1.Diagnostic value of prenatal ultrasound screening and analysis of pregnancy outcomes in velamentous umbilical cord insertion
Yu LIANG ; Zhen HAN ; Wei WANG ; Ting YUAN ; Xin DONG ; Xuelan LI
Chinese Journal of Obstetrics and Gynecology 2024;59(10):771-776
Objective:To explore diagnostic value of prenatal ultrasound screening in velamentous umbilical cord insertion (VCI) and its influence on perinatal outcomes, and to provide theoretical basis for clinical practice.Methods:Fifty-eight pregnant women diagnosed with VCI before or after delivery admitted to the First Affiliated Hospital of Xi′an Jiaotong University were selected from January 2012 to December 2022. The clinical features and perinatal outcomes of 45 women finally with VCI after delivery (VCI group) were retrospectively analyzed, and 225 women with normal umbilical cord attachment were selected as the control group during the same period.Results:(1) Among 58 women, 54 (93.1%, 54/58) were diagnosed with VCI by prenatal ultrasound screening, 4 patients (6.9%, 4/58) were missed; and 13 (22.4%, 13/58) were misdiagnosed. Finally, a total of 45 women were confirmed by postpartum placental examination, and 11 (24.4%,11/45) were combined with vasa previa. (2) There were no differences in age, number of pregnancies, and number of induced abortions between the two groups (all P>0.05). Compared with the control group, the rate of assisted reproductive technology [13.3% (6/45) vs 0.4% (1/225); P<0.01], and twin pregnancy rate [8.9% (4/45) vs 0.4% (1/225); P<0.01] in the VCI group were significant higher. (3) Compared with the control group, the rate of placenta previa, succenturiate placenta, vasa previa, postpartum hemorrhage, prenatal hemorrhage and postpartum intrauterine remainder in the VCI group were significant higher (all P<0.05); there was no significant difference in the incidence of placental abruption, premature rupture of membranes, fetal distress and single umbilical artery between the two groups (all P>0.05). The incidence of fetal structural abnormalities in the VCI group (4.4%, 2/45) was higher than that in the control group (1.3%, 3/225), but there was no significant difference between the two groups ( P=0.195). (4) The cesarean section rate [75.0% (33/44) vs 45.1% (101/224); P<0.01], preterm birth rate [29.5% (13/44) vs 5.4% (12/224); P<0.01], rate of small for gestational age [20.5% (9/44) vs 5.4% (12/224); P<0.01] in the VCI group were significant higher. However, neonatal birth weight [(2 928±552) vs (3 353±498) g; P<0.01], and 1-minute Apgar score (median: 10 vs 10; P<0.01) in the VCI group were lower than those in the control group. Conclusions:Prenatal ultrasound screening is an important method to diagnose VCI. VCI is more prone to adverse pregnancy outcomes, such as postpartum hemorrhage, premature delivery, small for gestational age, et al. Its risk factors include twin pregnancy, assisted reproductive technology, placenta previa, and para-placenta.
2.Exploring of Transformation Rule of Saponins in Polygalae Radix Before and After Processing Based on Simulated Processing Technology
Mengjiao HE ; Ziming ZHUANG ; Yue XING ; Haoran LI ; Xuelan ZHANG ; Xin ZHAO
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(24):169-176
ObjectiveTo investigate the transformation mechanism and content variation of saponins from Polygalae Radix before and after being boiled with licorice juice and water. MethodSimulated licorice juice boiled products and simulated water boiled products of onjisaponin B, onjisaponin Z, onjisaponin F, polygalasaponin ⅩⅩⅧ were prepared by simulated processing technology, and analyzed by ultra-performance liquid chromatography-quadrupole-electrostatic field orbitrap high resolution mass spectrometry(UPLC-Q-Exactive Orbitrap/MS). Then the contents of onjisaponin B, onjisaponin Z, onjisaponin F, polygalasaponin ⅩⅩⅧ and tenuifolin in Polygalae Radix, licorice-boiled Polygalae Radix and water-boiled Polygalae Radix were determined by UPLC-triple quadrupole tandem mass spectrometry(UPLC-QQQ-MS/MS). ResultDuring the boiling process with licorice juice and water, onjisaponin B could be hydrolyzed to produce 4-methoxycinnamic acid, desacylsenegin Ⅲ, polygalasaponin ⅩⅩⅧ and tenuifolin, onjisaponin Z could be hydrolyzed to produce 3,4,5-trimethoxycinnamic acid, onjisaponin TF, polygalasaponin ⅩⅩⅧ and tenuifolin, onjisaponin F could be hydrolyzed to produce 3,4,5-trimethoxycinnamic acid, onjisaponin G, polygalasaponin ⅩⅩⅧ and tenuifolin, and polygalasaponin ⅩⅩⅧ was hydrolyzed to produce tenuifolin. After being boiled with licorice juice or water, the content of onjisaponin B decreased significantly(P<0.05, P<0.01), but the contents of onjisaponin Z, onjisaponin F, polygalasaponin ⅩⅩⅧ and tenuifolin increased significantly(P<0.05, P<0.01) in Polygalae Radix. Compared with the water-boiled products, the contents of onjisaponin Z and tenuifolin increased significantly(P<0.05, P<0.01), and the change of tenuifolin content was the most significant in the licorice-boiled products.However, there was no significant difference in the content of onjisaponin B, onjisaponin F and polygalasaponin ⅩⅩⅧ between the water-boiled products and the licorice-boiled products. ConclusionBeing boiled with licorice juice or water can hydrolyze onjisaponin B, onjisaponin Z, onjisaponin F and polygalasaponin ⅩⅩⅧ, and generate secondary glycosides and aglycones(organic acids) through deglycosylation, which leads to obvious changes in the contents of onjisaponins after Polygalae Radix being processed.It is inferred that licorice juice can promote the hydrolysis of some onjisaponins in Polygalae Radix to onjisaponin Z and tenuifolin.This study provides an experimental basis for revealing processing mechanism of Polygalae Radix.
3.Prospective cohort study of pre-pregnancy sugar-sweetened beverage consumption and risk of gestational diabetes mellitus
Yahui FAN ; Jinping ZHAO ; Lu DING ; Yunjin PAN ; Lintian LI ; Huixin JI ; Jia SHI ; Sijiao LIU ; Zhaoqing LONG ; Tongqiang HE ; Le MA ; Yang MI ; Weiling LI ; Xuelan LI
Journal of Environmental and Occupational Medicine 2023;40(11):1225-1231
Background There is a lack of research evidence on the association between sugar-sweetened beverage (SSB) consumption and gestational diabetes mellitus (GDM) in China. Objective To explore the association between frequency of SSB consumption before pregnancy and risk of GDM in pregnant women in Shaanxi Province, and to provide a scientific basis for targeted interventions to control maternal blood glucose. Methods The recruitment to the China Birth Cohort study started in October 2020. Pregnant women at 6-16 weeks who had their first prenatal examination at five hospitals in Shaanxi Province were recruited. A maternal health questionnaire was used to collect basic information about pregnant women. A semi-quantitative food frequency questionnaire was used to collect the consumption of carbonated beverages, fruit and vegetable juice beverages, coffee beverages, and milk tea beverages in one year before pregnancy, which were summed to obtain the SSB consumption. Pregnant women were divided into three groups according to SSB consumption, namely <1 serving·week−1, 1-4 servings·week−1, and ≥5 servings·week−1. GDM was confirmed by oral glucose tolerance test (OGTT) between 24-28 weeks of gestation. A binary logistic regression model was applied to explore the association between SSB consumption and risk of GDM. Multiple linear regression was applied to investigate the associations between SSB consumption (per 1-serving·d−1 increase) and OGTT fasting plasma glucose, 1-hour glucose, and 2-hour glucose. Results A total of 3811 pregnant women were finally enrolled in this study, of which 752 developed GDM, with an incidence rate of 19.7%. The incidence rates of GDM in pregnant women with SSB consumption frequency of <1 serving·week−1, 1-4 servings·week−1, and ≥5 servings·week−1 were 18.0%, 21.1%, and 26.8%, respectively. After adjusting for maternal age, pre-pregnancy body mass index (BMI), education, number of children born, family history of diabetes, smoking, alcohol consumption, physical activity level, and total energy intake, the risk of GDM increased by 26% (OR=1.26, 95%CI: 1.05, 1.50) in the 1-4 servings·week−1 group and by 76% (OR=1.76, 95%CI: 1.31, 2.38) in the ≥5 servings·week−1 group compared to the <1 serving·week−1 SSB consumption group, respectively. Further stratified analysis revealed no interaction effect (Pinteraction>0.05) between SSB consumption and maternal age, pre-pregnancy BMI, or first labor or not. For each additional SSB consumption per day, the risk of GDM increased by 94% (OR=1.94, 95%CI: 1.37, 2.75); and the maternal OGTT 1-hour glucose and 2-hour glucose increased by 0.33 mmol·L−1 and 0.18 mmol·L−1, respectively (P<0.05), and no significant increase in fasting plasma glucose was found (P>0.05). Conclusion Higher SSB consumption before pregnancy increases the risk of GDM in pregnant women.
4.Application research of case teaching method based on "Rain Classroom" and standardized patients in the obstetrics and gynecology probation course
Xin DONG ; Zhen LI ; Weihua ZHOU ; Chunfang LI ; Xuelan LI
Chinese Journal of Medical Education Research 2023;22(2):216-220
In view of the problems existing in the probation teaching of obstetrics and gynecology, such as patients' non-cooperation, few cases and few practical opportunities. This study discusses the application effect of case teaching based on "Rain Classroom" and standardized patients in the obstetrics and gynecology probation course. The teaching is carried out by carefully selecting cases, refining pre-class preparation, adopting various teaching forms, and carrying out evaluation after class. In order to evaluate the teaching effect, an anonymous survey was carried out among 330 undergraduate interns majoring in clinical medicine, prevention, and forensic medicine in Batch 2015. The results showed that 210 (93.8%) of 224 (67.9%) students who participated in the survey believed that this method could promote learning enthusiasm and 200 students (89.3%) thought it could activate classroom atmosphere more than traditional teaching; most students thought it improved students' communication ability (163, 72.8%), clinical practice ability (189, 84.4%), and ability to analyze and solve problems (171, 76.3%) and deepening the understanding, mastery and application of knowledge (158, 70.5%). It shows that this method can improve the teaching effect of obstetrics and gynecology probation course to a certain extent.
5.Impact of different diagnostic criteria for assessing mild micro-hepatic encephalopathy in liver cirrhosis: an analysis based on a prospective, multicenter, real-world study
Xiaoyan LI ; Shanghao LIU ; Chuan LIU ; Hongmei ZU ; Xiaoqing GUO ; Huiling XIANG ; Yan HUANG ; Zhaolan YAN ; Yajing LI ; Jia SUN ; Ruixin SONG ; Junqing YAN ; Qing YE ; Fei LIU ; Lei HUANG ; Fanping MENG ; Xiaoning ZHANG ; Shaoqi YANG ; Shengjuan HU ; Jigang RUAN ; Yiling LI ; Ningning WANG ; Huipeng CUI ; Yanmeng WANG ; Chuang LEI ; Qinghai WANG ; Hongling TIAN ; Zhangshu QU ; Min YUAN ; Ruichun SHI ; Xiaoting YANG ; Dan JIN ; Dan SU ; Yijun LIU ; Ying CHEN ; Yuxiang XIA ; Yongzhong LI ; Qiaohua YANG ; Huai LI ; Xuelan ZHAO ; Zemin TIAN ; Hongji YU ; Xiaojuan ZHANG ; Chenxi WU ; Zhijian WU ; Shengqiang LI ; Qian SHEN ; Xuemei LIU ; Jianping HU ; Manqun WU ; Tong DANG ; Jing WANG ; Xianmei MENG ; Haiying WANG ; Zhenyu JIANG ; Yayuan LIU ; Ying LIU ; Suxuan QU ; Hong TAO ; Dongmei YAN ; Jun LIU ; Wei FU ; Jie YU ; Fusheng WANG ; Xiaolong QI ; Junliang FU
Chinese Journal of Hepatology 2023;31(9):961-968
Objective:To compare the differences in the prevalence of mild micro-hepatic encephalopathy (MHE) among patients with cirrhosis by using the psychometric hepatic encephalopathy score (PHES) and the Stroop smartphone application (Encephal App) test.Methods:This prospective, multi-center, real-world study was initiated by the National Clinical Medical Research Center for Infectious Diseases and the Portal Hypertension Alliance and registered with International ClinicalTrials.gov (NCT05140837). 354 cases of cirrhosis were enrolled in 19 hospitals across the country. PHES (including digital connection tests A and B, digital symbol tests, trajectory drawing tests, and serial management tests) and the Stroop test were conducted in all of them. PHES was differentiated using standard diagnostic criteria established by the two studies in China and South Korea. The Stroop test was evaluated based on the criteria of the research and development team. The impact of different diagnostic standards or methods on the incidence of MHE in patients with cirrhosis was analyzed. Data between groups were differentiated using the t-test, Mann-Whitney U test, and χ2 test. A kappa test was used to compare the consistency between groups. Results:After PHES, the prevalence of MHE among 354 cases of cirrhosis was 78.53% and 15.25%, respectively, based on Chinese research standards and Korean research normal value standards. However, the prevalence of MHE was 56.78% based on the Stroop test, and the differences in pairwise comparisons among the three groups were statistically significant (kappa = -0.064, P < 0.001). Stratified analysis revealed that the MHE prevalence in three groups of patients with Child-Pugh classes A, B, and C was 74.14%, 83.33%, and 88.24%, respectively, according to the normal value standards of Chinese researchers, while the MHE prevalence rates in three groups of patients with Child-Pugh classes A, B, and C were 8.29%, 23.53%, and 38.24%, respectively, according to the normal value standards of Korean researchers. Furthermore, the prevalence rates of MHE in the three groups of patients with Child-Pugh grades A, B, and C were 52.68%, 58.82%, and 73.53%, respectively, according to the Stroop test standard. However, among the results of each diagnostic standard, the prevalence of MHE showed an increasing trend with an increasing Child-Pugh grade. Further comparison demonstrated that the scores obtained by the number connection test A and the number symbol test were consistent according to the normal value standards of the two studies in China and South Korea ( Z = -0.982, -1.702; P = 0.326, 0.089), while the other three sub-tests had significant differences ( P < 0.001). Conclusion:The prevalence rate of MHE in the cirrhotic population is high, but the prevalence of MHE obtained by using different diagnostic criteria or methods varies greatly. Therefore, in line with the current changes in demographics and disease spectrum, it is necessary to enroll a larger sample size of a healthy population as a control. Moreover, the establishment of more reliable diagnostic scoring criteria will serve as a basis for obtaining accurate MHE incidence and formulating diagnosis and treatment strategies in cirrhotic populations.
6.Clinical efficacy and safety of Treprostinil in the treatment of children with early decompensation after the Fontan procedure
Xuelan LIU ; Ying HUA ; Kaiyuan WU ; Manman HU ; Bin LI ; Xiaojing HUANG
Chinese Journal of Applied Clinical Pediatrics 2022;37(1):41-44
Objective:To investigate the efficacy and safety of Treprostinil in the treatment of children with early decompensation after the Fontan procedure.Methods:A retrospectively analysis was performed on the clinical data of 16 children with early decompensation after the Fontan procedure treated with Treprostinil injection from December 2017 to June 2020 at Fuwai Central China Cardiovascular Hospital.A total of 16 patients were included, including 5 boys (31.2%) and 11 girls (68.8%). The age was (4.6 ±1.2) years, the weight was (16.0±2.1) kg.The changes of central venous pressure (CVP), heart rate (HR), systolic blood pressure (SBP), central venous oxygen saturation (ScvO 2), lactic acid (Lac), oxygenation index and B-type natriuretic peptide (BNP) were recorded at the infusion of Treprostinil and 3 hours, 24 hours, 48 hours and 72 hours after the infusion.The short-term efficacy of Treprostinil was observed[mortality, mechanical ventilation time, and length of intensive care unit (ICU) stay]; paired t-test was used to analyze the above indexes at different time points.The adverse reactions during the administration were also recorded. Results:Of the 16 children, the median mechanical ventilation time was 9 (5, 22) h, and the median ICU stay time was 2 (1, 12)days.After 72 hours of drug administration, CVP, Lac, BNP and HR decreased: CVP decreased from(16±5) mmHg (1 mmHg=0.133 kPa) to (11±2) mmHg ( P<0.001), Lac decreased from(6.8±3.2) mmol/L to (3.2±1.2) mmol/L ( P=0.002), BNP decreased from(980±223) ng/L to (250±120) ng/L( P<0.001), HR decreased from(150±20) times/min to (125±16) times/min( P=0.002); SBP, ScvO 2 and oxygenation index increased: SBP increased from(83±10) mmHg to (98±12) mmHg( P<0.001), ScvO 2 increased from 0.53±0.13 to 0.65±0.11 ( P=0.003), oxygenation index increased from (200±72) mmHg to (298±13) mmHg ( P<0.001), and the differences were statistically significant(all P< 0.05). One case died (6.3%), 2 cases (12.5%) had transient blood pressure drop and 1 case (6.3%) had nausea and vomiting.Besides, no other treatment-related complications were observed. Conclusions:As for children with early decompensation after the Fontan procedure, the intravenous application of Treprostinil can reduce pulmonary artery pressure rapidly, effectively improve circulatory status and oxygenation and ultimately improve the prognosis.
7.Correlation of fetal cervical cystic hygroma with chromosomal and structural abnormalities: analysis of 70 cases
Yanyan WANG ; Ting YUAN ; Wei WANG ; Ting ZHANG ; Chunbao WANG ; Fang HE ; Xuelan LI ; Zhen HAN
Chinese Journal of Perinatal Medicine 2022;25(11):859-862
Objective:To analyze the correlation of fetal cervical cystic hygroma (CCH) with chromosomal and structural abnormalities and to assess the prognosis of CCH.Methods:This study retrospectively enrolled 70 fetuses with CCH diagnosed by prenatal ultrasound in the First Affiliated Hospital of Xi'an Jiao Tong University from July 2015, to December 2021. According to whether complicated by structural malformations or other anomalies, all the subjects were divided into the non-isolated and isolated CCH groups. The correlation of CCH and the gestational age at detection with chromosomal and structural abnormalities were analyzed and the prognosis of the cases were summarized using Chi-square test. Results:There were 34 isolated CCH (34/70, 49%) and 36 non-isolated CCH (36/70, 51%) among the 70 cases. In the non-isolated CCH group, there were eight cases (22%, 8/36) with abnormal heart structure, ten (28%, 10/36) with abnormal anterior abdominal wall, 16 (44%,16/36) with systemic edema and/or pleural effusion, one (3%,1/36) with craniocerebral abnormalities and one with holoprosencephaly and cardiac structural abnormalities. Eighteen out of 44 cases undergoing chromosome testing had chromosomal abnormalities, which were trisomy-18 ( n=6), trisomy-21 ( n=3), trisomy-13 ( n=3), 45,XO ( n=3), and chromosome segment duplication or deletion ( n=3). The detection rate of chromosome abnormality was higher in non-isolated CCH group comparing with isolated CCH group [59%(13/22) vs 23%(5/22), χ2=6.02, P=0.014]. There was no significant difference in the gestational age at the detection of CCH or proportion of women of advanced maternal age between the isolated and non-isolated CCH groups (both P>0.05). The ratios of isolated CCH cases with normal chromosome detected at the gestational weeks of 14-27 +6 was higher than those detected at 11-13 +6 weeks [62%(13/21) vs 17%(4/23), χ2=7.39, P=0.001]. Out of the 17 cases with isolated CCH and normal chromosomes, 12 were live births. One of the 12 cases still had a cystic mass with a diameter of 3 cm in the neck nine months after birth, and the other 11 cases had no mass at birth but one case died at the age of five months (hospitalized one week for neonatal edema),one case was found with anal atresia three days after birth and underwent operation and the remaining nine cases were normal during five months to six years follow-up. Conclusions:Non-isolated CCH is at a higher risk of chromosomal abnormalities. Isolated CCH cases detected later had higher rate of normal chromosome and often have a higher survival rate.
8.A prospective multicenter and real-world study on the diagnostic value of combination of number connection test-B and line tracing test in mild hepatic encephalopathy
Junqing YAN ; Hongmei ZU ; Jing WANG ; Xiaoqing GUO ; Xiaoyan LI ; Shanghao LIU ; Huiling XIANG ; Zhaolan YAN ; Tong DANG ; Haiying WANG ; Jia SUN ; Lei HUANG ; Fanping MENG ; Qingge ZHANG ; Guo ZHANG ; Yan HUANG ; Shaoqi YANG ; Shengjuan HU ; Jigang RUAN ; Yiling LI ; Chuang LEI ; Ying SONG ; Zhangshu QU ; Ruichun SHI ; Qin LIU ; Yijun LIU ; Qiaohua YANG ; Xuelan ZHAO ; Caiyan ZHAO ; Chenxi WU ; Qian SHEN ; Manqun WU ; Yayuan LIU ; Dongmei YAN ; Chuan LIU ; Junliang FU ; Xiaolong QI
Chinese Journal of Digestion 2022;42(10):659-666
Objective:To investigate the diagnostic value of independent and combined subtests of the psychometric hepatic encephalopathy score (PHES) in mild hepatic encephalopathy(MHE) of patients with liver cirrhosis, so as to optimize the PHES.Methods:This was a prospective, multicenter and real-world study which was sponsored by the National Clinical Research Center of Infectious Diseases and the Portal Hypertension Consortium. Twenty-six hospitals from 13 provinces, autonomous regions and municipalities countrywide participated in this study, induding Tianjin Third Central Hospital, the Fourth People′s Hospital of Qinghai Province, the Second Affiliated Hospital of Baotou Medical College, the Third People′s Hospital of Taiyuan, the Fifth Medical Center of PLA General Hospital and so on. From October 2021 to February 2022, outpatients and hospitalized patients with liver cirrhosis and no obvious hepatic encephalopathy were consecutively enrolled. All patients received 5 PHES subjects in the same order: number connection test(NCT)-A, NCT-B, digit symbol test(DST), line tracing test(LTT) and serial dotting test(SDT), and the scores were calculated. The total score of PHES <-4 was taken as the cut-off value for diagnosing MHE. Compare the differences in each subtest between MHE group and non-MHE group. Receiver operating characteristic curve(ROC) and area under the curve(AUC) was performed to assess the diagnostic value of independent and combined subtests in MHE. Mann-Whitney U test and DeLong test were used for statistical analysis. Results:A total of 581 patients with liver cirrhosis were enrolled, 457 were diagnosed as MHE, and the incidence of MHE was 78.7%. The results of NCT-A, NCT-B, SDT, LTT, DST of MHE group were 60.00 s(47.01 s, 88.00 s), 90.45 s(69.32 s, 125.35 s), 74.00 s(57.65 s, 96.60 s), 74.72(60.00, 98.61) and 27.00(20.00, 36.00), respectively. Compared those of non-MHE group(34.00 s(29.15 s, 44.48 s), 50.00 s(40.98 s, 60.77 s), 50.00 s(41.07 s, 63.03 s), 46.23(38.55, 59.42) and 42.00(34.00, 50.75)), the differences were statistically significant( Z=12.37, 12.98, 9.83, 11.56, 10.66; all P<0.001). The AUC(95% confidence interval(95% CI)) of subtests of PHES NCT-B, NCT-A, LTT, DST and SDT alone in MHE diagnosis were 0.880(0.849 to 0.910), 0.862(0.828 to 0.896), 0.838(0.799 to 0.877), 0.812(0.772 to 0.851) and 0.788(0.743 to 0.832), respectively. The combination of 2 PHES subtests significantly increased the diagnostic efficacy. Among them the diagnostic efficacy of the combination of NCT-B and LTT was the best, the AUC(95% CI) was 0.924(0.902 to 0.947), the specificity was 91.9% and the sensitivity was 79.2%, which was better than a single PHES subtest (NCT-A, NCT-B, SDT, LTT and DST) and the combination of NCT-A and DST(AUC was 0.879, 95% CI0.847 to 0.910) which was recommended by guidelines on the management of hepatic encephalopathy in cirrhosis, the differences were statistically significant ( Z=3.78, 3.83, 5.57, 5.51, 5.38, 2.93; all P<0.01). Furthermore, compared between the combination of NCT-B and LTT and the combination of 3 subests of PHES, only the diagnostic efficacy of combination of NCT-B, LTT and SDT (AUC was 0.936, 95% CI 0.916 to 0.956) was better than that of the combination of NCT-B and LTT, the difference was statistically significant( Z=2.32, P=0.020). Conclusion:Based on the diagnostic efficacy and clinical feasibility of PHES subtests and their combinations, the combination of NCT-B and LTT is recommended for the diagnosis of MHE.
9.Congenital heart disease with 22q11.2 deletion syndrome
Bin LI ; Taibing FAN ; Xuelan LIU
Chinese Journal of Applied Clinical Pediatrics 2021;36(9):717-720
22q11.2 deletion syndrome (22q11.2DS) is the second leading chromosomal cause of congenital heart disease (CHD) after Down syndrome.In the past few decades, great progress has been made in describing the anatomical types, potential heredity, and pathogenesis of CHD complicated with 22q11.2DS in terms of improving the diagnosis and treatment of these diseases.However, cardiac malformation is still the leading cause of death in 22q11.2 DS.Further studies are needed to elucidate the genetic mechanism behind high phenotypic variability of CHD and to explore the multidisciplinary treatment for the improvement of the prognosis.22q11.2 gene detection in patients suffering from CHD may provide useful insights into early diagnosis and multidisciplinary treatment.
10.Lymphoplasmacytic lymphoma/Waldenstr?m macroglobulinemia: a clinical analysis of 13 cases
Yingying WANG ; Liang SHAO ; Yi ZHOU ; Minghui LIU ; Bei XIONG ; Jiang WU ; Li HE ; Hui XIAO ; Xuelan ZUO ; Fei CHEN ; Fuling ZHOU ; Shangqin LIU
Journal of Leukemia & Lymphoma 2020;29(10):590-594
Objective:To investigate the clinical characteristics of patients with lymphoplasmacytic lymphoma/Waldenstr?m macroglobulinemia (LPL/WM), and the diagnosis and optimal treatment of LPL/WM.Methods:The clinical data of 13 LPL/WM patients treated in Zhongnan Hospital of Wuhan University from January 2013 to June 2018 were retrospectively analyzed, and the literature was reviewed.Results:The median age of 13 patients was 60 years old (35-79 years old). There were 12 males and 1 female. Initial symptom was fatigue or edema of both lower limbs for majority of patients. All patients had immunoglobulin M (IgM) monoclonal, 3 of them had elevated immunoglobulin G (IgG) level, including 1 patient with monoclonal IgG. LDH was increased in 2 patients. Coombs test was positive in 5 patients. MyD88 gene mutation status was detected in 8 patients, of which gene mutation in 5 patients was positive. Among 13 patients, 1 patient lost follow-up, 3 patients died, 9 patients were alive with the median survival of 36 months (19-81 months).Conclusions:Incidence of LPL/WM is relatively low with a generally indolent evolution, but heterogeneity is not negligible. Few patients have poor treatment response with a quick disease progress. The high-risk patients undergoing hematopoietic stem cell transplantation after remission-induction chemotherapy may improve the prognosis.

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