Objective To explore the effects of Neurogenesin 1 (Ng1) gene on functional recovery after spinal cord injury (SCI) and its mechanism. Methods Thirty-six rats (aging 4 months, weighing 230 g and being male or female), were randomly divided into two groups: experimental group (n=18) and control group (n=18). After spinal cord contusive injury at T10 level was made in all these rats using modified Allen’s method, Ng1 recombinant plasmid and blank plasmid were transfectedinto the damaged areas of exprimental group and control group respectively by Alzet pumps. At 1 day, 1 week, 2 weeks, 3 weeks, and 4 weeks after SCI, Basso-Beattle-Bresnahan (BBB) Rating Scale was used to observe the recovery of motor function. At 1 week after injury, the expressions of Ng1 mRNA and protein in injured spinal cord were detected by RT-PCR and Western blot techniques. And at 2 and 4 weeks, double immunofluorescence and histopathologic examinations were performed to study the prol iferation of the adult endogenous neural stem cells and pathological change after SCI. Results At 1-4 weeks after SCI, the BBB scores in the exprimental group was significantly higher than that in control group (P lt; 0.05), and at 4 weeks the BBB score of the experimental group (16.80 ± 1.79) was significantly higher than that of the control group (9.60 ± 1.67), (P lt; 0.01). RTPCR and Western blot showed that the mRNA and protein expressions of Ng1 were observed in the exprimental group and no expression was seen in the control group. Histologic observation showed that the morphology of spinal cord and neurons in the exprimental group was better than that in the control group and was close to the normal tissue. The mean number of Nestin+/ BrdU+ newborn endogenous neural stem cells in the exprimental group was significantly more than that in control group (P lt; 0.05). Conclusion Ng1 gene could promote the prol iferation of endogenous neural stem cells and protect the injured neurons, which enhances the repair of the motor function after SCI.
Objective lt;brgt;To evaluated the effect of transpupillary thermotherapy (TTT) on age-related macular degeneration (AMD). lt;brgt; lt;brgt;Methods lt;brgt;Sixty-two cases (62 eyes) of exudative AMD were managed with TTT. Before treatment, 58 cases underwent fundus fluorescein angiography(FFA),42 cases underwent simultaneous indocyanine green angiography (ICGA), and 56 cases underwent optic coherence tomography (OCT).TTT was delivered using a 810 nm diode laser with variable spot sizes 0.5-3.0 mm and power range 60-40 mW,60 seconds duration. Sixty-two cases were followed up for 1-10 months with 4.8 months average. lt;brgt; lt;brgt;Results lt;brgt;The visual acuities of last visit were compared with those before the treatment. The visual acuity was unchanged in 43 cases (69.3%), improved in 15 cases (24.2%), and declined in 4 cases (6.5%). OCT was re-done in 51 cases and compared with OCT images before TTT treatment. The height of macular edema was unchanged in 29 cases (56.9%), decreased in 18 cases (35.3%), and increased in 4 cases (7.8%). The amelioration of visual acuity was compatible with that of macular configuration in the majority of cases (74.5%). Only in 13 cases (25.5%) the amelioration of visual acuity lagged behind that of macular configuration. The re-treatment was performed in 18 cases (29.1%), probably due to insufficiency of laser power. No side-effect was found. lt;brgt; lt;brgt;Conclusion lt;brgt;TTT makes most of the cases of exudative AMD retaining or improving their visual acuity. The employment is secured. Further exploration is needed in order to obtain the parameters of the laser treatment. (Chin J Ocul Fundus Dis, 2002, 18: 180-183)
Epigenetic modifications such as DNA methylation, histone post-translational modifications, non-coding RNA are reversible, heritable alterations which are induced by environmental stimuli. Major risk factors of diabetes and diabetic complications including hyperglycemia, oxidative stress and advanced glycation end products, can lead to abnormal epigenetic modifications in retinal vascular endothelial cells and retinal pigment epithelium cells. Epigenetic mechanisms are involved in the pathogenesis of macular edema and neovascularization of diabetic retinopathy (DR), as well as diabetic metabolic memory. The heritable nature of epigenetic marks also playsakey role in familial diabetes mellitus. Further elucidation of epigenetic mechanisms in DR can open the way for the discovery of novel therapeutic targets to prevent DR progression.
ObjectiveTo identify and observe disease-causing gene variants and clinical phenotypes in a Han Chinese family with Leber congenital amaurosis (LCA). MethodsA retrospective study. A patient with LCA10 and his parents who had presented at Department of Ophthalmology of Henan Provincial People's Hospital on May 2022 were selected as the study subject. Detailed medical and family histories were recorded, fundus photography and flash electroretinogram (F-ERG) were performed. Peripheral venous blood samples (3 ml) of the proband and his parents were collected to extract whole genomic DNA, then whole exome sequencing (WES) and mitochondrial DNA (mtDNA) sequencing were carried out for the proband to determine the disease-causing gene and variants. All variants were annotated by bioinformatics analysis. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, the pathogenicity of all detected variants were evaluated. Candidate variants were verified by Sanger sequencing, and in vitro minigene assay were performed to evaluate the impact of the missense variant with insufficient evidence on mRNA splicing. ResultsThe proband, male, 7-month-old, presented with an inability to follow light or objects, eye poking, photophobia, nystagmus, partial loss of retinal pigment epithelium around the fovea of the macula. At the age of 2 years old, F-ERG revealed severe reduction, elongation, or even no waveform of a-wave and b-wave in both eyes. No obvious abnormality was found in the clinical phenotype of his parents. The result of WES revealed that the proband carried two variants in exon 40 and exon 2 of CEP290, a frameshift variant c.5515_5518del (p.Glu1839Lysfs*11) (V1) and a novel missense variant c.74C>T (p.Ala25Val) (V2), respectively. The result of mitochondrial DNA sequencing was negative. Sanger sequencing confirmed that the heterozygous frameshift variant was inherited from his father and the heterozygous novel missense variant was inherited from his mother, which constituted compound heterozygous variants. In vitro minigene splicing assay confirmed that V2 created a new splicing donor at exon 2, leading to the in-frame deletion of 30bp fragment during transcription and loss of 10 amino acid residues in the protein. The two variants were pathogenic (V1) and likely pathogenic (V2) based on ACMG guidelines, respectively. ConclusionsThe c.5515_5518del and novel c.74C>T compound heterozygous variants of the CEP290 gene probably are the cause of LCA10 in this family, which lead to the production of a truncated protein and aberrant splicing of pre-mRNA, respectively. LCA is characterized by early onset, severe impairment of visual function, and a wide range of disease-causing variations.
ObjectiveTo investigate the expression of tumor metastasis associated genes-1 (MTA1) and vascular endothelial growth factor-C (VEGF-C) in esophageal squamous cell carcinoma (ESCC) and the relationship between them and lymphangiogenesis. MethodA total of 107 patients who received excision for ESCC in the Cardiothoracic Surgery Department of Suining Central Hospital from March 2013 through January 2014 were enrolled. And the paraffinembedded esophageal tissues in 56 healthy persons were collected. The expression of MTA1 and VEGF-C in ESCC was detected using the immunohistochemical method. And D2-40 was used to label the micro-lymphatic endothelial cells of the tumor tissues while the micro-lymphatic vessel density (LVD) was counted. Meanwhile, a statistical analysis was performed for the relationship between MTA1 with VEGF-C and clinical pathological parameters. ResultsThe expression rates of MTA1 protein and VEGF-C protein in ESCC (50.4% and 58.8%, respectively) were higher than those in normal esophageal tissues with a statistical difference (P<0.05). Besides, their high expression rates in stage T3/T4 ESCC and lymph node metastasis group were significantly higher than those in stage T1/T2 ESCC and metastasisfree group, with statistical differences (P<0.05). The high expression rates of MTA1 and VEGF-C protein in ESCC with different TNM stages were compared using Kruskal-Wallis test with statistical differences (P<0.05). Moreover, a positive correlation existed in the expression level between MTA1 protein and VEGF-C protein of ESCC (Spearman coefficient r=0.512, P=0.000). And LVD of the high expression group for MTA1 protein and VEGF-C protein was statistically different from that of the low expression group (P<0.05). ConclusionThe expression of MTA1 is positively correlated with the expression of VEGF-C in ESCC. And they may co-promote lymphangiogenesis and lymphatic metastasis in ESCC. Therefore, both can be used as the laboratory indicators to determine the prognosis of ESCC.
ObjectiveTo review the research progress of the role of seed cells and related cytokines in angiogenesis of the vascularized tissue engineered bone. MethodsThe latest literature of tissue engineered bone angiogenesis was reviewed, including the common source of seed cells, biological characteristics, transformation mechanism, related cytokines, and signaling pathways in re-vascularization. ResultsMicrosurgery technique, genetic technique, and co-culture system of vascularized tissue engineered bone have developed to a new level. Moreover, both the induction of introduced pluripotent stem cells and vascular endothelial growth factor-angiopoietins 1 transfected mesenchymal stem cells and endothelial progenitor cells have some advantages for bone regeneration and vascularization. However, all the techniques were not used in clinical practice. ConclusionUsing techniques of genetically modified seed cells, related cytokines, and scaffolds may have bright prospects for building vascularized tissue engineered bone.
Objective To systematically evaluate the diagnostic value of TERC gene on high-grade squamous intraepithelial lesion (HGSIL) of the cervix. Methods Such databases as PubMed, EMbase, and The Cochrane Library were searched by March 31, 2012. According to the inclusion and exclusion criteria, the literature was screened and the data were extracted. The quality was evaluated in accordance with the quality assessment tool for diagnostic accuracy studies (QUADAS) and the meta-analysis was conducted by using Meta-Disc 1.4 software. Result A total of 12 studies involving 7 894 cases were included. The results of meta-analysis showed that the sensitivity, specificity and diagnostic odds ratios of TERC gene on HGSIL of cervix were 0.81 (95%CI 0.80 to 0.82), 0.83 (95%CI 0.82 to 0.84), 17.37 (95%CI 8.77 to 34.41), respectively. Conclusions The diagnostic value of TERC gene were medium in diagnosing HGSIL of the cervix alone, and it can be used as an optional method in clinical diagnosis.
Objective To investigate the orthopaedic inpatients’ disease and cost constitution of the Third People’s Hospital of Chengdu during 2008-2010, so as to provide detailed baseline data for further research on the factorial analysis of disease burden and effective intervention. Methods The medical records of inpatients in orthopaedic department of the hospital during 2008-2010 were collected, and the diseases based on the first diagnosis on discharge records were classified according to the International Classification of Diseases (ICD-10). Results During 2008 to 2010, the total number of inpatients increased year by year. Most of the male inpatients were the young and middle-aged, while the female were the old. The rank order of top 5 systematic diseases didn’t change, while there were 6 single diseases kept ranking as top 10 in those 3 years. The average cost per capita averagely grew by 8.97%. The top 3 constitution of hospitalization cost remained the same, which were material cost, drug cost, and treatment cost; while the top 3 payment modes of hospitalization cost were patient’s own expense, social security, and public expense. Among those payment modes, social security rose obviously, and patient’s own expense reduced generally. Conclusion a) The total number of inpatients increases yearly during 2008-2010, and the gender and age distribution of inpatients are tending towards stability. b) The spectrum of disease and single diseases classified according to the one-level code of ICD-10 are relatively stable in those 3 years; of which the top ranked disease is lumbar disc herniation, and the disease with most obviously rising trend is intertrochanteric fracturethe. c) The hospitalization cost per capita rises year by year, of which the constituent ratio of both material and examination costs grow obviously, but the operation, treatment and bed costs are still lower. It requires a multi-pronged approach to control the increase of hospitalization cost as well as the rationalization of cost constitution. d) Among all payment modes of hospitalization cost, the constituent ratio of patient’s own expense reduces year by year, while social security rises, indicating the medical security in national social security has been further expanded.
Objective To study the association between the insertion(I)/deletion(D) polymorphism of the angiotensin-converting enzyme gene intron 16 (ACE/ID) and diabetic nephropathy (DN) among Chinese population by Meta-analysis. Methods Odds ratios of ACE/ID genotype distributions were analyzed in NIDDM or IDDM patients with and without DN. All the related studies on ACE/ID polymorphism and DN were identified while poor-qualified studies were excluded, and the risk of publication bias was estiMetad. The Meta-analysis software, RevMan 3.1, was applied for investigating heterogeneity among individual studies and summarizing effects across studies by proper statistical methods. Result The pooled odds ratios (with 95%CI) of DD vs ID + II and II vs ID + DD were 2.17 (1.74-2.70) and 0.49 (0.36-0.66) in NIDDM (12 studies), 3.92 (2.05-7.47) and 0.19 (0.09-0.43) in IDDM (3 studies) respectively (Plt;0.01). Conclusion In both NIDDM and IDDM, ACE/ID polymorphism is believed to be associated with diabetic nephropathy. The number of DN patients with DD genotype has been increased while that with II genotype decreased.
Some risks affecting the quality of published systematic reviews and in our teaching practice were listed and compared with the correct concept. The current problems include misunderstanding of the relationship of meta-analysis and systematic review, applying meta-analysis and assessing heterogeneity, randomization, allocate concealment, and how to make inclusion and exclusion criteria, etc. This paper aims to help Chinese reviewers improve the quality of their systematic reviews.