1.Genetic disease diagnosis and treatment in Shanghai: Survey and countermeasures for clinical genetics specialist training.
Xiaoju HUANG ; Lin HAN ; Li CAO ; Taosheng HUANG ; Duan MA ; Jian WANG ; Wenjuan QIU ; Fanyi ZENG ; Luming SUN ; Chenming XU ; Songchang CHEN ; Xinyu KUANG ; Hong TIAN
Chinese Journal of Medical Genetics 2026;43(4):241-247
OBJECTIVE:
To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists.
METHODS:
By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements.
RESULTS:
The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development.
CONCLUSION
Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.
Humans
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China
;
Surveys and Questionnaires
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Genetic Diseases, Inborn/genetics*
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Cross-Sectional Studies
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Genetics, Medical/education*
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Genetic Testing
2.A study on the construction of communication strategies for informing patients with advanced cancer
Yutong LIU ; Zhenqi LU ; Xiaoju ZHANG ; Zhe HUANG
Chinese Journal of Practical Nursing 2024;40(13):1000-1008
Objective:To construct a communication strategy and implementation method for advanced cancer patients based on two communication models widely used at home and abroad, so as to reduce the difficulty of clinical disease notification.Methods:From January to October 2022, based on the communication model of SPIKES (Setting, Perception, Invitation, Knowledge, Empathy, Summary) and NURSE(Name, Understand, Respect, Support, Explore), combined with literature analysis, qualitative interviews, and expert argumentation, the communication strategy items of advanced cancer patients were constructed.Results:A total of 18 articles were included in the literature analysis. Qualitative interviews were conducted with 20 interviewees (including 4 doctors, 11 nurses, and 5 patients),6 males, 14 females, aged (35.94 ± 8.03) years old. A total of 8 experts participated in the demonstration, 2 males and 6 females, aged (41.88 ± 6.58) years old. Finally, the specific items and words of the disease notification process and communication strategies of advanced cancer patients in line with China ′s clinical practice were constructed. A total of 3 first-level items, 16 second-level items, 53 third-level items, and speech techniques were constructed, including pre-communication preparation, regular communication strategies, and poor communication disposal strategies. The importance score of the item was 4.50 to 5.00, and the coefficient of variation of the item was 0 to 0.12. Conclusions:The communication strategy of advanced cancer patients based on the communication model is scientific and feasible, and can be used as a tool to inform advanced cancer patients.
3.Expert consensus on antiviral therapy of COVID-19
Fujie ZHANG ; Zhuo WANG ; Quanhong WANG ; Qing MAO ; Jinsong BAI ; Hanhui YE ; Jia TIAN ; Tianxin XIANG ; Jihong AN ; Zujiang YU ; Wenjie YANG ; Xingxiang YANG ; Xiaoju ZHANG ; Jie ZHANG ; Lina ZHANG ; Xingwang LI ; Jiabin LI ; Manxiang LI ; Zhiwei LI ; Hourong ZHOU ; Yi SHI ; Xiaoling XU ; Xiaoping TANG ; Hong TANG ; Xixin YAN ; Wenxiang HUANG ; Chaolin HUANG ; Liang DONG ; Baosong XIE ; Jiandong JIANG ; Bin XIONG ; Xuemei WEI ; Jifang SHENG ; Ronghua JIN
Chinese Journal of Clinical Infectious Diseases 2023;16(1):10-20
COVID-19 is caused by a novel coronavirus-severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2), which has being spreading around the world, posing a serious threat to human health and lives. Neutralizing antibodies and small molecule inhibitors for virus replication cycle are the main antiviral treatment for novel coronavirus recommended in China. To further promote the rational use of antiviral therapy in clinical practice, the National Center for Infectious Diseases (Beijing Ditan Hospital Capital Medical University and the First Affiliated Hospital, Zhejiang University School of Medicine) invited experts in fields of infectious diseases, respiratory and intensive care to develop an Expert Consensus on Antiviral Therapy of COVID-19 based on the Diagnosis and Treatment Guideline for COVID-19 ( trial version 10) and experiences in the diagnosis and treatment of COVID-19 in China. The consensus is concise, practical and highly operable, hopefully it would improve the understanding of antiviral therapy for clinicians and provide suggestions for standardized medication in treatment of COVID-19.
4.Immune response after vaccination using inactivated vaccine for coronavirus disease 2019.
Ya SUN ; Haonan KANG ; Yilan ZHAO ; Kai CUI ; Xuan WU ; Shaohui HUANG ; Chaofan LIANG ; Wenqiang WANG ; Huixia CAO ; Xiaoju ZHANG ; Fengmin SHAO
Chinese Medical Journal 2023;136(12):1497-1499
5.Expert consensus on perioperative nursing management of nutrition for elderly patients with hip fractures (version 2023)
Chunhua DENG ; Xiaohua CHEN ; Zhihua YIN ; Yao JIANG ; Xiaoju TAN ; Yaping CHEN ; Junqin DING ; Luo FAN ; Leling FENG ; Yuyun GAN ; Xiaoyan GAO ; Jinli GUO ; Jing HU ; Chen HUANG ; Guiling HUANG ; Tianwen HUANG ; Yingchun HUANG ; Hui JIN ; Yan JIN ; Fangfang LI ; Hui LI ; Hui LIU ; Ping LIU ; Ning NING ; Lingyun SHI ; Guomin SONG ; Yani SUN ; Guangling WANG ; Jie WANG ; Qi WANG ; Xia WANG ; Xiaoyun WANG ; Yi WANG ; Songmei WU ; Jian YANG ; Yumei ZHANG ; Yang ZHOU ; Xiaoyan WANG ; Yuan GAO
Chinese Journal of Trauma 2023;39(5):394-403
Hip fractures are among the most common fractures in the elderly, presenting to be a leading cause of disability and mortality. Surgical treatment is currently the main treatment method for hip fractures. The incidence of perioperative malnutrition is increased after hip fractures in the elderly due to the comorbidities, decreased basal metabolic rate, accelerated protein breakdown, weakened anabolism and surgical stress. However, malnutrition not only increases the incidence of postoperative complications, but also leads to increased mortality, indicating an important role of perioperative nursing management of nutrition for the elderly patients with hip fractures. At present, there still lacks scientific guidance and application standards on perioperative nursing management of nutrition for the elderly patients with hip fractures. Therefore, the Orthopedic Nursing Committee of Chinese Nursing Association and the Editorial Board of Chinese Journal of Trauma organized relevant experts to formulate the Expert consensus on perioperative nursing management of nutrition for elderly patients with hip fractures ( version 2023) according to evidence-based medical evidences and their clinical experiences. Fourteen recommendations were made from aspects of nutrition screening, nutrition assessment, nutrition diagnosis, nutrition intervention and nutrition monitoring to provide guidance for perioperative nursing management of nutrition in elderly patients with hip fractures.
6.Ultrasound fusion navigation-guided core needle biopsy for lesions involved the parapharyngeal space, infratemporal fossa, and skull base: a pilot study
Xiaoju LI ; Jian LI ; Nianzhen ZHENG ; Hanliang HU ; Xiaoyan XIE ; Guangliang HUANG
Chinese Journal of Ultrasonography 2023;32(2):144-148
Objective:To explore the value of ultrasound fusion navigation technology in the biopsy of parapharyngeal-infratemporal fossa-skull base (PIS) lesions.Methods:This study was conducted at the First Affiliated Hospital of Sun Yat-Sen University from March 2021 to March 2022 and included 8 patients [3 females and 5 males; age, (50±20) years; range, 16-76 years] with PIS lesions who needed to clarify the pathological diagnosis. The ultrasound fusion navigation with CT or MRI was used to guide lesion biopsy, and the technical feasibility, pathological diagnostic results and complications were evaluated.Results:The biopsy procedures were successful in all 8 patients, and the lesion size ranged from 2.2 to 6.5 cm. The exact pathological diagnosis was obtained in 7 patients, and the diagnostic rate was 87.5% (7/8). No major complication was observed after the biopsy. Mild complications occurred in 1 case, with a incidence of 12.5% (1/8).Conclusions:Ultrasound fusion navigation-guided biopsy is feasible, effective, and safe in the biopsy of deep head and neck lesions.
7.Evaluation of functional tricuspid regurgitant valves and right heart structural and functional changes by four-dimensional auto quantitative techniques
Yongzhi CAI ; Xiaofeng ZHANG ; Xiaoju LUO ; Jingtao LI ; Tongtong HUANG ; Linyan LI ; Ji WU
Chinese Journal of Ultrasonography 2023;32(5):437-443
Objective:To comprehensively evaluate the tricuspid valve, right heart anatomical characteristics and related dynamic parameters in patients with different degrees of functional tricuspid regurgitation (FTR) using four-dimensional auto tricuspid valve quantitative(4D Auto TVQ), four-dimensional auto right ventricle quantitative(4D Auto RVQ), and four-dimensional auto left atrium quantitative(4D Auto LAQ), and to investigate the structural and functional changes of the tricuspid valve and right heart in them.Methods:Sixty-three patients with FTR diagnosed by echocardiography at the First Affiliated Hospital of Guangxi Medical University from February to July 2022 were prospectively selected as the case group, including 30 patients with mild FTR and 33 patients with moderate or above FTR, and 30 healthy subjects were selected as the control group. Transthoracic echocardiography was used for two-dimensional and three-dimensional image acquisition of the heart. The tricuspid regurgitation volume, left ventricular ejection fraction (LVEF), right ventricular global strain (RVGS) were measured by 2D images, and pulmonary artery systolic pressure (PASP) were measured from the tricuspid regurgitation pressure difference. The 3D images were imported into EchoPAC 204 to obtain the tricuspid valve, right heart structure and related dynamic parameters. The annulus area (AA), annulus perimeter(AP), spherical index (SI), annulus area change fraction (AC), coaptation point height (CPH), and tenting volume (TV) were measured by 4D Auto TVQ. The right atrial maximum volume (RAVmax) and right atrial minimum volume (RAVmin) were measured by 4D Auto LAQ. Right ventricular end-diastolic volume (RVEDV), right ventricular end-systolic volume (RVESV), right ventricular fractional area change (RVFAC) and tricuspid annular plane systolic excursion (TAPSE) were measured by 4D Auto RVQ. After standardizing the dimension parameters with body surface area (BSA), the differences in the above parameters were compared between the three groups, the correlation between regurgitant volume and each parameter was compared by correlation analysis, and the independent factors of increased tricuspid regurgitant volume were investigated by univariate and multivariate linear regression analysis.Results:There were statistically significant differences in PASP, AA/BSA, AP/BSA, AC, TV, RAVmax/BSA, RAVmin/BSA, RVFAC, RVGS, and TAPSE between the three groups (all P<0.05). There were statistically significant differences in LVEF, CPH, RVEDV/BSA, and RVESV/BSA in the moderate and above FTR group compared with the control and mild FTR groups (all P<0.05). Correlation analysis showed that RAVmin was the most highly correlated with tricuspid regurgitant volume ( r=0.875, P<0.001) and TV and end-systolic annulus area(ESAA) were highly correlated with tricuspid regurgitant volume ( r=0.747, 0.683; both P<0.001) in patients with FTR. Multifactorial linear regression showed that RAVmin, TV and regurgitant volume were independently positively correlated (β=0.721, 0.205; both P<0.05). Conclusions:The four quantification technique can provide valid structural and functional information by quantifying the tricuspid valve as well as the right heart in patients with FTR, and RAVmin and TV are independent correlates of increased tricuspid regurgitant volume.
8.Absolute bioavailability of salidroside in Beagle dog
Biao HUANG ; Xiaoju SHAN ; Xin ZHAO ; Yongbing CAO ; Tingting ZHOU ; Guorong FAN
Journal of Pharmaceutical Practice 2021;39(1):62-67
Objective To develop a HPLC-MS/MS method for the absolute bioavailability study of salidroside in Beagle dogs. Methods Gastrodin was used as internal standard. Plasma samples were treated by protein precipitation and separated by Symmetry RP18 column (100 mm×4.6 mm, 3.5 μm). 0.1% formic acid in water(A) and 0.1% formic acid in acetonitrile: methanol (20 : 80, V/V) (B) were used as the mobile phase for isocratic elution with 35% mobile phase B. The flow rate was 0.4 ml/min. Column temperature was 40 ℃. Injection volume was 2 μl. By electrospray ionization source (ESI) and multi-reaction monitoring (MRM) mode, the MRM ion pairs of salidroside and gastrodin were identified as m/z 299.1→118.9 and m/z 285.1→122.9, separately. Blood samples were collected at different time points after oral or intravenous administration of salidroside. The harvested plasma samples were analyzed by HPLC-MS/MS method to assess the pharmacokinetics and absolute bioavailability of salidroside. Results Excellent linearity(r>0.998 6) was found in the concentration range of 10−10 000 ng/ml for salidroside and the lowest quantitative concentration was 10 ng/ml. The recovery was 89.5%−91.8%. The intra-day precision (RSD) was less than 9.7%, and the inter-day precision (RSD) was less than 7.3%. After a single oral dose of 15 mg/kg or an intravenous injection of 1.5 mg/kg of salidroside, cmax was (9 680±3725) and (9 310±1 645) ng/ml; tmax was (1.25±0.67) and (0.011±0.017) h, AUC0−t was (20 535.4±5 200.0) and (4 646.7±720.5) ng·h/ml, AUC0−∞ was (20 607.9±5 266.2) and (4 691.6±715.2) ng·h/ml; t1/2 was (1.31±0.63) and (0.98±0.13) h, respectively. Conclusion The LC-MS/MS method established in this study was simple, rapid, sensitive and reliable. It meets the regulatory requirements of biological analysis for pharmacokinetic properties of salidroside in Beagle dogs. The absolute bioavailability of salidroside in Beagle dogs is (43.9±11.2)%.
9.Hospitalization Due to Asthma Exacerbation: A China Asthma Research Network (CARN) Retrospective Study in 29 Provinces Across Mainland China
Jiangtao LIN ; Bin XING ; Huaping TANG ; Lan YANG ; Yadong YUAN ; Yuhai GU ; Ping CHEN ; Xiaoju LIU ; Jie ZHANG ; Huiguo LIU ; Changzheng WANG ; Wei ZHOU ; Dejun SUN ; Yiqiang CHEN ; Zhuochang CHEN ; Mao HUANG ; Qichang LIN ; Chengping HU ; Xiaohong YANG ; Jianmin HUO ; Xianwei YE ; Xin ZHOU ; Ping JIANG ; Wei ZHANG ; Yijiang HUANG ; Luming DAI ; Rongyu LIU ; Shaoxi CAI ; Jianying XU ; Jianying ZHOU ;
Allergy, Asthma & Immunology Research 2020;12(3):485-495
PURPOSE: Details of patients hospitalized for asthma exacerbation in mainland China are lacking. To improve disease control and reduce economic burden, a large sample survey among this patient population is indispensable. This study aimed to investigate the clinical characteristics and outcomes of such patients.METHODS: A retrospective study was conducted on patients hospitalized for asthma exacerbation in 29 hospitals of 29 regions in mainland China during the period 2013 to 2014. Demographic features, pre-admission conditions, exacerbation details, and outcomes were summarized. Risk factors for exacerbation severity were analyzed.RESULTS: There were 3,240 asthmatic patients included in this study (57.7% females, 42.3% males). Only 28.0% used daily controller medications; 1,287 (39.7%) patients were not currently on inhaled corticosteroids. Acute upper airway infection was the most common trigger of exacerbation (42.3%). Patients with severe to life-threatening exacerbation tended to have a longer disease course, a smoking history, and had comorbidities such as hypertension, chronic obstructive pulmonary disease (COPD), and food allergy. The multivariate analysis showed that smoking history, comorbidities of hypertension, COPD, and food allergy were independent risk factors for more severe exacerbation. The number of patients hospitalized for asthma exacerbation varied with seasons, peaking in March and September. Eight patients died during the study period (mortality 0.25%).CONCLUSIONS: Despite enhanced education on asthma self-management in China during recent years, few patients were using daily controller medications before the onset of their exacerbation, indicating that more educational efforts and considerations are needed. The findings of this study may improve our understanding of hospital admission for asthma exacerbation in mainland China and provide evidence for decision-making.
Adrenal Cortex Hormones
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Asthma
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China
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Comorbidity
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Disease Progression
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Education
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Female
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Food Hypersensitivity
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Hospitalization
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Humans
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Hypertension
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Inpatients
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Medication Adherence
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Mortality
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Multivariate Analysis
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Pulmonary Disease, Chronic Obstructive
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Retrospective Studies
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Risk Factors
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Seasons
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Self Care
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Smoke
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Smoking
10.Emergency repair of Gustillo III C limb extremities with free Flow-through chimeric anterolateral thigh perforator flap
Yi ZHAN ; Jicun TANG ; Ruiying WANG ; Haijun LI ; Liming WANG ; Baoshan WANG ; Changzhao HUANG ; Xuewen XUE ; Xiaoju ZHENG
Chinese Journal of Microsurgery 2020;43(1):51-55
Objective:To explore the clinical effects of a single stage reconstruction and revascularization using a free Flow-through chimeric anterolateral thigh perforator (ALTP) flap in Gustillo III C limb injuries.Methods:From January, 2010 to December, 2017, 17 patients with Gustillo III C injury of extremities were repaired with Flow-through chimeric ALTP in emergency surgeries. The patients were 16 males and 1 female with mean age of 32.4 (19-55) years. The size of wounds ranged from 16 cm×8 cm-45 cm×30 cm. The injured arteries were Flow-through anastomosed with the descending branch of the lateral circumflex femoral artery to regain blood flow. The deep dead space was filled with vastus lateralis flap, and the skin flap and fascia flap were used for superficial covering. The donor site was closed directly in 6 patients, simultaneous skin grafts were applied in 11 patients.Results:The followed-up time ranged 5 to 60 (average 21.8) months, and conducted by clinic visits and by telephone or WeChat interviews. Fifteen flaps survived, and 2 flaps failed with limb amputated. Six patients were repaired with skin and fascia flaps and 11 patients received flaps comprising the skin, fascia and vastus lateralis muscle. Four flaps healed in stage I. Partial necrosis were observed in 11 flaps. Of which, 1 healed by change of dressing and 10 healed by skin grafting. No complications occurred in donor site in all patients.Conclusion:The Flow-through chimeric ALTP flap can be used in stage I reconstruction of the blood supply of limbs and meanwhile achieve the 3-D repair of defects. It is one of the reliable methods in the reconstruction of Gustillo III C injuries in the extremities.

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