1.A multi-center epidemiological study on pneumococcal meningitis in children from 2019 to 2020
Cai-Yun WANG ; Hong-Mei XU ; Gang LIU ; Jing LIU ; Hui YU ; Bi-Quan CHEN ; Guo ZHENG ; Min SHU ; Li-Jun DU ; Zhi-Wei XU ; Li-Su HUANG ; Hai-Bo LI ; Dong WANG ; Song-Ting BAI ; Qing-Wen SHAN ; Chun-Hui ZHU ; Jian-Mei TIAN ; Jian-Hua HAO ; Ai-Wei LIN ; Dao-Jiong LIN ; Jin-Zhun WU ; Xin-Hua ZHANG ; Qing CAO ; Zhong-Bin TAO ; Yuan CHEN ; Guo-Long ZHU ; Ping XUE ; Zheng-Zhen TANG ; Xue-Wen SU ; Zheng-Hai QU ; Shi-Yong ZHAO ; Lin PANG ; Hui-Ling DENG ; Sai-Nan SHU ; Ying-Hu CHEN
Chinese Journal of Contemporary Pediatrics 2024;26(2):131-138
Objective To investigate the clinical characteristics and prognosis of pneumococcal meningitis(PM),and drug sensitivity of Streptococcus pneumoniae(SP)isolates in Chinese children.Methods A retrospective analysis was conducted on clinical information,laboratory data,and microbiological data of 160 hospitalized children under 15 years old with PM from January 2019 to December 2020 in 33 tertiary hospitals across the country.Results Among the 160 children with PM,there were 103 males and 57 females.The age ranged from 15 days to 15 years,with 109 cases(68.1% )aged 3 months to under 3 years.SP strains were isolated from 95 cases(59.4% )in cerebrospinal fluid cultures and from 57 cases(35.6% )in blood cultures.The positive rates of SP detection by cerebrospinal fluid metagenomic next-generation sequencing and cerebrospinal fluid SP antigen testing were 40% (35/87)and 27% (21/78),respectively.Fifty-five cases(34.4% )had one or more risk factors for purulent meningitis,113 cases(70.6% )had one or more extra-cranial infectious foci,and 18 cases(11.3% )had underlying diseases.The most common clinical symptoms were fever(147 cases,91.9% ),followed by lethargy(98 cases,61.3% )and vomiting(61 cases,38.1% ).Sixty-nine cases(43.1% )experienced intracranial complications during hospitalization,with subdural effusion and/or empyema being the most common complication[43 cases(26.9% )],followed by hydrocephalus in 24 cases(15.0% ),brain abscess in 23 cases(14.4% ),and cerebral hemorrhage in 8 cases(5.0% ).Subdural effusion and/or empyema and hydrocephalus mainly occurred in children under 1 year old,with rates of 91% (39/43)and 83% (20/24),respectively.SP strains exhibited complete sensitivity to vancomycin(100% ,75/75),linezolid(100% ,56/56),and meropenem(100% ,6/6).High sensitivity rates were also observed for levofloxacin(81% ,22/27),moxifloxacin(82% ,14/17),rifampicin(96% ,25/26),and chloramphenicol(91% ,21/23).However,low sensitivity rates were found for penicillin(16% ,11/68)and clindamycin(6% ,1/17),and SP strains were completely resistant to erythromycin(100% ,31/31).The rates of discharge with cure and improvement were 22.5% (36/160)and 66.2% (106/160),respectively,while 18 cases(11.3% )had adverse outcomes.Conclusions Pediatric PM is more common in children aged 3 months to under 3 years.Intracranial complications are more frequently observed in children under 1 year old.Fever is the most common clinical manifestation of PM,and subdural effusion/emphysema and hydrocephalus are the most frequent complications.Non-culture detection methods for cerebrospinal fluid can improve pathogen detection rates.Adverse outcomes can be noted in more than 10% of PM cases.SP strains are high sensitivity to vancomycin,linezolid,meropenem,levofloxacin,moxifloxacin,rifampicin,and chloramphenicol.[Chinese Journal of Contemporary Pediatrics,2024,26(2):131-138]
2.The Role of α7nAChR in Alzheimer’s Disease
Dao-Bo DING ; Wen-Jun MU ; Xin LI ; Huan CHEN ; Hong-Wei HOU ; Qing-Yuan HU
Progress in Biochemistry and Biophysics 2024;51(11):2897-2904
As the global population continues to age, the incidence of Alzheimer’s disease (AD), one of the most common neurodegenerative diseases, continues to rise significantly. As the disease progresses, the patient’s daily living abilities gradually decline, potentially leading to a complete loss of self-care abilities. According to estimates by the Alzheimer’s Association and the World Health Organization, AD accounts for 60%-70% of all other dementia cases, affecting over 55 million people worldwide. The case number is estimated to double by 2050. Despite extensive research, the precise etiology and pathogenesis of AD remain elusive. Researchers have a profound understanding of the disease’s pathological hallmarks, which include amyloid plaques and neurofibrillary tangles resulting from the abnormal phosphorylation of Tau protein. However, the exact causes and mechanisms of the disease are still not fully understood, leaving a vital gap in our knowledge and understanding of this debilitating disease. A crucial player that has recently emerged in the field of AD research is the α7 nicotinic acetylcholine receptor (α7nAChR). α7nAChR is composed of five identical α7 subunits that form a homopentamer. This receptor is a significant subtype of acetylcholine receptor in the central nervous system and is widely distributed in various regions of the brain. It is particularly prevalent in the hippocampus and cortical areas, which are regions associated with learning and memory. α7nAChR plays a pivotal role in several neurological processes, including neurotransmitter release, neuronal plasticity, cell signal transduction, and inflammatory response, suggesting its potential involvement in numerous neurodegenerative diseases, including AD. In recent years, the role of α7nAChR in AD has been the focus of extensive research. Emerging evidence suggests that α7nAChR is involved in several critical steps in the disease progression of AD. These include involvement in the metabolism of amyloid β-protein (Aβ), the phosphorylation of Tau protein, neuroinflammatory response, and oxidative stress. Each of these processes contributes to the development and progression of AD, and the involvement of α7nAChR in these processes suggests that it may play a crucial role in the disease’s pathogenesis. The potential significance of α7nAChR in AD is further reinforced by the observation that alterations in its function or expression can have significant effects on cognitive abilities. These findings suggest that α7nAChR could be a promising target for therapeutic intervention in AD. At present, the results of drug clinical studies targeting α7nAChR show that these compounds have improvement and therapeutic effects in AD patients, but they have not reached the degree of being widely used in clinical practice, and their drug development still faces many challenges. Therefore, more research is needed to fully understand its role and to develop effective treatments based on this understanding. This review aims to summarize the current understanding of the association between α7nAChR and AD pathogenesis. We provide an overview of the latest research developments and insights, and highlight potential avenues for future research. As we deepen our understanding of the role of α7nAChR in AD, it is hoped that this will pave the way for the development of novel therapeutic strategies for this devastating disease. By targeting α7nAChR, we may be able to develop more effective treatments for AD, ultimately improving the quality of life for patients and their families.
3.Preliminary exploration of the pharmacological effects and mechanisms of icaritin in regulating macrophage polarization for the treatment of intrahepatic cholangiocarcinoma
Jing-wen WANG ; Zhen LI ; Xiu-qin HUANG ; Zi-jing XU ; Jia-hao GENG ; Yan-yu XU ; Tian-yi LIANG ; Xiao-yan ZHAN ; Li-ping KANG ; Jia-bo WANG ; Xin-hua SONG
Acta Pharmaceutica Sinica 2024;59(8):2227-2236
The incidence of intrahepatic cholangiocarcinoma (ICC) continues to rise, and there are no effective drugs to treat it. The immune microenvironment plays an important role in the development of ICC and is currently a research hotspot. Icaritin (ICA) is an innovative traditional Chinese medicine for the treatment of advanced hepatocellular carcinoma. It is considered to have potential immunoregulatory and anti-tumor effects, which is potentially consistent with the understanding of "Fuzheng" in the treatment of tumor in traditional Chinese medicine. However, whether ICA can be used to treat ICC has not been reported. Therefore, in this study, sgp19/kRas, an
4.Medicinal plant resources in Inner Mongolia autonomous region of China and Mongolia: a comparative study.
Xin-Xin WEI ; Ze-Yuan ZHAO ; Ting-Ting SHI ; Chen de Ayusi DE ; Shu-Ying SUN ; Xiao-Bo ZHANG ; Min-Hui LI
China Journal of Chinese Materia Medica 2023;48(15):4078-4086
Inner Mongolia autonomous region of China and Mongolia are the primary regions where Chinese and Mongolian medicine and its medicinal plant resources are distributed. In this study, 133 families, 586 genera, and 1 497 species of medicinal plants in Inner Mongolia as well as 62 families, 261 genera, and 467 species of medicinal plants in Mongolia were collected through field investigation, specimen collection and identification, and literature research. And the species, geographic distribution, and influencing factors of the above medicinal plants were analyzed. The results revealed that there were more plant species utilized for medicinal reasons in Inner Mongolia than in Mongolia. Hotspots emerged in Hulunbuir, Chifeng, and Tongliao of Inner Mongolia, while there were several hotspots in Eastern province, Sukhbaatar province, Gobi Altai province, Bayankhongor province, Middle Gobi province, Kobdo province, South Gobi province, and Central province of Mongolia. The interplay of elevation and climate made a non-significant overall contribution to the diversity of plant types in Inner Mongolia and Mongolia. The contribution of each factor increased significantly when the vegetation types of Inner Mongolia and Mongolia were broadly divided into forest, grassland and desert. Thus, the distribution of medicinal plant resources and vegetation cover were jointly influenced by a variety of natural factors such as topography, climate and interactions between species, and these factors contributed to and constrained each other. This study provided reference for sustainable development and rational exploitation of medicinal plant resources in future.
Humans
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Plants, Medicinal
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Mongolia
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Climate
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Medicine, Mongolian Traditional
;
China
5.Functional characterization and enzymatic properties of flavonoid glycosyltransferase gene CtUGT49 in Carthamus tinctorius.
Xin-Bo CAI ; Nan LIU ; Jia LI ; Rong LIU ; Yun-Feng LUO ; Yi-Feng ZHANG ; Jia-Dian WANG ; Xiao-Yi WU ; Lu-Qi HUANG
China Journal of Chinese Materia Medica 2023;48(24):6624-6634
Carthami Flos, as a traditional blood-activating and stasis-resolving drug, possesses anti-tumor, anti-inflammatory, and immunomodulatory pharmacological activities. Flavonoid glycosides are the main bioactive components in Carthamus tinctorius. Glycosyltransferase deserves to be studied in depth as a downstream modification enzyme in the biosynthesis of active glycoside compounds. This study reported a flavonoid glycosyltransferase CtUGT49 from C. tinctorius based on the transcriptome data, followed by bioinformatic analysis and the investigation of enzymatic properties. The open reading frame(ORF) of the gene was 1 416 bp, encoding 471 amino acid residues with the molecular weight of about 52 kDa. Phylogenetic analysis showed that CtUGT49 belonged to the UGT73 family. According to in vitro enzymatic results, CtUGT49 could catalyze naringenin chalcone to the prunin and choerospondin, and catalyze phloretin to phlorizin and trilobatin, exhibiting good substrate versatility. After the recombinant protein CtUGT49 was obtained by hetero-logous expression and purification, the enzymatic properties of CtUGT49 catalyzing the formation of prunin from naringenin chalcone were investigated. The results showed that the optimal pH value for CtUGT49 catalysis was 7.0, the optimal temperature was 37 ℃, and the highest substrate conversion rate was achieved after 8 h of reaction. The results of enzymatic kinetic parameters showed that the K_m value was 209.90 μmol·L~(-1) and k_(cat) was 48.36 s~(-1) calculated with the method of Michaelis-Menten plot. The discovery of the novel glycosyltransferase CtUGT49 is important for enriching the library of glycosylation tool enzymes and provides a basis for analyzing the glycosylation process of flavonoid glycosides in C. tinctorius.
Carthamus tinctorius/chemistry*
;
Phylogeny
;
Flavonoids/analysis*
;
Glycosides/analysis*
;
Glycosyltransferases/genetics*
;
Anti-Inflammatory Agents
;
Chalcones
6.Correlation analysis of 3D-FLAIR MRI characteristics of the inner ear and vestibular function in the patients with vestibular neuritis.
Hui Rong JIAN ; Na HU ; Xiao Fei LI ; Ya Feng LYU ; Ya Wei LI ; Zhao Min FAN ; Hai Bo WANG ; Dao Gong ZHANG
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2022;57(5):578-583
Objective: The characteristics of 3D-FLAIR MRI images of the inner ear of patients with vestibular neuritis were preliminarily studied to explore the possible pathogenesis of vestibular neuritis, and the correlation analysis was conducted in combination with vestibular function to provide a basis for accurate diagnosis of vestibular neuritis. Methods: A total of 36 patients with vestibular neuritis (VN) from December 2019 to October 2020 were collected from the Vertigo Department of Shandong Provincial ENT Hospital, Cheeloo College of Medicine, Shandong University. There were 36 cases (18 females, 18 males) with unilateral acute vestibular neuritis, 17 cases of left ear and 19 cases of right ear. According to the results of 3D-FLAIR MRI in the inner ears, the patients were divided into the enhanced group and the non-enhanced group (the health side served as the normal control group). The results of vestibular function examination in the two groups were compared. SPSS19.0 software was used for statistical processing to analyze the relationship between the vestibular function and the characteristics of 3D-FLAIR imaging in the inner ears. Results: Abnormal enhancement of 3D-FLAIR was found in 31 cases (86.1%) of the 36 cases, including 14 cases of both vestibular nerve and vestibular terminal organ enhancement, eight cases of superior vestibular nerve enhancement alone, seven cases of vestibular terminal organ enhancement alone, and two cases of cochlear enhancement alone. Observation of abnormal reinforcement of vestibular nerve showed: twenty-one cases of superior vestibular nerve reinforcement, one case of superior and inferior vestibular nerve reinforcement. No abnormalities were found in 3D-FLAIR of inner ear in 5 cases. According to the analysis of vestibular function results, there were 19 cases (52.8%) with total vestibular involvement, sixteen cases (44.4%) with superior vestibular involvement alone, and one case (2.8%) with inferior vestibular involvement alone. Comparison of vestibular function between the five cases (non-enhancement group) and the 31 cases (enhanced group) in the 3D-FLAIR group of the inner ears showed that the CP values of caloric tests in the enhanced group were higher (60.81±3.49 vs 34.12±7.37), with statistically significant difference (t=-2.898, P<0.01). Conclusion: In patients with vestibular neuritis, 3D-FLAIR MRI scan of the inner ear provides visual imaging evidence for clinical practice, considering that the lesion site of vestibular neuritis is not only in the vestibular nerve, but also in the vestibular end organ. Patients with 3D-FLAIR enhanced in the inner ear may have more significant vestibular function damage.
Caloric Tests
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Female
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Humans
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Imaging, Three-Dimensional/methods*
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Magnetic Resonance Imaging/methods*
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Male
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Vestibular Neuronitis/diagnosis*
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Vestibule, Labyrinth
7.Investigation and analysis of imported medicinal materials at Chinese border ports.
Xiao-Jing MA ; Hua-Sheng PENG ; Zhi-Lai ZHAN ; Ling WANG ; Xue-Yan HUANG ; Xiao-Jin LI ; Xiao-Jun MA ; Hai-Bo HUANG ; Min-Hui LI ; Rong ZHAO ; Lu-Qi HUANG
China Journal of Chinese Materia Medica 2022;47(21):5817-5823
Imported medicinal materials are an important part of Chinese medicinal resources. To be specific, about 10% of the around 600 commonly used Chinese medicinal materials are from abroad, and the introduction of foreign medicinal materials has promoted the development of Chinese medicine. Amid the advancement of reform and opening up and the "Belt and Road" Initiative, major headway has been made in the cross-border trade in China, bringing opportunities for the import of medicinal materials from border ports. However, for a long time, there is a lack of systematic investigation on the types of exotic medicinal materials at border ports. In the fourth national census of traditional Chinese medicine resources, National Resource Center for Chinese Materia Medica, China Academy of Chinese Medical Sciences, together with several organizations, investigated the nearly 40 border ports, Chinese medicinal material markets, and border trade markets in 6 provinces/autonomous regions in China for the first time and recorded the types, sources, circulation, and the transaction characteristics of imported medicinal materials. Moreover, they invited experts to identify the origins of the collected 237 medicinal materials. In addition, the status quo and the problems of the medicinal materials were summarized. This study is expected to lay a basis for clarifying the market and origins of imported medicinal materials as well as the scientific research on and supervision of them.
Medicine, Chinese Traditional
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Materia Medica
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Records
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Censuses
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China
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Drugs, Chinese Herbal
8.A multicenter epidemiological study of acute bacterial meningitis in children.
Cai Yun WANG ; Hong Mei XU ; Jiao TIAN ; Si Qi HONG ; Gang LIU ; Si Xuan WANG ; Feng GAO ; Jing LIU ; Fu Rong LIU ; Hui YU ; Xia WU ; Bi Quan CHEN ; Fang Fang SHEN ; Guo ZHENG ; Jie YU ; Min SHU ; Lu LIU ; Li Jun DU ; Pei LI ; Zhi Wei XU ; Meng Quan ZHU ; Li Su HUANG ; He Yu HUANG ; Hai Bo LI ; Yuan Yuan HUANG ; Dong WANG ; Fang WU ; Song Ting BAI ; Jing Jing TANG ; Qing Wen SHAN ; Lian Cheng LAN ; Chun Hui ZHU ; Yan XIONG ; Jian Mei TIAN ; Jia Hui WU ; Jian Hua HAO ; Hui Ya ZHAO ; Ai Wei LIN ; Shuang Shuang SONG ; Dao Jiong LIN ; Qiong Hua ZHOU ; Yu Ping GUO ; Jin Zhun WU ; Xiao Qing YANG ; Xin Hua ZHANG ; Ying GUO ; Qing CAO ; Li Juan LUO ; Zhong Bin TAO ; Wen Kai YANG ; Yong Kang ZHOU ; Yuan CHEN ; Li Jie FENG ; Guo Long ZHU ; Yan Hong ZHANG ; Ping XUE ; Xiao Qin LI ; Zheng Zhen TANG ; De Hui ZHANG ; Xue Wen SU ; Zheng Hai QU ; Ying ZHANG ; Shi Yong ZHAO ; Zheng Hong QI ; Lin PANG ; Cai Ying WANG ; Hui Ling DENG ; Xing Lou LIU ; Ying Hu CHEN ; Sainan SHU
Chinese Journal of Pediatrics 2022;60(10):1045-1053
Objective: To analyze the clinical epidemiological characteristics including composition of pathogens , clinical characteristics, and disease prognosis acute bacterial meningitis (ABM) in Chinese children. Methods: A retrospective analysis was performed on the clinical and laboratory data of 1 610 children <15 years of age with ABM in 33 tertiary hospitals in China from January 2019 to December 2020. Patients were divided into different groups according to age,<28 days group, 28 days to <3 months group, 3 months to <1 year group, 1-<5 years of age group, 5-<15 years of age group; etiology confirmed group and clinically diagnosed group according to etiology diagnosis. Non-numeric variables were analyzed with the Chi-square test or Fisher's exact test, while non-normal distrituction numeric variables were compared with nonparametric test. Results: Among 1 610 children with ABM, 955 were male and 650 were female (5 cases were not provided with gender information), and the age of onset was 1.5 (0.5, 5.5) months. There were 588 cases age from <28 days, 462 cases age from 28 days to <3 months, 302 cases age from 3 months to <1 year of age group, 156 cases in the 1-<5 years of age and 101 cases in the 5-<15 years of age. The detection rates were 38.8% (95/245) and 31.5% (70/222) of Escherichia coli and 27.8% (68/245) and 35.1% (78/222) of Streptococcus agalactiae in infants younger than 28 days of age and 28 days to 3 months of age; the detection rates of Streptococcus pneumonia, Escherichia coli, and Streptococcus agalactiae were 34.3% (61/178), 14.0% (25/178) and 13.5% (24/178) in the 3 months of age to <1 year of age group; the dominant pathogens were Streptococcus pneumoniae and the detection rate were 67.9% (74/109) and 44.4% (16/36) in the 1-<5 years of age and 5-<15 years of age . There were 9.7% (19/195) strains of Escherichia coli producing ultra-broad-spectrum β-lactamases. The positive rates of cerebrospinal fluid (CSF) culture and blood culture were 32.2% (515/1 598) and 25.0% (400/1 598), while 38.2% (126/330)and 25.3% (21/83) in CSF metagenomics next generation sequencing and Streptococcus pneumoniae antigen detection. There were 4.3% (32/790) cases of which CSF white blood cell counts were normal in etiology confirmed group. Among 1 610 children with ABM, main intracranial imaging complications were subdural effusion and (or) empyema in 349 cases (21.7%), hydrocephalus in 233 cases (14.5%), brain abscess in 178 cases (11.1%), and other cerebrovascular diseases, including encephalomalacia, cerebral infarction, and encephalatrophy, in 174 cases (10.8%). Among the 166 cases (10.3%) with unfavorable outcome, 32 cases (2.0%) died among whom 24 cases died before 1 year of age, and 37 cases (2.3%) had recurrence among whom 25 cases had recurrence within 3 weeks. The incidences of subdural effusion and (or) empyema, brain abscess and ependymitis in the etiology confirmed group were significantly higher than those in the clinically diagnosed group (26.2% (207/790) vs. 17.3% (142/820), 13.0% (103/790) vs. 9.1% (75/820), 4.6% (36/790) vs. 2.7% (22/820), χ2=18.71, 6.20, 4.07, all P<0.05), but there was no significant difference in the unfavorable outcomes, mortility, and recurrence between these 2 groups (all P>0.05). Conclusions: The onset age of ABM in children is usually within 1 year of age, especially <3 months. The common pathogens in infants <3 months of age are Escherichia coli and Streptococcus agalactiae, and the dominant pathogen in infant ≥3 months is Streptococcus pneumoniae. Subdural effusion and (or) empyema and hydrocephalus are common complications. ABM should not be excluded even if CSF white blood cell counts is within normal range. Standardized bacteriological examination should be paid more attention to increase the pathogenic detection rate. Non-culture CSF detection methods may facilitate the pathogenic diagnosis.
Adolescent
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Brain Abscess
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Child
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Child, Preschool
;
Escherichia coli
;
Female
;
Humans
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Hydrocephalus
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Infant
;
Infant, Newborn
;
Male
;
Meningitis, Bacterial/epidemiology*
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Retrospective Studies
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Streptococcus agalactiae
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Streptococcus pneumoniae
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Subdural Effusion
;
beta-Lactamases
9.Investigation of small airway function of occupational asthma at different stages.
Yan Ping LI ; Tao GUI ; Dao Yuan SUN ; Jing Bo ZHANG
Chinese Journal of Industrial Hygiene and Occupational Diseases 2022;40(8):577-582
Objective: To analyze the characteristics of small airway dysfunction in patients with occupational asthma, and explore the significance of small airway function indicators in the evaluation of occupational asthma. Methods: A total of 53 patients with occupational asthma diagnosed in our hospital from December 2008 to December 2018 were retrospectively collected in May 2020. 55 healthy people were included as the control group (NC group) and 58 bronchial asthma patients as BA group. The general information and baseline pulmonary function (FVC、FEV(1)、PEF) of the subjects were collected, the pulmonary function were reexamined and small airway function (FEF(25%)pred、FEF(50%)pred、FEF(75%)pred、MMEF(25-75%)pred) were tested at the time of diagnosis and remission. Results: There was no significant difference in pulmonary function and asthma control score (ACT) between OA group and BA group (P=0.356, 0.610, 0.364, 0.430, 0.533, 0.759, 0.426, 0.632) . The incidence of small airway dysfunction in OA group was 77.4%. The indexes of small airway function (FEF(25%)pred, FEF(50%)pred, FEF(75%)pred, MMEF(25-75%)pred) were lower than those in the NC group (P<0.001) . The small airway function indexes of mild and moderate OA patients in remission stage were improved (P=0.029, 0.182) , but the abnormal rate of small airway function was still 62.3%, and there was no significant difference compared with those at the time of diagnosis (P=0.091) . Small airway function (MMEF(25-75%)pred, FEF(50%)pred) was correlated with large airway function (FEV(1)% pred, PEF% pred) (P=0.001) . Conclusion: Small airway dysfunction often occurs and persists in patients with occupational asthma, and has a certain correlation with large airway function indexes.
Asthma, Occupational
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Humans
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Lung
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Respiratory Function Tests
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Retrospective Studies
10.Identification of COL3A1 variants associated with sporadic thoracic aortic dissection: a case-control study.
Yanghui CHEN ; Yang SUN ; Zongzhe LI ; Chenze LI ; Lei XIAO ; Jiaqi DAI ; Shiyang LI ; Hao LIU ; Dong HU ; Dongyang WU ; Senlin HU ; Bo YU ; Peng CHEN ; Ping XU ; Wei KONG ; Dao Wen WANG
Frontiers of Medicine 2021;15(3):438-447
Thoracic aortic dissection (TAD) without familial clustering or syndromic features is known as sporadic TAD (STAD). So far, the genetic basis of STAD remains unknown. Whole exome sequencing was performed in 223 STAD patients and 414 healthy controls from the Chinese Han population (N = 637). After population structure and genetic relationship and ancestry analyses, we used the optimal sequence kernel association test to identify the candidate genes or variants of STAD. We found that COL3A1 was significantly relevant to STAD (P = 7.35 × 10
Aneurysm, Dissecting/genetics*
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Case-Control Studies
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Cluster Analysis
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Cohort Studies
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Collagen Type III/genetics*
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Computational Biology
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Genetic Predisposition to Disease
;
Humans

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