1.Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China
Chuan ZHANG ; Ling HUI ; Bing-Bo ZHOU ; Lei ZHENG ; Yu-Pei WANG ; Sheng-Ju HAO ; Zhen-Qiang DA ; Ying MA ; Jin-Xian GUO ; Zong-Fu CAO ; Xu MA
Chinese Journal of Contemporary Pediatrics 2024;26(1):67-71
Objective To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder(IMD)among neonates in Gansu Province of China.Methods A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021.A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.Results A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates,and the overall prevalence rate of IMD was 0.63‰(1/1 593),among which phenylketonuria showed the highest prevalence rate of 0.32‰(1/3 083),followed by methylmalonic acidemia(0.11‰,1/8 959)and tetrahydrobiopterin deficiency(0.06‰,1/15 927).In this study,166 variants were identified in the 28 pathogenic genes,with 13 novel variants found in 9 genes.According to American College of Medical Genetics and Genomics guidelines,5 novel variants were classified as pathogenic variants,7 were classified as likely pathogenic variants,and 1 was classified as the variant of uncertain significance.Conclusions This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.
2.Clinical management of skin necrosis after penis lengthening surgery:Report of 12 cases
Rui CHEN ; Xiao-Tao LI ; Biao DONG ; Chuan-Fu MA ; Xiao-Dong WANG ; Jia-Qin LIU ; Ming SHEN ; Zhuan-Xin JIANG
National Journal of Andrology 2023;29(5):426-429
Objective:To analyze the causes of skin necrosis after penis lengthening surgery and corresponding treatment meas-ures,and observe the clinical effect of free skin graft repair in the treatment of penile skin defects.Methods:We retrospectively an-alyzed the clinical data on 12 cases of extensive penile skin necrosis and defect after penis lengthening surgery performed in our depart-ment from January 2017 to January 2022.The patients underwent free skin graft repair with medium-or full-thickness skin grafts from the thigh after wound preparation.Results:The skin grafts survived well in all the 12 patients and the incisions healed in the first stage without any complications.At 6 months after surgery,skin sensation was mostly recovered in the area of penis skin grafting,no obvious skin ulceration or edema was observed,and the appearance of the penis was satisfactory.The IIEF-5 scores,Erectile Hardness Scale(EHS)scores,and the results of penile hardness tests of the patients all indicated normal erectile function.Conclusion:Free skin graft repair with autologous medium-or full-thickness skin grafts is a safe and effective surgical option for extensive penile skin necrosis after penis lengthening surgery.
3.Association of ambient fine particulate air pollution with hospitalization costs and stays for depression in China: a multicity analysis.
Zhou Yang XU ; Zi Chuan LI ; Ya Ting MA ; Wan Zhou WANG ; Xin Biao GUO ; Fu Rong DENG ; Shao Wei WU
Chinese Journal of Preventive Medicine 2022;56(5):561-566
Objective: To explore the effect of fine particulate matter (PM2.5) pollution on depression hospitalization cost and length of stay in 57 cities of China. Methods: A total of 84 207 patients with depression in 57 cities of China from January 2013 to December 2017 were selected as the subjects. The demographic characteristics and hospitalization status of the patients were obtained from the database of basic medical insurance for urban workers and urban residents in China. The environmental exposure data of the same period were obtained from the national air quality real-time release platform of China Environmental Monitoring Station. A generalized additive model based on quasi-Poisson distribution was used to analyze PM2.5 exposure effect in each city, and the nonlinear mixing of moving average temperature, relative humidity and date was controlled by natural smooth spline function. Results: Among the included cities, southern cities accounted for 50.88% (29), and the number of female inpatients, hospitalization costs and hospitalization days accounted for 62.65%, 63.50% and 60.85% (42 735 cases, 567.78 million yuan and 1.14 million days, respectively). The proportion of hospitalized cases, hospitalization cost and length of stay in the age group of 40 to 64 years old were 59.15% (40 346 cases), 53.92% (482.15 million yuan) and 52.07% (0.98 million days), respectively. PM2.5 level was positively correlated with the number of hospitalized cases with depression, hospitalization cost and length of stay. When the 3-day moving average of PM2.5 exposure level increased by 10 μg/m3, the number of hospitalization cases increased by 0.64%. The attributed percentage (95%CI) of hospitalized cases, hospitalization costs and length of stay were 3.35% (0.57%-6.04%), 3.04% (0.52%-5.48%) and 3.07% (0.49%-5.56%), respectively. Subgroup analysis showed that the attributed percentage of hospitalization cases, hospitalization cost and length of stay to PM2.5 exposure ranged from 3.97% to 4.68%, 4.04% to 4.33% and 4.13% to 4.30% in northern China, male and cold season, respectively. Conclusion: PM2.5 exposure is associated with the increase of hospitalization cost and length of stay among Chinese urban population with depression.
Adult
;
Air Pollutants/analysis*
;
Air Pollution/analysis*
;
China/epidemiology*
;
Depression
;
Dust/analysis*
;
Female
;
Hospitalization
;
Humans
;
Male
;
Middle Aged
;
Particulate Matter/analysis*
4.Efficacy of Different Doses of Daunorubicin Induced Chemotherapy in Patients with Newly Diagnosed Primary Acute Myeloid Leukemia Under 65 Years Old.
Shuai-Ge GONG ; Fu-Jue WANG ; Shuo-Ting WANG ; Qin ZHENG ; Xiao SHUAI ; Hong-Bing MA ; Li ZHANG ; Xin-Chuan CHEN ; Yu WU ; Yong-Qian JIA
Journal of Experimental Hematology 2021;29(4):1071-1079
OBJECTIVE:
To compare the efficacy and safety of different doses of daunorubicin combined with a standard dose of cytarabine as induction chemotherapy in newly diagnosed primary acute myeloid leukemia (AML) patients.
METHODS:
The clinical data and outcome were retrospectively analyzed in 86 newly diagnosed primary AML patients who were under 65 years old and treated with daunorubicin combined with cytarabine (DA regimen) at West China Hospital of Sichuan University from January 2017 to June 2019. Patients were divided into 2 groups based on the dose of daunorubicin they received, 35 cases in the escalated-dose group [75 mg/(m
RESULTS:
Median follow-up time of all the patients was 15 months. The CR rate and MRD
CONCLUSION
The escalated dose of daunorubicin can induce higher complete remission rate, deeper remission and longer duration of remission without increasing adverse events in newly diagnosed primary AML patients.
Aged
;
Antineoplastic Combined Chemotherapy Protocols
;
Cytarabine/therapeutic use*
;
Daunorubicin
;
Humans
;
Induction Chemotherapy
;
Leukemia, Myeloid, Acute/drug therapy*
;
Remission Induction
;
Retrospective Studies
5.Effects of ecological factors on shape and ginsenoside of Panax ginseng.
Wen-Qi MA ; Hong-Yang WANG ; Wen-Jin ZHANG ; Sheng WANG ; Xiu-Fu WAN ; Chuan-Zhi KANG ; Lan-Ping GUO
China Journal of Chinese Materia Medica 2021;46(8):1920-1926
The ecological environment is closely related to the growth and quality of authentic medicinal materials. Ginseng is very strict with its natural environment and grows mostly in the damp valleys of forests, and the appearance and chemical composition of ginseng under different growth environments are very different. This article reviews the effects of different ecological factors(including light, temperature, altitude, moisture, soil factors, etc.)on the appearance and chemical composition(mainly ginsenosides) of ginseng. Through systematic review, it is found that soil physical factors are the most important ecological factors that affect the appea-rance of ginseng, and soil bulk density plays a key role; temperature affects ginsenosides in ginseng medicinal materials The dominant ecological factors for the accumulation of chemical ingredents; strong light, high altitude, high soil moisture, low soil nutrient and strong acid soil can influence the accumulation of secondary metabolites in ginseng. Environmental stress can also stimulate the formation and accumulation of secondary metabolites in medicinal plants. Appropriate low temperature stress, high or low water stress, acid or alkali stress can also promote the accumulation of ginsenosides. This article systematically reviews the ecological factors that affect the appearance and chemical composition of ginseng, and clarifies the dominant ecological factors and limiting factors for the formation of ginseng's appearance and quality, as well as beneficial environmental stress factors, in order to provide a theoretical basis for ginseng ecological planting and ginseng quality improvement.
Forests
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Ginsenosides
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Panax
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Plants, Medicinal
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Soil
6.Clinical practice guideline for diagnosis and treatment of hyperplasia of the mammary glands: Chinese Society of Breast Surgery (CSBrS) practice guideline 2021.
Wei MA ; Zi-Ning JIN ; Xu WANG ; Fang-Meng FU ; Wen-Hui GUO ; Ying-Ying XU ; Bo CHEN ; Feng JIN ; Chuan WANG ; Fan YAO
Chinese Medical Journal 2021;134(16):1891-1893
7.Exploratory screening of potential pan-cancer biomarkers based on The Cancer Genome Atlas database.
Chuan ZHOU ; Xue MA ; Yun Kun XING ; Lu Di LI ; Jie CHEN ; Bi Yun YAO ; Juan Ling FU ; Peng ZHAO
Journal of Peking University(Health Sciences) 2021;53(3):602-607
OBJECTIVE:
To screen potential pan-cancer biomarkers based on The Cancer Genome Atlas (TCGA) database, and to provide help for the diagnosis and prognosis assessment of a variety of cancers.
METHODS:
"GDC Data Transfer Tool" and "GDCRNATools" packages were used to obtain TCGA database. After data sorting, a total of 13 cancers were selected for further analysis. False disco-very rate (FDR) < 0.05 and fold change (FC) >1.5 were used as the differential expression criteria to screen genes and miRNAs that were up- or down-regulated in all the 13 cancers. In the receiver operating characteristic curve (ROC curve), the area under the curve (AUC), the best cut-off value and the corresponding sensitivity and specificity were used to reflect diagnostic significance. The Kaplan-Meier method was used to calculate the survival probability and then the log-rank test was performed. Hazard ratio (HR) was calculated to reflect prognostic evaluation significance. DAVID tool were used to perform GO (Gene Ontology) and KEGG (Kyoto Encyclopedia of Genes and Genomes) enrichment analysis for differentially expressed genes. STRING and TargetScan tools were used to analyze the regulatory network of differentially expressed genes and miRNAs.
RESULTS:
A total of 48 genes and 2 miRNAs were differentially expressed in all the 13 cancers. Among them, 25 genes were up-regulated, 23 genes and 2 miRNAs were down-regulated. Most differentially expressed genes and miRNAs had good ability to distinguish between the cases and controls, with AUC, sensitivity and specificity up to 0.8-0.9. Survival analysis results show that differentially expressed genes and miRNAs were significantly associated with patient survival in a variety of cancers. Most up-regulated genes were risk factors for patient survival (HR>1), while most down-regulated genes were protective factors for patient survival (0 < HR < 1). The enrichment analysis of GO and KEGG showed that the differentially expressed genes were mostly enriched in biological events related to cell proliferation. In the regulatory network analysis, a total of 13 differentially expressed genes and 2 differentially expressed miRNAs had regulatory and interaction relationships.
CONCLUSION
The 48 genes and 2 miRNAs that were differentially expressed in 13 cancers may serve as potential pan-cancer biomarkers, providing help for the diagnosis and prognosis evaluation of a variety of cancers, and providing clues for the development of broad-spectrum tumor therapeutic targets.
Biomarkers, Tumor/genetics*
;
Early Detection of Cancer
;
Gene Expression Profiling
;
Gene Expression Regulation, Neoplastic
;
Humans
;
MicroRNAs/genetics*
;
Neoplasms/genetics*
;
Prognosis
8.Cultivation strategy on cluster brand of ecological agriculture of Dao-di herbs.
Chuan-Zhi KANG ; Sheng WANG ; Lu-Qi HUANG ; Ya-Li HE ; Wen-Jin ZHANG ; Wen-Qi MA ; Xiu-Fu WAN ; Rui-Shan WANG ; Tao ZHOU ; Lan-Ping GUO
China Journal of Chinese Materia Medica 2020;45(9):1996-2001
The cluster brand is the embodiment of the core competitiveness of an industry. Developing and cultivating cluster brand of ecological agriculture of Dao-di herbs not only helps to optimize the value chain of the Chinese medicinal materials(CMMs) industry cluster, realize the value-added of the CMMs industry cluster, but also enhance the visibility and influence of the industrial cluster, enhance the core competitiveness of the industrial cluster. This has important practical significance for promoting the "orderly" "safe" and "effective" development of the Dao-di herbs. Based on the industry development status of CMMs, this article introduces several concepts related to cluster brands and their relationships, and focuses on the cultivation models and strategies of cluster brand in the CMMs industry. Based on the current status of the development of the CMMs industry, this article introduces several concepts related to cluster brands and their interrelationships. It discusses the cultivation models and strategies of cluster brands in the CMMs industry, industry associations, Chinese medicine companies and individual growers as the support, insists on the ecological cultivation of authentic medicinal materials and the cultivation of cluster brands. Finally, it points out the direction for the high-quality development of the ecological agriculture of CMMs.
Agriculture
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Drugs, Chinese Herbal
;
Industrial Development
;
Medicine, Chinese Traditional
;
Plants, Medicinal
9. Quantitative and Fingerprint of Ilex pubescens Slices
Hong-xing MA ; Long-fei LIN ; Yu-ling LIU ; Sai FU ; Jin-xin SHAO ; Ji-zhong ZHU ; Chuan-gui LIU ; Hui LI ; Wen-cong LIU
Chinese Journal of Experimental Traditional Medical Formulae 2019;25(13):140-150
Objective:To establish HPLC-UV fingerprints of Ilex pubescens pieces,and simultaneously determine two components in 46 batches of I. pubescens in pieces of I. pubescens saponin A1 and B1,in order to provide a reference for the quality standard of I. pubescens slices. Method:Methanol was used to extract the I. pubescens saponin samples,and the extracts were measured by HPLC-UV with the absorption wavelength at 210 nm. Kromasil C18 column (4.6 mm×250 mm,5 μm) was used for determining the extracts at a flow rate of 1.0 mL·min-1. The mobile phase condition was acetonitrile-0.1% phosphoric acid aqueous solution with gradient mode. The chromatographic fingerprint similarity evaluation system of traditional Chinese medicine (2012 edition) was used to analyze I. pubescens fingerprints. SPSS 20.0 software was used to cluster the peak area of common peaks. Principal component analysis was performed to reduce the dimension of common peaks. Result:There were great differences between the root and stem parts in I. pubescens fingerprints. The fingerprints of roots and stems of I. pubescens were established respectively,cluster results assorted the roots of I. pubescens into three categories andthe branches of I. pubescens into two categories. The integrity and difference of I. pubescens decoction pieces from different parts and places of origin were compared,and the principal component analysis was performed to screen out the common components that played a decisive role in fingerprint of I. pubescens pieces. And the common peaks were determined. The content of saponin A1 and saponin B1 in Radix I. pubescens were determined. Conclusion:The established I. pubescens fingerprints and content determination methods are simple and suitable. Cluster analysis and principal component analysis are used to screen out the key components of quality control of I. pubescens. The results can provide references for quality control of I. pubescens.
10.Effect of acupuncture and moxibustion on brain functional connectivity network in patients with refractory facial paralysis.
Bin MA ; Jun YANG ; Ai-Hong YUAN ; Chuan-Fu LI ; Ting GAO ; Shu-Ting SONG
Chinese Acupuncture & Moxibustion 2019;39(12):1321-1326
OBJECTIVE:
To observe the effects of acupuncture on resting-state functional connectivity (rs-FC) in patients with refractory peripheral facial paralysis, and to preliminarily explore the central mechanism of acupuncture for this disease.
METHODS:
Twenty patients with refractory peripheral facial paralysis were selected as subject and treated with acupuncture at Qianzheng (EX-HN 16), Fengchi (GB 20), Cuanzhu (BL 2), Dicang (ST 4), Jiache (ST 6), Shuigou (GV 26), Chengjiang (CV 24), Yifeng (TE 17), Touwei (ST 8), Sibai (ST 2), Yingxiang (LI 20) and Hegu (LI 4), once every other day, three times a week, 15 times as a course of treatment. The 1-course treatment was given. The score of Sunnybrook (Toronto) facial grading system was used to evaluate the clinical efficacy before and after the treatment. In addition, 20 healthy volunteers were selected as control. For patients, the resting-state functional magnetic resonance imaging (rs-fMRI) scans were performed before and after treatment, for healthy volunteers, the scans were performed when they were recruited. The brain magnetic resonance images were analyzed with left primary motor area (LMⅠ) and right primary motor area (RMⅠ) as regions of interest. The differences of rs-FC between patients with refractory peripheral facial paralysis before and after treatment and healthy volunteers were compared.
RESULTS:
Compared before treatment, the Sunnybrook score was increased after the treatment (<0.05). Compared with healthy volunteers, the functional connection between bilateral primary motor areas (MⅠ) and multiple brain areas were enhanced in patients before treatment, and most of brain areas were located in the anterior motor area (middle frontal gyrus, superior frontal gyrus), posterior central gyrus, anterior cuneiform lobe, middle temporal gyrus, inferior temporal gyrus and cerebellum lobe. Compared before treatment, the left inferior frontal gyrus was the strong functional connection area between LMⅠ and whole brain after acupuncture treatment, and there was no significant difference between RMⅠ and resting-state whole brain. Compared with healthy volunteers, the functional connections between bilateral MⅠ and multiple brain regions were enhanced after acupuncture, and most of the main brain regions were consistent with those before treatment.
CONCLUSION
(1) Acupuncture could effectively improve the clinical symptoms of refractory peripheral facial paralysis. (2) The brain function of patients with refractory peripheral facial paralysis has been changed before acupuncture, which may be caused by the reactive compensation of the brain. (3) Acupuncture could enhance the functional connection between LMⅠ and left inferior frontal gyrus to promote the compensatory response, which may be one of the central mechanisms of acupuncture for refractory peripheral facial paralysis.
Acupuncture Points
;
Acupuncture Therapy
;
Brain
;
Facial Paralysis
;
therapy
;
Humans
;
Magnetic Resonance Imaging
;
Moxibustion

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