The diagnosis and treatment resources for rare diseases in China are highly imbalanced. The basic diagnosis and treatment capabilities are weak, the diagnosis period for patients is long, and the rates of missed diagnosis and misdiagnosis are relatively high. The establishment of a hierarchical diagnosis and treatment system is the inevitable approach to enhancing the diagnosis and treatment standards of rare diseases. Currently, the implementation of the domestic hierarchical diagnosis and treatment system for rare diseases still confronts numerous challenges, such as ambiguous referral standards and processes of primary medical institutions, and ineffective information interaction among institutions at all levels. Thus, it is essential to facilitate high-level information construction for the hierarchical diagnosis and treatment of rare diseases. This paper explores the process of constructing a multidisciplinary joint remote diagnosis and treatment platform and a health management platform through informatization, with the hope of establishing two closed loops of digital diagnosis and treatment services and health follow-up management for patients with rare diseases, as well as achieving timely diagnosis and lifelong health management for patients. It integrates and optimizes auxiliary diagnostic tools, promotes the rapid dissemination of rare disease diagnosis and treatment experiences to the grassroots, enhances the information construction level of the hierarchical diagnosis and treatment system, and endeavors to address the practical predicament of weak diagnosis and treatment capabilities of rare diseases in grassroots medical institutions. Additionally, this paper proposes an essential approach for multi-dimensional independent innovation to guide the popularization of efficient and high-quality rare disease diagnosis and treatment services. By encompassing innovating the rare disease diagnosis and treatment collaboration network and multidisciplinary diagnosis and treatment model, facilitating the application of the latest biomedical and informatics technologies to the grassroots, and constructing a national intelligent data platform for rare disease innovation, a new model for rare disease services with Chinese characteristics will be established. This will significantly enhance the medical treatment level of rare diseases in China and strive for more benefits for patients.

Methods:Cultured human alveolar epithelial A549 cells were assigned into LPS group and blank control group. LPS group was stimulated with LPS and adenosine triphosphate to induce pyroptosis and inflammation. A549 cells were divided into 4 groups: miR-20a mimics group, mimics-negative control (NC) group, inhibitor group and inhibitor-NC group. MiRNA-20a mimics, mimics-NC, inhibitor, and inhibitor-NC were transfected respectively into A549 cells, and after 24 h, the cells were collected to verify transfection efficiency by qPCR. MiRNA-20a mimics and the constructed TLR4-3'UTR double luciferase reporter plasmid were co-transfected into A549 cells, and luciferase activity was analyzed. MiRNA-20a mimics/inhibitors were transfected into A549 cells, and then the cells were stimulated by LPS for 8 h followed by adenosine triphosphate for 30 min. QPCR, Western Blot and ELISA were used to detect the expression of GSDMD, inflammatory factors (ASC, NLRP3, Caspase-1, IL-1β) and Signaling molecules (TLR4、NF-κB) in A549 cells at mRNA level and protein level. Immunofluorescence was used to detect the expression of TLR4 in the A549 cells and NF-κB in the nucleus of A549 cells after transfecting with miRNA-20a mimics/inhibitor.Results:The mRNA and protein expression of pyroptosis marker molecule (GSDMD) and inflammatory factors (ASC, NLRP3, Caspase-1, IL-1β) in A549 cells stimulated with LPS were significantly higher than those in the blank control group, and the differences were statistically significant ( P<0.05). The expression of miRNA-20 in the mimics group was significantly higher than that in the mimic-NC group ( P<0.05), while the expression of miRNA-20a in the inhibitor group was lower than that in the inhibitor-NC group ( P<0.01). The double luciferase reporter gene experiment showed that the relative fluorescence value of the co-transfection group for TLR4-3'UTR-WT and miRNA-20a mimics was significantly lower than the co-transfection group for TLR4-3'UTR-WT and miRNA-20a mimics-NC ( P<0.05). The mRNA and protein levels of pyroptosis marker molecule (GSDMD) , inflammatory factors (ASC, NLRP3, Caspase-1, IL-1β) and signaling molecules (TLR4, NF-κB) were decreased in the mimics group compared to the mimics-NC group, and increased in inhibitor group compared to inhibitor-NC group. Conclusions:miRNA-20a may inhibit LPS-induced pyroptosis and inflammation of A549 cells via TLR4/NF-κB signal pathway.Objetive:To explore the potential role of miRNA-20a in lipopolysaccharide (LPS) induced pyroptosis and inflamation of human alveolar epithelial A549 cells and its regulation mechanisim.

The development of information technology in the medical industry is accelerating the construction of 3-level rehabilitation networks centering on community-based rehabilitation, which is based on the Internet and in combination with the Internet of things(IOT). A municipal rehabilitation hospital cooperated with the health centers of sub-district communities in the city to build a remote rehabilitation network based on IOT technology, for rehabilitation training of community stroke patients. The two sides worked out a cooperation scheme on project management, designed and built a remote community rehabilitation management model. Under the remote monitoring and equipment data IOT, the medical team of the municipal rehabilitation hospital could formulate the therapeutic plan according to the immediately obtained relevant functional evaluation data, and the medical team of the community health service center was responsible for the implementation of the plan. Fifty-three patients in the experimental group received the training of remote lower limb intelligent feedback system based on IOT together with routine rehabilitation training. After 8 weeks of treatment, the functional evaluation data of the two groups were improved in varying degrees( P< 0.05), but the improvement of the experimental group was significantly better than that of the control group( P < 0.05). Remote rehabilitation under the construction path of remote rehabilitation network based on IOT technology could significantly promote the improvement of post-functional rehabilitation of community stroke patients. This study can provide reference for the construction of three-level remote rehabilitation networks based on IOT and the implementation of home-based remote rehabilitation therapy in the future.

The 30th International Symposium on Amyotrophic Lateral Sclerosis-Motor Neuron Disease was held in Perth, Australia from December 4 to 6, 2019. This article mainly introduces the clinical research of this meeting, including epidemiology, non-motor symptoms, auxiliary examinations and biomarkers, etc., while the basic research includes genomics and genetics, protein metabolism abnormalities, neuroimmunity and inflammation, synapse pathology and preclinical treatment strategies,

Objective To compare the physical examination results of nephroptosis in the second stage and the final stage, to find the underlying reasons, and to explore better ways to detect nephroptosis.Methods A total of 1334 subjects participated in both the second stage and final stage of PLA air force medical selection of flying cadets, and physical examination results of both stages were compared.Results All the subjects recruited denied a history of abdominal pain or recurrent urinary tract infection, and urine tests were normal.The positive rate of nephroptosis in the second stage was 10.2%, compared to 5.5% in the final stage.The difference of physical examination results in the two stages was significant, and so was that of disqualification rates.Conclusion Results of physical examination of nephroptosis in the second stage are different from those in the final stage.It′s necessary to find better ways of detection of nephroptosis.

Objective To study the variability of oxygen saturation in intestinal tissue of preterm infants during erythrocyte infusion .Method Preterm infants aged over 5 days, hospitalized in our NICU from March 2016 to August 2016 were selected by computer random number generator . Near-infrared spectroscopy was applied to monitor splanchnic tissue oxygen saturation ( SrSO2 ) and cerebral tissue oxygen saturation(CrSO2)during erythrocyte transfusion.The duration of transfusion was 4 hours.The mean value and range of SrSO2 and CrSO2 during transfusion were analyzed.To analysis the average and variable range of SrSO2 and CrSO2 and to illuminate the correlation with post-conceptional age. Result A total of 34 premature infants were collected.The average of SrSO2 was (0.56 ±0.06) and the average of CrSO2 was (0.62 ±0.02) throughout transfusion, There was a significantly greater change in SrSO2 than in CrSO2 during the transfusion period (0.35 ±0.14 vs.0.18 ±0.09) (P<0.05).The changing range of CrSO2 was smaller as the post-conceptional age increased , and was significant different statistically ( P=0.006). While there was little change in the range of SrSO 2 (P=0.191).Conclusion The of SrSO2 change was more significant than CrSO 2 in preterm infants during erythrocyte transfusion , which may cause ischemia-reperfusion injury to the intestinal tissue .It should be more cautious to avoid transfusion-related necrotizing enterocolitis.

Objective To investigate the clinical efficacies of Milrinone on cardiac function and blood-gas analytic indices in elderly patients with chronic heart failure.Methods During January 2013 to December 2016,50 elderly patients with chronic congestive heart failure admitted into the First People's Hospital of Qingdao Economic and Technological Development Zone were randomly selected and divided into the observation group (n=25) and the control group (n=25).The control group was given conventional treatment including diuretics,ACEI/ARBs,vasodilators,β-adrenergic receptor inhibitors and digitalis drugs,as well as anti-infection,fluid intake treatment and inhibiting the excessive activation of nerve-endocrine system.And Milrinone was taken as add-on to the therapy of control group in observation group.The changes in cardiac function,blood-gas analysis indices and adverse reactions were compared between the two groups.Results The total improvement rate of cardiac function was significantly higher in the observation group than in control group (92.0％ vs.76.0 ％,x2 =5.446,P＜ 0.05).The cardiac function indices,blood-gas analysis index and the level of CRP were significantly improved after treatment versus before treatment in both groups (all P＜0.05).And these improvements were significantly more superior in observation group than in control group (P＜0.05).Conclusions Milrinone can significantly improve the clinical efficacies in elderly patients with chronic heart failure.It can also improve the blood-gas indices and alleviate clinical symptoms,which seems to deserve more clinical application and promotion.

Objective To investigate the effect of different medical standards for the urinary system on the enlistment of pilots between PLAAF and USAF , and offer support to amendment .Methods Data on pilots′final enlistment between 2012 and 2015 were analyzed , and results of physical examinations of the urinary system were compared according to differ -ent medical standards .Results One hundred and twenty teenagers enrolled in this examination were disqualifiied due to defects of the urinary system while 97 applicants were qualified after comprehensive assessment of the urinary system .The main problems with the urinary system that affected results of pilots′enlistment were nephroptosia , renal cyst , microscopic hematuria , renal calcified foci and calculus .Conclusion Medical standards for the urinary system are different between PLAAF and USAF, especially those for nephroptosia , renal cyst and microscopic hematuria .The medical standards directo-ry about the urinary system approved by USAF can serve as a reference during our revision of current medical enlistment standards.

Objective To determine whether the candidates who are disqualified because of arrhythmia during medical selection of flying cadets in China are qualified or not according to United States Air Force ( USAF ) Medical Standards Directory( MSD) , in order to raise suggestions on revising PLAAF medical selection of flying cadets.Methods ECG was performed on all candidates who participated in the final stage of medical selection of flying cadets, and they were considered qualified or not according to USAF MSD.Results Arrhythmia accounted for the largest proportion of cardiovascular diseases( CVDs) in PLAAF medical selection of flying cadets,the constituent ratios of CVDs from 2012 to 2015 were significant different (P<0.01).There were differences between the two countries and the outcome of 81.48%of the candidates disqualified for premature systole in PLAAF was unknown according to USAF MSD.Conclusion There are some differences in medical selection standards of flying cadets between PLAAF and USAF, and we could revise PLAAF standards with reference to USAF standards.

Objective:To analyze the distribution of UGT1A1 gene polymorphisms in Chinese Han patients with extensive-disease small cell lung cancer(ED-SCLC),and evaluate the correlation between UGT1A1 gene polymorphisms and toxicity and efficacy of irino-tecan(CPT-11) based regimen in the patients with ED-SCLC. Methods: The analysis of UGT1A1?28 and UGT1A1?6 gene poly-morphisms was performed in 67 patients with ED-SCLC admitted in our hospital from June 2011 to January 2013. The 67 cases with ED-SCLC treated with irinotecan(CPT-11) based regimen were enrolled to observe the adverse events and efficacy during the chemo-therapy, including objective responserate rate ( ORR) , progression free survival ( PFS) and overall survival ( OS) . The incidence of different genotypes was compared. Results:The distribution of UGT1A1 genotypes in the 67 patients was follows:UGT1A1?28 wild-type (WT) genotype TA6/6 (56, 83. 6%), heterozygous genotype TA6/7 (11, 16. 4%);UGT1A1?6 wild-type (WT) genotype G/G (45,67. 2%), heterozygous genotype G/A (22,32. 8%). No significant difference of PFS and OS was observed between the differ-ent genotypes. The incidence of grade 3 and 4 delayed diarrhea and neutropenia in the patients carrying UGT1A1?6 G/A was higher than that in those with WT genotype (36. 4% vs. 6. 6%, P<0. 05;27. 2% vs. 4. 4%, P<0. 05, respectively). The incidence of grade 3 and 4 thrombocytopenia in the patients carrying UGT1A1?28 TA6/7 was higher than that in those with WT genotype (27. 2%vs. 1. 8%, P<0. 05). The patients simultaneously carrying UGT1A1?28 TA6/7 and UGT1A1?6 G/A were prone to suffering 3 and 4 delayed diarrhea and neutropenia. Conclusion: UGT1A1 polymorphisms may predict the adverse events of CPT-11 in ED-SCLC, while can not predict the efficacy of CPT-11.