Classification, Diagnosis and Management Status of Carbohydrate Metabolic Rare Disorders / 罕见病研究

Approximately 30%-40% of rare diseases are related to the endocrine and metabolic system, and abnormal metabolism of carbohydrate accounts for a significant proportion among others. Carbohydrate metabolic rare disorders often develop insidiously. The clinical symptoms of these disorders sometimes overlap with common diseases. Therefore, delayed diagnosis, misdiagnosis, and mismanagement happen often. The diagnosis and treatment of carbohydrate metabolic rare disorders is usually difficult in clinical practice. Efficient and practical screening models, identification of specific clinical features and biochemical changes, and genomic sequencing are critical to improve diagnostic efficiency. Most carbohydrate metabolic rare disorders are still lack in effective and targeted therapies. So, the symptomatic treatment is still main practice. The targeted medications and gene therapies based on precision diagnosis are directions for the diagnosis and management of rare disorders of carbohydrate metabolism in the future. In this paper, we classify the carbohydrate metabolic rare disorders based on their causes. We also discuss the current status and prospective of diagnosis and management of those diseases.

Analysis and enlightenment of medical alliance cooperation under Luohu global budget based on game theory / 中华医院管理杂志

Luohu District of Shenzhen has implemented the global budget management mode as " surplus reward, no compensation for overspending and reasonable sharing" in the hospital group, which continued to strengthen cooperation, optimize services, reduce costs, and improve health outcomes. The authors employed the game theory to build a game model of medical alliance under Luohu global budget management mode, discussing the reasons of medical and health institution′s stronger cooperation and what could be improved in Luohu′s case. Based on the experience of Luohu total budget management, it is suggested that when implementing total budget, all localities should improve closed-loop management, expand coverage, adopt compound medical insurance payment method, promote outpatient coordination, strengthen assessment and incentives, so as to give full play to the incentive role of total budget.

Peripheral 5-hydroxytryptophan aggravates lung injury in septic mice by inducing the formation of neutrophils extracellular trap / 中华危重病急救医学

Objective:To observe the effect of peripheral 5-hydroxytryptophan (5-HT)-induced neutrophil extracellular trap (NET) on lung injury in septic mice.Methods:Wild-type (WT type) and Tph1 knockout (KO) C57 mice (6-8 weeks) were selected and divided into WT mice sham group, WT mice sepsis group, Tph1 KO mice sham group and Tph1 KO mice sepsis group according to the random number table method. Mice in the sham group received sham surgery (only open the abdominal cavity to flip the cecum without ligation and puncture, and then close the abdominal cavity); the mice in the sepsis group received cecal ligation and puncture (CLP) to establish sepsis model. The mice were sacrificed 12 hours after the operation, and the levels of tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6) in bronchialalveolar lavage fluid (BALF) were detected by enzyme linked immunoadsordent assay (ELISA); at the same time, the lung tissues were collected, and the pathological changes of lung tissues were observed under light microscope, and the production of NET in lung tissues was observed by immunofluorescence microscope. Results:The pathological results suggested that the lung tissue structure in sham groups was intact without exudation, while the alveolar structures of mice in the sepsis groups were damaged, with obvious exudation in the alveolar cavity and thickened alveolar walls accompanied by a large number of inflammatory cell infiltration, and the degree of lung injury in the sepsis group of WT mice was more severe than that of the sepsis group of Tph1 KO mice. ELISA results showed that there was no statistically significant difference in the contents of TNF-α and IL-6 in mice BALF from different strains of the sham group; while the contents of TNF-α and IL-6 in BALF of septic mice group were significantly higher than those in sham group [WT mice: TNF-α (μg/L) was 158.20±28.46 vs. 14.00±3.28, IL-6 (μg/L) was 304.98±21.78 vs. 57.70±12.30; Tph1 KO mice: TNF-α (μg/L) was 85.88±20.13 vs. 14.95±1.53, IL-6 (μg/L) was 169.50±45.61 vs. 55.05±12.68, all P < 0.01], and the above index levels in the sepsis group of WT mice were significantly higher than the sepsis group of Tph1 KO mice [TNF-α (μg/L): 158.20±28.46 vs. 85.88±20.13, IL-6 (μg/L): 304.98±21.78 vs. 169.50±45.61, both P < 0.01]. Immunofluorescence staining showed that a very small amount of NET formation was detected in the mice lungs from the sham group; a large amount of NET formation was detected in the lung tissues in the sepsis group, which were significantly higher than those in sham group [WT mice: (34.75±7.27)% vs. (1.75±0.96)%, Tph1 KO mice: (14.25±5.74)% vs. (2.50±1.29)%, both P < 0.01], and the amount of NET produced in the lung tissues of the WT mice sepsis group was significantly higher than that of the Tph1 KO mice sepsis group [(34.75±7.27)% vs. (14.25±5.74)%, P < 0.01]. Conclusions:In sepsis, the increased production of inflammatory factors in the mice lung tissues induces to lung injury. The mechanism may relate to the increased production of NET in the lung tissues mediated by peripheral 5-HT synthesized by enterochromaffin cells and released into the blood; inhibiting the production of 5-HT in the peripheral blood can effectively reduce the production of NET in the lung tissues, thereby reducing lung injury.

Surveys on the infrastructure construction of healthcare institutions in public health emergencies: data of Wuhan / 中华医院管理杂志

Objective:To analyze, with Wuhan as an example, the problems found in the infrastructure development of China′s healthcare institutions, and put forward optimization suggestions for future epidemic prevention and control.Methods:From May to June 2020, we surveyed with questionnaires 56 healthcare institutions in Wuhan, covering such aspects as basic information of the institutions, infectious disease infrastructure readiness, and the converted wards for COVID-19. Statistical descriptions were used to analyze data so acquired.Results:The number of beds in the infectious departments of healthcare institutions in Wuhan amounted to 1.64 per 10 000 people, yet the existing 1 873 beds and about 5 000 convertible beds failed to meet the medical needs against the outbreak of COVID-19. After the outbreak, a total of 19 084 convertible beds were set up, of which general hospitals accounted for 88%; the area occupied by each converted bed in traditional Chinese medicine hospitals, hospitals of traditional and Western medicine, and maternal and child hospitals (<30.0m 2) was lower than that in general hospitals and specialist hospitals (>40.0m 2). Conclusions:Healthcare institutions should scientifically allocate " peacetime-wartime adaptive" hospital beds, optimize both the number and efficiency of these beds, and prepare for the worst scenarios, so that the infrastructure can be built and maintained in strict accordance with standards, government departments can rationally arrange infectious disease prevention and control facilities and strengthen their planning in case of emergencies.

Analysis and enlightenment of physicians′ strategy faced with healthcare insurance " point method" in Germany based on game theory / 中华医院管理杂志

Germany has introduced the " point method" of fee-for-service at the outpatient departments under a global budget system, in an effort to curb medical expenditure growth. The authors employed the game theory to build a physician′s game model under Germany′s point method, illustrating the causes of " increasing points" behaviors of physicians, the negative effects caused by the increase of points as well as the prevention and control measures employed by Germany and its mechanism. Point method payment has been introduced in several areas in China at their inpatient departments, which is delivered to medical service providers via the performance-based distribution model, with the providers affected in their behaviors. As a result, some areas will tend to appear such " increasing points" behaviors as competing for patients, lowering admission criteria, and raising point value. In view of Germany′s experiences, China should adopt such measures as dynamic monitoring system, disclosure of " increasing points " behaviors, perfection of hierarchical medical system, and strengthening the self-governance via medical sector′s associations.

Clinical features and precision medicine of the six most common types of monogenic diabetes / 中华内分泌代谢杂志

Monogenic diabetes is a special type of diabetes caused by a single gene mutation, and it is commonly misdiagnosed in clinical practice. The two major forms of monogenic diabetes are neonatal diabetes(NDM) and maturity onset diabetes of the young(MODY). The most common mutations in 6 genes, induding HNF1α, GCK, HNF4α, KCNJ11, ABCC8, and INS, account for more than 90% of all monogenic diabetic cases. This article is to review recent advances in clinical features, and precision medicine of monogenic diabetes, and to discuss the significance of insights gained from monogenic diabetes in better understanding the pathogenesis of type 1 and type 2 diabetes. The current models for screening of monogenic diabetes were also discussed.

The effects of radiation on miRNA-21 expression and cell biology of salivary gland adenoid cystic carcinoma cells / 实用口腔医学杂志

Objective:To explore the effects of radiation on miRNA-21 expression and the biology of human salivary gland adenoid cystic carcinoma cell lines(SACC-83,SACC-LM).Methods:In vitro cultured SACC-83 and SACC-LM cells were radiated by Varian 23 EX with the dose of 0(control),2,6 and 10 Gy respectively.Cell proliferation,apoptosis and miRNA-21 expression were observed by CCK-8 assay,flow cytometry and qRT-PCR methods respectively.Results:48 h after radiation the proliferation ability of SACC-LM cells decreased with the increasing dose of radiation(F =1 321.646,P =0.000),so did the miRNA-21 expression (F =177.964,P =0.011).However,the early apoptosis rate (F =354.484,P =0.039),the later apoptosis rate (F =254.278,P =0.042) and heteroploid ratio(F =1 562.991,P =0.001) increased with the increasing dose of radiation.In SACC-83 cell line 48 h after 6 Gy radiation the cell proliferation(F =1 537.214,P =0.013) and the miRNA-21 expression(F =134.868,P =0.017) were lower than that of other radiation doses.Moreover,the early apoptosis rate (F =88.579,P =0.006),the late apoptosis rate (F =1 391.345,P =0.033),heteroploid ratio(F =250.461,P =0.004) were higher than that of other radiation doses.Conclusion:The miRNA-21 expression in SACC-LM and SACC-83 cell lines is conversely associated with the radiation sensitivity.