Study on the Relationship between Serum LncRNA SNHG11 and HIF-1α Level Expression and Vasculogenic Mimicry of Cancer Tissues in Ovarian Cancer / 现代检验医学杂志

Objective To investigate the relationship between the expression of long non-coding RNA(LncRNA)small nucleolar RNA host gene 11(SNHG11)and hypoxia inducible factor(HIF)-1α and angiogenesis mimicry(VM)in ovarian cancer.Methods A total of 116 ovarian cancer patients admitted to Tangshan Maternal and Child Health Care Hospital from October 2019 to January 2023 were regarded as the research subjects.Based on whether VM had formed,ovarian cancer patients were grouped into VM group(n=51)and non VM group(n=65).Another 50 partients who underwent health examinations during the same period were regarded as the control group.Real-time fluorescence quantitative PCR(qPCR)was applied to detect the expression levels of LncRNA SNHG11 and HIF-1α in serum of ovarian cancer patients and control groups.Spearman correlation was applied to detect the relationship between LncRNA SNHG11,HIF-1α,and VM formation.The diagnostic value of LncRNA SNHG11,HIF-1α,and their combined detection in the formation of VM in ovarian cancer patients was analyzed using the receiver operating characteristic(ROC)curve.Results Compared with the control group,the levels of serum LncRNA SNHG11(3.01±0.88,2.21±0.68 vs 1.12±0.35)and HIF-1α(2.16±0.67,1.60±0.44 vs 1.01±0.31)in ovarian cancer patients with VM group and non VM group were increased(t=12.136,9.006;19.890,16.591,all P＞0.05),the levels of serum LncRNA SNHG11 and HIF-1αin the VM group were obviously higher than those in the non VM group(t=8.957,8.595),and the differences were statistically significant(all P＜0.05).The expression of LncRNA SNHG11,HIF-1α,and the formation of VM were not related to age and tissue type(t=1.036,0.976,0.218;1.254,1.390,0.368,all P＞0.05),but were related to tumor size,FIGO staging,lymph node metastasis,and pathological grading(t=5.351,5.186,13.264;5.465,5.227,10.898;6.063,6.016,5.374;4.030,5.871,5.509,all P＜0.05).Spearman correlation analysis showed that there were obvious positive correlations between LncRNA SNHG11,HIF-1α,and VM generation(r=0.560,0.494,all P<0.05).ROC curve results showed that the areas under the curve(AUCs)of serum LncRNA SNHG11 and HIF-1α for diagnosing VM formation in ovarian cancer patients were 0.860 and 0.824,respectively,with sensitivity of 80.4%and 75.6%,specificity of 58.9%and 51.9%,respectively.The AUC of VM formation in ovarian cancer patients diagnosed by the combination of the two was 0.941,with sensitivity and specificity were 92.2%and 79.9%,respectively.Conclusion The abnormal expressions of LncRNA SNHG11 and HIF-1α were closely related to the formation of VM in ovarian cancer patients,and both may serve as potential biological indicators for judging VM.

Evaluation of the effect of health education on iodine deficiency disorders in Jilin Province from 2015 to 2019 / 中华地方病学杂志

Objective:To learn about the cognition of iodine deficiency disorders (IDD) prevention knowledge among key population in the IDD area of Jilin Province, and to evaluate the effect of health education.Methods:From 2015 to 2019, 10 counties (cities, districts, hereinafter referred to as counties) in Jilin Province were selected as project counties every year. Public health education covered the entire project county. In each project county, 3 project townships were selected, and students of grades 4-6 were selected from the central primary schools of each project township for school health education. In each project township, 3 project villages were selected to carry out community health education. Before and after health education, 30 fifth-grade students were selected from the central primary school of each project township, and 15 housewives were selected from the vicinity of each primary school to conduct a questionnaire survey on IDD prevention knowledge.Results:After health education, the overall awareness rate of IDD prevention knowledge among primary school students and housewives in Jilin Province was 96.26% (13 324/13 842) and 96.40% (6 819/7 074), which was significantly higher than that before the intervention [65.36% (9 032/13 818) and 71.26% (5 039/7 071)], and the differences were statistically significant (χ 2 = 4 258.34, 1 647.92, P < 0.001), and the awareness rates of primary school students and housewives increased by 30.90% and 25.14%, respectively. Conclusion:Health education has significantly increased the awareness rate of IDD prevention knowledge among key populations in Jilin Province, and is an important measure to ensure the continuous elimination of IDD.

Smoking network characteristics of smoking cessation outpatients in Kunming City / 中华健康管理学杂志

Objective:To analyze the characteristics of smoking network among smokers in Kunming smoking cessation outpatient service.Methods:A multicenter, cross-sectional study was carried out, and smoking cessation outpatients from 8 tertiary hospitals (the Second Affiliated Hospital of Kunming Medical University, the First Affiliated Hospital of Kunming Medical University, Yan′an Hospital, Ganmei Hospital, the 920 Hospital of the Chinese People′s Liberation Army Joint Logistic Support Force, Kunming First People′s Hospital, the First People′s Hospital of Yunnan Province and the Second People′s Hospital of Yunnan Province) in Kunming, Yunnan Province were included to receive a questionnaire survey. The questionnaire mainly consisted of four parts: (1) demographic characteristics of smokers; (2) the specific situation of smoking; (3) social support network; (4) smoking network. A total of 360 questionnaires were distributed in this survey, 351 were recovered, and 351 were valid, the collected data from valid questionnaire were statistically analyzed to analyze the social demographic characteristics, smoking status and smoking network characteristics of smokers.Results:In this survey, the demographic characteristics of the 351 patients in the smoking cessation clinic were as follows: there were 342 male cases (97.4%), 249 cases (70.9%) were Han, 233 patients (66.4%) were non-religious, there were 236 cases (67.2%) with college degree or above, and 51 cases (14.5%) were unemployed. The analysis of smoking status showed that 167 patients (47.6%) maintained daily smoking, 247 patients (70.4%) had plans to quit smoking, at least one parent of 258 patients (73.5%) had a history of smoking, 188 patients (53.6 %) smoked at home. In the smoking network of the surveyed patients, there were 304 patients (86.6%) who smoked together with two or more people, and more than 90 percent of the patients smoked with the same sex.Conclusions:The smoking network of patients in Kunming smoking cessation clinic is small, and a third of smokers are friends. It is suggested to use the characteristics of smoking network to carry out smoking cessation intervention activities, so as to improve the success rate of smoking cessation.

Research on the pathogenesis of neurodevelopmental disorders / 中国医师杂志

Neurodevelopmental disorder (NDD) is a kind of chronic developmental brain dysfunction disease, with strong phenotypic heterogeneity, complex etiology, strong heredity, most of which lack effective drug treatment, and high incidence rate and disability rate. With the advancement of detection technology, more and more mechanisms of NDD have been discovered, driving the progress of its drug treatment. Strengthening research on the pathogenesis of NDD in the future will contribute to the development of better treatments, thereby improving the quality of life and prognosis of patients.

NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review / 中南大学学报(医学版)

More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and NEXMIF is a pathogenic gene for XLID. In addition to intellectual disability, patients with NEXMIF gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with intellectual disability and epilepsy caused by NEXMIF gene mutation were treated in the Department of Pediatrics, Xiangya Hospital, Central South University from March 8, 2017 to June 20, 2020. Patient 1, a 7 years and 8 months old girl, visited our department because of the delayed psychomotor development. Physical examination revealed strabismus (right eye), hyperactivity, and loss of concentration. Intelligence test showed a developmental quotient of 43.6. Electroencephalogram showed abnormal discharge, and cranial imaging appeared normal. Whole exome sequencing revealed a de novo heterozygous mutation, c.2189delC (p.S730Lfs*17) in the NEXMIF gene (NM_001008537). During the follow-up period, the patient developed epileptic seizures, mainly manifested as generalized and absent seizures. She took the medicine of levetiracetam and lamotrigine, and the seizures were under control. Patient 2, a 6-months old boy, visited our department due to developmental regression and seizures. He showed poor reactions to light and sound, and was not able to raise head without aid. Hypotonia was also noticed. The electroencephalogram showed intermittent hyperarrhythmia, and spasms were monitored. He was given topiramate and adrenocorticotrophic hormone (ACTH). Whole exome sequencing detected a de novo c.592C>T (Q198X) mutation in NEXMIF gene. During the follow-up period, the seizures were reduced with vigabatrin. He had no obvious progress in the psychomotor development, and presented strabismus. There were 91 cases reported abroad, 1 case reported in China, and 2 patients were included in this study. A total of 85 variants in NEXMIF gene were found, involving 83 variants reported in PubMed and HGMD, and the 2 new variants presented in our patients. The patients with variants in NEXMIF gene all had mild to severe intellectual disability. Behavioral abnormalities, epilepsy, hypotonia, and other neurological symptoms are frequently presented. The phenotype of male partially overlaps with that of female. Male patients often have more severe intellectual disability, impaired language, and autistic features, while female patients often have refractory epilepsy. Most of the variants reported so far were loss-of-function resulted in the reduced protein expression of NEXMIF. The degree of NEXMIF loss appears to correlate with the severity of the phenotype.

Precise diagnosis and treatment of pediatric central nervous system immune-related disease under molecular era / 中国医师杂志

Pediatric central nervous system (CNS) immune-related disease is a group of heterogeneous inflammatory conditions mainly affecting CNS. They usually happen in previously healthy individual, with varied clinical manifestations, pathophysiology and genetic changes. Patients require different therapy as well as have different prognosis. Immunotherapy often is helpful to control the disease. With the development of molecular techniques within the recent 10 years, the clinical spectrum and pathogenesis of these neuroinflammatory diseases is being recognized. Further investigations into these diseases are helpful for early diagnosis and targeted immunotherapy, contribute to decrease the mortality and morbidity, then improve the clinical outcome eventually. This study mainly discuss the neuroinflammatory diseases primarily happen in CNS.

Progress in diagnosis and treatment of myasthenia gravis in children / 中国医师杂志

Myasthenia gravis (MG) is an autoimmune disease with neuromuscular junction (NMJ) transmission disorder mediated by various antibodies, dependent on cellular immunity, and involved in complement and cytokines. MG is one of the common diseases in pediatric neurology, which is different from adult MG in diagnosis and treatment. However, there is still a lack of accurate and efficient diagnosis and treatment plan for pediatric MG. In recent years, with the development of pathogenesis, targeted diagnosis and treatment of NMJ transmission disorders caused by immune network disorders in immunopathology and pathogenic antibodies is the current main research direction. This article reviews the progress of auxiliary examination and treatment of MG in children.

In vitro inhibitory effects of resveratrol on rabies virus / 中华微生物学和免疫学杂志

Objective:To analyze the in vitro inhibitory effects of resveratrol on rabies virus. Methods:The challenge virus standard (CVS)-11 strain of rabies virus and BHK-21 cells were used to establish the infection model. In vitro inhibitory effects of resveratrol on rabies virus were analyzed at different stages of infection by direct immunofluorescence and cell fluorescence focus unit assay. Results:Without affecting cell growth, resveratrol could block the adsorption of virus, interfere with the entry of virus into cells and inhibit virus proliferation in a concentration-dependent manner. The inhibition rate could reach up to about 95%. The results of co-incubation experiment showed that 40 μmol/L resveratrol could directly kill the virus.Conclusions:This study indicated that resveratrol inhibited the activity of rabies virus in a concentration-dependent manner.

miR-92a promotes proliferation and inhibits apoptosis of prostate cancer cells through the PTEN/Akt signaling pathway.

MicroRNAs (miRNAs) play an important role in the development of prostate cancer (PCa). Recent studies have shown that miR-92a expression is significantly increased in various cancers including PCa. However, its specific mechanism in PCa remains unknown. The goal of this study was to investigate the effect of miR-92a expression on the function and mechanism of PCa. PCa cell lines PC-3 and LNCap were transfected with miR-92a inhibitor to reduce the expression of miR-92a, respectively. The cell proliferation, cell viability, apoptosis, cell invasion and migration ability of PCa cells were examined by CCK8 assay, cell cloning, flow cytometry, Transwell assay and scratch assay, respectively. The effects of miR-92a on PTEN/Akt signaling pathway-related factors (PI3k, Akt, p-PI3k, p-Akt, PTEN) were also observed by RT-qPCR and Western blot. Compared with the control group and NC inhibitor group, the viability, cell migration and invasion ability of PC-3 and LNCap cells were decreased and apoptosis was significantly increased after interference with miR-92a expression. In addition, the mRNA and protein levels of PTEN in PC-3 and LNCap cells in the miR-92a inhibitor group were significantly increased, while the phosphorylation levels of PI3K and AKT were significantly decreased. MiR-92a might play a key role in regulating the proliferation, migration and invasion of PCa cells through the PTEN/Akt signaling pathway. Inhibition of miR-92a expression has practical value against PCa and provides ideas for further clinical treatment of patients with PCa.

An evaluation of the effect of health education on iodine deficiency disorders in Jilin Province in 2019 / 中华地方病学杂志

Objective:To understand the awareness status about prevention and treatment of iodine deficiency disorders (IDD) in the target population in Jilin Province, and to evaluate the effect of IDD health education.Methods:In 2019, 10 counties (cities, districts) were selected as project counties in iodine deficiency area of Jilin Province, to carry out the health education activities of IDD prevention and treatment. And 3 townships (towns) were selected from each project county, and school health education were carried out among students of grade 4-6 in central primary schools in each township (town); 3 villages were selected from each township (town) to carry out community health education. Before and after health education intervention, 30 students from one class of grade 5 from each central primary school and 15 housewives in the place where the school was located were selected to conduct a questionnaire survey of IDD prevention and treatment knowledge in each township (town). The awareness rate of IDD prevention and treatment knowledge and intervention effect were evaluated.Results:A total of 900 primary school students and 460 housewives were investigated in the baseline survey, the awareness rates of IDD prevention and treatment knowledge were 68.30% (1 844/2 700) and 80.14% (1 106/1 380). After the health education intervention, 905 primary school students and 459 housewives were investigated, and the awareness rate of IDD prevention and treatment knowledge was 95.95% (2 605/2 715) and 96.22% (1 325/1 377), respectively. Compared with that before the intervention, there was an increase of 27.65 and 16.08 percentage points, respectively, the differences were statistically significant (χ 2=706.239, 170.904, P < 0.01). Conclusion:After carrying out of health education, the awareness rates of IDD prevention and treatment knowledge of primary school students and housewives in iodine deficiency area of Jilin Province are significantly increased and health education has achieved good results; IDD health education should be continuously strengthened.

Mechanisms of miR-103a-3p/CHI3L1 in proliferation and vascular mimicry of ovarian cancer cells / 国际肿瘤学杂志

Objective:To investigate the mechanisms of microRNA (miR)-103a-3p/chitinase-3-like protein 1 (CHI3L1) in the proliferation and vascular mimicry of ovarian cancer cells and its effect on transforming growth factor-β (TGF-β) pathway.Methods:The relationship between the expression level of miR-103a-3p and the overall survival rate of ovarian cancer patients was analyzed by bioinformatics. The human ovarian adenocarcinoma SKOV3 cells were divided into 4 groups: control group, miR-103a-3p mimic group, miR-103a-3p mimic+ CHI3L1 group and CHI3L1 group. Quantitative polymerase chain reaction (qPCR) and Western blotting were used to detect the expression levels of miR-103a-3p, CHI3L1 mRNA and CHI3L1 protein respectively. The expression level of YKL-40 in cell culture fluid was detected by enzyme-linked immunosorbent assay. The cell viability, proliferation ability and angiogenesis ability of the 4 groups were detected by CCK-8 method, clone formation experiment and angiogenesis experiment. The dual luciferase report verified that miR-130a-3p targeted CHI3L1.Results:The overall survival rate of ovarian cancer patients with high expression of miR-103a-3p was higher than that of patients with low expression of miR-103a-3p ( χ2=6.187, P=0.048). The differences in miR-103a-3p and CHI3L1 mRNA levels among the control group, miR-103a-3p mimic group, miR-103a-3p mimic+ CHI3L1 group and CHI3L1 group were statistically significant ( F=198.254, P<0.001; F=60.214, P<0.001), miR-103a-3p mimic group and miR-103a-3p mimic+ CHI3L1 group had higher miR-103a-3p levels than the control group (all P<0.001), CHI3L1 group had higher CHI3L1 mRNA level than the control group ( P<0.001). The expression levels of CHI3L1 protein in the 4 groups were 2.25±0.23, 1.19±0.12, 2.29±0.28 and 4.31±0.37, and the difference was statistically significant ( F=18.675, P<0.001). The expression levels of YKL-40 in the cell culture fluids of the 4 groups were (1.84±0.20) ng/ml, (0.95±0.08) ng/ml, (2.64±0.25) ng/ml, (6.27±0.79) ng/ml, and the difference was statistically significant ( F=35.297, P<0.001). The YKL-40 level of the CHI3L1 group was significantly higher than that of the control group ( P<0.001), the miR-103a-3p mimic group was lower than the control group ( P<0.001), and the miR-103a-3p mimic+ CHI3L1 group was higher than the miR-103a-3p mimic group ( P<0.001). The cell viabilities of the 4 groups were 100%±2.54%, 76.23%±2.13%, 104.89%±3.56% and 137.42%±2.80%, and the difference was statistically significant ( F=23.584, P<0.001). The cell viability of the miR-103a-3p mimic group was significantly lower than that of the control group ( P<0.001), the CHI3L1 group was higher than the control group ( P<0.001), and the miR-103a-3p mimic+ CHI3L1 group was higher than the miR-103a-3p mimic group ( P<0.001). The number of clones formed in the 4 groups were 76.85±4.67, 21.56±2.85, 72.06±5.07 and 169.63±9.21, and the difference was statistically significant ( F=31.541, P<0.001). The proliferation capacity of the miR-103a-3p mimic group was significantly lower than that of the control group ( P<0.001), the CHI3L1 group was higher than the control group ( P<0.001), and the miR-103a-3p mimic+ CHI3L1 group was significantly higher than the miR-103a-3p mimic group ( P<0.001). The differences in the relative tube lengths and the tube bramches of the 4 groups were both statistically significant ( F=24.254, P<0.001; F=27.564, P<0.001). The differences in TGF-β and Smad levels of the 4 groups were both statistically significant ( F=30.254, P<0.001; F=34.187, P<0.001). The results of dual luciferase experiments showed that compared with the NC group, the luciferase activity in cells co-transfected of miR-103a-3p and CHI3L1-wt was significantly reduced. The difference of luciferase activity between the cells transfected with NC and co-transfected with miR-103a-3p and CHI3L1-mut was not significant. Conclusion:MiR-103a-3p can directly inhibit the expression of CHI3L1 and inhibit the proliferation and angiogenesis of ovarian cancer SKOV3 cells to inhibit ovarian lymphatic metastasis and distant metastasis, which may be related to the TGF-β pathway.

Clinical analysis of 71 cases of anti-N-methyl-D-aspartate receptor encephalitis in children / 中华儿科杂志

Objective@#To investigate the clinical features, treatment strategies and long term outcomes of children with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis.@*Methods@#The data of clinical features, auxiliary examinations, treatments and prognosis in children with anti-NMDAR encephalitis in Xiangya Hospital of Central South University from March 2014 to October 2017 were collected and retrospectively analyzed. A total of 71 patients were enrolled, including 33 males and 38 females. The youngest age of onset was 4 months old, and the age of onset was (9±4) years. The first-line immunotherapy treatment for anti-NMDAR encephalitis was short course corticosteroid (high-dose impulse therapy and oral maintenance therapy for 1 month in acute period) and (or) immunoglobulin. The clinical evaluation was performed 2 weeks after first-line immunotherapy treatment. The second-line immunotherapy treatment, including rituximab and (or) cyclophosphamide, would be started if the symptoms did not improve significantly and the modified Rankin scale (mRS) score ≥3. All patients were followed up and evaluated for prognosis. T-test, Mann-Whitney U, Chi square test and Fisher′s exact probability method were used for comparison between good outcome group and poor outcome group, first-line immunotherapy group and first-line immunotherapy combined with second-line immunotherapy group.@*Results@#The more common clinical manifestations were psychiatric symptoms (n=61, 86%), dyskinesia (n=55, 77%) and convulsions (n=51, 72%). Two cases (3%) had tumors. Electroencephalogram (EEG), cerebro-spinal fluid (CSF) and brain magnetic resonance imaging (MRI) studies were abnormal in 83% (59/71), 39% (27/69) and 38% (27/71) patients, respectively. For the treatment regimens, all the 71 patients underwent first-line immunotherapy, resulting in improvement within 14 days in 40 cases (56%), and 1 case (1%) died. The rest 30 cases (42%) received second-line immunotherapy. The patients were followed up for 5.0-41.8 months, with a median of 19.3 months. At the last follow-up, 49 cases (69%) recovered completely, 15 cases (21%) had mild disability, 6 cases (8%) had severe disability, 1 case (1%) died and 3 cases (4%) had relapse. There were significant differences between the groups with good prognosis and poor prognosis on admission to pediatric intensive care unit (PICU) and consciousness disorder (10/64 vs. 5/7, 39/64 vs. 7/7, P=0.047, 0.004). There were significant differences between first-line immunotherapy group and the first-line combined second-line immunotherapy group on admission to PICU, consciousness disorder, sleep disorder and first mRS score (12% (5/41) vs. 33% (10/30), 44% (18/41) vs. 93% (28/30), 56% (23/41) vs. 90% (27/30), 3 (1-5) vs. 4 (3-5), respectively; χ2=4.645, 18.555, 9.560, Z=5.184, P=0.031, <0.01, 0.002, <0.01, respectively).@*Conclusions@#Anti-NMDAR encephalitis can occur in all ages of children. The most common clinical manifestations are psychotic symptoms, dyskinesia and convulsions. Paraneoplastic cases are less common in children. Immunotherapy is effective. The second-line immunotherapy should be given after the failure of first-line therapy (mRS score≥3).

Immunotherapy and prognosis of autoimmune encephalitis / 中华实用儿科临床杂志

Autoimmune encephalitis(AE) is one of the most rapidly developing research fields in pediatric neurology.Previous studies have indicated that delayed-use or non-use of immunotherapy will lead to poor prognosis.Therefore, this article summarizes the current opinion of immunotherapy and prognostic factors for AE in order to provide treatment guidance for clinicians.

Diagnosis and treatment of 12 cases of febrile infection-related epilepsy syndrome / 中国医师杂志

Objective To investigate the clinical features,diagnosis and treatment of febrile infection-related epilepsy syndrome (FIRES).Methods The clinical data of 12 children with FIRES admitted to Xiangya Hospital of Central South University from 2015 to 2018 were retrospectively analyzed.The basic information,clinical manifestations,electroencephalogram,imaging examination,treatment and prognosis were analyzed.Results Of the 12 patients,7 were male and 5 were female.The age of onset was (7.0 ± 3.7)years (1.3 year to 13 years).The average hospitalization time (34-86 days,median 52 days).Twelve patients were healthy before the disease,and had fever before convulsion.The interval between fever and seizure was (3.5 ± 1.7) days (1-7 days).The status epilepticus and consciousness deficit were the main clinical manifestations.The electrogram of 8 patients showed status epilepticus when admitted.12 patients had disturbance of consciousness;the acute episodes were focal seizures (100％,12/12) and generalized tonic-clonic seizures (41.7％,5/12).All patients used 3-5 antiepileptic drugs (median 4),all treated with hormones and gamma globulin.4 patients with ketogenic diet (KD) were treated within 2 weeks of onset,and the average duration from onset to electroencephalogram (EEG) improvement was (19.2 ± 5.0)days.In 8 patients who did not use KD within 2 weeks of onset,the average duration from onset to EEG improvement was (29.9 ± 9.6) days.Conclusions FIRES is more common in normal children with school age.The main manifestation is refractory status epilepticus in the days after acute fever,focal episodes of seizures,anti-epileptic drug resistance.Early initiation of KD produces a favorable prognosis.

Diagnosis and treatment of 12 cases of febrile infection-related epilepsy syndrome / 中国医师杂志

Objective@#To investigate the clinical features, diagnosis and treatment of febrile infection-related epilepsy syndrome (FIRES).@*Methods@#The clinical data of 12 children with FIRES admitted to Xiangya Hospital of Central South University from 2015 to 2018 were retrospectively analyzed. The basic information, clinical manifestations, electroencephalogram, imaging examination, treatment and prognosis were analyzed.@*Results@#Of the 12 patients, 7 were male and 5 were female. The age of onset was (7.0±3.7)years (1.3 year to 13 years). The average hospitalization time (34-86 days, median 52 days). Twelve patients were healthy before the disease, and had fever before convulsion. The interval between fever and seizure was (3.5±1.7)days (1-7 days). The status epilepticus and consciousness deficit were the main clinical manifestations. The electrogram of 8 patients showed status epilepticus when admitted. 12 patients had disturbance of consciousness; the acute episodes were focal seizures (100%, 12/12) and generalized tonic-clonic seizures (41.7%, 5/12). All patients used 3-5 antiepileptic drugs (median 4), all treated with hormones and gamma globulin. 4 patients with ketogenic diet (KD) were treated within 2 weeks of onset, and the average duration from onset to electroencephalogram (EEG) improvement was (19.2±5.0)days. In 8 patients who did not use KD within 2 weeks of onset, the average duration from onset to EEG improvement was (29.9±9.6)days.@*Conclusions@#FIRES is more common in normal children with school age. The main manifestation is refractory status epilepticus in the days after acute fever, focal episodes of seizures, anti-epileptic drug resistance. Early initiation of KD produces a favorable prognosis.

Clinical analysis of 51 children with seizure secondary to tuberous sclerosis / 中国医师杂志

Objective To analyze the clinical characteristics and treatment of children with tuberous sclerosis (TSC) complicated with epilepsy,so as to improve the level of diagnosis and treatment and improve the prognosis of children with TSC.Methods The clinical data of TSC children complicated with epilepsy diagnosed and followed up in Xiangya Hospital of Central South University were collected and analyzed retrospectively.Results Of the 51 children,49 (96.1％) had their first visit because of epileptic seizures.Their electroencephalogram (EEG) showed epileptiform discharges during the epileptic period.The therapeutic effect of vigabatrin on TSC patients with spastic seizures was significantly different from that of antiepileptic drugs alone or in combination.Conclusions Epileptic seizure is the most common reason for first visit and seizure control will affect the prognosis of children to a large extent.Vigabatrin had remarkable effect on TSC patients with spasm seizure,and rapamycin has broad prospects in the treatment of children with TSC.

Clinical features and treatment of epilepsy with myoclonic-atonic seizures in children / 中华实用儿科临床杂志

Objective To summarize the clinical features,treatment and prognosis of epilepsy with myoclonic-atonic seizures (MAE),in order to provide the data for treatment choice.Methods The clinical data of 7 cases diagnosed as MAE between June 2014 and February 2017 from Department of Pediatrics,Xiangya Hospital of Central South University,were obtained and analyzed.The clinical data included gender,onset age,seizure types,electroencephalography (EEG) pattern,brain magnetic resonance imaging (MRI),genetic testing,treatments,outcome,and so on.Results In 7 cases,5 cases were male and 2 cases were female.Ages of onset were 16 months to 52 months.All patients had myoclonic-atonic and myoclonic seizures.Background EEG activity showed diffuse slow delta waves in all patients.The EEG recordings showed 1.5-3.5 Hz generalized spike-and-wave and polyspike-and-wave in all cases.Chromosome testing,copy number variations (CNVs) and exome-sequencing studies (trios) were performed in 3 cases,in which 1 case was found normal,1 case had mutation for CLN6 (c.434A ＞T) and 1 case had mutation for SLC6A1 (c.714 + 1G ＞ A) were found.Six cases were seizure-free.Seizures were controlled by combination of antiepileptic drugs (AEDs) in 2 cases.The seizures of 2 cases were controlled by adrenocorticotropic hormone (ACTH) and AEDs.The seizures of 2 cases were controlled by ketogenic diet (KD) and AEDs,and 1 case experienced a seizure reduction.Seven patients showed better EEG findings after treatment.Cognitive decline was observed in all cases.Conclusion Diagnosis of MAE relies on the clinical manifestations of epileptic seizures,EEG findings,as well as neurological manifestation.Genetic factors have been considered to play an important role in the etiology of MAE.Combination of Valproate and other AEDs is effective in drug treatment.KD and ACTH have been shown to have superior efficacy compared with traditional medical treatment.

Recurrent fever, bulging fontanelle and elevated white blood cell / 中华实用儿科临床杂志

This patient presented with fever,seizure and bulging fontanelle when he was 6-month-old.According to the investigations,white blood cell (WBC),erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) increased significantly,and Streptococcus Pneumonia grew in both blood and cerebrospinal fluid (CSF).He responded to standard antibiotic treatment poorly even it lasted long enough.At the same time,the inflammation seemed to be over-activated,the WBC level was still elevated,high fever continued.Thus they thought of primary immunodeficiency and sent blood sample for gene panel testing (Sanger sequencing) but got negative result.At last,they added steroid together with anti-tuberculosis drug therapy,his temperature as well as the intracranial pressure became better ever since.At the age of 1 year and 1 month,he got another Streptococcus Pneumonia meningitis,while he was still on anti-tuberculosis drug therapy and tapering off steroid.At this time,he presented with coarse hair,hypohidrosis and delayed eruption of teeth,which strongly indicated Anhidrotic Ectodermal Dysplasia with Immunodeficiency (EDA-ID).NEMO is the most common gene responsible for EDA-ID and locates on X chromosome.It has a pseudogene named IKBKGP which locates downstream of NEMO.IKBKGP and NEMO share 3-10 exons with the homology of 99.8％,which makes it difficult to find out most real mutations within NEMO with Sanger sequencing.Then they performed PCR with the primer starting upstream of the shared exons.Finally,they found out the pathogenic mutation [c.505G ＞ C(p.A169P)] of NEMO,which has been reported.This finding led us to make the right diagnosis as well as the proper treatment and the prognosis for this patient.

Clinical features and genetic analysis of intellectual disability in children with epilepsy of unknown causes / 中华实用儿科临床杂志

Objective To explore the clinical features,genetic causes and prognosis of intellectual disability with epilepsy(ID-E)in children.Methods The data of unknown causes of ID-E children(n=40)who were identified in Department of Pediatrics,Xiangya Hospital of Central South University from March 2015 to March 2016 were respectively analyzed,and follow-up studies were performed to investigate the epilepsy control and intellectual deve-lopment.Results Forty unexplained ID-E included 25(62.5％)male,and 34(85.0％)cases were severe intellectual disability patients.The onset age of epilepsy was 0.16 to 8.00 years old,median age was 1.5 years old.Twenty cases(50.0％)had slow electroencephalogram background,and 22 cases(55.0％)had focal spikes.Ten cases(25.0％)had abnormal cranial images,with brain dysplasia or atrophy.Follow-up lasted from 0.58 to 1.58 years,and 19 cases(47.5％)had seizure control.Twenty-five cases(62.5％)had used at least 2 anti-epilepsy drugs during follow-up,and 19 cases(47.5％)had drug refractory epilepsy.Improvement of mental or motor development in epilepsy controlled group and the uncontrolled group were 12 cases(63.2％)and 2 cases(9.5％).There were separately 8 cases(8/40 cases,20.0％)and 3 cases(3/16 cases,18.8％)diagnosed respectively by whole genome-wide analysis of copy number variants(CNVs)and gene-panel whose CNVs test findings were negative.Conclusions ID-E patients of unknown causes have the following clinical features:they were mostly found in male patients with severe intellectual disability,and drug refractory epilepsy patients have rather high percentage;well controlling of epilepsy is useful for improvement of mental and motor development.Genetic analysis is significant for control and prognosis of ID-E patients,and genome-wide CNVs have high positive rates which can be used as first-tier test to detect genetic etiology of ID-E of unknown cause.

Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene.

Mitochondrial energy metabolism disorder is one of the important reasons of leukodystrophy. Mutations of mitochondrial complex I genes have been implicated in more common neurological disorders such as Leigh syndrome. We describe a case of a child manifested as regression of mental and motor development, aggravated obviously after suffering infection. Physical and auxiliary examinations demonstrated that a series of changes including white matter lesions of magnetic resonance imaging, peripheral neuropathy with high muscle tension and hyperreflexia of limbs pointed to the diagnosis of leukodystrophy, with what can't explain the high levels of lactate and creatine kinase. Spontaneously, genetic analysis covered known leukodystrophy and mitochondrial genes were adapted for this child and his parents. Results showed the child was compound heterozygous mutation (c.278A > G; c.247G > A) within exon 2 in the NDUFAF1 gene, his parents carried a heterozygous mutation each. The authors report a case of leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. This is the first report that NDUFAF1 mutations cause leukodystrophy.