1.Molecular analysis of the new allele 803delC of subtype B
Liping WANG ; Xiaomei YU ; Shujie LI ; Xi LI ; Baojun JI ; Xinju LI ; Futing SUN
Chinese Journal of Blood Transfusion 2024;37(3):344-347
【Objective】 To analyze the serological characteristics and molecular mechanism of a novel B subtype allele 803delC. 【Methods】 ABO blood group was detected by serological method. Sequence-specific primer polymerase chain reaction (PCR-SSP) was used to detect ABO blood group genes. The coding region of exon 1-7 of ABO gene was detected by Sanger sequencing to determine the mutation site. 【Results】 Serological identification of patients was with forward O-type and reverse B-type. The result of PCR-SSP genotyping was A/O. There was A gene, which was not consistent with serological results. Further Sanger double-strand sequencing revealed that the C-base was deleted at position 803 of exon 7 on the basis of ABO*B. 01/ABO*O. 01.01. The mutation eventually leads to the amino acid substitution of p. Ala268Gly and p. Phe269Ser and the production of new open reading frame starting at position 269, with the new open reading frame No.20 amino acid being stop codon, resulted in the termination of B gene expression. Further single-strand sequencing of the ABO gene revealed that the mutation was located in the ABO*B. 01 gene. The mutation was submitted to the NCBI database with the number OR343908. 【Conclusion】 A new ABO allele leading to B variant has been found in Chinese population. Genetic detection can be used to identify the ambiguous blood group with discrepancy between forward and reverse blood grouping.
2.Study on Prediction of Potential Suitable Distribution Areas of Epimedium brevicornu Maxim.in China Based on Optimal MaxEnt Model
Xudong GUO ; Shaoyang XI ; Liping YANG ; Jie JI ; Xiaohui MA ; Ling JIN
Chinese Journal of Information on Traditional Chinese Medicine 2024;31(3):1-7
Objective To predict the potential suitable growth areas of Epimedium brevicornu Maxim.under current climate conditions in China;To provide basis for the sustainable utilization of Epimedium brevicornu Maxim.resources and production planning.Methods Based on 267 screened species distribution data of Epimedium brevicornu Maxim.and 8 environmental factors,the MaxEnt parameters were optimized by the R language kuenm package.The main environmental factors that affect the distribution of Epimedium brevicornu Maxim.was analyzed and its potential distribution range was predicted.Results The omission rate of the optimal model operation results was 0.044 8,AICc=6 409.884 5,AUC=0.986,indicating a high accuracy of the model.Based on the contribution rate of environmental factors and the knife cut method,it was indicated that the key environmental factors affecting the current distribution of Epimedium brevicornu Maxim.were mainly the average precipitation in July,the average highest temperature in February,the average precipitation in September,the coldest season precipitation,the coefficient of variation of precipitation,the standard deviation of seasonal temperature changes,and the warmest season precipitation.The simulation results showed that the total suitable area for Epimedium brevicornu Maxim.in China under current climate conditions was approximately 221.14×104 km2,concentrated in the central and central southern regions of China.The area of the high suitability zone was approximately 23.13×104 km2;the area of the suitable growth zone was approximately 73.78×104 km2;the area of low suitability zone was approximately 124.22×104 km2.Conclusion This study provides a basis and reference for the artificial cultivation planning and sustainable utilization of Epimedium brevicornu Maxim.resources.
3.Effects of blockade of visceral adipose afferent nerve on cardiac function and neural remodeling in rats after myocardial infarction
Jiaxing HUANG ; Wuping TAN ; Qinfang QIU ; Haosong XI ; Rui LI ; Liping ZHOU ; Yueyi WANG ; Hong JIANG
Chinese Journal of Geriatric Heart Brain and Vessel Diseases 2024;26(2):192-196
Objective To investigate the effect of afferent blockade of visceral adipose tissue(VAT)on cardiac function and cardiac neural remodeling in rats after myocardial infarction(MI).Methods After 30 healthy SPF-grade male SD rats were subjected,12 of them were randomly divided into control group(n=6)and activation group(n=6).In the activation group,low-dose capsaicin(1 mmol/L)was used to activate VAT afferent nerves,while in the control group,an equal amount of normal saline was injected,and real-time blood pressure and heart rate were monitored for 30 min.The other 18 rats were randomly assigned into sham group(n=6),MI group(n=6),and high-dose capsaicin blockade group(n=6).The MI model was established by ligating the left anterior descending coronary artery.After MI modeling,the high-dose capsaicin blockade group was give 33 mmol/L capsaicin to block VAT afferent nerve,and the sham opera-tion group and MI group were injected with the same amount of normal saline.After 2 weeks,car-diac function was measured by echocardiography,infarct size was measured by TTC staining,heart rate variability was analyzed,and myocardial tyrosine hydroxylase(TH)was measured.The levels of myocardial superoxide dismutase(SOD)and malondialdehyde(MDA)were measured by biochemical methods.Results More significant changes in blood pressure and heart rate were observed in the activation group than the control group(P<0.01).The MI group had obviously larger infarct size,higher LVEDD and LVESD,and increased myocardial TH density and MDA level,but lower LVEF and myocardial SOD activity than the sham group(P<0.05).However,the infarct size,LVEDD(9.15±0.37 mm vs 10.1±0.85 mm),LVESD(6.33±0.40 mm vs 7.87±0.86 mm)were obviously decreased,while LVEF[(67.04±3.34)%vs(47.10±3.89)%]and myocar-dial FS[(33.26±2.50)%vs(20.81±2.14)%]activity were greatly increased in the high dose capsaicin group than the MI group(P<0.05).Conclusion Activation of VAT afferent nerve can increase blood pressure and heart rate;while its blockade can reduce the infarct size,protect cardiac function and inhibit cardiac nerve remodeling in MI rats,possibly by reducing oxidative stress.
4.Study on the correlation between home rearing environment and social emotional competence of infants and toddlers
Yuying XU ; Chenming GUO ; Fangxuan MEI ; Xi ZHANG ; Liping YU ; Jiali DONG
Chinese Journal of Child Health Care 2024;32(5):559-565
【Objective】 To understand the current situation of social emotional competence of infants and toddlers, and analyze its relationship with home rearing environment, in order to provide the basis for improving the level of infant social emotional development. 【Method】 A study was conducted on 390 individuals from a child health institution in Hubei and Henan provinces.The "Infant and Toddler Social-Emotional Assessment Scale" and "1 - 3 Years Child Home Rearing Environment Scale" were used to investigate the social emotions ability and home rearing environment of infants and toddlers. 【Results】 A total of 390 valid questionnaires were collected in this survey, of which 199 were boys (51.0%) and 191 girls (49.0%). The average age of infants was (27.13±6.86)months.The age distribution is mainly among infants and young children aged 24 to 36 months, with a total of 305 people (78.2%). The caregiver′s registered residence (Z=-3.570), father′s education level (H=17.106), mother′s education level (H=7.980), per capita monthly income of the family (H=13.986), and the home rearing environment (Z=-8.881) had statistical significance on the social emotional competence of infants(P<0.05 or <0.01).There was a significant positive correlation between family rearing environment and infants′ social emotion (r=0.582, P<0.01).Multiple regression analysis showed that the social adaptation/self-care(β=0.30, 95%CI: 0.18 - 0.52, P<0.01)and language cognition dimensions(β=0.22, 95%CI: 0.07 - 0.59, P<0.05) in the home rearing environment had a statistically significant impact on the social emotional ability of infants and toddlers. 【Conclusion】 The home rearing environment is closely related to the social emotional development of infants and young children.Improve the parenting knowledge and skills of the main caregivers of infants and young children, build a good family rearing environment for infants and young children, which is beneficial to promote the development of children′s social emotions.
5.Correlation of parental meta-emotion philosophy and family rearing environment in infants and toddlers
Yuying XU ; Xi ZHANG ; Zifen AN ; Liping YU
Chinese Journal of Child Health Care 2024;32(2):127-132
【Objective】 To explore the relationship between parental meta-emotion philosophy and family rearing environment in infants and toddlers, in order to provide guidance for building a positive family rearing environment. 【Methods】 The Parental Meta-Emotion Philosophy Scale was used to measure parents′ social emotions. Family rearing environment of infants was investigated by combining demographic data and Family Rearing Environment Scale. Independent sample t-tests, one-way analysis of variance, Spearman correlation analysis, and multiple linear regression were utilized to analyze the relationship between parental meta-emotion philosophy and the family rearing environment. 【Results】 A total of 370 infant caregivers were included in the study. The average age of infants was (27.81±7.76) months, with 192 boys (51.9%) and 178 girls (48.1%). Parents′ education level (F=4.71), whether they were the only child or not (t=8.85), whether the infant attended nursery or not (t=-2.49), and the per capita monthly income of the family (F=4.77) showed statistical significance in relation to the differences observed among the family rearing environments of infants and toddlers (P<0.05). Multivariate analysis indicated that the emotional teaching dimension of parental meta-emotion philosophy had a positive predictive effect on the overall level of the infant′s family rearing environment (β=0.50, 95%CI: 1.11 - 1.59), while the emotional loss dimension had a negative predictive effect (β=-0.15, 95%CI: -0.85 - -0.07). 【Conclusion】 The parental meta-emotion philosophy is closely related to the family rearing environment and serves as an important factor influencing it. It is supposed to improve parents′ emotional literacy and enrich their knowledge of parental meta-emotion philosophy, so as to help build a positive family rearing environment.
6.Herbal Textual Research on Pharbitidis Semen in Famous Classical Formulas
Liping YANG ; Xudong GUO ; Shaoyang XI ; Xiaohui MA ; Zhilai ZHAN ; Ling JIN
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(6):179-189
By consulting the ancient and modern literature, the textual research of Pharbitidis Semen has been conducted to clarify the name, origin, distribution of production areas, quality specification, harvesting, processing and so on, so as to provide reference for the development and utilization of the relevant famous classical formulas. Through textual research, it can be seen that Pharbitidis Semen was first published in Mingyi Bielu(《名医别录》), and all dynasties have taken Qianniuzi as the correct name. Based on the original research, the main source of Pharbitidis Semen used in previous dynasties is the dried mature seeds of Pharbitis nil, which is consistent in ancient and modern times. The white Pharbitidis Semen appearing in Compendium of Materia Medica(《本草纲目》) from Ming dynasty is similar to the present P. purpurea. It is produced all over the country, and the quality is better if the particles are full and free of impurities. In ancient times, the harvesting time was mostly in the September. Now it is autumn. The fruits are ripe and harvested, dried to remove impurities for standby. In ancient times, the processing methods of Pharbitidis Semen were mainly wine steaming, steaming and frying until half cooked and grinding the head and end. In modern times, they have been simplified to stir-frying method. The nature, taste, meridian tropism and their effects also change supplements with the deepening of practice. Before the Ming dynasty, they were all bitter, cold and toxic. In the Ming dynasty, there appeared the characteristics of pungent, hot and small poisonous. The efficacy has evolved from controlling low Qi, curing foot edema, removing wind toxin, and facilitating urination to facilitating water and defecation, eliminating phlegm and drinking, and eliminating accumulated insects. The main clinical contraindications are those with weak spleen and kidney, those with weak spleen and stomach, pregnant women, and should not be used with croton and croton cream. Based on the textual research, it is suggested that when developing the classic famous formula with Pharbitidis Semen as the main raw material in the future, it is clear that the source should be the dried mature seeds of Pharbitis nil(black product is its black-brown seeds, white product is its beige seeds). The processing requirements indicated in the original formula are all processed according to the requirements, and the raw product is recommended to be used as medicine if not specified.
7.Preliminary study on the role and mechanism of IL-6 receptor antagonists in improving post-infarction ventricular arrhythmia
Qinfang QIU ; Chen PENG ; Zeyan LI ; Xiao XU ; Haosong XI ; Tianyuan LIU ; Wuping TAN ; Jiaxing HUANG ; Liping ZHOU ; Yueyi WANG ; Hong JIANG
Chinese Journal of Cardiology 2024;52(7):791-797
Objective:To investigate the effect of tocilizumab (TCZ) on ventricular arrhythmias (VAs) after myocardial infarction (MI) in Sprague-Dawley rats and explore its potential mechanism.Methods:The random number table method was used to divide 32 adult male Sprague-Dawley rats into 4 groups: Sham group, TCZ group, MI group and MI+TCZ group, with 8 rats in each group. The MI model was established by ligation of the left anterior descending branch of the coronary artery in the MI and MI+TCZ groups, and only sutured without ligation in the Sham and TCZ groups. TCZ was injected into the left superior cervical ganglion (SCG) of rats in the TCZ and MI+TCZ groups after successful modeling or sham operation, and the same amount of normal saline was injected in the Sham and MI groups. 24 h after successful modeling, ECG of rats in each group was recorded, heart rate variability (HRV, including low frequency power (LF), high frequency power (HF), LF/HF ratio), QT interval, QTc interval were calculated, and left ventricular effective refractory period (ERP) and VA inducibility were measured. Myocardial infarct size and tissue changes were observed with triphenyl tetrazolium chloride staining and HE staining. Real-time PCR analysis was used to detect the messager RNA (mRNA) expression of interleukin-6 (IL-6) and signal transducer and activator of transcription (STAT) 3 in SCG and potassium voltage-gated channel subfamily D member 2 (Kcnd2) in myocardial infarction periphery. The expression of c-fos in SCG was detected by immunofluorescence staining.Results:Compared with Sham group and MI+TCZ group, rats in MI group had higher LF and LF/HF ratio, longer QT interval and QTc interval, more VAs induced, lower HF and shorter ERP ( P all<0.05). Triphenyl tetrazolium chloride staining and HE staining showed that rats in the Sham and TCZ groups had normal myocardial tissue structure, those in the MI group had severe myocardial injury, and those in the MI+TCZ group had less myocardial injury than those in the MI group. Real-ime PCR analysis showed that compared with Sham group and MI+TCZ group, mRNA expression levels of IL-6 and STAT3 in SCG of rats in MI group were higher, and mRNA expression level of myocardial Kcnd2 was lower ( P all<0.05). Immunofluorescence staining showed that the content of c-fos in SCG of rats in MI group was higher than that of Sham group and MI+TCZ group ( P all<0.05). Conclusions:TCZ may reduce neural activity of the SCG after MI by inhibiting the IL-6/STAT3 signaling pathway, thereby alleviating myocardial injury and inhibiting VAs.
8.Clinical Manifestations,Molecular Genetics and Gonadal Pathology of 416 Patients with Disorders of Sex Development:A Single-Center Cohort Study
Wanjun LIN ; Cuili LIANG ; Wen FU ; Liyu ZHANG ; Wei JIA ; Jinhua HU ; Wen ZHANG ; Yunting LIN ; Huilin NIU ; Liping FAN ; Zhikun LU ; Duan LI ; Zongcai LIU ; Huiying SHENG ; Xi YIN ; Xiaodan CHEN ; Guochang LIU ; Jing CHENG ; Li LIU
JOURNAL OF RARE DISEASES 2024;3(3):310-317
Objective To investigate the clinical manifestations,molecular genetics and gonadal pathol-ogy characteristics of patients with disorders of sex development(DSD),and to summarize the clinical experi-ence of identifying rare diseases from common symptoms.Methods The clinical data of 416 patients with DSD diagnosed and treated in the multidisciplinary center of DSD of Guangzhou Women and Children's Medical Cen-ter from May 2018 to August 2023 were retrospectively analyzed,summarized and discussed.Results Accord-ing to chromosome karyotype,416 cases of DSD were classified into three types:92 cases(22.1%)of abnormal sex chromosome karyotype,285 cases(68.5%)of 46,XY karyotype and 39 cases(9.4%)of 46,XX karyotype.Among the 92 patients with abnormal sex chromosome karyotype,59 cases were raised as males,18 cases(30.5%)complained of short penis with hypospadias and cryptorchidism.The most common karyotype was 45,X/46,XY(58 cases,63.0%).Among the 285 patients with 46,XY karyotype,238 cases were raised as males,and 63 cases(26.5%)complained of short penis and hypospadias;47 cases were raised as females,and 13 ca-ses(27.7%)complained of inguinal mass.A total of 216 patients with 46,XY karyotype were subjected to whole exome gene detection,and 155 cases(71.8%)were found to have molecular pathogenesis with the clinical phe-notype.Among the 39 patients with 46,XX karyotype,19 cases were raised as males,and 8 cases(42.1%)com-plained of short penis and hypospadias.In the 18 cases of gonad biopsy,17 cases showed testicular tissue in go-nads.Whole exome sequencing was performed in 14 cases.NR5A1 gene heterozygous mutation,SRY gene muta-tion and SOX3 gene mutation were found in 2 cases,respectively(14.3%).Twenty cases were raised as females,and 14 cases(70.0%)complained of clitoral hypertrophy.Gonad biopsy was performed in 8 cases,with 7 cases of ovotestis(87.5%)and 1 case of NR5A1 gene heterozygous mutation(14.3%).Conclusions The etiologies of DSD are complex and diverse,and the clinical manifestations are various,which can be manifested as hypospa-dias,micropenis,cryptorchidism and other common symptoms of the urinary system.Different etiologies have dif-ferent treatment options.Therefore,chromosome karyotype,molecular genetic testing and gonadal pathology can be used to clarify the cause of disease,especially for rare diseases,improve the detection rate,reduce the rate of missed diagnosis,and ensure reasonable treatment,especially sex selection.
9.Analysis of risk factors for delay sternal closure after surgery for congenital cardiac disease in children
Yixiao SONG ; Xi CHEN ; Mingjie ZHANG ; Liping WANG ; Yachang PANG ; Zhuoming XU
Chinese Pediatric Emergency Medicine 2024;31(11):851-855
Objective:To prevent postoperative myocardial oedema or other causes of acute heart failure in congenital cardiac disease,anticipating delay sternal closure may reduce the number of children requiring cardiopulmonary resuscitation after surgery.The aim of this study was to describe the rate of delay sternal closure after surgery for congenital cardiac disease and to analyse the risk factors that may be associated with it.Methods:We retrospectively reviewed all surgeries with extracorporeal circulation in the cardiothoracic surgery intensive care unit of Shanghai Children's Medical Center in the past five years,from September 2014 to December 2018.The study cohort was divided into the delay sternal closure group (n=418) and the control group (routine chest closure,n=12 188) according to whether a delay sternal closure was applicated.Risk factors associated with delay sternal closure were identified by multivariate Logistic regression analysis.Results:A total of 12 606 cases were eligible,of which 418 (3.32%) were in the delayed sternal closure group.The most common cardiac diagnosis in the delayed sternal group was transposition of the great arteries (26.8%,112/418),whereas the most common cardiac diagnosis in the control group was ventricular septal defect (45.9%,5 599/12 188).All-cause mortality in children in the delayed sternal closure group was 3.3% (14/418) compared with 0.4% (46/12 188) in the control group,with a statistically significant difference ( P<0.05).Multivariate Logistic regression analysis showed that the need for delayed sternal closure were associated with age ( OR 0.164,95% CI 0.079-0.338, P<0.001),positive intropic support before surgery ( OR 0.42,95% CI 0.252-0.699, P=0.001),sex( OR 0.742,95% CI 0.648-1.098, P<0.05),mean body weight( OR 1.192,95% CI 1.078-1.318, P<0.001),positive intropic support before surgery( OR 0.370,95% CI 0.252-0.699, P<0.001),complicated surgery ( OR 0.241,95% CI 0.159-0.367, P<0.001) and extracorporeal circulation diversion time ( OR 6.412,95% CI 4.339-9.475, P<0.001). Conclusion:Delayed sternal closure is an important management strategy for congenital cardiac surgery in infants and children.Delayed sternal closure is associated with age,sex,mean body weight at the time of surgery,positive intropic support before surgery,complicated surgery and extracorporeal circulation diversion time.
10.TCM Guidelines for Diagnosis and Treatment of Chronic Cough in Children
Xi MING ; Liqun WU ; Ziwei WANG ; Bo WANG ; Jialin ZHENG ; Jingwei HUO ; Mei HAN ; Xiaochun FENG ; Baoqing ZHANG ; Xia ZHAO ; Mengqing WANG ; Zheng XUE ; Ke CHANG ; Youpeng WANG ; Yanhong QIN ; Bin YUAN ; Hua CHEN ; Lining WANG ; Xianqing REN ; Hua XU ; Liping SUN ; Zhenqi WU ; Yun ZHAO ; Xinmin LI ; Min LI ; Jian CHEN ; Junhong WANG ; Yonghong JIANG ; Yongbin YAN ; Hengmiao GAO ; Hongmin FU ; Yongkun HUANG ; Jinghui YANG ; Zhu CHEN ; Lei XIONG
Journal of Nanjing University of Traditional Chinese Medicine 2024;40(7):722-732
Following the principles of evidence-based medicine,in accordance with the structure and drafting rules of standardized documents,based on literature research,according to the characteristics of chronic cough in children and issues that need to form a consensus,the TCM Guidelines for Diagnosis and Treatment of Chronic Cough in Children was formulated based on the Delphi method,expert discussion meetings,and public solicitation of opinions.The guideline includes scope of application,terms and definitions,eti-ology and diagnosis,auxiliary examination,treatment,prevention and care.The aim is to clarify the optimal treatment plan of Chinese medicine in the diagnosis and treatment of this disease,and to provide guidance for improving the clinical diagnosis and treatment of chronic cough in children with Chinese medicine.

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