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1.
Psychiatr Genet ; 34(5): 111-114, 2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-39011718

RESUMO

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.


Assuntos
MicroRNAs , Esquizofrenia , Humanos , Feminino , MicroRNAs/genética , Esquizofrenia/genética , Adulto , Cromossomos Humanos Par 2/genética , Variações do Número de Cópias de DNA/genética , Polimorfismo de Nucleotídeo Único/genética , Predisposição Genética para Doença
2.
Actas Esp Psiquiatr ; 49(5): 228-231, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34533206

RESUMO

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.


Assuntos
Alcoolismo , Doença de Marchiafava-Bignami , Esquizofrenia , Alcoolismo/complicações , Corpo Caloso , Humanos , Imageamento por Ressonância Magnética , Doença de Marchiafava-Bignami/complicações , Esquizofrenia/complicações
3.
Actas esp. psiquiatr ; 49(5): 228-231, septiembre 2021. ilus
Artigo em Espanhol | IBECS | ID: ibc-207667

RESUMO

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)


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Alcoolismo/complicações , Corpo Caloso , Imagem por Ressonância Magnética de Flúor-19 , Doença de Marchiafava-Bignami/complicações , Esquizofrenia/complicações , Pacientes
4.
Appetite ; 161: 105134, 2021 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-33484788

RESUMO

Overweight in childhood is a risk factor in developing obesity as an adult, thus having severe consequences on the individuals' physical health and psychological well-being. Therefore, studying the cognitive and emotional processes that sustain overweight is essential not only at a theoretical level but also to develop effective interventions. In the present experiment, we examined whether children with overweight respond faster to food-related than non-food-related words in a word recognition task: lexical decision. The participants were 24 children diagnosed with exogenous overweight and 24 children with a healthy weight. The stimulus list included positively valenced food-related words and positively valenced non-food-related words matched in a number of psycholinguistic variables-we also included negatively valenced non-food words. While children with a healthy weight showed similar response times to positively valenced food-related and non-food-related words, children with overweight showed much faster response times to food-related words than to non-food-related words. Furthermore, both children with overweight and children with a healthy weight responded faster to positive than to negative words. These findings suggest a complex interplay of cognitive and emotional factors during word processing that can be used to implement more effective treatments for childhood overweight.


Assuntos
Sobrepeso , Obesidade Infantil , Adulto , Criança , Emoções , Humanos , Tempo de Reação
5.
J Exp Child Psychol ; 185: 206-213, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31101361

RESUMO

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 (8-12 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.


Assuntos
Apetite/fisiologia , Viés de Atenção/fisiologia , Peso Corporal/fisiologia , Criança , Sinais (Psicologia) , Feminino , Alimentos , Humanos , Masculino , Obesidade Infantil/psicologia , Estimulação Luminosa
6.
Rev. psiquiatr. salud ment. (Barc., Ed. impr.) ; 12(1): 17-27, ene.-mar. 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-186901

RESUMO

Introducción: Existen discrepancias en la literatura sobre el papel de las burlas en la aparición de clínica alimentaria. El objetivo de este artículo es establecer la influencia de las burlas sobre la aparición de conductas alimentarias anómalas en una población adolescente. Material y métodos: Se trata de un estudio prospectivo a 2 años en el que participaron 7.167 adolescentes de entre 13 y 15 años. En una evaluación basal se estudió su exposición a burlas sobre el peso y sobre las capacidades, mediante el cuestionario POTS. Posteriormente, se analizó su asociación con psicopatología alimentaria (EAT) ulterior controlando el efecto del estado nutricional (IMC), la insatisfacción corporal, el impulso a la delgadez, el perfeccionismo (EDI), los síntomas emocionales y la hiperactividad (SDQ), también evaluados en la línea base. El análisis se hizo de manera independiente para ambos géneros. Resultados: El análisis multivariante descartó la existencia de un efecto significativo e independiente de las burlas sobre el peso y de las burlas sobre las capacidades sobre la aparición de psicopatología alimentaria posterior. Los modelos obtenidos fueron similares en ambos sexos, aunque en las chicas, a diferencia de los chicos, el control del IMC bastó para anular cualquier repercusión de las burlas. Conclusiones: Las burlas sobre el peso o sobre las capacidades carecen de efecto directo, en chicos y chicas de 13 a 15 años, sobre el desarrollo de psicopatología alimentaria posterior


Introduction: There are discrepancies in the literature about the role of teasing in the onset of eating pathology. This article aims to establish the influence of teasing in abnormal eating behaviors and attitudes in the adolescent population. Material and methods: This is a two-year prospective study conducted in 7,167 adolescents between 13 and 15 years of age. In a first assessment, teasing about weight and teasing about abilities were measured by means of the POTS.questionnaire. Its association with eating psychopathology after two years was analyzed controlling nutritional status (BMI), body dissatisfaction, drive to thinness, perfectionism (EDI), emotional symptoms and hyperactivity (SDQ) which had also been measured in the first assessment. The analysis was carried out independently for both genders. Results: The multivariant analysis found no significant or independent effect of teasing about weight or teasing about abilities in the onset of later eating psychopathology. The obtained models were similar for both genders although in girls, but not in boys, controlling BMI was enough to make any effect of teasing disappear. Conclusions: Teasing about weight or abilities has no direct effect, neither in boys nor in girls of 13 to 15 years old, in the development of eating psychopathology


Assuntos
Humanos , Masculino , Feminino , Adolescente , Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Bullying/psicologia , Aparência Física , Sobrepeso/psicologia , Psicometria/métodos , Fatores de Risco , Estudos Prospectivos , Agressão/psicologia , Análise Multivariada
7.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28818611

RESUMO

INTRODUCTION: There are discrepancies in the literature about the role of teasing in the onset of eating pathology. This article aims to establish the influence of teasing in abnormal eating behaviors and attitudes in the adolescent population. MATERIAL AND METHODS: This is a two-year prospective study conducted in 7,167 adolescents between 13 and 15 years of age. In a first assessment, teasing about weight and teasing about abilities were measured by means of the POTS.questionnaire. Its association with eating psychopathology after two years was analyzed controlling nutritional status (BMI), body dissatisfaction, drive to thinness, perfectionism (EDI), emotional symptoms and hyperactivity (SDQ) which had also been measured in the first assessment. The analysis was carried out independently for both genders. RESULTS: The multivariant analysis found no significant or independent effect of teasing about weight or teasing about abilities in the onset of later eating psychopathology. The obtained models were similar for both genders although in girls, but not in boys, controlling BMI was enough to make any effect of teasing disappear. CONCLUSIONS: Teasing about weight or abilities has no direct effect, neither in boys nor in girls of 13 to 15 years old, in the development of eating psychopathology.


Assuntos
Bullying/psicologia , Transtornos da Alimentação e da Ingestão de Alimentos/etiologia , Adolescente , Aptidão , Imagem Corporal/psicologia , Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Feminino , Humanos , Estudos Longitudinais , Masculino , Estudos Prospectivos , Fatores de Risco , Autoimagem
8.
Actas Esp Psiquiatr ; 46(5): 192-9, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30338776

RESUMO

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.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos/genética , Interação Gene-Ambiente , Menarca/genética , Adolescente , Estudos Transversais , Feminino , Humanos
9.
Actas esp. psiquiatr ; 46(5): 192-199, sept.-oct. 2018. tab
Artigo em Espanhol | IBECS | ID: ibc-174687

RESUMO

Introducción. La incidencia y heredabilidad de los trastornos de la conducta alimentaria (TCA) se incrementa durante la pubertad. El objetivo de la presente investigación fue evaluar los cambios en las influencias genéticas ambientales sobre un amplio espectro de actitudes y conductas alimentarias anómalas durante la pubertad. Metodología. participaron 160 parejas de gemelas adolescentes, que se categorizaron en dos grupos en función del estado de menarquia (pre y pos). Medidas de TCA: Las actitudes y conductas alimentarias anómalas fueron evaluadas mediante el ChEAT (Children's Eating Attitudes Test) y cuatro subescalas del EDI (Eating Disorders Inventory); Impulso a la delgadez, Insatisfacción corporal, Ineficacia y Perfeccionismo. Las correlaciones intrapareja en gemelas MZ (monozigotas) y DZ (dizigotas) se calcularon por separado en los grupos de premenarquia y posmenarquia para cada medida de TCA. Resultados. Cuarenta y ocho gemelas premenarquia (30 MZ y 18 DZ) y 110 gemelas posmenarquia (66 MZ y 44 DZ). Las correlaciones sugirieron que no hay una influencia genética en la puntuación total del ChEAT en las niñas en estado premenarquia, mientras que en las niñas posmenarquia el porcentaje de la varianza para las influencias genéticas es elevado. En relación a las subescalas del EDI, únicamente la variable "Ineficacia" mostró una moderada heredabilidad en las niñas en estadio premenarquia, mientras que las cuatro actitudes alimentarias mostraron una moderada heredabilidad en el grupo de niñas posmenarquia. Conclusiones. Nuestro abordaje revela cambios significativos relacionados con la menarquia en las contribuciones de las influencias genéticas y ambientales sobre las conductas y actitudes alimentarias anómalas. Los clínicos deberían centrar su atención en las niñas adolescentes con alto riesgo de desarrollar TCA especialmente durante el periodo crítico de la menarquia


Background. Eating disorders' incidence and heritability 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


Assuntos
Humanos , Feminino , Adolescente , Transtornos da Alimentação e da Ingestão de Alimentos/epidemiologia , Menarca/fisiologia , Puberdade/genética , Nutrição do Adolescente , Fenômenos Fisiológicos da Nutrição do Adolescente/genética , Doenças em Gêmeos/genética , Gêmeos/genética , Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Menarca/psicologia , Transtornos da Alimentação e da Ingestão de Alimentos/genética , Índice de Massa Corporal , Puberdade/psicologia
10.
Rev. psiquiatr. salud ment ; 10(3): 134-142, jul.-sept. 2017. tab
Artigo em Espanhol | IBECS | ID: ibc-164800

RESUMO

Introducción. La heredabilidad de los trastornos de la conducta alimentaria, como la anorexia nerviosa y la bulimia nerviosa, se ha estimado alrededor del 22% al 62%. El objetivo del presente trabajo es determinar la influencia de los factores genéticos y ambientales que contribuyen en la expresión de los factores psicológicos medidos a través del Eating Disorders Inventory, en función del sexo, en adolescentes de la Comunidad Valenciana (España). Material y métodos. Quinientas ochenta y cuatro parejas de gemelos de 13 a 18 años de edad. Para determinar la cigosidad los profesores rellenaron un cuestionario de similitud física. Se aplicaron las subescalas del Eating Disorders Inventory, impulso a la delgadez, insatisfacción corporal, perfeccionismo e ineficacia. Se ha realizado una modelización de las mismas para establecer los componentes genéticos y ambientales (comunes y específicos) de su varianza. Resultados. En las niñas las 4 variables mostraron un componente de heredabilidad, del 37,7% para la ineficacia, del 42,8% para el perfeccionismo, del 56,9% para el impulso a la delgadez y del 65,5% para la insatisfacción corporal. En los niños se descarta una influencia genética para la insatisfacción corporal, que aparece influenciada exclusivamente por factores ambientales. El resto de variables mostraron un componente heredable, pero en menor medida que en las niñas. Conclusiones. A excepción de la IC en niños, las actitudes y comportamientos alimentarios muestran un patrón parcialmente heredable, que varía en función del sexo (AU)


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 (AU)


Assuntos
Humanos , Masculino , Feminino , Adolescente , Comportamento Alimentar/psicologia , Transtornos da Alimentação e da Ingestão de Alimentos/complicações , Transtornos da Alimentação e da Ingestão de Alimentos/genética , Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Diagnóstico Precoce , Fatores de Risco , Gêmeos/psicologia , Comportamento do Adolescente/psicologia , Psiquiatria do Adolescente/métodos
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