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Clinical data (including clinical phenotype and gene mutation characteristics) of a case of epileptic encephalopathy carrying the RHOBTB2 gene mutation treated at the Department of Pediatric Neurology, Shandong Provincial Hospital Affiliated to Shandong First Medical University in June 2020 was analyzed retrospectively.Relevant literatures were reviewed as well.A male patient aged 3 months and 12 days presented with repeated convulsions for 2 days.The main symptoms included afebrile epileptic status, featuring eye deviation to the left, and limb tonic-clonic jerk lasting for about 30 minutes.Physical examinations showed that the child could not control his head and cried lowly.The whole exome sequencing data revealed a novel heterozygous variation in exon 7 of the RHOBTB2 gene: c.1448G>A(p.Arg483His). Seizures were controlled by the treatment of Levetiracetam combined with Topiramate, but remained growth retardation.The prognosis of epileptic encephalopathy caused by the RHOBTB2 gene mutation is poor, and most children have dyskinesia and microcephaly.
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Objective To analyze the clinical and imaging characteristics of pediatric neuromyelitis optica spectrum disorders(NMOSD)in children. Methods The clinical data,imaging manifestations and follow - up data of 16 NMOSD patients at Department of Pediatric Neurology,Shandong Provincial Hospital Affiliated to Shandong Univer-sity between July 2013 and September 2017 were respectively analyzed. Results In 16 patients,initial presentations included optica neuritis(ON)in 5 cases,longitudinally extensive transverse myelitis(LETM)in 6 cases,and among them there were 2 cases with acute disseminated encephalomyelitis and 3 cases with both ON and LETM. Eleven cases received aquaporin - 4(AQP4)antibody examination and 4 cases were found seropositive. One case out of 7 detected cases was found AQP4 antibody positive in cerebrospinal fluid. Eleven cases received optica magnetic resonance imaging (MRI),and 8 cases were found abnormal signals in optic nerve and optica chiasma. The spinal cord MRI showed 13 ca-ses with LETM manifestations,and abnormal signals were found in vertebral segments(5 - 13),and among them 1 case had cervical cord,3 cases were thoracic cord and 9 cases were both of the above. Lesions in the cervical cord in 2 cases were extended upward to the medulla. Fifteen cases received brain MRI and all of them had brain lesions,which were mainly involved in the central and subcortical white matter,thalamus,corpus callosum,brainstem,the junction of spinal cord and medulla,cerebellum,and so on. All patients received treatment for acute attacks with high - dose Methylpred-nisolone and/ or gamma globulin and got obvious relief. Two cases with recurrent ON received treatment of Rituximab and their vision became improved. Fifteen patients were followed up,and 2 cases had limb disorders and 4 cases had visual impairment,other patients had no clinical symptoms. Conclusions Pediatric NMOSD has a diverse clinical pre-sentation at the onset disease. Those who are initial diagnosed acute myelitis,ON and acute disseminated encephalomye-litis should be considered the possibility of NMOSD. Antibody to AQP4 testing can assist the diagnosis. The typical ima-ging characters of NMOSD children are abnormal signals in the high expression area of AQP4. Intracranial lesions are more common in children. The acute treatment includes the high - dose Methylprednisolone and gamma globulin. Rituximab can be used for the recurrent patients.
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Objective To investigate the correlation between family environment,cognitive disposition,self-esteem and adolescent social phobia.Methods 110 adolescents with social phobia and 142 healthy control subjects were selected.They were surveyed by Family Environment Scale of Chinese version (FES-CV),cognitive appraisal orientation test (CAOT),and Self-Esteem Scale (SES).Moreover,the adolescents with social phobia were administered with Social Avoidance and Distress Scale (SAD).Results When compared with the controls,the score of adolescent social phobia group showed significantly lower score in total and optimistic factor of CAOT,cohesion,expressiveness,achievement,activerecreational orientation,organization and self-esteem; but higher in conflict factor.The analysis of the results showed that SAD was significantly and negatively correlated with the score of total and optimistic factor of CAOT,cohesion,expressiveness and SES,while was significantly and positively correlated with the score of conflict factor.The seriousness of the condition was significantly negatively related to the score of optimistic factor,cohesion,expressiveness and SES,while the onset age was significantly positively related to them.The clinical course was significantly negatively related to the cohesion,expressiveness and self-esteem,while was significantly positively related to the score of conflict.Conclusions Negative cognitive disposition,lower cohesion,less expressiveness,higher conflict and lower self-esteem are the major factors that could affect the onset of adolescent social phobia.The more negative the cognitive disposition is,the lower the cohesion,the expressiveness and the self-esteem are,the earlier the onset age and the more serious the illness is.The longer clinical course is in ration to lower cohesion,less expressiveness,higher conflict and lower self-esteem.
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Objective To study the relationship between QT interval and the compements of antipsychotic-induced metabolic syndrome in schizophrenic patients. Methods Totally 460 schizophrenic patients(240 men and 220 women)aged 19～60 from the study cohort of the schizophrenic patients in treatment with antipsychotant were recruited in the study for epidemiologic examinations,involving anthropometry and measurements of blood pressure,fasting ang 2hr plasma levels of glucose and insulin and serum levels of lipid.A standard 12-lead ECG was recorded and the corrected QT (QTc)was calculated accordingly by Bazett formula.HOMA-IR index was calculated for estimating individual insulin resistance.Metabolic syndrome(MS)was diagnosed according to the definition issued by the International Diabetes Federation(IDF)in 2005.Results The prolonged QT interval was found in 124 of the 460 cases(27.0%),and the rates of prolonged QT interval being 21.7% and 32.7% in men and women respectively (χ2=7.13,P<0.01).The prevalences of MS,IR,central obesity,IFG,higher serum level of triglyceride(TG)and lower serum level of high-density lipoprotein cholesterol(HDL-C) were 39.3%,38.7%,35.4%,34.1%,31.3%,29.8% and 27.0% in schizophrenic patients population respectively.The prolonged QT interval was significantly associated with MS,IR,IFG,higher serum level of triglyceride(TG)and central obesity respectively(χ2=4.95～13.63,P<0.05).Conclusion The prolonged QT interval was significantly correlated with antipsychotic-induced metabolic syndrome(MS) and components of abnormal metabolism.
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To summarize the progress of researches of activated components in Chinese herbal medicine and compound preparations that resist human immunodeficiency virus in recent years.Very vast foreground of Chinese herbal medicine in the treatment of AIDS hal been elucidated.