1.International Status of Using Digital and Intelligent Technology to Ensure Access to Medication of Rare Diseases and Prospects for System Improvement in China
JOURNAL OF RARE DISEASES 2025;4(1):139-148
This article explored the strategies of promoting access to medicines for rare diseases with digital and intelligent transformation technology in China. It summarized the mature, global-oriented, digital and intelligent transformation supported platforms for promoting rare disease research, technology and product development, as well as diagnosis and treatment information sharing in typical countries and region. This was followed with analyses of the challenges of access to medicines for rare diseases in China. It also systematically reviewed a range of policies implemented in China intended to promote access to medicines for rare diseases, and the digital and intelligent solutions to promote access to medicines for rare diseases at national and regional levels. The authors proposed that the central government agencies and their technical support institutions take a lead to construct a patient-centered dynamic and decentralized national big data sharing platform for rare diseases registry and research, medicines development, production and supply, access to care and medicines, payment and security, utilization surveillance in China. With the support of digital and intelligent technologies, this national platform would be able to link multiple stakeholders to achieve integrated analysis of big data, as well as international sharing and exchange, which will help to effectively and efficiently promote access to medicines for rare diseases in China.
2.A case of type 1 diabetes caused by gastric cancer treated with Sintilimab
Yihan GAO ; Jingyu CHEN ; Haoyu FU ; Junquan YANG
Clinical Medicine of China 2024;40(1):70-72
Immune checkpoint inhibitors (ICIs) are currently used in the treatment of various tumors and play an important role in tumor treatment, resulting in many adverse reactions related to the immune system. Type 1 diabetes (T1DM) is a rare endocrine system complication, which is rarely reported at present. We report a case of T1DM after using ICIs to treat gastric cancer. The patient was a 34 year old male who developed diabetes ketoacidosis after 206 days of sintilimab monoclonal antibody use, with fasting blood glucose of 15.78 mmol/L and glycosylated hemoglobin of 8.6%. Islet related antibody: Glutamate decarboxylase antibody: 119.2 IU/mL; Insulin antibody:<2 IU/L. Fasting insulin: 0.21 mU/L; Fasting C-peptide: 0.12 μg/L. Through the analysis of patients' clinical data, it aims to improve clinicians' understanding of immune related type 1 diabetes and provide ideas for correct diagnosis and treatment.
3.Construction of Traditional Chinese Medicine Constitution Classification Program from a Multidimensional Perspective
Yiwen GUO ; Guangwei FU ; Yihan WANG ; Xisheng SANG
Journal of Traditional Chinese Medicine 2024;65(10):985-989
By sorting out the literature related to constitution and referring to the concept and method of "element", many ancient and modern theories of constitution are deconstructed into multi-dimensional "constitution elements". These constitution elements are divided into two levels: basic and derivative. The basic level is the most basic element of constitution, including zang-fu organs/body and material. The zang-fu organs/body dimension focuses on the fixed functional units in the human body, and the material dimension focuses on the rheology functional units of human body. The derivative level is the secondary physiological or psychological state in life activities, including emotion and qi transformation. The emotional dimension focuses on the state of human psychological activities, and the qi transformation dimension focuses on the state of human physiological activities in cold, heat, dampness, and dryness. Based on this, we can further study the influence of factors such as age, gender, region, and social class, on the combination rule of "constitution element", so as to form a more comprehensive classification program of constitution.
4.Clinical characteristics of artificial quartz stone silicosis patients
Jie YANG ; Qin YIN ; Zhen FU ; Wangcai ZHU ; Songming LI ; Jixian ZHANG ; Yihan YU
China Occupational Medicine 2023;50(4):430-435
Objectives To explore and compare the clinical characteristics and risk factors for mortality between patients with artificial quartz stone silicosis and those with classic silicosis. Methods A total of 48 patients with artificial quartz stone silicosis (experiment group) and 98 patients with classic silicosis (control group) were recruited as the research subjects using the convenience sampling method. Data of clinical symptoms, laboratory tests, high-resolution computed tomography (HRCT), and pulmonary pathology of the research subjects were retrospectively analyzed. The Cox proportional hazards regression model was used to analyze the influencing factors on the survival time of silicosis patients. Results Patients in the experiment group had shorter years of dust exposure, latency period and time since last exposure than those in the control group (all P<0.01). The positive rate of anti-nuclear antibodies and the expression of neuron-specific enolase in the experiment group were higher than those in the control group (39.6% vs 10.2%, median: 28.44 vs 16.25, both P<0.01). The PaO2 levels in the experiment group were lower than those in the control group (median: 66.0 vs 89.0, P<0.01). The patients in the experiment group had lower vital capacity, inspiratory reserve volume, forced expiratory volume in the first second (FEV1), forced vital capacity (FVC), and carbon monoxide diffusion capacity compared to the control group (all P<0.05), but the maximal expiratory flow in 75% vital capacity was higher than the control group (P<0.05). Compared with the control group, patients in the experiment group had the presence of ground-glass opacity (GGO) in both lungs, aggregation and fusion of subpleural nodules, and gradual formation of progressive massive fibrosis (PMF), with higher potential of pneumothorax. Within 5 years after diagnosis, the mortality of patients in the experiment group was higher than that in the control group (27.1% vs 4.1%, P<0.01). The Cox regression model analysis results showed that patients with nodule aggregation on lung HRCT images had a higher risk of mortality than those without nodule aggregation, and lower lung function including vital capacity, FVC, FEV1 and maximum expiratory flow in 25% vital capacity had higher risk of reduced survival time (all P<0.05). Conclusion Compared with patients with classic silicosis, patients with artificial quartz stone silicosis have higher level of serum neuron-specific enolase, increasing the risk of autoimmune diseases. Pulmonary imaging features in patients with artificial quartz stone silicosis include GGO, PMF and susceptibility to pneumothorax, and rare calcification of mediastinal lymph nodes, leading to a higher mortality rate within 5 years after diagnosis.
5.Prediction of lymph nodes metastasis between sternocleidomastoid and sternohyoid muscle in papillary thyroid cancer
Qingfeng FU ; Chenxi TIAN ; Yishen ZHAO ; Yan CHEN ; Meiyu YUAN ; Yihan WANG ; Hui SUN ; Yantao FU
Chinese Journal of Endocrine Surgery 2023;17(4):410-414
Objective:To investigate the risk factors and clinical significance of lymph nodes metastasis between sternocleidomastoid and sternohyoid muscle lymph node (LNSS) metastasis in thyroid cancer patients, so as to guide the reasonable dissection of LNSS region and lateral cervical lymph node in patients with papillary thyroid carcinoma (PTC) .Methods:We selected 111 PTC patients with lateral cervical lymph node metastasis who underwent radical thyroidectomy and lateral cervical lymph node dissection from Nov. 2018 to Dec. 2021 in China-Japan Union Hospital of jilin university. All patients were treated with low collar arc incision. Radical thyroidectomy and lateral cervical lymph node dissection were performed according to the guidelines, and lymph nodes in each district were grouped for pathological examination. According to whether LNSS metastasis occurred, they were divided into two groups: LNSS positive group (LNSS metastasis occurred) and LNSS negative group (LNSS metastasis did not happen). We collected the basic information of all 111 PTC patients with lateral lymph node metastasis (LLNM), preoperative color Doppler ultrasound examination and paraffin-embedded pathology and other related clinical case data. Then we described the clinicopathological features of cervical lymph node metastasis. Independent sample t test and Mann-Whitney U test were used for continuous variables, and Fisher exact test was used for data analysis for classified variables. Correlation analysis adopted binary logistics regression model, and analyzed the regularity and risk factors of LNSS metastasis. Results:In this study, the detection rate of LNSS was 64.9% (72/111), the overall LNSS metastasis rate was 7.2% (8/111), and the number of lymph node metastasis was 0-5. Univariate analysis showed that the location of LNSS metastasis was related with the cancer focus ( P<0.001), the preoperative serum thyroglobulin (Tg) level ( P=0.002), the number of lymph node metastasis in lateral cervical level Ⅳ ( P=0.001), the longest diameter of the cancer focus ( P=0.003) and the longest diameter of metastatic lymph nodes ( P=0.001) However, age, sex, whether there is lymph node metastasis in the central region (central lymph node metastasis ,CLNM), and whether there is multifocal cancer were not related to LNSS metastasis ( P≥0.05). Further multivariate analysis and work curve analysis of subjects showed that the tumor located in the lower pole ( P=0.014) and the number of lymph node metastasis in level Ⅳ more than 3 ( P=0.027) were independent risk factors for LNSS metastasis. It was found that the risk of LNSS metastasis increased when the cancer focus was located at the lower pole relative to the upper pole or middle part of the cancer focus ( OR=74.508, 95% CI: 2.373-2339.544). The number of lymph node metastasis in level Ⅳ had a positive effect on LNSS metastasis. The more lymph node metastasis in level Ⅳ, the higher the risk of LNSS metastasis ( OR=1.556; 95% CI=1.051-2.303) . Conclusions:In PTC patients with LLNM, the LNSS metastasis rate was 7.2%, and the advantages of LNSS cleaning outweigh the disadvantages. When the cancer focus is located at the lower pole and the number of lymph node metastasis in region Ⅳ is more than 3, it is necessary to pay attention to the dissection of this group of lymph nodes.
6.Correlation of sleep quality, anxiety, depression and sympathetic skin response in chronic insomnia
Xin GU ; Ping GU ; Yihan LIU ; Hongyan ZHANG ; Ci DONG ; Huimiao LIU ; Wenting WANG ; Ying FU ; Na LI
Chinese Journal of Neurology 2017;50(9):665-670
Objective To investigate the correlation between chronic insomniacs' sleep quality and age,gender,education level,anxiety,depression and sympathetic skin response (SSR) in chronic insomniacs.Methods General information of 197 outpatients with chronic insomnia was recorded,including age,gender and education,etc.They were tested by Pittsburgh's Sleep Quality Index (PSQI),Hamilton's Anxiety Scale (14 item version) (HAMA14),Hamilton's Depression Scale (24 item version)(HAMD24) and Sympathetic Skin Response (SSR).Distribution properties of different age,gender and education groups were studied.Chronic insomniacs were divided into mild insomnia group (7 ≤ PSQI < 14)and moderate-severe insomnia group (PSQI ≥ 14).Dependency relation analysis and stepwise linear regression analysis were conducted among indices of PSQI scores,HAMA14 scores and total score,HAMD24 scores and total score,SSR positive incidence.Results Among 197 chronic insomniacs (male,50 cases,25.4%;female,147 cases,74.6%),insomniacs aged over 40 accounted for 77.2%.Female patients were older than male patients with statistical significance,of whom those aged 40-60 years accounted for the highest proportion of 37.1%.Female patients with less education (junior high school and below)accounted for the highest proportion of 50.3% (73/197),whose education level was generally lower than male patients.Among 197 chronic insomniacs,104 cases (52.8%,99/197) had mild insomnia and 93cases (47.2%) had moderate-severe insomnia.Total score of HAMA14 of patients with moderate-severe insomnia was significantly higher than that of patients with mild insomnia (16.47 ± 5.40 vs 12.51 ± 4.53;t =5.552,P<0.01).There was statistically significanct difference in subitem HAMA14 scores of anxiety somatization factor (4.31 ± 2.26 vs 5.90-3.10,t =5.600,P < 0.01) and spiritualized anxiety factor (10.5 ± 72.97 vs 8.20 ± 3.00,t =4.157,P < 0.01) between mild and moderate-severe groups with insomnia.Total score of HAMD24 of patients with moderate-severe insomnia was significantly higher than that of patients with mild insomnia (18.04 ± 5.91 vs 13.41 ± 5.05;t=3.931,P< 0.01).There was statistically significanct difference in scores of most HAMD24 subitems including anxiety/somatization (3.56 ± 1.51 vs 2.94 ± 1.28;t =3.110,P =0.002),cognitive dysfunction (2.91 ± 1.68 vs 2.17 ± 1.57;t=3.191,P=0.002),retardation (2.331 ±1.31 vs 1.72 ±1.22;t=3.939,P=0.01),dyssomnia (4.51 ± 1.54 vs 3.01 ± 1.80;t =6.228,P <0.01) and hopelessness factor (2.29 ± 1.46 vs 1.66 ± 1.07,t =3.459,P =0.001;except body weight and diurnal variation factor) between groups with different degrees of insomnia.SSR abnormal incidences of moderate-severe insomniacs were significantly higher than that of mild insomniacs.The proportion of poorly differentiated waveform and not elicited waveform in SSR abnormal groups had statistically significant difference.The Pearson correlation analysis showed that PSQI scores in chronic insomnia patients and HAMA14,HAMD24 score as well as abnormal rate of SSR were positively correlated (r =0.439,0.465,0.249,all P < 0.01).Conclusions Chronic insomnia was commonly seen in middle-aged women with education level of junor high school and below.The degree of sleep quality and anxiety,depression as well as the abnormal rate of SSR was positively correlated in patients with chronic insomnia.

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