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

Rolling manipulation is one of the swing techniques with strong operational skills in massage therapy. This article summarized the biomechanical parameters and mechanism of the massage operation from multiple perspectives, including three-dimensional motion, force trajectory, dynamic parameters, force effect relationship, and mechanism. It is found that the massage operation could exert force in the vertical and horizontal directions of the body surface, and the movement trajectories of the front and back were generally symmetrical. The anterior force was approximately three times the retraction force, and the brachioradialis, pectoralis major, triceps, and deltoids were the main muscles that could exert force during manual manipulation. The method can have effects on hemodynamics, cellular anti-inflammatory effects, and improve the physiological function of tissues and organs. However, there is currently a lack of objective and unified norms and standards for the specific strength, frequency, and specific parameter combinations of massage methods, so the further improvement is still needed.

Objective:To explore the efficacy and safety of the combination therapy of lenalidomide and rituximab (R2) for short-cycle maintenance therapy in patients with B-cell non-Hodgkin lymphoma (B-NHL).Methods:A retrospective case series study was conducted. The clinical data of 19 B-NHL patients who received R2 regimen maintenance therapy after achieving complete remission through chemotherapy or autologous hematopoietic stem cell transplantation at Dongguan Kanghua Hospital from February 2018 to January 2024 were collected, and the overall survival (OS), progression-free survival (PFS), adverse reactions, changes in lymphocyte subsets and cytokine levels before and after treatment were analyzed.Results:Among the 19 patients, there were 7 males and 12 females, with a median age [ M ( Q1, Q3)] of 49 (45, 65) years. The median follow-up time was 56 months, ranging from 5 to 77 months. The 1-year OS and PFS rates were 89.2% and 88.9%, respectively. The 2-year and 5-year PFS rates were both 83.2%, and the 2-year and 5-year OS rates were both 88.9%. Common adverse reactions included hematological adverse reactions and infections, with 4 cases (21.1%) experiencing grade 3-4 hematological adverse reactions and 4 cases (21.1%) experiencing infections. There was no statistically significant difference in the levels of lymphocyte subsets (total T cells, helper T cells, regulatory T cells, NK cells, B cells, and CD4/CD8) and cytokines [interleukin (IL)-2, IL-4, IL-6, IL-10, tumor necrosis factor-α, and interferon-γ] before and after treatment (all P > 0.05). Conclusions:The R2 regimen for short-cycle maintenance therapy of B-NHL is effective and well tolerated by patients.

Objective:To explore the efficacy and safety of the combination therapy of lenalidomide and rituximab (R2) for short-cycle maintenance therapy in patients with B-cell non-Hodgkin lymphoma (B-NHL).Methods:A retrospective case series study was conducted. The clinical data of 19 B-NHL patients who received R2 regimen maintenance therapy after achieving complete remission through chemotherapy or autologous hematopoietic stem cell transplantation at Dongguan Kanghua Hospital from February 2018 to January 2024 were collected, and the overall survival (OS), progression-free survival (PFS), adverse reactions, changes in lymphocyte subsets and cytokine levels before and after treatment were analyzed.Results:Among the 19 patients, there were 7 males and 12 females, with a median age [ M ( Q1, Q3)] of 49 (45, 65) years. The median follow-up time was 56 months, ranging from 5 to 77 months. The 1-year OS and PFS rates were 89.2% and 88.9%, respectively. The 2-year and 5-year PFS rates were both 83.2%, and the 2-year and 5-year OS rates were both 88.9%. Common adverse reactions included hematological adverse reactions and infections, with 4 cases (21.1%) experiencing grade 3-4 hematological adverse reactions and 4 cases (21.1%) experiencing infections. There was no statistically significant difference in the levels of lymphocyte subsets (total T cells, helper T cells, regulatory T cells, NK cells, B cells, and CD4/CD8) and cytokines [interleukin (IL)-2, IL-4, IL-6, IL-10, tumor necrosis factor-α, and interferon-γ] before and after treatment (all P > 0.05). Conclusions:The R2 regimen for short-cycle maintenance therapy of B-NHL is effective and well tolerated by patients.

Objective: To explore the neural processing differences in inhibitory control and cognitive flexibility associated with motor development levels in preschool children, so as to provide a basis for motor learning and cognitive development in preschool children. Methods: From March 20 to 31 in 2023, a total of 84 preschool children aged 4-6 were recruited from two kindergartens in Xi an City. The MOBAK-KG Motor Development Assessment Scale was used to assess the children s motor development levels. The Go/no go task paradigm was employed to test inhibitory control ability, and the Dimensional Change Card Sort (DCCS) task paradigm was utilized to evaluate cognitive flexibility. Functional near infrared spectroscopy (fNIRS) was used to monitor the preschool children s prefrontal cortex oxygenation dynamics during inhibitory control and cognitive flexibility tasks. Malab software and Homer 2 plugins were used to calculate prefrontal oxygenated hemoglobin concentration of preschool children during the tasks. Results: The high motor skills group exhibited significantly higher task accuracy during inhibitory control and cognitive flexibility tasks [0.95(0.92, 0.97),(0.54±0.12)] compared to the low motor skill group[0.93(0.85, 0.97),(0.45±0.13)] ( Z/t =-2.09, 3.14 , P <0.05). During the inhibitory control task, the high motor skill group [0.24(0.10,0.41), 0.34(0.16,0.62), 0.30(0.07, 0.52 ), 0.26(0.09, 0.53), 0.15(0.01, 0.43), 0.34(0.10, 0.67)mol/L] showed significantly higher oxygenated hemoglobin concentrations in the left and right dorsolateral prefrontal cortices (L-DLPFC, R-DLPFC), left and right pars triangular Broca s areas ( L- PTBA, R-PTBA), and left and right frontopolar areas (L-FPA, R-FPA) compared to the low motor skill group [0.04( -0.13 , 0.15), 0.00(-0.12, 0.11), -0.01(-0.17, 0.14), 0.04(-0.14, 0.16), -0.01(-0.16, 0.12), -0.03(-0.21, 0.15) mol/L ] ( Z=-4.83, -5.57, -4.77, -4.10, -3.45, -5.74, P ＜0.01). During the cognitive flexibility task, the high motor skill group[0.21(0.03, 0.36), 0.28(0.15, 0.45), 0.15(0.05, 0.30), 0.20(0.05, 0.37), 0.04(-0.17, 0.26), 0.14(-0.08, 0.40) mol/L ] exhibited significantly higher oxygenated hemoglobin concentrations in the L-DLPFC, R-DLPFC, L-PTBA, R-PTBA, L- FPA, R-FPA brain regions compared to the low motor skill group [0.02(-0.20, 0.23), 0.02(-0.12, 0.21), 0.00(-0.22, 0.16 ), 0.00(-0.16, 0.15), -0.05(-0.25, 0.06), 0.01(-0.23, 0.20)mol/L] ( Z=-3.63, -4.45, -3.58, -3.75, -2.18, -1.98 , P ＜0.05). Conclusions The motor development level in preschool children is closely related to inhibitory control and cognitive flexibility. It is crucial to emphasize motor learning in early childhood to further promote holistic development of both mind and body.

Berberine is a commonly used traditional Chinese medicine,which has the antimicrobial and anti-inflammatory properties.Ongoing investigations have identified berberine as an effective medicine for systemic diseases,such as cardiovascular diseases,diabe-tes mellitus and neurological disorders.At the same time,there exists a close relationship between oral microbiota and these systemic diseases.This review focuses on the relationship between berberine,oral microbiota and systemic diseases,offering new insights for the treatment of systemic diseases.

Objective To investigate the affecting factors of postoperative restenosis in patients with Trans Atlantic Inter-Society Consensus-Ⅱ(TASC-Ⅱ)type C or D atherosclerosis obliterans(ASO)treated with endovascular intervention.Methods Eighty-one patients who underwent endovascular interventional treatment for ASO were included and were followed up continuously for two years after the procedure.Also,the pre-and post-treatment data of the restenosis group and the nonstenosis group were compared and statistically analyzed to clarify the affecting factors of restenosis as well as the value of the related factors in predicting the postoperative restenosis in the preoperative period.Results The incidence of restenosis in 81 patients was 40.74％within two years after the interventional treatment.The unifactorial results showed that the comparison of ankle brachial index(ABI),age,gender,smoking history,body mass index(BMI),procedure,number of stent placement,lesion length,hyperlipidemia,coronary heart disease,diabetes mellitus,and hypertension between the two groups was not statistically significant(P＞0.05);the comparison of blood biochemical indexes in the levels of hypersensitive C-reactive protein(hs-CRP),fibrinogen,neutrophil-lymphocyte ratio(NLR),homocysteine(Hcy),and cystatin C(Cys C)showed a difference of statistically significant(P＜0.05);binary logistic regression results for fibrinogen level,hs-CRP,NLR,Hey,and Cys C were all independent risk factors for postoperative restenosis[odds ratio(OR)=40.501,4.507,4.381,1.509,and 23.094,P＜0.05].The results of receiver operating characteristic(ROC)curves showed that hs-CRP,NLR,and Cys C could effectively predict ASO postoperative restenosis,with area under the curve(AUC)of 0.683,0.637,and 0.632,and cutoff values of 4.225,3.465,and 1.000,respectively(P＜0.05).Conclusion Post-interventional vascular restenosis in ASO patients is correlated with the levels of fibrinogen,hs-CRP,NLR,Hcy,and Cys C.Also,hs-CRP,NLR,and Cys C may be used as blood biochemical indexes to predict post-interventional vascular restenosis in ASO patients.

Objective To optimize the wine steamed Radix Rehmanniae processing technology.Methods The single factor experiment method was used to investigate the wine steamed Rehmannia glutinosa.Ultra-performance liquid chromatography-triple quadrupole tandem mass spectrometry(UPLC-QqQ-MS/MS)was used to determine the content of active ingredients such as stachyose tetrahydrate,manninotriose,melibiose,fructose,echinacoside,rhmannioside C,rhmannioside D,verbascoside,verbascoside,melittoside,monomelittoside,D(+)-raffinose pentahydrate,8-epicarnolic acid,catalpol,dihydrocatalpol,ajugol and so on.Through analytic hierarchy process and criteria importance through inter-criteria correlation(AHP-CRITIC),the content of the above chemical components and the color and sweetness values of rehmannia decoction pieces were used as evaluation indexes,and the amount of wine,steaming time and stuffiness time of steamed Rehmannia were investigated by a single-factor test method.The Box-Behnken response surface method was used to carry out the experimental design,and the divine Rehmannia processing process optimized.Results The optimal processing technology of wine steamed Radix Rehmanniae was as followed:20.6 g of alcohol per 100 g of herbs,1.5 h of stuffiness,and 6.5 h of steaming time.Conclusion The process of wine steamed rehmannia determined in this experiment is feasible,which can provide a reference for the research of processed rehmannia and provide certain guiding significance for the processed variety in industrial production.

Objective:To evaluate the diagnostic efficiency of hypersensitivity quantitative fecal immunochemical test (hs-qFIT) in colorectal cancer (CRC) and advanced adenoma.Methods:From July to December 2020, consecutive patients aged 50 to 75 years who underwent colonoscopy in Qilu Hospital of Shandong University, and had the Asia-Pacific colorectal screening score of medium or high risk were enrolled. All patients were requested to complete two hs-qFIT before colonoscopy. The diagnostic efficacy of hs-qFIT for CRC and advanced adenoma were assessed. Receiver operating characteristic curve of hs-qFIT in CRC diagnosis was drawn and the area under the curve (AUC) was calculated.Results:A total of 811 patients including 20 (2.5%) cases of CRC, 47 (5.8%) cases of advanced adenoma, 206 (25.4%) cases of non-advanced adenoma, 219 (27.0%) cases of non-adenomatous polyp, 76 (9.4%) cases of other colorectal lesions and 243 (30.0%) cases of non-colorectal lesions were involved. When the fecal hemoglobin cut-off values were 10, 30, 50, 75 and 100 ng/mL, the positive rates of hs-qFIT detection were 17.9% (145/811), 10.9% (88/811), 8.3% (67/811), 7.4% (60/811) and 5.8% (47/811), respectively. When the cut-off value of fecal hemoglobin decreased from 100 ng/mL to 10 ng/mL, the sensitivity of hs-qFIT for CRC diagnosis increased from 90.0% to 100.0%, and the specificity decreased from 96.3% to 84.2%; and the sensitivity of hs-qFIT for the diagnosis of advanced adenoma increased from 19.1% to 66.0%, and the specificity decreased from 95.0% to 85.1%. The AUC of hs-qFIT for the diagnosis of CRC and advanced adenoma were 0.981 (95% confidence interval ( CI) 0.970 to 0.992) and 0.846 (95% CI 0.807 to 0.886), respectively. When the optimal cut-off values were taken, the sensitivity and specificity were 100.0% and 91.2% for the diagnosis of CRC, and 66.0% and 85.3% for the diagnosis of advanced adenoma, respectively. Conclusion:Hs-qFIT can help the early screening of CRC and advanced adenoma.

Dasatinib is a highly effective second-generation tyrosine kinase inhibitor used to treat chronic myeloid leukemia (CML). In 2007, a pivotal phase-2 study of dasatinib as second-line treatment was initiated in 140 Chinese CML patients. This report from the 4-year follow-up revealed that 73% of 59 patients in chronic phase (CML-CP) and 32% of 25 patients in accelerated phase (CML-AP) remained under treatment. The initial dosage of dasatinib for CML-CP and CML-AP patients were 100 mg once daily and 70 mg twice daily (total = 140 mg/ day), respectively. The cumulative major cytogenetic response (MCyR) rate among patients with CML-CP was 66.1% (versus 50.8% at 18 months), and the median time to MCyR was 12.7 weeks. All CML-CP patients who achieved MCyR after a 4-year follow-up also achieved a complete cytogenetic response. The cumulative complete hematological response (CHR) rate among patients with CML-AP was 64% (16/25), with three CML-AP patients achieving CHR between 18 months and 4 years of follow-up; the median time to CHR was 16.4 weeks. The adverse event (AE) profile of dasatinib at 4 years was similar to that at 6 and 18 months. The most frequently reported AEs (any grade) included pleural effusion, headache, and myelosuppression. These long-term follow-up data continue to support dasatinib as a second-line treatment for Chinese patients with CML.