Objective To analyze the expression of apoptosis-related genes of retinal blood vessel in early diabetic rats by gene chip technology. Methods To make diabetic rat model by intraperitoneal injection of streptozotocin (STZ). On the 6th week after blood pressure increased, 10 rats were executed in Diabetic group and normal control group respectively. 20 retinal blood vessels were extracted and the RNA was isolated. The probe was made of alpha;-32 P-deoxyadenosine triphosphate (dATP)-labeled sample which hybridized 1176 nylon chips, and then analyzed by software. Three different expression genes were selected to verify by reverse transcription polymerase chain reaction (RT-PCR). Results On the 6th week, 136 （11.5％） genes were differentially expressed ［up-regulated genes were 90(7.6%), down-regulated genes were 46(3.9%)］in diabetic group. These genes involved into different groups according to their function. Especially in 72 apoptosis-related genes, 15 genes were differentially expressed. The up-regulated genes were some TNF receptor family members such as TNFRSF12, TRAIL, TNFRSF9, FADD；Bcl-2 family members such as bcl-w, bax, bak1 and AKT. The down-regulated genes were FAF1 which related to fas. Conclusions The expression of retinal vascular gene in early diabetic rats has been changed complicatedly. In particular, the multiple apoptosis-related genes have been changed in early diabetic, and most of them are at the upstream of apoptosis pathway. These findings indicate that the development of diabetic retinopathy is associated with multiple signaling pathways leading to apoptosis, while the alterations on the level of molecular biochemistry are still limited in apoptosis induction period. （Chin J Ocul Fundus Dis，2008，24：244-248）
PURPOSE:To investigate the status and detailed structure of Rb gene in primary tumors and somatic cells of patients with retinoblastoma. To identify the character, origin and transmission of oncogenie point mutations. METHODS:DNA hybridization,SSCP analysis and PCR-associated direct sequencing. RESULTS:Among 108 RB patients examined 80 cases were found to have subtle alterations affecting Rb locus,including 44 cases with homozygous Rb point mutations, 20 cases with two independent heterozygous Rb point mutations, 16 cases with heterozygous mutations involved in one allele of Rb gene. Majority of bilateral RB patients and a small fraction of unilateral RB patients were detected to have a germline mutation. In addition the higher frequency of new germline mutation and parental origin of mutation were observed. CONCLUSION :Rb gene is closely associated with retinoblastoma. Two mutation events and resulting inaetivations of both Rb alleles are required for RB tumorigenesis. Based on our own data,the first event is exclusively point mutation. As for the second event,LOH accounts for two third of cases,point mutation for one third of cases. （Chin J Ocul Fundus Dis,1997,13: 12- 16）
ObjectiveTo identify the pathogenic mutation in a three generation Chinese family with low penetrance retinoblastoma (RB). Methods8 from 9 family members received complete ophthalmic examinations. DNA was extracted from 6 family members. Using exon combined target region capture sequencing chip to screen the candidate disease-causing mutations. Sanger sequencing were used to confirm the disease-causing mutation. ResultsAmong 9 family members, the proband (Ⅲ2) was bilateral RB, Ⅲ1 was unilateral RB, Ⅲ3 was dead for bilateral RB. Normal fundus were observed in the left eye ofⅢ1 and the eyes of other family members except the proband. Sequence analysis of RB1 gene revealed a missense mutation c.1981C > T (p.Arg661Trp) in the proband and two carriers (Ⅱ2, Ⅱ3), but not in the two normal subjects (Ⅱ1, Ⅱ4). We suspect that the RB penetrance in the family was 50%. ConclusionsThere is a missense mutation c.1981C > T in a Chinese family with low penetrance RB. The RB penetrance is 50%.
Purpose To identify the expression of alternatively spliced mRNA isoforms of the NMDA-R1 in the visual cortex of strabismic cats. Methods Two pai rs of normal and strabismic cats were used．The amblyopic cats had been made monocularly esotropic (by tenotomy) at the age of weeks，resulting in behavioral am blyopia．Animals were sacrificed about 6 months by intraperitoneal administration of Nembutal．Cryostat sections of fresh，frozen central visual cortex of the ats were cut to 20 micron thickness．A series of digoxygenin-labelled oligonucle otide probes basing on the human gene sequence were used for ISH．Control probes included sense oligonucleotides and short segment probes which were adjacent to ，but did not，span the splice junctions．A computer-assisted systematic morphometric ounting procedure was used to enumerate hybridising cells． Results The number of positive cells expressing NMDA-R1 mRNA in t he strabismic amblyopic cats was decreased，notably in layer IV of visual cortex (P＜0．0001)．The pattern of isoform expression varied between normal and strabismic amblyopic cats with decreased numbers of 1-a，1- b and 1-1 isoforms and apparently increased expression of 1-3 P ＜0．0001)，whereas no significant difference was found for the 1-2 and 1-4 isoforms (P＞0．05)． Conclusion Transcriptional inhibition of NMDA-R1 mRNA and of specifie isoforms may underlie the change in receptor expression．Alternatively，preferentialloss of neurones bearing particular NMDA-R1 isoforms and compensation with a proportional increase in cells expressing other isoforms may occurr during the critical period of visual plasticity． (Chin J Ocul Fundus Dis，2000，16：71-138)
ObjectiveIn light of the comprehensively implemented reform of medical insurance payments, this study analyzed the impact of the payment intervention and COVID-19 pandemic on hospitalization expenses for identical diseases between traditional Chinese medicine (TCM) and Western medicine hospitals, to provide evidence to promote high-quality coordinated development of hospitals and insurance while reducing patient load. MethodsFrom January 2014 to December 2020, we gathered data including 9 900 individual medical records of woman-related malignant tumors (WMT) from all 23 public hospitals in a district of Shanghai. We developed an interrupted time-series analysis model based on the above two interventions, to compare the inpatient average per-time expenses between different hospitals and different groups. ResultsThe average per-time expenses of WMT in Western hospitals changed from rising to declining after the policy intervention, and increased again during the pandemic. In TCM hospitals, the expenses continued to increase and fluctuated after the pandemic. ConclusionThe policy intervention has achieved a good effect on controlling the cost of Western hospitals, rather than the significant increase in TCM hospitals. Meanwhile, the COVID-19 pandemic has had a significant impact on hospitalization expenses. It’s urgent to develop a payment model that fits the development and characteristics of TCM, to control the unreasonable growth of expenses. Moreover, the financial compensation methods and supervision mechanism of public hospitals should be improved to effectively resist the threat of public health emergencies for the development of hospitals and the legitimate rights of patients.
The interrupted time series analysis was used to evaluate the incentive effect of the management methods of the SCI thesis fund for scientific research in West China Hospital of Sichuan University. We found an increase in number of the SCI papers and the growth rate after the adoption of scientific research incentive measures, indicating that the management methods of the SCI thesis fund had the incentive effect of scientific research. The interrupted time series analysis could be used in the incentive analysis of scientific research.
Objective To explore the impact of diagnosis-related group (DRG) payment method reform under total amount control on neurology and neurosurgery departments. Methods The DRG grouping data of the Department of Neurology and the Department of Neurosurgery of Panzhihua Central Hospital from January 2018 to December 2020 were collected, and the mature DRG evaluation indexes in China were selected. Using the interrupt time series analysis method, the DRG-related indexes of the two departments before and after the introduction of the performance appraisal plan in July 2019 were compared, to evaluate the intervention effects on the two departments. Results Both neurology and neurosurgery departments showed a slow downward trend in the overall medical service capacity under the DRG payment. The efficiency of medical services showed a slow upward trend and the consumption of medical expenses showed a slow downward trend in the Department of Neurology, while the efficiency of medical services showed a slow downward trend and the consumption of medical expenses showed a slow upward trend in the Department of Neurosurgery. According to the results of interrupt time series analysis, in the Department of Neurosurgery, the total weight showed a significant downward trend before intervention (β1=?5.526, P=0.003), and the downward trend became sluggish after intervention, with a statistically significant slope difference before and after intervention (β3=4.546, P=0.047); the case-mix index showed a downward trend before intervention (β1=?0.050, P<0.001), and no obvious trend after intervention, with a statistically significant slope difference before and after intervention (β3=0.052, P=0.001); the cost consumption index showed no obvious downward trend before intervention (β1=?0.006, P=0.258), and an upward trend after intervention, with a statistically significant slope difference before and after intervention (β3=0.027, P=0.032). The impact of this assessment plan on the Department of Neurology was not statistically significant (P>0.05), needing further observation. Conclusions The reform of DRG payment method under total amount control has different effects on the evaluation indicators of clinical departments of different natures. It is recommended to implement classified management and assessment for clinical departments of different natures.
ObjectiveTo observe the disease-causing genes and the inheritance in sporadic retinitis pigmentosa (sRP) in Ningxia region. Methods49 sRP patients and 128 family members were recruited for this study. All the patients and family members received complete ophthalmic examinations including best corrected visual acuity, slit-lamp microscope, indirect ophthalmoscopy, fundus color photography, visual field, optic coherence tomography, full view electroretinogram. DNA was extracted from patients and family members. Using exon combined target region capture sequencing chip to screen the 230 candidate disease-causing gene mutations, polymerase chain reaction and direct sequencing were used to confirm the disease-causing mutations. Results24/49 patients (49.0%) had identified disease-causing genes, totally 16 genes were involved. There were 41 mutation sites were found, including 32 new mutations (78.0%). The disease-causing genes include USH2A, C2orf71, GNGA1, RPGR1, IFT140, TULP1, CLRN1, RPE65, ABCA4, GUCA1, EYS, CYP4V2, GPR98 and ATXN7. Based on pedigree analysis, 20 patients were autosomal recessive retinitis pigmentosa, 3 patients were autosomal dominant retinitis pigmentosa and 1 patient was X linked retinitis pigmentosa. 3/7 patients with USH2A mutations were identified as Usher syndrome. ConclusionsUSHZA is the main disease-causing of sRP patients in Ningxia region. 83.3% of sRP in this cohort are autosomal recessive retinitis pigmentosa.
The severe acute respiratory syndrome coronavirus 2 is characterized by a long incubation period, strong infectivity and general susceptibility to the population. At present, there are no specific medicines that can treat coronavirus disease 2019. In order to increase the understanding of the molecular biology of severe acute respiratory syndrome coronavirus 2 and try to find effective treatments, we used SnapGene Viewer to analyze the genomic sequences of five strains of severe acute respiratory syndrome coronavirus 2 that published by National Genomics Data Center. The results showed that the genome length of this virus was about 29.8 kb and twelve open reading frames were predicted, and five nucleotide change sites were found in the open reading frames. In addition, we analyzed drugs used during the outbreak of severe acute respiratory syndrome, current drugs for the treatment of coronavirus disease 2019 and other possible drugs, to find some possible medicines with clinical treatment effects.