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BACKGROUND: Peripheral gene expression of several molecular pathways has been studied in major depressive disorder (MDD) with promising results. We sought to investigate some of these genes in a treatment-free Latino sample of Mexican descent. MATERIAL AND METHODS: The sample consisted of 50 MDD treatment-free cases and 50 sex and age-matched controls. Gene expression of candidate genes of neuroplasticity (BDNF, p11, and VGF), inflammation (IL1A, IL1B, IL4, IL6, IL7, IL8, IL10, MIF, and TNFA), the canonical Wnt signaling pathway (TCF7L2, APC, and GSK3B), and mTOR, was compared in cases and controls. RNA was obtained from blood samples. We used bivariate analyses to compare subjects versus control mean mRNA quantification of target genes and lineal regression modelling to test for effects of age and body mass index on gene expression. RESULTS: Most subjects were female (66%) with a mean age of 26.7 (SD 7.9) years. Only GSK3B was differentially expressed between cases and controls at a statistically significant level (p = 0.048). TCF7L-2 showed the highest number of correlations with MDD-related traits, yet these were modest in size. DISCUSSION: GSK3B encodes a moderator of the canonical Wnt signaling pathway. It has a role in neuroplasticity, neuroprotection, depression, and other psychiatric phenotypes. We found that adding population diversity has the potential to elicit distinct peripheral gene expression markers in MDD and MDD-related traits. However, our results should only be considered as hypothesis-generating research that merits further replication in larger cohorts of similar ancestry.
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BACKGROUND: Several studies have reported that variants rs16969968 G>A of the CHRNA5 gene and CYP2A6*12 of the CYP2A6 gene are associated with smoking and smoking refusal, respectively. In addition, some studies report that a higher cigarette consumption is associated with low body mass index (BMI). AIM: To analyze the allele and genotypic frequencies of these variants and their impact on smoking and BMI. MATERIAL AND METHODS: A blood sample was obtained and a survey about smoking habits was answered by 319 university students aged 18 to 35 years (127 women, 171 smokers), living in Northeastern Mexico. Genetic variants were studied by polymerase chain reaction/restriction fragment length polymorphism and their frequencies were associated with smoking and BMI. RESULTS: No associations were found between the analyzed variants and smoking in the study groups. However, there was an association among non-smoking subjects between the A allele of rs16969968 and high a BMI (p < 0.01). CONCLUSIONS: This last variant may be involved in food-addiction disorders.
Assuntos
Índice de Massa Corporal , Citocromo P-450 CYP2A6/genética , Frequência do Gene , Proteínas do Tecido Nervoso/genética , Receptores Nicotínicos/genética , Fumar/genética , Adolescente , Adulto , Estudos Transversais , Feminino , Variação Genética/genética , Genótipo , Humanos , Masculino , México , Nicotina/metabolismo , Reação em Cadeia da Polimerase/métodos , Polimorfismo Genético/genética , Adulto JovemRESUMO
BACKGROUND: Dyke-Davidoff-Masson syndrome is an uncommon constellation of radiological and clinical findings. Few reports describe co-occurring psychiatric manifestations. Systemic lupus erythematosus is a systemic disease with vascular, neurologic, and psychiatric involvement. To the best of our knowledge, no case reports have been made associating these entities. CASE PRESENTATION: We present the case of a 21-year-old Mexican mestizo woman with a history of systemic lupus erythematosus diagnosed at 4 years of age, who developed focal impaired awareness seizures when she was 8-years old, which became treatment-resistant at age 15. Two years prior to our evaluation, she developed deep vein thrombosis; clinical and laboratory criteria were met to diagnose secondary antiphospholipid syndrome. After being treated with anticonvulsants, glucocorticoids, and immunosuppressants with only a partial response, she developed a severe major depressive episode 1 year prior to our assessment, including two suicide attempts. She was referred to the out-patient clinic of our department for evaluation; intellectual disability, depressive symptoms, and behavioral symptoms were documented. Imaging studies revealed structural abnormalities in the left cerebral hemisphere: cortical atrophy, enlargement of sulci and cisternal spaces, and hyperpneumatization of the frontal sinus. Treatment with an antidepressant was initiated and maintained for 1 year, added to anticonvulsants and immunosuppressants. Depressive and behavioral symptoms diminished and no suicidal ideation has been noted at follow-up. CONCLUSIONS: Dyke-Davidoff-Masson syndrome was diagnosed, accompanied by clinical symptoms previously reported as epilepsy and intellectual disability. This case report illustrates the complexity of syndrome presentation in an adult female, constituting a diagnostic and therapeutic challenge. This constellation of symptoms and structural brain abnormalities should be kept in mind in patients with neuropsychiatric manifestations and systemic diseases with central nervous system involvement, especially when diagnosed at a young age.
Assuntos
Encefalopatias/diagnóstico , Transtorno Depressivo/diagnóstico , Deficiência Intelectual/diagnóstico , Lúpus Eritematoso Sistêmico/complicações , Convulsões/diagnóstico , Encefalopatias/complicações , Cérebro/diagnóstico por imagem , Cérebro/patologia , Transtorno Depressivo/complicações , Feminino , Humanos , Deficiência Intelectual/complicações , Convulsões/complicações , Síndrome , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
Abstract Introduction Factors affecting the quality of physician care include a shortage of trained staff, stigma, and discrimination. Objective The objective was to compare the intensity of stigmatization before and after a Psychiatry course, as measured by the scale of clinicians' attitudes towards mental illness, a version for medical students (MICA-2) designed to identify stigmatic attitudes towards mental disorders. Method The fifth-year Medicine students enrolled in the Psychiatry course answered anonymously using the MICA-2 test at the start and the end of their course. Additionally, we asked the students to answer a question about their interest in learning more about mental illness. Results Three hundred and thirty students were invited; 300 agreed to participate in the first application of the scales, and 291 in the follow-up. The average age was 22 ± 2 years, with a range of 20-30 years, and there was a similar gender distribution in both applications. In the initial application, the average score of the MICA-2 was 41.34 (SD = 7.86, 95% CI = [40.43, 42.25]). The follow-up application's mean was 37.10 (SD = 8.15, 95% CI = [36.30, 38.15]). Also, there was a decrease in interest in learning more about mental illness. Discussion and conclusion A reduction in the average scores of the MICA-2 was observed after a Psychiatry course, suggesting that attitudes toward mental disorders improved. A Psychiatry clerkship with close supervision modified the attitudes of medical students toward mental disorders. However, it did not increase their interest in learning more about mental illness.
Resumen Introducción Los factores que afectan la calidad de la atención médica incluyen: la escasez de personal capacitado, el estigma y la discriminación. Objetivo El objetivo fue comparar la intensidad de la estigmatización antes y después del curso de Psiquiatría, se utilizó la escala de las actitudes de los clínicos hacia la enfermedad mental, versión para estudiantes médicos (MICA-2), diseñada para identificar actitudes estigmatizantes hacia los trastornos mentales. Método Los estudiantes médicos de quinto año que tomaban el curso de Psiquiatría respondieron de forma anónima la escala MICA-2 al inicio y al final del curso. Además, se les preguntó sobre su interés en aprender más sobre los trastornos mentales. Resultados Se invitaron a 330 estudiantes; 300 aceptaron participar en la primera aplicación de las escalas y 291 en el seguimiento. La edad promedio fue de 22 ± 2 años, con un rango de 20-30 años; con una distribución de género similar en ambas aplicaciones. En la aplicación inicial, la puntuación media del MICA-2 fue de 41.34 (DE = 7.86, IC 95% = [40.43, 42.25]). En la de seguimiento, la media fue de 37.10 (DE = 8.15, IC 95% = [36.30, 38.15]). El interés en aprender más sobre los trastornos mentales disminuyó. Discusión y conclusión Observamos una reducción en los puntajes promedio después de tomar el curso de Psiquiatría, lo que sugiere que las actitudes hacia los trastornos mentales mejoraron. Un curso de Psiquiatría con mayor disposición y supervisión estrecha modificó las actitudes hacia los trastornos mentales de los estudiantes médicos, pero su interés en aprender más sobre los trastornos mentales disminuyó.
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Background: Several studies have reported that variants rs16969968 G>A of the CHRNA5 gene and CYP2A6*12 of the CYP2A6 gene are associated with smoking and smoking refusal, respectively. In addition, some studies report that a higher cigarette consumption is associated with low body mass index (BMI). Aim: To analyze the allele and genotypic frequencies of these variants and their impact on smoking and BMI. Material and Methods: A blood sample was obtained and a survey about smoking habits was answered by 319 university students aged 18 to 35 years (127 women, 171 smokers), living in Northeastern Mexico. Genetic variants were studied by polymerase chain reaction/restriction fragment length polymorphism and their frequencies were associated with smoking and BMI. Results: No associations were found between the analyzed variants and smoking in the study groups. However, there was an association among non-smoking subjects between the A allele of rs16969968 and high a BMI (p < 0.01). Conclusions: This last variant may be involved in food-addiction disorders.