Objective To assess the relative efficacy of no premedication versus simethicone administered 20 or 30 minutes before upper gastrointestinal endoscopy in pediatric patients.Methods Patients older than 6 years who received upper gastrointestinal endoscopy in operating room of digestive endoscopy of Children′s Hospital of Fudan University were included. They were randomly assigned to control group (no simeithicone), simethicone group 1 (receiving simeithicone 20 min before endoscopy), simethicone group 2 (receiving simeithicone 30 min before endoscopy). The 3 groups all received lidocaine (1 mL·year-1) as preparation 5 min before endoscopy. Primary outcome was the quality of visual field (ranging from A to D). Secondary outcomes were the time needed for the examination, adverse events, the acceptability and compliance. The superiority test was employed to compared the difference of quality of visual field between control and simeithicone groups 2 (δ＝0.15) and the non-inferiority test was used to compared the difference between simeithicone 1 and 2 groups (δ＝0.05).Results A total of 600 children enrolled in this study from March 1st to April 30th in 2015 were used for preliminary analysis. Six patients loss of the primary outcome were excluded. There were 594 children in the final analysis. There were 191 children (98 boys) in the control group with the mean age of (10.0±2.6) years, 193 children(108 boys) in simethicone group 1 with the mean age of (10.0±2.7) years, 210 children(111 boys) in simethicone group 2 with the mean age of (9.8±2.5) years. The percentage of children whose visual field quality graded as A or B was 73.8% in the control group(141/191), 95.3% in simethicone group 1 (183/193) and 92.8% in simethicone group 2 (195/210). The percentage of children whose visual field quality graded as A or B either in simethicone 1 group or simethicone group 2 was higher than that in control group(P<0.001). There was significant difference between control and simethicone 2 groups (21.3％, 95％CI:11.9％-26.2％,P=0.006<0.025), and between simethicone group 1 and simethicone group 2(2.5%, 95% CI: -2.1% to 7.1%, P=0.000 69<0.025). The time taken for the examination in 3 groups was (180±96) vs (167±71) vs (162±81) s, without significant difference. The possibility of adverse events was similar among 3 groups.There were 99% and 97.5% in simethicone group 1 and simethicone group 2 that the scores of compliance for receiving simethicone were below 2. And there were 84%, 75.5% and 67.9% in the control group, simethicone group 1 and simethicone group 2 that the scores of compliance for receiving lidocaine were below 2 (P<0.001). There were 97.8%, 95.7%, 97% in 3 groups that the scores of compliance for waiting for the endoscopy were below 2 (P=0.346). Conclusion According to the results of the current analsis, the trial was stopped early. Adding simethicone in preparation 20 min before upper gastrointestinal endoscopy can improve the quality of visual field, and the efficacy is not inferior to 30 min before endoscopy.
Objective To explore the correlation between various laboratory parameters and prognosis, and to establish the risk scoring model of predicting adverse outcomes in children with severe hand, foot and mouth disease (HFMD). Methods All patients with HFMD consecutively admitted to the PICU in Hunan Children′s Hospital from 1st Jan 2012 to 30th June 2014 were included in the study. The data of patients between 1st January 2012 and 30th Dec 2013 were used to establish the mortality risk scoring model. The data of patients from 1st January 2014 to 30th June 2014 were used to verify the model. Receiver operating characteristic curve (ROC) was used to evaluate the cutoff value of laboratory parameters, such as N-terminal pro-brain natriuretic peptide (NT-proBNP), lactate (LAC), white blood cell (WBC), blood glucose (GLU), myocardial enzymes, procalcitonin (PCT) and C-reactive protein (CRP) from January 2012 to June 2014, and analyze the correlation between various laboratory parameters and prognosis, such as serum NT-proBNP, LAC, WBC, GLU, myocardialenzymes（CK, CK-Mb, LDH, Mb）, PCT, CRP, to screen the laboratory parameters which could predict the prognosis by ROC curve, and analyze its sensitivity and specificity and to classify each index with the critical value, analyze the influence of each index in prognosis with Logistic regression analysis, and give the grades by the power to establish and validate the risk scoring model. Results A total of 362 patients with the mean age of (24±14.8) months including 230 boys were included in the risk scoring model. 337 patients survived at the end of the PICU stay, 25 patients (6.9%) died. 171 patients with the mean age of (24.3±13.5) months including 111 boys were included as the data model of validation. 337 patients survived at the end of the PICU stay, 11 patients (6.4%) died. The area under the receiver-operating characteristics (ROC) curve was >0.7 for NT-proBNP, LAC, WBC, GLU, myocardial enzymes and PCT. Multivariate adjusted odds ratios and 95% confidence intervals were calculated using unconditional logistic regression. NT-proBNP (OR=30.67, 95%CI: 3.64-258.68), LAC (OR=5.22, 95%CI: 1.22-22.33), WBC (OR=10.04, 95%CI: 2.12-47.53), and GLU (OR=10.56, 95%CI: 1.88-59.27) were associated with increased mortality risk for HFMD. The prognostic risk model based on the results of the preliminary study showed NT-proBNP＞10 ng·mL-1, NT-proBNP 1.3-10 ng·mL-1, LAC＞3.2 mmol·L-1, white blood cell＞16.5×109·L-1, blood glucose＞7.8 mmol·L-1. According to the raw data given grades were 3.42, 1.98, 2.36, 2.31, 1.65 respectively,and they were simplified as 3, 2, 2, 2, 2 respectively in the established model. Both of the raw data risk model and simplified risk model achieved the high area under ROC of 0.99, simplified risk model showed the sensitivity and specificity were 100% and 95.6% respectivelty.Conclusion The simplified risk model consisting of four laboratory index was valuable for predicting the prognosis of severe HFMD, the patients with rating scores≥4 should be paid much more attention to.
Objective To investigate the prevalence of influenza B virus epidemic in children with influenza-like illness (ILL) in Beijing.Methods Throat swabs were collected from children with ILL who visited the Children′s Hospital affiliated to Capital Institute of Pediatrics from September 2006 to May 2014. All of the clinical specimens were inoculated into MDCK cells to isolate influenza viruses and parainfluenza viruses followed by identifying different types of influenza viruses with reference antiserum by hemagglutination-inhibition assay. HEp-2 cells were used to isolate human respiratory syncytial virus and adenovirus simultaneously.Results Out of 6 150 throat swabs collected, 345 (5.6%) were positive for influenza B virus, of them 166 (48.1%) belonged to B/Victoria-like (B/V) lineage and 179 (51.9%) were part of B/Yamagata-like (B/Y) lineage. Throughout the eight consecutive influenza seasons, 2 lineages of influenza B co-circulating were found out in 5 seasons. Except 2006-2007 season, influenza B virus predominated every other year in the rest of seven seasons (2007-2008, 2009-2010, 2011-2012 and 2013-2014 seasons), with the highest positive rates of 46.2% in Jan. 2008 and Feb. 2012. B/V or B/Y lineage circulated with a trend of B/Y-B/Y-B/V-B/V-B/Y-B/V-B/V-B/Y, however, matching between the lineages of the influenza B strains within vaccines used and circulating lineages was achieved only in 3 influenza seasons (2009-2010, 2011-2012 and 2013-2014). Most of the activity of influenza B occurred in winter and next spring. Only a few influenza B virus strains could be isolated in non-influenza season. The epidemic peak of influenza B appeared after that of influenza A when the positive rate of influenza A was higher than that of influenza B in 2006-2007, 2009-2010 and 2010-2011, while the epidemic peak of influenza B appeared before that of influenza A when the positive rate of influenza B was higher than that of influenza A in 2007-2008 and 2011-2012. The positive rate of influenza B increased with age in children younger than 12 years old. Co-infection of influenza B with other common respiratory viruses was very rare.Conclusion Influenza B viruses predominated in children every 2 years from September 2006 to May 2014 in Beijing. Cocirculation of B/V or B/Y lineages was found in 4 of 8 consecutive seasons which were predominated by one of lineages.
Objective To detect the copy number variation (CNV) with gene chip , and to explore the pathogenic role of partial deletions of the azoospermia factor C region on Y chromosome in a boy with intellectual disability and micropenis.Methods With the extracted DNA, CytoOneArray Chromosome chip was performed to preliminarily screen the copy number variation (CNV) of a boy with intellectual disability and micropenis.Then 4×180K SNP+CNV chip was used to detect the CNV. Polymerase chain reaction was used to detect the pathogenic role of partial deletions in the AZFc region in 11 normal boys, 9 boys were with intellectual disability but no micropenis, in a boy with intellectual disability and micropenis and his father, with the sY1191and sY1291 as the primer. PCR amplification was used in 179 boys with intellectual disability but no micropenis to analyze the frequency of AZFc deletion.Results For the boy with intellectual disability and micropenis, complete gene AZFc deletion （chrY:24646690-28103711）was found using CytoOneArray Chromosome chip. Excluding other mental development related CNV, 4×180K SNP+CNV chip was used and AZFc partial deletions(chrY:24873066-25203027; chrY:25850255-26245019) were detected, while b2/b3 deletion was found with polymerase chain reaction. The b2/b3 deletion was also found in a normal boy and the boy with intellectual disability but no micropenis. ④ The frequency of AZFc deletion in 170 boys with intellectual disability but no micropenis was 15.1%(27/179).Conclusion Only b2/b3 deletion may be not pathogenic for the boy with intellectual disability and micropenis, just as the polymorphism in Chinese population.
Objective To investigate nonsurgical alternatives for mild obstructive sleep apnea syndrome (OSAS) primarily consisting of anti-inflammatory therapy effect on the clinical symptoms, quality of life and attention deficiency.Methods Consecutive snoring children aged 5-7 years with normal weight were recruited from Shanghai Children′s Medical Center, who fulfilled mild OSAS criteria ［apnea hypopnea index（AHI）1-5 No·h-1］ and received 16 weeks nasal steroid spray and leukotriene receptor modifiers （montelukast）therapy. The outcomes were compared including tonsil and adnoid scoring, sleep structure and arousal parameters by polysomnography (PSG), full attention quotient and full response control quotient by IVA-CPT test, urine cysteine leukotriene (CysLTs) concentration,and quality of life before and after the therapy.Results A total of 66 children with mild OSAS including 36 boys (54.5%) were recruited, aged (5.5±0.8) years. ① Tonsil and adnoid scoring decreased after the anti-inflammatory therapy ［Tonsil:(2.0±0.5) vs（2.4±0.6），Adnoid:(1.5±0.7) vs（2.2±0.6）;P<0.05］. ② After the anti-inflammatory therapy, there was significant difference in the PSG parameters including REM(%), AHI, total arousal index, respiratory related arousal index, sleep pressure score(SPS) and nadir SpO2 (P<0.05). Of them, 27 cases (41%) had normal PSG result after the therapy. ③The full attention quotient, full response control quotient and OSA-18 were improved ［full attention quotient：(111.5±4.8) vs (106.0±9.5)，full response control quotient：(103.1±7.1) vs (98.7±7.0)；OSA-18：(33.2±5.7) vs (44.7±8.1)；P<0.05］; ④The urine CysLTs(pg·mL-1)/Cr(mg·dL-1) ratio was decreased after the treatment, (7.7±1.1) vs (8.6±0.5), P =0.039.Conclusion Nasal steroid spray and leukotriene receptor modifiers can improve the clinical symptoms, intermittent hypoxia, sleep fragmentation and the attention deficiency in children with mild OSAS.
Objective To analyze the epidemiological and biological characteristics of hand-foot-mouth disease (HFMD) in Chongqing in 2014.Methods A descriptive analysis of HFMD outpatients reported by infectious cards and HFMD inpatients from Children＇s Hospital of Chongqing Medical University was conducted to describe its epidemiological characteristics in 2014. Stool samples collected from HFMD inpatients were sequenced after RT-PCR to detect and analyze the phylogenetic trees. Results A total of 19 207 HFMD cases were recruited into the study with the ratio of male to female of 1.5:1 and with the median age of 2.1 years ranging from 1 d to 17 years old. The majority of the cases (97.9%) lived scatteredly and were preschool aged. The cases younger than 5 years accounted for 94.2%. There were two distinct peaks of HFMD in the whole year with the first peak from April to July and the second peak from September to December, accounting for 36.9% and 52.8%, respectively. Totally 364 HFMD inpatients with the positive pathogenic detection were enrolled into the pathogenic and molecular epidemiological analysis. Of them, 239 cases were severe with EV71 infection accounting for 64.4%, including 195 cases (53.6%) with only EV71 infection, 18 cases (4.9%) with only CA16 infection, 23 cases (6.3%) with only CA6 infection, 6 cases (1.6%) with only CA10 infection, 45 cases (12.4%) with mixed infection and 77 cases (21.1%) with other enteric viruses infection. There was high detection rate of EV71 from January to June and high detection rate of CA6 from September to December. Mixed infection with EV71 and CA6 accounted for 9.3%. Viral sequence analysis showed that EV71 isolated from Chongqing district in 2014 belonged to C4a subtype and CA16 belonged to B1b subtype. CA6 had high homology with the strains isolated from the patients in Japan and Spain, and CA10 had high homology with the strains isolated from the patients in China.Conclusion There were two distinct peaks of HFMD in the whole year in Chongqing in 2014. The majority of cases were sporadic kindergarten children. The epidemic strains were EV71 C4a and CA16 B1b subtypes.
Objective To explore the clinical features, diagnosis and treatment of non-convulsive status epilepticus (NCSE) in children with severe viral encephalitis.Methods The clinical manifestations, video electroencephalographic (VEEG) features, anti-epilepsy treatment and prognosis of NCSE in children with severe viral encephalitis in the child neurological inpatient setting of Guangzhou Women and Children′s Medical Center between June 2012 and September 2014 were retrospectively analyzed. Results Nine patients including 5 boys were identified. The age onset of encephalitis was (7.2±3.9) years. The Glasgow scores of 9 patients were (8.6±1.9) points. The average interval between the onset of encephalitis and NCSE ranged from 4 to 70 (19.4±20.9) days. NCSE types included status epilepticus in coma (SEC) (n=4), complex partial status epilepticus (n=4), and atypical absence status epilepticus (n=1). Eight children were with severe viral encephalitis and 1 child with severe viral encephalitis in changing antiepileptic drug regimen. The preceding seizures in all children and convulsive status epilepticus in 3 patients were found. A variety of clinical manifestations, including limb or mouth and face tiny tic, eye blinking or nystagmus, cognitive impairment, autistic-like behavior, mutism with eye open and automatism were observed. The characteristics of ictal VEEG generally included slow activity of background; focal, multi-focal, or generalized δ, θ , β，spike rhythmic activity, or continuous spike and wave discharges; with the evolution of frequency, amplitude, and distribution; frequently of frontal or occipital lobe origin. The patients diagnosed as SEC were treated with general anesthesia (midazolam) plus multiple antiepileptic drug (AEDs) with average duration of attack of 42.8 days, whereas others with non-SEC were provided with multiple AEDs with average duration of attack of 9 days in 3 cases and 4 months in 1 case with changing AEDs regimen respectively. Among 9 patients, 1 failed to be followed up, 1 died, and 7 were followed up for 3 months to 2.5 years. Six patients had different degree abnormalities of ictal or interictal VEEG, though 1 case with normal VEEG outcome. One patient had normal neurological function, whereas other 6 patients had symptomatic epilepsy with different degree abnormalities of cognition in 5 patients and persistent vegetative state in one patient respectively.Conclusion Clinical manifestations of NCSE in children with severe viral encephalitis may present with mouth, face and limb movement phenomena, cognitive and behavioral changes. The morphologies of ictal VEEG are various, in which the spike rhythmic activity may serve as a unique pattern. The measures of treatment and effective time are associated with NCSE types.
Objective To investigate the clinical characteristics, treatment and outcome of disseminated cryptococcosis in nonhuman immunodeficiency virus-infected children. Methods Retrospective study was performed to review the charts of 8 nonhuman immunodeficiency virus-infected children diagnosed as disseminated cryptococcosis in a tertiary care teaching hospital from May 2009 to November 2013.Results Eight children with the average age of 6.1 years were recruited in the study, including 5 boys and 3 girls. Two children receiving corticosteroids were immunocompromised, other 6 children were immunocompetent. All had fever, 7/8 cases had hepatosplenomegaly, 4 cases had jaundice, 2 cases had cough, and skin lesions were initial and remarkable clinical features of the 2 immunocompromised children. None had symptoms of central nervous system (CNS) involvement. All had high titers of serum cryptococcal antigen with latex agglutination test at initial of admission, which was 1:640 or higher, 6 cases had positive blood culture of Cryptococcus neoformans. Four cases were identified as CNS involved by cerebrospinal fluid examination. Five cases (62.5%) had notably increased eosinophil counts in peripheral blood, the serum levels of IgE were also elevated at the beginning of admission for all the patients. Three of 8 cases revealed a dilated intrahepatic bile duct by imaging examination, and 7 cases were identified pulmonary involved by chest CT scan. Inductive therapy with combination of amphotericin B (AmB) or lipid formulation of AmB (LFAmB) plus flucytosine or fluconazole was given. One case occurred immune reconstitution inflammatory syndrome after steroid withdrawal. All responded well to systemic antifungal therapy, both eosinophil counts and elevated serum IgE levels decreased after induction therapy. All children were followed up at outpatient clinic to continue consolidation and maintenance therapy with fluconazole. After cessation of therapy, none relapsed.Conclusion The clinical manifestations of disseminated cryptococcsis in nonhuman immunodeficiency virus-infected pediatric patients are often nonspecific and variable. Reticuloendothelial system and lung are the most common sites of infection in the patients, followed by central nervous system, biliary tract, and skin. Elevated eosinophil counts of the peripheral blood and IgE levels are notable characteristics of the laboratory results.
Objective To explore the clinical manifestations and electroencephalogram (EEG) features, causes and the effect of ketogenic diet (KD) for children diagnosed as pharmacoresistant late-onset epileptic spasms (LOES).Methods The clinical and EEG characteristics and the effect of antiepileptic drugs (AEDs) in 18 children with LOES were analyzed retrospectively. The effectiveness of one week, one month and three months after KD therapy for 8 children with pharmacoresistant LOES was evaluated. Results Eighteen children including 13 boys and 5 girls aged from 2 to 10 years with the median age of 6 years and 6 months were included. The onset age of epileptic seizures ranged from 1 year to 8 years with the median age of 3 years. The course of epilepsy ranged from 1 to 72 months with the median age of 9 months. The first seizure type was epileptic spasms in 4 cases and other seizure types in 14 children (77.8%). Interictal EEG showed classic hypsarrhythmia in 4 cases and no hypsarrhythmia in 14 cases (77.8%) of which multifocal discharges could be dentified obviously in temporofrontal regions. Developmental delay presented in all cases and 7 cases (44.4%) were symptomatic epilepsies, of which the commonest causes were central nervous system infection and perinatal insults, while 11 cases (61.1%) had unknown causes. Four patients fulfilled the entry criteria of late-onset West syndrome and 4 patients were diagnosed as Lennox-Gastaut syndrome. Eighteen patients were followed up for 3 to 24 months during AEDs treatment and the majority of the children were on valproate in monotherapy (n=2) or in combination with other AEDs (n=16) at the last follow up. Fourteen patients (77.8%) were diagnosed with pharmacoresistant epilepsy and 8 cases of them received KD therapy. Greater than 50% seizure reduction was achieved in 2 of 8 cases at one week, 3 of 8 cases at 1 month and 5 cases (62.5%) at 3 months after KD therapy. Seizure free was achieved in 1 of 8 case at one month and 3 cases (37.5%) at 3 months after KD therapy. Eight patients treated with KD was well tolerated and adverse effects were not found.Conclusion Children with LOES not only occur in West syndrome, but also in other epileptic encephalopathy. Interictal EEG does not show classic hypsarrhythmia in most patients generally. Most LOES are refractory epilepsy and the KD is a safe and potentially effective method of treatment for children with LEOS.
Objective To identify the underlying genetic causes with multiple molecular genetic techniques in a female patient with neuro-developmental delay and autism, who has ever been diagnosed as 21/22 trisomy with conventional karyotype analysis.Methods The peripheral blood was collected from the patient and her parents. Genomic DNA was extracted by phenol-chloroform method. The high-resolution karyotype analysis (400-550 bands) was performed to check the chromosome′s number and structure, and the array comparative genomic hybridization (array-CGH) was used to detect the whole genomic copy number variation.The fluorescent in situ hybridization was employed to localize and quantify the abnormal genomic copy numbers.Results A 2-year-old girl suffered from neuro-developmental delay and autism with downslanting of the palpebral fissures and epicanthic folds. The result of conventional karyotype analysis (320 bands) was 47,XX,+22 or 47,XX,+21.The high-resolution karyotype analysis (400-550 bands) detected a supernumerary marker chromosome(SMC) and her karyotype was 47,XX,+mar dn, which had ever been misdiagnosed as 21/22 trisomy.Her parents′ karyotype was 46,XY and 46,XX, respectively. The SMC was de novo. About 8.0 Mb duplication in the 15q11.2-13.2 region (chr15:22684529-30730543, 8.0 Mb,hg19) was found in the patient by array-CGH. FISH confirmed that the SMC was originated from chromosome 15, and consisted of two copies of the centromerics and 15q11.2-13.2 interval. The 15q11.2-13.2 tetraploid microduplication syndrome or Idic(15) syndrome was established after all. A literature review of the clinical phenotypes of the 15q11.2-13.2 microduplication was performed, which showed that intellectual disability/ developmental retardation, hypotpnia, autism/autism-like symptoms and epilepsy were the key clinical phenotypes in the Idic(15) syndrome.Conclusion The de novo tetrasomy 15q11.2-13.2 is a genetic basis for neuro-developmental delay and autism in this case. The array-CGH can detect genomic micro-imbalance quickly and precisely.
Objective To investigate the effects of ubiquitin-specific processing protease 2-69 (USP2-69) on regulating the expression and ubiquitous degradation of decorin (DCN) in mesangial cells (MC). Methods Western blot was used to examine the protein expression of USP2-69 in rat MC. Co-IP, confocal and immunofluorescence were used to analyze the interaction between USP2-69 and DCN, and their location in MC. After pRK5-USP2-69-HA eukaryon expression plasmid was transfected into MC, Western blot was used to examine protein expression of HA, USP2-69 and DCN. Co-IP was used to analyze the ubiquitination of DCN. After USP2-69 was knocked down by USP2-69 RNA interference, PCR was used to analyze the mRNA expression of USP2-69 and DCN, time-course Western blot was used to analyze the half-life of DCN and Western blot was used to examine the protein levels of TGF-β1 and Col Ⅳ, two downstream effectors of DCN.Results ① USP2-69 was expressed in MC, BRL-3A and GEC, the basal protein expression was higher in MC than in hepatocytes and podocytes ［MCs：(0.27±0.05) vs BRL-3A：(0.035±0.009), GEC：(0.012±0.004)，P<0.01］. ② After the total protein of MC was immunoprecipitated by anti-DCN antibody, USP2-69 could be detected. Conversely, DCN could be detected after the total protein of MC was immunoprecipitated by anti-USP2-69 antibody. Moreover, there was a co-localization between fluorescence of USP2-69 and DCN in cytoplasm of MC. ③ Protein expressions of HA which represented extrinsic USP2-69, elevated protein level of USP2-69 and DCN, and an obvious decrease of ubiquitinated DCN was detected in MCs transfected with pRK5-USP2-69-HA plasmid. ④ RNA interference of USP2-69 in MC didn′t change the mRNA level of DCN, but markedly shortened the half-life of DCN from 6 h to 3 h and increased the protein expression of TGF-β1 and Col Ⅳ.ConclusionIn cultured rat MC, a physical interaction and a co-localization in cytoplasm existed between USP2-69 and DCN. USP2-69 could decrease the ubiquitinated form of DCN and increase its protein expression and biological function.
