1.A multicenter study of neonatal stroke in Shenzhen,China
Li-Xiu SHI ; Jin-Xing FENG ; Yan-Fang WEI ; Xin-Ru LU ; Yu-Xi ZHANG ; Lin-Ying YANG ; Sheng-Nan HE ; Pei-Juan CHEN ; Jing HAN ; Cheng CHEN ; Hui-Ying TU ; Zhang-Bin YU ; Jin-Jie HUANG ; Shu-Juan ZENG ; Wan-Ling CHEN ; Ying LIU ; Yan-Ping GUO ; Jiao-Yu MAO ; Xiao-Dong LI ; Qian-Shen ZHANG ; Zhi-Li XIE ; Mei-Ying HUANG ; Kun-Shan YAN ; Er-Ya YING ; Jun CHEN ; Yan-Rong WANG ; Ya-Ping LIU ; Bo SONG ; Hua-Yan LIU ; Xiao-Dong XIAO ; Hong TANG ; Yu-Na WANG ; Yin-Sha CAI ; Qi LONG ; Han-Qiang XU ; Hui-Zhan WANG ; Qian SUN ; Fang HAN ; Rui-Biao ZHANG ; Chuan-Zhong YANG ; Lei DOU ; Hui-Ju SHI ; Rui WANG ; Ping JIANG ; Shenzhen Neonatal Data Network
Chinese Journal of Contemporary Pediatrics 2024;26(5):450-455
Objective To investigate the incidence rate,clinical characteristics,and prognosis of neonatal stroke in Shenzhen,China.Methods Led by Shenzhen Children's Hospital,the Shenzhen Neonatal Data Collaboration Network organized 21 institutions to collect 36 cases of neonatal stroke from January 2020 to December 2022.The incidence,clinical characteristics,treatment,and prognosis of neonatal stroke in Shenzhen were analyzed.Results The incidence rate of neonatal stroke in 21 hospitals from 2020 to 2022 was 1/15 137,1/6 060,and 1/7 704,respectively.Ischemic stroke accounted for 75%(27/36);boys accounted for 64%(23/36).Among the 36 neonates,31(86%)had disease onset within 3 days after birth,and 19(53%)had convulsion as the initial presentation.Cerebral MRI showed that 22 neonates(61%)had left cerebral infarction and 13(36%)had basal ganglia infarction.Magnetic resonance angiography was performed for 12 neonates,among whom 9(75%)had involvement of the middle cerebral artery.Electroencephalography was performed for 29 neonates,with sharp waves in 21 neonates(72%)and seizures in 10 neonates(34%).Symptomatic/supportive treatment varied across different hospitals.Neonatal Behavioral Neurological Assessment was performed for 12 neonates(33%,12/36),with a mean score of(32±4)points.The prognosis of 27 neonates was followed up to around 12 months of age,with 44%(12/27)of the neonates having a good prognosis.Conclusions Ischemic stroke is the main type of neonatal stroke,often with convulsions as the initial presentation,involvement of the middle cerebral artery,sharp waves on electroencephalography,and a relatively low neurodevelopment score.Symptomatic/supportive treatment is the main treatment method,and some neonates tend to have a poor prognosis.
2.A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants
Zhanyun JIN ; Junjia GUO ; Yunyun YUAN ; Lingqiang MENG ; Hui LI ; Ya ZHAO ; Jiabao REN ; Yongping MA ; Zun-Sheng XIAO ; Hong ZHANG ; Ling YANG ; Chenyun DOU ; Xiaoxue WANG ; Jinmei WANG ; Wenjing SHEN
West China Journal of Stomatology 2024;42(5):581-592
Objective This study aimed to identify PAX9 variants in non-syndromic tooth agenesis families of Chi-na,as well as to analyze the genotype-phenotype of non-syndromic tooth agenesis caused by PAX9 variants,which can provide a basis for the genetic diagnosis of tooth agenesis.Methods We collected the data of 44 patients with non-syn-dromic oligodontia who underwent treatment at Stomatological Hospital of Hebei Medical University between 2018 and 2023.Whole-exome sequencing was performed on the peripheral blood of the proband and its core family members,and the variants were verified by Sanger sequencing.Pathogenicity analysis and function prediction of the variants were per-formed using bioinformatics tools.The correlation between the genotype of PAX9 variant and its corresponding pheno-type was examined by reviewing 55 publications retrieved from PubMed.The studies involved 232 tooth agenesis pa-tients with PAX9 variants.Results A novel PAX9 c.447delG(p.Pro150Argfs*62)and a reported PAX9 c.406C>T(p.Gln136*)were identified in two Chinese families.Through bioinformatics analysis and three-dimensional structural mod-eling,we postulated that the frameshift variant was pathogenic.The outcome was the premature cessation of PAX9 pro-tein,which caused severe structural and functional deficiencies.Summarizing the PAX9 genotype-phenotype relationship revealed that patients carrying the PAX9 variant commonly led to loss of the second molars.Conclusion We identified the novel PAX9 c.447delG(p.Pro150Argfs*62)in a Chinese family of non-syndromic oligodontia,expanding the known variant spectrum of PAX9.The most susceptible tooth position for PAX9 variants of tooth agenesis was the second mo-lars and the deciduous molars during the deciduous dentition.
3.Mechanism of Hematopoietic Reconstruction in Mice Treated with Danggui Buxue Decoction combined with Muscle-Derived Stem Cell Transplantation.
Hao-Ying DOU ; Ya-Ge DU ; Yuan-Hao HAN ; Yuan-Yuan WANG ; Xiao-Ling WANG ; Tao WANG
Journal of Experimental Hematology 2020;28(4):1177-1182
OBJECTIVE:
To investigate the mechanism of hematopoietic reconstruction in mice treated with Danggui Buxue Decoction (DBD) combined with the muscle-derived stem cell transplantation (MDSCT).
METHODS:
Female Kunming mice were randomly divided into the 6 groups: irradiation model, the bone marrow transplantation, the MDSC transplantation, the DBD 1 (4.5 g/kg), 2 (13.5 g/kg), and 3 (22.5 g/kg) + MDSC transplantation. After a week of oral administration of normal saline or different doses of DBD, The mice were exposied to 8 Gy Cs γ ray and were followed by bone marrow or MDSC transplantation. The expression levels of Notch1, Jagged1 and Hes1 in bone marrow, thymus and spleen were measured at 3 and 8 weeks after irradiation and transplantation.
RESULTS:
In the bone marrow, 3 weeks after above-mentioned treatment, the expression of Notch1 mRNA increased obviously and the expression of Jagged1, Hes1 mRNA decreased obviously in each intervention group, compared with the irradiation model group. 8th week after treatment, the expression of Notch1 mRNA decreased obviously in each intervention group, the Jagged1 mRNA expression decreased obviously except the bone marrow group, and Hes1 mRNA expression increased (P<0.05) in each intervention group. 3 weeks after treatment, compared with the irradiation model group, the expression of Notch1 mRNA in the thymocytes increased only in DBD1+MDSC group, Jagged1, Hes1 mRNA was increased in the MDSC transplantation group and the DBD1、2+MDSC group. 8th week after treatment, the expression of Notch1, Jagged1 mRNA expression decreased in each intervention group, the expression of Hes1 mRNA increased obviously in the MDSC transplantation group and the DBD1、2+MDSC group (P<0.05). In the spleen, 3 weeks after treatment, the expression of Notch1, Jagged1 mRNA in the spleen of each intervention group decreased obviously, compared with the irradiation model group. The expression of Jagged1, Hes1 mRNA in each intervention group were increased obviously 8th week after treatment (P<0.05).
CONCLUSION
MDSC transplantation after pretreatment of DBD can improve the hematopoietic reconstitution in mice with lethal dose radiation damage. Notch1、Jagged1 and Hes1 play different roles in this process, but the concrete mechanism needs to be further studied.
Animals
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Drugs, Chinese Herbal
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Female
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Hematopoietic Stem Cell Transplantation
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Hematopoietic System
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Mice
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Spleen
4.Advance in Risk Assessment Tools for Pressure Injury of Patients with Spinal Cord Injury
Ya-bin ZHANG ; Ling GOU ; Chun-yan HAN ; Ju-hong PEI ; Cun ZHAO ; Xin-man DOU
Chinese Journal of Rehabilitation Theory and Practice 2020;26(10):1142-1146
Spinal cord injury (SCI) is a common traumatic disease. Patients with limited mobility are prone to pressure injuries, which seriously affect the patient's rehabilitation process. The use of risk assessment scale can effectively predict the occurrence of pressure injuries. This article reviewed the pathogenesis, risk factors, and use of different risk assessment tools for patients with spinal cord injury, compared the content, assessment methods, applicable population, reliability and validity of each risk assessment scale, summarized the advantages and disadvantages of different assessment scales, and provided reference to choose the best risk assessment tool.
5.Aspiration Screening Tools after Stroke: A Systematic Review
Chun-yan HAN ; Cun ZHAO ; Xing-lei WANG ; Ya-bin ZHANG ; Ling GOU ; Ju-hong PEI ; Jin-hui TIAN ; Xin-man DOU
Chinese Journal of Rehabilitation Theory and Practice 2020;26(9):1052-1060
Objective:To systematically review the relevant researches on aspiration screening tools for stroke patients. Methods:Literatures aboute stroke aspiration screening tools till December, 2018 were recalled from PubMed, Cochrane Library, Web of Science, EMbase, CNKI, Wanfang Database and China Biomedical Literature Database. Two researchers independently screened the literatures and extracted the basic information, such as the content, screening format, scoring standard and measurement characteristics. Results:A total of 25 studies were included, involving ten aspiration screening tools. The content, screening format, scoring standard and measurement characteristics of the aspiration screening tools were analysed. There was no evidence to support the tools. Conclusion:Tools would be selected according to the patient's condition, age and swallowing related characteristics.
6.Bone Metabolic Markers in Patients with Obstructive Sleep Apnea Syndrome.
Yan QIAO ; Bei WANG ; Jiao-Jiao YANG ; Yan-Feng FAN ; Qian GUO ; Zhan-Jun DOU ; Ya-Qiong HUANG ; Ting-Ting FENG ; Shu-Juan WANG ; Dong-Dong AN ; Xiao-Ling GAO
Chinese Medical Journal 2018;131(16):1898-1903
Background:
Obstructive sleep apnea syndrome (OSAS) is prevalent in obesity and is associated with many metabolic abnormalities. The relationship between OSAS and bone metabolism is still unclear. The aim of this study was to investigate the relationship between the severity of OSAS and bone metabolic markers.
Methods:
A total of 119 obese males were enrolled in this study in spring months from 2015 to 2017. All candidates underwent polysomnography, and their bone mineral density (BMD) and the serum levels of total procollagen type 1 N-terminal propeptide (t-P1NP), N-terminal midfragment of osteocalcin (N-MID), β-C-terminal telopeptide of type 1 collagen (β-CTX), vitamin D (VD), and parathyroid hormone (PTH) were measured. The analysis of variance and Pearson correlation analysis were performed for data analyses.
Results:
No significant differences in the mean values of BMD were observed among the obesity, mild-to-moderate OSAS, and severe OSAS groups; and the serum levels of t-P1NP and β-CTX in the severe OSAS group were significantly higher than those in the obesity group (48.42 ± 23.78 ng/ml vs. 31.98 ± 9.85 ng/ml, P < 0.001; 0.53 ± 0.24 ng/ml vs. 0.41 ± 0.13 ng/ml, P = 0.011, respectively). The serum level of VD in the obesity group was significantly higher than those in the mild-to-moderate and severe OSAS groups (both P < 0.001), and decreased as the severity of OSAS increased (P < 0.001). The serum level of PTH in the severe OSAS group was significantly higher than those in the obesity and mild-to-moderate OSAS groups (both P < 0.001). The results of correlation analysis indicated that the level of apnea-hypopnea index (AHI) was correlated with the levels of t-P1NP (r = 0.396, P < 0.001), VD (r = -0.404, P < 0.001), and PTH (r = 0.400, P < 0.001), whereas the level of minimum Osaturation (SaOmin) was correlated with the levels of VD (r = 0.258, P = 0.016) and PTH (r = -0.376, P < 0.001).
Conclusions
The levels of bone resorption and formation markers in patients with severe OSAS were significantly increased compared to obese men, and the severity of OSAS was correlated with the serum levels of t-P1NP, VD, and PTH.
Biomarkers
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blood
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Bone Density
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Bone and Bones
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metabolism
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Humans
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Male
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Middle Aged
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Obesity
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complications
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Parathyroid Hormone
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Polysomnography
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Sleep Apnea, Obstructive
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complications
7.Infection Status of Human Papilloma Virus,Ureaplasma Urealyticum, Chlamydia Trachomatis,and Neisseria Gonorrhoeae.
Rui ZHANG ; Yan Li ZHOU ; Ya Ling DOU ; Ling Jun KONG ; A Li YE ; Jie WU ; Ying Chun XU
Acta Academiae Medicinae Sinicae 2018;40(6):817-821
Objective To analyze the infection status of human papilloma virus (HPV),Ureaplasma urealyticum (UU),Chlamydia trachomatis (CT),and Neisseria gonorrhoeae (NG) in clinical patients.Methods The laboratory specimens including urine,urethral swabs,and cervical swabs from 870 patients from January 1st 2014 to December 31st 2017 were retrospectively analyzed. HPV-DNA was detected by multiplex fluorescent PCR,and the UU-RNA,CT-RNA,and NG-RNA were determined by isothermal nucleic acid amplification. The positive rate of each pathogen and the distribution of positive rate between male and female patients were calculated. The samples were further divided into HPV-positive group and HPV-negative group,and the positive rates of UU-RNA,CT-RNA,and NG-RNA in these two groups were compared.Results The highest positive rate was 53.68%(467/870) for UU-RNA,followed by HPV-DNA [32.41%(282/870) ]and NG-RNA [2.18%(19/870)]. The total positive rate of high-risk (HR)-HPV(subtypes:16,18,31,33,35,39,45,51,52,56,58,59,and 68) [31.52%(209/663)]and UU in female patients [60.93%(404/663)] was significantly higher than that in male patients [17.39%(36/207),30.34%(63/207)](both P<0.001). The male patients had significantly higher CT positive rate in HR-HPV-positive group than in HR-HPV-negative group [22.58%(7/31) vs. 4.54%(8/176)](P<0.001). The female patients had significantly higher CT positive rate in HR-HPV-positive group than in HR-HPV-negative group [10.5%(21/200) vs. 5.61%(26/463)](P=0.024). The UU-RNA positive rate of females in the low-risk (LR)-HPV (subtypes:6 and 11) positive group was significantly higher than that in LR-HPV negative group [70.83%(34/48) vs.2.11%(13/615)](P<0.001).Conclusions Women are more susceptible to HR-HPV and UU infections. HR-HPV-positive patients are more likely to experience CT infection. In contrast,co-infection with UU is more common in LR-HPV-positive females.
Chlamydia Infections
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diagnosis
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epidemiology
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Chlamydia trachomatis
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isolation & purification
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Female
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Gonorrhea
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diagnosis
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epidemiology
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Humans
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Male
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Neisseria gonorrhoeae
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isolation & purification
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Papillomaviridae
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isolation & purification
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Papillomavirus Infections
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diagnosis
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epidemiology
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Retrospective Studies
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Ureaplasma Infections
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diagnosis
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epidemiology
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Ureaplasma urealyticum
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isolation & purification
8.Infection Modes and Subtypes of Human Papilloma Virus in Patients.
Rui ZHANG ; Xin-Xing BI ; Ali YE ; Ling-Jun KONG ; Ya-Ling DOU
Acta Academiae Medicinae Sinicae 2017;39(4):506-510
Objective To investigate the prevalence of human papilloma virus(HPV)subtypes in patients and to provide an evidence for the prevention and treatment of HPV infection and the development of HPV vaccine. Methods Multiplex PCR was used to detect HPV DNA in 6917 patients in Peking Union Medical College Hospital from January 1,2013 to June 30,2015.Totally 5586 patients entered the final analysis after the repeat samples were deleted.The total positive rate of HPV subtypes(including high-risk subtypes including HPV-16,18,31,33,35,39,45,51,52,56,58,59,and 68 and low-risk subtypes including HPV-6 and 11)and the infection status of different age were analyzed. Results The total positive rate of HPV was 36.29%(2027/5586).The positive rate of high-risk subtype was 24.92%(1392/5586)and low-risk subtype was 1.66%(93/5586).The positive rate of multiple was 9.70%(542/5586)and multiple high-risk subtype was 7.75%(433/5586).The positive rate of high-risk subtype and multiple were 25.52%(1366/5353)and 11.16%(26/233)in female and 9.99%(535/5353)and 3.00%(7/233)in male,there were significantly difference(χ=24.61,χ=12.45,all P<0.001).The positive rate of low-risk subtypes(3.86%,9/233)in males was significantly higher than that in females(1.57%,84/5353)(χ=5.84,P=0.007).The high-risk HPV subtype infection mainly was seen in patients aged 31-50 years and the low-risk HPV subtype infection mainly in patients aged 21-40 years.The age of multiple HPV infections from 31-40 years.The lowest turn negative rates of subtype were HPV52 and HPV58.The top three HPV subtypes with the highest positive rates were HPV52,HPV16,and HPV58.Conclusions The positive rates of HPV type are different between male and female patients.The males are mainly infected with low-risk subtypes,whereas the females with high-risk subtypes and the multiple HPV subtypes.The top three high-risk subtypes are HPV-52,16,and 58.HPV subtypes with the lowest secondary negative rates are HPV-52 and 58.HPV infection is mainly seen in young individuals.
9.Feasibility of Detection Three Kinds of Sexually Transmitted Pathogenby MGX Automatic Nucleic Acid Extraction Workstation
Rui ZHANG ; li A YE ; jun Ling KONG ; ling Ya DOU ; Jie YI
Journal of Modern Laboratory Medicine 2017;32(6):142-144
Objective To verify the feasibility of Chlamydia trachomatis(CT),Neisseria gonorrhoeae(NG),Ureaplasma urealyticum(UU)detection by automatic nucleic acid extraction workstation(MagX).Methods The test samples of CT (159),NG(128)and UU(144)were collected.The samples were extracted of nucleic acid two methods:manual extraction, which entailed manually preparing PCR reaction system and MagX automatic nucleic acid extraction workstation,which au-tomatically prepared the reaction system.The two parts of nucleic acids proceeded to the Simultaneous Amplification and Testing(SAT).The result of manual extraction was set as the golden standard and the Kappa consistency analysis was con-ducted.Meanwhile,the sensitivity,specificity,accuracy and carry pollution experiments of MagX were verified.Results The sensitivity of MagX automatic nucleic acids extraction workstation were 92.59%(CT),100.00%(NG)and 93.33%(UU).The specificity were 98.48%(CT),98.18%(NG)and 95.24%(UU).The accuracy were 97.48%(CT),98.44%(NG)and 94.44%(UU).The results of kappa consistency analysis were greater than 0.8(CT:Kappa=0.910 6,NG:Kap-pa=0.938 3,UU:Kappa=0.885 6).MagX detected the precision of CT,NG and UU:Coefficient of Variation(CV)<5%. There was no pollution phenomenon.Conclusion MagX automatic nucleic acids extraction workstation could be used to test three kinds of sexually transmitted pathogen in clinical settings.
10.Evaluation of Real-time PCR and Gomori-Methenamine Silver Stain for Diagnosing of Pneumocystis Pneumonia
jing Wen LIU ; Jie YI ; ling Ya DOU ; li Xiu XIE ; yin Zheng LIU ; chun Ying XU
Journal of Modern Laboratory Medicine 2017;32(5):28-31
Objective To compare real-time PCR and gomori-methenamine silver stain in the diagnosis of pneumocystis peumonia (PCP).Methods 2 525 unrepeated specimens from suspected PCP patient admitted in Peaking Union Medical College Hospital were collected in 2014.2 492 samples were detected by gomori-methenamine silver stain,33 samples were detected by real-time PCR,and 429 samples were detected by both methods at the meanwhile.With clinical diagnosis as reference standard,the sensitivity,specificity,positive predictive value and negative predictive value of the two methods were analysised.Results Positive rate of gomori-methenamine silver stain was 1.2 % (30/2 492).The first three specimen types were sputum,tracheal intubation suction and bronchoalveolar lavage fluid,the positive rate was 0.70 % (13/1 845),4.00% (10/250) and 2.72% (7/257) respectively.Positive rate of realtime PCR was 34.20% (158/462),and the positive rate of sputum and bronchoalveolar lavage fluid was 30.61% (105/343) and 44.54% (53/119) respectively.The sensitivity were 13.97% vs 72.07%,specificity were 100% vs 94.24%,positive predictive value were 100% vs 92.14% and negative predictive value were 55.36% vs 78.26% for gomori-methenamine silver stain and real-time PCR respectively.All of which were statistically significant analysed by x2 test for paired data.The x2 value and P alue were x2 =68.625,P<0.01;x2 =4.296,P<0.05;x2 =6.380,P<0.01 and x2 =11.873,P<0.01.Conclusion The real-time PCR had higher sensitivity,fewer interference factors and more clinical diagnostic value,so clinicians should make more use of real-time PCR to diagnose PCP earlier.

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