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 ; China ; Surveys and Questionnaires ; Genetic Diseases, Inborn/genetics* ; Cross-Sectional Studies ; Genetics, Medical/education* ; Genetic Testing

Supracondylar humerus fractures represent the most prevalent type of upper limb fractures in pediatric patients. As a result of the interplay of external forces, muscular contractions, and periosteal reactions, these fractures are prone not only to axial displacement but also to rotational displacement in a certain degree. Rapid and accurate assessment of the rotational displacement holds a paramount importance for intraoperative realignment, choice of fixation modalities, and anticipation of postoperative function. Currently, methods to evaluate the rotational displacement involve X-ray, CT, and ultrasound, but the various assessment techniques and criteria often pose challenges in differentiation. This paper reviews the current diverse imaging modalities for assessment of the rotational displacement, aiming to translate the intricate three-dimensional spatial rotation into single-plane rotations within the coronal, sagittal, and horizontal planes, thereby aspiring to furnish those concerned with clinical guidance.

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.

Humans ; Vaccines, Inactivated ; COVID-19/prevention & control* ; Vaccination ; Viral Vaccines ; Immunity ; Antibodies, Viral

Humans ; Multiple Pulmonary Nodules ; Lung ; Lung Neoplasms/surgery* ; Solitary Pulmonary Nodule/surgery* ; Bronchoscopy

Objective:To investigate the safety and dose of 4D template (real-time adjustable angle template) in the treatment of advanced malignant tumors with 125I seeds. Methods:98 patients with advanced malignant tumors admitted to Department of Thoracic Surgery of Shaanxi Provincial Tumor Hospital were treated with 4D template-navigated radioactive 125I seed implantation from June 2018 to December 2019. Preoperative TPS plan, intraoperative optimization, postoperative verification of immediate dose and postoperative evaluation of implantation dose were performed. The treatment results were observed. Results:All 98 patients completed the seed implantation. The implantation dose of GTV of implantation site receiving external irradiation was (12 489±414) cGy and the dose of no external irradiation was (15 036±514) cGy. V 100% was 84.7%-94.1%, and 88.2%-93.7%. The implantation dose of CTV was (7 450±621) cGy, and (9 080±761) cGy. The quality of dose implantation was evaluated as: excellent in 89 cases (91%, 89/98), good in 7 cases (7%, 7/98), fair in 2 cases (2%, 2/98), and poor in 0 case, respectively. The symptom relief rate of patients with pain was 92%(36/39). The 1-and 2-year local control rates were 61%, 36% and 82%, 54% in patients treated with and without external irradiation, respectively. The difference was statistically significant ( P=0.02). The incidence rates of pneumothorax and hemoptysis were 19%(9/48) and 10%(5/48). No corresponding complications were observed in other parts of the patients. Conclusion:4D template-assisted 125I seed therapy is safe and effective for malignant tumors, and intraoperative adjustment of needle angle and dose optimization can realize the precise control of implantation dose.

Objective:To evaluate the performance, efficacy and safety of a novel portable endoscopy system for upper gastrointestinal examination.Methods:A multicentered, open-label, randomized, non-inferiority controlled study was conducted in 3 clinical research centers from June 2019 to June 2020, and a total of 90 outpatients admitted to Department of Gastroenterology were randomly assigned to the trial group ( n=44) undergoing portable endoscopy and the control group ( n=46) undergoing Olympus endoscopy. The examination success rate, image quality, performance, overall operation satisfaction rate, biopsy success rate and adverse events of the two groups were compared. Results:The examination success rates of the trial group and the control group were 97.73% (43/44) and 100.00% (46/46) respectively with a difference of -2.27% (95% CI: -6.68%-2.13%), higher than the set non-inferiority margin of -10%. Rates of good and excellent image quality were 100% in both groups, and the difference of 0 was higher than the set non-inferiority margin of -10%. There was no significant difference in the rate of good and excellent performance of the operating system between the two groups [97.67% (42/43) VS 100.00% (46/46), P=0.483]. There was significant difference in the overall satisfactory rate of the operation between the two groups [86.05% (37/43) VS 100.00% (46/46), P=0.011]. A total of 9 cases underwent endoscopic biopsy, including 5 cases in the trial group and 4 cases in the control group. The biopsy channels in both groups were smooth and the biopsy were successfully completed. There was no significant difference in adverse event rate between the two groups [25.00% (11/44) VS 10.87%(5/46), χ2=3.07, P=0.080]. All adverse events disappeared in 48 hours, and no severe adverse events or device defect events occurred. Conclusion:The novel portable endoscopic system is comparable to Olympus endoscopic system in terms of the operating performance, the image quality and safety. Therefore, this system is safe and effective for upper gastrointestinal examination.

Objective:To summarize and discuss the concept and clinical manifestations of complex fracture-dislocations of the elbow in children, and compare its injury characteristics, treatment and clinical effect with adults.Methods:From September 2015 to January 2020, 34 patients seen and treated at our institution for complex fracture-dislocations of the elbow were identified, and their medical records and radiographs were reviewed retrospectively. The inclusion criteria were elbow dislocation combined with one or more fractures at the proximal ulna and radius. There were 25 boys and 9 girls, with an average age of 8.3±3.2 years. The left arm was involved in 27 cases, and the right arm was involved in 7 cases. The causes of injury included falling from a scooter in 16 cases, falling from height in 10 cases, cycling in 5 cases and traffic accident in 3 cases. All patients were treated with closed reduction and the application of plaster under local anaesthesia in the emergency room. Then, X-ray, CT and MRI were performed to evaluate the fracture-dislocation and ligament injury. The following treatment plan was comprehensively evaluated according to the size and displacement of the combined fracture block and the stability of the elbow, for example, open reduction with K-wires and tension band or plate fixation for olecranon fracture, open reduction with loop plate fixation for coronal process fracture, closed reduction or open reduction with K-wires or elasticstable intramedullary nail for radial neck fracture.Results:Among the 34 patients, there were 16 cases of transolecranon fracture-dislocation, 1 case of varus posteromedial rotational instability, 4 cases of valgus posterolateral rotatory instability and 13 cases of divergent dislocation of elbow. All patients were followed up for 13(8, 15) months, and the average fracture healing time was 3.5±0.8 weeks, with no failure of internal fixation. In 2 cases of elbow dislocation combined radial neck fracture, one case had ischemic necrosis of the radial head and one case had early closure of epiphyseal plate of the proximal radius. At the last follow-up, all patients had no subluxation, dislocation or instability of the elbow. The therapeutic efficacy was evaluated at the final follow-up by the Mayo elbow performance score (MEPS) as excellent in 25 cases, good in 5 cases, fair in 3 cases, and poor in one case, with excellent and good rate 88%.Conclusion:The complex fracture-dislocations of the elbow is rare in children. We have the opinion that the clinical characteristics are dislocation combined with one or more fractures of the proximal ulna and radius. Compared with adults, its pathological characteristics and the scope of injury are similar, but most of the injuries are mild. The clinical manifestations are mainly transolecranon fracture-dislocation and divergent dislocation of elbow. Good results can be achieved in most cases through open reduction with internal fixation for fractures.

OBJECTIVE: To establish a micellar electrokinetic capillary chromatography-based method for identification and quantitative detection of interleukin-12 (IL-12) and analysis of its unfolding process. METHODS: An uncoated fused-silica capillary (inner diameter 50 μm) with a total length of 48.5 cm (40 cm to the detector) was used for the experiment. The factors influencing the separation efficiency of IL-12 were analyzed, and a standard curve of IL-12 concentration was established. The mixture of IL-12 and anti-IL-12 antibody was incubated in a water bath at 38 ℃ for 40 min, and capillary electrophoresis was then performed under the same conditions. The results were compared with those of IL-12 and anti-IL-12 antibody to identify IL-12. IL-12 and dithiothreitol (DTT) were incubated at 60 ℃ in water bath for different lengths of times, and the unfolding process of IL-12 was analyzed based on electrophoresis results of IL-12 in different states. RESULTS: A micellar capillary electrophoresis on-line sweep method was established with 80 mmol/L borate (pH=9.3) containing 30 mmol/L sodium dodecyl sulfate (SDS) as the buffer solution. This system showed a good linear relationship between the peak area and the mass concentration of IL-12 with a linear correlation coefficient of 0.9991 within the linear range of 2 to 120 ng/L. As the incubation time of IL-12 and DTT prolonged, the disulfide bond of IL-12 gradually opened and resulted in distinct changes in the protein peak. CONCLUSIONS This capillary electrophoresis-based method is simple and sensitive for IL-2 analysis and allows rapid detection of changes in IL-12 content in the setting of tumors and analysis of the possible causes.

Objective: To investigate the effect of early multi-dimensional cardiac rehabilitation (CR) nursing mode on patients after percutaneous coronary intervention (PCI). Methods: From August 2017 to July 2018, 100 patients with coronary heart disease (CHD) underwent PCI in the Department of Cardiology, the Third Affiliated Hospital of Sun Yat-sen University were selected as subjects. According to the random number table, the patients were divided into control group and observation group, 50 in each group. The control group received routine CR nursing intervention, and the observation group was given early multi-dimensional CR nursing mode for intervention. All patients were followed up for 6 months. The incidence of major cardiovascular adverse events (MACE) was observed 1 month and 6 months of follow-up. Patients with somatization were evaluated on the 2nd day after PCI and in the first month of follow-up using the Somatic Self-rating Scale (SSS). In the first month and the 6th month of follow-up, patient compliance was assessed using the 8-item Morisky Medication Adherence Scale (MMAS-8). Results: During the study period, 3 patients were detached from each group, and there were 47 patients in both groups who completed the study. The incidence of MACE in the control group in 1 month and 6 months was 8.51% (4/47) and 4.26% (2/47), respectively. The incidence of MACE in the observation group was 10.64% (5/47) and 4.26%, (2/47) respectively. There was no significant difference in the incidence of MACE between the two groups (χ² value was 0.123, 0.000, P>0.05). In the first month of follow-up, the SSS scores of the control group (34.32±6.59) and the observation group (31.04±7.04) were lower than those of the second day after surgery (37.21±6.19, 37.43±7.29), and the difference was statistically significant (t value was 4.633, 2.660, P<0.05). The SSS scores of the observation group were lower than those of the control group, and the difference was statistically significant (t value was 2.330, P<0.05). In the first month of follow-up, there was no significant difference in MMAS-8 score between the two groups (P>0.05). In the 6th month of follow-up, the MMAS-8 score (5.72±0.62) in the control group was lower than the first month of follow-up (6.93±0.54), and the difference was statistically significant (t value was 10.028, P<0.05). The MMAS-8 score of the control group was lower than that of the observation group (6.89±0.58), and the difference was statistically significant (t value was 9.490, P<0.05). There was no significant difference in MMAS-8 score between the observation group in the first month of follow-up and the sixth month of follow-up (P>0.05). Conclusion Early multi-dimensional CR nursing mode has a limited effect on improving the incidence of MACE in patients after PCI, but it can effectively reduce the somatization symptoms of patients and maintain good medication compliance.