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Objective@#To analyze the epidemiological characteristics and trends of chronic disease mortality among children aged 0-14 in China during 2012-2021, so as to provide scientific basis for the formulation of prevention strategies for chronic diseases in children.@*Methods@#The descriptive epidemiological analysis was conducted for chronic disease mortality among children aged 0-14 during 2012 to 2021 from China Cause of Death Surveillance Data Set, and the Joinpoint regression models were used to analyze the average annual percentage change (AAPC) of child chronic disease mortality.@*Results@#From 2012 to 2021, the mortality rates of chronic diseases among children aged 0-14 years in China (23.33/100 000, 19.54/100 000, 19.27/100 000, 17.69/ 100 000 , 16.87/100 000, 16.44/100 000, 14.49/100 000, 13.79/100 000, 11.61/100 000, 9.43/100 000)showed a decreasing trend (AAPC=-7.94%, P <0.01). The overall mortality rates for boys and girls and for chronic diseases were decreasing in both urban and rural areas (AAPC=-8.44%, -7.05%, -8.42%, -6.77%, P <0.05). The average annual mortality rate of chronic diseases was higher in boys (16.81/100 000) than in girls (13.96/100 000) ( χ 2=526.44, P <0.01). The average annual mortality rate from chronic diseases among children was higher in urban (15.98/100 000) than in rural areas (13.46/100 000) in the central region, and higher in rural (19.75/100 000) than in urban areas (15.96/100 000) in the western region ( χ 2=117.63, 190.25, P < 0.01 ). Except for malignant tumors, the trend of overall mortality rates of congenital abnormalities, neurological and mental disorders, cardiovascular diseases, and digestive system diseases were all decreasing (AAPC=-11.48%, -2.92%, -7.82%, -12.51 %, P <0.05).@*Conclusions@#The overall mortality rate of chronic diseases in children in China shows a downward trend during 2012-2021, but the situation of chronic disease prevention and control is still severe. Targeted prevention strategies should be adopted, focusing on the prevention and health care of males, children under 5 years old.
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Objective@#To understand the development trend of poor vision among primary students through cross sectional, surveillance and longitudinal analysis, so as to put forward some suggestions on adolescents growth and health.@*Methods@#Visual data of 3 753 pupils were inclucled for analysis from Gui an New Distinct, Guizhou Province in autumn semester 2021, and were compared with data collected during the year of 2016-2021. The curve, increment and contribution rate of poor vision from each grade of the three designs were contrasted.@*Results@#In 2021, poor vision rate among pupils in this town was 25.6%. The curve of poor vision rate in cross sectional data was U shaped with significant rise followed by decline which was different from monitoring and longitudinal tracking data, and the trend of poor vision rate of monitoring and longitudinal tracking data were linear with continued increases. The cross sectional data in 2021 showed that the highest contribution rate of poor vision rate of pupils was in grade 1(87.0% ), while other data showed that those were both in grade 4(45.0%, 33.9%).@*Conclusion@#The accuracy of the development trend of poor vision is lowest in cross sectional analysis and highest in longitudinal analysis. However, data acquisition and preservation is easy in cross sectional study and difficult in longitudinal study. It is necessary to improve the electronic information system based on cross sectional data to gradually form a complete monitoring and longitudinal tracking data, and combine different data to provide more accurate information.
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To explore the application value of whole exome sequencing (WES) in the diagnosis of prenatal and postnatal neurodevelopmental disorders (NDDs). A total of 70 patients diagnosed with NDDs who underwent WES at the Medical Genetics Center of the Maternal and Child Health Hospital of Hubei Province between June 2020 and July 2021 were retrospectively analyzed. Genomic DNA was extracted from peripheral blood samples and amniotic fluid. WES-based copy number variant (CNV) analysis was integrated into the routine WES data analysis pipeline. The results showed that a molecular diagnosis rate could be made in 21/70 (30%) cases. Of 21 positive cases, 14 (23%) cases were detected by single-nucleotide variant/small insertion/deletion (SNV/Indel) analysis, of which 12 variants were novel, 6 (9.8%) cases were detected by WES-based CNV analysis, and 1 (1.6%) case was detected by a combination of both. The diagnostic yield of WES combined with CNV analysis was higher than that of SNV/Indel analysis alone (30%, 21/70 vs. 20%, 14/70). Of the 28 prenatally diagnosed cases, 6 cases were found to have inherited parental variation for NDDs, 10 cases were found not to have the same pathogenic variation as the proband, and the remaining 12 cases were found to have no pathogenic or likely pathogenic variation that could explain the NDDs phenotype. Clinical follow-up showed that 5 families opted for abortion and the remaining had no current abnormalities. In conclusion, WES may be an effective method to clarify the genetic etiology and prenatal diagnosis of NDDs, which is helpful in assessing the prognosis to aid clinical management and reproductive guidance.
Subject(s)
Pregnancy , Humans , Female , Exome Sequencing , Retrospective Studies , Prenatal Diagnosis , Amniotic Fluid , PhenotypeABSTRACT
OBJECTIVE@#To explore the genotype mutation characteristics of patients with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Wuhan.@*METHODS@#A total of 1 321 neonates with positive screening and outpatients were received G6PD mutation detection, 12 kinds of common G6PD mutation in Chinese people was detected by using multicolor melting curve analysis (MMCA) method, for those with negative results, the enzyme activity and clinical information were analyzed, sequencing was recommended after informed consent when it is necessary.@*RESULTS@#Among 1321 patients, a total of 768 mutations were detected out, with a detection rate of 58.1%. A total of 18 types of G6PD genotypes were identified, including c.1388G>A, c.1376G>T, c.95G>A, c.1024C>T, c.871G>A, c.392G>T, c.487G>A, c.1360C>T, c.1004C>A, c.517T>C, c.592C>T, c.94C>G, c.152C>T, c.320A>G, c.1028A>G, c.1316G>A, c.1327G>C and c.1376G>C, including 683 male hemizygotes, 3 female homozygotes, 80 female heterozygotes and 2 female compound heterozygous.@*CONCLUSION@#A total of 18 types of G6PD mutations are identified in the reaserch, and c.94C>G, c.1028A>G and c.1327G>C are first reported in Chinese population. The most common G6PD mutation types in Wuhan are c.1388G>A, c.1376G>T, c.95G>A.
Subject(s)
Female , Humans , Infant, Newborn , Male , Asian People/genetics , Genotype , Glucosephosphate Dehydrogenase/genetics , Glucosephosphate Dehydrogenase Deficiency/genetics , Heterozygote , MutationABSTRACT
Background The study on influences of gender,age and axial length (AL) on lens thickness (LT) and anterior chamber depth (ACD) in normal population is still lack in China.Objective This study was to measure LT and ACD in normal subjects and discuss their changes with age,gender and AL.Methods AL,ACD and LT were measured on 866 eyes of 433 normal population with Lenstar LS900 in Tianjin Eye Hospital from March through December in 2013,including 390 eyes in 195 males and 476 eyes of 238 females.ACD/AL,LT/AL and (ACD+LT)/AL were calculated after measurement.The subjects were grouped to the 10-20 years group,21-30 years group,31-40 years group,41-50 years group,51-60 years group and ≥61 years group based on age,or the 22 mm≤AL＜24 mm group,24 mm≤AL＜26 mm group and AL≥26 mm based on AL,and the measured parameters were compared and analyzed among the groups.Oral informed consent was obtained from each subject or child contutor prior to any medical examination.Results AL,ACD and LT values were (24.41±1.37),(2.89±0.42) and (4.05±0.52) mm in the males,and those in the females were (23.83±1.31),(2.72±0.40) and (4.20±0.44) mm,showing significant differences between them (t=6.278,6.102,-4.595,all at P=0.000).No significant differences were found in ACD,LT,ACD/AL,LT/AL and (ACD+LT)/AL values between the right eyes and the left eyes (t=-0.713,0.186,-0.754,0.296,-0.168,all at P＞0.05).As the increase of the AL,ACD was remarkable deepened but LT was declined,with the considerable difference among the 22 mm ≤ AL＜24 mm group,24 mm ≤ AL＜ 26 mm group and AL ≥ 26 mm group (F =176.640,94.569,both at P =0.000).ACD value was higher,but LT value was lower in the 24 mm≤AL＜26 mm group or AL≥26.00 mm group than that in the 22 mm≤AL＜24 mm group (all at P＜0.05).ACD value was gradually reduced,while LT value was elevated with aging,with significant differences among the different age groups (F =104.531,373.225,all at P =0.000).Significant correlations were found between age and ACD,LT or (ACD + LT)/AL,with the regression equations of ACD (mm) =-0.015 × age + 3.434 (F =-22.979,P =0.000);LT (mm) =0.024 × age + 3.122 (F =44.856,P =0.000),LT/AL =0.001 × age + 0.122 (F=37.982,P=0.000),(ACD+LT)/AL=0.001×age+0.259 (F=22.451,P=0.000).Conclusions Compared with normal females,males have thinner LT and deeper ACD.In the normal eyes,longer AL is,thinner LT is and the deeper ACD is.LT thickens and ACD deepens with aging.
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As ophthalmic science develops,the expectations of the patients undergoing cataract also advance.Good Snellen visual acuity is not always an indicator for patient's satisfaction,and the visual quality is much more important.The intraocular straylight is one of the important parameters to analyze the vision quality after surgery.The pseudophakic photic phenomena,such as dysphotopsia,is closely related to the intraocular straylight.The posterior capsular opacification,the material and the edge design of the intraocular lens (IOL),the diameter of IOL optical component are the important influential factors that cause the dysphotopsia.Great attention must be paid to it,which make us to understand the straylight deeply in order to improve postoperative visual quality.
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Background：Interleukin-17A (IL-17A) is a key inflammatory cytokine in many disorders, while the significance of IL-17A in nasal polyposis (NP) is still obscure. This study aimed to investigate the expression of IL-17A in nasal polyps from both atopic and nonatopic patients and its associations with clinical and histological features. Methods: In all, 30 patients with NP were included, and were grouped into atopic and nonatopic patients according to skin prick test (SPT). Disease severity was evaluated by symptom score, endoscopy score and CT score. Histological characteristics were assessed by eosinophilic infiltration, basement membrane (BM) thickness, epithelial damage, squamous metaplasia, and goblet cell hyperplasia. IL-17A expression in polyps was detected by ELISA and immunohistochemistry. Results: Endoscopy score and CT score were significantly higher in atopic NP patients than in nonatopic NP patients (P<0.05). IL-17A levels were significantly upregulated in both atopic (P<0.01) and nonatopic (P<0.05) patients versus controls. Furthermore, IL-17A levels were significantly higher in the atopic group versus nonatopic group. Significantly positive correlations were found between IL-17A levels and CT scores, eosinophilic infiltration and BM thicknesses. Conclusions: These results indicated that expression of IL-17A was significantly upregulated in NP patients and was more severe in atopic NP patients, suggesting that IL-17A may play an important role in the pathology of NP and atopy may contribute to NP by stimulating the production of IL-17A.
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<p><b>OBJECTIVE</b>To examine the influence of vascular endothelial growth factors (VEGF) in controlling the growth of an experimental osteosarcoma in mice by performing retrovirus-mediated sFlt-1 gene modification.</p><p><b>METHODS</b>From March to October 2010 human osteosarcoma G-292 cells were in vitro infected with retroviral vectors encoding soluble Flt-1 or LacZ gene before transplanted into proximal tibiae of immune deficient SCID mice to establish experimental orthotopic osteosarcoma. Daily observation and biweekly microCT were performed to monitor tumor development and progression till sacrifice at 8 weeks after tumor cell inoculation for histological and molecular analyses.</p><p><b>RESULTS</b>Successful transgene expression was confirmed in the culture media of sFlt-1 transduced G-292 cells using ELISA, and with positive X-gal staining of the LacZ transduced cells. Noteworthy tumors were grown in all mice on the tibiae receiving G-292 cell inoculation, with clear detection on microCT images starting 2 weeks after inoculation. Over the time period, tumors derived from sFlt-1 transduced G-292 cells were distinctively smaller in size compared to the ones from wide-type G-292 and G-292-LacZ cells. Histology showed typical osteosarcoma characteristics including severe cellular pleomorphism, bone erosions, and neo-vascularization. Real-time polymerase chain reaction indicated significantly higher sFlt-1 expression in sFlt-1 transduced groups than the wild-type G-292 or LacZ treated groups. Strong expression of oncogenes c-myc and c-fos were also obvious, along with the expression of VEGF in the primary tumor tissue.</p><p><b>CONCLUSION</b>Retrovirus-mediated sFLT-1 gene modification decelerates the osteosarcoma tumor growth in this murine model.</p>
Subject(s)
Animals , Female , Humans , Mice , Bone Neoplasms , Genetics , Metabolism , Pathology , Cell Line, Tumor , Genetic Vectors , Lac Operon , Mice, SCID , Neovascularization, Pathologic , Metabolism , Pathology , Osteosarcoma , Genetics , Metabolism , Pathology , Retroviridae , Genetics , Transgenes , Vascular Endothelial Growth Factor A , Metabolism , Vascular Endothelial Growth Factor Receptor-1 , MetabolismABSTRACT
Objective To study the immune responses of Th1 and Th2 subsets of T cells in 26 children with mycoplasma pneumo-niae pneumonia(MPP).Methods ELISA was used to detect the levels of interferon- ?( IFN- ?) and interleukin-4(IL-4) in the serum in 12 healthy children as normal controls and 26 patients of acute stage as acute stage MPP group, 9 of whom in recovery stage were as recovery stage MPP group. Results IFN - ? level in acute stage MPP group was significant higher than that in normal controls (P 0.05); and IFN - 7/IL - 4 ratio was significant higher than that in normal controls( P0.05).Conclusion Thl responses increase and Th2 responses decrease in children with MPP,and this kind of response persists during the recovery stage.