1.Clinical and genetic analysis of two children with TANC2 gene variants and a literature review
Manman CHU ; Dan XU ; Jiayang XIE ; Xiaoli ZHANG ; Mengyue WANG ; Jialin LI ; Yichao MA ; Xiaoli LI ; Junling WANG ; Tianming JIA
Chinese Journal of Medical Genetics 2024;41(10):1195-1200
Objective:To explore the clinical and genetic characteristics of two children with Neurodevelopmental disorders (NDDs) due to variants of TANC2 gene. Methods:Clinical data of two children who were admitted to the Third Affiliated Hospital of Zhengzhou University respectively in April 2020 and April 2021 were retrospectively analyzed. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. By using " TANC2 gene", "Neurodevelopmental disorders", "Nervous system development disorders", " TANC2" as the key words, similar cases were searched from the CNKI, Wanfang database platform and PubMed database, with the search time set as from the establishment of the database to December 2023. This study was approved by Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No. 2020-57). Results:Case 1 was a 1-year-and-3-month-old girl who had developed convulsions at 1 year old and had three episodes of seizures. Her epilepsy had resolved with the treatment of oxcarbazepine, which was stopped at the age of 2-year-and-7-month. Her language, movement and intelligence development were all normal. Case 2 was a 1-year-and-10-month-old boy, who had developed convulsions at 1 year old. His seizure type was myoclonus, and the frequency was dozens of times a day. His epilepsy had resolved with the treatment of sodium valproate. His language, movement and intelligence development was delayed for about half a year. Genetic analysis showed that both children had harbored novel variants of the TANC2 gene (NM_025185.4), including c. 3398G>A (p.Gly1133Glu) and c.2829+ 1G>A, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the former was rated as likely pathogenic (PS2+ PM2_Supporting+ PP3) and the latter was rated as pathogenic (PVS1+ PS2+ PM2_Supporting). Two previous reports were retrieved, which had involved 17 cases and 16 variants. Common features had included autism spectrum disorder (70.6%, 12/17), intellectual disability (94.1%, 16/17), language and motor retardation (88.2%, 15/17; 58.8%, 10/17), facial dysmorphism, epilepsy, ataxia, and thoracic and spinal deformities. Conclusion:Variants of the TANC2 gene probably underlay the epilepsy and development delay in these children with NDDs.
2.Study on the risk of diabetes mellitus in ABO blood type
Yalan ZHANG ; Xin WANG ; Li SUN ; Jiayang SHI ; Zhen CHENG ; Zongtao CHEN
Chongqing Medicine 2024;53(9):1360-1364
Objective To investigate the risk of diabetes mellitus in ABO blood type.Methods The da-ta of 1306397 healthy physical subjects in the Department of Health Management of the First Affiliated Hos-pital of Army Medical University from 2006 to 2018 were retrospectively analyzed,including gender,age, height,weight,blood glucose,blood lipid and ABO blood type.A total of 61296 subjects with both blood type and fasting blood glucose data were selected as the study population.Multivariable logistic regression was used to analyze the risk of diabetes in different ABO blood types.Results There were significant differences in gender,age and BMI distribution between the total population and the study population (P<0.05).The num-ber of patients with diabetes and prediabetes in the study population was 2649 (4.3%) and 3979 (6.5%),re-spectively.There were significant differences in the distribution of cholesterol,low-density lipoprotein choles-terol (LDL-C),diabetes and pre-diabetes among people with different blood types (P<0.05).Multivariate lo-gistic regression analysis showed that compared with type O blood,type A blood had an increased risk of dia-betes (OR=1.38,95%CI:1.02-1.86,P=0.04),while type B blood (OR=1.28,95%CI:0.93-1.77,P=0.13) and type AB blood (OR=1.33,95%CI:0.83-2.11,P=0.23) did not increase the risk of diabetes. Conclusion Early screening of type A blood population and preventive treatment and intervention can be used to reduce the incidence of diabetes.
3.Preliminary construction of Professional Standards for Sexuality Education Teachers in Kindergarten in China
LI Jiayang, LIU Wenli, LI Yiyang
Chinese Journal of School Health 2024;45(11):1541-1544
Objective:
To establish the Professional Standards for Sexuality Education Teachers in Kindergarten in China, so as to provide a basis for strengthening the construction of the sexuality education teacher team in kindergartens and promoting the smooth implementation of sexuality education in kindergartens.
Methods:
According to the Professional Standards for Kindergarten Teachers (Trial), combined with the existing research and practice results in the field of sexuality education at home and abroad and the development status of kindergarten sexuality education in China, the indicators and specific contents of Professional Standards for Sexuality Education Teachers in Kindergarten in China were selected. In September 2021, two rounds of Delphi expert consultation method were adopted to collect suggestions on professional standards from 34 experts in the field of sexuality education in China, and modifications were made according to the importance scores assessed by experts and specific suggestions until expert opinions converged. Then, the analytic hierarchy process (AHP) was used to assign weights to each indicator at each level, based on the relative importance between each two indicators at the same level as assessed by experts.
Results:
The Professional Standards for Sexuality Education Teachers in Kindergarten in China were initially established, including 3 primary indexes (professional concept, professional ability and professional knowledge), 7 secondary indexes and 27 tertiary indexes. The recovery rate of the two rounds of consultation documents was 100%, indicating that the experts were highly motivated. The authority coefficient of 2 rounds of expert consultation were both greater than 0.70, proving that the consultation results were reliable. The index weights of the three dimensions of professional concept, professional knowledge and professional ability were 0.44, 0.32 and 0.25, respectively.
Conclusion
The content of the Professional Standards for Sexuality Education Teachers in Kindergarten in China is complete, and the minimum qualified standard for kindergarten teachers engaged in sexuality education is determined.
4.Chlorogenic acid ameliorates heart failure by attenuating cardiomyocyte ferroptosis
Kai Huang ; Fanghe Li ; Jiayang Tang ; Haiyin Pu ; Vasily Sukhotukov ; Alexander N Orekhov ; Shuzhen Guo
Journal of Traditional Chinese Medical Sciences 2024;11(2):191-198
Objective:
To elucidate the effects of chlorogenic acid (CGA), a bioactive polyphenol compound prevalent in traditional Chinese medicine and various foods, including Lonicera japonica Thunb. (Jin Yin Hua), Eucommia ulmoides Oliv. (Du Zhong Ye), tea, and coffee, on cardiomyocyte ferroptosis and heart failure.
Methods:
We assessed the effect of CGA on cardiac function using a mouse model of heart failure induced by transverse aortic constriction (TAC). These indicators included the left ventricular ejection fraction (LVEF), fractional shortening (LVFS), end-systolic volume (LVESV), end-diastolic volume (LVEDV), end-systolic diameter (LVESD), and end-diastolic diameter (LVEDD). An isoprenaline hydrochloride (ISO)-induced H9c2 cardiomyocyte cell model was also established, and the cells were treated with various concentrations of CGA. To assess the effect of CGA on ferroptosis in cardiomyocytes, we measured cell viability and evaluated the levels of intracellular reactive oxygen species (ROS), ferrous ions (Fe2+), and lipid peroxidation using fluorescent staining. To clarify the ferroptosis signaling pathway regulated by CGA, western blotting was used to examine the expression of ferroptosis biomarkers, specifically solute carrier family 7 member 11 (SLC7A11) and glutathione peroxidase 4 (GPX4), in H9c2 cardiomyocytes and mouse myocardial tissues.
Results:
CGA significantly enhanced cardiac performance indices such as LVEF, LVFS, LVESV, LVEDV, LVESD, and LVEDD. H9c2 cardiomyocytes exposed to ISO showed decreased cell viability and increased ROS levels, Fe2+ content, and lipid peroxidation levels. However, CGA treatment significantly ameliorated these changes. Additionally, in both H9c2 cardiomyocytes and myocardial tissue obtained from mice with TAC, CGA increased the expression of ferroptosis-related proteins, including SLC7A11 and GPX4.
Conclusion
CGA has the potential to enhance cardiac function and diminish lipid peroxidation and ROS levels in cardiomyocytes via the SLC7A11/GPX4 signaling pathway. This process alleviates ferroptosis in cardiomyocytes. These results provide new insights into the clinical use of CGA and the management of heart failure.
5.Investigation of Effect of Different Processed Products of Atractylodes chinensis Rhizoma on Rats with Spleen Deficiency Based on Pharmacodynamics and Metabolomics
Jiayang LING ; Yang BAI ; Yang QU ; Mingyang CUI ; Xingyi LI ; Qian CAI
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(7):179-188
ObjectiveTo clarify the differences in the efficacy and mechanism of different processed products of Atractylodes chinensis rhizoma by the pharmacodynamics and metabolomics studies of raw, bran-fried and rice water-processed products on rats with spleen deficiency. MethodSixty male SD rats were randomly divided into blank group, model group, raw product group(3.75 g·kg-1), bran-fried product group(3.75 g·kg-1), rice water-processed product group(3.75 g·kg-1) and Shenling Baizhusan group(6.7 g·kg-1), with 10 rats in each group. The method of excessive fatigue+improper diet was used to establish a spleen deficiency model in rats. After the end of modeling, except for the blank and model groups, each dosing group was given the corresponding drug suspension, the immune organ coefficients of each group of rats were examined, the levels of interleukin-6(IL-6), tumor necrosis factor-α(TNF-α), immunoglobulin G(IgG), amylase(AMS), motilin(MTL), gastrin(GAS), Na+-K+-adenosine triphosphatase(ATPase), aquaporin 2(AQP2), AQP3 and AQP8 in rats were measured by enzyme-linked immunosorbent assay(ELISA). Ultra high performance liquid chromatography-quadrupole-time-of-flight tandem mass spectrometry(UPLC-Q-TOF-MS) combined with orthogonal partial least squares-discriminant analysis(OPLS-DA) were used to search for biomarkers in the plasma samples of spleen-deficient rats by using two criteria[P<0.05 and variable importance in the projection(VIP) value>1], and to compare the different modulatory effects of the three decoction pieces on the splenic-deficient biomarkers, and metabolic pathway analysis was conducted through the Kyoto Encyclopedia of Genes and Genomes(KEGG) database. ResultCompared with the blank group, the thymus index and spleen index of rats in the model group were significantly decreased(P<0.05), the levels of IL-6, TNF-α, IgG and AQP2 were significantly increased(P<0.05), the levels of AMS, GAS, MTL, AQP3, AQP8 and Na+-K+-ATPase were significantly decreased(P<0.05). Compared with the model group, raw products, bran-fried products and rice water-processed products all increased thymus index and spleen index(P<0.05), decreased IL-6, TNF-α, IgG and AQP2 levels(P<0.05), and increased AMS, GAS, MTL, AQP3, AQP8 and Na+-K+-ATPase levels to different degrees. A total of 176 differential metabolites were screened in the model group compared with the blank group, of which 75, 72 and 84 biomarkers were called back by the raw products, bran-fried products and rice water-processed products, respectively(P<0.05, P<0.01). Raw products of A. chinensis rhizoma mainly affected glycine, serine and threonine metabolism. Bran-fried products mainly affected alanine, aspartate and glutamate metabolism, D-arginine and D-ornithine metabolism. Rice water-processed products mainly affected glycine, serine and threonine metabolism, alanine, aspartate and glutamate metabolism, citrate cycle, thiamine metabolism, D-arginine and D-ornithine metabolism. ConclusionRaw products, bran-fried products and rice water-processed products of A. chinensis rhizoma all have good spleen strengthening effects, among which the effects of bran-fried products and rice water-processed products were stronger. Meanwhile, raw products has the strongest dryness, followed by bran-fried products, and the weakest dryness of rice water-processed products. The three decoction pieces are able to significantly modulate metabolic abnormalities in spleen-deficient rats, and the mechanism may be related to amino acid metabolism such as glycine, serine and threonine metabolism as well as alanine, aspartate and glutamate metabolism.
6.Sexuality education at kindergarten and primary and secondary school setting across China
LIU Wenli, LI Jiayang, LI Yiyang
Chinese Journal of School Health 2024;45(1):46-50
Objective:
To understand the current situation of school based sexuality education, attitudes and evaluations of teachers and students toward sexuality education, so as to provide evidence for promoting the development of school based sexuality education.
Methods:
From September to October 2021, 2 140 valid data from students in basic education and 2 146 from kindergarten and primary and secondary school teachers were collected by online questionnaire. The data were described and statistically analyzed, and the influencing factors of teachers willingness to teach sexuality education courses were explored by logistic regression analysis.
Results:
About 52.06% of the students had not received sexuality education in school, and 47.53% of the teachers did not carry out sexuality education in the school. Sexuality education in schools mainly focuses on reproductive health and physical development. About 48.93% of the teachers thought that the implementation of sexuality education in schools was not good, and the proportion of high school students who thought sexuality education in schools were "very bad" (32.87%) or "not very good" ( 21.23 %) was the highest. The teachers who undertook sexuality education were mainly mental health teachers (55.51% reported by teachers, 43.96% reported by students). About 71.02% of teachers believe that the best way to carry out sexuality education classes was to set up sexuality education curriculum. Students and teachers reported the need for sexuality education, and more than 50% of primary school students and high school students thought that sexuality education were "very needed" and "somewhat needed". About 51.77 % of teachers considered sexuality education "very urgent". All increased recognition of sexuality education, confidence in answering sex questions, external support for sexuality education, and acceptance of sexuality education training increased the likelihood of teachers teaching sexuality education ( OR =1.02, 1.95, 1.03, 3.53, P <0.05).
Conclusion
The current situation of school based sexuality education is not optimistic, the gap between sexuality education and students needs is wide, and the abilities of sexuality education teachers are insufficient.
7.Application of 3D-printed bredigite scaffolds in Onlay graft in rats
Journal of Prevention and Treatment for Stomatological Diseases 2023;31(1):17-22
Objective :
To evaluate the osteogenic effects of using a 3D-printed bredigite(BRT) bone scaffold on the Onlay graft in rats.
Methods:
BRT scaffold material was fabricated by 3D printing technology as the experimental group, β-tricalcium phosphate(β-TCP) bone scaffolds were used as the control group. The scaffolds were characterized by scanning electron microscopy (SEM), X-ray diffraction (XRD), mechanical test and in vitro degradation test. An animal model of Onlay graft in SD rats was established. According to the different grafts, the animal model was divided into autogenous bone transplantation group (Auto Group), β- TCP group and BRT group. At 12 weeks after the operation, the target line was obtained for gross observation, micro CT scanning and analysis, and HE staining histological analysis.
Results:
BRT scaffolds have distinctive surface topographywith relatively uniformly sized pores in SEM imaging. A higher mechanical strength and degradation rate was obtained with BRT scaffolds(46.80 ± 3.44) MPa, compared to β-TCP scaffolds(11.29 ± 1.30) MPa (P<0.001). At day 35 in vitro, the mass of BRT was degraded 27.18% ± 1.41%, and the Ca, Mg and Si ion concentrations were maintained at a high level in BRT group. Micro CT and histological quantitative results showed that the proportion of bone regeneration in BRT group was 16.83% ± 2.11% and 19.08% ± 2.17%, respectively, which was higher than that in the β- TCP group (8.48% ± 1.85%, 10.81% ± 1.33%) (P < 0.05).
Conclusion
3D-printed BRT scaffolds promote bone regeneration in the Onlay graft.
8.Effects of rapid drug sensitivity testing for multidrug-resistant bacteria on the prognosis of patients with severe intra-abdominal infection
Jiajie WANG ; Jiayang LI ; Wenqi WU ; Mingjie QIU ; Cunxia WU ; Zhitao ZHOU ; Meilin WU ; Sai TIAN ; Lei WU ; Jinpeng ZHANG ; Zherui ZHANG ; Ruixia TIAN ; Zhiwu HONG ; Huajian REN ; Gefei WANG ; Xiuwen WU ; Jian'an REN
Chinese Journal of Gastrointestinal Surgery 2023;26(9):847-852
Objective:To examine the clinical value of rapid detection of drug-resistant bacteria by immunochromatography and the effects of rapid detection on the prognosis of patients with severe intra-abdominal infection complicated by carbapenem-resistant Enterobacteriaceae (CRE) bloodstream infection.Methods:This was a retrospective cohort study. We analyzed clinical data of 73 patients with severe abdominal infections with sepsis or septic shock complicated by CRE bloodstream infection admitted to the general surgery department of Jinling Hospital between February 2022 and February 2023. Patients were divided into a colloidal gold immunochromatographic assay (GICA) group (17 patients) and conventional testing group (56 patients) based on whether a GICA for CRE had been performed on the patients' first blood culture sample during the diagnosis and treatment process. There were no statistically significant differences between the GICA and conventional testing groups in age ([55.9±17.3] vs. [47.6±16.4] years), sex ([16 men vs. one woman ] vs. [41 men vs. 15 women]), median Charlson comorbidity index (3.0[2.0,4.0] vs. 3.0[2.0, 4.8]), septic shock (10 vs. 39), or acute kidney injury (8 vs. 40) (all P>0.05). Both groups routinely underwent traditional bacterial identification and drug susceptibility testing. Additionally, patients in the GICA group were tested directly for positive blood cultures using a GICA carbapenemase test kit. The main outcomes were mortality rates on Days 28 and 90 after the first identification of CRE bloodstream infection in both groups. We also compared the microbial clearance rate, duration of hospitalization and intensive care unit stay, and time from onset of CRE bloodstream infection to initiation of targeted and appropriate antibiotics between the two groups. Results:The rate of microbial clearance of bloodstream infection was significantly greater in the GICA group than in the conventional testing group (15/17 vs. 34/56 [60.7%], χ 2=4.476, P=0.034), whereas the 28-day mortality tended to be lower in the GICA than conventional testing group [5/17 vs. 44.6% [25/56], χ 2=1.250, P=0.264). The 90-day mortality (8/17 vs. 53.6% [30/56], χ 2=0.222, P=0.638), median duration of hospitalization (37.0 [18.0, 46.5] days vs. 45.5 [32.2, 64.8] days, Z=-1.867, P=0.062), and median duration of intensive care unit stay (18.0 [6.5, 35.0] days vs. 32.0 [5.0, 51.8] days, Z=-1.251, P=0.209). The median time between the onset of bloodstream infection and administration of antibiotics was 49.0 (38.0, 69.0) hours in the GICA group, which is significantly shorter than the 163.0 (111.8, 190.0) hours in the conventional testing group ( Z=-5.731, P<0.001). The median time between the onset of bloodstream infection and administration of appropriate antibiotics was 40.0 (34.0, 80.0) hours in the GICA group, which is shorter than in the conventional testing group (68.0 [38.2, 118.8]) hours; however, this difference is not statistically significant ( Z=-1.686, P=0.093). Conclusions:GICA can provide information on carbapenemase- producing pathogens faster than traditional drug sensitivity testing, enabling early administration of the optimal antibiotics. The strategy of 'carbapenemase detection first' for managing bacterial infection has the potential to improve prognosis of patients and reduce mortality rate.
9.Effects of rapid drug sensitivity testing for multidrug-resistant bacteria on the prognosis of patients with severe intra-abdominal infection
Jiajie WANG ; Jiayang LI ; Wenqi WU ; Mingjie QIU ; Cunxia WU ; Zhitao ZHOU ; Meilin WU ; Sai TIAN ; Lei WU ; Jinpeng ZHANG ; Zherui ZHANG ; Ruixia TIAN ; Zhiwu HONG ; Huajian REN ; Gefei WANG ; Xiuwen WU ; Jian'an REN
Chinese Journal of Gastrointestinal Surgery 2023;26(9):847-852
Objective:To examine the clinical value of rapid detection of drug-resistant bacteria by immunochromatography and the effects of rapid detection on the prognosis of patients with severe intra-abdominal infection complicated by carbapenem-resistant Enterobacteriaceae (CRE) bloodstream infection.Methods:This was a retrospective cohort study. We analyzed clinical data of 73 patients with severe abdominal infections with sepsis or septic shock complicated by CRE bloodstream infection admitted to the general surgery department of Jinling Hospital between February 2022 and February 2023. Patients were divided into a colloidal gold immunochromatographic assay (GICA) group (17 patients) and conventional testing group (56 patients) based on whether a GICA for CRE had been performed on the patients' first blood culture sample during the diagnosis and treatment process. There were no statistically significant differences between the GICA and conventional testing groups in age ([55.9±17.3] vs. [47.6±16.4] years), sex ([16 men vs. one woman ] vs. [41 men vs. 15 women]), median Charlson comorbidity index (3.0[2.0,4.0] vs. 3.0[2.0, 4.8]), septic shock (10 vs. 39), or acute kidney injury (8 vs. 40) (all P>0.05). Both groups routinely underwent traditional bacterial identification and drug susceptibility testing. Additionally, patients in the GICA group were tested directly for positive blood cultures using a GICA carbapenemase test kit. The main outcomes were mortality rates on Days 28 and 90 after the first identification of CRE bloodstream infection in both groups. We also compared the microbial clearance rate, duration of hospitalization and intensive care unit stay, and time from onset of CRE bloodstream infection to initiation of targeted and appropriate antibiotics between the two groups. Results:The rate of microbial clearance of bloodstream infection was significantly greater in the GICA group than in the conventional testing group (15/17 vs. 34/56 [60.7%], χ 2=4.476, P=0.034), whereas the 28-day mortality tended to be lower in the GICA than conventional testing group [5/17 vs. 44.6% [25/56], χ 2=1.250, P=0.264). The 90-day mortality (8/17 vs. 53.6% [30/56], χ 2=0.222, P=0.638), median duration of hospitalization (37.0 [18.0, 46.5] days vs. 45.5 [32.2, 64.8] days, Z=-1.867, P=0.062), and median duration of intensive care unit stay (18.0 [6.5, 35.0] days vs. 32.0 [5.0, 51.8] days, Z=-1.251, P=0.209). The median time between the onset of bloodstream infection and administration of antibiotics was 49.0 (38.0, 69.0) hours in the GICA group, which is significantly shorter than the 163.0 (111.8, 190.0) hours in the conventional testing group ( Z=-5.731, P<0.001). The median time between the onset of bloodstream infection and administration of appropriate antibiotics was 40.0 (34.0, 80.0) hours in the GICA group, which is shorter than in the conventional testing group (68.0 [38.2, 118.8]) hours; however, this difference is not statistically significant ( Z=-1.686, P=0.093). Conclusions:GICA can provide information on carbapenemase- producing pathogens faster than traditional drug sensitivity testing, enabling early administration of the optimal antibiotics. The strategy of 'carbapenemase detection first' for managing bacterial infection has the potential to improve prognosis of patients and reduce mortality rate.
10.Asymptomatic cerebral artery stenosis and cognitive impairment
Jiayang LI ; Ying WANG ; Yuanyuan ZHANG
International Journal of Cerebrovascular Diseases 2023;31(3):225-230
Asymptomatic cerebral artery stenosis (aCAS) is closely associated with cognitive impairment, which can lead to multiple cognitive domain impairments, thereby affecting the behavior and daily life of patients. This article reviews the main involved cognitive domains, injury mechanisms, and treatment in different types of aCAS, with the aim of increasing attention to aCAS, early clinical intervention, and delaying cognitive deterioration.


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