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.

Ras-related C3 botulinum toxin substrate 1 (Rac1), a member of the Rho GTPase family which plays important roles in dendritic spine morphology and plasticity, is a key regulator of cytoskeletal reorganization in dendrites and spines. Here, we investigated whether and how Rac1 modulates synaptic transmission in mouse retinal ganglion cells (RGCs) using selective conditional knockout of Rac1 (Rac1-cKO). Rac1-cKO significantly reduced the frequency of AMPA receptor-mediated miniature excitatory postsynaptic currents, while glycine/GABA receptor-mediated miniature inhibitory postsynaptic currents were not affected. Although the total GluA1 protein level was increased in Rac1-cKO mice, its expression in the membrane component was unchanged. Rac1-cKO did not affect spine-like branch density in single dendrites, but significantly reduced the dendritic complexity, which resulted in a decrease in the total number of dendritic spine-like branches. These results suggest that Rac1 selectively affects excitatory synaptic transmission in RGCs by modulating dendritic complexity.

Objective To explore the application effects of quality control circle (QCC) activity in reducing the peripherally inserted central venous catheters (PICC) maintenance missing rate of discharged tumor patients. Methods Firstly, QCC method was applied to set up the activity topic and carry out investigation of the status quo. Secondly, the targets were set up by analyzing the reasons for the missing of PICC maintenance of the discharged tumor patients. The appropriate measures were established and implemented by strengthening the maintenance point nurse PICC training, expanding the province's PICC maintenance network, enhancing patients' awareness for the importance of PICC maintenance, and the effects were evaluated in the end. Results The missing rate of the discharged tumor patients decreased from 40.00% to 10.92%. The target yield rate was 112.19% and the progressive rate was 78.70%. The number of the PICC maintenance network stations in the whole province increased from 21 to 96, and was constantly increasing. The pass rate of the maintenance increased from 76.02% to 96.00%. Patients and their families recognized these advances. Conclusions The QCC activity not only reduces the missing rate of PICC maintenance of the discharged tumor patients, enhances the percentage of the pass rate the maintenance, but also improves the QCC members' problem solving ability, sense of responsibility, cohesion and other comprehensive qualities.

Objective To observe the therapeutic effect of intravitreal lucentis injections combined with laser photocoagulation for Coats disease.Methods This was a retrospective case series study.From August 2012 to December 2015,18 cases (18 eyes) were diagnosed as Coats disease with macular edema by FFA and OCT.All patients were treated at baseline using intravitreal lucentis injections.One week later,photocoagulation was performed by the guiding of FFA.Follow-up treatment was performed as necessary.The primary BCVA and central macular thickness (CMT) was measured postoperatively.The follow-up time was 16-24 months (mean 18.8 months).Results The mean number of lucentis injections was 2.6,and the mean number of laser treatment sessions was 1.8.The mean preoperative BCVA was (0.81 ±0.28) LogMAR,while the final visit was (0.76 ± 0.37) LogMAR (P =0.396).In 3 patients (16.7 ％),BCVA had improved by more than 3 lines,and 13 patients (72.2％)showed stable BCVA (changes within 2 lines of visual acuity),while in 2 patients,BCVA decreased by more than 3 lines (11.1％).The mean CMT improved significantly from (341.11 ±67.97) μm preoperatively to (277.83 ±51.59) μm at the fmal visit (P =0.030).Final BCVA was significantly correlated with preoperative BCVA (r =0.817,P ＜0.001).The final BCVA of patients with subfoveal hard exudates preoperatively was significantly worse than that of patients without such exudates (P =0.044).Conclusion Intravitreal lucentis injection combined with laser photocoagulation may be an effective treatment for Coats disease.It may stablize the visual acuity,decrease the CMT of Coats disease.The final BCVA is associated with preoperative BCVA and occurrence of subfoveal hard exudates.

Objective To evaluate the clinical value and effect of biofeedback training therapy for functional constipation in elderly patients.Methods A total of 78 elderly patients with functional constipation were treated at the People's Hospital of Pudong New Area,and were divided randomly into two groups.The control group (n =39) received routine treatment plus oral polyethylene glycol,while the experimental group (n=39) received biofeedback training treatment in addition to what was offered to the control group.After treatment,constipation symptom scores,anorectal dynamic parameters and clinical effects were compared between the two groups.Results The scores on excrement characteristics,defecation difficulty,and time and frequency of defecation were better in the experimental group than those in the control group (t=5.670,4.740,4.170,5.530;P=0.016,0.034,0.039,0.022,respectively).The overall effectiveness rate was 94.9 ％ (37/39) in the experimental group,which was higher than that (71.8 ％,2 8/3 9) in the control group (x2 =4.493,P=0.030).Meanwhile,the levels of 3 SC and 10 SC in the two groups were higher than those before treatment,but the level of 10SR was lower than that before treatment (all P＜0.05).Moreover,improvement in 3SC,10SC and 10SR were more significant in the experiment group than in the control group (all P＜ 0.05).Conclusions Biofeedback training therapy is safe and effective for elderly patients with constipation to relieve constipation symptoms,enhance control of defecation and promote defecation.

Objective To investigate the clinical application and effect of pick-stab skill in eyebrow embroidery.Methods From July 2015 to January 2016,36 cases were selected to receive eyebrow embroidery with pick-stab skill in our department,including 1 male and 35 females.The cosmetic outcomes,complications and satisfaction rate were observed in these cases.Results In these 36 cases,14 cases were colored in one time,19 cases were colored twice,and 3 cases were more than 3 times.All patients were followed up for 6 months.The color of the eyebrow was natural,and the blue color was not existed.Conclusions The pick-stab skill in eyebrow embroidery is worthy in clinic with better cosmetic effect,higher success rate and safety.

Objective:To investigate the effectiveness of heart rate deceleration capacity (DC) measurement in predicting the car-diotoxicity of malignant tumor patients treated with epirubicin-based chemotherapy. Methods:The clinical medical records, including CK-MB and cTnI levels and dynamic electrocardiogram (ECG) parameters before and after each chemotherapy cycle, of 140 patients treated with epirubicin-based chemotherapy were analyzed. Patients were divided into the DC>4.5 ms group and the DC≤4.5 ms group based on the calculated DC values. The CK-MB and cTnI levels and the dynamic ECG parameters of the two groups were compared af-ter two and four cycles of chemotherapy. Results:Patients in the two groups exhibited no statistically significant difference in their rele-vant clinical and pathological data before receiving chemotherapy (P>0.05). However, after four cycles of chemotherapy, the DC≤4.5 ms group showed a significantly greater increase in serum CK-MB and cTnI concentrations over the pre-chemotherapy levels compared with the DC>4.5 ms group. After two and four cycles of chemotherapy, the DC≤4.5 ms group also exhibited a significantly greater in-crease in mean heart rate (beats/min) and supraventricular and ventricular arrhythmia counts (times/24 h) over the pre-chemotherapy values compared with the DC>4.5 ms group (P<0.05). After four cycles of chemotherapy, 23 cases showed abnormally elevated cTnI levels in the DC≤4.5 ms group. In this group, patients with elevated cTnI level exhibited no statistically significant difference in CK-MB and cTnI concentrations, mean heart rates, and supraventricular and ventricular arrhythmia counts compared with those with nor-mal cTnI level before chemotherapy (P>0.05). However, the DC values of patients with elevated cTnI were significantly lower than those with normal cTnI level (P<0.05). Conclusion:The risk of epirubicin-induced cardiotoxicity increased with decrease in DC value. The DC test was shown to be an effective predictor of the risk of epirubicin-induced cardiotoxicity.

Objective:To investigate the KRAS gene mutation features in lung and gastric cancers and their relationship with clinicopathologic characteristics. Methods:A total of 128 lung cancer and 115 gastric cancer patients were included. Polymerase chain reaction amplification and DNA sequencing were conducted to detect mutations in exon 2 of the KRAS gene. Results:The mutation frequency of KRAS was different in lung and gastric cancers;however, it did not show any statistical significance (6.3%vs. 4.3%, P>0.05). The KRAS codon 12 gene mutation ranks the first in both types of cancer. No significant correlation was observed between the prevalence of KRAS mutations and patient's age and gender. KRAS gene mutation rate was higher in lung adenocarcinoma than in non-adenocarcinoma, such as squamous cancer (10.7%vs. 0%, P<0.05). Conclusion:No correlation was found between the KRAS gene mutation and the sex and age of lung and gastric cancer patients in Jiangsu Province. The rate of KRAS mutation was low. KRAS gene mutation rate was relatively higher in lung adenocarcinoma patients;thus, the mutation status of the KRAS gene should be evaluated be-fore undergoing EGFR-TKI therapy.

Objective To explore the impact of rituximab on Th17 cells and related cytokines in patients with diffuse large B-cell lymphoma (DLBCL) in vitro and its significance.Methods 20 cases of DLBCL untreated patients and 20 healthy subjects were enrolled in the name of DLBCL group and health control group, respectively.4 peripheral blood samples were collected from every case to separate peripheral blood mononuclear cells (PBMCs), which were assigned to 4 subgroups according to different culture conditions: blank subgroup(subgroup A), rituximab subgroup (subgroup B), rituximab and serum subgroup (subgroup C) and polarization subgroup (subgroup D) (added IL-6 and TGF-β).After cultured in vitro, the percentage of Th17 cells in each subgroup was tested by flow cytometry, and the cytokine IL-17 in the abovementioned culture fluid was measured by enzyme-linked immunosorbent assay (ELISA).Results In health control group, the percentage of Th17 cells and the level of IL-17 in subgroup D [(17.12 ± 4.90) ％ and (45.735±10.012) pg/ml] were significantly higher than those in subgroup A, B, C (P ＜ 0.05), and there was no difference in each other subgroup A, B, C (P ＞ 0.05).The percentage of Th17 cells and the level of IL-17 in the DLBCL subgroup A were significantly lower than those in health control subgroup A [(0.69±0.24) ％ and (6.012±1.312) pg/ml vs (2.43±0.61) ％ and (8.217±1.681) pg/ml (P ＜ 0.05)].In DLBCL group, after cultured with rituximab, the percentages of Th17 cells in subgroup B, C, D were (2.34±0.48) ％, (2.31±0.53) ％ and (16.92±4.81) ％, and the levels of IL-17 were (7.944±1.538) pg/ml, (7.957±1.533) pg/ml and (44.417±9.881) pg/ml, respectively, which were all significantly higher than those in subgroup A.Besides, the percentage of Th17 cells and the level of IL-17 in DLBCL subgroup D were significantly higher than those in subgroup B, C (P ＜ 0.05), while there was no difference between subgroup B and subgroup C.Conclusion Experiments in vitro confirmed that the percentage of Th17 cells in PBMCs of DLBCL patients was lower than that in healthy persons, and rituximab could elevate the percentage of Th17 cells in PBMCs of DLBCL patients.

OBJECTIVETo assess the association of genetic polymorphisms of mitogen-activated protein kinase activated protein kinase 2 gene (MK2) and zinc finger protein 36 gene (ZFP36) with high density lipoprotein cholesterol (HDL-C) in Xinjiang Urgur population.

METHODSNine hundred thirty Uygur individuals were randomly recruited from Hetian area. Single nucleotide polymorphisms (SNP) in MK2 gene (rs44890 and rs45514798) and ZFP36 gene (rs251864 and rs3746083) were determined with Taqman-PCR. All subjects were investigated with questionnaire, physical examination and measurement of lipid levels and plasma tumor necrosis factor-alpha.

RESULTS(1)In Uygur men younger than 50 years old, SNP rs45514798 was associated with HDL-C [dominant model P=0.054, OR(95%CI)0.261(0.082-0.833) after age, smoking, drinking, abdominal circumference, waist/hip ratio and body mass index and tumor necrosis factor were controlled]. (2) For males younger than 50 years old, the concentration of total cholesterol, HDL-C, low density lipoprotein cholesterol were different in dominant model of rs45514798(P< 0.05). Female: total cholesterol, low density lipoprotein cholesterol were different in dominant model of rs45514798(P< 0.05). (3) The distribution of genotype of ZFP36 gene did not differ significantly between the low HDL-C groups and the control group.

CONCLUSIONMK2 gene rs45514798 polymorphisms may be associated with HDL-C in Uygur men younger than 50 years old from Hetian area of Xinjiang. ZFP36 gene is not associated with HDL-C in Uygur people from Xinjiang.

Adult ; Age Factors ; Aged ; Base Sequence ; China ; ethnology ; Cholesterol, HDL ; blood ; Female ; Genetic Association Studies ; Genotype ; Humans ; Intracellular Signaling Peptides and Proteins ; genetics ; Male ; Middle Aged ; Phenotype ; Polymorphism, Single Nucleotide ; Protein-Serine-Threonine Kinases ; genetics ; Sex Factors ; Tristetraprolin ; genetics