative help-seeking attitudes.ConclusionsAttitudes toward seeking professional psychological help are intricate. Determining factors associated with help-seeking attitudes may guide interventions in order to avoid delays in help-seeking.Disclosure of InterestNone Declared
Association of rs11644461 GRIN2A with clinical phenotype of schizophrenia
Authors: Poltavskaya E. , Fedorenko O. , Kornetova E. , Pozhidaev I. , Paderina D. 
Published: August 2023

IntroductionThe glutamatergic system plays an important role in the neurobiology of schizophrenia. A lot of number of variants in the GRIN genes have been found in patients with various neuropsychiatric disorders (Myers et al. F1000Res 2019; 8(F1000 Faculty Rev) 1940). GluN2A, encoded by the GRIN2A gene, is the most abundant of the GluN2 NMDA receptor subunits in the mammalian CNS. Clinical symptoms of schizophrenia vary among individuals. The GRIN2A gene has previously been shown to be associated with early onset schizophrenia (Poltavskaya et al. Life (Basel) 2021; 11(10) 997).ObjectivesThe aim of the study was to identify associations of the GRIN2A gene rs11644461 polymorphism with features of the course of schizophrenia.MethodsThis study was carried out in accordance with the Code of Ethics of the World Medical Association (Declaration of Helsinki 1975). 805 patients with schizophrenia (ICD-10: F20) were included. Clinical examination and diagnostic evaluation were performed using the Positive and Negative Syndrome Scale (PANSS). From the general group of patients, 2 subgroups were distinguished according to the PANSS survey: 391 patients with leading negative symptoms and 414 patients with leading positive symptoms. Also 2 subgroups were distinguished from the general group of patients: 398 patients with a continuous course of schizophrenia and 257 patients with episodic schizophrenia. Genotyping was performed by real-time
PCR.ResultsAn association of the C rs11644461 GRIN2A allele with the continuous course of schizophrenia was revealed (p<0,047). The rs11644461 polymorphism was not associated with the leading symptoms of the disease (positive or negative). At the same time, the values of the total score on the PANSS scale differed statistically significantly in carriers of different genotypes for this polymorphism. The sum of PANSS scores (Me [Q25 – Q75]) in carriers of the TC rs11644461 genotype was statistically significantly higher (106 [92–113]) than in carriers of the CC genotype (101 [87–108]) (p=0.006).ConclusionsAccording to the results obtained, carriers of the TC rs11644461 GRIN2A genotype have a higher severity of schizophrenia symptoms according to the PANSS scale than carriers of the CC genotype. Also in the present study, it was shown that the C allele rs11644461 GRIN2A is associated with the continuous course of schizophrenia, which indicates the contribution of this locus to the formation of the course of the disease.Disclosure of InterestE. Poltavskaya Grant / Research support from: Russian Science Foundation # 21-15-00212, O. Fedorenko Grant / Research support from: Russian Science Foundation # 21-15-00212, E. Kornetova Grant / Research support from: Russian Science Foundation # 21-15-00212, I. Pozhidaev Grant / Research support from: Russian Science Foundation # 21-15-00212, D. Paderina Grant / Research support from: Russian Science Foundation # 21-15-00212
Noncoding de novo mutations contribute to autism via long-range chromatin interactions
Authors: Kim I. B. , Choi J. , Park J. E. , Lee J.-C. , Jung S.-B. 
Published: August 2023

IntroductionThree-dimensional chromatin interactions regulate gene expressions. The significance of de novo mutations (DNMs) in chromatin interactions remains poorly understood for autism spectrum disorder (ASD).ObjectivesTo investigate the genomic architecture of ASD in terms of non-coding de novo mutations and 3-dimensional chromatin interactionsMethodsWe generated 813 whole-genome sequences from 242 Korean simplex families to detect DNMs, and identified target genes which were putatively affected by non-coding DNMs in chromatin interactions.ResultsNon-coding DNMs in chromatin interactions were significantly involved in transcriptional dysregulations related to ASD risk. Correspondingly, target genes showed spatiotemporal expressions relevant to ASD in developing brains and enrichment in biological pathways implicated in ASD, such as histone modification. Regarding clinical features of ASD, non-coding DNMs in chromatin interactions particularly contributed to low intelligence quotient levels in ASD probands. We further validated our findings using two replication cohorts, Simons Simplex Collection (SSC) and MSSNG, and showed the consistent enrichment of non-coding DNM-disrupted chromatin interactions in ASD probands. Generating human induced pluripotent stem cells in two ASD families, we were able to demonstrate that non-coding DNMs in chromatin interactions alter the expression of target genes at the stage of early neural development.ConclusionsTaken together, our findings indicate that non-coding DNMs in ASD probands lead to early neurodevelopmental disruption implicated in ASD risk via chromatin interactions.Disclosure of InterestNone Declared
Behavioral signs of CHARGE syndrome and CHD7 mutational spectrum
Authors: Bouayed Abdelmoula N. , Abdelmoula B. 
Published: August 2023

IntroductionCHARGE syndrome is a genetic entity caused by mutations in the chromodomain helicase DNA-binding protein 7 gene (CHD7) at 8q12.1. There are pleiotropic signs among individuals with this disorder. Diagnosis is clinical using medical criteria. CHD7 gene mutations are usually found in 90% of affected patients.ObjectivesThe aim of this study was to report behavioral signs of CHARGE syndrome and their phenotype-genotype correlations.MethodsFour Tunisian males from Sfax (Tunisia) with clinical features suggestive of CHARGE syndrome were examined at our genetic counselling at the medical University of Sfax. Assessment of facial dysmorphic and behavioral features, karyotyping using RHG banding and molecular screening of CHD7 mutations were performed. Molecular analysis was made using direct Sanger sequencing of the entire CHD7 gene.ResultsMolecular genetic analysis revealed two deletions of the CHD7 gene at exon 3 for the first patient and at exon 8 for the second. The two genetic alterations were associated to retarded growth development and genital hypoplasia. Sensory impairments included for the first visual defects and for the second auditory and olfactory defects. Besides constant delayed psychomotor development, the two patients shared receptive and expressive communication disorders, anxiety, attention deficit, cognitive impairment and intellectual disability. There were no aggressive traits nor major autistic features. Learning disabilities were also present for the two patients.ConclusionsThe CHD7 gene controls the developmental pathways as a transcriptional regulator in the nucleoplasm through chromatin organization. Mutational alterations lead according to the affected domains, and the structure of the nonfunctional CHD7 protein, to the perturbation of the regulation of the developmental pathways’ genes expression. CHD7 is demonstrated as an important component of neurogenesis through two neuronal determination factors: Sox4 and Sox11. While nonsense, frameshift and missense mutations are most common, deletions and duplications are less frequent. Moreover, while exon 3 is commonly altered, mutations of exon 8, which is related to the CHD7 protein chromodomain, are very rare. Phenotype-genotype correlations according to the type of genomic alteration of CHD7 gene are rarely published, particularly concerning behavioral and psychological features of CHARGE association. Here, physical disorders of our two patients seem to be different but behavioral features seem to be common. Multidisciplinary care is thus required for CHARGE syndrome and molecular analysis must be indicated because the type of the genomic alterations may be a key step for a more accurate management of physical and behavioral disorders.Disclosure of InterestNone Declared
“… wise, amazed, temp’rate, and furious, Loyal and neutral, in a moment”: first heritability analysis of affective temperaments reports remarkably high SNP-based heritability
Authors: Gonda X. , Torok D. , Eszlari N. , Gyorik D. , Millinghoffer A. , Bagdy G. , Juhasz G. 
Published: August 2023

IntroductionDepression shows a moderate heritability of 37-42%, which can be up to 75% in severely depressed samples 75%. At the same time SNP-based heritability of depression in GWAS-s is around 8-9%. Heterogeneity of the depressive phenotype may contribute not only to the lack of understanding its genetic background but may also hinder the identification of novel targets. Thus clinically relevant intermediate endophenotypes are needed for. The affective temperaments in the Akiskal model may be considered high-risk states or subclinical manifestations of mood disorders. Considering their strong genetic and biological background, high heritability in family studies, and their temporal stability, they may prove to be relevant endophenotypes for depression.ObjectivesThe aim of the current study was to investigate the genetic determinants and heritability of affective temperaments based on a GWAS approach.Methods775 subjects aged between 18-60 years recruited in Budapest, Hungary provided genetic samples and completed questionnaires including the TEMPS-A (Temperament Evaluation of Memphis, Pisa, Paris and San Diego) scale. A genome-wide association analysis was performed with the five affective temperaments as outcome variables. Age, gender, the top 10 principal components of the genome, and the other 4 phenotype were added in the model as covariates. Summary statistics derived from the GWAS analyses were used to estimate the heritability, i.e. the genetic variance explained by the different affective temperaments. LD score regression using LDPred2 [4] was performed to estimate heritability from the beta values and effect size in case of all 5 affective temperament phenotypes.Resultsrs3798978 showed a genome-wide significance (p=4.44x10-8) for anxious temperament, and several other variants showed suggestive significances for all five temperaments. The highest estimated heritability (h2 = 0.5224) was observed for the depressive temperament, and similarly high heritability was observed for the hyperthymic temperament (h2 = 0.4956). Anxious and cyclothymic temperaments showed almost the same heritability (cyclothymic h2 = 0.1651, anxious h2 = 0.1663), whereas for the irritable temperament, we got negative heritability estimation (h2 = -0.0567), which means that all of the phenotypic variance is explained by environmental factors.ConclusionsOur analyses yielded remarkably high heritability values for depressive and hyperthymic temperaments explaining 52% and 50% of phenotypic variances. In contrast to the 8-9% SNP-based heritability in depression studies our findings suggest that these temperaments may be relevant endophenotypes for mood disorders.Disclosure of InterestNone Declared
Compassion and burnout syndrome in medical students from the Colombian Caribbean coast
Authors: Ruiz Gonzalez E. P. , Krikorian A. , Romero A. M. , Lemos M. , Roman J. P. 
Published: August 2023

IntroductionCompassion is expected to be a characteristic present in medical students, since it is a key element in subsequent professional practice (Blanco et al., 2021). However, during the degree, students go through various demands that can generate burnout syndrome (Amor et al., 2020) and as a consequence a decrease in compassion. In this sense, it is important to provide empirical evidence on the possible relationship between these two constructs, in order to generate support that allows the implementation of mental health promotion strategies.ObjectivesAnalyze the relationship between compassion and burnout syndrome in medical students.MethodsThis study was done through a cross-sectional study of correlational scope in 250 medical students. The Compassion Scales developed by Gilbert (Gilbert et al., 2017) were used; they assess three general factors (Self-compassion, Compassion for others, and Compassion from others), However, in this study, we used only the self-compassion and compassion for others scales.ResultsThe results revealed a statistically significant, positive correlation between personal accomplishment and self-compassion. In the case of emotional exhaustion and depersonalization, significant associations were also found with self-compassion and compassion for others, but of a negative magnitude (Table 1).Image:ConclusionsIt was concluded that the higher the levels of self-compassion of the medical students evaluated, the greater their personal fulfillment. On the other hand, the lower the levels of self-compassion and compassion for others, the higher levels of depersonalization and emotional exhaustion were found in medical studentsDisclosure of InterestNone Declared
EUROLD: preliminary results of the ecological study on suicide and its associated socioeconomic variables in people over 85 in Europe
Authors: Carrasco Picazo J. P. , Rodríguez Ruzafa M. , Junquera Fernández G. , Aguilar E. J. 
Published: August 2023

IntroductionApproximately one person commits suicide every 40 seconds, resulting in more than 800,000 deaths per year worldwide. Regarding this phenomenon, it is necessary to highlight how suicide rates increase markedly with age. These reach their highest figures in people aged 85 years or older, and this increase is very worrying in certain geographical areas. Although there is extensive literature on the risk factors that influence at the individual level, the same cannot be said when the problem is analyzed at the population level.ObjectivesThe study aims to review the entire Eurostat database, relating suicide data from different European countries to any possible variables that may influence suicide. In this pilot phase, certain socioeconomic variables were chosen based on criteria of suitability and availability of the information provided, selecting data from 2015, as it was the most recent year in which most countries reported their data on suicide in people over 85 years of age.MethodsFirstly, a comparison was made of suicide rates in people over 85 years of age in relation to overall suicide rates in different European countries (suicide rate in people over 85 years of age divided by the total rate in the country). Secondly, socioeconomic variables that may be more strongly related to suicide in this age group in these European countries were studied. After calculating the conditional suicide rate in people over 85 years of age with respect to the overall suicide rate in each country (Fig. 1), Spearman correlations were performed between the conditional rates and different demographic variables, economic variables, social variables, and health variables.ResultsConditional suicide rates in people over 85 years of age show a marked difference between southern and northern European countries. In the correlational analysis, several significant associations were found. Suicide in those over 85 years of age was associated with economic variables (social deprivation, economic impossibility to buy new clothes, impossibility to dedicate money for personal matters and Gini coefficient), demographic (old-age dependency ratio) and health (self-perceived health). After performing a multivariate regression with the variables that were significant in the Spearman correlation, included the variables “old-age dependency ratio (X1)” and “economic impossibility to buy new clothes (X2),” with a value of R-square = 0.612 and a value of p < 0.01.Image:ConclusionsThe conclusions suggest that of the different variables studied, the great majority in which an association has been found belong to the field of economics, specifically poverty and economic inequality, and demographics, highlighting the old-age dependency ratio. Furthermore, marked north/south differences can be observed in the different European countries.Disclosure of InterestNone Declared
Capgras Syndrome as a Manifestation of a Neurodegenerative Disease – What do we know?
Authors: Matias M. , Lopes L. , Grenha I. , Marques M. , Alves M. 
Published: August 2023

IntroductionThe Capgras syndrome (CS), firstly described in 1899, is a delusional conviction that a person emotionally close has been replaced by an imposter or duplicate. It has been associated to primary psychiatric disturbances as well as neuropsychiatric syndromes. Its etiology and management have been debated throughout the years. We describe a case of a 75 years old male who was admitted to our psychiatric ward due to aggressiveness towards his spouse, believing she was an imposter.ObjectivesIn light of this case, we aim to discuss its etiology and review the association between the Capgras syndrome and neurodegenerative diseases.MethodsClassically, CS was associated to psychotic illnesses such as schizophrenia, schizoaffective disorder and substance abuse. However, recent studies shed light on other possible etiologies, such as neurodegenerative and nonneurodegenerative diseases. In older ages, it has been associated to Alzheimer’s and, most commonly, Lewy body dementia subtype. Research also shows that other misidentification syndromes are frequently present in association with CS. Patients are more likely to be aggressive towards caregivers under these circumstances. Studies suggest there is a higher prevalence of right hemisphere lesions in CS, namely frontal and temporal lobes, that impair facial processing. Various brain circuits are being proposed as possible etiopathogenesis.In this case, parkinsonian signs were observed in our patient, such as resting tremor, imbalance gait and rigidity. Those had not been described before his hospitalization. His family stated memory loss and difficulty in executive functions were present for at least a year. This patient had no previous psychiatric history. Brain CT scan showed cortical atrophy.ResultsA neurodegenerative cause was assumed, and the patient was started on a cholinesterase inhibitor and on a second-generation antipsychotic. Improvement was observed.ConclusionsThis case is an example of the heterogenous etiology of the CS. It is important to consider different diagnosis, especially in older ages. More studies are needed to improve the knowledge on CS etiopathogenesis as well as the brains circuits involved. Psychopharmacology tackling theses syndromes is also a growing.Disclosure of InterestNone Declared