Noropsikiyatri Arsivi-Archives of Neuropsychiatry最新文献

As a neurologist who has followed up countless Parkinson's patients over the last 32 years of my fifty-year career; I denied diagnosing myself with Parkinson's disease (PD), although the seldom mild involuntary "twitches" that occurred in the thumb of my right hand over a two-year period, resembled Parkinson's disease tremor. However, when these involuntary contractions became persistent; considering its similarity to characteristic resting tremor in typical PD, the positive effect of dopaminergic medications, the development of levodopa-induced dyskinesias and other non-motor symptoms, it was clear that the PD diagnosis was accurate. This situation naturally caused me anxiety, and for a year and a half, I kept my diagnosis hidden from everyone except a few close relatives. However, with the encouragement of a psychiatrist friend, when I was able to share my condition with my loved ones, I felt a relative reduction in the burden I was carrying and consequently experienced emotional relief. I am still able to carry out my daily activities independently with a rather low dose of medication, and my PD symptoms do not attract noticeable attention.

[This corrects the article on p. 228 in vol. 58, PMID: 34526847.].

Introduction: Although the contribution of enhanced glial activity in seizure induction is increasingly recognized, the role of glia-induced neuroinflammation in the physiopathology of epileptic encephalopathy (EE) has been scarcely investigated.

Methods: To delineate the contribution of glial activity in EE, we measured levels of glia-derived mediators with previously described biomarker value, including glial fibrillary acidic protein (GFAP), high mobility group box 1 (HMGB1), chitinase-3-like protein 1 (CHI3L1), soluble CD163 (sCD163) and triggering receptor expressed on myeloid cells 2 (TREM2) by ELISA in sera of patients with idiopathic West syndrome (WS, n=18), idiopathic Lennox-Gastaut syndrome (LGS, n=13) and healthy controls (n=31).

Results: Patients with EE showed significantly higher CHI3L1 levels compared to healthy controls. Levels of HMGB1, CHI3L1, sCD163 and TREM2 were higher in LGS patients than WS patients and/or healthy controls. One or more of the investigated mediators were associated with treatment responsiveness, disease severity and presence of pathological features on electroencephalography (EEG).

Conclusions: To our knowledge, our findings provide the initial patient-based evidence that astrocyte- and microglia-mediated neuroinflammation might be involved in the pathogenesis of LGS and WS. Moreover, glial mediators may serve as prognostic biomarkers in patients with idiopathic EE.

Introduction: Unveiling the dynamic penumbra region represents another crucial stage in treating individuals with ischemic strokes. Our objective was to explore how collateral blood flow assessments using multiphasic (triphasic) CT angiography (mpCTA) and CT perfusion (CTP) examinations correlate with the expansion of infarcted areas and disability levels in patients with middle cerebral artery (MCA) M1 and M2 occlusion.

Methods: The research was carried out as a prospective, descriptive, case series study. mpCTA and CTP were performed while patients were referred to the emergency department. Baseline National Institutes of Health Stroke Scale (NIHSS), Modified Rankin Scale (mRS) and the Barthel Index for Activities of Daily Living at 3 months were calculated. The connection between perfusion parameters that represent penumbral information derived from CTP and collateral flow information obtained from mpCTA with infarct expansion and outcome was investigated.

Results: Thirty-six patients were included in the study. The mean age of the participants in the research was found 73.47±10.67. 52.8% of the individuals were male. 72.3% of the patients exhibited an unfavorable functional outcome according to mRS at 3 months. Based on the Menon collateral score from the mpCTA, the infarct expansion showed a statistically significant difference between the groups (p=0.037). The mRS scores at 3 months did not show a statistically significant difference between the groups according to the mpCTA Menon collateral score (p=0.073). Penumbra volume information obtained by using Tmax/CBV and CBF/CBV thresholds on CTP showed statistically significant differences among good and poor clinical outcome groups based on mRS at 3 months (respectively p=0.010, 0.029). The average MTT value within the penumbra obtained from the MTT/CBV map exhibited a statistically significant difference among the groups based on the mRS at 3 months (p=0.011). There was a weak but statistically significant relationship between the volume of the penumbra obtained from CTP maps created by selecting Tmax=6 sec and the infarct growth (p=0.028).

Conclusion: Final infarct volume and infarct growth can be predicted using collateral circulation data acquired through mpCTA. The patient's disability can be assessed by analyzing the penumbral MTT value and the penumbral volume data obtained from CTP maps generated using various threshold values. Moreover, penumbra volume obtained from CTP maps created by selecting Tmax as a threshold can give information about infarct growth.

Schizophrenia has a multifactorial etiology with a significant genetic component. Genome-wide association studies have identified common variants in candidate genes. However, the common variant can only account for a portion of the genetic variation underlying the disorder. Therefore, researchers suggest that rare variants may be one source of missing heritability in schizophrenia. We report the case of a 20-year-old male patient diagnosed with early-onset and ultra-treatment-resistant schizophrenia and mild intellectual disability and discuss certain rare genetic variants that may be involved in the etiology. He was hospitalized for the initiation of clozapine treatment and was referred to the department of genetics because he had macrocephaly, high arched palate, a prominent forehead, hearing impairment, and hyperpigmented skin lesions. The whole exome sequencing analysis revealed a heterozygous 4168G>A(p.Ala1390Thr) variant in exon 15 of KMT2D (Lysine N-Methyltransferase 2D) (NM_003482.4) gene, which is associated with Kabuki Syndrome. The variants in KMT2D have been reported to be associated with brain development and may play a role in schizophrenia. We discussed the relationship between schizophrenia and genetic variants detected in this case in light of the literature.

Inflammatory neurologic manifestations, both infectious and non-infectious, have been reported secondary to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2/COVID-19). However, the relationship of spinal tumor and COVID-19 longitudinally extensive transverse myelitis (LETM) coexistence has never been reported in our knowledge. The clinical presentation and response to treatment of a 24-year-old female patient diagnosed with COVID-19 LETM and anaplastic ependymoma are described in this case report. The Patient's cerebrospinal fluid COVID-19 antibody level was higher than serum and she was resistant to immunosuppressive treatment. The interaction between COVID-19 and spinal tumor was discussed in the light of the literature. It is thought that COVID-19 infection could trigger tumor growth in this patient. Also, this is the first case of anaplastic ependymoma and COVID-19 myelitis coexistence in the literature.