1.Prenatal diagnosis of microcephaly due to CTNNB1 frameshift variation: a case report
Haiyu LI ; Weifang TIAN ; Yanhua DONG ; Yangyang WANG ; Handuo WANG ; Jia PENG ; Bo YANG ; Xueyin CUI ; Shihong CUI ; Ling LIU
Chinese Journal of Perinatal Medicine 2024;27(5):417-420
This article reported a case of neurodevelopmental disorder accompanied by spastic diplegia and visual impairment with the manifestation of small fetal head circumference. Prenatal ultrasonography performed at 33 +5 weeks of pregnancy revealed small fetal head circumference (-2.61SD) and oligohydramnios. Whole-exome sequencing identified a heterozygous frameshift variation of c.1623_1624insA (p.R542Tfs*30) in the CTNNB1 gene (NM_001904.4) of the fetus. No phenotypic abnormalities or corresponding gene variations were detected in the parents, suggesting it was a de novo variation. Based on the clinical manifestations, the fetus was diagnosed with a neurodevelopmental disorder accompanied by spastic diplegia and visual defects. Following genetic counseling, the pregnant woman chose to terminate the pregnancy.
2.Establishment and application of drug use evaluation standards for lauromacrogol
Tian HU ; Li JIA ; Yanhua CUI ; Rui WU ; Jinhua ZHANG
Chinese Journal of Pharmacoepidemiology 2024;33(5):500-507
Objective To establish the drug use evaluation(DUE)standard of lauromacrogol,evaluate its clinical use,and provide a reference for rational clinical application.Methods Based on the drug instructions,related relevant guidelines and literature of lauromacrogol,the DUE standard was formulated through the expert consultation method.A retrospective study was conducted to evaluate the drug utilization of lauromacrogol in hospitalized patients in 3 201 Hospital of Xi'an Jiao tong University in Shaanxi province from January 2021 to August 2022.Results A total of 143 medical records were included,48(33.57%)of which fully met the evaluation criteria.Unreasonable use was mainly manifested as inappropriate indications(65.03%)and unsuitable usage and dosage(1.40%).The unreasonable indications are mainly due to the existence of off-label medication.Conclusion The established DUE standard of lauromacrogol has a certain reference effect on the rational use of lauromacrogol in clinical practice.Irrational usages still exists in the clinical application of lauromacrogol in the hospital,and interventions should be developed to optimize its clinical application and promote the rational drug use.
3.Effects of Zuogui Pill on osteoclast activity and expression of miR-133b-3p/RhoA in postmenopausal osteoporosis rats
Haoran HUANG ; Yanhua FENG ; Ruran WANG ; Shengnan HUANG ; Huaying XU ; Yanjiang CUI ; Yuhong WANG ; Hongyan LI ; Jian CAO ; Guoying XU
International Journal of Traditional Chinese Medicine 2023;45(9):1119-1126
Objective:To study the effects of Zuogui Pills on the expressions of miR-133b-3p and RhoA in osteoclasts of postmenopausal osteoporosis rats; To discuss its potential mechanism.Methods:SD female rats were randomly divided into normal group, model group, sham-operation group, and Zuogui Pills group using a random number table method, with 6 rats in each group. The model group and Zuogui Pills group were treated with oophorectomy to construct a rat model of osteoporosis. Zuogui Pills group was orally administered with Zuogui Pills decoction at a concentration of 10 g/kg for 12 consecutive weeks. Colorimetric method was used to measure the serum calcium and phosphorus levels of rats, and ELISA method was used to detect ALP levels. Bone density meter was used to measure the bone density of the femurs of rats in each group. The osteoclast of each group were cultured, and the expressions of RANKL and RUNX2 protein were detected by Western blot. MiRNA sequencing and differential expression analysis were performed on bone tissues of rats. Osteoclasts were treated with miR-133b-3p mimic and its negative control. The cell proliferation activity of osteoclasts was detected by cell counting kit-8 (CCK-8). The osteoclast differentiation activity was detected by the tartrate-resistant acid phosphatase staining. The dual-luciferase reporter assay was used to detect the relationship between miR-133b-3p and RhoA. The "rescue" experiment of miR-133b-3p mimic and RhoA co-expression were used to study the molecular regulatory mechanism of Zuogui Pills on osteoclast activity.Results:Compared with the model group, the bone mineral density of Zuogui Pills group significantly increased ( P<0.05, P<0.01), the levels of calcium and phosphorus in serum increased, the level of alkaline phosphatase ALP decreased ( P<0.05), the expression of RANKL protein decreased, and the expression of RUNX2 protein increased. Sequencing results showed that rno-miR-133b-3p was down-regulated in osteoclasts of postmenopausa osteoporosis rats treated with Zuogui Pills with the maximum difference ( P<0.01). Q-PCR results showed that the expression of miR-133b-3p in osteoclasts of Zuogui Pills group was significantly lower than that of the model group. The upregulation of miR-133b-3p could significantly promote the cell proliferation and differentiation of osteoclasts. RhoA overexpression could reverse the excessive proliferation and differentiation of osteoclasts caused by miR-133b-3p overexpression. Conclusions:RhoA is the target gene regulated by miR-133b-3p. Zuogui Pills can inhibit the activity of osteoclasts by regulating miR-133b-3p/RhoA axis, relieving the symptoms of osteoporosis.
4.Efficacy and Safety of Pulse Magnetic Therapy System in Insomnia Disorder: A Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial
Jiwu LIAO ; Sisi WANG ; Borong ZHOU ; Wei LIANG ; Ping MA ; Min LIN ; Weisen LIN ; Congrui LI ; Xiaotao ZHANG ; Hongyao LI ; Yin CUI ; Jiajia HU ; Yuanyi QIN ; Yanhua DENG ; Aibing FU ; Tianhua ZHU ; Shanlian ZHANG ; Yunhong QU ; Lu XING ; Wumei LI ; Fei FENG ; Xinping YAO ; Guimei ZHANG ; Jiyang PAN
Psychiatry Investigation 2023;20(6):559-566
Objective:
This study’s objective is to assess the efficacy and safety of Pulsed Magnetic Therapy System (PMTS) in improving insomnia disorder.
Methods:
Participants with insomnia disorder were randomly assigned to receive either PMTS or sham treatment for four weeks (n= 153; PMTS: 76, sham: 77). Primary outcomes are the Insomnia Severity Index (ISI) scores at week 0 (baseline), 1, 2, 3, 4 (treatment), and 5 (follow-up). Secondary outcomes are the Pittsburgh Sleep Quality Index at baseline and week 4, and weekly sleep diary-derived values for sleep latency, sleep efficiency, real sleep time, waking after sleep onset, and sleep duration.
Results:
The ISI scores of the PMTS group and the sham group were 7.13±0.50, 11.07±0.51 at week 4, respectively. There was a significant group×time interaction for ISI (F3.214, 485.271=24.25, p<0.001, ηp 2=0.138). Only the PMTS group experienced continuous improvement throughout the study; in contrast, the sham group only experienced a modest improvement after the first week of therapy. At the end of the treatment and one week after it, the response of the PMTS group were 69.7% (95% confidence interval [CI]: 58.6%–79.0%), 75.0% (95% CI: 64.1%–83.4%), respectively, which were higher than the response of the sham group (p<0.001). For each of the secondary outcomes, similar group×time interactions were discovered. The effects of the treatment persisted for at least a week.
Conclusion
PMTS is safe and effective in improving insomnia disorders.
5.Application of CBL teaching based on mind mapping combined with know-want-learned chart in standardized nursing training for neonatal infection
Yanhua CUI ; Yajuan WANG ; Litao GUO ; Yilin JI ; Lei YU
Chinese Journal of Medical Education Research 2023;22(7):1107-1111
Objective:To investigate the application effect of CBL teaching based on mind mapping combined with know-want-learned (KWL) chart in standardized nursing training for neonatal infection.Methods:A total of 58 students who participated in standardized training in Department of Neonatology, Children's Hospital, Capital Institute of Pediatrics, were included in the study and were divided into control group and observation group using a simple random number table, with 29 students in each group. The students in the control group were given traditional teaching, and those in the observation group were given CBL teaching based on mind mapping combined with KWL chart. Assessment score was compared between the two groups, and the two groups were compared in terms of self-directed learning ability, critical thinking ability, and evaluation of teaching effectiveness. SPSS 22.0 was used to perform the chi-square test and the t-test. Results:Both groups had significant increases in the scores of theoretical knowledge (91.65±5.17 vs. 84.58±9.14), clinical skills (89.16±6.24 vs. 83.34±7.40), Self-Rating Scale of Self-Directed Learning (257.23±25.79 vs. 241.56±22.74), and Critical Thinking Disposition Inventory-Chinese Version (317.14±38.50 vs. 285.78±34.71) after training, and the observation group had significantly higher scores than the control group ( P<0.05). The observation group had a significantly higher evaluation of teaching effectiveness than the control group ( P<0.05). Conclusion:CBL teaching based on mind mapping combined with KWL chart can improve the assessment scores of students and improve their self-directed learning ability and critical thinking ability, and students have a high evaluation of teaching effectiveness.
6.Evaluation on the feasibility of total-body PET/CT imaging with short acquisition time in lungs and parenchymal organs
Minjie ZHAO ; Keyu ZAN ; Zhaoping CHENG ; Xiao CUI ; Leiying CHAI ; Kun LI ; Min GE ; Yanhua DUAN
Chinese Journal of Nuclear Medicine and Molecular Imaging 2022;42(12):713-718
Objective:To investigate the effects of total-body PET/CT imaging with short acquisition time on image quality and lesion detectability in lungs and parenchymal organs.Methods:Sixty patients (31 males, 29 females, age (61.1±11.8) years) with pulmonary nodules (PN) and 53 patients (29 males, 24 females, age (56.7±17.2) years) with parenchymal organ lesions (POL) who underwent total-body PET/CT imaging in the First Affiliated Hospital of Shandong First Medical University between October 2021 and April 2022 were retrospectively analyzed. The acquisition time with PET was 600 s, and the reconstructed images were divided into 6 groups based on different duration (30, 60, 120, 180, 300 and 600 s), namely G30, G60, G120, G180, G300 and G600 groups. The subjective analysis was carried out with the 5-point Likert scale in 3 aspects: the overall impression of image quality, noise, and lesion conspicuity. The objective analysis indicators included the SUV mean of the mediastinal blood pool (MBP); the SUV mean, standard deviation (SD) and signal-to-noise ratio (SNR) of the liver; SUV max and target-to-background ratio (TBR) of the lesions. Differences of the indicators among 6 groups were analyzed by Friedman test with Bonferroni correction. G600 served as the reference for the other 5 groups to test their lesion detectability. Results:The subjective image quality of different groups for PN and that of G120, G180, G300 groups for POL could meet the needs of clinical diagnosis in terms of the overall image quality, noise, and lesion conspicuity (all scores>3). There was no significant difference in the SUV mean of MBP among different time groups (median for PN: 1.52-1.56, median for POL: 1.35-1.47; χ2 values: 10.23, 11.02, both P>0.05). Difference was not found in SUV mean of the liver either (median for PN: 2.51-2.56, median for POL: 2.33-2.40; χ2 values: 8.35, 8.93, both P>0.05). The liver SD significantly increased along with the shortened acquisition time ( χ2 values: 400.99, 400.00, both P<0.001; z values: from -16.90 to -3.15, all P<0.003). The SNR significantly decreased along with the shortened acquisition time ( χ2 values: 397.32, 400.00, both P<0.001; z values: 2.98-16.90, all P<0.003). The SUV max (median for PN: 3.55-4.01, median for POL: 5.77-6.08; χ2 values: 8.58, 3.02, both P>0.05) and TBR (median for PN: 2.42-2.81, median for POL: 2.36-2.45; χ2 values: 9.83, 3.69, both P>0.05) of lesion were not significantly different among 6 groups. Taking G600 group as a reference, the lesion detection rates were 100% in G30 group and other 4 groups for PN (81/81) and in G120, G180, G300 groups for POL (80/80). Conclusion:Total-body PET/CT imaging with acquisition time of 30 s for lungs and that with acquisition time of 120 s for parenchymal organs are feasible for clinical use, with the PET image quality and lesion detectability maintained.
7.Contrast-enhanced ultrasonography in evaluation of severity of renal artery stenosis
Yanhua CUI ; Quanbin ZHANG ; Jiping YAN ; Ji WU
Chinese Journal of General Practitioners 2021;20(12):1288-1294
Objective:To investigate the diagnostic value of contrast-enhanced ultrasonography (CEUS) in evaluating the severity of renal artery stenosis.Methods:Eighty six patients with suspected renal artery stenosis admitted to Shanxi Provincial People′s Hospital from January 2018 to July 2021 were enrolled in the study. All patients underwent digital subtraction angiography (DSA), Doppler ultrasonography (DUS) and CEUS examinations. With DSA results as gold standard the sensitivity, specificity, accuracy, positive predictive value (PPV) and negative predictive value (NPV) of CEUS and DUS in the diagnosis of renal artery stenosis were analyzed. The consistency between CEUS and DSA in the diagnosis of renal artery stenosis was evaluated. The accuracy of DUS and CEUS in diagnosis of renal artery stenosis was assessed by the area under receiver operating characteristic (ROC) curve (AUC) and compared between groups.Results:Among 153 renal arteries from 86 patients examined by DSA, 101 showed the stenosis ≥30% (49 left and 52 right renal arteries), and there were 31, 45, 20 and 5 renal arteries with grade I, II, III and IV stenosis. The sensitivity and specificity of DUS in the diagnosis of renal artery stenosis were 74.3% (75/101) and 76.9% (40/52),respectively. DUS showed 21, 42, 20 and 4 renal arteries with grade Ⅰ, Ⅱ, Ⅲ and Ⅳ stenosis, respectively. The sensitivity and specificity of CEUS in the diagnosis of renal artery stenosis were 88.1% (89/101) and 86.5%(45/52), respectively. CEUS showed 26, 43, 23 and 4 renal arteries with grade Ⅰ, Ⅱ, Ⅲ and Ⅳ stenosis, respectively. There was a significant difference between DUS and DSA in grading of renal artery stenosis (χ2=4.447, P=0.03),and there was a moderate consistency between DUS and DSA ( Kappa=0.480). There was no significant difference between CEUS and DSA in grading renal artery stenosis (χ2=0.842, P=0.36) with a good consistency ( Kappa=0.730). The AUC of CEUS in diagnosis of renal artery stenosis was higher than that of DUS [0.873 (95% CI: 0.808-0.938) vs. 0.756 (95% CI:0.673-0.839); Z=4.361, P<0.01]. Conclusion:The study suggests that contrast-enhanced ultrasonography may be used as a diagnostic method for grading renal artery stenosis.
8.Preliminary discussion on the potential mechanism of follistatin-like protein 1 in the process of proliferative diabetic retinopathy
Rui NIU ; Lijie DONG ; Xueli DU ; Yanhua HE ; Zetong NIE ; Weina CUI ; Qiong CHEN ; Bojie HU
Chinese Journal of Ocular Fundus Diseases 2020;36(3):220-226
Objective:To observe the changes of follistatin-like protein 1 (FSTL1) in serum of patients with proliferative diabetic retinopathy (PDR).Methods:Twenty PDR patients confirmed by clinical examination and 20 normal people were included in the study. Human retinal vascular endothelial cells (HRCEC) were divided into HRCEC blank control group, 3 h hypoxia group, 6 h hypoxia group. Human umbilical vein endothelial cell (HUVEC) were divided into HUVEC blank control group, 3h hypoxia group, 6h hypoxia group. Real-time quantitative PCR (RT-PCR) and ELISA were used to determine the expression of FSTL1, TGF-β, VEGF, connective tissue growth factor (CTGF) mRNA and protein in peripheral blood and cells of all groups from all subjects.Results:The expressions of FSTL1, TGF-β1, CTGF, VEGF mRNA in blood samples of patients with PDR were 1.79±0.58, 0.97±0.21, 1.85±0.69 and 1.38±0.44. The expressions of FSTL1, TGF-β1 protein were 1.19±0.50, 0.71±0.24 ng/ml and 734.03±116.45, 649.36±44.23 ng/L. Compared with normal people, the differences were statistically significant ( tmRNA=0.90, 0.21, 2.85, 1.77; P=0.00, 0.00, 0.04, 0.02. tprotein=1.88, 7.68; P=0.00, 0.02). The cell viability of HRCEC cells in the 3 h hypoxia group and the 6 h hypoxia group were 0.66±0.05 and 0.64±0.04, respectively. Compared with the blank control group, the difference was statistically significant ( F=13.02, P=0.00). The cell viability of HUVEC cells in the 3 h hypoxia group and the 6 h hypoxia group were 0.63±0.06 and 0.68±0.06, respectively. Compared with the blank control group, the difference was statistically significant ( F=26.52, P=0.00). Comparison of FSTL1, TGF-β1, CTGF, and VEGF mRNA expression in HRCEC blank control group and 3 h hypoxia group, the differences were statistically significant ( F=14.75, 44.93, 85.54, 6.23; P=0.01, 0.00, 0.00, 0.03). Compared with the HRCEC blank control and 3 h hypoxia group, the expressions of FSTL1 and TGF-β1 protein were statistically significant ( P<0.05). There was a statistically significant difference in TGF-β1 protein expression in the hypoxic 6 h group ( P=0.03) and no significant difference in FSTL1 protein expression ( P=0.68). Comparison of FSTL1, TGF-β1, CTGF, and VEGF mRNA expression in HUVEC blank control group and 3h hypoxia group, the differences were statistically significant ( F=19.08, 25.12, 22.89, 13.07; P=0.00, 0.00, 0.00, 0.01). Immunofluorescence staining results showed that FSTL1, TGF-β1, CTGF, and VEGF proteins were positively expressed in cells in the 3h hypoxia and 6h hypoxia groups. Conclusion:The expression of FSTL1 gene and protein in serum of PDR patients was significantly higher than that of normal people.
9.Diagnosis of glutaric acidemia type ⅡC by fetal whole exome sequencing.
Yanhua ZHEN ; Xuefeng LU ; Jingtao QIU ; Jinquan CUI
Chinese Journal of Medical Genetics 2020;37(10):1139-1142
OBJECTIVE:
To explore the genetic basis of a fetus with enlargement and enhanced echo of the kidneys.
METHODS:
The imaging data of the fetus were collected, in addition with 20 mL amniotic fluid sample and 2 mL peripheral blood samples of both parents. Amniotic DNA was extracted for library construction and whole exome sequencing, and Sanger sequencing was carried out to verify candidate variant associated with the fetal phenotype.
RESULTS:
Prenatal ultrasound showed that the fetus had enlargement and enhanced echo of the kidneys, in addition with many small renal cysts. Whole exome sequencing showed that the fetus carried pathogenic compound heterozygous variants of the ETFDH gene, namely c.3G>C and c.1436dupA. Sanger sequencing of the family suggested that the variants were inherited from its mother and father, respectively.
CONCLUSION
By combining its clinical manifestations and results of whole exome sequencing, the fetus was diagnosed as glutaric acidemia type ⅡC due to the compound heterozygous variants of the ETFDH gene. Above results have provided a basis for prenatal diagnosis and genetic counseling. Fetal exome sequencing has provided an important tool for prenatal diagnosis.
10. Three-dimensional speckle tracking imaging in evaluation on left ventricular systolic function of patients with acute carbon monoxide poisoning
Chinese Journal of Medical Imaging Technology 2019;35(6):848-852
Objective: To evaluate the impact of acute carbon monoxide poisoning on left ventricular systolic function with three-dimensional speckle tracking imaging (3D-STI). Methods: Totally 109 patients with acute carbon monoxide poisoning (study group) were enrolled and divided into mild (n=36), moderate (n=40) and severe (n=33) subgroups. And 105 healthy volunteers were selected as control group. 3D-STI was performed 1 hour and 1 week after poisoning, respectively. The levels of carboxyhemoglobin (HbCO) and serum cardiac troponin I (cTnI) were measured. The difference and correlation of the indexes were analyzed between the study group and the control group. Results: One hour after acute carbon monoxide poisoning, no significant difference of global longitudinal strain (GLS), global area strain (GAS), global circumferential strain (GCS), global radial strain (GRS) nor left ventricular ejection fraction (LVEF) was found between mild subgroup and control group (all P>0.05), while HbCO and cTnI in mild subgroup were higher than those in control group (both P<0.05), GLS and GAS in moderate subgroup were lower than those in control group (both P<0.05), and HbCO, cTnI were higher than those in control group (both P<0.05), GLS, GAS, GCS, GRS and LVEF in the severe subgroup were lower than those in control group (all P<0.05), HbCO and cTnI were higher than those in the control group (both P<0.05). One week after acute carbon monoxide poisoning, there was no significant difference of GLS, GAS, GCS, GRS, LVEF, HbCO nor cTnI among the mild, moderate subgroups and the control group (all P>0.05); GAS in severe subgroup was lower than that in control group (P<0.05), cTnI was higher than that in control group (P<0.05). One hour after acute carbon monoxide poisoning, serum cTnI was negatively correlated with GLS and GAS in the study group (r=-0.626, -0.640, both P<0.05). Conclusion: 3D-STI can early diagnose damage of left ventricular systolic dysfunction caused by acute carbon monoxide poisoning. GAS decreases with the increase of serum cTnI content, which is a good indicator of left ventricular dysfunction in patients with acute carbon monoxide poisoning.

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