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Lu Y.,Capital Institute of Pediatrics Affiliated Childrens Hospital | Gu Q.,Email gql71@163.com | Pang C.,Email gql71@163.com | Gao F.,Email gql71@163.com | And 4 more authors.
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery

OBJECTIVE: The aim of this study was to understand the effect of different treatment of obstructive sleep apnea-hypopnea syndrome (OSAHS) for refractory asthma in children.METHODS: Fifty two children (32 in surgical group, 20 in conservative group) with refractory asthma and OSAHS were included in the study. All children received asthma condition assessment and polysomnography (PSG) examination before and after treatment, and were followed up for 6 months.RESULTS: All children got improved in PSG values 3 months after treatment, more significant improvement was achieved in surgical group than in conservative group (P < 0.05). While compared of OSAHS treatment, there were 2 cure, 6 notable effective, 9 effective, 3 in vain cases in conservative group, 8 cure, 16 notable effective, 8 effective, 0 in vain cases in surgery group. There was significant difference between the two groups (χ² = 8.91, P = 0.031). All children got improved in asthma condition evaluation parameters and decreased the use number of short acting β2 agonists after 6 months treatment. More significant improvement was achieved in surgical group than in conservative group. The differences of all the items had statistical significance (P < 0.05). There was statistical correlation between days mutation rate of peak expiratory flow (PEF) and apnea hypopnea index (r = 0.712, P < 0.01), and between days mutation rate of PEF and lowest oxygen saturation (r = 0.726, P < 0.01).CONCLUSIONS: Active treatment of OSAHS can improve asthma symptoms and reduce asthma medication effectively. The curative effect of surgical treatment is superior to conservative treatment. Source

Zhang Z.,Capital Institute of Pediatrics | Jiang Q.,Capital Institute of Pediatrics | Li Q.,Capital Institute of Pediatrics | Cheng W.,Beijing United Family Hospital | And 7 more authors.
International Journal of Clinical and Experimental Pathology

Background: Genetic mosaicism has been reported for both coding and non-coding sequences in the RET gene in Hirschsprung disease (HSCR) patients. This study aimed to investigate somatic mutation rate in Chinese population by comparing both homozygous genotype percentage and risk allele frequency of 3 RET single nucleotide polymorphisms (SNPs) among blood and colon samples. Methods: DNA was extracted from 59 HSCR blood samples, 59 control blood samples and 76 fresh frozen colon tissue samples (grouped into ganglionic, transitional and aganglionic level). Genotype status of rs2435357 and rs2506030 was examined by competitive allele specific hydrolysis probes (Taqman) PCR technology, and rs2506004 was examined by Sanger sequencing. Homozygous genotype percentage and risk allele frequency were calculated for each type of sample and compared by chi-square test. P<0.05 was regarded as being statistically significant. Results: Colon tissue DNA samples showed similar frequency of SNPs as that of the blood DNA samples in HSCR patients, both of which are significantly higher than the control blood group (rs2435357 TT genotype: 71.2%, 74.7% versus 22.0% in HSCR blood, HSCR colon and control blood DNA respectively, P=0.000; rs2506004 AA genotype: 72.4%, 83.1% versus 25.5%, P=0.000; rs2506030 GG genotype: 79.7%, 77.2% versus 54.2%, P=0.000 and 0.004). With respect to DNA extracted from ganglionic, transitional and aganglionic levels, no statistically significant difference was demonstrated in those 3 regions (rs2435357: P=0.897; rs2506004: P=0.740; rs2506030: P=0.901). Conclusion: Our data does not support the notion that high frequency of somatic changes as an underlying etiology of Chinese HSCR population. Source

Wu Y.,Peking University | Ji T.,Peking University | Wang J.,Peking University | Xiao J.,Capital Medical University | And 16 more authors.
BMC Medical Genetics

Background: Subtelomeric imbalance is widely accepted as related to developmental delay/mental retardation (DD/MR). Fine mapping of aberrations in gene-enriched subtelomeric regions provides essential clues for localizing critical regions, and provides a strategy for identifying new candidate genes. To date, no large-scale study has been conducted on subtelomeric aberrations in DD/MR patients in mainland China.Methods: This study included 451 Chinese children with moderate to severe clinically unexplained DD/MR. The subtelomere-MLPA (multiplex ligation dependent probe amplification) and Affymetrix human SNP array 6.0 were used to determine the subtelomeric copy number variations. The exact size and the breakpoint of each identified aberration were well defined.Results: The submicroscopic subtelomeric aberrations were identified in 23 patients, with a detection rate of 5.1%. 16 patients had simple deletions, 2 had simple duplications and 5 with both deletions and duplications. The deletions involved 14 different subtelomeric regions (1p, 2p, 4p, 6p, 7p, 7q, 8p, 9p, 10p, 11q, 14q, 15q, 16p and 22q), and duplications involved 7 subtelomeric regions (3q, 4p, 6q, 7p, 8p, 12p and 22q). Of all the subtelomeric aberrations found in Chinese subjects, the most common was 4p16.3 deletion. The sizes of the deletions varied from 0.6 Mb to 12 Mb, with 5-143 genes inside. Duplicated regions were 0.26 Mb to 11 Mb, with 6-202 genes inside. In this study, four deleted subtelomeric regions and one duplicated region were smaller than any other previously reported, specifically the deletions in 11q25, 8p23.3, 7q36.3, 14q32.33, and the duplication in 22q13. Candidate genes inside each region were proposed.Conclusions: Submicroscopic subtelomeric aberrations were detected in 5.1% of Chinese children with clinically unexplained DD/MR. Four deleted subtelomeric regions and one duplicated region found in this study were smaller than any previously reported, which will be helpful for further defining the candidate dosage sensitive gene associated with DD/MR. © 2010 Wu et al; licensee BioMed Central Ltd. Source

Gao F.,Capital Institute of Pediatrics Affiliated Childrens Hospital | Gu Q.-L.,Capital Institute of Pediatrics Affiliated Childrens Hospital | Jiang Z.-D.,Peking Union Medical College
National Medical Journal of China

Objective: To analyze the characteristics of sleep structure, heart rate and arousal index (ArI) in children with primary snoring (PS) and mild, moderate or severe obstructive sleep apnea hypopnea syndrome (OSAHS). Methods: A total of 113 children with sleep disorders were enrolled from January 2010 to March 2012 at Affiliated Children's Hospital, Capital Institute of Pediatrics. All of them underwent polysomnogram (PSG) and the data were analyzed statistically by SPSS 19.0. Results: (1) No statistical difference existed in age, sleeping time or sleeping efficacy between PS and all OSAHS groups (all P>0.05). (2) The proportion of stage I sleeping was 2.6%±1.4% in PS group, 5.4%±3.2% in mild OSAHS group, 4.7%±1.9% in moderate OSAHS group and 8.9%±4.0% in severe OSAHS group (F=6.542, P=0.000). The proportion of stage IV sleeping was 25.3%±5.6% in PS group, 32.4%±11.1% in mild OSAHS group, 30.6%±9.0% in moderate OSAHS group and 21.4%±10.8% in severe OSAHS group (F=7.544, P=0.000). The proportion of stage rapid eye movement (REM) sleeping was 21.1%±8.6% in PS group, 13.9%±4.0% in mild OSAHS group, 14.5%±4.9% in moderate OSAHS group and 12.3%±6.9% in severe OSAHS group (F=11.204, P=0.000). The proportion of stage II and III sleeping had no statistical difference among four groups. (3) The average heart rale in stage REM sleeping of four groups was (85±11), (90±14), (95±10) and (101±18) beats per minute (F=6.452, P=0.000) and (79±10), (84±14), (86±7) and (93±16) beats per minute in stage NREM sleeping (F=5.369, P=0.002). (4) In four groups, the difference of total count of spontaneous arousal, the spontaneous arousal count in stage REM and non-rapid eye movement (NREM) sleeping were all statistically significant (F=56.379, 60.781, 44.061, all P=0.000). And the difference of total count of respiratory arousal, the median of respiratory arousal count in stage REM and NREM sleeping were all statistically significant (F=79.250, 36.137, 65.239, all P=0.000). Conclusions: Heart rate is affected more obviously in moderate-severe OSAHS children. As compared with PS counterparts, OSAHS children had a reduction of spontaneous arousal and an increase of respiratory arousal. But the occurrence of spontaneous arousal of OSAHS children does not decrease with the progress of OSAHS in either stage REM or stage NREM. Copyright © 2013 by the Chinese Medical Association. Source

Li Q.,Capital Institute of Pediatrics | Zhang Z.,Capital Institute of Pediatrics | Yan Y.,Capital Institute of Pediatrics Affiliated Childrens Hospital | Xiao P.,Capital Institute of Pediatrics Affiliated Childrens Hospital | And 9 more authors.
Molecular Cytogenetics

Background: Trichorhinophalangeal syndrome type II (TRPS II, OMIM # 150230) is a rare autosomal dominant genetic disorder characterized by craniofacial and skeletal abnormalities. Loss of functional copies of the TRPS1 gene at 8q23.3 and the EXT1 gene at 8q24.11 are considered to be responsible for the syndrome. Case Presentation: Herewith, we report an 8-year-old girl with sparse scalp hair, bulbous nose, thin upper lip, broad eyebrows, phalangeal abnormalities of both hands/toes, multiple exostoses, mild intellectual impairment and severe malnutrition. In addition, the patient also had annular pancreas, a rare co-existing feature in patients with TRPS II. Conclusions: A contiguous 5.47 Mb deletion involving 8q23.3-q24.12 was detected by array comparative genomic hybridization (aCGH), leading to haploinsufficiency of 10 protein coding genes, 1 long non-coding RNA and 1 microRNA. Quantitative PCR (qPCR) examination confirmed half-reduced DNA copy of the patient and normal expression of both parents, indicating a de novo origin of the deletion and complete penetrance of the mutation. © 2015 Li et al. Source

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