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Amyloid-ß (Aß) and tau are important biomarkers to predict the progression of cognitively unimpaired (CU) to dementia due to Alzheimer's disease (AD), according to the diagnosis framework from the US National Institute on Aging and the Alzheimer's Association (NIA-AA). However, it is clinically difficult to predict those subjects who were already with Aß positive (A +) or tau positive (T +). As a typical characteristic of neurodegeneration in the diagnosis framework, the hypometabolism of the posterior cingulate cortex (PCC) has significant clinical value in the early prediction and prevention of AD. In this paper, we proposed the glucose metabolism in the PCC as a biomarker supplement to Aß and tau biomarkers. First, we calculated the standard uptake value ratio (SUVR) of PCC based on fluorodeoxyglucose positron emission computed tomography (FDG PET) imaging. Secondly, we performed Kaplan-Meier (KM) survival analyses to explore the predictive performance of PCC SUVR, and the hazard ratio (HR) was calculated. Finally, we performed Pearson correlation analyses to explore the physiological significance of PCC SUVR. As a result, the PCC SUVR showed a consistent downward trend along the AD continuum. KM analyses showed better predictive performance when we combined PCC SUVR with cerebro-spinal fluid (CSF) Aß42 (from HR = 2.56 to 3.00 within 5 years; from HR = 2.76 to 4.20 within 10 years) and ptau-181 (from 2.83 to 3.91 within 5 years; from HR = 2.32 to 4.17 within 10 years). There was a slight correlation between Aß42/Aß40 and PCC SUVR (r = 0.14, p = 0.02). In addition, several cognition scales were also correlated to PCC SUVR (from r = -0.407 to 0.383, p < 0.05). Our results showed that glucose metabolism in PCC may be a potential biomarker supplement to the Aß and tau biomarkers to predict the progression of CU to AD.
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Doença de Alzheimer , Humanos , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/metabolismo , Fluordesoxiglucose F18/metabolismo , Giro do Cíngulo/diagnóstico por imagem , Giro do Cíngulo/metabolismo , Peptídeos beta-Amiloides/metabolismo , Biomarcadores/metabolismo , Glucose/metabolismoRESUMO
INTRODUCTION: It remains unclear whether functional brain networks are consistently altered in individuals with subjective cognitive decline (SCD) of diverse ethnic and cultural backgrounds and whether the network alterations are associated with an amyloid burden. METHODS: Cross-sectional resting-state functional magnetic resonance imaging connectivity (FC) and amyloid-positron emission tomography (PET) data from the Chinese Sino Longitudinal Study on Cognitive Decline and German DZNE Longitudinal Cognitive Impairment and Dementia cohorts were analyzed. RESULTS: Limbic FC, particularly hippocampal connectivity with right insula, was consistently higher in SCD than in controls, and correlated with SCD-plus features. Smaller SCD subcohorts with PET showed inconsistent amyloid positivity rates and FC-amyloid associations across cohorts. DISCUSSION: Our results suggest an early adaptation of the limbic network in SCD, which may reflect increased awareness of cognitive decline, irrespective of amyloid pathology. Different amyloid positivity rates may indicate a heterogeneous underlying etiology in Eastern and Western SCD cohorts when applying current research criteria. Future studies should identify culture-specific features to enrich preclinical Alzheimer's disease in non-Western populations. HIGHLIGHTS: Common limbic hyperconnectivity across Chinese and German subjective cognitive decline (SCD) cohorts was observed. Limbic hyperconnectivity may reflect awareness of cognition, irrespective of amyloid load. Further cross-cultural harmonization of SCD regarding Alzheimer's disease pathology is required.
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Doença de Alzheimer , Disfunção Cognitiva , Humanos , Doença de Alzheimer/patologia , Peptídeos beta-Amiloides/metabolismo , Encéfalo/patologia , Estudos Transversais , População do Leste Asiático , Imageamento por Ressonância Magnética , Tomografia por Emissão de PósitronsRESUMO
Vertigo is a common neurological complaint, which can result in significant morbidity and decreased quality of life. While pathology to peripheral and subtentorial brain structures is a well-established cause of vertigo, cortical lesions have also been linked to vertigo and may lend insight into relevant neuroanatomy. Here, we investigate the supratentorial lesion locations associated with vertigo and test whether they map to a common brain network. We performed a systematic literature search and identified 23 cases of supratentorial brain lesions associated with vertigo. We mapped the lesion locations to a standard brain template and computed the network of brain regions functionally connected to each lesion location, using a 'wiring diagram' of the human brain termed the human connectome (n = 1000). Sensitivity was assessed by identifying the most common connection to lesion locations associated with vertigo, and specificity was assessed through comparison with control lesions associated with symptoms other than vertigo (n = 68). We found that functional connectivity between lesion locations and the bilateral ventral posterior insula was both sensitive (22/23 lesions) and specific (voxel-wise family-wise error-corrected P < 0.05) for lesion-induced vertigo. We computed connectivity with this hub region to define a lesion-based vertigo network, which included regions in the bilateral insula, somatosensory cortex, higher-level visual areas, cingulate sulcus, thalamus and multiple cerebellar regions in the territory of the posterior inferior cerebellar artery. Next, we used stereo-electroencephalography (80 stimulation sites across 17 patients) to test whether stimulation sites associated with vertigo mapped to this same network. We found that 36/42 (86%) of stimulation sites eliciting vertigo fell within the lesion-based vertigo network in contrast to 16/39 (41%) of stimulation sites that did not elicit vertigo. Connectivity between stimulation sites and our lesion-based hub in the ventral posterior insula was also significantly associated with vertigo (P < 0.0001). We conclude that cortical lesions and direct electrical stimulation sites associated with vertigo map to a common brain network, offering insights into the causal neuroanatomical substrate of vertigo.
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OBJECTIVE: Although clinical trials have demonstrated that cathodal transcranial direct current stimulation (tDCS) is effective for seizure reduction, its long-term efficacy is unknown. This study aimed to determine the long-term effects of repeated cathodal long tDCS sessions on seizure suppression in patients with refractory epilepsy. METHODS: Patients were recruited to participate in an extended phase of a previous randomized, double-blind, sham-controlled, three-arm, parallel, multicenter study on tDCS. The patients were divided into an active tDCS group (20 min of tDCS per day) and an intensified tDCS group (2 × 20 min of tDCS per day). Each tDCS session lasted 2 weeks and the patients underwent repeated sessions at intervals of 2 to 6 months. The cathode was placed over the epileptogenic focus with the current intensity set as 2 mA. Seizure frequency reduction from baseline was analyzed using the Wilcoxon signed-rank test for two related samples. A generalized estimating equation model was used to estimate group, time, and interaction effects. RESULTS: Among the 19 patients who participated in the extended phase, 11 were in the active tDCS group and underwent 2-16 active tDCS sessions, and eight were in the intensified tDCS group and underwent 3-11 intensified tDCS sessions. Seizure reduction was significant from the first to the seventh follow-up, with a median seizure frequency reduction of 41.7%-83.3% (p < 0.05). Compared to the regular tDCS protocol, each intensified tDCS session substantially decreased seizure frequency by 0.3680 (p < 0.05). One patient experienced an increase of 8.5%-232.8% in the total number of seizures during three treatment sessions and follow-ups. CONCLUSION: Repeated long cathodal tDCS sessions yielded significant and progressive long-term seizure reductions in patients with refractory focal epilepsy.
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Epilepsia Resistente a Medicamentos , Epilepsias Parciais , Estimulação Transcraniana por Corrente Contínua , Método Duplo-Cego , Epilepsia Resistente a Medicamentos/etiologia , Epilepsia Resistente a Medicamentos/terapia , Epilepsias Parciais/etiologia , Epilepsias Parciais/terapia , Humanos , Convulsões/etiologia , Convulsões/terapia , Estimulação Transcraniana por Corrente Contínua/métodosRESUMO
Treatment of depression with antidepressants is partly effective. Transcranial alternating current stimulation can provide a non-pharmacological alternative for adult patients with major depressive disorder. However, no study has used the stimulation to treat first-episode and drug-naïve patients with major depressive disorder. We used a randomized, double-blind, sham-controlled design to examine the clinical efficacy and safety of the stimulation in treating first-episode drug-naïve patients in a Chinese Han population. From 4 June 2018 to 30 December 2019, 100 patients were recruited and randomly assigned to receive 20 daily 40-min, 77.5 Hz, 15 mA, one forehead and two mastoid sessions of active or sham stimulation (n = 50 for each group) in four consecutive weeks (Week 4), and were followed for additional 4-week efficacy/safety assessment without stimulation (Week 8). The primary outcome was a remission rate defined as the 17-item Hamilton Depression Rating Scale (HDRS-17) score ≤ 7 at Week 8. Secondary analyses were response rates (defined as a reduction of ≥ 50% in the HDRS-17), changes in depressive symptoms and severity from baseline to Week 4 and Week 8, and rates of adverse events. Data were analysed in an intention-to-treat sample. Forty-nine in the active and 46 in the sham completed the study. Twenty-seven of 50 (54%) in the active treatment group and 9 of 50 (18%) in the sham group achieved remission at the end of Week 8. The remission rate was significantly higher in the active group compared to that in the sham group with a risk ratio of 1.78 (95% confidence interval, 1.29, 2.47). Compared with the sham, the active group had a significantly higher remission rate at Week 4, response rates at Weeks 4 and 8, and a larger reduction in depressive symptoms from baseline to Weeks 4 and 8. Adverse events were similar between the groups. In conclusion, the stimulation on the frontal cortex and two mastoids significantly improved symptoms in first-episode drug-naïve patients with major depressive disorder and may be considered as a non-pharmacological intervention for them in an outpatient setting.
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Transtorno Depressivo Maior , Estimulação Transcraniana por Corrente Contínua , Adulto , Depressão , Transtorno Depressivo Maior/tratamento farmacológico , Humanos , Estimulação Magnética Transcraniana , Resultado do TratamentoRESUMO
OBJECTIVE: The investigators aimed to explore the clinical characteristics, immunotherapy, and outcomes of patients with antileucine-rich glioma-inactivated-1 (anti-LGI1) encephalitis. METHODS: Data on participants' clinical characteristics, laboratory findings, radiological and electroencephalogram (EEG) features, treatment, and outcomes from January 2012 to December 2016 were collected. Statistical analysis was conducted to assess the factors associated with patient functional outcome. Forty-three patients were enrolled in the study, with a predominance of males (65.1%). The median age at onset was 57 years (interquartile range [IQR]: 44.0-65.0). The median time from onset to diagnosis was 60 days (IQR: 37.0-127.0). RESULTS: The main clinical manifestations included epilepsy (100%), faciobrachial dystonic seizures (FBDS; 44.2%), cognitive dysfunction (95.3%), neuropsychiatric disturbances (76.7%), sleep disorders (58.1%), and disturbance of consciousness (48.8%). Twenty-two patients (51.2%) had hyponatremia, 31 (72.1%) had abnormal EEG results, and 30 (69.8%) had abnormal brain MRI scans, mainly involving the hippocampus (76.7%) or temporal lobe (40%). Twenty of 34 patients (58.8%) in a follow-up MRI examination exhibited hippocampal atrophy. Twenty-five patients (58.2%) were administered corticosteroids and intravenous immunoglobulin, whereas 17 patients were treated only with corticosteroids. Forty-one patients (95.3%) had favorable outcomes after a median of 21.5 months (IQR: 7-43) of follow-up. Serum sodium level was a factor associated with a disabled status (odds ratio=0.81, 95% CI=0.66, 0.98, p=0.03). Anti-LGI1 encephalitis patients were characterized by seizures, FBDS, cognitive deficits, neuropsychiatric disturbances, and hyponatremia. CONCLUSIONS: Most patients with anti-LGI1 encephalitis are nonparaneoplastic, have low recurrence rates, and have favorable prognostic outcomes. Rapid evaluation, prompt immunotherapy, and long-term follow-up are essential in the care of anti-LGI1 encephalitis patients.
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Encefalite , Glioma , Hiponatremia , Encefalite Límbica , Corticosteroides/uso terapêutico , Autoanticorpos , Encefalite/terapia , Feminino , Humanos , Fatores Imunológicos/uso terapêutico , Imunoterapia , Peptídeos e Proteínas de Sinalização Intracelular/uso terapêutico , Leucina/uso terapêutico , Encefalite Límbica/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , ConvulsõesRESUMO
Albuminuria excretion rate, calculated as urinary albumin-to-creatinine ratio (UACR), is used clinically to evaluate albuminuria. There are different attitudes to whether high UACR predicts higher risk of stroke. The aim of this study was to evaluate the relationship between UACR and stroke. Two investigators independently searched MEDLINE, EMBASE, Cochrane Controlled Trials Register Database, Scopus and Google Scholar from January 1966 through June 2021 were screened. In addition, a manual search was conducted using the bibliographies of original papers and review articles on this topic. Two blinded reviewers abstracted the data independently to a predefined form. Among the 10,939 initially identified studies, 7 studies with 159,302 subjects were finally included. It is demonstrated that UACR predicted an increased risk of stroke using cutoff value of either 0.43 (HR, 2.39; 95% CI: 1.24 - 4.61; P <0.01), 10 mg/g (HR, 1.60; 95% CI: 1.30 - 1.97; P < 0.01) or 30 mg/g (HR, 1.84; 95% CI: 1.49 - 2.28; P < 0.01). The overall analysis confirmed that high UACR was associated with an increased rate of stroke (HR, 1.81; 95% CI: 1.52 - 2.17; P < 0.01). Furthermore, High UACR predicted higher risk of stroke in local inhabitants (HR, 1.67; 95% CI: 1.17 - 2.37; P = 0.04), adults (HR, 2.21; 95% CI: 2.07 - 2.36; P < 0.01) or elderly adults (HR, 1.96; 95% CI: 1.56 - 2.46; P < 0.01). Whereas, high UACR was unable to predict stroke in patients with either T2DM (HR, 2.25; 95% CI: 0.55 - 9.17; P = 0.26) or hypertension (HR, 0.95; 95% CI: 0.28 - 3.22; P = 0.93). Another subgroup analysis revealed that high UACR was associated with increased risk of ischemic stroke (HR, 1.60; 95% CI: 1.43 - 1.80; P < 0.01), as well as hemorrhagic stroke (HR, 1.76; 95% CI: 1.22 - 1.45; P < 0.01). In conclusion, UACR is associated with an increased risk of hemorrhagic and ischemic stroke. UACR may be used as an indicator to predict stroke in non-diabetic and non-hypertensive subjects.
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BACKGROUND AND OBJECTIVE: Essential thrombocythemia (ET) is a rare cause of cerebral venous sinus thrombosis (CVST). Analysis of the risk factors and treatment therapies of CVST in ET has yielded controversial findings. SUBJECTS AND METHODS: We retrospectively investigated the clinical characteristics of CVST events in ET and compared baseline characteristics, causative factors, hematological effects, and treatments between ET patients with and without CVST. RESULTS: Overall, 91 of 115 patients who met the ET diagnosis were included in this study. Among them, 23 (25.27%) patients met the diagnostic criteria of ET with CVST for inclusion, 14 (60.87%) of whom were females, with a median age of 34 (range 25-50). CVST diagnosis was made concomitantly to ET in 19 patients (82.61%). The most common symptom and sites of thrombosis of CVST was an acute or subacute headache and sigmoid sinuses, respectively. Compared with ET patients without CVST, ET patients with CVST were significantly younger (37.65±14.45 vs 60.93±13.46, P<0.001) and had lower prevalence of hypertension (4.34 vs 32.35%, P=0.003) and coronary artery disease (0 vs 14.71%, P = 0.045). Patients with CVST presented with signiï¬cant lower platelet count (510.39±176.71 vs 750.82±249.10, P< 0.001) and higher score of IPSET-thrombosis (P=0.017). Multivariate logistic regression analysis indicated that age (P=0.002, OR 1.096, 95% CI 1.035-1.161), at least one CVRF (P = 0.024, OR 0.037, 95% CI 0.002-0.649), platelet count (P=0.045, OR 0.994, 95% CI 0.989-1.001), and lower percentage of antiplatelet therapy (P=0.035, OR 0.307, 95% CI 0.001-1.280) significantly contributed to the risk of CVST in ET. CONCLUSION: Most patients (95.65%) had a favorable outcome without recurrence after standard anticoagulant and cytoreductive treatment at last follow-up. These findings indicate that CVST may be the initial presentation of ET, with its detection crucial for early diagnosis and appropriate management. Anticoagulant and cytoreductive therapies should be recommended for preventing ET-related CVST with JAK2 V617F mutation.
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Antiphospholipid syndrome (APS) with cerebral venous sinus thrombosis (CVST) is a relatively rare phenomenon, and this observational study aimed to investigate the clinical characteristics of APS patients complicated with CVST. We retrospectively investigated the clinical characteristics of CVST events in APS and compared differential characteristics and associated factors between APS patients with and without CVST. Twenty-one CVST patients with APS were enrolled including 14 females (9.4%) and 7 males (5.8%). The median age and disease duration at onset of CVST was 33 years (IQR 28-48) old and 1.3 months (IQR 0.7-4), respectively. Among APS patients with CVST, 12 (57.1%) cases presented with neurologic symptoms of CVST as the initial manifestation. Onset of CVST was mainly chronic (52.4%). Headache (90.5%) was the most common neurological symptom. The common locations of CVST were transverse sinus (76.2%) and superior sagittal sinus (57.1%), with more frequently (76.2%) dual or multiple sinuses involved. All patients with CVST were treated with anticoagulant, and 5 (23.8%) patients received endovascular therapy. Sixteen (84.2%) patients had good outcomes and 3 (15.8%) patients died at last follow-up. There were no significant differences (P > 0.05) between two groups in the analysis of related APS indicators. There were no significant differences (P > 0.05) between two groups in the analysis of related APS indicators. Although APS complicated with CVST is rare and predominately chronic developed. The evaluation of CVST should be performed for APS patients with intracranial hypertension syndrome. The routine screening of antiphospholipid antibodies (aPLs) is highly recommended in unexplained CVST patients. Most CVST patients with APS will have a good prognosis after treatment, and endovascular therapy is an alternative treatment.
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Anticoagulantes/uso terapêutico , Síndrome Antifosfolipídica/tratamento farmacológico , Trombose dos Seios Intracranianos/tratamento farmacológico , Adulto , Anticoagulantes/farmacologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
BACKGROUND: The treatment of post-stroke depression (PSD) with anti-depressant drugs is partly practical. Transcranial alternating current stimulation (tACS) offers the potential for a novel treatment modality for adult patients with PSD. In this study, we will assess the efficacy and safety of tACS for treating PSD and explore its effect on gamma and beta-oscillations involving in emotional regulation. METHODS: The prospective study is an 8-week, double-blind, randomized, placebo-controlled trial. Seventy eligible participants with mild to moderate PSD aged between 18 years and 70 years will be recruited and randomly assigned to either active tACS intervention group or sham group. Daily 40-minute, 77.5-Hz, 15-mA sessions of active or sham tACS targeting the forehead and both mastoid areas on weekdays for 4 consecutive weeks (week 4), and an additional 4-week observational period (week 8) will be followed up. The primary outcome is the proportion of participants having an improvement at week 8 according to the Hamilton Depression Rating Scale 17-Item (HAMD-17) score, including the proportion of participants having a decrease of ≥ 50% in HAMD-17 score or clinical recovery (HAMD-17 score ≤ 7). Secondary outcomes include neurological function, independence level, activities of daily living, disease severity, anxiety, and cognitive function. The exploratory outcomes are gamma and beta-oscillations assessed at baseline, week 4, and week 8. Data will be analyzed by logistical regression analyses and mixed-effects models. DISCUSSION: The study will be the first randomized controlled trial to evaluate the efficacy and safety of tACS at a 77.5-Hz frequency and 15-mA current in reducing depressive severity in patients with PSD. The results of the study will present a base for future studies on the tACS in PSD and its possible mechanism. TRIAL REGISTRATION NUMBER: NCT03903068, pre-results.
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Depressão/etiologia , Depressão/terapia , Ensaios Clínicos Controlados Aleatórios como Assunto , Acidente Vascular Cerebral/complicações , Estimulação Transcraniana por Corrente Contínua , Adolescente , Adulto , Idoso , Ondas Encefálicas , Depressão/fisiopatologia , Método Duplo-Cego , Humanos , Pessoa de Meia-Idade , Segurança do Paciente , Seleção de Pacientes , Escalas de Graduação Psiquiátrica , Índice de Gravidade de Doença , Acidente Vascular Cerebral/fisiopatologia , Acidente Vascular Cerebral/psicologia , Acidente Vascular Cerebral/terapia , Estimulação Transcraniana por Corrente Contínua/métodos , Adulto JovemRESUMO
BACKGROUND: Transcranial alternating current stimulation (tACS) offers a new approach for adult patients with major depressive disorder (MDD). The study is to evaluate the efficacy and safety of tACS treating MDD. METHODS: This is an 8-week, double-blind, randomized, placebo-controlled study. Ninety-two drug-naive patients with MDD aged 18 to 65 years will receive 20 daily 40-min, 77.5-Hz, 15-mA sessions of active or sham tACS targeting the forehead and both mastoid areas on weekdays for 4 consecutive weeks (week 4), following a 4-week observation period (week 8). The primary outcome is the remission rate defined as the 17-item Hamilton depression rating scale (HDRS-17) score ≤7 at week 8. Secondary outcomes are the rates of response at weeks 4 and 8 and rate of remission at week 4 based on HDRS-17, the proportion of participants having improvement in the clinical global impression-improvement, the change in HDRS-17 score (range, 0-52, with higher scores indicating more depression) over the study, and variations of brain imaging and neurocognition from baseline to week 4. Safety will be assessed by vital signs at weeks 4 and 8, and adverse events will be collected during the entire study. DISCUSSION: The tACS applied in this trial may have treatment effects on MDD with minimal side effects. TRIAL REGISTRATION: Chinese Clinical Trial Registry, ChiCTR1800016479; http://www.chictr.org.cn/showproj.aspx?proj=22048.
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Transtorno Depressivo Maior/terapia , Estimulação Transcraniana por Corrente Contínua/métodos , Adolescente , Adulto , Idoso , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Controle de Qualidade , Adulto JovemRESUMO
BACKGROUND: Not all adults with chronic insomnia respond to the recommended therapeutic options of cognitive behavioral therapy and approved hypnotic drugs. Transcranial alternating current stimulation (tACS) may offer a novel potential treatment modality for insomnia. OBJECTIVES: This study aimed to examine the efficacy and safety of tACS for treating adult patients with chronic insomnia. METHODS: Sixty-two participants with chronic primary insomnia received 20 daily 40-min, 77.5-Hz, 15-mA sessions of active or sham tACS targeting the forehead and both mastoid areas in the laboratory on weekdays for 4 consecutive weeks, followed by a 4-week follow-up period. The primary outcome was response rate measured by the Pittsburgh Sleep Quality Index (PSQI) at week 8. Secondary outcomes were remission rate, insomnia severity, sleep onset latency (SOL), total sleep time (TST), sleep efficiency, sleep quality, daily disturbances, and adverse events at the end of the 4-week intervention and at the 4-week follow-up. RESULTS: Of 62 randomized patients, 60 completed the trial. During the 4-week intervention, 1 subject per group withdrew due to loss of interest and time restriction, respectively. Based on PSQI, at 4-week follow-up, the active group had a higher response rate compared to the sham group (53.4% [16/30] vs. 16.7% [5/30], p = 0.009), but remission rates were not different between groups. At the end of the 4-week intervention, the active group had higher response and remission rates than the sham group (p < 0.001 and p = 0.026, respectively). During the trial, compared with the sham group, the active group showed a statistically significant decrease in PSQI total score, a shortened SOL, an increased TST, improved sleep efficiency, and improved sleep quality (p < 0.05 or p < 0.001). Post hoc analysis revealed that, in comparison with the sham group, the active group had improved symptoms, except for daily disturbances, at the end of the 4-week intervention, and significant improvements in all symptoms at the 4-week follow-up. No adverse events or serious adverse responses occurred during the study. CONCLUSION: The findings show that the tACS applied in the present study has potential as an effective and safe intervention for chronic insomnia within 8 weeks.
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Distúrbios do Início e da Manutenção do Sono/terapia , Sono , Estimulação Transcraniana por Corrente Contínua/métodos , Adulto , Doença Crônica , Método Duplo-Cego , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Segurança do Paciente , Polissonografia , Indução de Remissão , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
BACKGROUND: Two types of alleles exist within intron 3' and exon 8 in the presenilin 1 (PS1) gene at nucleotide 16: allele 1 (A at site 16) and allele 2 (C at site 16), and three genotypes (1/1, 1/2, and 2/2) are formed with a combination of these alleles. The present study aims to investigate the association between the intronic polymorphism of PS1 gene and the occurrence of sporadic Alzheimer's disease in a northern Chinese population. MATERIALS AND METHODS: The genotype and allele frequencies of PS1 gene were compared for 90 sporadic Alzheimer's disease patients and 90 healthy controls. The intronic polymorphism of the PS1 gene was determined by the PCR-restriction fragment length polymorphism method. RESULT: PS1 alleles (allele 1 [A at site 16] and allele 2 [C at site 16]) and genotypes (1/1, 1/2, and 2/2) were in Hardy-Weinberg equilibrium for both Alzheimer's disease and control subjects. The frequencies of PS1 intronic genotype 1/1 and allele 1 in the sporadic Alzheimer's disease group were significantly higher than those in the control group (P < 0.005). The genotype 2/2 was significantly lower among the patients with sporadic Alzheimer's disease compared with the controls. The onset of sporadic Alzheimer's disease was positively associated with PS1 intronic allele 1 (odds ratio = 2.14) and negatively associated with PS1 intronic allele 2 (odds ratio = 0.48). CONCLUSIONS: A polymorphism of the PS1 gene is associated with sporadic Alzheimer's disease risk in a northern Chinese population. PS1 intronic allele 1 is a risk factor, and PS1 intronic allele 2 is a protective factor for sporadic Alzheimer's disease.
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Doença de Alzheimer/genética , Predisposição Genética para Doença/genética , Presenilina-1/genética , Idoso , Idoso de 80 Anos ou mais , Povo Asiático/genética , Feminino , Genótipo , Humanos , Íntrons , Masculino , Pessoa de Meia-Idade , Polimorfismo GenéticoRESUMO
AIMS: This study aimed to identify the clinical profiles of cervical spondylosis-related internal jugular vein stenosis (IJVS) comprehensively. METHODS: A total of 46 patients, who were diagnosed as IJVS induced by cervical spondylotic compression were recruited. The clinical manifestations and imaging features of IJVS were presented particularly in this study. RESULTS: Vascular stenosis was present in 69 out of the 92 internal jugular veins, in which, 50.7% (35/69) of the stenotic vessels were compressed by the transverse process of C1, and 44.9% (31/69) by the transverse process of C1 combined with the styloid process. The transverse process of C1 compression was more common in unilateral IJVS (69.6% vs 41.3%, P = 0.027) while the transverse process of C1 combined with the styloid process compression had a higher propensity to occur in bilateral IJVS (52.2% vs 30.4%, P = 0.087). A representative case underwent the resection of the elongated left lateral mass of C1 and styloid process. His symptoms were ameliorated obviously at 6-month follow-up. CONCLUSIONS: This study proposes cervical spondylotic internal jugular venous compression syndrome as a brand-new cervical spondylotic subtype. A better understanding of this disease entity can be of great relevance to clinicians in making a proper diagnosis.
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Veias Jugulares , Espondilose/patologia , Adolescente , Adulto , Idoso , Angioplastia com Balão , Constrição Patológica , Feminino , Humanos , Veias Jugulares/cirurgia , Masculino , Pessoa de Meia-Idade , Neuroimagem , Procedimentos Neurocirúrgicos , Estudos Prospectivos , Espondilose/cirurgia , Síndrome , Resultado do Tratamento , Ultrassonografia , Procedimentos Cirúrgicos Vasculares , Adulto JovemRESUMO
OBJECTIVES: To investigate the risk factors and predictors of outcomes in a cohort of Chinese patients with cerebral venous sinus thrombosis (CVST), so as to provide a reference for customized clinical decision. PATIENTS AND METHODS: A total of 243 Chinese patients, diagnosed as a first CVST were enrolled in this retrospective study from March 2013 through April 2017. Risk factors and predictors of outcomes for CVST were summarized and analyzed by Chi-square test and logistic regression analysis. RESULTS: Of the 243 cases, obstetric cause (19.8%) was the leading risk factor for CVST, followed by infection (17.7%) and anemia (17.7%). Gender differences in the risk factors for CVST were analyzed, showing that obstetric cause was the top risk factor in female, while hyperhomocysteinemia (22.3%) was the top risk factor in male. In age subgroups, obstetric cause (26.3%) and anemia (17.6%) were more commonly observed in ageâ¯≤â¯44 years and ageâ¯>â¯44 years subgroup, respectively. The ratio of poor outcomes (mRSâ¯=â¯3-6) in this cohort was 23.0%, and central nervous system (CNS) infection was closely related to poor outcomes at discharge (pâ¯=â¯0.023). CONCLUSION: The predominant risk factor for CVST, in this Chinese cohort, may still be obstetric cause in female and hyperhomocysteinemia in male. In addition, CNS infection may predict poor outcomes in CVST patients.
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Cavidades Cranianas/cirurgia , Hiper-Homocisteinemia/cirurgia , Fatores Sexuais , Trombose dos Seios Intracranianos/cirurgia , Adulto , Povo Asiático , Estudos de Coortes , Cavidades Cranianas/diagnóstico por imagem , Feminino , Humanos , Hiper-Homocisteinemia/diagnóstico , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Trombose dos Seios Intracranianos/diagnósticoRESUMO
BACKGROUND: Internal jugular vein stenosis (IJVS), characterized by a series of clinical manifestations, such as head and neck symptoms, visual and ear symptoms, as well as sleep disorder, has been receiving attention in recent years. However, its' etiologies are not fully understood. CASE PRESENTATION: We report a cases series of IJVS induced by styloid oppression. We define it as the stylo-jugular type of Eagle syndrome (ES). CONCLUSIONS: Our study reveals that external oppression, especially by styloid process, is an important etiology of IJVS. The stylo-jugular ES diagnosis can be identified by Computed tomography venography. Whether stylo-jugular ES can be corrected by styloidectomy requires further investigation.
Assuntos
Veias Jugulares/patologia , Ossificação Heterotópica/complicações , Osso Temporal/anormalidades , Idoso , Angiografia por Tomografia Computadorizada , Constrição Patológica/diagnóstico por imagem , Constrição Patológica/etiologia , Feminino , Humanos , Veias Jugulares/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , FlebografiaRESUMO
Recently, internal jugular vein stenosis (IJVS) is gaining increasing attention from clinical researchers due to a series of confounding symptoms that impair the quality of life in affected individuals but cannot be explained by other well-established causes. In this study, we aimed to elucidate the clinical features, neuroimaging characteristics and pathogenesis of IJVS, and explore their possible correlations, in attempt to provide useful clues for clinical diagnosis and treatment. Forty-three eligible patients with unilateral or bilateral IJVS confirmed by contrast-enhanced magnetic resonance venography of the brain and neck were enrolled in this study. Magnetic resonance imaging along with magnetic resonance angiography or computed tomography angiography was applied to identify the radiological pattern of parenchymal or arterial lesions. Cerebral perfusion and metabolism were evaluated by single-photon emission computed tomography (SPECT). Of the 43 patients (46.0 ± 16.0 years old; 30 female), 14 (32.6%) had bilateral and 29 had unilateral IJVS. The common clinical symptoms at admission were tinnitus (60.5%), tinnitus cerebri (67.6%), headache (48.8%), dizziness (32.6%), visual disorders (39.5%), hearing impairment (39.5%), neck discomfort (39.5%), sleep disturbance (60.5%), anxiety or depression (37.5%) and subjective memory decline (30.2%). The presence of bilateral demyelination changes with cloudy-like appearance in the periventricular area and/or centrum semiovale was found in 95.3% (41/43) patients. SPECT findings showed that 92.3% (24/26) patients displayed cerebral perfusion and metabolism mismatch, depicted by bilaterally and symmetrically reduced cerebral perfusion and increased cerebral glucose consumption. IJVS may contribute to alterations in cerebral blood flow and metabolism, as well as white matter lesion formation, all of which may account for its clinical manifestations.