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.

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.

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.

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.

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.

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.

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 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.

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.

The biological characteristics of holoclone from ovarian cancer cell SKOV3 and its ability to form vasculogenic mimicry / 肿瘤

Objective: To observe the biological characteristics of holoclone cells which were sperated by single cell clone from hunman epithelial ovarian cancer SKOV3 cells and its ability to from vasculogenic mimicry (VM): formation. Methods: SKOV3 cells were cultured and separated into three different single cell clones by limited dilution method. The tumor formation test by in nude mice in vivo and soft agar colony formation test were used to compare the biological characteristics of the three kinds of single cell clones. Three-dimensional cell culture model was established to observe the ability of VM formation in three separated cell clones. The expression levels of CD1 33, matrix metalloproteinases-2 (MMP-2): and MMP-9 in holoclone cells, meroclone cells, paraclone cells and parental cells were detected by Western blotting. Results: Single cell clones were cultured for 10-14 days, and the average proportions of the three cell clones were (17.4±0.8): % (holoclone), (30.1 ±0.4): % (meroclone), and (52.5±1.1): % (paraclone), respectively. After three different cell clones were subcutaneously inoculated in female nude mice, the rate of tumor formation of holoclone was 80%, but those of meroclone and paraclone were both 0. The average cell clone formation rates of three cell clones were (16.7 ± 3.8): %, (6.5±1.5): % and (1.2±0.7): %, respectively (P < 0.05). Under the condition of three-dimensional cell cultivation, holoclone cells could form VM, whereas meroclone and paraclone cells couldn't. The expression levels of CD133, MMP-2 and MMP-9 proteins in holoclone group were significantly higher than those of the maternal SKOV3 cells group, and also higher than those of the meroclone and paraclone groups (P < 0.05). Conclusion: Three kinds of single cell clones have heterogeneousness in morphology and biological characteristics, and holoclone cells have the characteristics of tumor stem-like cells, which can form VM. Holoclone may be a SKOV3 cell subset with the higher ability of recurrence.

A survey on the iodine nutrition status and thyroid function in rural population of Jilin province / 中华内分泌代谢杂志

One hundred children aged 8-10 years and 100 adults aged 18-45 from their families in three townships Baoshan,Mingcheng,and Yantongshan of Panshi city,Jilin province were selected in April 2009. In addition,50 pregnant or lactating women,and their 50 infants aged 0-2 years were selected.The median level of iodine in salt at household was 30.2 mg/kg and that of drinking water was 2.8 μg/L.The median levels of urine iodine in school age chidren ( 196.5 μg/L),during pregnancy( 198.5 μag/L),lactation( 224.9 μg/L),and in infants (209.0 μg/L) all were optimal according to World Health Organization criteria.Only the median urine iodine in adults ( 269.0 μg/L) was more than adequate.The prevalence of goiter evaluated by B-ultrasound was 1.8％ in 8-10year-old children.The incidences of various thyroid dysfunctions were low in these residents,such as subclinical hyperthyroidism ( 2.1％ ),subclinical hypothyroidism ( 1.5％ ),and hyperthyroidism ( 1.2％ ). Subclinical hypothyroidism occurred mostly in adults (2.7％),pregnant women ( 1.7％ ),and lactating women ( 1.8％ ) ; and subclinical hyperthyroidism occurred mostly in 8-10 years old school chidren (4.5％) and lactating women (3.6％).These results show that the current iodized salt content has no harmful effect on thyroid function of rural residents in Jilin province.

Relationship between of Tei index and the severity in patients with coronary artery disease / 中国基层医药

Objective To investigate the relationship between Tel index and the extent of coronary artery disease.Methods 100 cases who underwent quantitative coronary angiography(QCA)were enrolled in this study,Frequency spectntm of blood flow of mitral valve and aortic valve was gathered in Pulse Doppler.from which Tei index was calculated.Results 70 patients of 100 cases with coronary angiography were diagnosed coronary heart disease 70%(70/100);coronary angiography in 30 patients with negative excluded coronary heart disease;with the degree of coronary artery stenosis increased Tei index rising trend(0.39±0.03～0.48±0.06):Severe coronary artery stenosis Tei index(0.48±0.06)than the mild coronary artery stencsis(0.42±0.05)increased significantly(q=3.21,P＜0.05),but mild coronary artery stenosis(0.42±0.05)and no narrow group(0.39±0.03)there was no significant difference(q=2.21,P＞0.05);A comparison of Tei index between Gensini integral 41 to 80 cent.≥81 cent and 40 cent were significant different(q=3.28、3.31,all P＜0.05).Conclusion Tei index was postive correlated with the extent of coronary artery disease.