To better understand the electroclinical features and epileptic network of lateral and medial orbitofrontal epilepsy (OFE). We evaluated four patients who had undergone epilepsy surgery. Epileptic foci in two patients originated from the lateral orbitofrontal cortex, and those in the other two originated from the medial orbitofrontal cortex, which was confirmed by stereoelectroencephalography (SEEG). Time-frequency spectrograms were also provided for assistance, and the change in high-frequency energy was superimposed on the 3D reconstructed brain with a colour code in order to more intuitively show the transfer of high-frequency energy as the seizure evolves. All patients underwent SEEG-guided radiofrequency thermocoagulation (RF-TC) or focal resection and achieved satisfactory results. Lateral OFE and medial OFE were relatively independent with regards to clinical symptoms and epileptic network, however, lateral OFE was likely to propagate to the dorsolateral frontal lobe, whereas medial OFE (gyrus rectus) was more likely to propagate to the medial temporal lobe or insular lobe with long duration. There were significant differences in duration (21.17 ± 11.5 vs. 127.22 ± 235.05) and early propagation time (7.92 ± 4.44 vs. 29.0 ± 33.47) between the two origins. A better understanding of the electroclinical features of lateral and medial OFE is helpful to understand their epileptic networks and perform accurate resections in order to protect the cognitive and behavioural functions of patients.

Early infantile epileptic encephalopathy type 28 is a refractory epilepsy with early onset, poor prognosis, and hereditary causes. WW domain-containing oxidoreductase (WWOX) gene mutation can result in epileptic encephalopathy, but the mechanism remains unclear. We present the case of a patient with epilepsy and WWOX compound heterozygous mutations. The seizures manifested as tonic-clonic, convulsive and were refractory to drugs. Magnetic resonance imaging showed a widened subarachnoid space and thin corpus callosum. The patient died from asphyxia at the age of one year and 23 days. Peripheral blood was taken from the patient and his parents, and whole-exome sequencing was investigated to determine possible gene mutation. Two compound heterozygous mutations were identified: c.172+1G>C (with no amino acid change) and c.984C>G (amino acid change: p.Tyr328Ter). The pathophysiology of epileptic encephalopathy related to the WWOX gene remains to be determined, and further studies are required to elucidate possible mechanisms.

目的 探讨头皮脑电图(EEG)对结节性硬化患者癫痫手术治疗评估的意义,以及头皮EEG是否为局灶性起始对手术预后的影响.方法 对16例结节性硬化癫痫患者进行头皮长程视频EEG监测,确定其放电部位及发作起始区域.11例患者实施病灶直接切除术,5例患者SEEG植入电极后再行热凝毁损或切除术.结果 16例患者中,有12例患者术后无发作,其中3例患者术前头皮EEG为局灶性起源,9例患者为全面性或半球性起源;4例患者术后仍有发作,其中2例患者头皮EEG为非局灶性起始,2例患者为局灶性起始.头皮EEG为局灶性起始与非局灶性起始患者的术后无发作率比较,差异无统计学意义(P=0.547).结论 头皮EEG表现对结节性硬化患者的癫痫手术评估有指导意义;而头皮EEG是否为局灶性起始对手术预后无明显影响.

Objective: Tuberous sclerosis complex (TSC) is a multisystem disease. Variants in the TSC1 and TSC2 genes have been reported to be associated with TSC and are considered pathogenic. The purpose of this study was to determine the genetic mutations and expression patterns of TSC1 and TSC2 in 21 Chinese patients suffering from TSC who were clinically characterized by epilepsy. Methods: Peripheral blood samples were taken from 21 patients, their parents, and other family members. Their TSC1 and TSC2 genes were sequenced through next-generation sequencing to identify all variants. Results: We identified variants in 17/21 patients in either their TSC1 or TSC2 genes: 6 patients had TSC1 mutations and 11 had TSC2 mutations. There were 13 spontaneous mutations, and 3 that had been inherited from a parent. The mutations were classified by types: there were three missense mutations, five frameshift mutations, two splice site mutations, four nonsense mutations, two single codon deletions resulting the loss of an amino acid, and one large fragment deletion. Six of the mutations have not been previously reported. Conclusion: The genotypic analysis of Chinese TSC patients who are clinically characterized by epilepsy can potentially be useful for genetic counseling and prenatal diagnoses for patients and their families.

Objective To investigate the clinical value of MRI morphological analysis in identification of focal cortical dysplasia (FCD) in presurgical evaluation of epileptogenic zone (EZ).Methods We retrospectively analyzed the clinical data of 53 patients who were admitted to Epilepsy Center,Tsinghua University Yuquan Hospital and underwent surgical removal of epileptic foci and were pathologically confirmed as FCD Ⅰ or FCD Ⅱ.Morphometric analysis programme was used to post-process presurgical high-resolution MRI to obtain the gray-white matter junction imaging (MAP+ region) and statistical analysis was used to determine the consistency of the MAP + region and surgical site and postoperative epilepsy control.Results In this series,the probability of postoperative seizure-free (67.9％,36/53) was higher in patients whose MAP* regions were resected than that (7.5％,4/53) in patients whose MAP+ regions were not resected (P=0.002).In the MRl-negative group,the probability of postoperative seizure-free (62.5％,20/32) was higher in patients whose MAP+ regions were resected than that (9.4％,3/32) in patients whose MAP+ regions were not resected (P =0.006).In the MRI positive group,MAP+ regional resection was not associated with the clinical outcome (P =0.352).Conclusions The gray-white matter junction imaging could improve the detection rate of FCD lesions,which might have clinical value in localization of EZ and resection of EZ and making electrode plan of stereotactic electroencephalogram (SEEG).

Objective This study aimed to employ time-resolved spectroscopy (TRS) to explore age-related differences in prefrontal cortex (PFC) activity while subjects performed a working memory task. Methods We employed TRS to measure PFC activity in ten healthy younger and ten healthy older subjects while they performed a working memory (WM) task. All subjects performed the Sternberg test (ST) in which the memory-set size varied between one and six digits. Using TRS, we recorded changes in cerebral blood oxygenation as a measure of changes in PFC activity during the task. In order to identify left/right asymmetry of PFC activity during the working memory task, we calculated the laterality score, i.e., Δoxy-Hb (right Δoxy-Hb—left Δoxy-Hb); positive values indicate greater activity in the right PFC, while negative values indicate greater activity in the left PFC. Results During the ST, statistical analyses showed no significant differences between the younger and older groups in accuracy for low memory-load and high memory-load. In high memory-load tasks, however, older subjects were slower than younger subjects (P < 0.05). We found that the younger group showed right lateral responses with a stronger right than left activation in the frontal pole, whereas the older group showed bilateral responses (P < 0.05). Conclusions The present results are consistent with the hemispheric asymmetry reduction in older adults (HAROLD) model; working memory tasks cause asymmetrical PFC activation in younger adults, while older adults tend to show reduced hemispheric lateralization.

The cerebrospinal fluid (CSF) shows inflammatory changes in patients with idiopathic hypertrophic pachymeningitis (IHP), which is a rare disorder. However, systemic CSF research including immunoglobulins in patients with IHP are substantially lacking. In the study, clinical, laboratory, neuroradiologic and therapeutic data from 9 patients with IHP were retrospectively studied, and CSF changes were analyzed. Intracranial pressure was elevated in 4 patients. Protein levels in CSF were elevated in 5 patients (< 1g/L). IgA was elevated in 7 patients (> 0.5mg/dL), IgG was elevated in 8 patients (> 3.4 mg/dL) and IgM was elevated in 6 patients (>0.13 mg/dL) with IHP. CSF immunoglobulins, including IgA, IgG and IgM, were significantly elevated compared with levels in the control (P = 0.021, 0.018, 0.019). There were no linear correlations between IgG, IgM and protein in CSF, but there was a linear correlation between IgA and protein. In conclusion, CSF in IHP shows inflammatory changes, and protein levels are low to moderately elevated. CSF immunoglobulins, including IgA, IgG and IgM, also increased. The arachnoid is involved in IHP, a proportion of immunoglobulins may originate from the blood because of damage to the blood-CSF barrier at the arachnoid. Other intrathecal synthesis of immunoglobulins may be a secondary change due to alteration in the CSF's content to stabilize the internal environment or may be secreted by activated immune memory cells in the brain, which need further research.

Only nine patients with olanzapine-induced restless legs syndrome (RLS) have been reported in the literature to our knowledge. We describe two patients with olanzapine-induced RLS treated at our hospital and review the nine reported patients. There were five women and six men aged between 28 and 62 years in the overall group. RLS symptoms emerged at olanzapine doses between 2.5 and 20mg. The symptoms improved in all patients when the dose was reduced and immediately disappeared when the medication was stopped. International Restless Legs Scale (IRLS) scores ranged from 10 to 35. Three patients had a family history of idiopathic RLS. Supplemental drugs were administered to control RLS symptoms in five patients. Ropinirole was effective in one patient, while two patients did not respond to the drug. Propoxyphene effectively relieved symptoms in one patient who did not respond to ropinirole or clonazepam. RLS symptoms did not recur following substitution of other antipsychotic drugs for olanzapine. In conclusion, olanzapine can induce RLS, particularly in patients with a family history of idiopathic RLS. More than half of the patients experienced severe to very severe symptoms. A dose-dependent relationship was observed between olanzapine and RLS symptoms. A gradual increase in dose may prevent olanzapine-induced RLS. The optimal treatment for olanzapine-induced RLS is discontinuation of olanzapine.

Stem cell therapy is an emerging therapeutic modality in the treatment of stroke. We assessed the safety and feasibility of the cotransplantation of neural stem/progenitor cells (NSPCs) and mesenchymal stromal cells (MSCs) in patients with ischemic stroke. Eight patients were enrolled in this study. All patients had a hemisphere with infarct lesions located on one side of the territories of the cerebral middle or anterior arteries as revealed with cranial magnetic resonance imaging (MRI). The patients received one of the following two types of treatment: the first treatment involved four intravenous injections of MSCs at 0.5 × 10 6 /kg body weight; the second treatment involved one intravenous injection of MSCs at 0.5 × 10 6 /kg weight followed by three injections of MSCs at 5 × 10 6 /patient and NSPCs at 6 × 10 6 /patient through the cerebellomedullary cistern. The patients' clinical statuses were evaluated with the National Institutes of Health Stroke Scale (NIHSS), the modified Rankin Scale (mRS), and the Barthel index (BI). Six patients were given four cell transplantations. The most common side effect of stem cell transplantation in these six cases was low fever that usually lasted 2–4 days after each therapy. One patient exhibited minor dizziness. All side effects appeared within the first 2–24 h of cell transplantation, and they resolved without special treatment. There was no evidence of neurological deterioration or neurological infection. Most importantly, no tumorigenesis was found at a 2-year follow-up. The neurological functions, disability levels, and daily living abilities of the patients in this study were improved. While these observations support the use of the combination transplantation of NSPCs and MSCs as a safe and feasible method of improving neurological function, further studies that include larger samples, longer follow-ups, and control groups are still needed. This manuscript is published as part of the International Association of Neurorestoratology (IANR) special issue of Cell Transplantation .

Hypertrophic pachymeningitis is a rare chronic inflammatory disorder characterized by marked fibrous thickening of the cerebral and/or spinal dura mater. Clinical, laboratory, neuroradiologic and therapeutic data from 12 patients with idiopathic hypertrophic pachymeningitis (IHP) from our department were retrospectively studied. There were four men and eight women with a mean age of 49±15.3years, and more than half of the patients (58%) were aged 40–60years. Headache was the most common symptom, occurring in 92% of patients. Headache improved markedly and rapidly after glucocorticoid treatment. Optic nerve involvement was noted in seven patients (58%). C-reactive protein levels increased in 80% and the erythrocyte sedimentation rate increased in 71% of patients. Three patients were positive for autoantibodies, including antinuclear antibodies (ANA), perinuclear anti-neutrophil cytoplasmic antibodies (p-ANCA), anti-cardiolipin antibodies (ACA) and rheumatoid factor (RF). Cerebrospinal fluid showed inflammatory changes, and protein levels were low to moderately elevated. MRI revealed a thickened dura in all patients, and five patients (42%) were diagnosed with sinus stenosis/occlusion. IHP is a chronic inflammatory disorder of the dura with three groups of symptoms, namely headache, cranial nerve palsy and symptoms due to sinus stenosis/occlusion. However, IHP has different features in China in that it predominantly affects women and the age of onset is younger. Sinus stenosis/occlusion is relatively common in IHP patients in China.

Objective To evaluate the motor-related activation of cortical regions in patients who suffered hemiparesis after subcortical infarction in acute phase and relationship between functional near infrared spectroscopy (fNIRS) signal and Fugl-Meyer score.Methods We employed fNIRS to evaluate cortical activation with affected hand movement in 8 patients after subcortical infarction causing mild to moderate left hemiparesis in early phase(≤ 14 days).Eight right-handed normal subjects without stroke history served as controls.Block design of hand grasp task was used.The activated channels were compared between patients and controls.Correlative analysis was performed between fNIRS signal and Fugl-Meyer score in patients.Results The activated cortices in patients were larger than that of controls.Controls activated the right primary sensorimotor cortex (CH14、8、15、20 和 21,P ＜ 0.01) during left hand grasp task.However,patients showed extended activation not only in the right motor cortex(CH15、8、2、22、3、20、16、14、27、35、41、1、10 和 36,P ＜ 0.01) but also in the left motor cortex including prefrontal cortex (CH5 和 CH37,P ＜ 0.01)during the same task.No statistical correlation was found between fNIRS signal and Fugl-Meyer score.Conclusions Cortical reorganization can be detected early after subcortical infarction by using fNIRS.The result of this study demonstrated that fNIRS was suitable for studying poststroke alterations in cortical response to motor stimulation.

便秘在临床上一般分两类:出口梗阻型和慢转运型.出口梗阻型便秘患者的症状以排便困难、排便不全、直肠阻塞、会阴坠胀为主,症状持续多年,治疗困难.近年来,随着对此病的病理、生理的深入研究,提出了盆底松弛综合征这一诊断[1].