1.Current awareness and optimization recommendations regarding the pneumonia with unknown etiology surveillance system among healthcare professionals in Shanghai
Qiwen FANG ; Chenyan JIANG ; Xin CHEN ; Huanyu WU ; Bihong JIN ; Xiaohuan GONG ; Shenghua MAO ; Qi QIU ; Ruobing HAN ; Huilin SHI ; Wenbin DONG ; Xin HU ; Jian CHEN ; Yaxu ZHENG
Shanghai Journal of Preventive Medicine 2026;38(6):482-487
ObjectiveTo investigate the current awareness and optimization recommendations on pneumonia with unknown etiology (PUE) surveillance among Shanghai healthcare professionals, and to provide evidence for the improvement of the surveillance system. MethodsIn December 2024, healthcare professional participants from diverse medical and health institutions were randomly selected within each stratum using a stratified cluster sampling method in all 16 districts of Shanghai for questionnaire surveys on their knowledge and suggestions for optimization of the PUE surveillance system. Descriptive statistics analyses, multivariate logistic regressions, and content analyses were used for data analyses. ResultsA total of 385 survey subjects were involved in the study, including 119 professional staffs from disease prevention and control centers and 266 from medical institutions. Those who understood the case definition for PUE correctly accounted for 67.01% (258/385). Multivariate regression model analyses showed that female gender (aOR=2.22, 95%CI: 1.36‒3.66), professionals from disease control institutions (aOR=2.02, 95%CI: 1.12‒3.72), and those who self-assessed as being familiar with the monitoring system (aOR=2.18, 95%CI:1.23‒3.89) had better understanding of the definition. Overall, 89.61% (345/385) of the survey subjects acknowledged the necessity of the surveillance system. Small number of cases meeting the case definition (54.46%, 214/379), insufficient diagnostic awareness (39.84%, 151/379), and lack of incentives for case reporting (29.29%, 111/379) were major problems for the current surveillance system, with variations observed across different types of institutions. Suggested segments for optimizing the surveillance system included monitoring purpose, case definition, form of monitoring and reporting procedure, organization mechanism, and epidemiological investigation and response. ConclusionThe necessity of PUE surveillance is commonly recognized among healthcare workers. However, the existing system falls short in terms of mastery of case definition and overall surveillance adaptability. There is an urgent need for optimization and improvement to enhance the capacity for preventing and controlling emerging and sudden respiratory infectious diseases.
2.Guideline for the diagnosis and treatment of vertebral refracture after percutaneous vertebral augmentation in elderly patients with osteoporotic thoracolumbar compression fractures (version 2025)
Yong YANG ; Xiaoguang ZHOU ; Qixin CHEN ; Jian CHEN ; Jian DONG ; Liangjie DU ; Shunwu FAN ; Jin FAN ; Zhong FANG ; Haoyu FENG ; Shiqing FENG ; Haishan GUAN ; Aiguo GAO ; Yanzheng GAO ; Yong HAI ; Da HE ; Dengwei HE ; Haiyi HE ; Dianming JIANG ; Xuewen KANG ; Bin LIN ; Baoge LIU ; Changqing LI ; Fang LI ; Li LI ; Fangcai LI ; Weishi LI ; Xiaoguang LIU ; Hongjian LIU ; Xinyu LIU ; Yong LIU ; Zhongjun LIU ; Shibao LU ; Xuhua LU ; Fei LUO ; Yuhai MA ; Keya MAO ; Xuexiao MA ; Bin MENG ; Xu NING ; Limin RONG ; Hongxun SANG ; Jun SHU ; Tiansheng SUN ; Dasheng TIAN ; Zheng WANG ; Bing WANG ; Linfeng WANG ; Qingde WANG ; Qinghe WANG ; Lan WEI ; Jigong WU ; Baoshan XU ; Youjia XU ; Guoyong YIN ; Jinglong YAN ; Feng YAN ; Cao YANG ; Huilin YANG ; Qiang YANG ; Bin ZHAO ; Jie ZHAO ; Yue ZHU ; Jianguo ZHANG ; Wenzhi ZHANG ; Zhongmin ZHANG ; Zhaomin ZHENG ; Yan ZENG ; Baorong HE ; Wei MEI
Chinese Journal of Trauma 2025;41(7):613-626
Vertebral refracture following percutaneous vertebral augmentation (PVA) is commonly seen in elderly patients with osteoporotic thoracolumbar compression fractures (OTLCF). It can lead to recurrent pain, loss of vertebral height, progression of kyphosis, and even neurological dysfunction, significantly impairing patients′ quality of life. Current diagnosis and treatment face multiple challenges, including high misdiagnosis rate, difficulty in choosing between surgical and non-surgical treatment options, lack of standardized surgical protocols, interference from intralesional bone cement during procedures, inadequate stability of internal fixation in osteoporotic bone, and suboptimal compliance of anti-osteoporotic therapy. Establishing a standardized diagnostic and therapeutic framework is urgently needed. To standardize the management process and improve outcomes for vertebral refractures after PVA in elderly OTLCF patients, Spinal Trauma Group of the Orthopedic Branch of Chinese Medical Doctor Association organized experts in the field to develop Guideline for the diagnosis and treatment of vertebral refracture after percutaneous vertebral augmentation in elderly patients with osteoporotic thoracolumbar compression fractures ( version 2025), based on current literature and clinical experience, and adhering to principles of scientific rigor and clinical applicability. A total of 11 recommendations were proposed, encompassing diagnosis, treatment, and rehabilitation of vertebral refracture after PVA in elderly patients with OTLCF, aiming to provide a foundation for a standardized management.
3.Acute impact of persistent high ambient fine particulate matter exposures on hospital visits for respiratory diseases from 2013 to 2018 in the Beijing-Tianjin-Hebei region and surrounding areas
Yiqi QIU ; Chen CHEN ; Jianan LI ; Yue LIANG ; Changzhen XIANG ; Huiting LING ; Jinxia YANG ; Yu WANG ; Jianlong FANG ; Jiaonan WANG ; Chen MAO ; Xiaoming SHI
Chinese Journal of Epidemiology 2025;46(6):979-985
Objective:To investigate the acute effects of persistent high exposure to atmospheric fine particulate matter (PM 2.5) on residents' outpatient visits for respiratory diseases. Methods:We collected daily outpatient records from 92 hospitals in 13 cities across the Beijing-Tianjin-Hebei region, along with daily PM 2.5, nitrogen dioxide (NO 2), and meteorological data from 2013 to 2018. Five persistent high PM 2.5 exposure scenarios were defined in terms of daily mean PM 2.5 concentrations (>75 μg/m 3 and >150 μg/m 3), duration (≥2 days and ≥3 days), and whether or not there was concurrent exposure to high levels of NO 2 (daily mean NO 2 concentration >50 μg/m 3). A two-stage statistical analysis strategy based on a generalized linear model was applied to conduct a time-series analysis to assess the exposure-response relationship between persistent high PM 2.5 exposure scenarios and residents' outpatient visits for a variety of respiratory diseases, and to estimate excess outpatient visits. Results:During the period, M ( Q1, Q3) PM 2.5 and NO 2 concentrations were 61.2 (42.3, 95.1) μg/m 3 and 40.2 (31.4, 54.4) μg/m 3, respectively, and the daily respiratory disease outpatient visits were 57 (52, 66) cases. When compared with non-permanent high PM 2.5 exposure periods, exposure scenarios with PM 2.5 >75 μg/m 3 and lasting for ≥2 days caused an increased risk of outpatient visits for respiratory diseases by 2.10% (95% CI: 1.44%-2.77%), and resulted in 43 787 (95% CI: 30 025-57 757) excess visits; in this scenario, the concurrent exposure to high levels of NO 2 had a greater acute effect on respiratory disease visits than the absence of exposure to high levels of NO 2 ( P<0.001). The risk of respiratory disease visits increased substantially by 4.41% (95% CI: 3.15%-5.68%) when the daily mean PM 2.5 concentration exceeded 150 μg/m 3 for ≥2 days. Subgroup disease analyses showed that scenarios with daily mean PM 2.5 concentrations exceeding 75 μg/m 3 for ≥3 days caused a significant increase in the risk of lower respiratory tract infections, chronic lower respiratory disease, and asthma visits. Conclusions:Sustained persistent high PM 2.5 exposure increases the risk of outpatient visits for various respiratory diseases; concurrent exposure to high concentrations of NO 2 leads to a greater risk of visiting the clinic, suggesting that the prevention and control of PM 2.5 pollution should be synchronized with the control of mobile source emissions, to synergistically manage the compound pollution of PM 2.5 and NO 2 in the atmosphere.
4.Efficacy of nucleos(t)ide analogues combined with peginterferon α-2b on antiviral therapy in children with chronic hepatitis B
Wenting CHEN ; Shilian LI ; Xiaochen MA ; Fang CHEN ; Lijian RAN ; Yi WU ; Yan GUO ; Yan ZHU ; Qing MAO ; Huimin LIU
Chinese Journal of Experimental and Clinical Virology 2025;39(4):411-418
Objective:To analyze the efficacy of combination of peginterferon α-2b(Peg-IFN α-2b)with nucleos(t)ide analogues(NAs)on antiviral therapy in children with chronic hepatitis B(CHB)and to provide an optimized clinical treatment strategies for CHB children.Methods:A retrospective analysis was conducted on 30 CHB children treated in The First Affiliated Hospital of the Army Medical University(Southwest Hospital)from January 2022 to January 2025 with treatment duration at least 48 weeks. The enrolled children were aged between 2 and 17 years and divided into the NAs combined with Peg-IFN α-2b(NPI)group(n=13)and NAs group(n=17)by their therapy regimens. The characteristics of baseline,week 12,week 24,week 48 and week 96 were compared between groups,as well as the differences in response to biochemical,immune and viral indicators at each observation point. Logistic regression analysis and receiver operating characteristic(ROC)curve analysis were performed to identify factors influencing the HBsAg seroclearance. Results:At baseline of treatment,the proportion of HBeAg positivity in the NPI group and the NAs group was high(76.9% vs 86.6%, χ2=0.679, P=0.628),and the alanine aminotransferase(ALT)and aspartate aminotransferase(AST)in the NPI group were significantly lower than those in the NAs group( P<0.001). At 24 weeks,the decrease in HBsAg in the NPI group was also significantly higher than that in the NAs group( Z=-3.161, P=0.002). Finally,the cumulative seroclearance rate of HBsAg at 96 weeks in the NPI group was significantly higher than that in the NAs group(46.15% vs 5.88%, χ2=0.679, P=0.025). Mulitivariate Logistic regression analysis showed that treatment regimen and gender were risk factors affecting the outcome of HBsAg( P<0.05). ROC curve analysis showed that the increase in ALT at 12 weeks compared with baseline(AUC=0.857,Cutoff value=3.615 IU/L),the decrease in ALT at 24 weeks(AUC=0.870,Cutoff value=47.85 IU/L),and the decrease in HBsAg at 12 weeks and especially at 24 weeks(AUC=0.885,Cutoff value=0.97log IU/ml)were effective predictors of HBsAg prognosis at 96 weeks. Conclusion:In CHB children,antiviral regimen Peg-IFN α-2b combined with NAs was more effective than NAs alone in improving the HBsAg seroclearance rate of CHB,and the effects in female were better than in male. The decline of HBsAg and the fluctuation of ALT in the early treatment period are valid predictors of HBsAg clearance.
5.Efficacy and Safety of Qixian Tongluo Formula in the Treatment of Post-Cerebral Infarction Paralysis with Kidney Deficiency and Blood Stasis Syndrome:A Pragmatic Randomized Controlled Trial and Preliminary Exploration of miRNA Cross-Kingdom Regulation Mechanism
Shengqiang ZHOU ; Yanjun CHEN ; Guo MAO ; Wen ZENG ; Jia HUANG ; Zhixin LI ; Jintao XIAO ; Ruizhen WANG ; Lingjuan TAN ; Fang LIU
World Science and Technology-Modernization of Traditional Chinese Medicine 2025;27(4):1120-1130
Objective To evaluate the efficacy and safety of Qixian Tongluo Formula in the treatment of post-cerebral infarction paralysis with kidney deficiency and blood stasis syndrome,and to preliminarily explore the molecular mechanism of Qixian Tongluo Formula in improving impaired motor function from the perspective of cross-kingdom regulation of Chinese medicine microRNA(miRNA).Methods A pragmatic randomized controlled trial was conducted with 102 patients in the recovery period of post-cerebral infarction paralysis with kidney deficiency and blood stasis syndrome in our hospital.Patients were randomly divided into trial group and control group,with 51 cases in each group.The control group received standard Western medicine standard treatment,while the trial group received Qixian Tongluo Formula in addition to the standard treatment,with one dose per day,boiled in water,and taken warm after breakfast and dinner for a course of 2 months.The disability rate was used as the main efficacy indicator,and the incidence of adverse reactions was used as a safety indicator.miRNA from patient serum and Qixian Tongluo decoction were extracted respectively,and high-throughput sequencing was performed.The two sequences were compared to screen out the cross-kingdom gene transfer of Chinese medicine miRNA.Finally,its target genes of miRNA were predicted,and GO function and KEGG pathway enrichment analysis were carried out.Results A total of 67 patients completed the clinical trial,including 36 cases in the trial group and 31 cases in the control group;The disability rate in the trial group(13.9%)was lower than that in the control group(35.5%)(P<0.05);The incidence of adverse reactions was similar between the trial group(7.69%)and the control group(6.06%)(P>0.05);A total of 9530 Qixian Tongluo decoction miRNA sequences were screened,with 150 potentially involved in cross-kingdom gene transfer,including families such as miR-15 and miR-17;According to the target gene prediction of the top 10 miRNAs in cross-kingdom gene transfer of Chinese medicine,345 overlapping target genes were obtained;GO functional enrichment analysis revealed 16 biological processes,7 cellular components,and 2 molecular functions among the top 25 enriched functions,while KEGG pathway analysis mainly focused on the transforming growth factor-βsignaling pathway,neurotrophin signaling pathway,which are closely related to neural repair and functional recovery processes such as glial scar formation and synaptic plasticity after cerebral ischemia.Conclusion Qixian Tongluo Formula can significantly improve the functional independence level of patients with kidney deficiency and blood stasis syndrome in the recovery period of paralysis after cerebral infarction,offering a safe and effective treatment option for these patients;There were a large number of miRNAs in Qixian Tongluo decoction,some of which could cross-kingdom transferred into the human blood circulation,and promote the recovery of motor function in patients with cerebral infarction through multi-target,multi link and multi pathway gene network regulation.This study provides a new idea for subsequent clinical and basic research.
6.A study on brain iron status in sensorimotor cortex and its correlation with functional connectivity of brain in patients with chronic low back pain using MRI
Yuxiao DING ; Kaidong CHEN ; Haixia MAO ; Xuefang LU ; Jiayi YANG ; Liujia LU ; Peng YUAN ; Xiangming FANG
Chinese Journal of Radiology 2025;59(12):1393-1400
Objective:To investigate the brain iron status in the sensorimotor cortex of patients with chronic low back pain (CLBP) and its relationship with changes in resting-state functional connectivity (RS-FC).Methods:This was a cross-sectional study. Thirty-two patients with CLBP (CLBP group) who were treated at Wuxi People′s Hospital Affiliated to Nanjing Medical University from July 2023 to March 2024 and 30 age-and gender-matched healthy volunteers (control group) were prospectively included. All subjects underwent pain and neuropsychological assessments and head MRI examinations, including conventional sequences, quantitative susceptibility mapping (QSM), and blood oxygen level-dependent (BOLD) functional MRI. QSM values of the sensorimotor cortex and the left middle frontal gyrus, right inferior temporal gyrus, right olfactory cortex, and right posterior cingulate gyrus were extracted using the ANTs toolkit. The bilateral postcentral gyrus and posterior portion of the bilateral precentral gyrus in the sensorimotor cortex were selected as seed points using SPM software to extract the average time series of BOLD signals and evaluate the changes in RS-FC values with other brain regions. Two-sample t-tests were used to compare the differences in QSM values and RS-FC values between the two groups. Pearson correlation analysis was used to analyze the correlation between iron deposition in key brain regions and RS-FC values and clinical scale scores. Results:The QSM values in the posterior portion of the bilateral precentral gyrus and the left postcentral gyrus in the CLBP group were significantly higher than those in the control group ( t=2.17, P=0.009; t=4.44, P<0.001), and the QSM value in the left postcentral gyrus was positively correlated with pain-related scale scores ( P<0.05). Compared with the control group, the QSM values in the left orbital part of the middle frontal gyrus ( t=2.22, P=0.031) and the right inferior temporal gyrus ( t=2.98, P=0.004) were increased, while the QSM values in the right olfactory cortex ( t=2.54, P=0.014) and the right posterior cingulate gyrus ( t=2.70, P=0.009) were decreased in the CLBP group. Compared with the control group, the RS-FC values between the left postcentral gyrus, the posterior part of the bilateral precentral gyrus, and the left superior frontal gyrus were increased in the CLBP group ( P<0.001), the RS-FC value between the right postcentral gyrus and the right precuneus was increased ( P<0.001). The RS-FC of the bilateral motor cortex and the left dorsolateral superior frontal gyrus was positively correlated with the QSM values of the bilateral motor cortex ( r=0.444, P=0.015). Conclusion:Iron deposition in the sensorimotor cortex (posterior portion of the bilateral precentral gyrus and the left postcentral gyrus) is increased in CLBP patients and is correlated with abnormal functional connectivity within and between brain regions.
7.Real world study on antiviral efficacy and safety in patients with normal ALT chronic hepatitis B
Jing WANG ; Jiaqi WANG ; Fang CHEN ; Jie XIA ; Lufeng LI ; Qing MAO
Chongqing Medicine 2025;54(1):138-141
Objective To study the efficacy and safety of antiviral therapy in the patients with normal ALT chronic hepatitis B(CHB).Methods The clinical data of the patients with normal ALT CHB visiting in this hospital from December 2019 to December 2023 were collected.The patients were divided into the low vi-ral load group(HBV DNA<2×106 IU/mL,n=76)and high viral load group(HBV DNA≥2×106 IU/mL,n=10).ETV,TDF and TAF were adopted to conduct the single drug antivirus therapy.The basic informa-tion,demographic characteristics,HBV DNA levels in initial treatment and after 12,24,36,48 weeks of treat-ment,estimated glomerular filtration rate(eGFR)were collected.The rate of complete virological response(CVR)at each time point conducted the statistics for evaluating the effect.The drug safety was evaluated by the eGFR level in 48 weeks of treatment.Results The CVR rates in 12,24,36 weeks of treatment in the low viral load group were 81.6%,94.7%,100.0%and 100.0%respectively,which in the high viral load group were 40.0%,80.0%,80.0%and 80.0%respectively.There was no significant change in eGFR level(109.41±170.57)mL·min-1·1.73 m-2 at 48 weeks of treatment compared with baseline(108.47±110.83)mL·min-1·1.73 m-2(P>0.05).The ALT and creatinine levels during the treatment process in all the patients were not increased.There was no case of drug withdrawal and drug change due to the drug side effects.Conclusion The overall efficacy and safety of ETV,TDF and TAF monotherapy are good in CHB pa-tients with a family history of cirrhosis or liver cancer and normal ALT.The patients with high viral load at baseline are less likely to achieve CVR in 48 weeks of treatment.
8.Expert consensus on orthodontic treatment of protrusive facial deformities.
Jie PAN ; Yun LU ; Anqi LIU ; Xuedong WANG ; Yu WANG ; Shiqiang GONG ; Bing FANG ; Hong HE ; Yuxing BAI ; Lin WANG ; Zuolin JIN ; Weiran LI ; Lili CHEN ; Min HU ; Jinlin SONG ; Yang CAO ; Jun WANG ; Jin FANG ; Jiejun SHI ; Yuxia HOU ; Xudong WANG ; Jing MAO ; Chenchen ZHOU ; Yan LIU ; Yuehua LIU
International Journal of Oral Science 2025;17(1):5-5
Protrusive facial deformities, characterized by the forward displacement of the teeth and/or jaws beyond the normal range, affect a considerable portion of the population. The manifestations and morphological mechanisms of protrusive facial deformities are complex and diverse, requiring orthodontists to possess a high level of theoretical knowledge and practical experience in the relevant orthodontic field. To further optimize the correction of protrusive facial deformities, this consensus proposes that the morphological mechanisms and diagnosis of protrusive facial deformities should be analyzed and judged from multiple dimensions and factors to accurately formulate treatment plans. It emphasizes the use of orthodontic strategies, including jaw growth modification, tooth extraction or non-extraction for anterior teeth retraction, and maxillofacial vertical control. These strategies aim to reduce anterior teeth and lip protrusion, increase chin prominence, harmonize nasolabial and chin-lip relationships, and improve the facial profile of patients with protrusive facial deformities. For severe skeletal protrusive facial deformities, orthodontic-orthognathic combined treatment may be suggested. This consensus summarizes the theoretical knowledge and clinical experience of numerous renowned oral experts nationwide, offering reference strategies for the correction of protrusive facial deformities.
Humans
;
Orthodontics, Corrective/methods*
;
Consensus
;
Malocclusion/therapy*
;
Patient Care Planning
;
Cephalometry
9.Associations of Genetic Risk and Physical Activity with Incident Chronic Obstructive Pulmonary Disease: A Large Prospective Cohort Study.
Jin YANG ; Xiao Lin WANG ; Wen Fang ZHONG ; Jian GAO ; Huan CHEN ; Pei Liang CHEN ; Qing Mei HUANG ; Yi Xin ZHANG ; Fang Fei YOU ; Chuan LI ; Wei Qi SONG ; Dong SHEN ; Jiao Jiao REN ; Dan LIU ; Zhi Hao LI ; Chen MAO
Biomedical and Environmental Sciences 2025;38(10):1194-1204
OBJECTIVE:
To investigate the relationship between physical activity and genetic risk and their combined effects on the risk of developing chronic obstructive pulmonary disease.
METHODS:
This prospective cohort study included 318,085 biobank participants from the UK. Physical activity was assessed using the short form of the International Physical Activity Questionnaire. The participants were stratified into low-, intermediate-, and high-genetic-risk groups based on their polygenic risk scores. Multivariate Cox regression models and multiplicative interaction analyses were used.
RESULTS:
During a median follow-up period of 13 years, 9,209 participants were diagnosed with chronic obstructive pulmonary disease. For low genetic risk, compared to low physical activity, the hazard ratios ( HRs) for moderate and high physical activity were 0.853 (95% confidence interval [ CI]: 0.748-0.972) and 0.831 (95% CI: 0.727-0.950), respectively. For intermediate genetic risk, the HRs were 0.829 (95% CI: 0.758-0.905) and 0.835 (95% CI: 0.764-0.914), respectively. For participants with high genetic risk, the HRs were 0.809 (95% CI: 0.746-0.877) and 0.818 (95% CI: 0.754-0.888), respectively. A significant interaction was observed between genetic risk and physical activity.
CONCLUSION
Moderate or high levels of physical activity were associated with a lower risk of developing chronic obstructive pulmonary disease across all genetic risk groups, highlighting the need to tailor activity interventions for genetically susceptible individuals.
Humans
;
Pulmonary Disease, Chronic Obstructive/epidemiology*
;
Exercise
;
Male
;
Female
;
Middle Aged
;
Prospective Studies
;
Aged
;
Genetic Predisposition to Disease
;
Risk Factors
;
United Kingdom/epidemiology*
;
Incidence
;
Adult
10.Combined screening of two primary immunodeficiency diseases and spinal muscular atrophy in neonates by multiplex real-time fluorescence quantitative PCR
Chao ZHANG ; Jianbin YANG ; Shiqiang SHANG ; Chi CHEN ; Huaqing MAO ; Xiaolei HUANG ; Fang HONG ; Haixia MIAO ; Hanyi ZHAO ; Rulai YANG
Chinese Journal of Laboratory Medicine 2025;48(2):249-257
Objective:To explore the feasibility of joint screening of the two primary immunodeficiency diseases [severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia(XLA)] and spinal muscular atrophy(SMA) in newborns by multiplex real-time quantitative PCR technology, and to provide evidence for early screening, diagnosis and treatment of children.Methods:Cross-sectional study. From July 2021 to January 2023, a total of 103 240 dry blood spots samples of newborns were collected which were delivered to Neonatal Disease Screening Center of Zhejiang by cold chain transportation. The concentrations of the T cell receptor excision ring (TREC), Kappa deletion of the recombinant excision loop (KREC), and exon 7 deletion of Survival Motor Neuron 1 (SMN1) gene in dry blood spots were simultaneously detected by multiplex real-time fluorescence quantitative PCR, taken ribonuclease P/MRP 30 000 subunits (RPP30) as an internal reference gene. The positive newborns were further diagnosed by other laboratory tests and gene sequencing was taken as gold standard. Children samples from 1 case of SCID, 3 cases of XLA and 2 cases of SMA were used for positive verification. The correlation between detected concentration of TREC/KREC and basic information in newborns were analyzed. The differences among groups for each factor were analyzed.Results:One case of SCID, 2 cases of XLA, 9 cases of SMA and 7 cases of other genetic diseases (4 cases of DiGeorge syndrome, 1 case of trisomy 21 syndrome, 1 case of Noonan syndrome and 1 case of super male syndrome) were identified by multiplex real-time fluorescence quantitative PCR. The positive predictive values of screening neonatal SCID, XLA and SMA were 2.44% (1/41), 2.78% (2/72) and 9/9 respectively. Taking the samples from clinically diagnosed 1 case of SCID, 3 cases of XLA and 2 cases of SMA as positive validation samples, which were all identified. The detected results of TREC/KREC correlated with time of blood collection, sex, weight, gestational age and delivery mode of newborns, whose r values were 0.162/0.187, 0.066/0.032, 0.045/0.042, ?0.015/?0.088 and 0.014/0.068 respectively (all P<0.05). Conclusions:Relying on current neonatal screening platform in Zhejiang, it is feasible to screen jointly two kinds of primary immunodeficiency diseases and spinal muscular atrophy in newborns by multiple real-time fluorescence quantitative PCR technology.

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