The construction of a training system for visiting physicians in the department of rare diseases in China is an important measure to improve the overall diagnosis and treatment capacity for rare diseases and address the critical challenge of insufficient knowledge and skills among clinicians in practice. This article systematically describes the visiting physician training system established by the Department of Rare Diseases at Peking Union Medical College Hospital. It summarizes the training objectives and positioning, design logic, and learning modules of the system, aiming to provide a reference for the construction of the specialized talent team for rare diseases in China.

Gorham-Stout disease(GSD) is a rare osteolytic disorder characterized by spontaneous and progressive osteolysis, along with abnormal angiogenesis and lymphangiogenesis, with no new bone formation. We present a case of a 15-year-old female admitted due to " recurrent right leg pain for 5 years, 11 months after undergoing right femoral fracture surgery". Through comprehensive integration of the patient's clinical phenotype, laboratory tests, imaging findings, pathological examinations, and molecular biological test results, GSD was considered highly likely. A multidisciplinary treatment approach was conducted, including a combination of zoledronic acid and sirolimus to inhibit osteolysis, along with rehabilitation training and orthopedic intervention, providing a personalized and comprehensive treatment strategy.

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations. Here we report a young male patient with TSC involving multiple organs, caused by a heterozygous frameshift mutation in TSC2 (c.2071delC, p.Arg691Alafs^*7). The patient initially presented with classic facial angiofibromas and hypomelanotic macules, and subsequently developed psychiatric and behavioral disturbances with auditory hallucinations. Neuroimaging revealed an intracranial mass lesion, which was confirmed as a subependymal giant cell astrocytoma on postoperative histopathology following surgery performed at an outside institution. After admission, the patient underwent a comprehensive diagnostic workup, and multidisciplinary treatment evaluation revealed extensive multisystem involve-ment, including the nervous system, skin, kidneys, lungs, heart, eyes, pancreas, liver and bones. Combined with relevant literature, this article discusses the molecular mechanisms, clinical phenotypes, and comprehensive management of TSC, in order to provide a reference for the standardized and individualized management of this disease.

OBJECTIVE To observe the clinical efficacy of mycophenolate mofetil （MMF） combined with Budesonide enteric capsules in the treatment of high-risk progressive immunoglobulin A nephropathy （IgAN）. METHODS A total of 150 adult patients with high-risk progressive IgAN who attended the Department of Nephrology， Chongqing University Three Gorges Hospital， between August 1， 2024 and March 1， 2025 were enrolled in this study. The control group （ n ＝94） received MMF combined with glucocorticoid， while the observation group （ n ＝56） received MMF combined with Budesonide enteric capsules. The 24-hour urine protein （24 h UP）， estimated glomerular filtration rate （eGFR）， and albumin （ALB） levels of patients in both groups were compared at 1， 2， 3， and 6 months post-treatment. The complete response （CR） rate and overall response rate were calculated for both groups at 1， 2， 3， and 6 months post-treatment. Adverse reactions occurring during treatment were compared between the two groups. RESULTS Compared with before treatment， 24 h UP decreased significantly in both groups at different time points after treatment （ P ＜0.05）， and ALB increased significantly （ P ＜0.05）. However， there was no significant change in eGFR （ P ＞0.05）. The 24 h UP in the observation group at 1， 2， and 3 months after treatment was significantly lower than that of the control group （ P ＜0.05）， while the ALB level was significan tly higher （ P ＜0.05）. However， at 6 months after treatment， there was no statistically significant difference in these two indicators between the two groups （ P ＞0.05）. There was no statistically significant difference in eGFR between the two groups at different time points after treatment （ P ＞0.05）. The overall response rates in the observation group at 1 and 2 months after treatment were significantly higher than those in the control group （ P ＜0.05）. There was no statistically significant difference in the overall response rate at the remaining treatment time points and the CR rate at all time points between the two groups （ P ＞0.05）. Patients in the observation group had significantly lower rates of skin abnormalities， elevated blood glucose， and overall adverse reactions compared with the control group （ P ＜0.05）. CONCLUSIONS Compared with MMF combined with glucocorticoids， MMF combined with Budesonide enteric capsules for the treatment of high-risk progressive IgAN patients can reduce proteinuria and improve serum ALB levels more quickly， significantly increase the early overall response rate， and significantly reduce glucocorticoid-related skin adverse reactions， blood glucose elevation， and the overall incidence of adverse reactions， demonstrating a better short-term benefits.

Objective To discuss the application value of CT and DSA multimodal image fusion technology in endovascular interventional therapy for arterial occlusive lesions of lower extremities and to evaluate its efficacy and safety so as to provide a scientific basis for clinical decision-making.Methods A total of 283 lower limbs with arterial complete occlusive lesions,who received treatment at Affiliated Baiyun Hospital of Guizhou Medical University hospital from January 2020 to December 2023,were selected for this study.The 283 diseased lower limbs were randomly divided into study group(n=142)and control group(n=141).In the study group the endovascular interventional therapy assisted by CT and DSA multimodal image fusion technology was adopted,while in the control group the traditional DSA-guided endovascular interventional therapy was employed.The imaging parameters,surgical success rates,X-ray exposure doses,time spent for operation,incidence of postoperative complications,changes of ankle-brachial index(ABI),primary patency rate,assisted primary patency rate,and secondary patency rate were compared between the two groups.Results The surgical success rate in the study group was 96.47％,which was significantly higher than 87.94％in the control group(P＜0.05).The mean time spent for operation in the study group was(125.42±23.74)minutes,which was shorter than(147.81±29.33)minutes in the control group.The mean X-ray exposure dose in the study group was(2 856.34±427.82)mGy·cm2,which was lower than(3 674.53±512.60)mGy·cm2 in the control group.The incidence of postoperative complications in the study group was 4.23％,which was significantly lower than 12.57％in the control group(P＜0.05).The ABI values of the affected limbs in the study group and control group increased from preoperative(0.65±0.15)and(0.60±0.18)respectively to postoperative(1.09±0.32)and(0.90±0.28)respectively.The postoperative ABI value in the study group was higher than that in the control group(P＜0.05).The postoperative 12-month primary patency rate,assisted primary patency rate and secondary patency rate in the study group were 78.17％,85.92％and 90.14％respectively,which were better than 67.38％,75.89％and 80.85％respectively in the control group.Conclusion For arterial occlusive lesions of lower extremities,endovascular interventional therapy with the help of CT and DSA multimodal image fusion technology has high surgical success rates,low incidence of complications,and satisfactory revascularization rate.This technology provides new idea and method for the treatment of arterial occlusive lesions of lower extremities with high clinical safety.Therefore,this technology is worthy of clinical promotion and application.

AIM:To explore the effect and mecha-nism of ethanol extract of Angelica sinensis(Oliv.)Diels(EEA)on cell proliferation and apoptosis in B16-F10 melanoma cells.METHODS:Cell viability was analyzed by MTT method.Cell proliferation was detected by colony formation assay.The invert-ed microscope was used to observe the changes of cell growth confluence and morphology.Hoechst 33342 staining was used to detect cell apoptosis.Flow cytometry(FCM)was used to detect cell cycle and apoptosis.Transmission electron microscopy(TEM)was used to observe the changes of cell mi-tochondrial structure.Western blot was used to de-tect the expression levels of cell cycle,apoptosis,mitochondrial biogenesis,and mitochondrial dy-namics-related proteins.RESULTS:Compared with the blank control group,the cell viability of B16-F10 melanoma cells was reduced after EEA(10-400μg/mL)treatment for 24 h and 48 h,respectively(P＜0.05,P＜0.01).The decreased cell growth conflu-ence,morphological changes such as shrinkage,rounding,and reduction in the volume,and apop-totic morphologic changes such as chromatin con-densation were observed after EEA(100 μg/mL and 200 μg/mL)treatment for 24 h.The number of cell clones was decreased after EEA(10-200 μg/mL)treatment for 14 d(P＜0.01).The morphology of mitochondria became more round and shorter,and the inner mitochondrial matrices were either damaged or absent after 200 μg/mL EEA treatment for 24 h.The ratio of cells in G0/G1 phase and the early apoptosis rate of cells were higher than those of the blank control group(P＜0.01)after EEA(20-200 μg/mL)treatment for 24 h.Western blot re-sults showed that compared with the blank control group,the protein expression levels of cleaved cas-pase-9,Bax,DRP1,and FIS1 were up-regulated(P＜0.05,P＜0.01),and the protein expression levels of cyclin D1,cyclin E,CDK2,CDK4,Bcl-2,Bad,Bcl-XL,SIRT1,PGC-1α,NRF1,TFAM,MFN2,and OPA1 were down-regulated(P＜0.05,P＜0.01).CONCLUSION:EEA has an inhibitory effect on the proliferation of B16-F10 melanoma cells,which may be related to the induction of G1/S cell cycle arrest and mito-chondrial apoptotic pathway,and the disruption of mitochondrial biogenesis and mitochondrial dy-namics.

AIM:To explore the effect and mecha-nism of ethanol extract of Angelica sinensis(Oliv.)Diels(EEA)on cell proliferation and apoptosis in B16-F10 melanoma cells.METHODS:Cell viability was analyzed by MTT method.Cell proliferation was detected by colony formation assay.The invert-ed microscope was used to observe the changes of cell growth confluence and morphology.Hoechst 33342 staining was used to detect cell apoptosis.Flow cytometry(FCM)was used to detect cell cycle and apoptosis.Transmission electron microscopy(TEM)was used to observe the changes of cell mi-tochondrial structure.Western blot was used to de-tect the expression levels of cell cycle,apoptosis,mitochondrial biogenesis,and mitochondrial dy-namics-related proteins.RESULTS:Compared with the blank control group,the cell viability of B16-F10 melanoma cells was reduced after EEA(10-400μg/mL)treatment for 24 h and 48 h,respectively(P＜0.05,P＜0.01).The decreased cell growth conflu-ence,morphological changes such as shrinkage,rounding,and reduction in the volume,and apop-totic morphologic changes such as chromatin con-densation were observed after EEA(100 μg/mL and 200 μg/mL)treatment for 24 h.The number of cell clones was decreased after EEA(10-200 μg/mL)treatment for 14 d(P＜0.01).The morphology of mitochondria became more round and shorter,and the inner mitochondrial matrices were either damaged or absent after 200 μg/mL EEA treatment for 24 h.The ratio of cells in G0/G1 phase and the early apoptosis rate of cells were higher than those of the blank control group(P＜0.01)after EEA(20-200 μg/mL)treatment for 24 h.Western blot re-sults showed that compared with the blank control group,the protein expression levels of cleaved cas-pase-9,Bax,DRP1,and FIS1 were up-regulated(P＜0.05,P＜0.01),and the protein expression levels of cyclin D1,cyclin E,CDK2,CDK4,Bcl-2,Bad,Bcl-XL,SIRT1,PGC-1α,NRF1,TFAM,MFN2,and OPA1 were down-regulated(P＜0.05,P＜0.01).CONCLUSION:EEA has an inhibitory effect on the proliferation of B16-F10 melanoma cells,which may be related to the induction of G1/S cell cycle arrest and mito-chondrial apoptotic pathway,and the disruption of mitochondrial biogenesis and mitochondrial dy-namics.

Objective:To investigate the effect of rehabilitation exercise combined with resistance training on the postoperative recovery and quality of life among patients with pulmonary nodules.Methods:A randomized controlled study was conducted on 90 patients with pulmonary nodules who underwent thoracoscopic resection of pulmonary nodules at Zhejiang Veteran Hospital between January 2022 and April 2023. Patients were randomly allocated into an observation group and a control group, with 45 patients in each group using the random number table method. The control group underwent routine rehabilitation exercise, whereas the observation group received resistance training combined with routine rehabilitation exercise. All patients were treated for 1 week. The incidence of postoperative complications and the changes in lung function, exercise endurance, and quality of life from baseline levels were compared between the two groups.Results:The incidence of postoperative complications in the observation group was significantly lower than that in the control group [6.7% (3/45) vs. 24.4% (11/45), χ2 = 5.41, P = 0.020). After intervention, the forced expiratory volume in 1 second, maximal voluntary ventilation per minute, and forced vital capacity in the observation group were (83.84 ± 4.35)%, (96.53 ± 3.45) L/min, and (2.87 ± 0.16) L, respectively, which were higher than those in the control group [(78.98 ± 4.01)%, (92.13 ± 3.08) L/min, (2.62 ± 0.19) L, t = -5.51, -6.38, -6.75, all P < 0.001]. Additionally, the modified Medical Research Council dyspnea score in the observation group was (0.42 ± 0.13) points, which was significantly lower than that in the control group [(0.87 ± 0.19) points, t = 13.11, P < 0.001). The modified Barthel index score in the observation group was significantly higher than that in the control group [(89.53 ± 3.67) points vs. (82.94 ± 4.23) points, t = -7.89, P < 0.001). Conclusion:The combination of rehabilitation exercise and resistance training can effectively enhance lung function, exercise endurance, and overall quality of life in patients with pulmonary nodules. Furthermore, this combined therapy markedly reduces postoperative complications.

A novel technology is proposed for non-contact and real-time detection of atrial fibrillation using millimeter-wave radar.A 60 GHz PCR millimeter wave radar is used to continuously detect the chest echo signal of the subject.After signal acquisition,I-Q signal is generated through I-Q demodulation,and the signal phase information is extracted using effective points phase trend evaluation for obtaining the signals from oscillations in the chest wall,from which the respiratory signals and cardiac signals are extracted through digital filtering for the analysis of cardiac movement.Whether the atrial fibrillation occurs or not is determined by the characteristics of atrial fibrillation wave in the time domain.The effective points phase trend evaluation for extracting more accurate signal phase information and the time-domain method for real-time atrial fibrillation detection are the innovations of the study.The experimental results show that the proposed method achieves a detection accuracy of 99.2%in clinic.

The diagnosis and treatment of rare diseases have long been significant challenges in the med-ical practice.With the rapid development of genomics and genetics,medical genetics has been widely applied in the diagnosis and treatment of rare diseases.Systematic medical genetics training courses are essential for en-hancing the professional level of clinicians in diagnosing and treating rare diseases.This paper aims to analyze the current status of medical genetics training,discuss the principles and methods of curriculum design,and propose strategies to optimize training effectiveness,in order to enhance their comprehensive capabilities in the diagnosis and treatment of rare diseases.