ObjectiveThe purpose of the study was to summarize the characteristics of cellular and humoral immunity in children with Kawasaki's disease (KD),and to explore the role of cellular and humoral immunity in the pathogenesis of KD.MethodsOne hundred and ninety-six subjects with KD were diagnosed and observed.The serum IgG,IgM,IgA and C3,C4 levels were detected by velocity scatter turbidimetry.The levels of T lymphocyte subsets,natural killer cells (NK cells),and B cells were analyzed by flow cytometry.Chi-square test,independent t-test and Spearman analysis were adopted to analyze data.ResultsOne hundred and seventy-two cases were diagnosed as typical KD,24 cases were incomplete KD,17 cases were refractory KD,179 cases responded to IVIG therapy,and 34 cases were CAL.The occurrence of coronary artery lesion (CAL) in the refractory KD group was 52.9％,which was evidently higher than those patients responding to IVIG therapy(14.0％,P＜0.05).In the group of KD,the level of CD19 absolute value(1165±556)/μl was higher than that in the control group(P＜0.05),the ratio of CD4/CD8 (2.19±0.77) was higher than that in the control group (P＜0.05),the levels of serum IgM ( 1.41 ±0.45) g/L,IgA (0.81 ±0.35) g/L,C3 ( 1.31 ±0.26) g/L were higher than those in the control group (P＜0.05),the levels of CD8 (671±308)/μl,NK (337±233)/μl absolute value were lower than those in thc control group (P＜0.05).In refractory KD subgroup,the levels of CD19 absolute value,serum IgM,C3 and the ratio of CD4/CD8 were higher than those in the subgroup responding to IVIG therapy(P＜0.05),while the levels of CD8,NK absolute value were lower than those in the latter(P＜0.05).In the CAL subgroup,the levels of CD19 absolute value,serum IgM,IgA and the ratio of CD4/CD8 were higher than those in the non-CAL subgroup (P＜0.05),while the levels of CD8,NK absolute value were lower than those in the latter(P＜0.05).The differences of all data between typical KD subgroup and incomplete KD subgroup were insignificant (P＞0.05).The severity grade of CAL was positively correlated with the ratio of CD4/CD8(P＜0.05).ConclusionThere are cellular immunity and humoral immunity disturbances in the acute stage of KD,while cellular immunity disturbances are more striking.Cellular immunity and humoral immunity are all involved in the pathogenesis of KD.The immunity dysfunction is more significant in refractory KD and CAL.The occurrence rate of CAL is high in refractory KD.The ratio of CD4/CD8 is relevant to the severity of vascular injury.

Objective To evaluate the effectiveness of noninvasive positive pressure ventilation(NPPV) as a weaning strategy in patients with acute respiratory failure after failure to wean from invasive positive pressure ventilation(IPPV). Method A prospective randomized and controlled clinical trial of weaning of IPPV was carried out in patients mechanically ventilated in mode of IPPV for more than 48 hours with failure in a spontaneous breathing trial(SBT: PSV 6 cmH_2O). Patients with contraindications to NPPV were excluded. After failure the SBT, patients were randomly divided(random number) in two groups. Patients in NPPV group were extubated after being ventilated with high pressure support for 30 minutes and then placed on NPPV. Patients in IPPV group were weaned following conventional procedure. Arterial blood gases, maximal inspiratory pressure, respiratory rate,tidal volume, rapid shallow breathing index, heart rate, arterial blood pressure, and peripheral oxygen saturation were measured before and after failing the SBT. The rate of complications, including pneumonia and tracheotomy duration mechanical ventilation, days of hospital stay and outcome were observed. Findings of the two groups were vompared using the Student t test and the chi-square test. Results The percentage of complications in the NPPV group was lower(22.9% versus 72.2%, P <0.01) ,with lower incidences of pneumonia(6.1%,36.1%; P <0.01) and tracheotomy. Compared between the two groups, days of ICU stay( 14.16(3.45) d vs. 22.57( 7.71 ) d; P <0.01) and total days of mechanical ventilation(14.88±3.76 days vs. 20.68± 2.79 days, P <0.01) of NPPV group are shorter than IPPV group. Conclusions NPPV is a good alternative to the mechanically venti-lated patients who fail in initial weaning attempts. The key to successful NPPV weaning is the proper selection of weaning candidates and using NPPV as soon as possible after extubation.

Adult ; Female ; Humans ; Male ; Medical Staff, Hospital ; Middle Aged ; Occupational Diseases ; epidemiology ; Urticaria ; epidemiology ; Young Adult

Objective: To investigate the use of e-cigarette and analyze its influencing factors among high school students in Wuhan City, so as to provide insights into developing control measures for adolescents. Methods: From September to November 2019, high school students in Wuhan City were selected by the multi-stage stratified cluster random sampling method, and basic information, e-cigarette use and second-hand smoke exposure were collected through questionnaire surveys. Proportions of e-cigarette current use and attempt to use were analyzed, and factors affecting the current use of e-cigarettes were identified using a multivariable logistic regression model. Results: Totally 5 700 questionnaires were allocated, and 5 602 valid questionnaires were recovered, with an effective rate of 98.28%. The respondents included 2 925 males (52.21%) and 2 677 females (47.79%); 4 033 high school students (71.99%) and 1 569 vocational high school students (28.01%). The proportion of attempt to use e-cigarettes was 9.23%, and the proportion of current e-cigarette use was 2.03%. Multivariable logistic regression analysis identified male (OR=2.112, 95%CI: 1.285-3.471), vocational high school (OR=1.967, 95%CI: 1.214-3.186), private high school (OR=9.684, 95%CI: 5.648-16.605), family second-hand smoke exposure (OR=3.064, 95%CI: 1.741-5.392), second-hand smoke exposure in public places (OR=4.402, 95%CI: 1.687-11.484) and having close friends who were smokers (OR=6.432, 95%CI: 3.219-12.852) as factors affecting current e-cigarette use among high school students. Conclusions The proportion of current e-cigarette use among high school students in Wuhan City was 2.03%. Male, vocational high school, private high school, second-hand smoke exposure and having close friends who were smokers may be promoting factors for e-cigarette use.

Obiective:To elucidate the phenotype and the genotype-phenotype correlations in Chinese patients with X-linked adrenoleukodystrophy(X-ALD).Methods:Clinical features of 40 Chinese patients with X-ALD were studied and mutation spectrums were investigated by polymerase chain reaction (PCR) and sequencing. Results:Among these patients, four were siblings from two unrelated families, the others were unrelated. There were 31 cases with childhood cerebral (CCALD), 8 cases with adolescent cerebral (ACALD) and 1 case with adrenomyeloneuropathy (AMN). Visual impairment, which presented in 12 cases (30%), was the most common initial symptom. Nine (69%) of 13 cases who had hydrocortisone and ACTH measured showed adrenal insufficiency. By follow-up date, 19 cases (47.5%) were dead. The interval from onset to death varied from 1 to 6 years and the average were 3.3 years. The mean age at death was 10.5 years. Eleven cases (27.5%) were in vegetable state. The mean interval from onset to apparently vegetable state was 2.8 years (range from 1 to 6 years). Four cases had progressive neurological disability. Four cases were lost follow-up. One case with CCALD and one case with ACALD progressed slowly. The courses of the disease of these two patients were 5 years and 15 years respectively. Thirty five mutations were identified in 40 cases. Most were located within exon 1-3 (40%, 16/40) and exon 6-8 (42%, 17/40). There is a distinct clustering of missense mutations in exon 6 (17%, 7/40). Five types of mutations were associated with CCALD, three with ACALD and a missense mutation was identified in the patients with AMN. The two patients with long disease courses had a missence mutation c.1559 T>A and a nonsense mutation c.1785 G>A respectively. The siblings with similar manifestations and onset age were observed in two families, whose mutations were c.887 A>G and c.1028 G>T. Conclusion:The phenotypes, disease severity and rate of neurodegeneration could not be predicted by the nature of mutations.

OBJECTIVETo analyze clinical characteristics, treatment and prognosis in a cohort of children with vitamin B6 responsive infantile spasms.

METHODTen patients were diagnosed as vitamin B6 responsive infantile spasms in Peking University First Hospital between January 2012 and May 2015.The clinical manifestations, diagnosis and treatment process, video-electroencephalogram, magnetic resonance imaging (MRI), epilepsy related genes and prognosis were retrospectively analyzed.

RESULTOf the 10 patients, 5 were male, and 5 were female. Eight of them were normal at birth, and the other 2 patients had intracranial hemorrhage or anoxia.The age of epilepsy onset was from 3.5 to 8.0 months.All patients presented spasms primarily.Interictal electroencephalogram (EEG) showed hypsarrhythmia at seizures onset. MRI showed normal in 8 patients, and subarachnoid hemorrhage or multiple encephalomalacia foci after hemorrhage respectively in the other 2 patients. The results of blood biochemical, cerebrospinal fluid examination and urinary metabolic screening were negative. Epilepsy related genes including ALDH7A1 gene analysis showed wild type in all patients. Two patients were classified as symptomatic and eight might be idiopathic or cryptogenic. The initial dose of vitamin B6 was 10.0 mg/(kg·d). The interval between seizures onset and taking vitamin B6 was 0 to 4.0 months. Seizures disappeared completely within a week after administration of vitamin B6 in 9 patients and in 1.5 months in one patient.Of the 8 patients whose seizures were controlled completely during the follow-up period, 7 patients' EEG recovered within 1.5 to 4.0 months and then continued to be normal. The EEG of the rest of a patient returned to normal, but showed abnormal discharges after stopping taking vitamin B6. Two patients' EEG continued abnormal and seizures recurred due to vitamin B6 withdrawal. At the last follow-up, seizures were controlled in all patients. Drug treatment in one case had stopped. Vitamin B6 was used in 9 patients at a dose of 0.4 to 10.0 mg/(kg·d). Among them, vitamin B6 monotherapy or coadministration with one low dose antiepileptic drug was applied in 6 or 3 patients respectively. The psychomotor development was normal in 5 patients, mild delay in 3 patients, and severe delay in 2 patients with autism behavior. Of the 2 symptomatic patients, one developed normally and the other showed severe delay.

CONCLUSIONVitamin B6 might have effects on both idiopathic or cryptogenic and symptomatic patients, especially for the former. High dose vitamin B6 should be first tried in all patients with infantile spasms. Patients who had response to vitamin B6 could be controlled within a short time and might have better outcomes. Seizures were not easy to relapse in those whose seizures were controlled and EEG recovered completely. Vitamin B6 could be gradually reduced during the course and might be withdrawn in the future. The recurrence of seizures was closely related to EEG abnormality.

Aldehyde Dehydrogenase ; genetics ; Anticonvulsants ; therapeutic use ; Electroencephalography ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Prognosis ; Recurrence ; Retrospective Studies ; Spasms, Infantile ; diagnosis ; drug therapy ; Vitamin B 6 ; therapeutic use

Objective To summarize the clinical and prognostic features of anti - N - methyl - D - aspartate receptor (NMDAR)encephalitis with demyelinated lesions and discuss the possible pathogenesis. Methods The clini-cal and imaging features of 3 pediatric patients diagnosed as anti - NMDAR encephalitis with demyelinated lesions were analyzed. The published papers were browsed by using " anti - NMDA receptor encephalitis" and " demyelinating"as key words into CNKI,Wanfang and PubMed database from starting point to May,2017. Results In 3 cases,anti -NMDAR encephalitis occurred simultaneously with demyelinated episodes in 2 cases,successively in the other case. One case had AQP4 - IgG positive. Two cases had recurrent course,and 1 case had a single course and poor prognosis. A to-tal of 15 articles reported 41 cases,including 16 (39. 02％)pediatric cases. In these pediatric cases,anti - NMDAR encephalitis occurred in 7 cases (43. 75％)successively and demyelinated episodes occurred in 9 cases (56. 25％) simultaneously. AQP4 antibody and MOG antibody in serum and/ or cerebrospinal fluid were detected in all cases,with either of two antibodies positive in 9 cases (56. 25％). Conclusion Anti - NMDAR encephalitis might occur simulta-neously or successively with demyelinated episodes. Compared with typical patients with anti - NMDAR encephalitis, patients with demyelinated lesions are more likely to relapse and have worse outcomes. Anti - NMDAR encephalitis and demyelinated lesions are both based on similar immune dysfunction or demyelinated lesions are also induced by anti -NMDAR antibodies,which is the probable pathogenesis.

OBJECTIVETo analyze the ATP1A3 mutations in patients with alternating hemiplegia of childhood (AHC) and recognize its value in diagnosing atypical cases.

METHODData of all AHC patients seen at Peking University First Hospital from August 2005 to November 2014 were prospectively collected. Clinical information of the AHC patients and their family members were collected and analyzed. Genomic DNAs were extracted from their peripheral blood. Mutations in ATP1A3 were screened by Sanger sequencing after PCR.

RESULTA total of 78 AHC patients were recruited, including 50 males and 28 females. Only three patients had family history of AHC. The first family case had affected mother with AHC; the second family case was the older one of a monozygotic male twins with AHC but their parents were normal; the third family case had a sister with AHC but their parents were normal. The age of onset ranged from six hours to eight years and six months (median: 4 months). According to the Aicardi's clinical diagnostic criteria, 72 patients were considered as typical AHC cases and the other six patients were considered as atypical AHC cases for their age of onset was older than 18 months. Twenty-seven different missense ATP1A3 mutations were detected in 71 (91.0%, 71/78) patients with AHC, including 66 typical and 5 atypical cases. 11 novel ATP1A3 mutations were first reported. ATP1A3 mutations were identified in the three AHC cases with family history. Parental analysis verified that the ATP1A3 mutation of 63 patients (95.5%, 63/66) were de novo origin except lack of five unavailable maternal or paternal genomic DNA. Mutation D801N was found in 20 cases (28.2%), and E815K in 12 cases (16.9%). In the six atypical AHC patients, ATP1A3 mutations were detected in five of them.

CONCLUSIONATP1A3 was the major causative gene of AHC, and mutations were identified as de novo mostly. ATP1A3 mutations in AHC had mutational hotspot, and the most common mutations were D801N and E815K. ATP1A3 mutation screening is helpful for the genetic and definite diagnosis of the atypical AHC cases.

Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Hemiplegia ; genetics ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation, Missense ; Sodium-Potassium-Exchanging ATPase ; genetics

OBJECTIVETo analyze the relationship between the ictal onset zone and dominant interictal epileptiform foci in tuberous sclerosis complex (TSC) patients.

METHODClinical data of 20 patients with TSC which had epileptic seizures during Video-EEG monitoring was assessed. Consistency and dominance of focal interictal epileptiform activity and the ictal onset zone were identified. Concordance between interictal and ictal findings was analyzed.

RESULTOf the 20 patients, 7 were female, and 13 were male. The age of epilepsy onset was from 15 d to 6 years. The Video-EEG monitoring age was from 6 months to 11 years. Family history was found in three cases. Abnormality in neuroimaging existed in 17 of 18 patients who were examined. Interictal EEG showed hypsarrhythmia in 3 patients, multifocal epileptiform activity with a dominant focus in 12 patients, both focal and generalized discharges in 2 patients, and only focal discharges in 3 patients. The seizures types during EEG monitoring included epileptic spasms, partial seizure, atypical absence, and generalized or focal myoclonic seizure. The most common seizure type was partial seizure and then epileptic spasms. EEG in 4 patients with epileptic spasms showed ictal generalized discharges and interictal hypsarrhythmia or generalized discharges. Clinical manifestation of epileptic spasms was asymmetric in 3 patients. Lateralization and location of interictal and ictal discharges were consistent in 2 of the 3 patients, while only lateralization consistency in 1 of the 3 patients. Partial seizures as the only seizure type were monitored in 13 patients. Of the 13 patients, lateralization and location of interictal and ictal discharges were inconsistent in 2 patients (15%), consistent in 8 patients (62%), lateralization or location consistent in 2 patients (15%). One case could not be analyzed because of uncertainty of lateralization and location of seizure onset.

CONCLUSIONIn the majority of patients with TSC, multifocal interictal epileptiform activity is present, in which a most dominance of focal epileptiform activity could be found. For some epileptic seizures or the majority of partial seizures, the ictal onset zone is concordant with the dominance of focal interictal epileptiform foci. The concordance might have positioning reference significance for preoperative evaluation of epilepsy surgery.

Brain ; pathology ; physiopathology ; Brain Mapping ; methods ; Cerebral Cortex ; pathology ; physiopathology ; Child ; Child, Preschool ; Electroencephalography ; statistics & numerical data ; Epilepsies, Partial ; diagnosis ; etiology ; physiopathology ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Predictive Value of Tests ; Retrospective Studies ; Seizures ; diagnosis ; etiology ; physiopathology ; Tuberous Sclerosis ; complications ; diagnosis ; physiopathology

Objective: To explore clinical features and the effect of treatment of neuromyelitis optica spectrum disorders (NMOSD) in childhood. Methods: Children who were hospitalized in Department of Pediatrics, Peking University First Hospital from January 2013 to June 2018 and meeting diagnostic criteria of NMOSD proposed by the International Panel for NMOSD Diagnosis in 2015 were summarized and followed up. The basic information, symptoms of each attack, locations and patterns of new lesions, features of cerebrospinal fluid, serologic markers, treatments and outcomes in these patients were analyzed. Thirty-three children were included in the study, with 13 males and 20 females. The median age of onset was 6.83 (4.25, 8.75) years. Compared aquaporin-4 immunoglobulin G (AQP4-IgG) associated NMOSD with myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) associated NMOSD. Mann-Whitney U test was used for continuous variables and Fisher test for categorical variables in comparison between AQP4-IgG and MOG-IgG associated NMOSD. Wilcoxon test was used for annualized relapse rate (ARR) before and after adding disease-modifying drugs. Results: Optic neuritis (39% (13/33) in initial attacks and 49% (62/127) in total attacks) and myelitis (36% (12/33) in initial attacks and 26% (33/127) in total attacks) were the top two symptoms in both the initial attacks and all 127 attacks during follow-up. There was 42% (37/89) of brain magnetic resonance imaging (MRI) scans in acute phase showing new lesions in supratentorial white matter, with 43% (16/37) showing acute disseminated encepha lomyelitis (ADEM)-like or leukodystrophy-like patterns. AQP4-IgG was detected in 30% (10/33) patients, and MOG-IgG was detected in 55% (11/20) patients, with no combined positive case. In 20 patients treated with rituximab, two were treated after the initial attack. In the other 18 patients, the median annualized relapse rate decreased from 1.86 (1.52, 2.60) before treatment to 0.28 (0, 1.13) during treatment (Z=-3.376, P=0.001). Compared with AQP4-IgG associated NMOSD (10 cases), fever of unknown origin (8/40 vs. 0/33, P=0.007) was more common, area postrema syndrome (0/40 vs. 4/33, P=0.038) was fewer, cell count of cerebrospinal fluid (49.0 (17.5, 115.0) ×10⁶/L vs. 5.5 (3.0, 15.8)×10⁶/L, Z=-3.526, P=0.000) was higher in MOG-IgG associated NMOSD (11 cases). Conclusions In childhood-onset NMOSD, optic neuritis and myelitis were top two symptoms. Childhood-onset NMOSD has high proportion of positive MOG-IgG. Lesions in supratentorial white matter are common. Rituximab could significantly decrease ARR of NMOSD in childhood. However, more studies should be conducted to explore the optimal treatment strategy in different antibody associated NMOSD.