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2.
BMJ Case Rep ; 17(2)2024 Feb 02.
Artigo em Inglês | MEDLINE | ID: mdl-38307623

RESUMO

SummaryThe common features of anti-N-methyl-d-aspartate (NMDA) receptor encephalitis are neuropsychiatric symptoms that are often challenging, treatment refractory and take years to recover. Electroconvulsive therapy (ECT) is effective in treating these symptoms in the acute phase, including catatonia and psychiatric issues.We describe the case of a man in his 30s with anti-NMDA receptor encephalitis characterised by neuropsychiatric features and treatment-refractory impulsivity, who was successfully treated with ECT. This case suggests that ECT use for behavioural symptoms can be associated with a significant response and may contribute to faster recovery from the disease.


Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato , Catatonia , Eletroconvulsoterapia , Masculino , Humanos , Encefalite Antirreceptor de N-Metil-D-Aspartato/diagnóstico , Catatonia/complicações
3.
Mol Genet Genomic Med ; 10(3): e1876, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35092358

RESUMO

BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS) is a rare disorder characterized by neurodevelopmental delays, seizures, and diverse physical characteristics. The DNA methylation (DNAm) profile in NCBRS is significantly different. DNAm is linked to the biological aging of cells and the health risks associated with biological aging. In this study, we examined changes in biological ages in NCBRS to provide insights into the prognosis and health risks of NCBRS. METHODS: We used a publicly available dataset to examine biological aging in NCBRS using DNAm-based epigenetic ages, such as PhenoAge and GrimAge, as well as DNAm-based estimator of telomere length (DNAmTL). We investigated 12 cases, clinically diagnosed as NCBRS, and 27 controls. RESULTS: Compared to controls, NCBRS cases exhibited significantly accelerated PhenoAge and GrimAge as well as significantly shortened DNAmTL. CONCLUSION: These results suggest an acceleration of biological aging in NCBRS and provide insights into the prognosis and health risks of NCBRS.


Assuntos
Metilação de DNA , Encurtamento do Telômero , Epigênese Genética , Fácies , Deformidades Congênitas do Pé , Humanos , Hipotricose , Deficiência Intelectual , Telômero/genética
4.
PCN Rep ; 1(1): e5, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37520186

RESUMO

Aim: The aim of this study was to investigate the mental health status of healthcare workers and medical students during the early phase of the COVID-19 pandemic. Methods: An online questionnaire was administered to 637 students and 3189 healthcare workers from May to July, 2020. The patient healthcare questionnaire-9 (PHQ-9) and state anxiety (A-State) of the state-trait anxiety inventory-form (STAI) were used to assess depression and anxiety symptoms, respectively. Individuals were categorized into severe (15 or higher) depression and severe (50-51 or higher) anxiety groups. Results: Healthcare workers and those taking care of COVID-19 patients had a higher risk of severe depression (PHQ-9 scores >15) than other comparison groups. Students and men also had a higher risk of severe anxiety (STAI > 50-51). Multivariable logistic regression analysis showed that healthcare workers had a fivefold higher risk of developing severe depression symptoms (adjusted odds ratio [OR] = 4.99, confidence interval [CI] 2.24-5.97, P-value < 0.001) and those taking care of COVID-19 patients had 2.8-fold higher risk of developing severe depression symptoms (OR 2.75, CI 1.36-5.53, P-value = 0.005). Conclusion: Both medical students and healthcare workers have been experiencing depression and anxiety symptoms during the first wave of the pandemic. Our findings showed a high rate of severe anxiety symptoms in medical students and a high rate of severe depression symptoms in healthcare workers. Those who treated COVID-19 patients were at greater risk of developing major depressive disorder than those who treated non-COVID-19 patients.

5.
Neuropsychopharmacol Rep ; 42(1): 42-51, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34889082

RESUMO

Metabolomics has been attracting attention in recent years as an objective method for diagnosing schizophrenia. In this study, we analyzed 378 metabolites in the serum of schizophrenia patients using capillary electrophoresis- and liquid chromatography-time-of-flight mass spectrometry. Using multivariate analysis with the orthogonal partial least squares method, we observed significantly higher levels of alanine, glutamate, lactic acid, ornithine, and serine and significantly lower levels of urea, in patients with chronic schizophrenia compared to healthy controls. Additionally, levels of fatty acids (15:0), (17:0), and (19:1), cis-11-eicosenoic acid, and thyroxine were significantly higher in patients with acute psychosis than in those in remission. Moreover, we conducted a systematic review of comprehensive metabolomics studies on schizophrenia over the last 20 years and observed consistent trends of increase in some metabolites such as glutamate and glucose, and decrease in citrate in schizophrenia patients across several studies. Hence, we provide substantial evidence for metabolic biomarkers in schizophrenia patients through our metabolomics study.


Assuntos
Transtornos Psicóticos , Esquizofrenia , Biomarcadores , Estudos de Casos e Controles , Cromatografia Líquida , Eletroforese Capilar , Humanos , Espectrometria de Massas/métodos , Esquizofrenia/diagnóstico
6.
Neuropsychiatr Dis Treat ; 17: 3315-3323, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34795483

RESUMO

BACKGROUND: Monoamine oxidase-A (MAO-A) decomposes dopamine and serotonin, and decreased MAO-A expression increases monoamine levels and is related to the pathophysiology of schizophrenia. Previous studies have reported that variable number of tandem repeats (VNTR), namely, upstream (u)VNTR, and some single nucleotide polymorphisms (SNPs) in the MAOA gene are associated with schizophrenia. METHODS: We investigated the two VNTRs and their related SNPs (rs6323 and rs1137070) in the MAOA gene promoter in 859 patients with schizophrenia and 826 healthy controls. Distal (d)VNTR and uVNTR were genotyped with fluorescence-based fragment polymerase chain reaction assays, and rs6323 and rs1137070 with TaqMan SNP genotyping assays. RESULTS: Neither the genotype nor allelic frequency of the VNTRs or SNPs showed significant differences between the schizophrenia and control groups. On the other hand, analysis of the dVNTR-uVNTR-rs6323-rs1137070 haplotype showed significant association for nine repeats (9R)-3R-T-C in female patients (corrected p = 0.0006, odds ratio [confidence interval] = 2.17 [1.446-3.257]). CONCLUSION: Our findings provide novel evidence that MAOA gene polymorphisms are associated with an increased risk of developing schizophrenia in females.

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