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Objective:To summarize clinical features, outcome and prognosis of anti-myelin oligodendrocyte glycoprotein IgG associated disorders (MOGAD) in children, and to explore the markers of recurrent MOGAD.Methods:The clinical features, imaging, serum and cerebrospinal fluid immune markers, treatments and outcomes were analyzed and compared between children with monophasic and recurrent MOGAD, who were hospitalized in the Department of Neurology, Children′s Hospital Affiliated to the Capital Institute of Pediatrics from January 2019 to February 2020.Results:A total of 22 children were included, of whom 8 patients (36.4%) had a recurrent course and 14 patients (63.6%) had a monophasic course. There was no statistically significant difference in sex, age of onset, clinical symptoms, modified Rankin Scale score, location of lesions and serum anti-myelin oligodendrocyte glycoprotein-IgG (MOG-IgG) titer, overall duration of total immunotherapy, positive antinuclear antibody and history of precursory infection between the two groups ( P>0.05). The serum MOG-IgG titer in the recurrent course group was more likely to remain unchanged or increased, and even increased after treatment, while there was no increase in the serum MOG-IgG titer in the monophasic course group, and the proportion of the patients with serum MOG-IgG titer decreased was higher in the monophasic course group (the monophasic course group: 6/8, the recurrent course group: 2/8), and there was statistically significant difference between the two groups ( P=0.030). The positive rate of MOG-IgG in cerebrospinal fluid in the recurrent course group was significantly higher than that in the monophasic course group at the first attack, the difference being statistically significant (the monophasic course group: 1/10, the recurrent course group: 4/6, P=0.036). The both groups were effecive to first-line immunotherapy, and the clinical symptoms and imaging were completely or partially recovered compared to the acute phase. Seven of 8 patients with recurrent MOGAD were treated with mycophenolate mofetil, and the recurrence rate decreased significantly [annual recurrence rate before treated with mycophenolate mofetil: 2.06 (1.36, 2.34) times/year, annual recurrence rate after treated with mycophenolate mofetil: 0 (0, 0) time/year, Z=-3.26, P=0.001]. The humoral immune status of children treated with mycophenolate mofetil was monitored regularly, and no obvious adverse reactions were found during the follow-up. Conclusions:At least one third of children with MOGAD were recurrent, and the serum MOG-IgG titer of children with recurrent MOGAD continued to be high, and even increased after treatment. Positive MOG-IgG in cerebrospinal fluid at the first attack was found to be a high risk factor for recurrence. The maintenance treatment of mycophenolate mofetil in patients with recurrent MOGAD can significantly reduce the annual recurrence rate and was well tolerated.
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Objective@#To summarize the clinical characteristics of Listeria monocytogenes meningitis (LMM) with complications, and analyze the outcomes of next generation sequencing.@*Methods@#Clinical characteristics, laboratory findings, imaging features, antibiotics treatment, and next generation sequencing of cerebrospinal fluid were analyzed in 3 LMM patients who were hospitalized in the Department of Infectious Diseases of Beijing Children′s Hospital Affiliated to Capital Medical University from July 2015 to November 2017.@*Results@#The three patients were 1-year-old girl, 2-year-old girl, and 9-year-old boy, with normal immune function. They had eaten refrigerated food, milk or dairy products before onset. Symptoms included fever, headache, abdominal pain, diarrhea, vomiting, and convulsions, etc. The complications of two cases (case 2 and 3) were appendicitis and Meckel′s diverticulitis. The other one (case 1) was with sepsis and pneumonia. Leukocyte counts in cerebrospinal fluid were elevated in all the three cases, and cranial magnetic resonance imaging showed meningeal or periventricular involvement. All the children were diagnosed with LMM by positive CSF culture. CSF for next generation sequencing was sent after carbapenem antibiotics using, yet all the results were positive. The positive results were returned 2, 9, and 9 days earlier than culture results, respectively. The gene coverage was 5.00%, 7.00%, 0.04%, and the reads was 2 561, 1 011 and 8, respectively. All the three children had recurrent fever despite using cephalosporin. Levels of leukocytes in the blood and CSF further elevated. After using carbapenem antibiotics, patients improved eventually and were discharged from hospital.@*Conclusions@#LMM can occur in children with normal immune function and is usually associated with digestive system symptoms. Listeria monocytogenes can be detected quickly and accurately by the next generation sequencing technology, without being limited to sampling time and antibiotics application.
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Autoimmune encephalitis is an immune disease in central nervous system which has been paid more and more attention in recent years. Children's autoimmune encephalitis has its unique characteris-tics. Therefore,a full understanding of children's autoimmune encephalitis is particularly important for clinical interventions.
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Objective To evaluate the application value of whole exome sequencing (WES) in diagnosis of NDDs (neuro-developmental disorders) children.Metheod WES was used for the diagnosis of 35 unexplained NDD children, which admitted to the outpatient and ward of Children′s hospital affiliated to Capital institute of pediatric from November 2015 to November 2016.These children′s clinical data was collected detailedly.Using bioinformatics software tools combining with patient′s phenotype, the candidate genetic/genomic variants of these patients were identified from WES data.The final pathogenicity of genetic/genomic variants was interpreted according to the guideline of the American College of Medical Genetics and Genomics (ACMG), meanwhile, the variants validation and co-separation analysis in the parents and their family members were performed by Sanger sequencing, real time-PCR and multiplex ligation-dependent probe amplification (MLPA).Results 14 pathogenic single nucleotide variants (SNVs) and three pathogenic copy number variations (CNVs) were detected in the 35 NDD children, the detection rate in this study is 48.6%.Among the 14 pathogenic SNVs, 11 of them are the definite NDD-related genes according to OMIM database (such as CHARGE syndrome, Wiedemann-Steiner syndrome, Cockayne syndrome, etc.), and six of them are de novo (6/11, 54.6%).Three pathogenic CNVs were identified from WES data, including two microduplications and one microdeletion.Meanwhile, a female child carrying a frame shift mutation in MECP2 was found and the germline mosaicism with low-frequency mutation of this site (8.4%) was confirmed by his father's sperm.Conclusions The diagnosis rate of WES in NDDs children is 48.6% in our small-sample study.In addition to pathogenic/likely pathogenic SNVs, CNVs can be detected successfully from WES data, which effectively improved the diagnosis yield in NDDs children.
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Objective To investigate the sleep structure of children with attention deficit hyperactivity disorder (ADHD) and the differences among subtypes of ADHD.Methods Ninety children with ADHD were diagnosed in Department of Neurology, the Children's Hospital Affiliated to Capital Institute of Pediatrics between June 2012 and June 2013, including 75 boys and 15 girls,6-14 years old [(9.5 ± 2.4) years old], and among them there were 55 cases of ADHD-combined type, 25 cases of ADHD-inattentive type, and 10 cases of ADHD-hyperactive impulsive type.Thirty healthy children whose age and sex matched with ADHD group,came from Beijing and the surrounding area,were selected as the healthy control group,including 23 boys and 7 girls,6-14 years old [(9.2 ± 2.9) years old].Two groups underwent full overnight sleep assessment.Results The latency of rapid eye movement(REM) in children with ADHD was (146.58 ± 47.28) minutes, and the sleep latency was 19.00 minutes [(8.25-37.50) minutes];while the latency of REM in healthy control group was (87.55-± 13.59) minutes, and the sleep latency was 9.00 minutes [(3.50-13.63)minutes].Compared with healthy control group, children with ADHD demonstrated the increased latency REM and sleep latency, and decreased sleep efficiency,the increasing times of awakening and total duration,and these differences were all statistically significant(all P ＜ 0.05).The percentage of non-rapid eye movement(NREM) phase Ⅱ in ADHD hybrid was lower than the ADHD attention-deficit(t =2.012,P ＜ 0.05).Sleep latency in ADHD attention-deficit was longer than the ADHD hybrid(t =2.964,P ＜ 0.05).No statistical differences were found among the various types in other indicators.The prevalence of periodic limb movements in sleep(PLMS) was 27.78％ (25/90 cases) in ADHD group and the prevalence of PLMS was 3.30％ (1/30 cases) in the healthy control group.The differences in prevalence between 2 groups were statistically significant (x2 =8.053, P ＜ 0.05).Conclusions Children with ADHD significantly display more problems with sleep.Sleep latency and NREM Ⅱ are different between ADHD attention-deficit and ADHD hybrid.
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Tourette syndrome is a neuropsychiatric disorder characterized by the presence of both multiple motor and vocal tics. The pathogenesis is obscure . Infection and the immunologic abnormality after infection may be associated with this disease.The major study is about streptococcal infection. Interleukin may play an important role. Morever, some studies indicate that Mycoplasma pneumoniae infection is related to the Tourette syndrome.