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1.
Brain Sci ; 14(6)2024 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-38928594

RESUMO

Panic disorder (PD) and focal epilepsy, in particular, temporal lobe epilepsy, often present diagnostic challenges due to overlapping clinical manifestations. This article describes the case of a 25-year-old female, misdiagnosed with PD for 15 years, whose recurring episodes of sudden fear, palpitations, and nausea were later identified as manifestations of focal epilepsy. Initially unresponsive to conventional anti-anxiety medications, the patient's correct diagnosis was only established through comprehensive electro-clinical, neuropsychological, and neuroimaging evaluations during her admission to our research hospital. Long-term video-EEG monitoring (LTVEM) played a pivotal role in identifying the epileptic nature of her episodes, which were characterized by paroxysmal activity in the right temporal and zygomatic regions, consistent with the location of a dysplastic lesion in the right amygdala, as revealed by high-resolution magnetic resonance imaging. These findings underline the importance of considering focal epilepsy in the differential diagnosis of PD, especially in cases refractory to standard psychiatric treatments. The misdiagnosis of epilepsy as PD can lead to significant delays in appropriate treatment, potentially exacerbating the patient's condition and affecting their quality of life. This case emphasizes the necessity of a multidisciplinary approach and the utilization of advanced diagnostic tools like LTVEM in elucidating the underlying causes of paroxysmal psychiatric symptoms.

2.
Nat Commun ; 15(1): 3342, 2024 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-38688917

RESUMO

The polygenic architecture of schizophrenia implicates several molecular pathways involved in synaptic function. However, it is unclear how polygenic risk funnels through these pathways to translate into syndromic illness. Using tensor decomposition, we analyze gene co-expression in the caudate nucleus, hippocampus, and dorsolateral prefrontal cortex of post-mortem brain samples from 358 individuals. We identify a set of genes predominantly expressed in the caudate nucleus and associated with both clinical state and genetic risk for schizophrenia that shows dopaminergic selectivity. A higher polygenic risk score for schizophrenia parsed by this set of genes predicts greater dopamine synthesis in the striatum and greater striatal activation during reward anticipation. These results translate dopamine-linked genetic risk variation into in vivo neurochemical and hemodynamic phenotypes in the striatum that have long been implicated in the pathophysiology of schizophrenia.


Assuntos
Corpo Estriado , Dopamina , Esquizofrenia , Humanos , Dopamina/metabolismo , Dopamina/biossíntese , Esquizofrenia/genética , Esquizofrenia/metabolismo , Masculino , Feminino , Corpo Estriado/metabolismo , Adulto , Núcleo Caudado/metabolismo , Transdução de Sinais , Pessoa de Meia-Idade , Hipocampo/metabolismo , Herança Multifatorial , Predisposição Genética para Doença , Córtex Pré-Frontal Dorsolateral/metabolismo , Recompensa
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