1.Clinical significance of cytokine levels in HBsAg sero-clearance in patients with severe hepatitis B
Xiaomei XIANG ; Xing WAN ; Juan ZHANG ; Jianmei XIAO ; Haoliang WANG ; Dongqing GU ; Guohong DENG
Journal of Army Medical University 2024;46(16):1913-1919
Objective To explore the clinical significance of serum cytokine expression in the hepatitis B surface antigen(HBsAg)sero-clearance in patients with severe hepatitis B.Methods A nested case-control trial was conducted on 14 inpatients with severe hepatitis B admitted in our hospital from 2006 to 2020.Of them,7 patients(aged 36.57±3.15 years)achieved HBsAg sero-clearance within 1 year after the onset of hepatitis B flares(with abrupt rise of ALT level to>5 times the upper limit of normal during HBV infection)and were assigned into HBsAg clearance group,while the other 7 patients(aged 34.14±2.97 years)only obtained HBsAg decreased less than 1 g within 1 year after the onset(HBsAg non-clearance group).Then,multiplex liquid-chip assay based on Luminex xMAP was used to detect the expression levels of 48 cytokines such as IFN-γ and IL-2 in serum samples of these 14 patients.Results The serum levels IFN-γ,IL-2Ra and SDF-1α were significantly lower in the HBsAg clearance group than the HBsAg non-clearance group(P<0.05),but no statistical differences were observed in other 39 cytokines between the 2 groups.And there were 5 cytokines having no mutual expression in both groups.The copy number of HBV DNA was positively correlated with serum HGF(r=0.675,P=0.008)and SDF-1α levels(r=0.587,P=0.027),while negatively with IP-10(r=-0.600,P=0.023)and MIG level(r=-0.640,P=0.014).Meanwhile,a positive correlation was found between HBsAg titer and IL12-p70 level(r=0.593,P=0.025),and a negative correlation between HBsAg titer and TNF-α level(r=-0.609,P=0.021).In addition,the serum total bilirubin level was positively correlated with the expression of SCGF-β(r=0.543,P=0.045).Conclusion Three differentially expressed cytokines and some cytokines related to HBV DNA level and HBsAg titer are found,which may provide new insights into the underlying immunological mechanism of HBV virus clearance caused by hepatitis flares.Meanwhile,it also provides potential biomarkers for HBsAg serological clearance in patients with severe hepatitis B.
2.The role of Huaiqihuang Granules in the long-term management of bronchial asthma in young children: a multicenter real-world study
Huimin WANG ; Jinghui MU ; Chuanhe LIU ; Changshan LIU ; Ying WANG ; Zhiying HAN ; Xin SUN ; Xing CHEN ; Shuhua AN ; Dolikon MUZAPAR ; Aiping LU ; Min WANG ; Yan CHENG ; Xiaomei YIN ; Hanmin LIU ; Hong WANG ; Shan HUA ; Li DONG ; Ying HUANG ; Yi JIANG ; Jianxin XIONG ; Shenggang DING ; Wei WANG ; Shunying ZHAO ; Yuzhi CHEN
Chinese Journal of Applied Clinical Pediatrics 2023;38(4):286-290
Objective:To observe the role of Huaiqihuang Granules (HQ) in the long-term management of bronchial asthma in young children, and the effective effect on concomitant rhinitis.Methods:A prospective real-world multicenter study was conducted in children aged 2-5 years with asthma diagnosed in the outpatient department (from April 2016 to March 2019)who received either inhaled corticosteroid (ICS)/leukotriene receptor antagonist (LTRA)(control group); inhaled ICS/LTRA plus HQ(combination group), or HQ alone(HQ group). All patients were followed up at week 4, 8, 12 after treatment. The number of days with asthma symptoms, the frequency of severe asthma attacks, the level of asthma control, and the days with rhinitis symptoms in the last 4 weeks were recorded. Differences before and after treatment, and those among groups after treatment were compared using Kruskal- Wallis H test or Wilcoxon rank-sum test. Results:A total of 2 234 eligible patients were recruited, and 2 147 cases completed followed-up visits, including 477, 1 374 and 296 cases in the control group, combination group, and HQ group, respectively. After the treatment, all 3 groups showed significant declines in the days with asthma symptoms, frequency of severe asthma attack and the days with rhinitis symptoms (all P<0.01), and the rate of well-controlled asthma increased significantly ( P<0.01). It lasted until the end of follow-up. Among groups, patients in the combination group showed significantly less days of asthma symptoms than those of the other 2 group at week 8 and 12[0(0, 0.9) d vs.0(0, 0.3) d, P<0.05; 0(0, 0.1) d vs. 0(0, 1.0) d, P<0.01]. Patients in the combination group and HQ group showed a significantly lower rate of severe asthma attacks than that of the control group at week 12 [0(0, 1), 0(0, 1), 0(0, 2), all P<0.05]. The well-controlled rate of asthma in the combination group was significantly higher than that of the control group and HQ group at week 8 and 12 (89.6% vs. 85.9% vs.82.1%, H=15.28; 90.9% vs. 84.1% vs. 81.8%, χ2=29.32, all P<0.01). Conclusions:HQ can significantly alleviate symptoms of asthma and rhinitis, severe attack of asthma, and increase the control rate of asthma when used as an additional treatment or used alone.
3.Spatio-temporal aggregation of hemorrhagic fever with renal syndrome in Shandong Province from 2017 to 2020
Qing DUAN ; Yufang XING ; Zengqiang KOU ; Xiaomei ZHANG ; Bo PANG ; Xueying TIAN ; Yuwei ZHANG ; Wenji ZHAI ; Zhiqiang WANG ; Xiaolin JIANG ; Shujun DING
Chinese Journal of Endemiology 2022;41(9):715-721
Objective:To study the epidemiological characteristics and spatio-temporal aggregation of hemorrhagic fever with renal syndrome (HFRS) in Shandong Province, and to provide reference for formulating reasonable prevention and control strategies.Methods:Retrospective analysis was used to collect HFRS surveillance data and confirmed case data in Shandong Province from 2017 to 2020 in the "China Disease Prevention and Control Information System Infectious Disease Surveillance System". Geoda 1.18 software was used for global and local spatial autocorrelation analysis, SaTScan 9.6 software was used for spatio-temporal scanning analysis, and ArcGis 10.7 software was used for map drawing and visual display.Results:A total of 3 753 cases of HFRS were reported in Shandong Province from 2017 to 2020, including 56 deaths. The annual incidence rate was 1.26/100 000, 1.22/100 000, 0.75/100 000 and 0.53/100 000, respectively, with an average annual incidence rate of 0.94/100 000. The incidence of HFRS was obviously seasonal, mainly concentrated in autumn and winter from October to December, accounting for 50.41% (1 892/3 753). The age of onset was mainly 30-59 years old, accounting for 61.68% (2 315/3 753). The male to female ratio was 2.76 ∶ 1.00 (2 756 ∶ 997). The occupation distribution was mainly farmers, accounting for 81.99% (3 077/3 753). The global spatial autocorrelation analysis showed that HFRS showed spatial aggregation areas in each year from 2017 to 2020 (Moran' I = 0.38, 0.33, 0.59, 0.46, Z = 7.47, 7.23, 10.69, 8.66, P < 0.001). The local spatial autocorrelation analysis showed that "high-high" aggregation areas were mainly concentrated in central and southeast of Shandong Province, while "low-low" aggregation areas were mainly concentrated in northwest of Shandong Province. Spatio-temporal scanning analysis revealed 1 type Ⅰ agglomerations and 2 type Ⅱ aggregation areas. The type Ⅰ aggregation areas occurred from October to November 2018, covering 22 counties (districts) of 5 cities in Qingdao, Yantai, Weifang, Weihai and Rizhao. The first type Ⅱ aggregation area occurred from October to November 2017, involving 23 counties (districts) of 8 cities in Jinan, Zibo, Zaozhuang, Weifang, Jining, Tai 'an, Rizhao and Linyi. The second type Ⅱ aggregation area occurred in Jinxiang County, Jining City from February to March 2017. Conclusion:The incidence of HFRS in Shandong Province from 2017 to 2020 has obvious spatio-temporal aggregation, and the hot spots are concentrated in central and southeast of Shandong Province, which should be regarded as a key area for prevention and control of HFRS.
4.Chemotherapy initiation with single-course methotrexate alone or combined with dactinomycin versus multi-course methotrexate for low-risk gestational trophoblastic neoplasia: a multi-centric randomized clinical trial.
Lili CHEN ; Ling XI ; Jie JIANG ; Rutie YIN ; Pengpeng QU ; Xiuqin LI ; Xiaoyun WAN ; Yaxia CHEN ; Dongxiao HU ; Yuyan MAO ; Zimin PAN ; Xiaodong CHENG ; Xinyu WANG ; Qingli LI ; Danhui WENG ; Xi ZHANG ; Hong ZHANG ; Quanhong PING ; Xiaomei LIU ; Xing XIE ; Beihua KONG ; Ding MA ; Weiguo LU
Frontiers of Medicine 2022;16(2):276-284
We aimed to evaluate the effectiveness and safety of single-course initial regimens in patients with low-risk gestational trophoblastic neoplasia (GTN). In this trial (NCT01823315), 276 patients were analyzed. Patients were allocated to three initiated regimens: single-course methotrexate (MTX), single-course MTX + dactinomycin (ACTD), and multi-course MTX (control arm). The primary endpoint was the complete remission (CR) rate by initial drug(s). The primary CR rate was 64.4% with multi-course MTX in the control arm. For the single-course MTX arm, the CR rate was 35.8% by one course; it increased to 59.3% after subsequent multi-course MTX, with non-inferiority to the control (difference -5.1%,95% confidence interval (CI) -19.4% to 9.2%, P = 0.014). After further treatment with multi-course ACTD, the CR rate (93.3%) was similar to that of the control (95.2%, P = 0.577). For the single-course MTX + ACTD arm, the CR rate was 46.7% by one course, which increased to 89.1% after subsequent multi-course, with non-inferiority (difference 24.7%, 95% CI 12.8%-36.6%, P < 0.001) to the control. It was similar to the CR rate by MTX and further ACTD in the control arm (89.1% vs. 95.2%, P =0.135). Four patients experienced recurrence, with no death, during the 2-year follow-up. We demonstrated that chemotherapy initiation with single-course MTX may be an alternative regimen for patients with low-risk GTN.
Antineoplastic Combined Chemotherapy Protocols/adverse effects*
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Dactinomycin/adverse effects*
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Female
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Gestational Trophoblastic Disease/drug therapy*
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Humans
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Methotrexate/therapeutic use*
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Pregnancy
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Retrospective Studies
5.Characteristic analysis of patients with type 2 diabetes mellitus combined with advanced stage chronic liver disease: a community population-based cross-sectional study in Heping District, Shenyang City (CHESS-LN 2101)
Cheng LYU ; Wenli FU ; Ye GU ; Leishi WANG ; Xiaomei WANG ; Xing LIU ; Jiamin QIAN ; Zhu TAO ; Ying CHEN ; Chuan LIU ; Ruiling HE ; Xin GUAN ; Yan WANG ; Yan WANG ; Xiaolong QI
Chinese Journal of Hepatology 2022;30(11):1194-1200
Objective:To investigate the prevalence and independent risk factors of non-alcoholic fatty liver disease (NAFLD) and advanced chronic liver disease among the type 2 diabetes mellitus (T2DM) population in the Shenyang community, so as to provide evidence for the prevention and control of T2DM combined with NAFLD.Methods:This cross-sectional study was conducted in July 2021. 644 T2DM cases from 13 communities in Heping District, Shenyang City were selected. All the surveyed subjects underwent physical examination (measurements of height, body mass index, neck circumference, waist circumference, abdominal circumference, hip circumference, and blood pressure), infection screening (excluding hepatitis B and C, AIDS, and syphilis), random fingertip blood glucose, controlled attenuation parameter (CAP), and liver stiffness measurement (LSM). The study subjects were divided into the non-advanced chronic liver disease group and the advanced chronic liver disease group according to whether the LSM value was greater than 10 kPa. Cirrhotic portal hypertension development was indicated in patients with LSM ≥ 15 kPa. The comparison of multiple mean values among the sample groups was performed by analysis of variance when the normal distribution was met.Results:In the T2DM community population, there were 401 cases (62.27%) combined with NAFLD, 63 cases (9.78%) combined with advanced chronic liver disease, and 14 cases (2.17%) combined with portal hypertension. There were 581 cases in the non-advanced chronic liver disease group and 63 cases (9.78%) in the advanced chronic liver disease group (LSM ≥10 kPa), including 49 cases (7.61%) with 10 kPa≤LSM<15 kPa, 11 cases (1.71%) with 15 kPa ≤LSM<25 kPa, and 3 cases (0.47%) with LSM ≥ 25 kPa. Age, body mass, body mass index, neck circumference, waist circumference, hip circumference, waist-to-height ratio, systolic blood pressure, and CAP were all statistically different between the non-advanced chronic liver disease group and the advanced chronic liver disease group ( F=-1.983,-2.598,-4.091,-2.062,-3.909, -4.581,-4.295,-2.474, and -5.191, respectively; P<0.05). There was a statistically significant difference in terms of whether or not there was combined cerebrovascular disease (2=4.632, P=0.031); however, there were no statistically significant differences in terms of lifestyle, diabetes complications, and other complications ( P>0.05). Conclusion:Patients with T2DM have a higher prevalence of NAFLD (62.27%) than those with advanced chronic liver disease (9.78%). 2.17% of T2DM cases in the community may not have had early diagnosis and early intervention, and they might have been combined with cirrhotic portal hypertension. So, the management of these patients should be strengthened.
6.Clinical characteristics of ureaplasma urealyticum pneumonia in preterm infants with gestational age less than 32 weeks
Hongling WEI ; Yan XING ; Ying ZHOU ; Xiaomei TONG
Chinese Journal of Preventive Medicine 2021;55(2):239-244
Objective:To investigate the clinical characteristics of ureaplasma urealyticum(UU) pneumonia in preterm infants less than 32 weeks.Methods:Preterm infants with gestational age <32 weeks who were hospitalized in neonatal intensive care unit (NICU) of Peking University Third Hospital from January 2018 to December 2019 were retrospectively analyzed. There were 105 premature infants, 63 males and 42 females. After the first diagnosis of pneumonia during hospitalization, the airway secretions were collected for UU nucleic acid detection. They were divided into UU positive group and UU negative group. Perinatal factors, comorbidities, antibiotic treatment and clinical outcomes were compared between the two groups. SPSS24.0 statistical software was used for statistical analysis. T test or chi-square test was used to compare the two groups, and logistic regression was used for multivariate analysis.Results:Among 105 cases of preterm pneumonia, 37 cases (35.2%) were diagnosed with UU pneumonia and 68 cases (64.8%) were negative for UU test. There was no significant difference in gestational age [28(27,30) weeks vs 29(28,30)weeks, Z=-0.98, P>0.05] and birth weight[(1 282.03±292.49)g vs (1 196.62±322.89)g, t=1.34, P>0.05] between the two groups. In UU pneumonia group, the rate of singleton (86.5% vs 50%, χ2=12.15), chorioamnionitis (10.8% vs 1.55%, χ2=4.61), premature rupture of membranes>12 h (32.4% vs 11.8%, χ2=5.37) and vaginal delivery rate(59.5% vs 35.3%, χ2=4.75) were higher than UU negative group ( P<0.05). Further multivariate logistic regression analysis showed that vaginal delivery was an independent risk factor for UU ( OR = 2.694, 95 %CI: 1.113-6.525). WBC count in UU positive group was significantly higher [12.85×10 9/L (9.32×10 9/L,17.22×10 9/L) vs 9.06×10 9/L (7.06×10 9/L,13.37×10 9/L), Z=-3.01, P<0.05], and oxygen consumption time was prolonged[ (46.8±19.8)d vs (37.8±20.7)d, t=2.177, P<0.05]. The incidence of hemodynamically significant patent ductus arteriosus (29.7% vs 57.4%, χ2=6.265) and respiratory distress syndrome (54.1% vs 75.0%, χ2=4.801) in UU positive group was significantly lower than that in UU negative group ( P<0.05). There was no significant difference in bacterial infection(62.2% vs 50.0%, χ2=8.826) and antibiotic(48.6% vs 47.1%, χ2=1.352) between the two groups(all P>0.05). After azithromycin treatment, the time for UU negative was (9.00±3.14) days. There was no significant difference in the incidence of bronchopulmonary dysplasia(73.0% vs 69.1%, χ2=0.036), retinopathy of prematurity(10.8% vs 26.5%, χ2=2.665), neonatal necrotizing enterocolitis(2.7% vs 1.5%, χ2=0.195), intraventricular periventricular hemorrhage (69.4% vs 72.1%, χ2=0.003) and periventricular leukomalacia (8.1% vs 8.8%, χ2=0.016) between the two groups ( P>0.05). Conclusions:If premature rupture of membranes >12 h, combined with chorioamnionitis, and vaginal delivery, preterm infants less than 32 weeks are likely to have an increased risk of UU infection. UU pneumonia in preterm infants less than 32 weeks old was characterized by prolonged oxygen consumption and increased white blood cell count. Oral azithromycin treatment could effectively remove UU and improve prognosis.
7.Levels of human milk oligosaccharides in breast milk of mothers delivering preterm infants of different gestational ages and their effects on early growth and development
Yan XING ; Xue YU ; Jing ZHU ; Yanmei CHANG ; Yanxia YOU ; Zekun CHEN ; Yuqi DOU ; Defu MA ; Xiaomei TONG
Chinese Journal of Preventive Medicine 2021;55(9):1067-1076
Objective:To investigate the human milk oligosaccharides (HMOs) levels in breast milk of mothers delivering preterm infants and their effects on the early growth and development of infants.Methods:In this prospective cohort study, full-term and preterm newborns whose parents decided to breastfeed were recruited from Peking University Third Hospital between December 1, 2017 and November 30, 2018. The preterm infants were divided based on their gestational ages into extremely preterm (<28 weeks), very preterm (28-31 +6 weeks) and moderate to late preterm (32-36 +6 weeks) groups. Breast milk was collected from mothers at 7, 14, 28 and 120d postpartum. 368 breast milk samples were collected from 125 mothers in this study, including 54 mothers of full-term infants, 23 mothers of moderate to late preterm infants, 39 mothers of very preterm infants, and 9 mothers of extremely preterm infants. Ultra-performance liquid chromatography-mass spectrometer (UPLC-MS/MS) was used to determine the concentration of 2′-fucosyllactose (2′FL), 3-fucosyllactose (3FL), 3′-sialyllactose (3′SL), A-tetrasaccharide (P1), lacto-N-tetraose (LNT), lacto-N-neotetraose (LNnT), lacto-N-fucopentaose Ⅱ (LNFP-Ⅱ) and lacto-N-fucopentaose Ⅴ (LNFP-Ⅴ). Secretor status of mothers was defined as 2′-fucosyllactose (2′FL) concentration in colostrum and transitional milk greater than 200 μg/mL. Weight gain and the occurrence of allergic diseases of infants were collected at 120 d(4 months) postpartum. The chi-square test or the Fisher′s exact test was used for the comparison of categorical data between groups; Kruskal-Wallis test and Wilcoxon rank sum test were used for comparison of continuous data between groups. Nemenyi test was used for multiple comparison. Results:79.2% (99/125) of the mothers were secretor. There were no statistical differences between groups in the secretor status of mothers (χ2=1.31, P>0.05). The total concentration of HMOs peaked at 1-2 weeks postpartum. Compared to the preterm milk, the HMOs from the term milk was trending downwards at an earlier time. In the breast milk of secretor mothers on 28 d, total concentration of HMOs significant differed among the three groups of preterm milk and the term milk, with the median value of 4 587.09,4 615.25,5 277.44,5 476.03 μg/mL, respectively (Kruskal-Wallis χ2=8.1234, P=0.044). When analyzed by the median weight gain of the infants (low vs high weight gain) at 4 months postpartum, 2′FL was significantly lower in the high weight gain group at 7 d (1 818.04 μg/mL vs 2 181.67 μg/mL, W=1 386, P=0.018), while LNT & LNnT were significantly higher (1 182.36 μg/mL vs 1 053.62 μg/mL, W=816, P=0.044). The level of 3FL at 120 d was significantly affected by presence of allergic disease in infants, breast milk from mothers of infants with allergic disease had lower 3FL than those from mothers of infants without allergic disease (256.17 μg/mL vs 286.18 μg/mL, W=564, P=0.026). Conclusions:The overall profiles of HMOs in breast milk of mothers delivering preterm infants was basically the same as that of mothers delivering term infants; individual HMOs play a role in weight gain and the development of allergic diseases in preterm infants, but the mechanism is unclear and needs further study.
8.Cardiovascular risk profile and clinical characteristics of diabetic patients: a cross-sectional study in China.
Fang LYU ; Xiaoling CAI ; Chu LIN ; Tianpei HONG ; Xiaomei ZHANG ; Juming LU ; Xiaohui GUO ; Zhufeng WANG ; Huifang XING ; Guizhi ZONG ; Linong JI
Chinese Medical Journal 2021;135(3):295-300
BACKGROUND:
Cardiovascular (CV) disease is the leading cause of morbidity and mortality in adults with type 2 diabetes (T2D). The aim of this study was to determine the CV risk in Chinese patients with T2D based on the 2019 European Society of Cardiology (ESC) and the European Association for the Study of Diabetes (EASD) guidelines on diabetes, pre-diabetes, and CV diseases.
METHODS:
A total of 25,411 patients with T2D, who participated in the study of China Cardiometabolic Registries 3B study, were included in our analysis. We assessed the proportions of patients in each CV risk category according to 2019 ESC/EASD guidelines.
RESULTS:
Based on the 2019 ESC/EASD guidelines, 16,663 (65.6%), 1895 (7.5%), and 152 (0.6%) of patients were included in "very high risk," "high risk," and "moderate risk" categories, respectively. The proportions of patients in each category varied based on age, sex, body mass index, and duration. While 58.7% (9786/16,663) of elderly patients were classified to "very high risk" group, 89.6% (3732/4165) of patients with obesity were divided into "very high risk" group. Almost all patients with a duration of diabetes >10 years had "very high risk" or "high risk." However, 6701 (26.4%) of Chinese T2D patients, who had shorter duration, and one or two risk factors, could not be included in any category (the "unclear risk" category).
CONCLUSIONS
In China, most patients with T2D have "very high" or "high" CV risk based on 2019 ESC/EASD guidelines. However, the risk of patients in "unclear risk" group needs to be further classified.
Adult
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Aged
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Cardiovascular Diseases/epidemiology*
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Cross-Sectional Studies
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Diabetes Mellitus, Type 2
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Heart Disease Risk Factors
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Humans
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Risk Factors
9.Analysis of the influencing factors and the adverse effect of gestational weight gain maternal and infant health in Beijing
Zekun CHEN ; Yan XING ; Xiaomei TONG ; Yanmei CHANG ; Xue YU ; Yuqi DOU ; Defu MA
Chinese Journal of Health Management 2021;15(3):284-289
Objective:To determine the gestational weight gain and its risk factors and adverse effects among pregnant women in Beijing.Methods:Between June 2018 and June 2019, all registered infants and their mothers in a child care center of a third-tier-class hospital in Beijing were selected. A self-made questionnaire was used to collect the basic information of the maternal mothers. Chi-square test and analysis of variance were used to describe the basic characteristics of the study subjects and clarify the harmful effect of gestational weight gain for maternal and infant health. Multiple logistic regression analysis was used to analyze the risk factors of both insufficient and excessive weight gain during pregnancy.Results:A total of 3732 maternal mothers and their babies were included. The average weight gain of maternal mothers during pregnancy was 13.0 kg. The results of this study showed that the proportion of insufficient weight gain during pregnancy was 31.8% and the proportion of excessive weight gain was 24.1%. It was further found that young age, pre-pregnancy body mass index indicating overweight and obesity, primipara, and low education were independent risk factors for excessive weight gain during pregnancy. The risk of excessive weight gain of pre-pregnancy overweight and obesity was 2.40 times ( OR=2.40, 95% CI=1.91-3.03, P<0.001) and 2.90 times higher, respectively, ( OR=2.90, 95% CI=1.59-5.27, P<0.001) when compared with that of pre-pregnancy normal weight. In addition, our results suggested that excessive weight gain significantly increased the risk of macrosomia for the infant and the risk of cesarean section, gestational hypertension, and postpartum weight retention for maternal mothers. Conclusions:Age, pre-pregnancy BMI, primipara, and education level were the influencing factors for gestational weight gain. Considering the serious harmful effects of both insufficient and excessive weight gain for maternal and infant health, weight management during pregnancy should be strengthened for these high-risk populations in the future.
10.Two cases of Cornelia de Lange syndrome type 2 for SMC1A gene mutations
Changjian YANG ; Qingyang DOU ; Xing YUAN ; Xiaomei SHU
Chinese Journal of Applied Clinical Pediatrics 2021;36(10):783-785
The clinical features and gene mutation characteristics of 2 children who suffered from Cornelia de Lange syndrome(CdLs)and were admitted to Affiliated Hospital of Zunyi Medical University in March 2019 were retrospectively analyzed.The 2 cases developed in infancy and presented with intractable epilepsy were accompanied with developmental retardation and special appearance.It was obvious that the 2 children had SMC1A gene mutations on X chromosome.Case 1 was frameshift mutations in the SMC1A gene at c. 2561dupA(p.K854fs), and case 2 was mutations in the SMC1A gene at c. 3441+ 1G>A(exon24)splicing mutation.These were heterozygous de novo mutations, and weren′t detected in their parents, which was not reported in literatures.In this study, 2 cases of CdLs were caused by SMC1A gene mutation, which enriched the human gene mutation database.CdLs should be considered in children with early-onset epilepsy, especially appearance and developmental retardation.Genetic testing is the most important diagnostic method.

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