1.A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review
Min ZHAO ; Zhou SHU ; Tongxin HAN ; Yanhua FU ; Tianji GAO ; Huawei MAO
JOURNAL OF RARE DISEASES 2024;3(4):453-460
To explore the clinical and genetic features of Aicardi-Goutières syndrome (AGS) caused by We analyzed the clinical features and genetic mutation results of a boy with AGS type 7 and conducted a retrospective review of the literature of the characteristics and clinical features of In the case of this report, the patient, 13-year-old boy, exhibited gait abnormalities at age 3. As the condition was progressive, the boy has paraplegia of the lower limbs. The first brain MRI showed no lesions.Rehabilitation therapy in the past several years has shown no improvement.Recent brain CT revealed multiple intracranial calcifications. The whole-exome sequencing identified a heterozygous mutation in the AGS7 is a type of I interferonopathy. Growth retardation and nervous system involvement are the most prevalent.The condition usually involve the skin, blood system, digestive system, kidney, heart, and other organs. JAK inhibitors prove effective for this disease.
2.Study on the relationship between HSP70 polymorphism and susceptibility to occupational noise-induced hearing loss
Chunjiao XIE ; Yanru LI ; Lili HUANG ; Yanhua LI ; Yingmei LIU ; Huifen FU ; Zhi WANG
China Occupational Medicine 2024;51(1):25-30
ObjectiveTo investigate the correlation between genetic polymorphism of heat shock proteins 70 (HSP70) and susceptibility to occupational noise-induced hearing loss (ONIHL). Methods A total of 229 ONIHL workers were selected as the case group and 229 healthy workers with similar age, years of noise exposure, and noise exposure levels were selected as the control group using the case-control study method. Occupational health examinations were conducted on both groups, and peripheral blood of individuals was collected for DNA extraction. The genotypes of three single nucleotide polymorphisms of the HSP70 were detected using the MassArray system. Results The allele frequency distribution of HSP70 rs2227956, rs1043618, and rs1061581 in the control group was in Hardy-Weinberg equilibrium (all P>0.05). The genotype and allele frequency distribution of rs2227956 was significantly different between the two groups (all P<0.05), while no significant difference was found for rs1043618 and rs1061581 (all P>0.05). After adjusting for age, years of noise exposure, individual noise exposure level, smoking, and drinking, individuals with AG and AG+GG genotypes of rs2227956 had a higher risk of ONIHL than those with AA genotype (all P<0.05). The risk of ONIHL was higher in individuals with G allele of rs2227956 than in those with A allele (P<0.05). No correlation was found between rs1043618 and rs1061581 polymorphisms and the risk of ONIHL (all P>0.05). Conclusion The rs2227956 polymorphism of the HSP70 gene is correlated with susceptibility to ONIHL in noise-exposed workers, and the G allele is a risk factor for ONIHL in this population.
3.Effect of MEIS1 expression on survival in patients after radical gastrectomy and its value in prognostic evaluation
Jiaxin YI ; Yangyu ZHANG ; Yingli FU ; Yuchen PAN ; Yongjie HAN ; Jing JIANG ; Yanhua WU
Journal of Jilin University(Medicine Edition) 2024;50(5):1358-1364
Objective:To discuss the postoperative survival of the gastric cancer patients with different expression levels of myeloid ecotropic viral integration site 1(MEIS1),and to analyze the predictive value of MEIS1 expression in the prognosis evaluation of gastric cancer.Methods:In a gastric cancer survival cohort,215 patients who underwent radical gastrectomy were selected.Immunohistochemical staining was used to detect the expression levels of MEIS1 in both gastric cancer and adjacent normal tissues.The relationship between expression level of MEIS1 and the clinicopathological characteristics of the patients were analyzed by x2 test or Fisher's exact probability method;survival curves were plotted by Kaplan-Meier method;the differences in survival of the patients between MEIS1 high expression group and MEIS1 low expression group were compared by Log-rank test;multivariate Cox proportional hazards regression model was used to calculate the hazard ratios(HR)and 95%confidence intervals(CI)to assess the relationship between MEIS1 expression level and the survival of the gastric cancer patients.Results:The immunohistochemical staining result showed that the expression level of MEIS1 in gastric cancer tissue was decreased.The univariate analysis results showed that the patients with high MEIS1 expression had a longer overall survival than those with low expression(P=0.049),and had a better prognosis.The multivariate Cox proprotional hazards regression analysis results showed that the low MEIS1 expression and high TNM stage were the independent risk factors for poor prognosis of the patients with gastric cancer(HR=1.577,95%CI:1.011-2.460,P=0.045;HR=2.709,95%CI:1.708-4.297,P<0.001).Conclusion:The gastric cancer patients with low expression of ME1S1 have a shorter postoperative overall survival;MEIS1 is a promising biomarker for prognosis assessment of the patients after radical gastrectomy.
4.Functional principle and typical fault analysis of medical multi-functional electric bed circuit
Xingxi ZHU ; Siyue XU ; Wei FU ; Yanhua LUO ; Dandan WANG ; Changling WANG
China Medical Equipment 2024;21(5):202-206
In order to deeply learn the circuit principle and typical fault analysis methods of medical electric bed,motivate and improve the independent maintenance ability of medical engineers,the functions and structures of commonly used medical multi-function electric beds were introduced.Based on the control circuit boards of 3 brands of medical multifunctional electric bed used in Nanjing BenQ Hospital,the electrical schematic diagram was drawn,the working principle was analyzed,the common faults were analyzed,and the causes and solutions of the faults were found,so as to ensure the normal operation of various brands of electric beds in the hospital,effectively control the maintenance cost,and improve the maintenance efficiency and service level.
5.Exploration of the relationship between the storage time of leukodepleted red blood cell and transfusion adverse reactions
Liu HE ; Jian LIU ; Gang WU ; En WANG ; Fayan YI ; Xingshun TAN ; Shiyu ZHU ; Rui YU ; Guanghui LU ; Yan LIU ; Mei ZHAI ; Qing XIANG ; Ping LIU ; Yanhua LIAO ; Zhizhen FU ; Maolin LI ; Rong HUANG
Chinese Journal of Blood Transfusion 2023;36(10):889-891
【Objective】 To explore the relationship between the storage time of leukodepleted red blood cells and transfusion adverse reactions by analyzing the occurrence of transfusion adverse reactions of patients after leukodepleted red blood cells transfusion from four hospitals. 【Methods】 By using the electronic medical record management system, the collection and transfusion dates of leukodepleted red blood cells from four hospitals in Enshi Prefecture from 2018 to 2022, as well as the information on transfusion adverse reactions, were retrieved. 【Results】 From 2018 to 2022, a total of 697 61 bags of leukodepleted red blood cells were transfused in four hospitals, resulting in 166 cases of transfusion adverse reactions, among which 93 were allergic reactions, 63 were non hemolytic febrile reactions, and 10 were others, with a total incidence rate of transfusion adverse reactions at 0.24%. The average storage time of leukodepleted red blood cells with and without transfusion adverse reactions was (20.25±6.31) and (19.88±5.50) days, respectively. With a storage time of 7 days as the threshold, the incidence of transfusion adverse reactions was the lowest for a storage time of 15~21 days. The incidence of transfusion adverse reactions of leukodepleted red blood cells in two groups (with storage days ≤21 days and >21 days) was not statistically significant(P>0.05). 【Conclusion】 Allergic reactions were the main type of transfusion adverse reaction caused by leukodepleted red blood cells, and the incidence of transfusion adverse reactions decreased and then increased with the prolongation of the storage time of leukodepleted red blood cells. There was no significant difference in the incidence of transfusion adverse reactions with leukodepleted red blood cells stored for ≤ 21 days and >21 days.
6.Progress in application of placental and intraplacental circulation Doppler in obstetrics
Chanjuan ZENG ; Yanhua ZHAO ; Kuilin FEI ; Yimei FU ; Chenlin PEI ; Weishe ZHANG
Chinese Journal of Perinatal Medicine 2023;26(5):434-438
Placental and maternal-fetal circulation Doppler ultrasound are the main noninvasive means for maternal-fetal monitoring. However, Doppler studies on placental abnormalities are not well studied yet. Doppler monitoring of the maternal-fetal circulation, involving uterine arteries, umbilical arteries, and fetal vessels, is still used to screen diseases related to placental dysfunction (such as preeclampsia and fetal growth restriction) and to guide clinical management. This article reviews the advances in the clinical application of placental and maternal-fetal circulation Doppler in obstetrics to optimize the clinical management of disorders associated with abnormal placental structure and function.
7.ETCM v2.0: An update with comprehensive resource and rich annotations for traditional Chinese medicine.
Yanqiong ZHANG ; Xin LI ; Yulong SHI ; Tong CHEN ; Zhijian XU ; Ping WANG ; Meng YU ; Wenjia CHEN ; Bing LI ; Zhiwei JING ; Hong JIANG ; Lu FU ; Wenjing GAO ; Yanhua JIANG ; Xia DU ; Zipeng GONG ; Weiliang ZHU ; Hongjun YANG ; Haiyu XU
Acta Pharmaceutica Sinica B 2023;13(6):2559-2571
Existing traditional Chinese medicine (TCM)-related databases are still insufficient in data standardization, integrity and precision, and need to be updated urgently. Herein, an Encyclopedia of Traditional Chinese Medicine version 2.0 (ETCM v2.0, http://www.tcmip.cn/ETCM2/front/#/) was constructed as the latest curated database hosting 48,442 TCM formulas recorded by ancient Chinese medical books, 9872 Chinese patent drugs, 2079 Chinese medicinal materials and 38,298 ingredients. To facilitate the mechanistic research and new drug discovery, we improved the target identification method based on a two-dimensional ligand similarity search module, which provides the confirmed and/or potential targets of each ingredient, as well as their binding activities. Importantly, five TCM formulas/Chinese patent drugs/herbs/ingredients with the highest Jaccard similarity scores to the submitted drugs are offered in ETCM v2.0, which may be of significance to identify prescriptions/herbs/ingredients with similar clinical efficacy, to summarize the rules of prescription use, and to find alternative drugs for endangered Chinese medicinal materials. Moreover, ETCM v2.0 provides an enhanced JavaScript-based network visualization tool for creating, modifying and exploring multi-scale biological networks. ETCM v2.0 may be a major data warehouse for the quality marker identification of TCMs, the TCM-derived drug discovery and repurposing, and the pharmacological mechanism investigation of TCMs against various human diseases.
8.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.
9.Trends and risk factors of anaemia among the nutrition improvement program for rural compulsory education students aged 6-15 years, Hunan Province
HU Ji, FU Zhongxi, LI Kaiyu, WANG Fei, TAN Yaqing, CHEN Yanhua
Chinese Journal of School Health 2022;43(6):906-911
Objective:
To investigate the prevalence of anemia among students aged 6-15 years old participated in the Nutrition Improvement Program for Rural Compulsory Education Program in 2012-2021 in Hunan Province, and to explore associated factors.
Methods:
A cluster random sampling method was used. The survey was conducted among compulsory education students who came from counties in Hunan Province where nutrition improvement plan and key surveillance were carried out. Height and weight were measured, hemoglobin, dietary habits and health knowledge were collected.
Results:
Since the implementation of nutrition improvement plan in 2012, the anemia rate decreased from 12.8% to 9.3%, the average hemoglobin content decreased from 133.9 g/L to 130.0 g/L. The proportion of students eating meat every day increased from 20.4% to 47.3%. Students eating three or more servings of table tennis ball size of meal increased from 21.4% to 47.3%. The proportion of students eating more than three kinds of vegetables per day was 39.1% in 2016 and 32.6% in 2019, and less than 30% in other years. The proportion of students eating three or more servings of table tennis ball size of vegetables increased from 19.5% to 39.6%, and the proportion of students eating snack less than once a day increased from 13.1% to 76.9%. The proportion of students drinking beverages less than once a day increased from 36.5% to 90.7%. Girls, older than 12 years, not eating meat every day, and who eat less than 1 serving of table tennis ball size of meat, eat less than 3 servings of table tennis ball size of vegetables and fruit at one time, and who eat less than 3 kinds of vegetables every day, and those who grow slowly had higher risk of anemia. Potential factors of anemia in students varied by survey year.
Conclusion
The implementation of the compulsory education has improved the nutritional status of compulsory education students in rural areas of Hunan Province, but anemia still occurs. Potential factors associated with childhood anemia are changing. Child health literacy education should adapt to the changing social and economic enviornment, as well as lifestyles. Targeted and appropriate nutritional education and intervention are greatly needed.
10.Spatial-resolved metabolomics reveals tissue-specific metabolic reprogramming in diabetic nephropathy by using mass spectrometry imaging.
Zhonghua WANG ; Wenqing FU ; Meiling HUO ; Bingshu HE ; Yaqi LIU ; Lu TIAN ; Wanfang LI ; Zhi ZHOU ; Baili WANG ; Jianzhen XIA ; Yanhua CHEN ; Jinfeng WEI ; Zeper ABLIZ
Acta Pharmaceutica Sinica B 2021;11(11):3665-3677
Detailed knowledge on tissue-specific metabolic reprogramming in diabetic nephropathy (DN) is vital for more accurate understanding the molecular pathological signature and developing novel therapeutic strategies. In the present study, a spatial-resolved metabolomics approach based on air flow-assisted desorption electrospray ionization (AFADESI) and matrix-assisted laser desorption ionization (MALDI) integrated mass spectrometry imaging (MSI) was proposed to investigate tissue-specific metabolic alterations in the kidneys of high-fat diet-fed and streptozotocin (STZ)-treated DN rats and the therapeutic effect of astragaloside IV, a potential anti-diabetic drug, against DN. As a result, a wide range of functional metabolites including sugars, amino acids, nucleotides and their derivatives, fatty acids, phospholipids, sphingolipids, glycerides, carnitine and its derivatives, vitamins, peptides, and metal ions associated with DN were identified and their unique distribution patterns in the rat kidney were visualized with high chemical specificity and high spatial resolution. These region-specific metabolic disturbances were ameliorated by repeated oral administration of astragaloside IV (100 mg/kg) for 12 weeks. This study provided more comprehensive and detailed information about the tissue-specific metabolic reprogramming and molecular pathological signature in the kidney of diabetic rats. These findings highlighted the promising potential of AFADESI and MALDI integrated MSI based metabolomics approach for application in metabolic kidney diseases.


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