2.Exploration of New Susceptible Genes associated with Non-Alcoholic Fatty Liver Disease among Children with Obesity Using Whole Exome Sequencing.
Xiong Feng PAN ; Cai Lian WEI ; Jia You LUO ; Jun Xia YAN ; Xiang XIAO ; Jie WANG ; Yan ZHONG ; Mi Yang LUO
Biomedical and Environmental Sciences 2025;38(6):727-739
OBJECTIVE:
This study aimed to evaluate the association between susceptibility genes and non-alcoholic fatty liver disease (NAFLD) in children with obesity.
METHODS:
We conducted a two-step case-control study. Ninety-three participants were subjected to whole-exome sequencing (exploratory set). Differential genes identified in the small sample were validated in 1,022 participants using multiplex polymerase chain reaction and high-throughput sequencing (validation set).
RESULTS:
In the exploratory set, 14 genes from the NAFLD-associated pathways were identified. In the validation set, after adjusting for sex, age, and body mass index, ECI2 rs2326408 (dominant model: OR = 1.33, 95% CI: 1.02-1.72; additive model: OR = 1.22, 95% CI: 1.01-1.47), C6orf201 rs659305 (dominant model: OR = 1.30, 95% CI: 1.01-1.69; additive model: OR = 1.21, 95% CI: 1.00-1.45), CALML5 rs10904516 (pre-ad dominant model: OR = 1.36, 95% CI: 1.01-1.83; adjusted dominant model: OR = 1.40, 95% CI: 1.03-1.91; and pre-ad additive model: OR = 1.26, 95% CI: 1.04-1.66) polymorphisms were significantly associated with NAFLD in children with obesity ( P < 0.05). Interaction analysis revealed that the gene-gene interaction model of CALML5 rs10904516, COX11 rs17209882, and SCD5 rs3733228 was optional ( P < 0.05), demonstrating a negative interaction between the three genes.
CONCLUSION
In the Chinese population, the CALML5 rs10904516, C6orf201 rs659305, and ECI2 rs2326408 variants could be genetic markers for NAFLD susceptibility.
Humans
;
Non-alcoholic Fatty Liver Disease/genetics*
;
Child
;
Male
;
Female
;
Genetic Predisposition to Disease
;
Case-Control Studies
;
Exome Sequencing
;
Adolescent
;
Polymorphism, Single Nucleotide
;
Obesity/complications*
;
Pediatric Obesity/complications*
;
China
3.Efficacy of see-and-treat hysteroscopy versus traditional hysteroscopy in moderate-to-severe intrauterine adhesions
Qiurong LI ; Huifen CAI ; Yanzhou WANG ; Kangning ZHAO ; Shijing YOU ; Yuan DENG ; Wenwei TAN ; Shuai TANG
Journal of Army Medical University 2025;47(13):1494-1504
Objective To investigate the perioperative outcomes and postoperative pregnancy outcomes of patients with intrauterine adhesions(IUA)treated by see-and-treat hysteroscopy and traditional hysteroscopy in transcervical resection of adhesions(TCRA).Methods A retrospective cohort study was performed on 485 patients with moderate-to-severe IUA who met the inclusion criteria and admitted in our hospital from January 2019 to December 2021.According to surgical approaches,the patients were assigned into a see-and-treat mode group and a traditional mode group.After clinical diagnosis(ultrasound and symptoms)of IUA,the patients from the former group received direct hysteroscopic adhesion separation surgery,and those of the latter group were diagnosed by outpatient hysteroscopy first and then hysteroscopic adhesion separation surgery.The perioperative indicators,postoperative three-dimensional transvaginal ultrasound(3D-TVUS)examination related characteristics,postoperative menstrual recovery,postoperative pregnancy outcomes,obstetric related complications,and neonatal outcomes were collected and compared between the 2 groups.Results Among the enrolled 485 patients,there were 277 in the see-and-treat group and 208 in the traditional group.The success rate of surgical treatment was 89.89%in the see-and-treat group and 92.79%in the traditional group,but no statistical difference was seen between them(Chi-square=1.234,P=0.267).3D-TVUS examination displayed that the see-and-treat mode group obtained better improvement of endometrial morphology,uterine morphology and menstruation after operation than the traditional group(P<0.001).The postoperative pregnancy rate was slightly higher in the see-and-treat group than the traditional mode group(58.84%vs 58.17%,P=0.882).However,the see-and-treat mode showed obvious advantage in the postoperative natural pregnancy rate,with a rate of 90.80%,obviously higher than that in the traditional mode group(81.82%,P=0.026).The live birth rate was 70.55%in the see-and-treat mode group,excluding 1 case with ongoing pregnancy in the second trimester and 1 case with ongoing pregnancy in the third trimester,and the rate was 74.38%in the traditional group,excluding 3 cases with ongoing pregnancy in the third trimester,but there was no statistical difference between the 2 groups(P=0.303).In terms of obstetric-related complications,there were 0 cases of blood transfusion during delivery hospitalization in the see-and-treat group,while there were 7 cases in the traditional group(P=0.003).In neonatal outcomes,the rate of transfer to the pediatric department was 10.43%in the see-and-treat mode group and 22.22%in the traditional mode group(P=0.021).For health economics,the see-and-treat hysteroscopy group demonstrated a significant advantage over the traditional hysteroscopy group(P<0.001).There was no significant difference in pain scores between the 2 groups.Conclusion The see-and-treat approach is a safe,feasible,and highly efficient strategy for integrating the diagnosis and treatment of IUA,enabling maximal minimization of surgical trauma while optimizing time and cost efficiency.
4.The application analysis of dyadicillness management theory in chemotherapy-stage ovarian cancer patients and their spouses
Yanli ZHANG ; Xia WANG ; Jing YOU ; Huiyuan CAI
Chinese Journal of Practical Nursing 2024;40(7):481-486
Objective:To explore the effects of an intervention strategy based on dyadic illness management theory on dyadic coping level, supportive care needs, and patients' disease symptoms with chemotherapy-stage ovarian cancer patients and their spouses, and to provide reference for improving their disease coping ability and quality of life.Methods:This study used the method of randomized controlled trial. Seventy pairs of ovarian cancer patients and their spouses who received regular chemotherapy and their spouses from Obstetrics and Gynecology Hospital, Fudan University from July 2022 to June 2023 were selected using convenience sampling method. They were assigned to the control group (36 pairs) and the observation group (36 pairs) by the random number table method. Participants in the control group received routine nursing care and the observation group received the intervention strategy of dyadic illness management theory. Data were collected and compared the differences in dyadic coping levels, care needs, and disease symptoms between two groups of patients and their spouses before intervention (before chemotherapy) and after intervention (after the end of the chemotherapy cycle). SPSS 20.0 software was used for analysis, and t-tests, χ2 tests, and Wilcoxon rank sum tests were used to compare the two groups. Results:Finally, 36 pairs were included in the control group and 34 pairs in the observation group. The age of the control group patients was (52.03 ± 9.44) years old, while that of the observation group patients was (53.41 ± 10.14) years old. After the intervention, the total score of dyadic coping level in the patients and their spouses of the observation group were (113.50 ± 8.03), (114.62 ± 10.59) points, respectively, which were higher than (106.64 ± 10.06), (108.78 ± 10.89) points of the control group with significant differences ( t=-3.14, -2.27, both P<0.05); the total score of care needs in the patients and their spouses of the observation group were (89.65 ± 8.29), (95.12 ± 7.25) points, respectively, which were lower than (100.25 ± 10.82), (110.11 ± 7.58) points of the control group with significant differences ( t=4.58, 8.45, both P<0.001); the total score of disease symptoms in the patients of the observation group was (20.09 ± 4.70) points, which was lower than (31.53 ± 6.08) points of the control group with significant differences ( t=8.77, P<0.001). Conclusions:The model of dyadic illness management can improve dyadic coping level and supportive care needs of chemotherapy-stage ovarian cancer patients and their spouses, and alleviate patients′ disease symptoms.
5.Different reaction patterns and influencing factors among family caregivers of patients with advanced gynecological malignancies: a latent profile analysis
Yanli ZHANG ; Xia WANG ; Jing YOU ; Huiyuan CAI ; Li WANG
Chinese Journal of Practical Nursing 2024;40(11):801-808
Objective:To explore the different reaction patterns among family caregivers of patients with advanced gynecological malignancies, and to analyze the influencing factors of different profiles.Methods:A cross-sectional study was conducted with 210 family caregivers of patients with advanced gynecological malignancies from Obstetrics and Gynecology Hospital in Shanghai from January 2022 to December 2022. Data were collected by Caregiver Reaction Assessment, Mishel's Uncertainty in Illness Scale-Family Member Form and Perceived Social Support Scale. Latent profile analysis was used to explore the different reaction patterns among family caregivers of patients with advanced gynecological malignancies. The influencing factors of caregiver reaction were identified by multivariate Logistic regression.Results:Totally 208 questionnaires were effectively collected. The family caregivers among patients with advanced gynecological malignancies included 163 males and 45 females, aged (53.89 ± 12.61) years old. The reaction characteristics of 208 family caregivers among patients with advanced gynecological malignancies were divided into three categories: low burden and high benefit group (24.5%, 51/208), moderate burden and benefit group (30.8%, 64/208), and high burden and low benefit group (44.7%, 93/208). Compared to the low burden and high benefit group, caregivers with lower levels of social support were more likely to be classified as moderate burden and benefit group, high burden and low benefit group ( OR = 0.563, 0.407, both P<0.01). Caregivers with moderate burden and benefit group, high burden and low benefit group had higher levels of disease uncertainty ( OR = 1.328, 2.064, both P<0.01). The caregiver′s age, monthly family income, education level, and co-caregivers were also influencing factors regarding to care reaction among family caregivers of patients with advanced gynecological malignancies ( OR values were 0.207-6.422, all P<0.05). Conclusions:The care reaction of family caregivers among patients with advanced gynecological malignancies has obvious categorical features. Healthcare professionals should implement targeted nursing interventions according to their reaction characteristics, so as to reduce the care burden of family caregivers and improve the quality of care for patients with advanced gynecological malignancies.
6.Integrated analyses of transcriptomics and network pharmacology reveal leukocyte characteristics and functional changes in subthreshold depression, elucidating the curative mechanism of Danzhi Xiaoyao powder
Kunyu Li ; Leiming You ; Jianhua Zhen ; Guangrui Huang ; Ting Wang ; Yanan Cai ; Yunan Zhang ; Anlong Xu
Journal of Traditional Chinese Medical Sciences 2024;11(1):3-20
Objective:
To investigate the molecular mechanism and identify potential drugs for subthreshold depression (SD), and elucidate the detalied mechanism of Danzhi Xiaoyao powder (DZXY) in SD.
Methods:
Using RNA-sequencing, we identified differentially expressed genes (DEGs) in leukocytes of SD compared to healthy controls, deciphered their functions and pathways, and identified the hub genes of SD. We also assessed changes in leukocyte transcription factor activity in patients with SD using the TELiS platform. The Connectivity Map database was retrieved to screen candidate drugs for SD. Based on network pharmacology, we elucidated the “multi-component, multi-target, and multi-pathway” mechanism of DZXY in the treatment of SD.
Results:
We identified 1080 DEGs (padj <0.05 and |log2 (fold change)| ≥ 1 & protein coding) in the leukocytes of patients with SD. These DEGs, including hub genes, were primarily involved in immune and inflammatory response-related processes. Transcription factor activity analysis revealed similarities between the leukocyte transcriptome profile in SD and the conserved transcriptional response to adversities in immune cells. Connectivity Map analysis identified 28 potential drugs for SD treatment, particularly SB-202190 and TWS-119. Constructing the “Direct Compounds-Direct Targets-Pathways” network for DZXY and SD revealed the curative mechanisms of DZXY in SD, primarily including inflammatory response, lipid metabolism, immune response, and other processes.
Conclusion
These results provide new insights into the characteristics and functional changes of leukocytes in SD, partially illustrate the pathogenesis of SD, and suggest potential drugs for SD. The curative mechanisms of DZXY in SD are also partially elucidated.
7.Expert consensus on the use of vitamins in parenteral nutrition for adults
Chinese Nutrition Society for Medical Food and Nutrition Support ; Chinese Society for Parenteral and Enteral Nutrition ; Shanghai Medical Society for Parenteral and Enteral Nutrition ; Society Nutrition SHANGHAI ; Wei CAI ; Hua YANG ; Xin-Ying WANG ; You-Sheng LI
Parenteral & Enteral Nutrition 2024;31(4):193-210
Vitamins,as important micronutrients widely involved in human physiological functions,play a significant role in parenteral nutrition therapy due to their inability to be synthesized or insufficient synthesis in the body,requiring exogenous supplementation. However,a consensus does not exist in China regarding the dosage and monitoring of vitamins in parenteral nutrition. Experts in the field are recruited by Chinese Nutrition Society for Medical Food and Nutrition Support,Chinese Society for Parenteral and Enteral Nutrition (CSPEN),Shanghai Medical Association for Parenteral and Enteral Nutrition and the Shanghai Nutrition Society to formulate a consensus paper.The current paper aims to provide standardized guidance for clinical use of vitamins in parenteral nutrition. The consensus paper is a composite of systematically reviewing pertinent literature,Chinese clinical practice and multiple sessions of debate,discussion,and composition,with reference to guidelines from European Society for Parenteral and Enteral Nutrition (ESPEN),American Society for Parenteral and Enteral Nutrition (ASPEN),Australasian Society for Parenteral and Enteral Nutrition (AuSPEN) and CSPEN.This includes 37 recommendations regarding the recommended dosage and monitoring of fat-soluble vitamins (vitamins A,D,E,K) and water-soluble vitamins (vitamin C and vitamins B1,B2,B6,B12,niacin,pantothenic acid,biotin,and folate) to serve varied adult parenteral nutrition patients.
8.Construction and preliminary application of a case management practice program for ovarian cancer patients
Yan-Li ZHANG ; Xia WANG ; Jing YOU ; Lan YANG ; Hui-Yuan CAI
Fudan University Journal of Medical Sciences 2024;51(5):667-676
Objective To develop a nurse-led case management practice program for ovarian cancer patients,and to investigate its application effect initially.Methods The case management practice model of ovarian cancer was formed through literature analysis,qualitative research and expert meeting method.Ovarian cancer patients who were given conventional nursing interventions from Aug 2022 to Jun 2023 and from Jul 2023 to Mar 2024 in Obstetrics and Gynecology Hospital,Fudan University were selected as the control group(n=16)and the intervention group(n=16).The patients'supportive care needs,disease symptoms and unplanned readmission rates were compared before and after intervention between two groups.Supportive Care Needs Survey Shortform 34(SCNS-SF34)was used to collect patients'supportive care needs,and M.D.Anderson Symptom Inventory(MDASI)was used to assess disease symptoms.Results The ovarian cancer case management practice program was constructed and revised to determine the qualification and professional competence of the ovarian cancer case manager,the core of practice,and the specific implementation pathway.After intervention,the total score and scores of all dimensions of SCNS-SF34 in the intervention group were lower than those of the control group(P<0.001),the total score and scores of all dimensions of MDASI in the intervention group were lower than those of the control group(P<0.05).There was no statistically significant difference in unplanned readmission rates between the two groups.Conclusion The case management practice program for ovarian cancer patients was constructed with scientific validity,which can effectively meet the care needs of patients and alleviate their disease symptoms.
9.The development of oncology genetic nurses abroad and its enlightenment to advanced nursing practice in China
Xia WANG ; Jing YOU ; Yue-Jiao ZHAO ; Hui WANG ; Hui-Yuan CAI
Fudan University Journal of Medical Sciences 2024;51(5):837-844
With the development of genetics and advances in genetic testing technology,the demand for cancer genetic counseling has increased dramatically.Advanced practice nurses play a key role in personalized health care delivery.The oncology genetic nurse-led genetic counseling services in foreign countries are becoming more and more mature,but in China,the work of oncology genetic counseling started late,and the combination of genetics/genomics with nursing is still in its infancy.There is still a lack of relevant research on oncology genetic nurses.This article introduced the qualification certification,core competence and clinical practice content of foreign oncology genetic nurses,and summarized the clinical practice effect of oncology genetic nurses and the enlightenment to China's advanced nursing practice,which provided references for the construction of oncology genetic nurses training programs and clinical service models suitable for China's national conditions,so as to meet the needs of the development of advanced nursing practice and the growing demand for precision oncology and high-quality genetic medical care.
10.Rigid-body inverse dynamics modelling and analysis of 6RSS parallel bio-inspired masticatory robot
Chen CHENG ; Xiao-Jing YUAN ; Neng-Jun YANG ; Gen-Liang HOU ; Fan-Qi ZENG ; You-Cai WANG ; Wei-Peng LUO ; Guan ZHAO
Chinese Medical Equipment Journal 2024;45(3):16-22
Objective To carry out rigid-body inverse dynamics modelling and analysis of a self-designed 6RSS parallel bio-inspired masticatory robot.Methods Firstly,the functions of kinematic variables including translational/rotational velocities and accelerations were derived for rigid-body inverse dynamics modelling.Secondly,the rigid-body inverse dynamics model was established with the Newton-Euler's law.Finally,the chewing motion trajectories of the oral health volunteers were tracked and numerical calculations were carried out in the case where the robot was subjected to a chewing reaction force.Results Numerical calculations showed that the driving torque and the constraint force of the robot peaked when the chewing reaction force was at its maximum.Conclusion The external force has a large impact on the inverse dynamics of the robot,and theoretical references are provided for the motion control and optimal design of the robot.[Chinese Medical Equipment Journal,2024,45(3):16-22]


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