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According to the neurodevelopmental hypothesis of schizophrenia, genetic predisposing factors cause abnormalities in neural functions, leading to the disease. A 2-year follow-up of a young woman with schizophrenia is presented. Karyotype, Affymetrix CytoScan TM 750K SNP array, and optical genome mapping ultra-high molecular weight were carried out. The case presented a severe and resistant to treatment schizophrenia. A 404 kbp microduplication in 2q13 (chr2 : 112088944-112492811; Hg19) was revealed, which includes an only gene ( MIR4435-2HG , OMIM 617144). The Positive and Negative Syndrome Scale of Schizophrenia questionnaire showed a moderate improvement after 2 years, but functioning was still poor. The presented case had a microduplication of copy number variants at 2q13, previously linked to schizophrenia, but it only involved one gene, encoding a microRNA, which regulates the expression of candidate genes associated to neurodevelopment. This case provides further evidence of the importance of microRNA in the pathogenesis of schizophrenia., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Objective: The determination of soft signs can be a conducive practice to understand the differential etiology between depression and anxiety. This study aims at examining malleolar hypoesthesia role in distinguishing between patients with generalised anxiety disorder (GAD) and major depression disorder (MDD). Methods: This study examines the presence of malleolar hypoesthesia in patients with GAD ( n  = 47) compared to patients with MDD ( n  = 48) and healthy individuals (controls; n  = 99). The Wartenberg wheel, a medical device for neurological use, was employed to determine the presence of hypoesthesia on both sides of the ankles. Results: The data revealed: i) MDD patients showed higher hypoesthesia than GAD patients ( p  = .008), ii) participants with hypoesthesia had higher anxiety and depression scores than participants without hypoesthesia (all p  < .001) and iii) logistic regression model indicated that hypoesthesia can be a predictor of MDD relative to GAD diagnosis (Odds Ratio: 17.43 (1.40-217.09; p  = .026)). Conclusions: Malleolar hypoesthesia was higher in MDD than GAD. The detection of hypoesthesia may help to investigate the differential etiology between MDD and GAD diagnosis.

significantly increase during puberty. The goal of this research is to evaluate changes during puberty which could have genetic and environmental influences on a broad spectrum of disordered eating attitudes and behaviors. Methods. Participants were 158 pairs of adolescent female twins, categorized in two groups according to menarche stage (pre or post). ED measures: Disordered eating attitudes and behaviors were assessed by means of the Children&#8217;s Eating Attitudes Test and four sub-scales of the Eating Disorders Inventory: Drive for thinness, Body dissatisfaction, Ineffectiveness, and Perfectionism. Intra-class correlations in monozygotic (MZ) and dizygotic (DZ) twins were calculated separately in premenarche and premenarche group for each ED subscale Results. 48 premenarche twins (30 MZ twins and 18 DZ twins) and 110 premenarche twins (66 MZ and 44 DZ twins) were included. The intra-class correlations suggested no genetic influence on the total ChEAT score of participants at the premenarche stage. For the premenarche participants, however, sources of variance suggested a very high heritability. Regarding the EDI sub-scales, only the trait &#8220;Ineffectiveness&#8221; exhibited a moderate heritability among premenarche subjects, while all the four eating sub-scales showed moderate heritability estimates in the premenarche stage group. Conclusions. Our findings reveal that there are significant differences in genetic and environmental effects on eating attitudes and behaviors depending on being in a premenarche or premenarche stage. Therefore, clinicians should pay attention to female adolescents at high risk of developing ED, especially during the critical period of menarche.

Introduction: The heritability of eating disorders has been estimated to range from 22% to over 62%.The aim of this study is to determine the relative influence of genetics and environment that contribute to the drive for thinness, body dissatisfaction, perfectionism, and ineffectiveness, by evaluating sex differences in a sample of adolescent twins from Valencia, Spain., Material and Methods: Five hundred eighty-four pairs of adolescent twins between 13 and 18 years of age completed the study. To determine zygosity, teachers responded to a questionnaire on physical similarity. Psychological traits of eating disorders were assessed with four sub-scales of the Eating Disorder Inventory (EDI); drive for thinness, body dissatisfaction, perfectionism, and ineffectiveness. Twin models were used to assess genetic and environmental (common and unique) factors affecting these four psychological traits., Results: All four traits showed significant genetic contributions among girls, with heritability estimates of 37.7% for ineffectiveness, 42.8% for perfectionism, 56.9% for drive for thinness, and 65.5% for body dissatisfaction. Among boys, body dissatisfaction showed no additive genetic contributions, indicating significant shared and individual specific environment effects. The three other traits in boys showed significant additive genetic contributions, but were lower than in girls., Conclusions: With the exception of body dissatisfaction in boys, psychological traits of eating disorders show heritability patterns that differ according to sex., (Copyright © 2014 SEP y SEPB. Publicado por Elsevier España, S.L.U. All rights reserved.)

Psychiatric symptoms must be considered in patients with refractory temporal lobe epilepsy after epilepsy surgery. The main objectives of our study were to describe clinical and socio-demographical characteristics of a cohort of patients with pharmacoresistant temporal lobe epilepsy who underwent temporal lobe epilepsy surgery, and moreover, to evaluate possible risk factors for developing psychiatric symptoms. In order to achieve those goals, we conducted a prospective evaluation of psychopathology throughout the first year after surgery in a clinical sample of 72 patients, by means of three clinical rated measures; the Hamilton Anxiety Rating Scale (HARS), the Hamilton Depression Rating Scale (HDRS), and the Brief Psychiatric Rating Scale (BPRS). The psychopathological evaluations were performed by an experienced psychiatrist. A presurgical evaluation was done by a multidisciplinary team (that includes neurologist, psychiatrist, neurosurgeon, neurophysiologist, radiologists, and nuclear medicine specialist) in all patients. The decision to proceed to surgery was taken after a surgical meeting of all members of the Multidisciplinary Epilepsy Unit team. The psychiatrist conducted two postoperative assessments at 6months and 12months after surgery. The main finding was that past history of mental illness (patients who were receiving psychiatric treatment prior to the baseline evaluation) was a risk factor for anxiety, depression, and psychosis after temporal lobe epilepsy surgery., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Background and Objective: Twin and family studies support large genetic influences on variability in body mass index (BMI), with heritability estimates ranging from 47% to over 90%. Our objective was to study the relative contributions of genetics and environment to BMI, evaluating sex differences, in an adolescent twin sample from Valencia, Spain., Material and Methods: Five hundred eighty-four pairs of adolescent twins between 13 and 18 years of age completed the study (82 monozygotic [MZ] and 87 dizygotic [DZ] pairs of male twins, 118 MZ and 102 DZ pairs of female twins, and 195 opposite-sex pairs of DZ twins). To determine zygosity, teachers responded a questionnaire on physical similarity. They also measured the participant's height and weight. BMI was calculated and weight status was determined according to age. We used twin models to assess genetic and environmental (common and unique) factors affecting BMI., Results: There was a 7.1% frequency of overweight and 2.8% of obesity. The estimated heritability of BMI was 88.0% in boys and 72.1% in girls, with the remaining variance attributable to non-shared environment in boys (12.0%) and 8.8% in girls. It was only in girls that common environment had an effect on BMI., Conclusions: Genetics appears to play an important role in explaining the variability in BMI in the adolescence, with slight variations between boys and girls. Common environmental factors exert their influence on BMI only in girls., (Copyright © 2014 Elsevier España, S.L.U. All rights reserved.)

Introduction: Little work has been done on the contents of psychiatric consultancies in prisons., Aims: To explore the sociodemographic, clinical and treatment profile of the patients who were assessed in the psychiatric consultancy of three prisons., Methods: This is a prospective, longitudinal, descriptive and multicenter-based epidemiological study of patients who were assessed in the psychiatric consultacy of three prisons in the Autonomous Community of Valencia from 2009 to 2011. Sociodemographic, clinical and prison data was obtained from each patient. Their frequency was compared with Pearson's Ji² and averages with the ANOVA test or with The Kruskall-Wallis method. The probability of keeping the patients in schedule was calculated with Kaplan-Meier's curves and differences with the Mantel-Haenzsel method (Logrank) were established. A logistic regression model was designed to determine the data linked to frequent users., Results: 786 patients were assessed in 2,006 visits (2.5 visits/patient). 90% were male, 88.2% Spanish and their average age was 36 years. 29.9% suffered from an infectious chronic pathology. 69.5% used some kinds of substance. 59.2% suffered from personality disorder and 11.6% from the spectrum of schizophrenia. The most frequent medical profiles were: 49.1% with anxiety disorder, 20.8% depressive disorder and 11.7% psychotic disorder. These psychotic disorders meant a greater probability of 1.5 times for maintaining in schedule. The most commonly prescribed medications were quetiapine, mirtazapine, pregabalin and diazepam., Conclusion: There is a high prevalence of mental disorders in prisons. It is necessary to improve the available resources to deal with these pathologies in the most effective way.