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 investigate the damaging effects of red blood cell supernatant (RBC-S) stored for different durations (7 d, 14 d, and 28 d) on vascular endothelial cells, and to explore the underlying mechanisms using bioinformatics analysis, so as to provide references for optimizing red blood cell transfusion strategies. Methods: Human umbilical vein endothelial cells (HUVECs) were co-cultured with RBC-S stored for 7, 14 and 28 days, designated as the 7 d group, 14 d group and 28 d group respectively, which were collectively defined as the experimental groups. Cell damage was evaluated by cell proliferation assay (Cell Counting Kit8, CCK8), lactate dehydrogenase (LDH) release assay, 4′, 6diamidino2phenylindole (DAPI) staining, and flow cytometry for apoptosis and reactive oxygen species (ROS) levels. The damage degree of RBC-S on vascular endothelial cells was assessed by statistical analysis of damage data among different groups. Since the damage effect reached a plateau at all time points, the 28 d storage group was selected as the representative for further mechanistic studies. Transcriptomic analysis was performed to explore the role of frizzled class receptor 1 (FZD1) and Wnt signaling pathway in red blood cell storagerelated endothelial dysfunction. Results: Compared with the control group, the storage groups treated with 7 d, 14 d, and 28 d RBC-S showed significantly decreased cell proliferation rates [control group 100%, 7 d group (69.51±2.30)%, 14 d group (74.54±2.89)%, 28 d group (73.59±2.36)%, P<0.05], significantly reduced numbers of DAPI-stained cell nuclei [control group (213±12.5) per field, 7 d group (140.33±17.04) per field, 14 d group (152.00±23.72) per field, 28 d group (144.33±19.09) per field, P<0.05] and significantly increased LDH release [control group (1), 7 d group (8.33±1.41), 14 d group (9.23±0.83), 28 d group (9.16±0.60), P<0.05]. There was no significant difference in the degree of damage caused by RBC-S among different storage groups (P>0.05). With the prolongation of storage time, free hemoglobin (FHb) gradually increased [control group (not detected), 7 d (16.57±6.38) mg/L, 14 d (76.80±22.83) mg/L, 28 d (286.97±29.02) mg/L, P<0.05]. The apoptotic rate (20.53±2.94)% and ROS relative intensity (5.13±0.91) in the 28 d storage group were significantly higher than those in the control group (P<0.05). Transcriptomic analysis showed that FZD1 played a key role in vascular endothelial dysfunction induced by red blood cell storage and was closely related to the Wnt signaling regulatory network. Conclusion: RBC-S stored for 7 d, 14 d, or 28 d can all significantly damage vascular endothelial cells, and the damaging effect reaches a plateau at 7 d of storage. Mechanistic investigation of the 28 d group indicated that the downregulation of the FZD1/Wnt signaling pathway may play a critical role in vascular endothelial dysfunction induced by red blood cell storage, providing a theoretical basis for further optimizing red blood cell storage and transfusion strategies.

This article reports a rare case of autoinflammatory disease presenting initially with skin induration and swelling after trauma as the initial manifestation, followed by progressive limb weakness. The patient was a middle-aged female who developed skin induration and swelling after trauma, which gradually progressed to limb weakness, dysarthria and bilateral facial paralysis, accompanied by livedo reticularis of the lower extremities, diffuse skin induration of the limbs, and beaded subcutaneous nodules in the right upper limb. The patient had a susceptibility to infection since childhood and a history of chronic livedo reticularis. Skin pathological examination revealed panniculitis. A comprehensive etiological screening for special infections and autoimmune diseases was completed with an unremarkable results, and whole-exome sequencing showed no abnormal findings. Following a multidisciplinary discussion combined with RNA sequencing results, the patient was diagnosed with an autoinflammatory disease, with a suspected type Ⅰ interferonopathy. Treatment with tofacitinib resulted in gradual improvement of clinical symptoms. This case highlights the importance of detailed medical history collection, systematic physical examination and multidisciplinary collaborative diagnosis and treatment, and underscores the pivotal role of molecular diagnosis in the confirmation of rare diseases. It can provide a reference for the clinical diagnosis and management of similar rare cases.

Objective To investigate the interaction relationship among symptoms in middle-aged patients during the recovery period of stroke and explore its correlation with rehabilitation confidence,providing a reference for the implementation of precise rehabilitation nursing.Methods A cross-sectional study was conducted,and 365 middle-aged patients in the recovery period of stroke who were hospitalized in 4 tertiary general hospitals in Wuhan from April 20 to August 31,2024 were conveniently selected as the subjects of the investigation.Data were collected using the General Information Questionnaire,Stroke Symptom Experience Scale,and Confidence after Stroke Measure Questionnaire.Symptom network analysis was conducted using R software,and a network structure model of symptoms-rehabilitation confidence was constructed;meanwhile,the stability of the network structure was evaluated.Results Finally,350 middle-aged stroke patients in the recovery period were included.The most common symptom was"limb weakness"(81.1％).Symptom network analysis showed that"limited limb movement"was the core symptom(rs=1.118).The symptoms strongly associated with recovery confidence were"limited physical movement","annoyance at not being able to do what you want to do"and"slow reaction times".Stability tests suggest that the model results are all good.Conclusion Symptoms of middle-aged patients in the recovery period after stroke are interrelated,and the mechanisms by which different symptoms affect rehabilitation confidence are also different.It is recommended that healthcare professionals prioritize interventions based on core symptoms and inter-symptom relationships in order to accurately enhance patient outcomes and improve recovery outcomes.

Objective To investigate the efficacy,safety,and postoperative recovery of plasma radiofrequency ablation at varying dose parameters in pediatric adenoid hypertrophy,while analyzing the dose-effect relationship and determining the optimal parameter range,thus providing a scientific basis for clinical practice.Methods A retrospective analysis was conducted on 55 children diagnosed with adenoid hypertrophy.According to plasma radiofrequency ablation energy,patients were categorized into low-dose group(100 W,n=20),medium-dose group(200 W,n=20),and high-dose group(300 W,n=15).These groups were compared for adenoid-nasopharyngeal ratio improvement at 1-month follow-up,intraoperative blood loss,postoperative pain score,complication rate,and postoperative recovery time.Results Postoperative adenoid-nasopharyngeal ratio improvement was significantly greater in both medium-and high-dose groups as compared with low-dose group(P<0.05),while no significant difference was observed between medium-and high-dose groups(P>0.05).The high-dose group had intraoperative blood loss of(26.4±4.8)mL and higher postoperative wound bleeding incidence than low-and medium-dose groups(P<0.05).The postoperative pain scores on postoperative days 1 and 3 were higher in high-dose group than in the other two groups(P<0.05).These results suggested that medium-dose group achieved the optimal balance between efficacy,safety,and postoperative recovery.Conclusion Plasma radiofrequency ablation with a medium-dose setting of 200 W provides optimal adenoid removal while reducing intraoperative bleeding,minimizing postoperative complications,and shortening recovery time.

OBJECTIVE: To provide the experience and demonstration for the transformation of acupuncture-moxibustion techniques standards from Chinese national standards to international standards. METHODS: Questionnaire research, literature research, semi-structured interviews and expert consultation were used. RESULTS: The safety of acupuncture-moxibustion techniques was evaluated through literature research, and based on the results of the questionnaire survey, expert interviews, and expert consultation, 11 main bodies and structure of the former Chinese national standard, Technical Benchmark of Acupuncture and Moxibustion: General Rules for Drafting, were adjusted and optimized in accordance with the requirements of international standard (including the language, normative references, purpose, scope, applicable environment, target population, work team, terms and definitions, general principles and basic requirements, structural elements and text structure, and compilation process); and the first international standard, World Federation of Acupuncture-Moxibustion Societis (WFAS) Technical Benchmark of Acupuncture and Moxibustion: General Rules for Drafting was formulated to specify the general rules for drafting. CONCLUSION The 3 key questions, "international compatibility", "technical operability" and "safety" should be solved technically on the basis of explicit international requirements. It is the core technical issue during transforming the national standards of technical benchmark of acupuncture and moxibustion into international standards.
Moxibustion/methods* ; Acupuncture Therapy/methods* ; Humans ; Translational Research, Biomedical/standards* ; Surveys and Questionnaires ; China ; Benchmarking/standards*

Objective To characterize the epidemiological,radiographic and clinical features of transmigrated mandibular canines by cone-beam CT(CBCT),in order to provide assistance for treatment planning.Methods Patients treated at our institution diagnosed with mandibular canines transmigration were retrospectively screened using CBCT images from June 2012 to December 2018.Clinical and radiographic parameters including location,classification,neighbouring structures,and associated anomalies were evaluated.Re-sults Eighty-two patients with 85 transmigrated mandibular canines were enrolled,establishing a prevalence of 0.11％(82/75 021).Among these cases,79 patients had unilateral transmigration of mandibular canines;the other 3 had bilateral transmigrations.Thirty-nine cases were male and 43 were female,with age ranging from 10 to 58.According to the Mupparapu classification,type Ⅰ(42,49.41％)was the most prevalent followed by type Ⅱ(19,22.35％)and type Ⅲ(15,17.65％).Fifty-three(62.35％)crowns were located labially,and often associated with odontoma,cyst and supernumerary tooth.Seventy transmigrated canines were surgically re-moved while 2 cases were tried to orthodontically aligned,failed and finally extracted.Ten cases received routine monitoring.Conclu-sion The transmigration of mandibular canines is rarely occurring abnormality with certain clinical imaging features which can assist in clinical diagnosis and treatment planning.

[Objective]To explore the medicinal qualities and background of CHEN Xiuyuan in treating gynecological disorders.[Methods]By reading CHEN Xiuyuan's book Gynaecological Essentials and analyzing its theoretical aspects,treatment concepts and medicinal aspects in relation to regulating women's menstruation,preparing for pregnancy,the perinatal and postnatal periods,etc.[Results]Gynaecological Essentials points out,in terms of diagnostic and therapeutic features,the gynecological disorders are always leukorrheal diseases;it emphasizes the importance of pulse diagnosis,advocates that regulating menstruation should be preceded by stabilizing the spleen and stomach,highlights that four essentials should support preparing for pregnancy,emphasizes spleen and kidney preservation for the fetus and that postpartum illnesses should not be limited in course of disease.In the drug characteristics,Ligusticum chuanxiong Hort(Chuan xiong)and Angelica sinensis(Danggui)are the first choice to replenish Qi and blood,Atractylodes macrocephalae(Baizhu)is an essential part of a prescription for calming the fetus,and the use of blood,flesh and sentimental products is preferred,while the use of medicines during pregnancy is advised to be within a reasonable range.[Conclusion]CHEN Xiuyuan learned the ancients but didn't stick stubbornly in treating gynecological diseases,emphasized the importance of pulse diagnosis,paid attention to the spleen and stomach,used medication to replenish Qi and blood,and the principle-method-recipe-medicines was very distinctive,which was of great significance to the differentiation and treatment of gynecological diseases in later generations.