1.A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants
Zhanyun JIN ; Junjia GUO ; Yunyun YUAN ; Lingqiang MENG ; Hui LI ; Ya ZHAO ; Jiabao REN ; Yongping MA ; Zun-Sheng XIAO ; Hong ZHANG ; Ling YANG ; Chenyun DOU ; Xiaoxue WANG ; Jinmei WANG ; Wenjing SHEN
West China Journal of Stomatology 2024;42(5):581-592
Objective This study aimed to identify PAX9 variants in non-syndromic tooth agenesis families of Chi-na,as well as to analyze the genotype-phenotype of non-syndromic tooth agenesis caused by PAX9 variants,which can provide a basis for the genetic diagnosis of tooth agenesis.Methods We collected the data of 44 patients with non-syn-dromic oligodontia who underwent treatment at Stomatological Hospital of Hebei Medical University between 2018 and 2023.Whole-exome sequencing was performed on the peripheral blood of the proband and its core family members,and the variants were verified by Sanger sequencing.Pathogenicity analysis and function prediction of the variants were per-formed using bioinformatics tools.The correlation between the genotype of PAX9 variant and its corresponding pheno-type was examined by reviewing 55 publications retrieved from PubMed.The studies involved 232 tooth agenesis pa-tients with PAX9 variants.Results A novel PAX9 c.447delG(p.Pro150Argfs*62)and a reported PAX9 c.406C>T(p.Gln136*)were identified in two Chinese families.Through bioinformatics analysis and three-dimensional structural mod-eling,we postulated that the frameshift variant was pathogenic.The outcome was the premature cessation of PAX9 pro-tein,which caused severe structural and functional deficiencies.Summarizing the PAX9 genotype-phenotype relationship revealed that patients carrying the PAX9 variant commonly led to loss of the second molars.Conclusion We identified the novel PAX9 c.447delG(p.Pro150Argfs*62)in a Chinese family of non-syndromic oligodontia,expanding the known variant spectrum of PAX9.The most susceptible tooth position for PAX9 variants of tooth agenesis was the second mo-lars and the deciduous molars during the deciduous dentition.
2.Interpretation of Teacher Training Syllabus for Clinical Pharmacist Training Program (2023 edition)
Li YOU ; Zhuo WANG ; Nan DING ; Yunyun YANG ; Yangui XU ; Haixia REN ; Pinfang HUANG ; Chaohui WU ; Jing BIAN ; Jing LIU ; Jin LU ; Jiancun ZHEN
China Pharmacy 2023;34(24):2945-2950
OBJECTIVE To interpret Teacher Training Syllabus for Clinical Pharmacist Training Program (2023 edition) (hereinafter referred as to the “new syllabus”), and to provide reference and guidance for promoting the implementation of the new syllabus and realizing the quality-improving goal of the reform of the clinical pharmacist teacher training program initiated by China Hospital Association. METHODS From the perspective of the management and based on the position of the designer, the new syllabus was interpreted from four aspects: the background of its compilation and release, the process of its compilation and its characteristics, the key improvements of the program and the points for attention about its subsequent implementation. RESULTS & CONCLUSIONS The development and release of the new syllabus provide a “construction blueprint” for the reform of the clinical pharmacist teacher training program of the China Hospital Association. The whole process of compiling the new syllabus is characterized by four basic features: theory-led, goal-oriented, research-based, and synergistic. Compared with the previous syllabus, in addition to the adjustment of the text structure,the new syllabus presents more complete and clearer competence requirements for clinical teaching competence in terms of training objectives; in terms of training content, it further structures the group of task items, pays attention to the 育。E-mail:zhenjiancun@163.com sequential planning and time arrangement of items, and puts forward both quantitative and qualitative refinement requirements for each specific training task;in terms of training methods, it emphasizes the interaction of lecturing, demonstrating and guiding, and the progression of observation, operation and reflection, with the intention of guiding teacher trainees to “learn how to teach by teaching”. In the subsequent implementation of the new syllabus, it is necessary for the teacher training bases to attach great importance to the guarantee of training conditions and process quality management, and to organize the teacher training team to do a good job in the two training programs of “clinical pharmacist training” and “clinical pharmacist teacher training”. Based on further improving the connection between the two training programs, the teacher training team should continue to explore the scientific model of clinical pharmacist teacher training oriented by clinical teaching competence.
3.Relationship of materialistic values and peer status with campus bullying among junior school students
REN Ping, WANG Xuan, ZHANG Yunyun, NIU Lili, QIN Xingna, ZHANG Wenjing
Chinese Journal of School Health 2020;41(12):1827-1830
Objective:
To explore the effects of individual materialism, social status on victimization, and to provide a reference for the intervention of campus bullying.
Methods:
A total of 2 597 grade 7 students representing 47 classes from 7 junior middle schools in Zhenzhou were administered with Material Values Scale, Peer Nomination Questionnaire and Victim Questionnaire. Hierarchical Linear Model was used in data analysis.
Results:
Peer rejection(γ=0.15, P<0.01) and individual materialism(γ=0.13, P<0.01) positively predicted victimization, while popularity negatively predicted victimization(γ=-0.05, P<0.01). Class materialism norm also could positively predict victimization(γ=0.82, P<0.01). Moreover, there was a significant interaction between class materialism norm and peer rejection(γ=0.30, P<0.05), and the results of simple effect showed that with the increase of materialism level, the negative impact of peer rejection on victimization was increasing(γ high=0.18, Z high=7.80; γ low=0.12, Z low=5.50, P<0.01).
Conclusion
Peer rejection, individual materialism, popularity and class materialism norm affect individual bullying, and class materialism norm could moderate the relationship between peer rejection and victimization.
4.Prediction study of late-onset fetal growth restriction with estimated fetal weight and Doppler parameters
Chen ZHU ; Yunyun REN ; Jiangnan WU ; Qiongjie ZHOU
Chinese Journal of Ultrasonography 2018;27(9):789-794
Objective To explore the predictive accuracy of two estimated fetal weight ( EFW ) standards ( INTERGROWT H and Hadlock) and Doppler parameters for late-onset fetal growth restriction ( FGR) . Methods A prospective cohort of women with singleton pregnancies who attended research scans and had a livebirth at the obstetrics and gynecology hospital of Fudan University during 32 - 41 weeks of gestation was involved . The markers of ultrasound examinations (including growth measurements ,umbilical artery and middle cerebral artery parameters) were obtained every two weeks . The INTERGROWT H -EFWc and Hadlock-EFWc data were obtained from the last ultrasonography ( within 7 days before delivery) and were used to predict later-onset FGR in a single model or in combined models with other Doppler parameters by logistic regression analyses ,respectively . According to delivery gestation of age and Chinese birth weight (BW) standards ,all cases were divided into a control group ( non-FGR ,BW ≥ 10th % ) and a FGR group ( Late-onset FGR ,BW < 10th % ) . ROC curve analyses were performed to compare the predictive accuracy for the late-onset FGR between the Hadlock-EFWc and INTERGROWT H-EFWc . Results A total of 820 eligible women were identified and 676 had finished the follow-up and were enrolled in this prospective cohort study . Among them ,116 neonates were assigned to the late-onset FGR group ,and 560 as control group ( non-FGR) . The cut-off value of the INTERGROWT H-EFWc was percentile 27 .5 ,at which had a sensitivity and specificity of 71 .4% and 83 .7% . The corresponding sensitivity and specificity were 87 .3% and 82 .8% at a cut-off value of percentile 22 .6 of the Hadlock-EFWc . The Hadlock-EFWc had a higher predictive accuracy for the late-onset FGR than the INTERGROWT H-EFWc ,their AUC were 0 .930 ( 0 .908 - 0 .953 ) and 0 .847 ( 0 .807 - 0 .888 ) ,respectively . The accuracy of Doppler single-parameter ( umbilical artery and middle cerebral artery) for late-onset FGR were low ( AUC < 0 .7) ,but the accuracy of combined model- Ⅰ and Ⅱ were high ( AUC 0 .865 and 0 .936 ,respectively) ,similar to their corresponding EFWc models ,respectively . Conclusions The INTERGROWT H-EFWc could predict effectively for late-onset FGR ,however ,its predictive accuracy is lower than that of the Hadlock-EFWc . The predictive accuracy of Doppler parameters for late-onset FGR are poor ,routine monitoring of non-selected populations is not recommended .
5.The dose, efficacy and safety analysis of pantoprazole in the prevention of duodenal ulcer
Fenling REN ; Yunyun ZHAO ; Guangxin WANG
Chinese Journal of Primary Medicine and Pharmacy 2017;24(21):3299-3302
Objective To investigate the dose,efficacy and safety of pantoprazole in the prevention of duodenal ulcer.Methods The patients from October 2014 to October 2016,105 cases of neurosurgery,thoracic surgery,neurosurgery and orthopedic surgery were divided into group A,group B and group C according to random number table method,35 cases in each group.The three groups were treated with intravenous pantoprazole,the dosage of group A was 40mg,1 time/d;the dosage of group B was 80mg,1 time/d;the dosage of group C was 40mg,1 time/12h,treatment cycle was 1 week.Before and after treatment,the gastric pH change and onset time,the incidence of adverse reactions were compared among the three groups.Results After treatment for 24h,the gastric pH of group B was (5.15 ± 0.87),which was significantly higher than (2.35 ± 0.45) in group A and (3.59 ± 0.65) in group C,which in group C was significantly higher than that in group A(t =10.809,24.407,13.598,all P < 0.05).The onset time of group B [(48.6 ± 12.2)] was significantly shorter than (88.7 ± 23.4) of group A and (85.4 ± 26.5) of group C (t =10.987,10.083,all P < 0.05).In group B,the time of gastric pH > 3 [(954.5 ± 156.4) rin],pH > 4 time [(865.4 ±135.2)rin]and pH >5 time[(714.2 ± 115.4)min]were significantly longer than those in group A and group C,which in group C were significantly longer than that in group A,the differences were statistically significant (t =8.852,30.177,21,325,3.864,40.879,44.713,all P < 0.05).The incidence rates of adverse reactions in group A,group B and group C were 5.71%,14.3% and 8.6%,respectively,there was no statistically significant difference (t =4.175,45.149,43.974,all P < O.05).Conclusion 80mg qd pantoprazole can significantly improve gastric pH,effectively prevent and treat duodenal ulcer,with high safety.
6.The clinical value of colour Doppler ultrasonography in diagnosis of uterine carcinosarcoma
Fangui ZHAO ; Yang XU ; Hao ZHANG ; Yunyun REN
Fudan University Journal of Medical Sciences 2017;44(4):512-516
Objective To explore the clinical value of color Doppler ultrasonography in the diagnosis of uterine carcinosarcoma (UCS).Methods The clinical data and ultrasonographic manifestations of 63 cases of UCS proved by operation and pathology in Obstetrics and Gynecology Hospital of Fudan University from January 2003 to December 2014 were retrospectively analyzed.The clinical features and characteristics of ultrasound images in UCS were summarized and classified according to their ultrasonographic features.Results It mostly occurred in postmenopausal women (77.8%).The average age of the 63 patients of UCS was (57.7 ± 11.5) years old.The most common symptoms of UCS were postmenopauseal vaginal bleeding (57.1%),menstrual disorders (20.6%),vaginal discharge (11.1%),uterine mass or thickened endometrium (11.1%).Tumor marker CA125 was evaluated in 36 women and found to be elevated in 15 women (41.7%),60% of which (9/15) was less than 200 U/mL.Six cases (16.7%) of relative higher level of serum CA125 (> 200 U/mL) were at advanced stage or with malignant ovarian tumors.The sonographic findings of UCS had three types:Uterine cavity type (71.4%),endometrium type (14.3%),and myometrium type (14.3%).The ultrasonographic characteristics of uterine cavity type and myometrium type were fuzzy boundary,irregular shape,and internal uneven echo.Color doppler flow image showed rich blood signals and low resistance index (0.55 + 0.11) of the surrounding and internal artery of the lesions.The large volume of lesion was the characteristic of myometrium type.Conclusions UCS is a very aggressive and extremely rare tumor with the symptoms of postmenopauseal vaginal bleeding,menstrual disorders,vaginal discharge,et al.There are three types of sonographic findings of UCS:uterine cavity type,endometrium type and myometrium type.To strengthen the understanding of UCS and combined with clinical manifestations,the transvaginal color Doppler ultrasound was helpful to early detection,early diagnosis and making the appropriate treatment.
7.The clinical value of INTERGROWTH-21st standard in evaluating intrauterine growth restriction
Chen ZHU ; Yunyun REN ; Jiangnan WU
Fudan University Journal of Medical Sciences 2017;44(3):307-311,325
Objective To explore the application value of INTERGROWTH-21st standard evaluate intrauterine growth restriction (IUGR).We aimed at predicting IUGR with ultrasonic fetal growth measurements.Methods A prospective cohort of singleton pregnancy scanned after 28 gestational weeks was constructed.The Z-score values of growth measurements were calculated using the INTERGROWTH-21st standard.Logistic regression equation was used to establish the prediction formula.Finally,the new formula was compared with the traditional Hadlock method to predict the accuracy of IUGR.We assessed outcomes for consenting participants who attended research scans and delivered at the Obstetrics and Gynecology Hospital of Fudan University.Results A total of 834 patients fulfilling the inclusion criteria were included.After the exclusion of 143 lost cases,565 of control cases and 126 of IUGR cases were obtained.The sensitivity,specificity,positive predictivevalue,negative predictive value,false positive rate and false negative rate of prediction model wererespectively:88.9 %,85.4 %,57.7 %,97.2 %,14.6 %,11.1 %.In contrast,the values of Hadlock wererespectively:81.7%,82.7%,51.2%,95.3%,17.3%,18.3%.Conclusions This study shows aprediction model of IUGR.INTERGROWTH-21st standard improved the diagnostic accuracy of IUGR,especially enhanced the positive predictive value.
8.A discussion of diagnostic value and diagnostic indicator in distinguishing arcuate uterus from septate uterus by three dimensional sonography
Fangyuan ZHENG ; Yuqin ZHOU ; Long SUI ; Yunyun REN ; Beibei DAI ; Ru LIN
Chinese Journal of Medical Ultrasound (Electronic Edition) 2017;14(2):127-133
Objective To discuss the accuracy of three-dimensional (3D) sonography in diagnosing arcuate uterus and septate uterus and propose a quantitative indicator in distinguishing arcuate uterus and septate uterus.Methods Ninety-six patients with suspected congenital uterine malformation underwent 3D sonography to assess uterine anomalies at Obstetrics and Gynecology Hospital of Fudan University from August 2011 to March 2013.Uterine coronal section was reconstructed and measured in onmi view imaging mode of 3D sonography.Then qualitative diagnosis and categorization was done.The results were compared with diagnosis of hysteroscopy,hysteroscopy combined with laparoscope to determine the sensitivity,specificity,positive predictive values,negative predictive values and total accuracy of 3D sonography in diagnosing arcuate uterus,partial and complete septate uterus respectively.The variable was created in coronal section of uterus constructed through 3D imaging mode to differentiate arcuate uterus from septate uterus.Results There were 33 cases (34.4%,33/96) of arcuate uterus,54 cases (56.2%,54/96) of partial septate uterus and 9 cases (9.4%,9/96) of complete uterus in 96 cases diagnosed by 3D sonography.The accuracy of 3D sonography in diagnosing arcuate uterus and septate uterus was 86.5%.We concluded that 3D sonography had 100% sensitivity,82.9% specificity,60.6% positive predictive value and 100%negative predictive value in the diagnosis of arcuate uterus.The sensitivity of 3D sonography for diagnosis of partial septate uterus was 80.6%,the specificity was 100%,the positive predictive value was 100%,and the negative predictive value was 69.1%.The sensitivity,specificity,positive and negative predictive values of 3D sonography for detecting complete septate uterus were all 100%.The ratio of depth of uterine internal indentation and depth from uterine fundus to the top of intemal indentation was more than 50% for septate uterus,while less than 50% for most of the arcuate uterus.Conclusions The diagnostic efficiency of 3D sonography in specific uterine malformation is different.The new quantitative indicator maybe helpful in improving the accuracy of 3D sonography in diagnosing arcuate uterus and septate uterus.
9.Clinical outcomes of 241 cases with fetal ventriculomegaly
Nan CHU ; Bin ZHANG ; Yueping ZHANG ; Yingliu YAN ; Yunyun REN
Chinese Journal of Perinatal Medicine 2016;19(8):575-580
Objective To evaluate the pregnancy outcomes and prognosis of fetuses with different levels of ventriculomegaly.Methods Fetuses with ventriculomegaly subjected to the multidisciplinary consultation in the Obstetrics and Gynecology Hospital of Fudan University between January 2004 and December 2013 were included in this study.The fetuses were divided into three groups according to the width of the lateral ventricles on ultrasound examination as follows:mild ventriculomegaly (Mild Group,≥ 10 -<12 mm,151 cases),moderate ventriculomegaly (Moderate Group,≥ 12-<15 mm,56 cases) and severe ventriculomegaly (Severe Group,≥ 15 mm,34 cases).All cases were followed up with additional ultrasound scans during pregnancy and follow up was continued until the children were almost nine years old.Chi square test,Fisher's exact test and Bonferroni method were used to analyze the data.Results Two hundred and forty one fetuses were followed up.Ninety-one cases were terminated,and 150 were born (105 cases in Mild Group,30 cases in Moderate Group,and 15 cases in Severe Group).During ultrasound follow up of the 150 cases,the lateral ventricle width regressed in 42 cases (28.0%) and remained stable in 108 cases (72.0%).In the regressed group,the ventricle width in 31 cases in the Mild Group regressed to normal and a hearing abnormality was noted in one case after birth.In the Moderate Group,the lateral ventricle width in nine cases regressed to normal,one case had mild ventriculomegaly,and none of these cases showed abnormalities after birth.One case in the Severe Group showed no abnormalities,while the width of the lateral ventricles decreased to 14.0 and 16.0 mm.With regard to the outcomes of lateral ventricle width with or without regression,one of 42 cases in the regressed group had a significant abnormality,while 19 of 108 cases in the stable group [eleven cases (14.9%,11/74) in Mild Group,two (10.9%,2/20) in Moderate Group,and six (6/14) in Severe Group] showed significant abnormalities.Statistically significant differences were found between the two groups [2.4%(1/42) vs 17.6%(19/108),x2=4.940,P=0.026].When the outcomes of the three groups were compared,12 of 105 cases in the Mild Group (11.4%),two of 30 cases in the Moderate Group (6.7%),and 6 of 15 cases in the Severe Group (6/15) had significant abnormalities.Statistically significant differences were found between the three groups (x2=6.908,P=0.032).Statistical significance was observed in the Moderate Group and Severe Group (x2=4.929,P=0.026),while the Mild Group had a more favorable prognosis than the Severe Group (x2=5.266,P=0.022).Chromosomal examinations were carried out in 57 cases and the incidence of chromosomal abnormalities was 8.8%(5/57) [7.0% (3/43),1/8 and 1/6 in the three groups,respectively].Infection screening was performed in 29 cases and one case was found to be positive for rubella virus-IgM,two cases were positive for cytomegalovirus-IgM,and one case was positive for toxoplasma gondii-IgM.Conclusions Pregnancy outcomes and the prognosis of fetal ventriculomegaly are associated with the degree and progression of ventricular dilatation.
10.Diagnosis of isolated fetal renal pyelectasis during midtrimester and follow-up the outcome in utero by prenatal ;ultrasonography
Chen ZHU ; Yunyun REN ; Yingliu YAN ; Li SUN ; Fanbin KONG ; Wei ZHAO ; Yanlai HU ; Ying YAO ; Ru LIN ; Beibei DAI
Chinese Journal of Ultrasonography 2015;(8):697-700
Objective To assess the clinical significance of fetal pyelectasis and its changing in utero. Methods One hundred and ninty-seven isolated pyelectasis cases were retrospective reviewed from Jan 2012 to Jul 2014.Isolated pyelectasis was defined as a renal pelvis anteroposterior diameter (RPAPD)of ≥5 mm without other fetal anomaly in second trimester.Persistent or progressive pyelectasis was defined as a RPAPD of ≥10 mm before delivery.They were divided into two groups according to the size of renal pelvis in second trimester:group A (RPAPD 5 - 10 mm)and group B (RPAPD ≥ 10 mm).As the same,there were two groups after 32 weeks of gestation:group C (RPAPD < 10 mm)and group D (RPAPD ≥ 10 mm).Results Totally 1 54 cases were followed up.There were 1 88 cases (95.4%)in group A,with 41 cases lost,141 cases (95.9%)RPAPD <10 mm,6 cases (4.1 %)RPAPD ≥10 mm before delivery.There were 9 cases (4.6%)in group B,with 2 cases lost,remained 7 cases RPAPD ≥ 10 mm before delivery. Conclusions Although most of the fetuses with RPAPD 5 - 10 mm in second trimester will remain the same or resolved before delivery,those with RPAPD ≥ 10 mm may persistent or progress.Prenatal assessment of fetal renal pelvis may provide properly consultation.


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