简介：AbstractBackground:Patients with temporal lobe epilepsy (TLE) originating from different seizure onset zones had distinct electrophysiological characteristics and surgical outcomes. In this study, we aimed to investigate the relationship between the origin and prognosis of TLE, and the stereoelectroencephalography (SEEG) features.Methods:Thirty patients with TLE, who underwent surgical treatment in our functional neurosurgery department from January 2016 to December 2017, were enrolled in this study. All patients underwent anterior temporal lobectomy after an invasive preoperative evaluation with SEEG. Depending on the epileptic focus location, patients were divided into those with medial temporal lobe seizures (MTLS) and those with lateral temporal lobe seizures (LTLS). The Engel classification was used to evaluate operation effectiveness, and the Kaplan-Meier analysis was used to detect seizure-free duration.Results:The mean follow-up time was 25.7 ± 4.8 months. Effectiveness was 63.3% for Engel I (n = 19), 13.3% for Engel II, 3.3% for Engel III, and 20.0% for Engel IV. According to the SEEG, 60.0% (n = 18) had MTLS, and 40.0% (n = 12) had LTLS. Compared with the MTLS group, the operation age of those with LTLS was significantly greater (26.9 ± 6.9 vs. 29.9 ± 12.5 years, t = -0.840, P = 0.009) with longer epilepsy duration (11.9 ± 6.0 vs. 17.9 ± 12.1 years, t = -1.801, P = 0.038). Patients with MTLS had a longer time interval between ictal onset to seizure (67.3 ± 59.1 s vs. 29.3 ± 24.4 s, t = 2.017, P = 0.008). The most common SEEG ictal pattern was a sharp/spike-wave rhythm in the MTLS group (55.6%) and low-voltage fast activity in the LTLS group (58.3%). Compared with the LTLS group, patients with MTLS had a more favorable prognosis (41.7% vs. 77.8%, P = 0.049). Post-operative recurrence was more likely to occur within three months after the operation for both groups, and there appeared to be a stable longterm outcome.Conclusion:Patients with MTLS, who accounted for three-fifths of patients with TLE, showed a more favorable surgical outcome.

简介：AbstractBackground:Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder associated with loss of motor neurons. Our objective was to explore the epidemiology, clinical features, and survival factors of 1809 patients with ALS.Methods:We analyzed 1809 ALS patients, who were recruited from the Peking University Third Hospital from January 2005 to December 2015. Demographic data and disease-related parameters were collected. Kaplan-Meier curves were used to compare survival time. Cox proportional hazards function and the hazard ratio were used to identify adjusted prognostic predictors.Results:The results showed that the average annual incidence in Beijing alone was 0.38 cases/100,000 person-years and the mean age of onset was 48.88 ± 11.35 (95% confidence interval [CI]: 48.17-49.85) years. The median survival time from onset to death/tracheostomy was 58.89 ± 33.03 (95% CI: 51.46-63.84) months. In the adjusted Cox proportional hazard model, age of onset, diagnosis delay, rate of disease progression (Amyotrophic Lateral Sclerosis Functional Rating Scale Revised decline [points/month]), and body mass index all had an independent effect on survival in ALS.Conclusions:Our study provides information on epidemiology, clinical features, and survival factors of patients with ALS in China. These results can be helpful in clinical practice, clinical trial design, and validation of new tools to predict disease progression.

简介：摘要目的总结lateral meningocele综合征（lateral meningocele syndrome，LMS）的临床特点及其致病基因。方法回顾性收集2020年5月在温州医科大学附属第二医院新生儿科确诊的1例LMS患儿的临床表现、实验室检查、影像学检查及基因检测结果等病例资料。以“lateral meningocele综合征”“侧脊膜膨出综合征”“NOTCH3变异”和“lateral meningocele syndrome”“NOTCH3”为检索词分别在中国知网数据库、万方数据库、维普数据库和在线人类孟德尔遗传数据库及PubMed进行文献检索（自建库至2021年2月）。结合本例患儿总结LMS的临床表现、致病机制和遗传学病因。结果本例患儿，男，7日龄，因“生后吃奶差1周”收入院。患儿表现为四肢肌张力低下、吞咽困难、高血压、侧脊膜膨出，伴有特殊面容和隐睾。脊柱MRI及脑干诱发电位均异常。全外显子组测序发现位于染色体19p13.12的NOTCH3基因杂合移码变异c.6667_6686del(p.Ala2223Profs*12)，未检测到父母携带该致病变异。文献检索到相关病例报道12篇（均为英文），包括15个家系共17例患者（其中基因确诊9例），连同本例患儿共18例（基因确诊共10例）。诊断年龄为15 d～55岁，均存在胸腰椎内多个侧脊膜膨出，常见表现为小下颌畸形和低位耳（16/18）、上睑下垂及眼睑下裂（15/18）、肌张力低下（13/18）、高血压（11/18）、发育迟缓（9/18）、混合性或传导性听力损失（9/18）、心血管发育异常（7/18）及男性隐睾（7/10）。共检出9种NOTCH3基因变异，均为杂合变异，其中移码变异6种、无义变异3种。结论LMS的致病原因是NOTCH3基因变异，主要表现为胸腰椎内多个侧脊膜膨出、颅面畸形、高血压、肌张力低下、发育迟缓、喂养困难和隐睾等。

简介：AbstractWe reported a case of a 32 years old male presenting with a perforating gunshot injury in craniocerebral region 3 h after the assault. The bullet entered above the right zygomatic arch, travelling through the coronal plane, and exited from the left zygomatic arch. The patient was fully conscious at presentation and developed facial nerve palsy during his hospital stay. Non-contrast CT scan of the head revealed fractures of the right orbit, bilateral maxilla, bilateral pterygoid plates, ethmoid air cells, vomer and left zygoma, and without any cerebral damage. He was treated conservatively and the facial palsy was resolved. The patient survived without any complications. Such case has not been described in the available literature till date.

简介：AbstractBackground:Colonoscopy requires the intubation of the cecum for screening of colorectal diseases. The conventional position used for colonoscopy is the left lateral position (LLP). However, alternative positions have also been utilized to enhance the success of intubation. Thus, the aim of this study was to perform a meta-analysis of the different positions to determine the effectiveness of the individual positions for successful colonoscopy.Methods:Medline, Embase and Cochrane trials electronic databases were searched for studies on colonoscopy positions. The primary outcome was defined as the cecal intubation rate. Pooled risk ratios (RR) and 95% confidence intervals (CI) for the rates of cecal intubation were estimated. Secondary outcomes such as the cecal intubation time and adenoma detection rate were further analyzed qualitatively.Results:After reviewing 644 identified records, 7 randomized control trials (RCT) studies were included. No significant difference was observed in either comparisons, between the LLP vs. supine position (SP) (RR = 1.01, 95% CI, 0.98 to 1.04, P = 0.55) or the LLP vs. prone position (PP) (RR = 1.02, 95% CI, 0.98 to 1.06, P = 0.27).Conclusions:Amidst available literature, the use of other positions can be considered when performing colonoscopy. These further highlights that the existential practice is based predominantly on familiarity instead of evidence-based-research.

简介：AbstractBackground:Investigations of the pathogenic mechanisms in motor neurons (MNs) derived from amyotrophic lateral sclerosis (ALS) disease-specific induced pluripotent stem (iPS) cell lines could improve understanding of the issues affecting MNs. Therefore, in this study we explored mutant superoxide dismutase 1 (SOD1) protein expression in MNs derived from the iPS cell lines of ALS patients carrying different SOD1 mutations.Methods:We generated induced pluripotent stem cell (iPSC) lines from two familial ALS (FALS) patients with SOD1-V14M and SOD1-C111Y mutations, and then differentiated them into MNs. We investigated levels of the SOD1 protein in iPSCs and MNs, the intracellular Ca2+ levels in MNs, and the lactate dehydrogenase (LDH) activity in the process of differentiation into the MNs derived from the controls and ALS patients’ iPSCs.Results:The iPSCs from the two FALS patients were capable of differentiation into MNs carrying different SOD1 mutations and differentially expressed MN markers. We detected high SOD1 protein expression and high intracellular calcium levels in both the MN and iPSCs that were derived from the two SOD1 mutant patients. However, at no time did we observe stronger LDH activity in the patient lines compared with the control lines.Conclusions:MNs derived from patient-specific iPSC lines can recapitulate key aspects of ALS pathogenesis, providing a cell-based disease model to further elucidate disease pathogenesis and explore gene repair coupled with cell-replacement therapy. Incremental mutant expressions of SOD1 in MNs may have disrupted MN function, either causing or contributing to the intracellular calcium disturbances, which could lead to the occurrence and development of the disease.