Objective To probe into the strategies for improving the accessibility to orphan drugs for patients of rare diseases in China. Methods Analysis of typical cases of orphan drug use in recent years in China, interviews of hospital administrators and clinical doctors, and analysis of the present health insurance policies in China for orphan drugs, definition of the concept of drug accessibility, clarification of the factors hindering orphan drug accessibility. Results Four factors are found to hinder orphan drug accessibility in such aspects of science and technology, supply, information transfer and medical assurance in China's medicine and healthcare system. These subjective and objective factors affect drug accessibility of the patients of rare diseases, denying them of drug accessibility, of drug use in time, and of affordability of such drugs. Conclusion To raise the orphan drug accessibility in China, it is necessary to define basic concepts and incentive mechanism of rare diseases and orphan drug, design and raise the response mechanism of the medicine and health system in orphan drug supply, build a three dimensional cooperation model between such parties as the government, enterprise and patient, and reduce patients' economic burdern.

Background Primary open angle glaucoma(POAG) is a common type of glaucoma.It has been well known that a lot of factors are associated with the pathogenesis of POAG,but genetic factor plays a critical role.Optineurin (OPTN)gene is the second confirmed POAG-relevant gene,and screening its mutation in the population contribute to the deeply understanding of the pathogenesis of POAG.Objective The present study was to investigate the association between sequence variants of OPTN gene and POAG in Chinese patients.Methods DNA was isolated from peripheral blood of 100 POAG patients and 60 cataract individuals.The coding exons of OPTN gene were amplified by PCR.PCR products were then sequenced directly to assay the variants and contrasted to original sequence in GenBank.This study was approved by the Ethical Committee of Shenzhen Eye Hospital.All the subjects signed the written inform consent.Results A case-controlled study was designed.The mean intraocular pressure (IOP)of the POAG patients was (29.0±6.5)mmHg,and that of the cataract patients was (13.7 ±2.4)mmHg.Variant of synonymous coding T34T was found in 60 POAG patients.Genetic type frequencies of AA,GA and GG were 10％,50％ and 40％ in the POAG patients,and those of cataract patients were 0,25％ and 75％ respectively,showing significant difference between them (x2 =20.416,P =0.000).The allele frequencies of A and G were 35％ and 65％ in the POAG patients,and those of cataract patients were 12.5％ and 87.5％,with a statistically significant difference (x2 ＝ 19.464,P =0.000).The sequence changes of non-synonymous coding variants (M98K,691-692insA G,R545Q,H486R) were also found in both POAG and cataract patients,but no significant difference was seen in the genetype and allele frequencies between two groups (P＞0.05).Conclusions No obvious association of OPTN gene variant with POAG is verified.The variant of T34T maybe increase the risk of POAG.

Objective To explore the relationship between KCNJ11-E23K polymorphism and essential hypertension (EH) in Kazakh from Xinjiang. Methods PCR-RFLP method was used to test KCNJ11-E23K genotypes of Kazakh from Xinjiang,including 237 EH patients and 221 normotension (NT). Logistic regression analysis was used to analyze the risk factors associated with EH. Results The frequencies of KCNJ11-E23K genotype (EE and (EK + KK)) and allele (E and K) were 34.18%, 65.82%, 61.60% and 38.40%respectively in EH group. There was a significant difference between two groups (P < 0.05). Weight and EE genotype were risk factors affecting EH in Kazakh from Xinjiang. Individual who carried EE genotype and allele E were 2.501 and 1.388 times than (EK + KK) and allele K suffered from EH respectively. Conclusion KCNJ11-E23K polymorphism was associated with EH in Kazakh from Xinjiang.

Objective:To investigate the changes and clinical significance of prothrombin time (PT) during chemotherapy for non-Hodgkin lymphoma (NHL) in high-altitude area and low-altitude area, and understand the relationship between NHL and PT.Methods:From August 2018 to September 2019, data of 68 cases of NHL patients in the Fifth People′s Hospital of Qinghai Province in the high-altitude area (average altitude: 2 261 m) and the Tianjin Fourth Central Hospital in the low-altitude area (average altitude: 1.3 m) were collected and compared with those of 20 subjects from health examination. The patients were divided into groups according to the NHL classification, stage and grade (international prognostic index, IPI score), the PT at initial diagnosis was compared. The PT changes before and after chemotherapy (6 cycles) were compared between high-altitude area and low-altitude area.Results:The PT in healthy subjects and PT at initial diagnosis in NHL patients in low-altitude area were lower than those in high-altitude area: (12.3 ± 1.3) s vs. (13.4 ± 1.9) s, (12.2 ± 0.8) s vs. (13.7 ± 1.1) s, and there was statistical difference ( P<0.05). There was no significant difference between NHL patients and healthy patients in the same area ( P>0.05). In NHL patients in high-altitude area and low-altitude area, PT of different NHL classification, stage and grade were statistically significant ( t = 4.611, 8.202, 6.893, 5.345, 3.121, 5.397, 2.838 and 3.720, P<0.05). In the same altitude area, NHL classification, stage and grade of NHL patients had no significant effect on PT, and there were no statistically significant difference ( P> 0.05); in NHL patients, there were statistically significant differences in PT before and after chemotherapy between high-altitude area and low-altitude area: (13.7 ± 1.1) s vs. (12.2 ± 0.8) s, (13.4 ± 1.4) s vs. (12.0 ± 1.3) s, and there were statistical differences ( P<0.05), and no significant changes in PT before and after chemotherapy in the same altitude area ( t = 1.377 and -1.222, P>0.05). Conclusions:PT of NHL patients in low-altitude area is lower than that in high-altitude area, and there is no significant correlation with NHL classification, stage, grade and chemotherapy in NHL patients.

To establish and manage of multicentral collection bio-sample banks of malignant tumors from digestive system, the paper designed a multicentral management system, established the standard operation procedures (SOPs) and leaded ten hospitals nationwide to collect tumor samples. The biobank has been established for half a year, and has collected 695 samples from patients with digestive system malignant tumor. The clinical data is full and complete, labeled in a unified way and classified to be managed. The clinical and molecular biology researches were based on the biobank, and obtained achievements. The biobank provides a research platform for malignant tumor of digestive system from different regions and of different types.
Biological Specimen Banks ; organization & administration ; Digestive System ; pathology ; Humans ; Neoplasms ; Specimen Handling

ObjectiveTo study the effect of music exposure in juvenile stage on anxiety-like behavior and fear extinction in adult rats.Methods4 broods of two-week-old healthy Sprague-Dawleyda rats were separated into two groups randomly.The music groups were exposed to music from 20:00 to 22:00 for 21 consecutive days.When the rats were 5 weeks old,they were caged by sex,with 8 male rats and 6 female rats in each group.When the rats were 8 weeks old,the two groups were assessed in the elevated-plus maze test,the open-field test,trained and assessed by the conditional fear training and fear extinction training.ResultsIn the elevated-plus maze test:Prior to the foot shock,the percent of time spent in the open arms in the music group (female(7.07 ± 1.14)％,male (5.12 ± 1.95 ) ％ ) exhibited no significant difference (P＞ 0.05 ) comparing with the rats in the control group (female (4.65 ± 0.86 ) ％,male ( 4.86 ± 1.95 ) ％ ).After the foot shock,the percent of time spent in the open arms in the music group ( female ( 8.63 ± 3.35 ) ％,male ( 7.79 ± 2.49 ) ％ ) increased comparing to the control group (female(1.48 ±0.11)％,male(4.29 ± 1.68)％) (P＜0.01). In the open-field test:prior to the foot shock,the percent of time spent in the center zone of the music group ( female (6.16 ± 2.17 ) ％,male (6.25 ±3.47) ％ ) exhibited no significant difference (P＞ 0.05) comparing with the rats in control group (female(5.27 ±1.95 )％,male (6.22 ± 3.13 )％ ).After the foot shock,the percent of time spent in the center zone in the music group (female(8.52 ± 1.93) ％,male (6.95 ± 2.46 ) ％ ) was larger than the control group ( female ( 3.47 ±0.93 ) ％,male (4.36 ± 2.22 ) ％ ) (P ＜ 0.05 ).The fear extinction training showed that the percent of freezing time exhibited no significant difference between the male and female rats of the music group and control group in the first block of the first extinction training day and the percentage of freezing time of female rats in music group was significantly lower than that of female rats in control group on the third extinction training day.The percentage of freezing time of male rats in the music group was significantly lower than that of male rats in control group on the second and third training day.ConclusionMusic exposure in juvenile stage decreases the anxiety level after foot shock,and promotes the long-term fear extinction,while has no effect on the level of fear memory.

This study was aimed to investigate the effect ofDanlou pills on prevent atherosclerosis from hypercholesterolemia rabbit and its relationship with inflammatory factors as well as PI3K/AKT signal pathways. A total of 24 Japanese male white rabbits were randomly divided into the control group (CL), model group (M) and Danlou group (DL), with 8 in each group. Normal diet was given to CL rabbits. High-fat diet was given to rabbits in other groups to establish the atherosclerosis model. Danlou pills (0.5 g·kg-1·d-1) were also given to DL rabbits. Rabbits were sacrificed after 9-week medication. The contents of blood lipid, TNF-α and IL-6 were detected. HE staining was used in the observation of histological changes in the aorta. Western blot was used to observe PI3K and p-AKT expression in the aorta. The results showed that compared with CL, the contents of TG, TC, LDL, IL-6 and TNF-α were significantly increased in M (P < 0.01); PI3K and p-AKT expression in the aorta were significantly decreased (P < 0.01). Compared with M, blood lipid, IL-6 and TNF-α were significantly reduced in DL (P < 0.05, orP < 0.01); PI3K and p-AKT expression were significantly increased (P < 0.01). It was concluded thatDanlou pills had prevention effects on atherosclerosis through reducing blood lipid and inflammatory factors. The action mechanism maybe related to the activation of PI3K/AKT signal pathways.

To analyze the causes and treatments of high intraocular pressure ( > 21mmHg ) of angle - closure glaucoma underwent compound trabeculectomy 1mo after surgery.
●METHODS: This was a retrospective study of our hospital, from March 2010 to March 2013. Thirty-four (38 eyes) of angle-closure glaucoma patients were collected, who underwent compound trabeculectomy with high intraocular pressure ( > 21mmHg) 1mo after operation. We analyzed the causes and summarized the treatments.
●RESULTS:The causes which lead to early postoperative high intraocular pressure included malignant glaucoma (9 eyes of 8 cases), blood clot and connective tissue block under the scleral flap (15 eyes of 13 cases), hyphema after surgery(5 eyes of 5 cases), sclera flap incision was incarcerated with iris tissue ( 3 eyes of 3 cases ), preoperative high intraocular pressure for a long time(5 eyes of 4 cases), 1 eye of 1 case for unknown reason. After proper treatments, intraocular pressures of all patients were bellowed 21mmHg.
● CONCLUSlON: Early postoperative high intraocular pressure of angle - closure glaucoma underwent compound trabeculectomy is caused by various factors, and the early prevention and timely treatment are key points of a successful operation.

Objective To evaluate the difference of internal diameter of bronchial artery in big lung cancer,small lung cancer,and normal lung with multiple slice CT.Methods MSCT angiographies of 44 patients with lung cancer confirmed by pathology were retrospectively analyzed,and 29 patients were with big lung cancer(≥3 cm)and 15 patients with small lung cancer(

Brain Stem/pathology* ; Death, Sudden/etiology* ; Fatal Outcome ; Humans ; Intracranial Hemorrhages/mortality* ; Leukemia/pathology*