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

ObjectiveThis paper aims to observe the syndrome improvement and negative antigen conversion rate of Qingxuan Daozhi formula in the treatment of influenza in children （heat accumulation in the lung and stomach syndrome）. MethodsThrough a multi-center randomized controlled methodology design，confirmed influenza cases were collected from October 2022 to April 2023 in the pediatrics department of eight hospitals，such as Dongfang Hospital of Beijing University of Chinese Medicine. A total of 180 children with influenza and heat accumulation in the lung and stomach syndrome conforming to the standard were recruited through the clinic. The sick children meeting the inclusion criteria were randomly divided into groups by a block-randomized method. The children in the experimental group were treated with Qingxuan Daozhi formula for five days，and those in the control group were treated with Oseltamivir Phosphate Granules for five days. The primary efficacy indicator was the negative conversion rate of influenza antigen detection. Secondary efficacy indicators were the Canadian acute respiratory illness and flu scale （CARIFS） and the incidence of complications，severe cases， and critical cases. Follow-up observation was conducted on the day of enrollment，48 hours after medication，72 hours after medication， and （6+1） d after medication. ResultsOne hundred and eighty participants were randomly assigned to the experimental group （90 cases） or the control group （90 cases）. All participants were followed up during the study. Comparison of influenza antigen detection results in the primary efficacy indicators showed that the average time of negative influenza antigen conversion in the experimental group was （5.29±1.25） d，and that in the control group was （5.40±1.68） d，without a statistically significant difference. After five days of intervention，52 cases in the experimental group and 51 cases in the control group converted to negative，without a statistically significant difference. CARIFS score results in the secondary efficacy indicators showed that during 72 hours after intervention，there were statistically significant differences between the experimental group and the control group in three dimensions， including headache，muscle soreness， and the need for extra care （P<0.05）. On the （6+1） days after the intervention，the differences in both the experimental group and the control group were statistically significant in 10 dimensions， including sore throat，bad sleep，uncomfortable feeling，poor spirit and fatigue，crying more than usual，the need for extra care，symptom，function，influence on parents，and total score （P<0.05）. The comparison results within the group in the dimensional scores of symptom， function， and influence on parents，as well as the CARIFS total score showed that with the delay of follow-up time，scores of both groups decreased significantly，with a statistically significant difference （P<0.01）. Inter-group comparison results showed that the mean score of the experimental group was higher than that of the control group at the time of enrollment. With the progress of intervention，the score of the experimental group was significantly decreased compared with that of the control group. At the end of follow-up，the mean score of the experimental group was lower than that of the control group，with no statistically significant difference. In terms of the incidence of complications，severe cases， and critical cases， there were no complications，severe cases， and critical cases in the two groups，without a statistically significant difference. ConclusionThe symptom improvement effect and negative antigen conversion rate of Qingxuan Daozhi formula in the treatment of influenza in children （heat accumulation in the lung and stomach syndrome） are not inferior to Oseltamivir Phosphate granules， and children's acceptance is better. It can be more widely used in clinical treatment of influenza in children （heat accumulation in the lung and stomach syndrome）.

OBJECTIVE To understand the current status of prevention and control of traditional Chinese medicine(TCM)diagnosis and treatment technique-related infections in various grades of hospitals in Jiangsu Province so as to provide bases for management departments to put forward the norms.METHODS The questionnaire was de-signed by the methods such as Delphic correspondence,the current status of prevalence,prevention and control of TCM diagnosis and treatment technique-related infections among the health care workers in the hospitals of Jiang-su Province was investigated by using convenience sampling method.RESULTS A total of 508 questionnaires were collected from 13 cities of Jiangsu Province.The results showed that the TCM treatment room(63.64％)was the most common operation site for minimally invasive TCM diagnosis and treatment techniques,the bedside(62.50％)of the patients was the major operation site for Chinese medicine enema,and the central sterile supply department(55.31％)was the preferred choice of cleaning and disinfection site for daily recycled TCM apparatu-ses.'One person used for once,airing and preparing for later use after cleaning and disinfection for once'was the major approach taken for the cleaning and disinfection of Gua Sha boards(82.45％)and TCM pots(87.50％).67.87％of the health care workers said that they wound cleaned and disinfected the medical apparatuses of dress-ing,ironing and fumigation every time after the use.The natural ventilation and ultraviolet light(50.39％)was the major method that was taken for the ventilation and disinfection of the treatment rooms for TCM operations.Quick-drying hand disinfectant and non-touch hand-washing equipment(39.37％)were the most commonly e-quipped hand hygiene facilities.CONCLUSIONS The prevention and control of TCM diagnosis and treatment tech-nique-related infections and the health care workers' capabilities for prevention and control of the infection have made remarkable progress in the various grades of hospitals in Jiangsu Province.However,there is still room for further improvement,and the standardized management and construction should be completed so as to safeguard the TCM diagnosis and treatment techniques.

Objectives:To investigate the impact of bone hyperplasia in the thoracolumbar spine caused by diffuse idiopathic skeletal hyperostosis(DISH)on the changes of spinopelvic sagittal parameters between stand-ing and sitting positions.Methods:A total of 61 DISH patients[DISH group,42 males and 19 females,50-76(65.1±6.3)years]who underwent surgical treatment for lumbar spinal stenosis in our hospital between Jan-uary 2019 and December 2023 were retrospectively analyzed.100 age-and sex-matched non-DISH patients undergone the same surgical procedure during the same period were included as control[N-DISH group,63 males and 37 females,54-77(67.5±7.2)years].According to the distribution of osteophytes,the patients in the DISH group with ectopic ossification limited to the thoracic spine were categorized into the T-DISH group,while those with involvement of both thoracic and lumbar spines were divided in the L-DISH group.Preoper-atively,full-spine anteroposterior and lateral X-rays were taken in both standing and sitting positions.All patients were measured for spinopelvic sagittal parameters in standing and sitting positions,including sagittal vertical axis(SVA),pelvic tilt(PT),sacral slope(SS),pelvic incidence(PI),thoracic kyphosis(TK),lumbar lordosis(LL),and proximal femoral angle(PFA).The differences in standing and sitting positions and changes between DISH and N-DISH groups,T-DISH and L-DISH groups were compared.Results:In the standing position,the SVA(P=0.008)and TK(P=0.028)in the DISH group were significantly higher than those in the N-DISH group,while no significant differences were observed in PI,PT,SS,LL,and PFA(P＞0.05).In the sitting position,the TK(P=0.003)and LL(P=0.007)in the DISH group were significantly higher than those in the N-DISH group,whereas no significant differences were noted inSVA,PT,PI,SS,and PFA(P＞0.05).When transitioning from standing to sitting,the changes in SVA(P=0.021),PT(P=0.008),SS(P=0.001),TK(P=0.002),and LL(P＜0.001)in DISH group of patients were significantly smaller than those in N-DISH group of patients.Among DISH patients,the L-DISH group had significantly lower PI(P=0.016),SS(P=0.011),and LL(P=0.006)in the standing position compared to the T-DISH group,while no significant differences were observed in SVA,PT,TK,and PFA(P＞0.05).In the sitting position,the PI(P=0.008)and SS(P=0.007)of the L-DISH group were significantly lower than those of the T-DISH group,while no significant differences were observed in SVA,PT,TK,LL,and PFA(P＞0.05).The changes in LL when transitioning from standing to sitting were significantly lower in the L-DISH group compared to the T-DISH group(P=0.033),while the changes of other sagittal parameters showed no significant difference(P＞0.05).Conclusions:Bone hyperplasia in DISH patients significantly limits spinal mobility,and the restriction is more pronounced in patients with osteophytes extending to the lumbar spine compared to those with isolated thoracic involvement.

Objective To evaluate the subchronic systemic toxicity of disposable plasma virus-inactivated blood transfusion sets using hydroxyethyl starch(HES)130/0.4 sodium chloride injection as an extraction medium.Methods Firstly,40 Sprague Dawley(SD)rats including 20 male and 20 female ones were seleted and randomly enrolled into a sample group and a control group by sex,with 20 ones in each group.Secondly,instead of plasma HES 130/0.4 sodium chloride injection was used to leach disposable plasma virus-inactivated blood transfusion sets to prepare the test solution by simulating clinical application such as lighting,adsorption and filtration and storage.Finally,the test solution and HES 130/0.4 sodium chloride injection were injected into the tail vein of the SD rats at a dose of 20 mL/kg for 28 d in the sample group and in the control group respectively,and the subchronic systemic toxicity of disposable plasma virus-inactivated blood transfusion sets and the feasibility of using HES 130/0.4 sodium chloride injection as the extraction medium to assess their subchronic systemic toxicity were evaluated with clinical observation,body mass monitoring,clinical pathology examination,gross necropsy and histopathology examination.Results The sample group and control group had no significant differences in mortality rates,clinical observation results,body mass,gross necropsy results,hematological and coagulation examination results and organ weight(all P>0.05);blood biochemical examinations showed the male rats in the sample group had the cholesterol(CHO)values higher while the creatinine(CR)values lower than those in the control group,with the differences being statistically significant(both P<0.05)and the two indexes within the range of the laboratory's historical reference data,and other blood biochemical indexes were not significantly different(all P>0.05);the sample group had the spleen weight-to-body mass ratios of the female rates lower significantly than those in the control group(P<0.05),and the ratios of other organ weight to body mass had significant differences(all P>0.05);histopathology examination showed slight pathological changes in liver,spleen and kidney of female rats and in spleen and kidney of male rats in the sample group,and the female and male rats in the control group had similar pathological changes found in the sample group,which might be caused by HES metabolites.Conclusion Disposable plasma virus-inactivated blood transfusion sets prove to have no significant subchronic systemic toxicity,and its feasible to use HES 130/0.4 sodium chloride injection as the extraction medium to evaluate the subchronic systemic toxicity of disposable plasma virus-inactivated blood transfusion sets.[Chinese Medical Equipment Journal,2025,46(10):29-35]

Objective:To investigate the influence of cytochrome P450 2A6 (CYP2A6) gene polymorphisms on liver function injury in patients with hyperthyroidism treated with methimazole.Methods:The study selected 90 patients with hyperthyroidism who were treated with methimazole in the Department of Thyroid Surgery at the First Affiliated Hospital of Zhengzhou University from Sept. 2023 to Aug. 2024 as the research subjects. Based on the occurrence of liver injury, they were divided into a liver injury group ( n=36) and a non-liver injury group (n=54). Peripheral blood DNA was extracted from the patients, and the CYP2A6 gene genotypes (rs8192725, rs8192720, and rs28399433) were detected using the polymerase chain reaction (PCR) amplification method. The association between CYP2A6 gene polymorphisms and liver injury induced by methimazole treatment in hyperthyroidism was analyzed. Results:The comparison of genotype distribution frequencies at the rs8192725 locus between the liver injury group and the non-liver injury group showed a statistically significant difference ( P<0.05). The AG and GG genotypes at the rs8192725 locus were protective factors against liver injury in patients with hyperthyroidism (AG vs. AA, OR: 0.21; 95% CI: 0.08-0.57; P<0.05; GG vs. AA, OR: 0.24; 95% CI: 0.06-0.89; P<0.05; AG+GG vs. AA, OR: 0.22; 95% CI: 0.09-0.54; P<0.05). The frequency of the G allele of rs8192725 in the liver injury group was significantly lower than that in the non-liver injury group (G vs. A, OR: 0.36; 95% CI: 0.19-0.70; P<0.05), indicating that it is a protective factor for liver injury in hyperthyroid patients receiving methimazole treatment. Conclusions:The CYP2A6 gene polymorphism at the rs8192725 locus is associated with the occurrence of liver injury in patients with hyperthyroidism treated with methimazole. The G allele may be a protective factor against liver injury in patients with hyperthyroidism, suggesting that individualized treatment plans can be developed based on the patient's genotype.

Objective To establish a stable,reliable,and clinically relevant porcine model of endotoxin-induced acute respiratory distress syndrome(ARDS).Methods Ten 8-month-old male Bama minipigs were deeply sedated,followed by invasive mechanical ventilation and electrocardiographic monitoring.Lipopolysaccharide(LPS)was intravenously pumped at 600 μg/(kg·h)for 3 hours,then maintained at 15 μg/(kg·h)thereafter.Dynamic monitoring was performed at five time points after LPS injection(LPS 0,1,3,5,and 8 h),including arterial blood gas analysis and chest computed tomography(CT)scans.Pathological examination of lung tissues obtained via bronchoscopic biopsy(HE staining and transmission electron microscopy)was conducted.These indicators were comprehensively used to evaluate the success of the animal model.Results At 5 hours after LPS administration,8 minipigs developed symptoms such as skin cyanosis,elevated body temperature,and respiratory distress.The oxygenation index decreased to<300 mmHg.Chest CT scans showed diffuse pulmonary infiltrates.Histopathology revealed alveolar edema and hyaline membrane formation.Transmission electron microscopy demonstrated disruption of pulmonary blood-air barrier,depletion of lamellar bodies in type Ⅱ pneumocytes,inflammatory cell infiltration,and exudation of plasma proteins and fibrin.Compared with LPS 0 h,at LPS 8 h,the oxygenation index and arterial blood pH were significantly decreased(P<0.001),while blood lactic acid and serum potassium were significantly increased(P<0.05);serum calcium and base excess were significantly decreased(P<0.05),and the lung injury score based on HE-stained lung sections was significantly increased(P<0.01).Conclusion The porcine ARDS model established by continuous LPS injection can dynamically simulate the pathophysiological characteristics and typical pathological manifestations of clinical septic ARDS,making it an effective tool to study the pathogenesis,prevention,and treatment strategies of septic ARDS.

Objective:To compare the efficacy and safety of SRS-Schwab grade 4 osteotomy and vertebral column resection (VCR) in the surgical correction of type II congenital kyphosis (CK).Methods:A retrospective review was conducted on clinical and radiographic data from patients with type II CK who underwent corrective surgery at Nanjing Drum Tower Hospital between June 2008 and December 2021. Patients were divided into two groups based on the osteotomy technique employed: the VCR group (21cases) and the SRS-Schwab grade 4 osteotomy group (19 cases). Clinical parameters, including operative duration, estimated blood loss (EBL), number of segmentation failure levels, number of fused segments, and the use of anterior support cages, were compared between groups. Radiographic parameters included the number of segmentation fusion and measurements of segmental kyphosis (SK) preoperatively, postoperatively, and at the final follow-up. The degree and rate of SK correction were also calculated and compared. Complications such as neurophysiological monitoring events, neurological injury, implant breakage, proximal junctional kyphosis/lordosis (PJK/PJL), sagittal translation (ST), and implant failure were recorded. Additionally, SRS-22 questionnaire scores were assessed preoperatively, postoperatively, and at the latest follow-up.Results:A total of 40 patients were included, with a mean follow-up duration of 48.96±21.31 months (range, 24-96 months). Compared to the SRS-Schwab group, the VCR group had significantly more levels of segmentation defect (3.85±0.79 vs. 2.68±0.54), required more fused segments (8.00±2.23 vs. 5.47±2.04), had longer operative time (358.71±77.06 min vs. 212.52±77.05 min), and greater EBL (963.66±278.49 ml vs. 698.94±222.20 ml), all with statistically significant differences ( P<0.05). No significant differences were observed in local kyphotic angle, correction magnitude, or correction rate between groups postoperatively (P>0.05). Among patients with ≤48 months of follow-up, the SRS-Schwab group showed significantly lower SK (13.00°±16.28° vs. 34.00°±21.37°) and a higher correction rate (82.52%±21.40% vs. 52.84%±24.67%) at final follow-up ( P<0.05). However, no significant differences were observed in patients with >48 months of follow-up ( P>0.05), or in the overall cohort regardless of follow-up duration ( P>0.05). Complication rates were comparable between groups ( P>0.05). One neurophysiological monitoring event, 1 neurological injury, 3 cases of PJK, 1 case of PJL, 2 cases of ST, and 2 implant failures were observed in VCR group. The SRS-Schwab Grade 4 osteotomy group had 1 neurophysiological monitoring event, 1 neurological injury, 4 cases of PJK, 2 cases of ST, and 1 implant failure. The complication rates between the groups were not statistically different ( P>0.05). Both groups showed significant improvements in the self-image domain of the SRS-22 postoperatively and at the final follow-up ( P<0.05). In the function domain, both groups also demonstrated significant improvement at the final follow-up ( P<0.05), while the SRS-Schwab group showed earlier improvement at 3 months postoperatively ( P<0.05). Conclusions:SRS-Schwab grade 4 osteotomy provides comparable correction of segmental kyphosis to VCR but offers the advantages of significantly reduced blood loss and shorter operative time. Both surgical techniques effectively improve patients' quality of life.

Objective:To analyze the selection of internal fixation methods, surgical outcomes, and complications in patients with Neurofibromatosis Type 1 (NF1) accompanied by dystrophic lumbosacral deformities, and to evaluate the indications for pelvic fixation.Methods:A retrospective analysis was conducted on 21 patients with NF1 and associated dystrophic lumbosacral malformations (L 4 to sacrum) who underwent spinal deformity correction surgery at Nanjing Drum Tower Hospital from January 2009 to November 2022. The cohort included 11 males and 10 females, with a mean surgical age of 15.4±4.7 years (range, 7-24 years). Patients were divided into two groups based on whether pelvic fixation was performed: 10 patients in the non-pelvic fixation group (NP group) and 11 in the pelvic fixation group (P group), where fixation involved second sacral alar-iliac (S 2AI) screws or iliac screws. Radiographic parameters, including the Cobb angle of the lumbosacral fractional curve, main curve, and focal kyphosis, were compared preoperatively, postoperatively, and at the last follow-up. Results:The NP group had a significantly lower mean age (13.2±4.9 years) compared to the P group (17.5±3.5 years; t=2.287, P=0.034). Spinal instability (rotational subluxation or spondylolisthesis) due to dystrophic changes was observed in 2 patients in the NP group and 8 in the P group, a statistically significant difference (χ 2=5.838, P=0.030). In the P group, five patients underwent unilateral fixation and six underwent bilateral fixation. Implant types included 2 cases with iliac screws, 1 case with iliac screws plus S 2AI, and 8 cases with S 2AI screws alone. The utilization rate of hooks was significantly higher in the NP group (12.6%±11.5%) compared to the P group (3.5%±6.9%; t=2.230, P=0.038). The preoperative Cobb angle of the lumbosacral fractional curve was significantly smaller in the NP group (13.8°±9.0°) than in the P group (25.5°±13.9°; t=2.228, P=0.039). Postoperatively, the angles were corrected to 6.3°±6.1° and 6.4°±5.3°, respectively ( t=0.901, P=0.969), with correction rates of 57.3%±13.6% and 74.1%±17.8% ( t=2.369, P=0.029). At final follow-up, the angles remained stable (6.6°±6.6° vs. 6.3°±4.8°; t=0.116, P=0.909). For the main curve, preoperative Cobb angles were 52.5°±15.1° (NP) and 61.1°±16.9° (P; t=1.200, P=0.246), corrected to 31.3°±13.8° and 28.0°±8.4°, respectively ( t=0.646, P=0.526). Correction rates were 41.3%±13.0% in the NP group and 53.2%±11.6% in the P group ( t=2.206, P=0.037). At the final follow-up, these values were 32.4°±14.2° and 31.7°±10.3° ( t=0.133, P=0.896). Focal kyphosis, seen in 9 patients, was corrected from 19.7°±10.9° preoperatively to -13.6°±9.5° postoperatively, and remained at -14.1°±9.6° at the final follow-up ( F=33.547, P<0.001). Multi-rod systems were used in 6 cases (NP group) and 7 cases (P group), with no significant difference (χ 2=0.153, P=0.926). Two patients in the NP group developed coronal decompensation three years postoperatively, and one required revision surgery. In the P group, rod breakage occurred in 3 patients, two of whom underwent revision. Conclusions:Dystrophic rotational subluxation or spondylolisthesis of the lumbosacral spine is a primary indication for pelvic fixation in patients with NF1-associated deformities. However, complications related to internal fixation remain common. The combined use of a multi-rod screw-hook hybrid system, particularly when extending across the lumbosacral region, may reduce the risk of instrumentation failure.

Objective To compare the short-term outcomes and long-term prognosis between laparoscopic and open surgery for large gastric gastrointestinal stromal tumors(GISTs).Methods A retrospective cohort study was conducted on 110 patients with large gastric GISTs who underwent surgical treatment in the medical department of general surgery,Chinese People's Liberation Army General Hospital,from January 2015 to December 2020.Among them,47 were males(42.73%)and 63 were females(57.28%),with a median age of 55 years.Patients were divided into the open surgery group(n=57)and the laparoscopic surgery group(n=53)based on the surgical approach.Pro-pensity score matching(PSM)was performed using a 1∶1 nearest-neighbor matching method,resulting in 34 patients in each group after matching.Short-term outcomes and long-term prognosis were compared between the two groups.Results After matching,the laparoscop-ic surgery group showed significantly better outcomes than the open surgery group in terms of drainage tube removal time,operative time,intraoperative blood loss,and postoperative hospital stay(all P<0.05).No significant differences were observed in nasogastric tube removal time,time to first flatus,or time to resuming oral intake(all P>0.05).The open surgery group had lower hospitalization cost compared to the laparoscopic surgery group(P<0.05).Regarding long-term survival,the 1-,3-,and 5-year disease-free survival(DFS)rates in the lapa-roscopic surgery group were 100%,88.1%,and 88.1%,respectively,while those in the open surgery group were 100%,94.1%,and 94.1%.The 1-,3-,and 5-year overall survival(OS)rates in the laparoscopic surgery group were 100%,100%,and 88.8%,respectively,compared to 100%,97.1%,and 94.7%in the open surgery group.No statistically significant differences were found in DFS and OS between the two groups(both P>0.05).Conclusions Laparoscopic resection of large gastric GISTs is safe and feasible,without increasing the risk of tumor recurrence,and achieves comparable efficacy to open surgery.However,its application should still be approached with caution.