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.

The Expert Consensus on Clinical Application of Qinbaohong Zhike Oral Liquid in Treatment of Acute Bronchitis and Acute Attack of Chronic Bronchitis （GS/CACM 337-2023） was released by the China Association of Chinese Medicine on December 13^th， 2023. This expert consensus was developed by experts in methodology， pharmacy， and Chinese medicine in strict accordance with the development requirements of the China Association of Chinese Medicine （CACM） and based on the latest medical evidence and the clinical medication experience of well-known experts in the fields of respiratory medicine （pulmonary diseases） and pediatrics. This expert consensus defines the application of Qinbaohong Zhike oral liquid in the treatment of cough and excessive sputum caused by phlegm-heat obstructing lung， acute bronchitis， and acute attack of chronic bronchitis from the aspects of applicable populations， efficacy evaluation， usage， dosage， drug combination， and safety. It is expected to guide the rational drug use in medical and health institutions， give full play to the unique value of Qinbaohong Zhike oral liquid， and vigorously promote the inheritance and innovation of Chinese patent medicines.

BACKGROUND:A novel aggregation induced luminescence fluorescence probe based on the mechanism of intramolecular motility restriction can be used for the detection of disease markers,tumor diagnosis,and bacterial imaging recognition.OBJECTIVE:To prepare a near-infrared Ⅱ nanoprobe called FA-DSPE-PEG-AIE@NPs based on aggregation-induced luminescence,and to explore its potential of targeted fluorescence imaging and photothermal therapy for prostate cancer.METHODS:Lecithin,polyethylene glycol phospholipids,folate polyethylene glycol phospholipids,and aggregation induced luminescent molecule 2TT-oC26B were used as raw materials.The folate-targeted nanoprobe FA-DSPE-PEG-AIE@NPs were prepared by nanoprecipitation method,and basic characterization of the nanoprobe was detected.PC3 human prostate cancer cells and human umbilical vein endothelial cells were selected as experimental objects.The cytotoxicity and phototoxicity of FA-DSPE-PEG-AIE@NPs were detected.PC3 human prostate cancer cells were selected as the experimental objects.Flow cytometry and calcein/propidium iodide staining were used to assess the efficacy of photothermal therapy.PC3 human prostate cancer cells were injected subcutaneously into the abdomen of BALB/C nude mice to establish a tumor model,and nanoprobes FA-DSPE-PEG-AIE@NPs were injected into the tail vein.The mice were immediately subjected to near-infraced Ⅱ fluorescence imaging.12 hours later,the tumor was irradiated by laser for 5 minutes,and the photothermal treatment effect was observed within 14 days.RESULTS AND CONCLUSION:(1)The nanoprobes FA-DSPE-PEG-AIE@NPs with a mean diameter of(171.0±0.3)nm showed a well-defined spherical morphology.The nanoprobe had a wide absorption spectrum and tail emission extending to the near-infrared Ⅱ which emitted a bright near-infrared Ⅱ fluorescence signal under laser irradiation.(2)The nanoprobes FA-DSPE-PEG-AIE@NPs had low cytotoxicity and high phototoxicity.The results of flow cytometry and calcein/propidium iodide staining showed that nanoprobes FA-DSPE-PEG-AIE@NPs had an obvious photothermal killing effect on human prostate cancer cells.(3)The nanoprobes FA-DSPE-PEG-AIE@NPs successfully achieved near-infrared Ⅱ fluorescence imaging of mouse blood vessels and the maximum enrichment time of the tumor was 12 hours.The vessel widths of the hind leg and single blood vessels of abdomen were estimated to be 0.63 mm and 0.42 mm.The tumor volume of mice was significantly smaller after 14 days of treatment.(4)The results show that nanoprobes FA-DSPE-PEG-AIE@NPs can achieve near-infrared Ⅱ fluorescence imaging and photothermal therapy of prostate cancer effectively,which may provide a new method for early diagnosis and combined treatment of prostate cancer.

Objective:To explore the gait and eye movement parameters in early Parkinson's disease(PD)with sleep disorders, and analyze their association with underlying pathophysiological mechanisms.Methods:This study was a cross-sectional single-center design that included 82 early PD patients with Hoehn-Yahr(H-Y)staging ≤2.5 who visited Beijing Hospital from October 2023 to May 2025.Patients were divided into two groups according to the PDSS-2 score(total score ≤15 for the no sleep disorder group and total score >15 for the sleep disorder group). Gait and eye movement parameters were collected respectively through the ReadyGo system and the EyeKnow eye movement system, and analyzed in combination with clinical scales.Multivariate logistic regression was employed to identify independent characteristic parameters associated with sleep disorders.Results:In terms of gait, the sleep disorder group had significantly lower step speed, left-right stride speed, and left-right swing speed(all P<0.05), and significantly higher variability of left-right stride time( P=0.017, 0.026). Regarding eye movements, the sleep disorder group had significantly more vertical smooth pursuit offsets[(56.24±2.87)times vs.(45.98±18.18)times, P=0.040], significantly higher maximum real-time variability of the right eye in response to light stimuli(90.75 vs.67.95%, P=0.006), and a longer latency to error responses in the counter-scanning task(337.06 vs.286.63 ms, P=0.005). To precisely control for confounding factors, key covariates such as mood and disease severity were included in the multivariate logistic regression model.After comprehensive adjustment, higher anxiety levels(Hamilton Anxiety Rating Scale, HAMA)( OR=1.32, P<0.001)and an increased number of vertical smooth pursuit offsets( OR=1.06, P=0.010)were independent factors associated with sleep disorders in early PD patients. Conclusions:In early PD patients, sleep disorders are closely associated with specific abnormalities in gait and eye movement parameters.In particular, vertical smooth pursuit offsets may serve as an objective biomarker independent of emotional status, reflecting the dysfunction of shared neural circuits.However, further mechanism studies are needed to verify whether they reflect the dysfunction of shared neural circuits.

Objective:To evaluate gait characteristics in early-stage Parkinson′s disease (PD) patients using an artificial intelligence-based quantitative motor function assessment system (Readygo) and validate whether PD patients with clinically normal gait actually exhibit objective gait impairments, and to explore the features and progression patterns of gait dysfunction in early PD.Methods:This cross-sectional, single-center study enrolled early-stage PD patients (Hoehn-Yahr stage≤2.5) from outpatient or inpatient departments of Beijing Hospital between October 2023 and October 2024, along with accompanying caregivers as healthy controls (HCs). Demographic data (sex, age, education level) were collected, and cognitive, psychological, and sleep-related scales assessments were administered. Based on the gait score (Item 3.10) from the Movement Disorder Society-Unified Parkinson′s Disease Rating Scale-Ⅲ (MDS-UPDRS-Ⅲ), PD patients were stratified into 3 subgroups: PD-normal gait (score=0), PD-mild gait impairment (score=1), and PD-moderate gait impairment (score=2). The Readygo system quantified gait parameters, including step width, stride length, step height, gait speed, stride velocity, swing velocity, and turn duration. Binary Logistic regression was uesd to identify biomarkers differentiating PD-normal gait group from HCs.Results:A total of 66 early-stage PD patients and 34 HCs were enrolled. Across the HCs, PD-normal gait, PD-mild gait impairment and PD-moderate gait impairment groups, there was a progressive decline in gait speed [1.07 (0.97, 1.15) m/s vs 0.97 (0.90, 1.06) m/s vs 0.90 (0.82, 1.00) m/s vs 0.77 (0.72, 0.86) m/s, H=29.949, P<0.001], bilateral stride velocity [left: 1.14 (1.07, 1.21) m/s vs 1.06 (0.94, 1.14) m/s vs 0.95 (0.88, 1.04) m/s vs 0.86 (0.76, 0.93) m/s, H=30.778, P<0.001; right: 1.12 (1.04, 1.22) m/s vs 1.04 (0.95, 1.13) m/s vs 0.96 (0.90, 1.04) m/s vs 0.89 (0.77, 0.90) m/s, H=29.561, P<0.001], and bilateral swing velocity [left: (2.56±0.28) m/s vs (2.38±0.32) m/s vs (2.19±0.33) m/s vs (1.96±0.32) m/s, F=14.132, P<0.001; right: 2.46 (2.35, 2.62) m/s vs 2.35 (2.13, 2.62) m/s vs 2.22 (2.05, 2.36) m/s vs 2.03 (1.71, 2.13) m/s, H=25.771, P<0.001], along with a progressive shortening of bilateral step length [left: 1.19 (1.14, 1.27) m vs 1.15 (1.04, 1.22) m vs 1.05 (0.93, 1.18) m vs 0.95 (0.80, 1.06) m, H=32.613, P<0.001; right: 1.20 (1.14, 1.30) m vs 1.13 (1.03, 1.22) m vs 1.07 (0.90, 1.17) m vs 0.97 (0.80, 1.03) m, H=30.528, P<0.001]. Conversely, turning time progressively lengthened [1.20 (1.09, 1.49) s vs 1.21 (1.10, 1.46) s vs 1.30 (1.19, 1.51) s vs 1.98 (1.53, 2.12) s, H=23.195, P<0.001]. Logistic regression identified that the right stride length was a discriminative factor between HCs and PD-normal gait group ( OR=0.023, 95% CI 0-0.291, P=0.012). Conclusions:As gait dysfunction worsens, PD patients demonstrate gradual reductions in speed-related parameters and stride length, with increasing turn duration.Early PD patients with clinically normal gait may already exhibit subtle impairments. Right stride length may serve as a potential biomarker to distinguish PD patients from HCs.

This article reports the clinical and genetic characteristics of a female patient with X-linked sideroblastic anemia with ataxia (XLSA/A). The 36-year-old patient had an insidious onset with progressive worsening, primarily presenting with ataxia, dysarthria, and cognitive decline. Magnetic resonance imaging of the head revealed mild atrophy of the brainstem and cerebellum. Whole-genome sequencing identified a heterozygous c.871G>A (p.G291S) variant in the ABCB7 gene, inherited from the patient′s mother. X-chromosome inactivation analysis showed a skewed ratio of 82% (with predominant inactivation of the paternal X chromosome). This study is the first to report a case of XLSA/A in a female caused by a heterozygous ABCB7 gene c.871G>A variant, indicating that skewed X-chromosome inactivation can lead to clinical manifestations in female carriers, expanding the understanding of the pathogenesis of XLSA/A.

Objective:To apply the Timed Up and Go Test(TUGT)to investigate the correlation between motor function, emotional state, cognitive function, and sleep quality among elderly individuals in the Chinese community.Methods:A cross-sectional study was conducted, involving 739 subjects aged 60 to 90 years, who were randomly recruited from December 2021 to August 2023 across Beijing, Tianjin, Zhejiang, Guangdong, and Hainan Provinces in China.Basic demographic information was collected, and the TUGT was utilized to assess motor function.Based on the TUGT time(t), the subjects were divided into three groups: normal motor function group, mild motor abnormality group, and significant motor abnormality group.Cognitive function was evaluated using the Chinese Revised Mini-Mental State Examination(MMSE), while the Patient Health Questionnaire Depression Scale(PHQ-9)was employed to measure the degree of depression.Additionally, the Epworth Sleepiness Scale(ESS)was used to assess excessive daytime sleepiness.The correlation between subjects' motor function and their cognitive abilities, mood, and sleep was subsequently analyzed.Results:Systolic blood pressure, heart rate, PHQ-9, MMSE, and ESS scores were identified as significant factors influencing TUGT time.Specifically, TUGT time was positively correlated with PHQ-9 and ESS scores, while exhibiting negative correlations with systolic blood pressure, heart rate, and MMSE scores.Additionally, TUGT time was negatively correlated with the MMSE subcomponents of orientation, immediate memory, and verbal ability.All observed differences were statistically significant(all P<0.05).Logistic regression analysis indicated that an increase in the PHQ-9 score was associated with an odds ratio( OR)of 1.099(95% CI: 1.045-1.155, P<0.001)(mild motor abnormality group)and 1.150(95% CI: 1.066-1.242, P<0.001)(Significant motor abnormality group).Additionally, a reduction in the MMSE score was observed, with an OR of 0.939(95% CI: 0.886-0.995, P<0.001)(mild motor abnormality group)and 0.793(95% CI: 0.729-0.862, P<0.001)(Significant motor abnormality group).Furthermore, an increase in the ESS score was noted, with ORs of 1.139(95% CI: 1.094-1.186, P<0.001)(mild motor abnormality group)and 1.203(95% CI: 1.132-1.279, P<0.001)(Significant motor abnormality group).These findings suggest that these variables are independently related to decreased motor function. Conclusions:Depression, cognitive impairment, and excessive daytime sleepiness are independent risk factors for motor dysfunction among elderly individuals in community settings.The Timed Up and Go Test TUGT can be utilized for the early screening of motor function decline in this population.

Dysfunction of the diaphragm is a common problem in mechanically ventilated patients and is closely related to various adverse outcomes.This review summarizes the evaluation methods of diaphragm function,the association between diaphragm dysfunction and adverse clinical outcomes in critically ill mechanically ventilated patients,and the protective effect of diaphragm function on adverse outcomes related to mechanical ventilation.The aim is to provide references for medical staff to optimize evaluation techniques,develop personalized nursing plans,and improve patients' quality of life and health outcomes.

Objective:To explore the current status and influencing factors of fatigue in patients with Cushing syndrome in China, so as to provide a basis for clinical interventions.Methods:Convenience sampling was used to select 260 inpatients with Cushing syndrome who met the inclusion and exclusion criteria in 9 ClassⅢ Grade A hospitals within the 7 geographic subregions of China from February to April 2023 for the study. General Information Questionnaire, the Chinese version of the Multidimensional Fatigue Inventory-20, Barthel Index, and Self-Rating Depression Scale were used for the survey.Results:A total of 260 questionnaires were distributed and 241 valid questionnaires were recovered, with an effective recovery rate of 92.7% (241/260). The MFI-20 score of 241 patients with Cushing syndrome was 58.00 (46.00, 64.00). 65.1% (157/241) of patients with Cushing syndrome suffered from fatigue, and 73.2% (115/157) of patients with fatigue exhibited multidimensional fatigue. Univariate analysis showed that there were statistically significant differences in fatigue scores among patients with Cushing syndrome with different cultural levels, recurrence frequency, activity of daily living, hypertension, and depression ( P<0.05). Multiple linear regression analysis showed that depression was a risk factor for fatigue in patients with Cushing syndrome, and the difference was statistically significant ( P<0.05) . Conclusions:Fatigue in patients with Cushing syndrome needs attention. Medical and nursing staff should pay close attention to the psychological status of patients with Cushing syndrome, encourage them to actively cope, alleviate their depression, in order to improve their fatigue.

Objective:To explore the current status and influencing factors of fatigue in patients with Cushing syndrome in China, so as to provide a basis for clinical interventions.Methods:Convenience sampling was used to select 260 inpatients with Cushing syndrome who met the inclusion and exclusion criteria in 9 ClassⅢ Grade A hospitals within the 7 geographic subregions of China from February to April 2023 for the study. General Information Questionnaire, the Chinese version of the Multidimensional Fatigue Inventory-20, Barthel Index, and Self-Rating Depression Scale were used for the survey.Results:A total of 260 questionnaires were distributed and 241 valid questionnaires were recovered, with an effective recovery rate of 92.7% (241/260). The MFI-20 score of 241 patients with Cushing syndrome was 58.00 (46.00, 64.00). 65.1% (157/241) of patients with Cushing syndrome suffered from fatigue, and 73.2% (115/157) of patients with fatigue exhibited multidimensional fatigue. Univariate analysis showed that there were statistically significant differences in fatigue scores among patients with Cushing syndrome with different cultural levels, recurrence frequency, activity of daily living, hypertension, and depression ( P<0.05). Multiple linear regression analysis showed that depression was a risk factor for fatigue in patients with Cushing syndrome, and the difference was statistically significant ( P<0.05) . Conclusions:Fatigue in patients with Cushing syndrome needs attention. Medical and nursing staff should pay close attention to the psychological status of patients with Cushing syndrome, encourage them to actively cope, alleviate their depression, in order to improve their fatigue.