1.Comparison of sleep EEG power spectral density between depressive episode patients and schizophrenia patients with suicidal behavior
Jingwen LIU ; Yunfei ZHOU ; Jingchu HU ; Jiaoyan ZHOU ; Junwei YANG ; Jie LIANG ; Hong XU ; Yu CANG ; Shimeng MA
Sichuan Mental Health 2026;39(1):50-57
BackgroundPatients with depressive episode and schizophrenia have a high risk of suicide. The sleep electroencephalogram power spectral density characteristics of patients with depressive episode accompanied by suicidal behavior and those with schizophrenia may be different, but there is currently a lack of direct comparative studies on these two groups of patients. ObjectiveTo compare the sleep electroencephalogram power spectral density between depressive episode and schizophrenic patients with suicidal behavior, in order to provide references for exploring predictive indicators of suicidal behavior. MethodsFrom June 2018 to December 2020, 20 patients with depressive episode and 20 patients with schizophrenia who had committed suicide within the past month and were treated at the outpatient department of Shenzhen Kangning Hospital were selected. All of them met the diagnostic criteria for depressive episode or schizophrenia as defined in the International Classification of Diseases, tenth edition (ICD-10). Using a random sampling method, 20 volunteers with matching gender and age to the patient groups were selected from the Cuiping community in Shenzhen as the control group. The subjective sleep of the patients was evaluated using the Insomnia Severity Index (ISI), the Dysfunctional Belief and Attitude about Sleep (DBAS), the Disturbing Dreams and Nightmare Severity Index (DDNSI), and the Epworth Somnolence Scale (ESS). The objective sleep of the patients was assessed using polysomnography. The sleep electroencephalogram was filtered and the power spectral density of the brain wave was analyzed and processed for all the subjects. The subjective and objective sleep conditions of the two patient groups were compared, and the sleep electroencephalogram power spectral density of the patient groups and the control group were also compared. ResultsA comparison of subjective and objective sleep conditions between patients with depressive episode accompanied by suicidal behavior and patients with schizophrenia accompanied by suicidal behavior showed no statistically significant differences (P>0.05). Comparisons of sleep electroencephalogram power spectral density in the W stage (average power of α wave, total power of δ wave, average power of δ wave, average power of θ wave), N1 stage (average power of β wave, total power of α wave, total power of δ wave), N2 stage (total power of α wave, average power of α wave, total power of δ wave, average power of δ wave), N3 stage (average power of α wave, average power of δ wave), and R stage (total power of α wave, average power of α wave, total power of δ wave, average power of δ wave) between patients with depressive episode accompanied by suicidal behavior, patients with schizophrenia accompanied by suicidal behavior, and the control group showed statistically significant differences (P<0.05 or 0.01). The total power of δ wave in the W stage and the average power of β wave and δ wave in the N1 stage were higher in two patient groups were higher than those of the control group. The total power of α wave and the average power of α wave in the N2 stage were lower than those of the control group, while the average power of δ wave was higher than that of the control group. The average power of α wave in the N3 stage of both patient groups were lower than that of the control group, while the average power of δ wave was higher than that of the control group. The total power and average power of α wave in the R stage were lower than those of the control group, while the total power and average power of δ wave were higher than those of the control group. All the differences were statistically significant. Patients with depressive episode accompanied by suicidal behavior had higher average powers of α wave, δ wave, and θ wave in the W stage compared with the control group, while the total power of α wave in the N1 stage was lower in the former group. All these differences were statistically significant (P<0.05). ConclusionThe depressive episode patients accompanied by suicidal behavior have highly overlapping sleep electroencephalogram abnormal patterns with those of schizophrenia patients, mainly manifested as a general decrease in α wave power (N2, N3, R stage) and a general increase in δ wave power (W, N1, N2, N3, R stage) as well as β wave power in N1 stage. At the same time, patients with depressive episode accompanied by suicidal behavior also show specific changes, including an increase in the average power of α and θ waves during the wakefulness period (W stage), and a decrease in the total power of α wave in N1 stage. [Funded by Guangdong Province High-level Clinical Key Specialty (with supporting funds from Shenzhen City) (number, SZGSP013); Shenzhen Key Medical Discipline (number, SZXK041); Shenzhen Clinical Medicine Research Center Project (number, 20210617155253001)]
2.Expert consensus on orthodontic treatment of protrusive facial deformities.
Jie PAN ; Yun LU ; Anqi LIU ; Xuedong WANG ; Yu WANG ; Shiqiang GONG ; Bing FANG ; Hong HE ; Yuxing BAI ; Lin WANG ; Zuolin JIN ; Weiran LI ; Lili CHEN ; Min HU ; Jinlin SONG ; Yang CAO ; Jun WANG ; Jin FANG ; Jiejun SHI ; Yuxia HOU ; Xudong WANG ; Jing MAO ; Chenchen ZHOU ; Yan LIU ; Yuehua LIU
International Journal of Oral Science 2025;17(1):5-5
Protrusive facial deformities, characterized by the forward displacement of the teeth and/or jaws beyond the normal range, affect a considerable portion of the population. The manifestations and morphological mechanisms of protrusive facial deformities are complex and diverse, requiring orthodontists to possess a high level of theoretical knowledge and practical experience in the relevant orthodontic field. To further optimize the correction of protrusive facial deformities, this consensus proposes that the morphological mechanisms and diagnosis of protrusive facial deformities should be analyzed and judged from multiple dimensions and factors to accurately formulate treatment plans. It emphasizes the use of orthodontic strategies, including jaw growth modification, tooth extraction or non-extraction for anterior teeth retraction, and maxillofacial vertical control. These strategies aim to reduce anterior teeth and lip protrusion, increase chin prominence, harmonize nasolabial and chin-lip relationships, and improve the facial profile of patients with protrusive facial deformities. For severe skeletal protrusive facial deformities, orthodontic-orthognathic combined treatment may be suggested. This consensus summarizes the theoretical knowledge and clinical experience of numerous renowned oral experts nationwide, offering reference strategies for the correction of protrusive facial deformities.
Humans
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Orthodontics, Corrective/methods*
;
Consensus
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Malocclusion/therapy*
;
Patient Care Planning
;
Cephalometry
3.Expert consensus on the prevention and treatment of enamel demineralization in orthodontic treatment.
Lunguo XIA ; Chenchen ZHOU ; Peng MEI ; Zuolin JIN ; Hong HE ; Lin WANG ; Yuxing BAI ; Lili CHEN ; Weiran LI ; Jun WANG ; Min HU ; Jinlin SONG ; Yang CAO ; Yuehua LIU ; Benxiang HOU ; Xi WEI ; Lina NIU ; Haixia LU ; Wensheng MA ; Peijun WANG ; Guirong ZHANG ; Jie GUO ; Zhihua LI ; Haiyan LU ; Liling REN ; Linyu XU ; Xiuping WU ; Yanqin LU ; Jiangtian HU ; Lin YUE ; Xu ZHANG ; Bing FANG
International Journal of Oral Science 2025;17(1):13-13
Enamel demineralization, the formation of white spot lesions, is a common issue in clinical orthodontic treatment. The appearance of white spot lesions not only affects the texture and health of dental hard tissues but also impacts the health and aesthetics of teeth after orthodontic treatment. The prevention, diagnosis, and treatment of white spot lesions that occur throughout the orthodontic treatment process involve multiple dental specialties. This expert consensus will focus on providing guiding opinions on the management and prevention of white spot lesions during orthodontic treatment, advocating for proactive prevention, early detection, timely treatment, scientific follow-up, and multidisciplinary management of white spot lesions throughout the orthodontic process, thereby maintaining the dental health of patients during orthodontic treatment.
Humans
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Consensus
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Dental Caries/etiology*
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Dental Enamel/pathology*
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Tooth Demineralization/etiology*
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Tooth Remineralization
4.Expert consensus on the clinical strategies for orthodontic treatment with clear aligners.
Yan WANG ; Hu LONG ; Zhihe ZHAO ; Ding BAI ; Xianglong HAN ; Jun WANG ; Bing FANG ; Zuolin JIN ; Hong HE ; Yuxin BAI ; Weiran LI ; Min HU ; Yanheng ZHOU ; Hong AI ; Yuehua LIU ; Yang CAO ; Jun LIN ; Huang LI ; Jie GUO ; Wenli LAI
International Journal of Oral Science 2025;17(1):19-19
Clear aligner treatment is a novel technique in current orthodontic practice. Distinct from traditional fixed orthodontic appliances, clear aligners have different material features and biomechanical characteristics and treatment efficiencies, presenting new clinical challenges. Therefore, a comprehensive and systematic description of the key clinical aspects of clear aligner treatment is essential to enhance treatment efficacy and facilitate the advancement and wide adoption of this new technique. This expert consensus discusses case selection and grading of treatment difficulty, principle of clear aligner therapy, clinical procedures and potential complications, which are crucial to the clinical success of clear aligner treatment.
Humans
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Consensus
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Orthodontic Appliance Design
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Orthodontic Appliances, Removable
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Tooth Movement Techniques/methods*
;
Malocclusion/therapy*
;
Orthodontics, Corrective/instrumentation*
5.Expert consensus on early orthodontic treatment of class III malocclusion.
Xin ZHOU ; Si CHEN ; Chenchen ZHOU ; Zuolin JIN ; Hong HE ; Yuxing BAI ; Weiran LI ; Jun WANG ; Min HU ; Yang CAO ; Yuehua LIU ; Bin YAN ; Jiejun SHI ; Jie GUO ; Zhihua LI ; Wensheng MA ; Yi LIU ; Huang LI ; Yanqin LU ; Liling REN ; Rui ZOU ; Linyu XU ; Jiangtian HU ; Xiuping WU ; Shuxia CUI ; Lulu XU ; Xudong WANG ; Songsong ZHU ; Li HU ; Qingming TANG ; Jinlin SONG ; Bing FANG ; Lili CHEN
International Journal of Oral Science 2025;17(1):20-20
The prevalence of Class III malocclusion varies among different countries and regions. The populations from Southeast Asian countries (Chinese and Malaysian) showed the highest prevalence rate of 15.8%, which can seriously affect oral function, facial appearance, and mental health. As anterior crossbite tends to worsen with growth, early orthodontic treatment can harness growth potential to normalize maxillofacial development or reduce skeletal malformation severity, thereby reducing the difficulty and shortening the treatment cycle of later-stage treatment. This is beneficial for the physical and mental growth of children. Therefore, early orthodontic treatment for Class III malocclusion is particularly important. Determining the optimal timing for early orthodontic treatment requires a comprehensive assessment of clinical manifestations, dental age, and skeletal age, and can lead to better results with less effort. Currently, standardized treatment guidelines for early orthodontic treatment of Class III malocclusion are lacking. This review provides a comprehensive summary of the etiology, clinical manifestations, classification, and early orthodontic techniques for Class III malocclusion, along with systematic discussions on selecting early treatment plans. The purpose of this expert consensus is to standardize clinical practices and improve the treatment outcomes of Class III malocclusion through early orthodontic treatment.
Humans
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Malocclusion, Angle Class III/classification*
;
Orthodontics, Corrective/methods*
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Consensus
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Child
6.Application of multi-slice spiral CT in the preoperative diagnosis and classification of inguinal hernia
Qing-jie SONG ; Hong-yu ZHU ; Hui SONG ; Qing-chao HU ; Zhong-hui ZHU
Journal of Regional Anatomy and Operative Surgery 2025;34(5):401-404
Objective To analyze the application value of multi-slice spiral CT(MSCT)in the preoperative diagnosis and classification of inguinal hernia.Methods The clinical data of 130 patients with inguinal hernia admitted to our hospital were collected,and all patients underwent inguinal hernia repair.MSCT examination was conducted for the inguinal hernia of the patients,and the efficacy of MSCT in the diagnosis of different types of inguinal hernia was explored by taking the intraoperative diagnosis results as the gold standard.The contents of the hernia sac in patients with different types of inguinal hernia were analyzed,and the accuracy of MSCT under different scanning directions on the relationship between neck of hernia sac and inferior epigastric artery was analyzed.Results The intraoperative diagnosis results confirmed that there were 92 cases of oblique hernia,26 cases of direct hernia and 12 cases of femoral hernia among 130 patients with inguinal hernia.A total of 139 hernia sacs were present,with 121 unilateral and 9 bilateral hernia sacs.Among patients with oblique hernias,87 cases were unilateral and 5 cases were bilateral;among patients with direct hernias,23 cases were unilateral and 3 cases were bilateral;among patients with femoral hernias,11 cases were unilateral and 1 case was bilateral.The MSCT scan results showed that patients with oblique hernia,direct hernia and femoral hernia were 92 cases,26 cases and 12 cases respectively.The sensitivities of MSCT in diagnosing oblique hernia,direct hernia and femoral hernia were 95.65%,84.62%and 100%respectively,and the specificities were 89.47%,96.15%and 100%respectively.The contents of the hernia sac in oblique hernia were mainly small intestine and mesentery,while those in direct hernia and femoral hernia were mainly small intestine and fat.The proportions of fat and bladder in the contents of the hernia sac of direct hernia were higher than those of oblique hernia and femoral hernia(P<0.05).The proportion of mesentery in the contents of the hernia sac of oblique hernia was higher than that of direct hernia and femoral hernia(P<0.05).According to the relationship between hernia sac neck and inferior epigastric artery,the diagnostic accuracy of inguinal hernia by MSCT under coronal scan was the highest.Conclusion The sensitivity and specificity of MSCT in the preoperative differential diagnosis of inguinal hernia are relatively high,and the accuracy of MSCT in classification diagnosis can be improved if combined the contents of the hernia sac and the relationship between the hernia sac neck and inferior epigastric artery.
7.Expert Consensus on the Ethical Requirements for Generative AI-Assisted Academic Writing
You-Quan BU ; Yong-Fu CAO ; Zeng-Yi CHANG ; Hong-Yu CHEN ; Xiao-Wei CHEN ; Yuan-Yuan CHEN ; Zhu-Cheng CHEN ; Rui DENG ; Jie DING ; Zhong-Kai FAN ; Guo-Quan GAO ; Xu GAO ; Lan HU ; Xiao-Qing HU ; Hong-Ti JIA ; Ying KONG ; En-Min LI ; Ling LI ; Yu-Hua LI ; Jun-Rong LIU ; Zhi-Qiang LIU ; Ya-Ping LUO ; Xue-Mei LV ; Yan-Xi PEI ; Xiao-Zhong PENG ; Qi-Qun TANG ; You WAN ; Yong WANG ; Ming-Xu WANG ; Xian WANG ; Guang-Kuan XIE ; Jun XIE ; Xiao-Hua YAN ; Mei YIN ; Zhong-Shan YU ; Chun-Yan ZHOU ; Rui-Fang ZHU
Chinese Journal of Biochemistry and Molecular Biology 2025;41(6):826-832
With the rapid development of generative artificial intelligence(GAI)technologies,their widespread application in academic research and writing is continuously expanding the boundaries of sci-entific inquiry.However,this trend has also raised a series of ethical and regulatory challenges,inclu-ding issues related to authorship,content authenticity,citation accuracy,and accountability.In light of the growing involvement of AI in generating academic content,establishing an open,controllable,and trustworthy ethical governance framework has become a key task for safeguarding research integrity and maintaining trust within the academic community.This expert consensus outlines ethical requirements across key stages of AI-assisted academic writing-including topic selection,data management,citation practices,and authorship attribution.It aims to clarify the boundaries and ethical obligations surrounding AI use in academic writing,ensuring that technological tools enhance efficiency without compromising in-tegrity.The goal is to provide guidance and institutional support for building a responsible and sustainable research ecosystem.
8.Changing prevalence and antibiotic resistance profiles of carbapenem-resistant Enterobacterales in hospitals across China:data from CHINET Antimicrobial Resistance Surveillance Program,2015-2021
Wenxiang JI ; Tong JIANG ; Jilu SHEN ; Yang YANG ; Fupin HU ; Demei ZHU ; Yuanhong XU ; Ying HUANG ; Fengbo ZHANG ; Ping JI ; Yi XIE ; Mei KANG ; Chuanqing WANG ; Pan FU ; Yingchun XU ; Xiaojiang ZHANG ; Ziyong SUN ; Zhongju CHEN ; Yuxing NI ; Jingyong SUN ; Yunzhuo CHU ; Sufei TIAN ; Zhidong HU ; Jin LI ; Yunsong YU ; Jie LIN ; Bin SHAN ; Yan DU ; Sufang GUO ; Lianhua WEI ; Fengmei ZOU ; Yunjian HU ; Xiaoman AI ; Chao ZHUO ; Danhong SU ; Dawen GUO ; Jinying ZHAO ; Hua YU ; Xiangning HUANG ; Wen'en LIU ; Yanming LI ; Yan JIN ; Chunhong SHAO ; Xuesong XU ; Chao YAN ; Shanmei WANG ; Yafei CHU ; Lixia ZHANG ; Juan MA ; Shuping ZHOU ; Yan ZHOU ; Lei ZHU ; Jinhua MENG ; Fang DONG ; Zhiyong LÜ ; Fangfang HU ; Han SHEN ; Wanqing ZHOU ; Wei JIA ; Gang LI ; Jinsong WU ; Yuemei LU ; Jihong LI ; Jinju DUAN ; Jianbang KANG ; Xiaobo MA ; Yanping ZHENG ; Ruyi GUO ; Yan ZHU ; Yunsheng CHEN ; Qing MENG ; Shifu WANG ; Xuefei HU ; Hong ZHANG ; Chun WANG ; Wenhui HUANG ; Ruizhong WANG ; Hua FANG ; Bixia YU ; Yong ZHAO ; Ping GONG ; Kaizhen WENG ; Yirong ZHANG ; Jiangshan LIU ; Longfeng LIAO ; Hongqin GU ; Lin JIANG ; Wen HE ; Shunhong XUE ; Jiao FENG ; Chunlei YUE
Chinese Journal of Infection and Chemotherapy 2025;25(4):445-454
Objective To summarize the changing prevalence of carbapenem resistance in Enterobacterales based on the data of CHINET Antimicrobial Resistance Surveillance Program from 2015 to 2021 for improving antimicrobial treatment in clinical practice.Methods Antimicrobial susceptibility testing was performed using a commercial automated susceptibility testing system according to the unified CHINET protocol.The results were interpreted according to the breakpoints of the Clinical & Laboratory Standards Institute(CLSI)M100 31st ed in 2021.Results Over the seven-year period(2015-2021),the overall prevalence of carbapenem-resistant Enterobacterales(CRE)was 9.43%(62 342/661 235).The prevalence of CRE strains in Klebsiella pneumoniae,Citrobacter freundii,and Enterobacter cloacae was 22.38%,9.73%,and 8.47%,respectively.The prevalence of CRE strains in Escherichia coli was 1.99%.A few CRE strains were also identified in Salmonella and Shigella.The CRE strains were mainly isolated from respiratory specimens(44.23±2.80)%,followed by blood(20.88±3.40)%and urine(18.40±3.45)%.Intensive care units(ICUs)were the major source of the CRE strains(27.43±5.20)%.CRE strains were resistant to all the β-lactam antibiotics tested and most non-β-lactam antimicrobial agents.The CRE strains were relatively susceptible to tigecycline and polymyxins with low resistance rates.Conclusions The prevalence of CRE strains was increasing from 2015 to 2021.CRE strains were highly resistant to most of the antibacterial drugs used in clinical practice.Clinicians should prescribe antimicrobial agents rationally.Hospitals should strengthen antibiotic stewardship in key clinical settings such as ICUs,and take effective infection control measures to curb CRE outbreak and epidemic in hospitals.
9.Changing distribution and antibiotic resistance profiles of the respiratory bacterial isolates in hospitals across China:data from CHINET Antimicrobial Resistance Surveillance Program,2015-2021
Ying FU ; Yunsong YU ; Jie LIN ; Yang YANG ; Fupin HU ; Demei ZHU ; Yingchun XU ; Xiaojiang ZHANG ; Fengbo ZHANG ; Ping JI ; Yi XIE ; Mei KANG ; Chuanqing WANG ; Pan FU ; Yuanhong XU ; Ying HUANG ; Ziyong SUN ; Zhongju CHEN ; Yuxing NI ; Jingyong SUN ; Yunzhuo CHU ; Sufei TIAN ; Zhidong HU ; Jin LI ; Bin SHAN ; Yan DU ; Sufang GUO ; Lianhua WEI ; Fengmei ZOU ; Hong ZHANG ; Chun WANG ; Yunjian HU ; Xiaoman AI ; Chao ZHUO ; Danhong SU ; Dawen GUO ; Jinying ZHAO ; Hua YU ; Xiangning HUANG ; Wen'en LIU ; Yanming LI ; Yan JIN ; Chunhong SHAO ; Xuesong XU ; Chao YAN ; Shanmei WANG ; Yafei CHU ; Lixia ZHANG ; Juan MA ; Shuping ZHOU ; Yan ZHOU ; Lei ZHU ; Jinhua MENG ; Fang DONG ; Zhiyong LÜ ; Fangfang HU ; Han SHEN ; Wanqing ZHOU ; Wei JIA ; Gang LI ; Jinsong WU ; Yuemei LU ; Jihong LI ; Jinju DUAN ; Jianbang KANG ; Xiaobo MA ; Yanping ZHENG ; Ruyi GUO ; Yan ZHU ; Yunsheng CHEN ; Qing MENG ; Shifu WANG ; Xuefei HU ; Jilu SHEN ; Ruizhong WANG ; Hua FANG ; Bixia YU ; Yong ZHAO ; Ping GONG ; Kaizhen WENG ; Yirong ZHANG ; Jiangshan LIU ; Longfeng LIAO ; Hongqin GU ; Lin JIANG ; Wen HE ; Shunhong XUE ; Jiao FENG ; Chunlei YUE ; Wenhui HUANG
Chinese Journal of Infection and Chemotherapy 2025;25(4):431-444
Objective To characterize the changing species distribution and antibiotic resistance profiles of respiratory isolates in hospitals participating in the CHINET Antimicrobial Resistance Surveillance Program from 2015 to 2021.Methods Commercial automated antimicrobial susceptibility testing systems and disk diffusion method were used to test the susceptibility of respiratory bacterial isolates to antimicrobial agents following the standardized technical protocol established by the CHINET program.Results A total of 589 746 respiratory isolates were collected from 2015 to 2021.Overall,82.6%of the isolates were Gram-negative bacteria and 17.4%were Gram-positive bacteria.The bacterial isolates from outpatients and inpatients accounted for(6.0±0.9)%and(94.0±0.1)%,respectively.The top microorganisms were Klebsiella spp.,Acinetobacter spp.,Pseudomonas aeruginosa,Staphylococcus aureus,Haemophilus spp.,Stenotrophomonas maltophilia,Escherichia coli,and Streptococcus pneumoniae.Each microorganism was isolated from significantly more males than from females(P<0.05).The overall prevalence of methicillin-resistant S.aureus(MRSA)was 39.9%.The prevalence of penicillin-resistant S.pneumoniae was 1.4%.The prevalence of extended-spectrum β-lactamase(ESBL)-producing E.coli and K.pneumoniae was 67.8%and 41.3%,respectively.The overall prevalence of carbapenem-resistant E.coli,K.pneumoniae,Enterobacter cloacae,Pseudomonas aeruginosa,and Acinetobacter baumannii was 3.7%,20.8%,9.4%,29.8%,and 73.3%,respectively.The prevalence of β-lactamase was 96.1%in Moraxella catarrhalis and 60.0%in Haemophilus influenzae.The H.influenzae isolates from children(<18 years)showed significantly higher resistance rates to β-lactam antibiotics than the isolates from adults(P<0.05).Conclusions Gram-negative bacteria are still predominant in respiratory isolates associated with serious antibiotic resistance.Antimicrobial resistance surveillance should be strengthened in clinical practice to support accurate etiological diagnosis and appropriate antimicrobial therapy based on antimicrobial susceptibility testing results.
10.A Case Report of Pachydermoperiostosis by Multidisciplinary Diagnosis and Treatment
Jie ZHANG ; Yan ZHANG ; Li HUO ; Ke LYU ; Tao WANG ; Ze'nan XIA ; Xiao LONG ; Kexin XU ; Nan WU ; Bo YANG ; Weibo XIA ; Rongrong HU ; Limeng CHEN ; Ji LI ; Xia HONG ; Yan ZHANG ; Yagang ZUO
JOURNAL OF RARE DISEASES 2025;4(1):75-82
A 20-year-old male patient presented to the Department of Dermatology of Peking Union Medical College Hospital with complaints of an 8-year history of facial scarring, swelling of the lower limbs, and a 4-year history of scalp thickening. Physical examination showed thickening furrowing wrinkling of the skin on the face and behind the ears, ciliary body hirsutism, blepharoptosis, and cutis verticis gyrate. Both lower limbs were swollen, especially the knees and ankles. The skin of the palms and soles of the feet was keratinized and thickened. Laboratory examination using bone and joint X-ray showed periostosis of the proximal middle phalanges and metacarpals of both hands, distal ulna and radius, tibia and fibula, distal femurs, and metatarsals.Genetic testing revealed two variants in

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