1.Ultrasound combined with whole-exome sequencing for the diagnosis of fetal congenital chloride diarrhea: a case report
Longfei SHI ; Xiangdang LONG ; Sui YAO ; Qiongli WEN ; Gang ZHONG ; Xuan CHEN ; Yongfang XI
Chinese Journal of Perinatal Medicine 2025;28(1):74-76
This paper reported a case of fetal congenital chloride diarrhea (CCD) indicated by prenatal ultrasound and confirmed by whole-exome sequencing. At 26 weeks and two days of gestation, a routine prenatal ultrasound revealed fetal bowel dilation and numerous floating echogenic particles in the amniotic fluid, suggesting the possibility of CCD. Multiple follow-up ultrasounds in late pregnancy showed persistent bowel dilation, polyhydramnios with numerous floating echogenic particles, and fetal development larger than the gestational age. Whole-exome sequencing and Sanger validation revealed two compound heterozygous mutations in the fetal SLC26A3 gene: c.2006C>A (p.S669*) inherited from the mother and c.1355T>A (p.L452Q) inherited from the father, leading to a diagnosis of CCD. Postnatally, the infant exhibited persistent watery diarrhea. Based on prenatal ultrasound and diagnostic results, the infant was immediately given intravenous and oral electrolyte supplementation after birth, preventing severe electrolyte imbalance. As of June 2024, the infant was five months old, with follow-up showing good growth and development.
2.Ultrasound combined with whole-exome sequencing for the diagnosis of fetal congenital chloride diarrhea: a case report
Longfei SHI ; Xiangdang LONG ; Sui YAO ; Qiongli WEN ; Gang ZHONG ; Xuan CHEN ; Yongfang XI
Chinese Journal of Perinatal Medicine 2025;28(1):74-76
This paper reported a case of fetal congenital chloride diarrhea (CCD) indicated by prenatal ultrasound and confirmed by whole-exome sequencing. At 26 weeks and two days of gestation, a routine prenatal ultrasound revealed fetal bowel dilation and numerous floating echogenic particles in the amniotic fluid, suggesting the possibility of CCD. Multiple follow-up ultrasounds in late pregnancy showed persistent bowel dilation, polyhydramnios with numerous floating echogenic particles, and fetal development larger than the gestational age. Whole-exome sequencing and Sanger validation revealed two compound heterozygous mutations in the fetal SLC26A3 gene: c.2006C>A (p.S669*) inherited from the mother and c.1355T>A (p.L452Q) inherited from the father, leading to a diagnosis of CCD. Postnatally, the infant exhibited persistent watery diarrhea. Based on prenatal ultrasound and diagnostic results, the infant was immediately given intravenous and oral electrolyte supplementation after birth, preventing severe electrolyte imbalance. As of June 2024, the infant was five months old, with follow-up showing good growth and development.
3.Current situation of water resource utilization and its improvement suggestion in a certain naval station
Xiao PENG ; Xiaochuan HOU ; Yina ZHU ; Zhaoyun PENG ; Yuan YAO ; Yongfang WANG ; Zheng XU ; Liang XIAO
Journal of Navy Medicine 2024;45(5):464-468
In light of the scarcity of freshwater resources and challenges in ensuring potable water supply at naval stations,the entire process of drinking water supply at a naval station was comprehensively investigated by field surveys and inquiries.The drinking water supply of the naval station was significantly affected by low and high water periods,and the water quality was poor.The water purification was insufficient.The freshwater collected through groundwater or rainwater had a poor taste,which resulted in a low level of satisfaction among officers and soldiers.In consideration of the meteorological characteristics and water resources utilization status at the island observation station,this study presents recommendations for enhancing the drinking water supply for officers and soldiers stationed there.Furthermore,this study discusses the feasibility of implementing air-to-water production technology to improve the quality of drinking water at the naval island stations,thereby safeguarding personnel health and maintaining combat effectiveness.
4.Expression and predictive value of serum core fucosylated low molecular weight kininogen and alpha-galactosylated antibodies in patients with hepatic fibrosis
Xiangling ZHANG ; Zhongshang DAI ; Xinqiang XIAO ; Zhihao ZENG ; Yao YANG ; Zhi GAO ; Yongfang JIANG ; Guozhong GONG ; Min ZHANG
Journal of Central South University(Medical Sciences) 2024;49(6):903-913
Objective:Hepatic fibrosis is a common pathological basis for many chronic liver diseases and can progress to cirrhosis,a leading cause of mortality in liver diseases.Early identification and reversal of hepatic fibrosis are key in the treatment of chronic liver disease.This study aims to compare the expression levels of serum core fucosylated low molecular weight kininogen(LMWK-Fc)and alpha-galactosylated(α-Gal)antibodies in patients with hepatic fibrosis at different stages,and to evaluate their diagnostic efficacy for hepatic fibrosis. Methods:A retrospective analysis was conducted on 275 patients with chronic liver disease who visited the Department of Infectious Diseases at the Second Xiangya Hospital of Central South University between June 2022 and March 2023.Among these,115 patients underwent liver biopsy.Based on the extent of collagen deposition and its impact on liver structure and microcirculation,patients were staged from 0 to 4:S0(no significant collagen deposition in liver tissues;liver structure and microcirculation are normal),S1(mild collagen deposition in liver tissues,with partial disruption of lobule structure,but microcirculation remains largely normal),S2(moderate collagen deposition in liver tissues,with partial disruption of lobule structure and microcirculation),S3(extensive collagen deposition in liver tissues,with substantial disruption of lobule structure and microcirculation),and S4(development of cirrhosis,with heavy collagen deposition,complete disruption of lobule structure,and severe impairment of microcirculation).Patients were grouped as no fibrosis(S0),fibrosis(S1-S2),and significant fibrosis(S3-S4).For the 160 patients without liver biopsy,they were categorized based on liver stiffness measurement(LSM)value:no fibrosis(F0:LSM<7.3 kPa),fibrosis(F1-F2:LSM 7.3-12.4 kPa),and significant fibrosis(F3-F4:LSM>12.4 kPa).Demographic data(age,gender)and laboratory indicators(alanine transaminase,aspartate transaminase,gamma-glutamyl transferase,alkaline phosphatase,alpha-fetoprotein,platelet count)were collected to calculate the fibrosis-4 index(FIB-4)and aspartate aminotransferase-to-platelet ratio index(APRI).Serum LMWK-Fc and α-Gal antibodies were measured and compared across the groups,and their correlation with fibrosis severity was analyzed.The receiver operating characteristic(ROC)curve was used to assess the predictive value of serum LMWK-Fc and α-Gal antibody levels for hepatic fibrosis. Results:Among the 160 patients without complete liver biopsy,serum α-Gal antibody and LMWK-Fc levels increased progressively from the no fibrosis group to the significant fibrosis group,with statistically significant differences(P<0.05).Among the 115 patients with liver biopsy,serum LMWK-Fc levels were significantly higher in the fibrosis group and the significant fibrosis groups compared with the no fibrosis group,and α-Gal antibody levels were significantly higher in the significant fibrosis group compared with the no fibrosis group and the fibrosis group(P<0.001,P=0.032,respectively).Univariate and multivariate linear regression analyses showed that hepatic fibrosis was correlated with gender and LMWK-Fc levels(both P<0.05),but not with age,α-Gal antibody levels,FIB-4,or APRI(all P>0.05). Conclusion:The expression levels of serum LMWK-Fc and α-Gal antibodies vary across different stages of hepatic fibrosis,suggesting a potential association with fibrosis progression.LMWK-Fc levels have a certain predictive value for the diagnosis of hepatic fibrosis.
5.Application of virtual reality technology in reducing the intraoperative pain in patients receiving hepatic arterial chemoembolization:a randomized controlled study
Youhua XUE ; Yongfang YAO ; Lan GAO ; Zhengli HUANG ; Ying YANG ; Boyuan WANG ; Xiaoyan WANG
Journal of Interventional Radiology 2024;33(10):1125-1130
Objective To explore the effect of virtual reality(VR)technology on relieving intraoperative pain in patients receiving transcatheter hepatic artery chemoembolization(TACE).Methods A total of 76 patients,who received TACE from June 2023 to January 2024,were enrolled in this study.Using random number table method,the patients were divided into control group(n=38)and study group(n=38).Intraoperative routine nursing was carried out for the patients of the control group,while on the basis of routine nursing additional VR technology was adopted to relieve the intraoperative pain for the patients of the study group.The degree of intraoperative pain,anxiety symptoms,incidence of intraoperative adverse reactions and patient satisfaction with nursing were compared between the two groups.Results The degree of intraoperative pain in the study group was lower than that in the control group,but the difference between the two groups was not statistically significant(P>0.05).The analgesic effect of VR was much obvious in patients aged≤55 years and in patients with vascular invasion of liver cancer(P<0.05).The anxiety score in the study group was lower than that in the control group,the patient satisfaction score in the study group was higher than that in the control group,and the differences between the two groups were statistically significant(both P<0.05).No statistically significant difference in the incidence of adverse reactions existed between the two groups(P>0.05).Conclusion Immersive VR technology can effectively reduce the degree of intraoperative pain in patients receiving TACE,especially in patients aged ≤55 years.Besides,VR technology can also reduce the anxiety degree of patients,and improve the degree of intraoperative patient satisfaction with nursing.
6.Research progress on the application of virtual reality technology in reducing procedural pain in adults
Yongfang YAO ; Xiaoyan WANG ; Yan GE ; Youhua XUE
Chinese Journal of Modern Nursing 2024;30(7):977-980
Procedural pain refers to the acute and transient pain caused by medical diagnosis, treatment and nursing for the purpose of medical health care. This paper reviews the application of virtual reality technology in adult procedural pain, including the related concepts and analgesic mechanisms of virtual reality technology and procedural pain, the application status of virtual reality technology in reducing adult procedural pain, and analyzes the shortcomings and prospects of virtual reality technology in clinical application, so as to provide guidance for medical nursing practice.
7.Discovery of thiosemicarbazone derivatives as effective New Delhi metallo-β-lactamase-1 (NDM-1) inhibitors against NDM-1 producing clinical isolates
Bing ZHAO ; Xinhui ZHANG ; Tingting YU ; Ying LIU ; Xiaoling ZHANG ; Yongfang YAO ; Xuejian FENG ; Hongmin LIU ; Dequan YU ; Liying MA ; Shangshang QIN
Acta Pharmaceutica Sinica B 2021;11(1):203-221
New Delhi metallo-β-lactamase-1 (NDM-1) is capable of hydrolyzing nearly all β-lactam antibiotics, posing an emerging threat to public health. There are currently less effective treatment options for treating NDM-1 positive “superbug”, and no promising NDM-1 inhibitors were used in clinical practice. In this study, structure–activity relationship based on thiosemicarbazone derivatives was systematically characterized and their potential activities combined with meropenem (MEM) were evaluated. Compounds 19bg and 19bh exhibited excellent activity against 10 NDM-positive isolate clinical isolates in reversing MEM resistance. Further studies demonstrated compounds 19bg and 19bh were uncompetitive NDM-1 inhibitors with Ki = 0.63 and 0.44 μmol/L, respectively. Molecular docking speculated that compounds 19bg and 19bh were most likely to bind in the allosteric pocket which would affect the catalytic effect of NDM-1 on the substrate meropenem. Toxicity evaluation experiment showed that no hemolysis activities even at concentrations of 1000 mg/mL against red blood cells. In vivo experimental results showed combination of MEM and compound 19bh was markedly effective in treating infections caused by NDM-1 positive strain and prolonging the survival time of sepsis mice. Our finding showed that compound 19bh might be a promising lead in developing new inhibitor to treat NDM-1 producing superbug.
8.Effects of drinking water-borne arsenic exposure on mammary gland development of female mice in early life
Yongfang LI ; Dianqi YAO ; Hao LUO ; Xing ZHANG ; Dongmeng MEI ; Guifan SUN ; Yuanyuan XU
Chinese Journal of Endemiology 2020;39(12):876-880
Objective:To investigate the effects of drinking water-borne arsenic exposure on mammary gland development of female mice in early life.Methods:Healthy and sexually mature C57BL/6J mice were paired according to the female to male ratio of 2∶1. After confirmation of pregnancy, female mice were randomly divided into control (drinking double distilled water), low- (0.5 mg/L) and high- (5.0 mg/L) dose arsenic exposure groups, 10 mice in each group. The exposure time of arsenic in drinking water ranged from day 0 of pregnancy to day 28 after birth. At the end of arsenic exposure, female offspring (10 mice in each group) were sacrificed and mammary glands were dissected for whole tissue staining to evaluate the development of mammary glands and quantitative analysis of mammary gland development indexes. The expression of proliferating cell associated antigen Ki67 was detected by immunohistochemistry.Results:There were no significant differences in body weight and organ coefficients of liver, kidney and mammary glands between female offspring in low- and high-dose arsenic exposure groups and control group ( F=1.018, 1.033, 1.764, 0.199, P > 0.05). Compared with control group, low- and high- dose arsenic exposure groups showed more terminal end buds (TEB) and ductal branches as well as stronger longitudinal growth ability in mammary gland morphological analysis. Quantitative analysis results showed that the numbers of TEB in the low- and high-dose arsenic exposure groups (11.83 ± 4.40, 11.00 ± 3.74) were significantly higher than that in the control group (4.00 ± 1.83, P < 0.05). The ductal lengths in the low- and high-dose arsenic exposure groups [(6.43 ± 1.08), (6.08 ± 1.74) mm] were also significantly longer than that in the control group [(3.71 ± 0.61) mm, P < 0.05]. The distance of leading edge of ducts to the midpoint of lymph nodes in the low- and high-dose arsenic exposure groups [(0.58 ± 1.12), (- 0.02 ± 1.57) mm] was significantly shorter than that in the control group [(- 2.67 ± 0.87) mm, P < 0.05]. The mean maximum area of TEB in the low-dose arsenic exposure group [(0.04 ± 0.01) mm 2] was significantly larger than that in the control group [(0.02 ± 0.01) mm 2, P < 0.05]. Immunohistochemistry staining indicated strong staining of Ki67 within TEB in the low- and high-dose arsenic exposure groups. Conclusion:Early life inorganic arsenic exposure promotes the development of TEB, ductal extension and cell proliferation within TEB in female mice, indicating that early life arsenic exposure alters mammary gland development.
9.Psychological experience of nurses in rescue of traffic accident: a qualitative study
Guanghong ZHOU ; Siwei LIU ; Yongfang YAO ; Jing ZHANG
Chinese Journal of Modern Nursing 2018;24(13):1567-1570
Objective To explore the cognition, emotion and will experience of nurses in rescue of major traffic accidents. Methods The study was carried out with the phenomenological approach within qualitative research. From January 2014 to June 2017, a total of 10 nurses of China-Japan Union Hospital of Jilin University taking part in traffic accident rescue were selected as interviewees. Colaizzi method was used to sort out and analyze data. Results According to data analysis, 7 themes were induced including management capacity, operation skills of first aid, shock and heartache, sense of responsibility and mission, fear, being conscious of negative emotions as well as finding ways to control negative emotions. Conclusions The controlling ways of psychological pressure problem for first aid nurses are put forward by analyzing psychological experience of nurses in rescue of traffic accident so as to provide a basis for managers to formulate training system.
10.Alpha-Ketoglutarate: Physiological Functions and Applications.
Nan WU ; Mingyao YANG ; Uma GAUR ; Huailiang XU ; Yongfang YAO ; Diyan LI
Biomolecules & Therapeutics 2016;24(1):1-8
Alpha-ketoglutarate (AKG) is a key molecule in the Krebs cycle determining the overall rate of the citric acid cycle of the organism. It is a nitrogen scavenger and a source of glutamate and glutamine that stimulates protein synthesis and inhibits protein degradation in muscles. AKG as a precursor of glutamate and glutamine is a central metabolic fuel for cells of the gastrointestinal tract as well. AKG can decrease protein catabolism and increase protein synthesis to enhance bone tissue formation in the skeletal muscles and can be used in clinical applications. In addition to these health benefits, a recent study has shown that AKG can extend the lifespan of adult Caenorhabditis elegans by inhibiting ATP synthase and TOR. AKG not only extends lifespan, but also delays age-related disease. In this review, we will summarize the advances in AKG research field, in the content of its physiological functions and applications.
Adenosine Triphosphate
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Adult
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Bone and Bones
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Caenorhabditis elegans
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Citric Acid Cycle
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Gastrointestinal Tract
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Glutamic Acid
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Glutamine
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Humans
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Insurance Benefits
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Metabolism
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Muscle, Skeletal
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Muscles
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Nitrogen
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Proteolysis

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