bluuebunny/crossref_metadata_2025_split huggingface dataset:
Autism spectrum disorder and genetic: a possible correlation?
Authors: Violi M. , Simoncini M. , Valetto A. , Bertini V. , Pardini F. , Massoni L. , Carmassi C. , Dell’Osso L. 
Published: August 2023

IntroductionAutism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social interaction and communication, whose etiology is heterogeneous, including genetic, epigenetic, and environmental factors. It is associated with restricted interests and stereotyped behaviors with high prevalence rates in general population, neurobiological bases and high heritability.ObjectivesThe aim of our study is to identify the possible phenotype-genotype relationships regarding neurodevelopmental disorders and to evaluate a correlation between genomic alterations and the manifestations of the overt and subthreshold ASD in a family administered psychiatric clinical evaluations at our hospital.MethodsThe family M underwent a psychiatric evaluation through the MINI interview according to the SCID-5 criteria, the AQ, ADAS, PAS-SR, SHI-SHY,SHY-OBS to assess respectively the subthreshold traits of ASD in adulthood, the panic-agoraphobic, social-phobic and obsessive-compulsive spectrum and CAT-Q Italian version, to evaluate social camouflage behaviors typical of ASD individuals. Array Comparative Genomic Hybridization was used for studying DNA imbalances in this family.ResultsWe found that Mrs.A, her father, her brothers and her older sister had a microduplication, very likely pathogenic, since it has been never reported in healthy subjects and harbors several genes. It could be related with overt and subthreshold traits of ASD. From the questionnaires administered and from the clinical interview, it emerged that Mrs.A is affected by ASD and Bipolar Disorder. Her twin brothers have been evaluated at early ages by child neuropsychiatric clinic and they were diagnosed with ASD and mental and psychomotor impairment. Her father was reported a significant trend in ADAS, AQ, PAS-SR, SHI-SHY and SHY-OBS scores. Finally, about her older sister, even if our results were not significant for an ASD diagnosis, we speculated that she performed a high score in some ADAS items and in the CAT-Q but not in the AQ. Females generally tend to attract fewer attention than males thanks to their better coping and camouflaging mechanisms as well as their ability to “disappear” in large groups.ConclusionsGenetic knowledge can have a relevant clinical impact; a genetic etiology can be identified in individuals with ASD, leading to the identification of treatable psychiatric comorbidities. Furthermore, knowing the causative genetic variants of ASD could provide crucial information for genetic counseling as well as to understand the neurobiology of these disorders and to contribute to an early diagnosis.Disclosure of InterestNone Declared
Development of a cellular model to study L-DOPA decarboxylase deregulation in the pathogenesis of schizophrenia
Authors: Kurishev A. , Abashkin D. , Karpov D. , Golimbet V. 
Published: August 2023

IntroductionSchizophrenia (SZ) is an inherited mental illness that affects 1% of the world’s population. Schizophrenia is a common functional psychosis with some unifying features that appears to have a universal distribution. Much of the research on SZ seeks to identify physiological, biochemical, or genetic features that differ between patients and healthy individuals. Biochemical factors represent an imbalance of certain biochemical substances in the brain, especially neurotransmitters. Early studies focused on the brain biochemistry of patients with SZ in terms of dysregulation of the neurotransmitter network. There is evidence that elevated dopamine concentrations are associated with positive symptoms (i.e., hallucinations, delirium) of the disease. For example, L-DOPA decarboxylase (DDC) is an enzyme involved directly in dopamine and serotonin synthesis and indirectly in noradrenaline synthesis. Therefore, the DDC gene can be considered a candidate gene for schizophrenia and its activity is a good candidate for functional analysis via epigenetic repression.ObjectivesWe aimed to create a cellular model with a deregulated DDC gene.MethodsWe constructed two lentiviral vectors, one expressing the dCas9-KRAB-MeCP2 repressor under the control of a synthetic tetracycline inducible promoter, and the other carrying a cassette expressing two sgRNAs with spacers against the DDC promoter. The SH-SY5Y cell line was sequentially stably transduced with both lentiviral constructs, and cells carrying both constructs were selected by the fluorescence of the GFP and RFP reporter proteins encoded in the lentiviral construct backbones.ResultsMethyl-sensitive real-time PCR followed by high-resolution fusion showed methylation of the DDC promoter. Correspondingly, real-time PCR showed a two-fold decrease in DDC expression in SH-SY5Y during tetracycline-induced expression of the CRISPR repressor.ConclusionsWe developed a cellular model to study the contribution of DDC deregulation to SZ-related molecular mechanisms.Disclosure of InterestNone Declared
Case report of schizophrenia in a patient with de novo mutation in the SLC6A1 gene
Authors: Mikhailova V. , Alfimova M. , Lezheiko T. , Kondratyev N. , Kaleda V. , Galiakberova A. , Dashinimaev E. , Golimbet V. 
Published: August 2023

IntroductionSchizophrenia is a severe mental disorder mainly caused by genetic risk factors. Many studies have demonstrated that both multiple genetic variants and rare mutations are associated with schizophrenia risk. The next step is to study the causal effect of the gene on the phenotype. Recently, a large family-based study identified de novo mutations, which may increase liability to schizophrenia (Rees et al 2020). In particular, a mutation in the GABA transporter (SLC6A1) gene (rs756927822 C/T) was identified in one patient from our subsample.ObjectivesHere, we present a case report of this patient and describe the procedure of derivation of induced pluripotent stem cells (iPSCs) from fibroblast cultures.MethodsClinical, psychometric and neuropsychological methods were used. iPSCs were derived from patients’ and both unaffected parents’ fibroblasts. Human fibroblasts, cultured in fibroblast medium, are infected with lentivirus vectors expressing the transcription factors Oct4, Sox2, c-Myc, and KLF4. All iPSCs were immunocytochemical stained for intracellular (Oct4, Sox2) and extracellular (SSEA4, Tra-1-81, Tra-1-60) pluripotency markers. An qPCR analysis for pluripotency markers (TDGF1, Sox2, Oct4, REX1, LIN28, NANOG, KLF4, GDF3, DPPA4, DNMT3) was performed. All four iPSC lines formed embryoid bodies before the differentiating into three germ layers. Differentiation was confirmed by immunostaining for mesoderm (aSMA), ectoderm (Nestin, Desmin) andendoderm (FoxA2, Pax6) markers.ResultsA 47-year-old male patient was presented to psychiatry at the age of 16. There was no personal or family history of psychiatric disorder, the premorbid functioning was normal, the patient had no somatic diseases, showed high performance in sport (mountain skiing). On his first admission, he was diagnosed with schizoaffective psychosis. The patient showed signs of mania and catatonia. Neuropsychological testing revealed a decrease of cognitive functioning (short-term and associative memory). The patient was followed up for more than 20 years. The diagnosis was changed for schizophrenia at the age of 43 years. There was a deterioration in cognitive function (the apparent decrease in performance on neurocognitive tests (attention, memory, executive functions) from the first examination (1997) till last one (2019). The patient refused or was not able to perform most of the tasks. During follow-up, the patient shows good adherence to treatment.ConclusionsFor this patient, obtained lines might be valuable for investigating the disease mechanisms and screening candidate drugs.Disclosure of InterestNone Declared
Assessment of health-related quality of life in asthmatic patients
Authors: Omrane A. , Touil I. , Romdhani R. , Brahem Y. , Bouchareb S. , Boussoffara L. , Kneni J. , Khalfallah T. , Keskes N. 
Published: August 2023

IntroductionAsthma is a common worldwide, chronic respiratory disease. It has been shown to impair a person’s health-related quality of life (HR-QoL), but the core influencing factors are not fully understood.ObjectivesWe aimed in this study to evaluate QoL of asthmatic patients and its main determinants.MethodsA prospective single center study was held with asthmatics consulting in the Pulmonology Department a public hospital in Tunisia. A complete structured questionnaire concerning socio-demographic and clinical characteristics were determined. The assessment of asthma control during the last 4 weeks was based on the GINA 2022 report criteria. The quality of life was assessed by the Asthma Quality of Life Questionnaire (AQLQ) scale in its validated Arabic version.ResultsA total of 109 asthmatic patients was included. Most of them were female (N= 73, 67%). Twelve (11%) were current or ex-smokers. The majority of patients (N=101, 92.6%) were active. Thirty-nine patients (35.7%) had comordidities. Asthma were controlled in 40.4% of cases.The average of AQLQ was4.9±1.2. The most affected domains were environmental stimuli and symptoms with a mean value of 4.6 ± 1.3 and 5.0± 1.3 respectively.Allergic and uncontrolled asthma and severe disease were significantly associated with the average of AQLQ in the study population with p respectively 0.001, <0.000 and <0.000.Multivariate analysis demonstrated that factors independently associated with the HR-QoL were : the severity of asthma (OR-0.39, IC95% [-0.62,-0.15], p=0.001) and uncontrolled disease (OR=0.59, IC95%,[-0.87,-0.31], p=0.000).ConclusionsThese results suggest that uncontrolled and severe asthma significantly affect health asthma-related quality of life.Disclosure of InterestNone Declared
First-admissions in Psychiatry: a cluster analysis of a sample of inpatients from 2019 to 2021
Authors: La Spina E. , Mastrangelo M. , Montalbani B. , Mancinelli I. , Del Casale A. , Comparelli A. , Pompili M. 
Published: August 2023

IntroductionOnly a few studies analyse the clinical and psychopathological characteristics of first-admitted inpatients regardless of diagnosis.ObjectivesDescribing the psychopathological, demographic, and clinical characteristics of inpatients with acute symptomatology identifying groups with common features using factors extracted from the Brief Psychiatric Rating Scale (BPRS).MethodsWe selected 103 (48 F) inpatients from the psychiatric ward of the Sant’Andrea Hospital in Rome from January 2019 to December 2021. We assessed psychopathological characteristics and suicide risk with BPRS, Global Assessment of Functioning, and Columbia-Suicide Severity Rating Scale and gathered the anamnestic and demographic data. We conducted descriptive analyses and factor analysis on BPRS items. Then we used the BPRS factors as variables to perform a cluster analysis.ResultsMajor Depressive Disorder (MDD) was the most frequent diagnosis. We obtained five factors: “Psychotic dimensions” (FI); “Anxiety” (FII); “Hostility and lack of cooperation” (FIII); “Depression” (FIV); “Flattening of affectivity” (FV). We identified two clusters (cluster 1 n=31; cluster 2 n=72). Patients in cluster 1 reported higher average scores in FI and FIII while the average scores of cluster 2 patients in FII and FIV were higher than patients in cluster 1. We called cluster 1 “psychotic and hostile patients compulsory admitted with a low risk of suicide”. Cluster 2 patients are “affective patients with a high risk of suicide”. The two clusters share an average age of 38-39 yo and an average GAF score indicating severe impairment and inability to function in almost all areas. They differ in the psychiatric diagnosis represented: respectively, Schizophrenia Spectrum Disorder and Bipolar Disorder with low suicidal risk, MDD, and Personality Disorders with a high suicidal risk. 39% of patients in cluster 1 were involuntarily admitted.ConclusionsThe results of our study show that patients admitted for the first time usually are admitted for psychotic symptoms and a high risk of suicide. Psychotic patients more often show hostility and lack of cooperativeness which can explain the higher rate of involuntary admissions. Patients with predominant affective symptoms show a higher risk of suicide. Our analyses do not consider categorical diagnosis highlighting that exist transdiagnostic groups of patients with specific needs.Disclosure of InterestNone Declared
Stressful events among adolescents from public schools in a community in Brazil
Authors: Pacheco P. M. , Pacheco M. D. S. , Molini-Avejonas D. R. 
Published: August 2023

Introduction
Adolescence can be seen as a fundamental stage of life for the construction of the subject, resulting from childhood experiences and decisive for adulthood. It is common stressors to appear during adolescence, due to the lack of necessary resources to deal with a stressful problem or event. In this way, the evaluation of a stressful situation by the adolescent is important, because from it he will develop coping strategies that will help him to deal with the problem.
Stressful life experiences, whether important events or even common annoyances, threaten the adolescent’s well-being, in addition to being linked to mental health and behavior problems, both internalizing ones, such as isolation, somatic complaints and anxiety/depression, as well as externalizing factors such as breaking rules and aggressive behavior. Romantic relationships are related to a major source of stress in the lives of these young people when conflicts, jealousy, aggression and infidelity occur, and have a great impact on the mental health of the individuals involved. Breakups, for example, have been linked to the onset of clinical depression in adolescents.There are three categories of concern for adolescents: (a) related to achievements, such as success in school or opportunity for success in the future; (b) relationships with colleagues or family members; and (c) social problems such as the environment, poverty and unemployment.ObjectivesTo identify and describe stressful life events in adolescents from public schools in a poor community in Brazil.MethodsThe study included 64 adolescents, boys (51.56%) and girls (48.43%), aged between 12 and 16 years old (average 13.76%). The Adolescent Perceived Events Scale (APES) was used, which consists of 90 items that correspond to events that may occur in the adolescent’s daily life.ResultsThe most significant stressors for the adolescents in this study were those dealing with the death of close people, such as a friend (100%), a family member (96.29%) and a relative (94.73%). Also appearing as major stressors were “plans that did not work” (91.89%), use of alcohol or drugs by family members (87.5%), loss of a job by parents (75%), imprisonment of a family member (75%), fights with boyfriend or girlfriend (86.66%), breakup (75%) and concern about their own appearance (76.52%).ConclusionsEvents referring to interpersonal relationships were considered the greatest stressors, with percentages above 80%. The present study contributed to the understanding of adolescents’ perceptions of their life events. In this way, we can understand the relationship between stressors and the coping strategies. Furthermore, it allows the proposition of preventive intervention strategies in the school context.Disclosure of InterestNone Declared
Clinical variants of affective manifestations in the structure of adjustment disorder at forcibly displaced persons as a result of Russia’s invasion of Ukraine
Authors: Kuzminov V. , Linskiy I. 
Published: August 2023

IntroductionAs a result of Russia’s large-scale military aggression against Ukraine, many civilians were forced to leave their homes. Emotional disorders associated with fear for one’s life and relatives, loss of housing, work, and stable social ties are found in the majority of forcibly displaced persons.ObjectivesThe purpose of our study was to study the characteristics and expressiveness of affective disorders in displaced persons as a result of Russian aggression against Ukraine. Studied affective disorders in 24 forcibly displaced females. Age of the surveyed 30-50 years. Contacted with psychiatrist because the insistence of relatives. Patients were not identified and applied earlier about mental disorders to psychiatrists. To quantify anxiety, we used a scale HAM-A.MethodsClinico-psychopathological.ResultsAffective disorders in the examined patients can be confidently attributed to adjustment disorders. According to the ICD-10, an adaptation disorder (F43.2) was diagnosed. Most of them were dominated by depressive and anxiety-depressive modalities of affective disorders. According to the HAM-A scale, the level of anxiety was 14±2.7. Most patients showed few irritability and anger, which is probably due to the inability to respond to the cause of their troubles and problems. However, some patients (6 people) expressed gloomy irritability, anger (clinical sighnificant) a feeling of hostility towards others. It is necessary to note the undulation of these manifestations, often aggravated under the influence of external factors.At the same time, the immediate environment often suffered, on which all the troubles fell. The behavior of such patients became maladaptive, significantly disrupting communication.ConclusionsTherapeutic impact on internally displaced persons should be aimed not only at overcoming anxiety and depressive syndrome, but also irritability and anger. This should be taken into account when planning psychotherapeutic programs, it is possible to prescribe normotimics.Disclosure of InterestNone Declared
Memantine augmentation of sertraline in the treatment of symptoms and executive function among patients with obsessive-compulsive disorder: A double-blind placebo-controlled, randomized clinical trial
Authors: Askari S. 
Published: August 2023

IntroductionMedications currently recommended for the treatment of Obsessive-Compulsive Disorder (OCD) usually decrease the severity of the symptoms by 20–30%; however, 40–60% of OCD patients do not achieve a satisfactory response. Our main objective was to investigate the effectiveness of memantine, a non-competitive N-Methyl-D-aspartate (NMDA) receptor antagonist, as an adjunct therapy to sertraline, a selective serotonin reuptake inhibitor (SSRI), to improve severity of symptoms and executive function among patients with obsessive-compulsive disorder.ObjectivesOur main objective was to investigate the effectiveness of memantine, a non-competitive N-Methyl-D-aspartate (NMDA) receptor antagonist, as an adjunct therapy to sertraline, a selective serotonin reuptake inhibitor (SSRI), to improve severity of symptoms and executive function among patients with obsessive-compulsive disorder.MethodsSeventy patients with OCD according to the Diagnostic and Statistical Manual of Mental Disorders (DSM–5) criteria, and a Yale-Brown obsessive compulsive scale (Y-BOCS) score of more than 21 were recruited to the study. They received sertraline (100 mg daily initially followed by 200 mg daily after week 4) and either memantine (10 mg twice daily) or placebo in a placebo controlled, double-blinded, parallel-group, clinical trial of 12 weeks. The primary outcome was OCD symptoms measured by the Y-BOCS. Moreover, executive function of participants was measured by the Wisconsin Card Sorting Test (WCST).ResultsThe total score, and obsession and compulsion subscales of Y-BOCS significantly dropped in both groups with no significant difference between the two groups. However, memantine group showed a greater response in the number of completed categories subscale of the WCST (p value<0.001). We did not observe any major adverse effects in any of the groups.Image:Image 2:Image 3:ConclusionsMemantine has an acceptable safety and tolerability in patients with OCD and might have a positive effect on their executive function. Nevertheless, the current results don`t42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 support the efficacy of memantine as an adjunctive agent to sertraline for symptoms in patients with OCD.Memantine has an acceptable safety and tolerability in patients with OCD and might have a positive effect on their executive function. Nevertheless, the current results don`t support the efficacy of memantine as an adjunctive agent to sertraline for symptoms in patients with OCD.Disclosure of InterestNone Declared
Obsessive-compulsive spectrum – review of the construct
Authors: Torres S. , Moura J. , Cunha J. F. , Lopes A. 
Published: August 2023

IntroductionObsessive-compulsive disorder (OCD) is a clinical syndrome whose hallmarks are excessive, anxiety-evoking thoughts and compulsive behaviours that are generally recognized as unreasonable, but which cause significant distress and impairment. OCD may also occur in the context of other neuropsychiatric disorders, most commonly other anxiety and mood disorders. The question remains as to whether these combinations of disorders should be regarded as independent, cooccurring disorders or as different manifestations of an incompletely understood constellation of OCD spectrum disorders with a common aetiology.ObjectivesTo review critically whether there is a robust basis for the concept of an obsessive–compulsive (OC) spectrum of disorders, and if so, which disorders should be included.MethodsLiterature review performed on PubMed and Google Scholar databases, using the keywords “obsessive–compulsive disorder”, “obsessive–compulsive spectrum”, “body dysmorphic disorder”, “hypochondriasis”, “trichotillomania”, “psychiatry”.ResultsObsessive–compulsive disorder (OCD) itself is a heterogeneous condition or group of conditions, and this needs to be appreciated in any articulation of a ‘spectrum’ of OC disorders. The basis for ‘membership’ of the spectrum is inconsistent and varied, with varying level of support for inclusion in the putative spectrum.ConclusionsA more fruitful approach may be to consider behaviours and dimensions in OCD and OC spectrum disorders, and that this should be encompassed in further developments of the OC spectrum model.Disclosure of InterestNone Declared