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MPDZ variants associated with epilepsies and/or febrile seizures and the individualized genotype-phenotype correlation

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Genes & Diseases 2024年第3期11卷 124-127页

作者： Junxia Luo Yun Li Yong Lv Xin Li Bing Qin Chuanfang Cheng Xiaorong Liu Weiping Liao Jie Wang Zaifen Gao department of Epilepsy Center Children's Hospital Affiliated to Shandong UniversityJinanShandong 250022China department of Epilepsy Center Jinan Children's HospitalJinanShandong 250022China department of Brain Function and neuroelectrophysiology The Affiliated Nanhua HospitalHengyang Medical SchoolUniversity of South ChinaHengyangHunan 421001China department of Pediatrics The First Affiliated Hospital of University of Science and Technology of China(Anhui Provincial Hospital)HefeiAnhui 230001China department of Pediatrics The Second HospitalCheeloo College of MedicineShandong UniversityJinanShandong 250033China Epilepsy Center and department of Neurosurgery The First Affliated Hospital of Jinan UniversityGuangzhouGuangdong 510630China department of Cardiology The Second Afiliated Hospital of Guangzhou Medical UniversityGuangzhouGuangdong 510260China Institute of Neuroscience and department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University GuangzhouGuangdong 510260China Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China GuangzhouGuangdong 510260China

The multiple PDZ domain crumbs cell polarity complex component gene(MPDZ;MIM:603785),is highly expressed in the brain across the whole lifespan.It encodes the multiple PDZ domain protein,which is a member of the NMDAR signaling complex that may play a role in the control of AMPAR potentiation and synaptic plasticity in excitatory synapses."Previously,MPDZ variants have been demonstrated to be associated with autosomal recessive congenital hydrocephalus-2(HYC2;MIM:615219)which is commonly complicated by brain abnormalities and developmental delay.Seizures were reported in only one case.The association between MPDz and epilepsy requires clarification.

关键词： epilepsy febrile congenital

Effect of anesthesia induction with butorphanol on postoperative nausea and vomiting:A randomized controlled trial

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World Journal of Clinical Cases 2023年第32期11卷 7806-7813页

作者： Fang Xie De-Feng Sun Lin Yang Zhong-Liang Sun department of Anesthesiology The First Affiliated Hospital of Dalian Medical UniversityDalian 116011Liaoning ProvinceChina department of neuroelectrophysiology The First Affiliated Hospital of Dalian Medical UniversityDalian 116011Liaoning ProvinceChina

BACKGROUND Postoperative nausea and vomiting(PONV)are common complications that affect the recovery and well-being of elderly patients undergoing gastrointestinal laparoscopic surgery.AIM To investigate the effect of butorphanol on PONV in this patient population.METHODS A total of 110 elderly patients(≥65 years old)who underwent gastrointestinal laparoscopic surgery were randomly assigned to receive butorphanol(40μg/kg)or sufentanil(0.3μg/kg)during anesthesia induction in a 1:1 ratio.The measured outcomes included the incidence of PONV at 48 h after surgery,intraoperative dose of propofol and remifentanil,Bruggrmann Comfort Scale score in the postanesthesia care unit(PACU),number of compressions for postoperative patientcontrolled intravenous analgesia(PCIA),and time to first flatulence after surgery.RESULTS The results revealed a noteworthy reduction in the occurrence of PONV at 24 h after surgery in the butorphanol group,when compared to the sufentanil group(T1:23.64%vs 5.45%,T2:43.64%vs 20.00%,P0.05).Furthermore,patients in the butorphanol group were more comfortable,when compared to patients in the sufentanil group in the PACU.CONCLUSION The present study revealed that butorphanol can be an efficacious substitute for sufentanil during anesthesia induction to diminish PONV within 24 h following gastrointestinal laparoscopic surgery in the elderly,simultaneously improving patient comfort in the PACU.

关键词： Butorphanol Sufentanil Enhanced recovery after surgery Anesthesiology Gastrointestinal surgery Postoperative nausea and vomiting

The sensitivity difference between the glans penis and penile shaft in primary premature ejaculation

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Asian Journal of Andrology 2023年第4期25卷 487-491页

作者： Lei Zheng Le-Tian Wei Qi-Zhen Tang Chun-Li Song Wen-Rong Liu Ke-Nan Wang Hui Jiang Tao Jiang department of Andrology Second Hospital of Dalian Medical UniversityDalian 116000China department of Urology First Hospital of Dalian Medical UniversityDalian 116000China department of neuroelectrophysiology First Hospital of Dalian Medical UniversityDalian 116000China department of Andrology Peking University First HospitalBeijing 100191China.

The penis is a vital organ of perception that transmits perceived signals to ejaculation-related centers.The penis consists of the glans penis and penile shaft,which differ considerably in both histology and innervation.This paper aims to investigate whether the glans penis or the penile shaft is the main source of sensory signals from the penis and whether penile hypersensitivity affects the whole organ or only part of it.The thresholds,latencies,and amplitudes of somatosensory evoked potentials(SSEPs)were recorded in 290 individuals with primary premature ejaculation using the glans penis and penile shaft as the sensory areas.The thresholds,latencies,and amplitudes of SSEPs from the glans penis and penile shaft in patients were significantly different(all P<0.0001).The latency of the glans penis or penile shaft was shorter than average(indicating hypersensitivity)in 141(48.6%)cases,of which 50(35.5%)cases were sensitive in both the glans penis and penile shaft,14(9.9%)cases were sensitive in the glans penis only,and 77(54.6%)cases were sensitive in the penile shaft only(P<0.0001).There are statistical differences in the signals perceived through the glans penis and the penile shaft.Penile hypersensitivity does not necessarily mean that the whole penis is hypersensitive.We classify penile hypersensitivity into three categories,namely,glans penis,penile shaft,and whole-penis hypersensitivity,and we propose the new concept of penile hypersensitive zone.

关键词： neuroelectrophysiology perceptive zone premature ejaculation sensitivity sensory perception

Efficacy and safety of propofol target-controlled infusion combined with butorphanol for sedated colonoscopy

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World Journal of Clinical Cases 2023年第3期11卷 610-620页

作者： Feng Guo De-Feng Sun Yan Feng Lin Yang Jing-Lin Li Zhong-Liang Sun department of Anesthesiology No.967 HospitalJoint Logistics Support Force of Chinese People’s Liberation ArmyDalian 116011Liaoning ProvinceChina department of Anesthesiology The First Affiliated Hospital of Dalian Medical UniversityDalian 116011Liaoning ProvinceChina department of neuroelectrophysiology The First Affiliated Hospital of Dalian Medical UniversityDalian 11601Liaoning ProvinceChina

BACKGROUND Propofol is a short-acting,rapid-recovering anesthetic widely used in sedated colonoscopy for the early detection,diagnosis and treatment of colon diseases.However,the use of propofol alone may require high doses to achieve the induction of anesthesia in sedated colonoscopy,which has been associated with anesthesia-related adverse events(AEs),including hypoxemia,sinus bradycardia,and hypotension.Therefore,propofol co-administrated with other anesthetics has been proposed to reduce the required dose of propofol,enhance the efficacy,and improve the satisfaction of patients receiving colonoscopy under sedation.AIM To evaluate the efficacy and safety of propofol target-controlled infusion(TCI)in combination with butorphanol for sedation during colonoscopy.METHODS In this controlled clinical trial,a total of 106 patients,who were scheduled for sedated colonoscopy,were prospectively recruited and assigned into three groups to receive different doses of butorphanol before propofol TCI:Low-dose butorphanol group(5μg/kg,group B1),high-dose butorphanol group(10μg/kg,group B2),and control group(normal saline,group C).Anesthesia was achieved by propofol TCI.The primary outcome was the median effective concentration(EC50)of propofol TCI,which was measured using the up-and-down sequential method.The secondary outcomes included AEs in perianesthesia and recovery characteristics.RESULTS The EC50 of propofol for TCI was 3.03μg/mL[95%confidence interval(CI):2.83-3.23μg/mL]in group B2,3.41μg/mL(95%CI:3.20-3.62μg/mL)in group B1,and 4.05μg/mL(95%CI:3.78-4.34μg/mL)in group C.The amount of propofol necessary for anesthesia was 132 mg[interquartile range(IQR),125-144.75 mg]in group B2 and 142 mg(IQR,135-154 mg)in group B1.Furthermore,the awakening concentration was 1.1μg/mL(IQR,0.9-1.2μg/mL)in group B2 and 1.2μg/mL(IQR,1.025-1.5μg/mL)in group B1.Notably,the propofol TCI plus butorphanol groups(groups B1 and B2)had a lower incidence of anesthesia AEs,when compared to group C.Furthermore,no significant differences were observed

关键词： Colonoscopy Sedated colonoscopy Propofol Butorphanol Target-controlled infusion Effective concentration Adverse event

Electrophysiological evaluation in 4 patients with diabetic pseudotabes

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Neural Regeneration Research 2007年第5期2卷 301-304页

作者： Xiaofang Cai Qionghua Huang department of neuroelectrophysiology Zhongshan Hospital Xiamen University Xiamen 361004 Fujian Province China

BACKGROUND： Researches on diabetic nervous system lesion are mainly focus on peripheral nerve and vegetative nerve, so there are few investigations on diabetic pseudotabes. OBJECTIVE： To investigate the electrophysiological examinations on the diagnosis of diabetic pseudotabes. DESIGN： Case study. SETTING： department of Electrophysiology and department of Neurology, Zhongshan Hospital Affiliated to Xiamen University. PARTICIPANTS： A total of 4 patients with type 2 diabetes mellitus, including 3 males and 1 female aged from 50 to 72 years, were selected from department of Neurology, Zhongshan Hospital Affiliated to Xiamen University from March 2002 to February 2005. All accepted subjects met the modified diagnostic criteria of diabetes mellitus, which was set by American Diabetes Mellitus Association （ADA） in 1997. Otherwise, the subjects had typical symptoms and physical signs of spinal posterior funiculus damage. However, patients with spinal cord lesion which was caused by other factors were excluded. All accepted subjects provided the confirmed consent. METHODS： Nicolet NT electromyography （EMG）/evoked potential meter （made in the USA） was used to detect spinal cord conduction velocity （SCCV）, somatosensory evoked potential （SEP） of lower limbs, motor nerve conduction velocity （MNCV） and sensory nerve conduction velocity （SNCV） of extremities. Determining criteria： Measurements were performed based on the laboratory standards. SCCV, which was less than lower limit of normal value （T2–12： 40–55 m/s, T12–L4： 20–41 m/s, T2–L4： 36–45 m/s）, was regarded as abnormal. SEP value of lower limbs： P40, P60 and PF, which were more than standard deviation of normal value （x — ＋2.5）, were regarded as the abnormality. Normal value of P40, P60 and PF latencies （x —±s） in this study： P40, P60 and PF in males were （37.6±1.9） ms, （59.8±3.9） ms and （7.6±0.9） ms, respectively; meanwhile, those in females were （35.5±1.7） ms, （55.2±2.7） ms and （6.3±0.7） ms, respectively. MNCV and SNCV, which were less than 50 m/s in upper limbs and

关键词： diabetes mellitus tabes dorsalis evoked potentials, somatosensory neural conduction electrophysiology

Carotid Doppler and transcranial Doppler in diagnosing transient ischemic attack: A healthy control

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Neural Regeneration Research 2006年第3期1卷 283-285页

作者： Huiling Chen Jinhua Qiu Hongying Liu department of neuroelectrophysiology Central People＇s Hospital of Huizhou Huizhou 516001 Guangdong Province China

BACKGROUND： If changes of hemodynamics in internal or external cranial artery and stenosis of atherosclerosis are found eady, patients with transient ischemic attack （TIA） may be treated at an eady phase so as to prevent and decrease the onset of cerebral infarction. Carotid Doppler can analyze carotid canal wall, hemodynamic properties and stenosis, and changes of plaque morphology; however, transcranial Doppler （TCD） can evaluate vascular stenosis and occlusion and judge collateral circulation in cranium through detecting velocity and direction of blood flow. Can the association of them increase the diagnostic rate of TIA？ OB3ECTIVE： To evaluate the effect of the association of carotid Doppler and TCD on TIA in internal carotid artery. DESIGN： Contrast observational study SETTING： department of neuroelectrophysiology, Central People＇s Hospital of Huizhou PARTICIPANTS： A total of 54 patients with TIA in internal carotid artery were selected from the department of Neurology of Huizhou Central People＇s Hospital from May 2004 to June 2005. There were 35 males and 24 females aged 46-81 years. The clinical situation was asthenia of single limb, hemiplegia, anaesthesia of single upper or lower limb, hemianesthesia, sensory disorder and aphasia. The symptoms lasted for less than 2 hours. All cases were diagnosed with CT, and those who had pathological changes of acute cerebral infarction and history of cardiac disease were excluded. Additionally, 50 healthy subjects who were regarded as control group were selected from the department of Neurology of Huizhou Central People＇s Hospital. There were 30 males and 20 females aged 45-80 years. All subjects were consent. METHODS： HD15000 color Doppler ultrasound （Philips Company, USA） and Muliti-DopX2 TCD （DWL Company, Germany） were used to detect hemodynamics, stenosis and distribution of atherosclerosis in carotid artery and internal carotid artery. Evaluation of marker： Stenosis was calculated by the ratio between the minimal cavity and vascular sectional area at the maximal

关键词： TIA Carotid Doppler and transcranial Doppler in diagnosing transient ischemic attack A healthy control

Chinese Internet Searches Provide Inaccurate and Misleading Information to Epilepsy Patients

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Chinese Medical Journal 2015年第24期128卷 3324-3328页

作者： Jian-Ming Liu Ru-Xiang Xu Yong-Sheng Hu Lian-Kun Ren Hui Qiao Hu Ding Zhi-Liang Liu Affiliated Bayi Brain Hospital Bayi Clinical College Southern Medical University Beijing 100700 China department of Function Neurosurgery Beijing Xuanwu Hospital Beijing 100053 China department of Neurology China-Japan Friendship Hospital Beijing 100029 China department of neuroelectrophysiology Beijing Tiantan Hospital Beijing 100050 China

Background： Most patients with epilepsy want to learn as much as possible about the disease, and many have turned to the internet for information. Patients are likely to use information obtained from the internet to control their epilepsy, but little is known about the accuracy of this information. In this survey, we have assessed the feasibility and usability ofinternet-based interventions for the treatment of epilepsy. Methods： Data were collected from an internet search. Different search terms were used to obtain general information on epilepsy together with information about medication, types of epilepsy, treatment, women＇s health, and other information. The accuracy of the information was evaluated by a group of experts. Results： A total of 1320 web pages were assessed. The majority were websites related to health. A large number （80.2%） of web pages contained content related to the search term. A significant number of web pages 450/1058 （42.5%） claimed to provide information from a credible source： however, only 206/1058 （19.5%） of the information was accurate and complete; 326/1058 （30.8%） was accurate but incomplete; 328/1058 （31.0%） was correct but nonstandard, and 198/1058 （18.8%） was inaccurate. The authenticity of the information was not significantly different between the two search engines （x^2 = 0.009, P - 0.924）. No significant difference was observed in the information obtained from a specialist or nonspecialist source （x^2 = 7.538, P- 0.057）. There was also no correlation between the quality of the information and the priority （x^2 = 6.880, P = 0,076）. Conclusions： Searching for information about epilepsy on the internet is convenient, but the information provided is not reliable. Too much information is inaccurate or for advertisement purposes, and it is difficult for patients to find the useful information. Turning to the internet for medical knowledge may be harmful. Physicians should be aware that their patients may search for information on the internet and guide them to safe, reputable web

关键词： Epilepsy Health Information Internet Self-management

Effects of low-frequency repetitive transcranial magnetic stimulation on electroencephalogram and seizure frequency in 15 patients with temporal lobe epilepsy following dipole source localization

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Neural Regeneration Research 2008年第11期3卷 1257-1260页

作者： Xiaoming Wang Deben Yang Shunxian Wang Xiaoqiong Zhao Lilan Zhang Zhiqiong Chen Xiangrong Sun Research Room of neuroelectrophysiology Institute of Neurological Diseases Hospital Affiliated to North Sichuan Medical CollegeNanchong 637000 Sichuan Province China

BACKGROUND： Low-frequency repetitive transcranial magnetic stimulation （rTMS） has been shown to significantly reduce epileptiform discharges and control clinical seizures in intractable epilepsy patients. The location of epileptic foci and magnetic stimulation sites remain uncertain. The effects of rTMS on electroencephalogram and seizure remain unclear in epileptic patients following dipole source localization. OBJECTIVE： To investigate the effects of low-frequency rTMS on electroencephalogram and seizure in temporal lobe epilepsy patients after dipole source localization. DESIGN, TIME AND SETTING： The randomized, controlled study was performed at the outpatient clinic department of Neurology, Hospital Affiliated to North Sichuan Medical College from December 2003 to February 2007. PARTICIPANTS： A total of 30 temporal lobe epilepsy patients, comprising 19 males and 11 females, aged 1749 years, presented with epileptiform discharges and were enrolled for this study. Disease course ranged between 1-6 years, with 1-5 seizures per month. Imaging examinations revealed 11 patients with structural changes in the brain. The patients were randomly and equally assigned into drug treatment and transcranial magnetic stimulation （TMS） groups. METHODS： Patients in the drug treatment group were orally treated with carbamazepine. Patients in the TMS group received oral carbamazepine treatment of and TMS. A Maglite-r25 magnetic stimulator （Dantec Dynamics, Denmark） was used to stimulate epileptic foci in the temporal lobe following electroencephalogram dipole localization （1 Hz, 90% threshold intensity, at a stimulation frequency of 500 times, once a day, for 7 days）. MAIN OUTCOME MEASURES： At 30 days after TMS, seizure frequency and rate of epileptiform discharges were observed in patients from both groups. Therapeutic safety was investigated during treatment. RESULTS： Within 30 days of treatment, there were no significant differences in seizure frequency between the TMS group （1.5 ± 0.3） seizures and the drug treatment group [

关键词： dipole localization electroencephalogram epilepsy transcranial magnetic stimulation

Association of neuroelectrophysiology and analysis of cerebrospinal fluid immunoglobulin with pathogenetic conditions of patients with Guillain-Barre syndrome

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Neural Regeneration Research 2006年第3期1卷 271-273页

作者： Haibin Huang Xunliang Mai Xiaohong Ye department of Neurology Shenzhen Municipal Shekou Union Hospital Shenzhen 518067 Guangdong Province China department of neuroelectrophysiology People＇s Hospital of Guangdong Province Guangzhou 510080 Guangdong Province China

BACKGROUND： Guillain-Barre syndrome （GBS） is an autoimmune disease which is characterized by demyelination of peripheral nerve and nerve root, and inflammatory reaction of lymphocyte and macrophage. Neuroelectrophysiological examination and cerebrospinal fluid （CSF） analysis are of significance for its diagnosis. OBJECTIVE： To study the association of neuroelectrophysiology and cerebrospinal fluid immunoglobulin （CSF-lg） with pathogenetic conditions of patients with GBS. DESIGN： Case control study SETTING： department of Neurology, Shenzhen Municipal Shekou Group Hospital; department of neuroelectrophysiology, People＇s Hospital of Guangdong Province. PARTICIPANTS： A total of 32 GBS patients including 18 males and 14 females who aged from 17 to 72 years were selected as experimental group from the department of Neurology, People＇s Hospital of Guang- dong Province from January 2004 to December 2005. All cases conformed with GBS diagnostic criteria established by Asbury in 1990 and they were divided into three types according to neurological criteria established by Chinese Neurology and Psychology Journal in 1993： mild, moderate and severe types. Another 30 patients with vascular headache were selected as control group from the same hospital including 14 males and 16 females who aged from 17 to 79 years. METHODS： ① Neuroelectrophysiological examination： Multiple-functional electromyography device provided by Nicolet Company, USA was used to measure nerve conduction velocity （NCV）, including motor nerve conduction velocity （MCV） and sensory nerve conduction velocity （SCV）; meanwhile, electromyologram （EMG）, somatosensory evoked potential （SEP） and electroencephalogram （EEG） were also measured. ② Detection of CSF-lg： Concentrations of IgG, IgA and IgM were measured with immunofixation electrophoresis. ③Follow-up： Among 32 GBS patients, 14 cases received follow-up after treatment and the longest fol- low-up time was 1 year after onset. Among them, 8 cases were reexaminined with neuroelectrophysiological and CSF examinat

关键词： CSF GBS Association of neuroelectrophysiology and analysis of cerebrospinal fluid immunoglobulin with pathogenetic conditions of patients with Guillain-Barre syndrome