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OBJECTIVES@#To study the clinical features and fibroblast growth factor receptor 3 (FGFR3) gene mutations of children with achondroplasia (ACH) through an analysis of 17 cases.@*METHODS@#A retrospective analysis was performed on the clinical data and FGFR3 gene detection results of 17 children with ACH who were diagnosed from January 2009 to October 2021.@*RESULTS@#Of the 17 children with ACH, common clinical manifestations included disproportionate short stature (100%, 17/17), macrocephaly (100%, 17/17), trident hand (82%, 14/17), and genu varum (88%, 15/17). The common imaging findings were rhizomelic shortening of the long bones (100%, 17/17) and narrowing of the lumbar intervertebral space (88%, 15/17). Major complications included skeletal dysplasia (100%, 17/17), middle ear dysfunction (82%, 14/17), motor/language developmental delay (88%, 15/17), chronic pain (59%, 10/17), sleep apnea (53%, 9/17), obesity (41%, 7/17), foramen magnum stenosis (35%, 6/17), and hydrocephalus (24%, 4/17). All 17 children (100%) had FGFR3 mutations, among whom 13 had c.1138G>A hotspot mutations of the FGFR3 gene, 2 had c.1138G>C mutations of the FGFR3 gene, and 2 had unreported mutations, with c.1252C>T mutations of the FGFR3 gene in one child and c.445+2_445+5delTAGG mutations of the FGFR3 gene in the other child.@*CONCLUSIONS@#This study identifies the unreported mutation sites of the FGFR3 gene, which extends the gene mutation spectrum of ACH. ACH is a progressive disease requiring lifelong management through multidisciplinary collaboration.
Subject(s)
Child , Humans , Achondroplasia/genetics , Mutation , Osteochondrodysplasias/genetics , Receptor, Fibroblast Growth Factor, Type 3/genetics , Retrospective StudiesABSTRACT
OBJECTIVE@#To study the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy (BMD)/Duchenne muscular dystrophy (DMD) so as to provide a theoretical basis for disease management, gene therapy, and prenatal diagnosis.@*METHODS@#A retrospective analysis was performed for the clinical data and gene detection results of 52 children with BMD/DMD. Multiplex ligation-dependent probe amplification (MLPA) was used to detect the DMD gene. The children with negative results of MLPA were further screened by exon chip capture combined with next-generation sequencing (NGS). The mothers of 20 probands were validated by sequencing.@*RESULTS@#The pathogenic genes for BMD/DMD were detected in 50 children by MLPA and NGS, with a detection rate of 96%. Among the 52 children, 36 (69%) had gene deletion, 7 (13%) had duplication, and 7 (13%) had micromutation. Among the 43 children with deletion/duplication, 32 had DMD and 11 had BMD; 37 children (86%) met the reading frame rule, among whom 27 (96%) had DMD and 10 (67%) had BMD. All 7 children with micromutation had DMD.@*CONCLUSIONS@#The reading frame rule has an extremely high predictive value for DMD but a limited predictive value for BMD.
Subject(s)
Child , Female , Humans , Pregnancy , Dystrophin , Gene Deletion , Genotype , Multiplex Polymerase Chain Reaction , Muscular Dystrophy, Duchenne , Mutation , Phenotype , Retrospective StudiesABSTRACT
Objective To systematically and quantitatively evaluate the relationship of rs12252 polymorphism in IFITM3 gene and susceptibility to influenza in Chinese population. Methods The databases of Medline, PubMed, Embase, Web of Science, China National knowledge infrastructure (CNKI), Wanfang and VIP were searched to retrieve the articles which focused on the topic of relationship between the rs12252 polymorphism and susceptibility to influenza in Chinese population. Meta-analysis method was used to comprehensively and quantitatively analyze the enrolled articles. Results Seven papers with a total of 919 influenza cases were involved in this article. Influenza virus involved influenza A (H7N9, H1N1 pmd09, H3N2) and influenza B. Study-based sequential meta-analysis of the study showed that the total sample size of this study have achieved the required sample size to obtain stable positive results. The results of this meta-analysis showed that the rs12252 polymorphism was associated with susceptibility to influenza in Chinese population and that the rs12252C polymorphism in IFITM3 gene was more susceptible to have influenza in Chinese people (C vs T: OR=1.67, 95% CI:1.45-1.92; CC vs TT: OR=2.61, 95% CI:1.97-3.46; TC vs TT: OR= 1.55, 95% CI:1.20-2.00; CC vs TC+TT: OR= 2.01, 95% CI:1.49-2.72; CC+TC vs TT: OR =8.90, 95% CI:4.94-16.06). Conclusion the rs12252 polymorphism of IFITM3 gene was a risk factor for influenza in Chinese population.
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Objective To analyze the epidemiological characteristics of HFRS and rodent monitoring data in JiangXi province from 2012 to 2017, so as to provide scientific basis for controlling HFRS prevalence. Methods Descriptive epidemiological method was adopted to analyze the changes in time, region, and population morbidity of HFRS and rodent monitoring data from 2012 to 2017 in the province. Results From 2012 to 2017, there were 3 763 HFRS cases with 33 deaths reported in JiangXi province, the incidence was 1.38/100 000, the case fatality was 0.88%.The incidence in males was significantly higher than that in females( 2＝452.282, P<0.001).In the composition of occupation,the proprotion of farmers was decreased, while household workers, workers waiting for employment, students and other occupations were increased.There were two peaks in spring (from May to June) and winter (from November to January), and the winter peak was obviously higher than the spring peak. The average rat density at the two surveillance areas was 3.63%. Rattus norvegicus was predominant in residential areas and Apodemus agrarius was predominant in the wild.The six years on average index of rats with virus was 0.04. Conclusion The incidence of epidemic hemorrhagic fever in JiangXi Province generally showed an upward trend from 2012 to 2017, which suggest that we should continue to strengthen comprehensive prevention and control measures: rodent control in high-incidence areas, popularize vaccination and replenishment, and carry out health education for the whole population.
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Objective To investigate the epidemic characteristics of human brucellosis in Jiangxi province from 2011 to 2017，thereby providing reference for future prevention and control work. Methods We analyzed the case information reported in the National Notifiable Infectious Diseases Reporting Information System of Jiangxi Province during 2011-2017 by combining with the monitoring data. Results A total of 239 cases were recorded over these six years, with an average incidence rate of 0.08/100 000. Most cases and agglomerations were concentrated in the Nanchang area (48 cases/4 cases), with the case distribution ranging from 1 in 2011 to all in 2016, and the number of counties(districts) involved had increased from 1 in 2011 to 68 in 2017, which increased rapidly year by year ( 2= 94.31, P<0.001). The gender ratio was 3.12 ∶〗1(181 ∶〗58). Most cases were concentrated in the 40-65 age group, while farmers and herdsmen were high-risk population, accounting for 59.83 % (143/239). The incidence of brucellosis peaked from May to September (May peak and September peak). In 2012-2017, 7 160 blood samples were collected from risk population, with 95 being positive for Brucella (1.33 %). From 2013 to 2017, 62 strains of the Brucella, 4 were Brucella melitensis type1, 54 were Brucella melitensis type3 and 4 were Brucella suis were isolated from 193 cases. Conclusions The human brucellosis was aggravated in Jiangxi province, with the expansion of regional scope. Therefore, more efforts should be focused on regulation to prevent and control brucellosis better.
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This study attempts to use the safety training observation program to implement behavior safety management for pediatric nursing students.The program consists of the following:the selection of outstanding teaching staff,the implementation of teaching access;intensive training contents and evaluation process;the implementation of on-site observation management;the objective and real-time records of operation behavior and state and the correction and improvement of unsafe behaviorduringoperation.The results showed that the nursing students have a positive attitude to the behavior safety training observation.After the implementation ofsafety observation program,the incidence of adverse events and sharp instrument injury weresignificantly reduced,and the accuracy in the execution of hand hygieneand in the technical operation wereincreased significantly.It shows that applying safety training observation method to clinical practice of nursing students can helpthem improve the standardized operation and risk avoidance ability,and promote the safety of clinical teaching.
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Dielectric barrier discharge ion source-mass spectrometry ( DBDI-MS) can achieve in-situ and efficient detection of samples without tedious pretreatment, and has become a popular analytical method. To improve the detection sensitivity, a novel mass spectrometric method based on gold nanoparticles ( AuNPs)-assisted paper-based injection mode and DBDI-MS technology was developed for the fast determination of four veterinary drugs. The detection signal strength was improved by 8-31 times compared to the veterinary drugs which were tested without AuNPs-assisted paper based injection. Under the optimal conditions, the experimental data of four veterinary drugs showed a good linear relationship between the signal and the concentration in the respective range, with correlation coefficient ( r ) of 0. 951-0. 996. Moreover, the recoveries were between 79. 4% and 96. 5% at three spiked levels. This method has many distinct advantages, such as low detected limitation, low cost and high efficiency, and is also very suitable for fast on-site detecting, showing great potential in feed quality control.
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Based on the electric field shielding and insulation technology, the single electrode dielectric barrier discharge ion source ( DBDI ) has the characteristics of uniform discharging, stability, and high ionization energy, and thus can be used to detect various samples with a large range of polarity. However, the ionization energy is too high to reduce the background signal noise, and thus affects the detection effectiveness to low polarity and low boiling point samples. To enhance the detection effectiveness to these samples, a method of eliminating electrons of single electrode DBDI by using external metal electrodes was developed in this study. Then, the single electrode DBDI was improved by an external needle electrode and an external metal net, respectively. The mechanism of those external metal electrodes was discussed, and the experimental studies were carried out. The results showed that the external metal net technology had an advantage in improving signal to noise ratio ( SNR ) , and the enhancement of SNR for the detection of isoprocarb, perfluorooctanoic acid and SudanⅢwas about 5-6 times. Based on the technology, a method for determination of Sudan Ⅲ in chili powder was developed. The recoveries, RSD and LOD were 83. 7%-94. 6% , 5. 6%-9. 0% and 23 mg/kg, respectively. The external metal electrode technique has broadened the detection range of single electrode DBDI to the field of low polarity, low boiling point and complex samples.
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Currently, rapid detection of effective components in synthetic drugs and herbal medicine remains an important and difficult issue of medicine research. A novel ionization technique, called dielectric barrier discharge ionization ( DBDI ) , has strong ionization ability, and is suitable for weak polar substances. Besides, this technique possesses many intrinsic advantages, such as simplicity, rapidity, no complicated sample pretreatment, etc. In this study, a new DBDI ion source, based on single electrode technique, was used to detect four weak polar synthetic drugs. The results showed that the protonated molecular ions [ M+H]+of four weak polar synthetic drugs were observed obviously. What′s more, the DBDI ion source was also used for the rapid analysis of Radix Aconiti and Radix Aconiti Preparata pieces without any sample pretreatment. The result showed that the protonated molecular ions [M+H]+ and fragment ions [M+H-60]+of aconitine, hypaconitine, and mesaconitine were detected in Radix Aconiti. And only the fragment ions [M+H-60]+were detected in Radix Aconiti Preparat. The researches indicated that diester aconitine and monoester aconitine were the main effective components of Radix Aconiti Radix and Aconiti Preparat, respectively. The new DBDI ion source provided a fast and reliable method to identify effective components of medicine, showing a broad application prospects in synthetic drugs and herbal medicine research.
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<p><b>OBJECTIVE</b>To investigate the changes of pulmonary function and fractional exhaled nitric oxide (FeNO) in the standardized treatment of bronchial asthma in children.</p><p><b>METHODS</b>A total of 254 children who were newly diagnosed with acute exacerbation of bronchial asthma were selected as asthma group, and they were divided into two subgroups: asthma with concurrent rhinitis and asthma without concurrent rhinitis. All patients received the standardized management and treatment for one year. The pulmonary function parameters included forced expiratory volume in one second (FEV1), peak expiratory flow (PEF), maximal mid-expiratory flow (MMEF), and mid-expiratory flow at 25%, 50%, and 75% of vital capacity (MEF25, MEF50, and MEF75). The FeNO levels were measured before treatment and at 3, 6, 9, and 12 months after treatment. Another 62 healthy children were selected as the control group, and the pulmonary function and FeNO levels were measured only once.</p><p><b>RESULTS</b>During one year of standardized treatment, FEV1, PEF, MMEF, MEF25, MEF50, and MEF75 gradually increased, and FeNO levels gradually decreased (P<0.05). Indicators of large airway function, such as FEV1 and PEF, almost returned to normal after 6 months of treatment; indicators of small airway function, such as MMEF, MEF25, MEF50, and MEF75 almost returned to normal after 9 months of treatment; there were no significant differences in the above indices between the asthma group and the control group after one year of treatment (P>0.05). However, the asthma group had a significantly higher FeNO levels than the control group after one year of treatment (P<0.05). The asthmatic patients with concurrent rhinitis had significantly higher FeNO levels than those without concurrent rhinitis before treatment and 3 months after treatment (P<0.05). Before treatment, there was a significant negative correlation between FeNO levels and pulmonary function parameters (P<0.05).</p><p><b>CONCLUSIONS</b>With the standardized treatment of bronchial asthma in children, pulmonary function parameters gradually increase and FeNO levels gradually decrease. The recovery of large airway function occurs earlier than the recovery of small airway function. Furthermore, the effect of rhinitis on airway responsiveness should be noted.</p>
Subject(s)
Child , Female , Humans , Male , Asthma , Therapeutics , Breath Tests , Forced Expiratory Volume , Lung , Maximal Midexpiratory Flow Rate , Nitric Oxide , RhinitisABSTRACT
Currently, rapid detection of effective components in synthetic drugs and herbal medicine remains an important and difficult issue of medicine research. A novel ionization technique, called dielectric barrier discharge ionization ( DBDI ) , has strong ionization ability, and is suitable for weak polar substances. Besides, this technique possesses many intrinsic advantages, such as simplicity, rapidity, no complicated sample pretreatment, etc. In this study, a new DBDI ion source, based on single electrode technique, was used to detect four weak polar synthetic drugs. The results showed that the protonated molecular ions [ M+H]+of four weak polar synthetic drugs were observed obviously. What′s more, the DBDI ion source was also used for the rapid analysis of Radix Aconiti and Radix Aconiti Preparata pieces without any sample pretreatment. The result showed that the protonated molecular ions [M+H]+ and fragment ions [M+H-60]+of aconitine, hypaconitine, and mesaconitine were detected in Radix Aconiti. And only the fragment ions [M+H-60]+were detected in Radix Aconiti Preparat. The researches indicated that diester aconitine and monoester aconitine were the main effective components of Radix Aconiti Radix and Aconiti Preparat, respectively. The new DBDI ion source provided a fast and reliable method to identify effective components of medicine, showing a broad application prospects in synthetic drugs and herbal medicine research.