1.Clinical study advance of orthostatic hypertension in children
Chinese Journal of Applied Clinical Pediatrics 2016;31(13):1037-1040
Orthostatic hypertension (OHT)in children was first proposed by Chinese scholars in 2012.The diagnostic criterion was revised in 2015.OHT in children was not rare in clinical practice.Children and adolescents are susceptible to OHT when they suddenly change posture or standing for a long time.The mechanisms of OHT were not clear.Dizziness,headache,nausea and vomiting were the main manifestations of OHT.Severe symptom in childhood OHT includes syncope.The prognosis of OHT was good,but the abnormal blood pressure will last to adults.Further study in OHT will help to predict the risk of cardiovascular and cerebrovascular diseases and help to evaluate target or-gan injury.The treatment of OHT has been explored,and non -medical treatment is the main option.Study in medical treatment for OHT has not been conducted.Now,the diagnostic criteria in children,epidemiologic status,clinical fea-tures and treatment of OHT were focused to deepen the understanding of OHT in children and improve the clinical standard of the disease.
2.The effects of delayed cord clamping in preterm infants: a meta-analysis
Yiyu CHEN ; Jin ZHOU ; Yuwei HE
Chinese Journal of Neonatology 2017;32(2):137-143
Objective To study the short-term effects of delayed cord clamping (DCC) in preterm infants.Method A thorough search was conducted on medical databases including Cochrane Library,PubMed,Ovid,Medline,VIP citation databases,Wanfang database and CNKI.Randomized control trials (RCTs) of DCC in preterm infants were retrieved from medical literature published during January 1,2000 to January 1,2016.DCC group had cord clamping 30 ~60 s after birth,and immediate cord clamping (ICC) group had cord clamping within 30 s after birth.Methodological quality was evaluated using Cochrane Handbook for systematic reviews and RevMan 5.1 software.Meta-analysis was performed using RevMan 5.1 software.Result Seventeen RCTs were included.Meta-analysis showed that:the blood pressure within 4 hours after birth (WMD =2.49,95% CI 0.74 ~ 4.24),the hemoglobin concentration (WMD =15.92,95 % CI 6.37 ~ 25.47) and the hematocrit (WMD =4.84,95 % CI 3.47 ~ 6.22) within 24 hours after birth in the DCC group were higher than the ICC group,P <0.05;the risk of anemia (RR =0.62,95% CI 0.47 ~ 0.81),intraventricular hemorrhage (RR =0.64,95 % CI 0.45 ~ 0.91) and mortality (RR =0.42,95% CI 0.20 ~0.86) in the DCC group were lower than the ICC group,P <0.05;there were no statistically significant differences between the two groups in peak of serum bilirubin,phototherapy duration,rate of phototherapy treatment and blood transfusion,the incidence of hyperbilirubinemia and polycythemia (P > 0.05).Conclusion DCC is safe and feasible for premature infants,and can improve the outcome of premature infants.
3.Construction and identification of nine single-point mutant recombinant plasmids of phenylalanine hydroxylase gene
Jinli BAI ; Yujin QU ; Yuwei JIN
Medical Journal of Chinese People's Liberation Army 1983;0(05):-
Objective To perform PCR site-directed mutagenesis of nine novel PAH gene mutations (Y154H, R157I, Y206C, G247R, D282G, G346R, S349A, A389G, R400K) identified in northern Chinese and construct mutant recombinant plasmids of PAH gene. Methods 1) Every mutant recombinant plasmid was constructed according to the site of the mutation localized in functional domain of PAH gene and the related clinic phenotype of patients with the gene mutation. 2) Using the wild-type PAH expression vector as a templet, the mutant recombinant plasmids were directly amplified by PCR with Platinium Taq DNA polymerase and nine pairs of primers which were designed according to the human PAH cDNA sequence and the requirement for site-directed mutagenesis technology. 3) The positive strains were selected by Amp resistant test, PCR and restriction endonuclease analysis. The Mva Ⅰ, Mva Ⅰ, Hind Ⅲ, Rsa Ⅰ, Rsa Ⅰ sites exist in the sequences near the mutant sites of S349A, D282G, G247R, Y206C, Y154H, respectively, but not in the related sequence of wild-type PAH expression vector. Restriction endonuclease digestion could be directly used in identifying the mutant sites. However, the amplification created restriction site (ACRS) analysis was supplied in the followed identification of R157I, G346R, A389G, R400K. Finally the sequences of mutant recombinant plasmids of PAH gene were confirmed by DNA sequence analysis. Results Every sequence analysis showed that the mutant nucleic acids were introduced at the expected sites of PAH gene, suggesting that the mutant recombinant plasmids of PAH gene were constructed successfully. Conclusion PCR site-directed mutagenesis is accurate and highly efficient. The successfully mutagenized plasmids of PAH gene lay the foundation for the functional analysis of phenylalanine hydroxylase in mammalian cell system.
4.A study on correlation between global end-diastolic volume index and central venous pressure in fluid resuscitation in patients with severe sepsis
Zhuheng WANG ; Jing ZHANG ; Yuwei LI ; Jin WANG ; Hongxia CHANG
Chinese Journal of Integrated Traditional and Western Medicine in Intensive and Critical Care 2013;(4):248-249
Objective To explore the correlation between global end diastolic volume index(GEDI)and central venous pressure(CVP)of severe sepsis patients during fluid resuscitation by pulse induced continuous cardiac output(PiCCO )test. Methods Sixty-four severe sepsis patients had been treated by fluid resuscitation strictly in accordance with the guidelines for treatment of sepsis in 2008. During the treatment,GEDI and corresponding CVP data were measured and recorded to observe the correctness of volume reaction under different CVP ranges,and the relativity between GEDI and CVP was analyzed. Results In the whole process of monitoring circulatory blood volume,no significant correlation between CVP and GEDI(r=-0.012,P>0.05)was found in severe patients with severe sepsis. When the CVP was in 0-8 mm Hg(1 mm Hg=0.133 kPa)or greater than 12 mm Hg,there was no correlation with the GEDI(r=-0.009,-0.020,respectively,both P>0.05). When the CVP was in 8-12 mm Hg at the 6 hours resuscitation target required by the guidelines,there was an obvious positive correlation between CVP and GEDI(r=0.653,P<0.01). Conclusion CVP is not suitable to be an exclusive target indicator for fluid resuscitation volume.
5.R176X mutant homozygote in phenylketonuria firstly detected in Hui nationality in China: One case report
Wuzhong YU ; Donghui QIU ; Fang SONG ; Li LIU ; Yuwei JIN ; Liangkuan YU ; Xiaoxiang SHI
Chinese Journal of Tissue Engineering Research 2007;11(38):7718-7720
BACKGROUND: Phenylketonuria is caused by gene mutation of phenylalanine hydroxylasel (PAH), which is mainly induced by permutation, short segments and insertion of base.OBJECTIVE: To evaluate the gene mutation of phenylalanine hydroxylasel in phenylketonuria in Hui nationality.DESIGN: Open study.SETTING: Urumqi General Hospital of Lanzhou Military Area Command of Chinese PLA; Capital Pediatrics Institute.PARTICIPANTS: A boy of Hui nationality in China and aged 3.1 years was selected in this study. The boy had intellect hysteresis in his one year and received medical treatment in his three years, while he was diagnosed as cerebral paralysis. After repeatedly inefficient treatment, he was hospitalized in our hospital on December 13, 2004. Iron sesquichloride in urine was strongly positive and concentration of serum phenylalanine was 1 680 μmol/L; therefore, he was diagnosed as the typical phenylketonuria.METHODS: 5 mL venous blood was selected from the boy and his parents, respectively, and anticoagulated with EDTA-Na2. DNA in gene group was extracted by using typical phenol/chloroform method. In addition, polymerase chain reaction (PCR) primer sequence of extron 7, 6, 11, 3, 12 and 5 of PAH gene was designed based on references. And then, PCR products were detected with 2% agarose gel electrophoresis. 5 μL PCR products were mixed with the same volume of degenerated buffer solution, degenerated at 97 ℃ for 5 minutes, put in iced bath and performed with 80 g/Lnon-degenerated polyacrylamide gel electrophoresis. After that, the products were dealt with sliver staining routinely, and single strand DNA banding patterns were analyzed and recorded. ABI377 automatic sequenator (PE Company) was used to detect PCR sequence and purify PCR product in Shanghai Boya Biotechnology Company.MAIN OUTCOME MEASURES: Iron sesquichloride in urine, concentration of serum phenylalanine and mutant gene types of phenylalanine hydroxylase.RESULTS: Extron 7, 6, 11, 3, 12 and 5 of PAH gene were analyzed in the boy and his parents. The results demonstrated that SSCP electrophoresis in extron 6 was different from that in the normal control group. Site of electrophoresis strip of his father was coincident with that of his mother, but different from that of the boy. Sequencing results indicated that point mutation (cytosine replaced by thymine), which was a R176X mutant heterozygote, occurred at the 526th site of cDNA of phenylalanine hydroxylase gene in his parents; however, two chromosomes of the boy had mutation at the same site, which was R176X mutant homozygote.CONCLUSION: Mutation of R176X homozygote of phenylketonurea is firstly reported in Hui nationality in China.
6.Distribution of common chromosomal karyotypes in patients with Turner syndrome and correlation between the mean age and height standard deviation scores on diagnosis
Hong WANG ; Yuwei JIN ; Xiaobo CHEN ; Yanyan CAO ; Jinli BAI ; Yujin QU ; Fang SONG
Chinese Journal of Applied Clinical Pediatrics 2015;30(24):1894-1897
Objective To analyze the distribution of common chromosomal karyotypes of patients with Turner syndrome (TS), and to explore the correlation between the age and height standard deviation scores (HSDS) on diagnosis.Methods Retrospective investigation was performed for the data of age and HSDS on diagnosis in 273 TS girls(≤ 18.0 years old)diagnosed by chromosomal karyotypes.The main statistical methods were analyzed with t-test and Pearson correlation test by using the SPSS 18.0 statistical software.Results (1) There were 4 kinds of common chromosomal karyotypes in the TS :45, X (87/273 cases,31.9%),46, X, i (Xq) (43/273 cases, 15.7%) ,45, X/46, X, i (Xq) (36/273 cases, 13.2%) and 45, X/46, XX (23/273 cases, 8.4%), respectively, the adolescent TS all had delayed puberty.For the cases with 45, X karyotypes ,3 cases presented mental retardation and 2 cases with organs deformity.(2)The patients with 45 ,X/46,X,i(Xq) karyotypes or with 46,X,i(Xq) karyotypes had the maximum(12.56 age) or the minimum(9.70 age) mean age on diagnosis, respectively, there was a significant difference between 2 groups (t =3.019, P =0.004).The maximum deviation from normal height was found in the patients with karyotypes of 46, X,i (Xq) (HSDS =-4.04), and the minimum deviation was in the patients with karyotypes of 45,X/46, XX (HSDS =-3.16), and there was a significant difference between 2 groups (t =-2.95, P =0.004).(3) More than 75.7% of TS patients was diagnosed when their heights deviated above 3 SD,and their mean age on diagnosis was 12.10 age,which was 3 years later than those patients within 2 SD.(4) There was a significant negative correlation between the age and HSDS on diagnosis in the groups of common chromosomal karyotypes[45,X、46,X,i(Xq) and 45,X/46,XX] (r =-0.551,-0.560,-0.622,all P < 0.01), except for the group with the 45, X/46, X, i (Xq).Conclusions (1) In this study, the consti-tuent ratios of these 4 common chromosomal karyotypes were different from those in Europe and America's.(2)Patients with 45 ,X may have more severe symptoms than others.(3)The mean age on diagnosis was at least 3.0 years earlier when considered HSDS below-2.00 as an indicator for chromosomal karyotype screening,which would facilitate earlier diagnosis.
7.Identification of two survival motor neuron gene 1 gene mutations and evaluation of their effects on full-length survival motor neuron gene 1 transcripts
Jinli BAI ; Yujin QU ; Erzhen LI ; Yuwei JIN ; Yanyan CAO ; Hong WANG ; Fang SONG
Chinese Journal of Neurology 2013;(2):100-106
Objective To perform mutation analysis of survival motor neuron gene 1 (SMN1 in two spinal muscular atrophy (SMA) patients and their parents to evaluate the effects of the two SMN1 gene mutations on the transcript levels of the gene and preliminarily predict their effects on the structure and function of SMN protein.Methods Mutation analysis of SMN1 gene was carried out by multiplex ligationdependent probe amplification,reverse transcript-polymerase chain reaction (RT-PCR) and cloning sequencing.Transmission of the mutations was confirmed by the mutation analysis in patients' parents.The full-length SMN1 (SMN1-fl) transcript levels of the patients carrying these subtle mutations were detected using quantitative RT-PCR.Results The two patients were diagnosed as SMA Ⅱ and SMA Ⅲ.They carried p.Val19GlyfsX21 and p.Ala2Gly SMN1 mutations in SMN1 gene,respectively.Both of the two mutations were originated from their fathers.Compared with the healthy individuals (23.5 ± 4.9),the two patients had a significant reduction in the level of SMN1-fl transcripts (t =3.322,P =0.011 (p.Ala2Gly) ;t =6.964,P =0.000 (p.Val19GlyfsX21)).However,compared with the healthy carriers (14.1 ±4.5),the patient with p.Ala2Gly mutation had no significant reduction in the level of SMN1-fl transcripts (13.9 ±3.6,t =0.058,P =0.955) ; however,the patient with p.Val19GlyfsX21 mutation had a significant reduction (4.9± 2.4,t =3.725,P =0.004).Conclusions Two SMN1 gene mutations are identified in our study.The mutation p.Val19GlyfsX21 is a novel mutation and p.Ala2Gly is firstly reported in Chinese SMA patients.p.Val19GlyfsX21 may possibly lead to decreased SMN1-fl mRNA by nonsense-mediated messenger RNA decay,however,p.Ala2Gly has no obvious effects on the amount of the SMN1-fl transcripts,indicating that its deleterious effect may be occurring at SMN protein level or the function of SMN protein.
8.Research Progress in Management of IgA Nephropathy
Journal of Shenyang Medical College 2016;18(5):396-399
Immunoglobulin A nephropathy (IgAN) is the most common type of glomerulonephritis in the world and causes end-stage renal disease (ESRD), So there is a need for effective treatment strategies to prevent the decline in kidney function. Traditional treatment is based on blood pressure control, angiotensin converting enzyme inhibitors (ACEI) or angiotensin receptor blockers (ARB), corticosteroid and immunosuppressive. In recent years, along with a better understangding of its pathogenesis, the new treatment has been put forward.
9.Status quo of DNR application and influencing factors of decision-making in emergency department patients
Chuanqi DING ; Jingfen JIN ; Yuwei WANG ; Nianqi CUI
Chinese Journal of Practical Nursing 2020;36(23):1830-1834
With the aging of the population and the change of disease spectrum in China, the number of emergency department patients at the elderly, chronic end-stage, advanced tumor and cerebrovascular accident is increasing gradually, and the quality of life in emergency end of life patients is getting more and more attention. This paper reviews the relevant literature of "do not resuscitate" (DNR) in emergency department at home and abroad, introduces the current status of DNR application and the influencing factors of decision-making in emergency department at home and abroad, in order to provide reference for the application and practice of DNR in emergency department in China.
10.Distribution of pathological types and epidemiological characteristics based on kidney biopsy in Northwest China
Yunlong QIN ; Jin ZHAO ; Xiao WEI ; Yuwei WANG ; Zixian YU ; Yumeng ZHANG ; Shiren SUN
Kidney Research and Clinical Practice 2023;42(1):63-74
The spectrum of biopsy-confirmed kidney disease varies with regions and periods. We describe the distribution of pathological types and epidemiological characteristics of kidney diseases in Northwest China due to regional differences in geographical environment, social economy, and dietary habits. Methods: Kidney biopsy cases from 2005 to 2020 in Xijing Hospital were retrospectively analyzed. Pathological characteristics of patients in different periods were analyzed using the t test or chi-square test. Joinpoint regression was used to analyze trends in pathological types and disease spectrum. Results: A total of 10,528 eligible patients were included. Primary glomerular disease (PGD) accounted for the majority of the cases and exhibited an obvious downward trend, whereas secondary glomerular disease (SGD) showed an obvious upward trend. Among PGD, immunoglobulin A nephropathy (IgAN) remained the most common pathological type, and the detection rate of membranous nephropathy (MN) was significantly increased. Among SGD, Henoch-Schönlein purpura nephritis (HSPN) was the most common pathological type and may present a significant characteristic of Northwest China. Diabetic nephropathy (DN) exhibited the most obvious upward trend in the whole process, whereas the fastest growth since 2012 was in hypertensive nephropathy. Conclusion: The proportion of SGD increased whereas PGD declined. IgAN remained the most common PGD, and HSPN was the most common SGD. MN and DN showed the most obvious upward trend among PGD and SGD, respectively. Changes in the spectrum of kidney disease, especially the constituent ratio of SGD, pose a great challenge to public health.