Rare diseases, also known as "orphan diseases", refer to diseases with very low incidence. Countries and regions define rare diseases according to epidemiological standards, economic standards of rare drugs and disease severity. The World Health Organization (WHO) has suggested the prevalence rate of less than 6.5 to 10 per 10 000 people to define rare diseases. In May 2018, "China's First List of Rare Diseases" was released, including 121 rare diseases. Most rare diseases are hereditary diseases with early onset, severe disease, and poor prognosis. About 75% of rare genetic diseases occur in the neonatal period or childhood, which are important part of human birth defects and brings a huge burden to society and families. The effective prevention and treatment of rare diseases is one of the important goals of building a "Healthy China". With the development of molecular biology technology and the continuous research and development of advanced medical products in the field of gene therapy, the level of clinical diagnosis and treatment of rare diseases has risen to a new level, which provides a possibility for the cure of some rare diseases. In China, most rare diseases rely on imported drugs, which cost a lot and bring heavy economic burden to patients. Improving the medical insurance system for rare diseases has become a difficult point in the current medical reform. This paper mainly discusses the definition of rare diseases, the research status, efforts and future development direction of rare diseases in China, in order to deepen the understanding and response of medical workers and the whole society to rare diseases.

A total of 3 177 HIV/AIDS patients were admitted in Beijing Ditan Hospital,Capital Medical University from January 2009 to December 2015,among whom pneumothorax developed in 50 cases with a morbidity rate of 1.6％.Twenty six HIV/AIDS patients with pneumothorax died with a case fatality rate of 52.0％ (26/50).Pneunocystis jirovecii pneumonia (PCP) was the dominant lung disease related to pneumothorax (37/50).Risk factors of pneumothorax were assessed among 40 HIV/AIDS patients with PCP undergoing mechanical ventilation in ICU,including 20 cases with pneumothorax and 20 cases without pneumothorac.Multivariate logistic regression analysis revealed that positive end-expiratory pressure (PEEP) was independent risk factor of pneumothorax in HIV/AIDS patients with PCP under mechanical ventilation (OR =2.490,95 ％ CI:1.302-4.763,P =0.01).

Objective To evaluate the risk factors of pediatric indirect inguinal hernia. Methods A hospital-based case-control study was performed. One hundred and three indirect inguinal hernia cases with two -fold controls (206 cases) were enrolled. Parents were interviewed for their charateristics before and during conception. Unconditional logistic regression model was used for single factor and multivariate analysis to estimate odds ratios and their 95% confidence intervals by SAS 6.12 computer software. Results There were more males than females in the overall identified indirect inguinal hernia(Ratio=93.20%, P

Objective To study the pathogenic molecular mechanism of H.pylori through analyzing its effect of on MMP-9 expression. Methods BGC-823 cells were cocultured with ATCC49503(CagA +)and HP 030811 (CagA -) H.pylori strains respectively, then the total cellelar RNA was extracted. The MMP-9 mRNA expression in BGC-823 cells, 9 cases of H.pylori-positive and 9 cases of H.pylori-negative gastric ulcer biopsy tissues was detected by RT-PCR. The MMP-9 protein expression on the paraffin-imbedded tissue sections of 17 cases of H.pylori-positive and 14 cases of H.pylori-negative gastric ulcer tissues was detected with immunohistochemical technique, and was quantified by image quantitative analysis. Results H.pylori induced MMP-9 expression in BGC-823, and the level of MMP-9 expression induced by CagA -postive H.pylori strain was higher than that by CagA -negative one. MMP-9 expression level was higher in the H.pylori-positive gastric ulcer tissues than that in the H.pylori-negative ones. Conclusion H.pylori-induced MMP-9 expression may play an important role in gastric ulcer formation and gastric carcinogenesis.

Objective To study the correlations between meta moods and clinical behavior of junior college nursing students and provide a scientific basis for improving students' ability of clinical practice.Method The trait meta mood scale(TMMS)and nursing students' clinical practice evaluation scale were used in the study among 120 junior college nursing students.Results The total scores on TMMS and the clinical behavior were(3.45±0.43)and(2.96±0.39),respectively.The scores on the three dimensions of meta moods were positively correlated with 7 dimensions of clinical behaviors and the total score(P<0.01 or P<0.05).Conclusions The meta moods of college nursing students are at high level and their clinical behaviors are at medium level.Teachers and nursing administrators should help students regulate and manage their emotions in order to promote their ability of clinical practice.

Objective To investigate whether iceberg phenomenon of celiac disease(gluten-sensitive enterpathy,GSE) exists among the people of China,and study on the levels of anti endomysial antibody(AEA)IgA and IgG,which provide the foundation for studying functional genome of GSE.Methods One hundred and thirty-six cases liability crowd,which showed part symptoms of GSE,were selected as case group and 50 cases of normal were selected as control group.Enzyme-linked immunosorbent assay was used to detect the level of 2 groups and positive rate of AEA was compared between 2 groups.Results The levels of AEA IgA and IgG in case group(17.69?2.97,15.23?2.36)were significantly higher than those of control group(11.65?2.75,12.25?1.86),especially 2 strong positive cases were found in case group.Conclusion Iceberg phenomenon of celiac disease exists in the people of China,which means many celiac disease patients have not been diagnosed and it need us far more research.

BACKGROUND:Very smal embryonic-like stem cells are a kind of non-hemopoietic stem cells, which have similar biological characteristics to embryonic stem cells. But the method of its culture and in vitro proliferation is rarely reported. Studies have speculated that human embryonic fibroblasts can provide a good microenvironment for in vitro culture and proliferation of very smal embryonic-like stem cells.
OBJECTIVE:To isolate and cultivate human embryonic fibroblasts derived from human embryonic trunks and to establish a feeder layer culture system of human embryonic fibroblasts for culturing very smal embryonic-like stem cells derived from human bone marrow.
METHODS:The human embryonic fibroblasts were isolated from the subcutaneous connective tissue of human embryos at pregnant 5-9 weeks using trypsin digestion method. Different concentrations of mitomycin C were used to pretreat feeder layers, which were used for cultivating very smal embryonic-like stem cells derived from human bone marrow. The effects of human embryonic fibroblasts and feeder layers were assessed by cel morphology and growth curves.
RESULTS AND CONCLUSION:The human embryonic fibroblasts were successful y isolated and cultivated from human embryos, and they could be passaged beyond the 24th generation. The biologic characteristics of the cells had no changes after passage and cryopreservation. The optimal concentration of mytomcin C to inhibit proliferation of human embryonic fibroblasts was l2 mg/L for 3 hours. The human embryonic fibroblasts derived from human embryos are successful y isolated and cultivated and to produce feeder layers for very smal embryonic-like stem cells derived from human bone marrow.

Objective To prepare the PSMA7 hybridoma cell lines using classical hybridoma technique and to perform purification and elementary identification of the monoclonal antibodies(McAbs)against PSMA7 antigen for further study.Methods BALB/c mice were immunized with purified recombinant PSMA7 protein.Once the antibody titer of blood taken from mouse tail reached 1∶6 400,a cell fusion was performed between mouse splenic cells and myeloma cells(Sp2/0),and then the hybridoma cell lines secreting monoclonal antibodies against PSMA7 antigen were screened by indirect enzyme linked immunosorbent assay(ELISA).The immunoglobulin subtypes and titer of the monoclonal antibodies against PSMA7 antigen were identified and measured by Western blot analysis and enzyme linked immunosorbent assay,respectively.Results After cell fusion and subcloning,two hybridoma cell lines that stably secreted monoclonal antibodies against PSMA7 antigen were successfully obtained:B013 and B001,which belong to the subtypes of IgG1.The antibody titers in the hybridoma culture supernatant were 1∶128 and 1∶256,and those in the ascites fluid were 1∶25 600 and 1∶32 000,respectively.Western blot analysis and immunohistochemistry showed that the two antibodies can specifically bind with PSMA7 antigen derived from human eucaryotic cells or tissue.Conclusions Two monoclonal antibodies against PSMA7 antigen with high titers and specificity have been successfully prepared.These antibodies can be used for the identification of PSMA7 protein,and may be a useful tool for studying the biological properties of PSMA7 protein.

Objective To investigate the application of a new type internal anastomotic appliance of pouch pliers in the retention of anus operation of mesal,low rectal carcinoma.Methods The data of 65 patients with mesal,low rectal carcinoma with the technique of the anal retention using KYGW type anastomotic appliance of pouch pliers were reviewed and analyzed retrospectively.Results 65 patients were coincided success only one time. Anastomotic fistula occurred after operation in 1 case,being cured and discharged at last,no anastomotic stricture. Conclusion The internal anastomotic appliance of pouch pliers in the anal retention of mesal-low rectal carcinoma is an efficient method with better cost-effectiveness and fewer complications,which is easy to manipulate and popular- ize.

BACKGROUND: Antiviral drugs can reduce the incidence of early-onset cytomegalovirus(CMV)disease,but are associated with strong toxicity and the development of late-onset CMV disease.In order to prevent CMV disease better,cytotoxic T lymphocytes(CTL)may play a critical role in controlling CMV reactivation.Fluorescent HLA-peptide tetramers are used to monitor the recovery of CMV CTL in recipients of allogeneic transplants.OBJECTIVE: To explore the effect of HLA-peptide tetramers and adoptive immunotherapy in treating CMV disease.METHODS: A computer-based online search of Pubmed and Wanfang databases was performed for articles related to CTL detection,application of antiviral drugs and HLA-peptide tetramers,and adoptive immunotherapy with key words"HLA-peptide tetramers,cytomegalovirus,specific CTL,adoptive immunotherapy"in English and Chinese.Repetitive articles were excluded and 29 articles were included.RESULTS AND CONCLUSION: Adoptive immunotherapy with CMVs cytotoxic T cells as preemptive therapy is a very elegant strategy; however,generation of these cells is costly and time-consuming,and therefore the therapy is not available at every transplantation center.Magnetic selection of CMVs CD8+T cells from peripheral blood of CMV-seropositive donors by using HLA-peptide tetramers may be very hopeful,which simplifies adoptive immunotherapy.