Genome-wide copy number microarray analysis for a boy with autism / 中华医学遗传学杂志

OBJECTIVE@#To carry out genome-wide copy number variations (CNVs) analysis for a boy with autism by using single nucleotide polymorphism array (SNP array).@*METHODS@#SNP array analysis was conducted for the boy and his parents, and the data was validated by real-time PCR. Correlation between the deleted genes and the phenotype was analyzed by reviewing the literature.@*RESULTS@#The patient was found to carry a terminal deletion of 18q22.3q23 (7.1 Mb), which involved FBXO15, ZNF407, ZADH2, TSHZ1, MBP and ADNP2 genes. No pathogenic CNVs were found in the parents. Comparison of the patient with cases reported in the literature suggested that the ZNF407 gene probably accounts for the autistic phenotype in these patients.@*CONCLUSION@#The autistic phenotype of the patient may be attributed to the 18q deletion, for which ZNF407 may be a critical candidate. SNP array has provided an useful tool for the study of molecular mechanism underlying autism.

Clinical features and genetic analysis of a case with Coffin-Siris syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the clinical features and genomic abnormality of a patient with Coffin-Siris syndrome.</p><p><b>METHODS</b>Microdeletion and microduplication were detected with chromosomal microarray analysis (CMA) and verified with real-time quantitative PCR.</p><p><b>RESULTS</b>The patient, a 6-month-old boy, featured global development delay, thick eyebrows, low frontal hairline, long eyelash, flat nasal bridge, hypotonia, difficulty in turning over, over stretching of head, and hypoplatic nails. He could not stand stability or actively grasp. He also has characteristics of rickets. Chromosome karyotype of the patient was normal. Genomic analysis has detected a 1.3 Mb deletion in 6q25.3 region encompassing the ARID1B gene. Neither of his parents was found to harbor the same deletion.</p><p><b>CONCLUSION</b>The 6q25.3 microdeletion probably underlies the Coffin-Siris syndrome in this patient, and rickets may be part of its clinical spectrum.</p>

Clinical features and genetic analysis of Currarino syndrome / 中华实用儿科临床杂志

Objective To investigate the clinical manifestations and motor neuron and pancreas homeobox 1 (MNX1) gene mutation features of Currarino syndrome.Methods Microdeletion and microduplication of the patients were detected by chromosomal microarray analysis (CMA),and literature review was performed for the clinical syndrome of Currarino syndrome with similar genotype.Results Two patients with Currarino syndrome were recruited in this study.Patient 1,a 7-day girl,came to hospital because of recurrent vomiting.Physical examinations showed coarse facial features,vision problems,serious abdominal flatulence and anal stenosis.Bowel imaging revealed malrotation of the midgut;and the magnetic resonance imaging (MRI) showed tethered spinal cord and malformation of sacrococcygeal vertebra.A 7.89 Mb deletion in chromosome 7 q36.lq36.3 region including MNX1 gene and a 2.20 Mb duplication in 14q32.33 area was found by using CMA.Patient 2,a 1 year and 3 months girl,came to hospital with global development delay.Clinical examination showed facial dysmorphic,growth retardation,intellectural disability,ptosis in right eye and anal stenosis.This patient had developmental retardation in language and movement.MRI showed spina bifida occulta.And a 15.00 Mb deletion in chromosome 7 q35q36.3 region was found including MNX1 gene.Literature review revealed that deletions in MNX1 gene led to Currarino syndrome with coarse facial features,growth retardation and intellectural disability,and this type of Currarino syndrome had not been reported in China.Conclusions Two cases of Currarino syndrome caused by microdeletion in 7q36 are reported for the first time in China,and this study can help clinicians to have a better understanding of this disease.

Association of ring-finger protein 3 (MKRN3) gene rs2239669 polymorphism with central precocious puberty susceptibility / 临床儿科杂志

Objectives To explore the association between the single nucleotide polymorphism (SNP) rs2239669 in makorin ring-finger protein 3 (MKRN3) gene and the susceptibility to central precocious puberty (CPP). Methods A case-control study including 246 children with CPP and 269 healthy children was performed.The genotype and MKRN3 expression levels of patients were analyzed by PCR-HRM and RT-PCR,respectively. Results SNP rs2239669 genotype (TT,TC,CC) and allele frequencies (T and C) were different between cases and controls,with higher CC genotype in CPP patients. Under recessive model (CC/TT+TC),CC genotype was higher in CPP group and associated with higher risk of CPP (95%CI:1.062-2.143,P=0.021). MKRN3 expression levels were different among patients with different genotypes,of which TT genotype had the highest level followed by TC and CC (0.376±0.094, 0.330±0.068, 0.250±0.072, P=0.041). Conclusions MKRN3 SNP rs2239669 was associated with increased risk of CPP, and patients with TT genotype had higher MKRN3 levels.

Study on cognitive of newborns′pain in medical staff of department of neonatal intensive care unit and influencing factors / 中国实用护理杂志

Objective To learn the cognitive status for newborns medical pain in medical workers of neonatal intensive care unit of children′s hospitals and provide clinical basis for optimizing neonatal pain management. Methods Totally 320 medical staff in neonatal intensive care units of six children′s hospital in Wuhan, Shenzhen, Shanghai, Nanjing, Zhejiang, Chongqing were investigated using medical pain management survey questionnaires by means of convenience sampling method. Results The knowledge on neonatal pain were at quite high level, accuracy rate was (80.5 ± 18.1)%;but on pain feel, pain relief rate and anodyne-use, the accuracy rate was relatively low; chest drainage, lumbar puncture and PICC placement were generally considered to cause severe pain with scores of 8.03±2.20, 7.17±2.17, 7.09 ± 2.00, respectively. Medical staff with different degrees, having children or not, different titles and with different years of working at NICU had impact on neonatal pain assessment on heel prick and venipuncture among full-term newborns. The difference was statistically significant (χ2=6.208-23.314, P<0.05). Conclusions Neonatal pain management is gradually emphasized by clinical medical staff, but there exist a certain bias on the perception and assessment of pain. So, it needs to strengthen pain-related knowledge training on health care for newborns to prevent and reduce neonatal pain, improving neonatal pain management.

Methylmalonic acidemia：3 cases report and literature review / 临床儿科杂志

Objective To analyze the clinical features and gene mutation in mthylmalonic acidemia (MMA) accompanied by homocysteinemia (cblC), and review the relevant literatures. Methods The clinical features of 3 cases of MMA diagnosed by gene detection were retrospectively analyzed, and meanwhile the pertinent literatures of pathogenesis of MMA, especially combined with late-onset cblC and its gene detection, were reviewed. Results Patient 1 (26 days old) suffered from intermittent convulsions for 3 days, with isosuccinic acid 175.8 μmol/L, C3/C2 rate 1.363, homocysteine >?65 μmol/L and abnormal EEG. MMACHC gene detection found an exon deficiency (delEXON1), which has not been reported. Patient 2 ( 12 year old) was hospitalized for limb shaking, hyperspasmia and vomiting. His isosuccinic acid level was 334.3 μmol/L, C3/?C2 rate was 0.37, homocysteine >?65 μmol/L, and had abnormal EEG. MMACHC gene detection found the mutations of c.482G?>?A and c.609G?>?A. Patient 3 was hospitalized for intermittent convulsions for 20 days, whose isosuccinic acid, C3/?C2 rate, and homocysteine were increased. MMACHC gene detection found the mutations of c.394C?>?T and c.540del8 and c.540del8 had not been reported. Review of literatures discovered that MMA was combined with epileptic seizure in some patents, which further validate that the mutation in MMACHC gene c.482G?>?A may be related to the late-onset of cblC. Conclusions Gene detection contributes to the diagnosis of MMA; the mutation of MMACHC gene c.482G>A may be related to the late-onset of cblC; delEXON1 and c.540del8 are new mutations which have not been reported.

Efficiency and safety of Aripiprazole in the treatment of children with Tourette's syndrome:a Meta-analysis / 中华实用儿科临床杂志

Objective To compare the efficiency and safety between Aripiprazole and other traditional drugs for Tourette's syndrome treatment.Methods Databases such as China National Knowledge Infrastructure,Wanfang,VIP,China Biology Medicine Disc,PubMed and Web of Science were electronically searched for studies on Aripiprazole for Tourette's syndrome treatment.According to the inclusion and exclusion criteria,studies,extracted data,and assessed quality were screened.Meta-analysis was performed by using Stata 11.0 software.Results Four studies about Aripiprazole for Tourette's syndrome treatment with 396 patients (Aripiprazole group:201 cases;control group:195 cases) were synthetically and quantitatively analyzed.Meta-analysis results showed that Aripiprazole was better than other traditional agents (placebo,Tiapride,Haloperidol) [standardized mean difference (SMD) =0.21,95％ CI:0.10-0.32].The subgroup by time of treatment analysis results indicated that Aripiprazole was superior to other drugs in 2 weeks (SMD =0.28,95％ CI:0.06-0.50).There was no significant difference in the efficacy between Aripiprazole and other drugs for treatment of Tourette's syndrome in 4 weeks and 8 weeks after treatment (SMD =0.16,0.28;95％ CI:-0.05-0.38、-0.20-0.76).The subgroup by matched drugs results suggested that Aripiprazole was better than Tiapride (SMD =0.29,95 ％ CI:0.15-0.43),but was not significantly different from Haloperidol (SMD =-0.03,95％ CI:-0.28-0.22).There was no significant difference in side effects incidence between Aripiprazole and traditional drugs for treatment of Tourette's syndrome (RR =0.83,95 ％ CI:0.36-1.89).Conclusions Compared with the conventional drugs,Aripiprazole has better therapeutic efficacy in the treatment of Tourette's syndrome in children in 2 weeks.Aripiprazole is better than Tiapride,but equal to Haloperidol in the treatment of Tourette's syndrome.The safety of Aripiprazole needs to be further verified.

Hepatitis B virus X protein induces CRT transcription by activating C/EBPα / 中华微生物学和免疫学杂志

Objective To investigate the molecular mechanism of calreticulin ( CRT) transcription induced by HBV and its viral proteins. Methods The human hepatocellular cell line, HepG2, was trans-fected with pHBV1. 3 and eukaryotic expression plasmids of HBV viral proteins, respectively. The expres-sion of CRT was measured after transfection. A reporter plasmid of CRT promoter was constructed to analyze the induction of CRT promoter by pHBV1. 3 and HBV viral proteins. Furthermore, two truncated and one C/EBPα site deficient mutants were constructed to evaluate the regulatory effects of HBx on CRT promoter. Fi-nally, HepG2 cells were transfected with HBx expression plasmids and the cellular localization of C/EBPαwas analyzed. Results In this study, pHBV1. 3 could significantly up-regulate the expression of CRT at mRNA and protein levels as well as enhancing the activity of CRT promoter. Among the seven HBV viral proteins, HBx could enhance the activity of CRT promoter and the expression of CRT at mRNA and protein levels. HBx could not induce the transcription of CRT when the C/EBPα binding site was deleted from the CRT promoter. The expression of HBx could promote the nuclear translocation of C/EBPα. Conclusion HBV and its viral protein HBx could up-regulate the CRT expression at transcriptional level. The transcrip-tional factor C/EBPα played a critical role in HBx-induced transcriptional activation of CRT.

Meta-analysis on risk factors of multidrug resistant tuberculosis in China / 中华流行病学杂志

Objective To synthetically evaluate the risk factors of multidrug resistant tuberculosis (MDR-TB) in China.Methods Chinese databases (CNKI,Wanfang,SinoMed and VIP) and English database(PubMed) were used to collect studies on risk factors for MDR-TB from 1990 to 2013.Meanwhile,relevant studies were manually retrieved.According to the inclusion and exclusion criteria,studies were screened,data were extracted and quality assessed.A Meta-analysis was performed by using Stata 11.0 software.Results Twenty five studies on the risk factors of MDR-TB were synthetically and quantitatively analyzed.The results of Meta-analysis showed that factors as:being Han ethnic group,history of tuberculosis treatment,pulmonary cavity,floating population,TB case contact history,regular medication,living in rural areas,and poor economy were associated with the incidence of MDR-TB,the pooled OR values were 3.12 (95％CI:1.16-8.40),5.27 (95％ CI:3.60-7.72),1.39 (95％ CI:1.03-1.87),1.69 (95％ CI:1.07-2.68),4.34 (95％ CI:1.91-9.86),0.23 (95％ CI:0.16-0.35),1.86 (95％CI:1.59-2.18) and 1.62 (95％ CI:1.34-1.96),respectively.Conclusion Factors as:being Han ethnic group,history of tuberculosis treatment,pulmonary cavity,floating population,TB case contact history,living in rural areas and poor economy were considered to be at risk of MDR-TB while regular medication might be a protective factor to MDR-TB.