To explore the feasibility of applying flash visual evoked potentials (FVEPs) for visual function test newborns and infants and bring out the consultable laboratory values of FVEPs. The technology of FVEP could be used as diagnostic tests for those who failed the screening and the infants who were cared for in the NICU.41 normal neonates (
Partial deletion of the long arm of chromosome 7 is a rare disease and is prone to missing the diagnosis or being misdiagnosed. Here we present a case of a 13-year-old boy that showed symptoms such as growth-retardation, moderate intellectual disability, hypotelorism, microcephaly, epicanthal folds, genu varum and lumbar vertebral cleft, but it did not show serious symptoms like cleft lip, urogenital malformation and hypotonia. He was eventually diagnosed as partial deletion of the long arm of chromosome 7 syndrome through gene analysis. Considering the rare incidence of this disease and more rarely for being hospitalized to endocrine ward due to growth retardation, this case report can provide more information for clinic diagnosis and differential diagnosis for growth retardation.7号染色体长臂部分缺失在临床上十分罕见，容易漏诊及误诊。中南大学湘雅二医院收治1名13岁患儿，具有生长发育迟缓、轻度智力异常、指间距缩短、头偏小、内眦赘皮、膝内翻及椎体隐裂等表型，但无唇裂、泌尿生殖道畸形、肌张力低下等严重生理缺陷，临床症状较为轻微，经基因检测确诊为7号染色体长臂部分缺失。该病因生长发育迟缓收入内分泌科较为少见，容易与内分泌科其他疾病混淆，本病例报告可为其临床诊断和与其他生长发育迟缓的疾病的鉴别诊断提供参考。.
To explore the risk indicators of newborn hearing loss.Statistic description was used to analyze the basic characteristics of 41 hearing loss infants screened from 8,262 newborns; one way analysis was used by 1:2 matched case control study to analyze the risk indicators of newborns with hearing loss; chi-square test and multivariate condition Logistic stepwise regression mode were also used to find risk the indicators.By one way analysis, there were 3 high risk indicators associated with newborn hearing loss: family history of hearing loss, craniofacial anomalies, and NICU care history. By analysis of multivariate condition Logistic stepwise regression mode, family history of hearing loss (OR=16.945, 95% CI 1.21-237.369) and craniofacial anomalies (OR=6.703, 95% CI 0.61-73.85) were 2 independent risk factors of newborn hearing loss.Appropriate intervention measure should be done to reduce the high risk indicators that cause newborn hearing loss.
Enterovirus A71 (EV-A71) is a major pathogen that causes the hand, foot, and mouth disease, which could be fatal with neurological complications in children. The underlying mechanism for the severe pathogenicity remains obscure, but impaired or aberrant innate immunity is considered to play a key role in viral pathogenesis. We reported previously that EV-A71 suppressed type I interferon (IFN) responses by inducing degradation of karyopherin-α1 (KPNA1), a component of the p-STAT1/2 complex. In this report, we showed that 2B, a non-structural protein of EV-A71, was critical to the suppression of the IFN-α-induced type I response in infected cells. Among viral proteins, 2B was the only one that was involved in the degradation of KPNA1, which impeded the formation of the p-STAT1/2/KPNA1 complex and blocked the translocation of p-STAT1/2 into the nucleus upon IFN-α stimulation. Degradation of KPNA1 induced by 2B can be inhibited in the cells pre-treated with Z-DEVD-FMK, a caspase-3 inhibitor, or siRNA targeting caspase-3, indicating that 2B-induced degradation of KPNA1 was caspase-3 dependent. The mechanism by which 2B functioned in the dysregulation of the IFN signaling was analyzed and a putative hydrophilic domain (H1) in the N-terminus of 2B was characterized to be critical for the release of cytochrome c into the cytosol for the activation of pro-caspase-3. We generated an EV-A71 infectious clone (rD1), which was deficient of the H1 domain. In rD1-infected cells, degradation of KPNA1 was relieved and the infected cells were more sensitive to IFN-α, leading to decreased viral replication, in comparison to the cells infected with the virus carrying a full length 2B. Our findings demonstrate that EV-A71 2B protein plays an important role in dysregulating JAK-STAT signaling through its involvement in promoting caspase-3 dependent degradation of KPNA1, which represents a novel strategy employed by EV-A71 to evade host antiviral innate immunity.
Objective
To investigate Helicobacter pyloric (Hp) infection in children who underwent gastroscopy in Nanjing area.
Methods
From Jan.2001 to Dec.2010, 2 990 pediatric patients with gastrointestinal symptoms who underwent endoscopy and Hp rapid urease test of gastric mucosa specimens.
Results
There were 2 990 patients who underwent gastroscopy during the 10 years including 1 718 cases of male and 1 272 cases of female.The rate of Hp infection was 53.8%(924/1 718 cases) and 52.4%(667/1 272 cases) in male and female, respectively.There was no significant difference (χ2=0.532, P>0.05). From Jan.2001 to Dec.2005, 611 patients were tested and the rate of Hp infection was 66.9%(409/611 cases). From Jan.2006 to Dec.2010, 2 379 patients were tested and the rate of Hp infection was 49.7%.There was significant difference(χ2=58.13, P=0.01) between the 2 groups.The rate of Hp infection were 49.6%, 48.1%, 55.2%, 60.0% in 0-6 years group, >6-9 years group, >9-12 years group, and>12 years group, respectively.There was significant difference among the 4 different age groups(χ2=23.66, P<0.01). The rate of Hp infection in nodular gastritis(61.4%) was higher than that in chronic superficial gastritis (50.6%). There was significant difference between the 2 groups(χ2=7.42, P<0.01). The rate of Hp infection in allergic purpura (46.2%)was higher compared with the children with normal gastroscopy results(15.9%). There was significant dif-ference between the 2 groups(χ2=10.19, P<0.01).
Conclusions
There is gradually downward trend by year in the rate of Hp infection of children who underwent gastroscopy in Nanjing area by year.The rate of Hp infection is increa-sing with the age after the age of 6 years.Hp infection may play a role in the nodular gastritis and allergic purpura.
Key words:
Gastroscopy; Helicobacter pylori; Child
To analyze the genetic characterization of epidemic rubella virus strains isolated in Liaoning from 2007-2012, a total of 145 rubella virus strains were isolated using Vero/Slam cell line from the patients' throat swabs during rubella outbreaks and sporadics cases in Liaoning Province from 2007 to 2012. Fragments of 945 nucleotides containing 1E gene from 145 rubella virus isolates were amplified by RT-PCR, the PCR products were sequenced and analyzed. Based on the 739 nucleotides of 1E gene, the phylogenetic trees were constructed with 32 WHO rubella reference strains of 13 genotypes downloaded from GenBank and 145 rubella virus strains. The results showed that the 145 rubella virus strains in 2007 -2012 belonged to genotype 1E, nucleotide acids and amino acids similarities were 97.2%-100.0% and 97.6%-100.0%, respectively. Compared to the 1E reference strains(Rvi/ Dezhou.CHN/02, RVi/MYS/01), the nucleotide acids and amino acids similarities were 96.6%-99.2% and 98.2%-100.0%, respectively except for one amino acid change (Val246-Ala246) of RVi/Shenyang. Liaoning. CHN/13.11/13, and Asp262-Asn262 of RVi/Shenyang. Liaoning. CHN/13.11/4 and RVi/Liaoyang. Liaoning. CHN/26. 11/2. there had no change found in the important antigenic epitope sites, the hemagglutination inhibition and neutralization epitopes of the other rubella viruses. All the 145 strains isolated had the same amino acid change (Leu338--Phe338) in E1 protein. These findings suggested that genotype 1E of rubella virus was the predominant genotype in Liaoning province. the rubella prevailed in recent six years was mainly caused by rubella viruses genotype 1E with multi-transmission routes.
The purpose of this study is to bring out the consultable laboratory values of synchronous evoked potential in normal neonates and infants, investigate the characteristic of the electric response waveform, and explore its feasibility on applying to newborn auditory and visual function test as an electric physiology detection method.It was applied to go on measuring 19 cases of mature normal neonate (< or =4 days) and 11 cases of infants (< or =5 months), also comparing with the study of ABRs, FVEPs independently.Get the electric response wave form results of synchronous electric evoked potential in both groups of newborn-infants, through comparing with the result of independent ABRs and FVEPs, the monitoring result demonstrated that there were an extreme significant changes of the corresponding parameters (wave I, III, V latency) (P<0.01), and there were no significant changes of I-III, III-V interwave latency (P>0.05); it also shows that ABRs impact on FVEPs in N2 wave latency of newborn group and P1 wave latency of infant group (P<0.01).Auditory and vision pathway may be had communicated information by the neuron in the center. The technology of the auditory and visual synchronous evoked potential brings out the whole new electric physiology detection tools, it will definitely offer powerful technical support in step for newborn-infant auditory and visual function test.
Glycogen storage disease type Ia (GSDIa) is an autosomal recessively inherited disease characterized by poor tolerance to fasting, growth retardation, and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Germline mutations of glucose-6-phosphatase (G6PC) gene have been identified as a cause of GSDIa. In this study, we performed mutation analysis in five Chinese GSDIa patients belonging to five unrelated families by direct DNA sequencing. All patients were clinically classified as GSDIa. Mutation analysis of the G6PC gene revealed that all patients carried biallelic G6PC mutations (p.Ile341Asn, p.Ala274Val, p.Phe80Ile, p.Gly118Asp, p.Arg83His, c.262delG, and c.648G>T). Of the seven different mutations identified, three were found to be novel. All of the novel mutations were missense (p.Ala274Val, p.Phe80Ile, and p.Gly118Asp). The c.262delG mutation which leads to a frame-shift and truncated forms of glucose-6-phosphatase was present in three unrelated patients (one homozygote and two heterozygotes). Conclusion: By direct DNA sequencing, three novel G6PC variations were identified which expanded the G6PC mutation spectrum, and provided conclusive genetic evidences for the definitive diagnosis of the Chinese patients.
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