ABSTRACT
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 CytoScanTM 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 404â kbp microduplication in 2q13 (chr2â :â 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.
ABSTRACT
Substance-related disorders are the most frequent comorbidity in schizophrenia. Concretely, alcohol is the most commonly consumed substance after tobacco. Patients with schizophrenia with this comorbidity have a worse clinical course and can develop serious neuropsychiatric complications. One of them, Marchiafava-Bignami disease (MBD) can be incorrectly diagnosed as a decompensation of their mental disorder.
Subject(s)
Alcoholism , Marchiafava-Bignami Disease , Schizophrenia , Alcoholism/complications , Corpus Callosum , Humans , Magnetic Resonance Imaging , Marchiafava-Bignami Disease/complications , Schizophrenia/complicationsABSTRACT
Introducción: Los trastornos por abuso de sustancias sonla comorbilidad más frecuente en la esquizofrenia, siendo elalcohol, concretamente, la sustancia más frecuentementeconsumida tras el tabaco. Los pacientes con esquizofreniaque presentan esta comorbilidad presentan una peor evolución clínica y pueden desarrollar graves complicaciones neuropsiquiátricas. Una de ellas, la enfermedad de Marchiafava-Bignami (EMB), puede ser erróneamente diagnosticadacomo una descompensación del trastorno mental, conllevando graves consecuencias.Método. Se presenta el caso de un varón de 51 años,diagnosticado de esquizofrenia y trastorno por consumode alcohol. Experimentó síntomas neuropsiquiátricos agudos por los que se sospechó una descompensación de suesquizofrenia. Dada la presentación clínica atípica y susantecedentes médicos, se sospechó una patología orgánicay se realizó una prueba de imagen cerebral en la que sediagnosticó una EMB.Conclusiones. La EMB es una entidad clínica infrecuenteque debe formar parte del diagnóstico diferencial en pacientes con trastorno por consumo de alcohol que experimenten síntomas neuropsiquiátricos atípicos. (AU)
Introduction: Substance-related disorders are the mostfrequent comorbidity in schizophrenia. Concretely, alcohol isthe most commonly consumed substance after tobacco. Patients with schizophrenia with this comorbidity have a worseclinical course and can develop serious neuropsychiatriccomplications. One of them, Marchiafava-Bignami disease(MBD) can be incorrectly diagnosed as a decompensation oftheir mental disorder.Methods. A case of a 51-year-old man, diagnosed withschizophrenia and alcohol use disorder is presented. He experienced acute neuropsychiatric symptoms for which schizophrenia decompensation was suspected. Based on his atypical symptoms and medical history, a brain imaging test wasperformed and MBD was diagnosed.Conclusions. MBD is an infrequent clinical entity thatshould be part of differential diagnosis in patients with alcohol abuse disorder experiencing atypical neuropsychiatricsymptoms. (AU)
Subject(s)
Humans , Male , Middle Aged , Alcoholism/complications , Corpus Callosum , Fluorine-19 Magnetic Resonance Imaging , Marchiafava-Bignami Disease/complications , Schizophrenia/complications , PatientsABSTRACT
Overweight during childhood constitutes a high-risk factor for adult obesity. An abnormal attention to food stimuli (i.e., a bias) has been suggested as an underlying mechanism to the onset and/or maintenance of obesity. Previous literature supports the existence of a biased attention toward food stimuli in adults with obesity. However, it is unknown whether this attentional bias occurs in high-risk children for adult obesity. We aimed to examine attentional biases to food at different stages of attention processing in overweight children. A dot-probe task was applied to 25 children with overweight and 25 healthy-weight children (8-12â¯years old). Attentional preference to or avoidance of pleasant food stimuli, which were displayed simultaneously with pleasant non-food stimuli (matched in valence and arousal), was examined at 100-ms (initial visual orienting), 500-ms (attention engagement), and 1500-ms (maintained attention) presentation rates. Both children with overweight and healthy-weight children showed an attentional bias toward food images at a 100-ms presentation rate. However, unlike healthy-weight children, those with overweight showed an attentional preference toward food images at 500- and 1500-ms presentation rates. A biased initial orienting to food cues can be found regardless of weight. However, a biased attention engagement and a biased maintained attention toward food cues are characteristics of children with overweight. Therefore, as in adults, children at risk of adult obesity have an abnormal attentional processing of food stimuli.
Subject(s)
Appetite/physiology , Attentional Bias/physiology , Body Weight/physiology , Child , Cues , Female , Food , Humans , Male , Pediatric Obesity/psychology , Photic StimulationABSTRACT
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’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 “Ineffectiveness” 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.