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Objective:To investigate the efficiency and safety of pneumatic retinopexy for rhegmatogenous retinal detachment (RRD).Methods:A prospective case series study. From January 2020 to December 2021, 27 eyes of 27 RRD patients in Joint Shantou International Eye Center were included. Among them, there were 10 males and 17 females; the mean age was 36.0±11.8 years old. There was recurrent retinal detachment in 4 eyes. Best corrected visual acuity (BCVA) and optical coherence tomography were performed. According to whether the retina was successfully reattached after a single intravitreal injection, the patients were divided into a single operation group and a second operation group. All eyes underwent pneumatic retinopexy, the patients received intravitreal injection of 0.3-0.5 ml 100% C 3F 8. On the next day, laser photocoagulation was performed around the retinal breaks. The mean follow-up time was 15.0±6.0 months. Outcome measures included single operation success rate, the BCVA at the last follow up and complications. The age, gender, extent of retinal detachment, number of retinal breaks, and preoperative and postoperative BCVA of patients in the single operation group and the second operation group were compared using Mann-Whiteney test or Fisher's exact test. Results:Twenty of the 27 eyes (74.1%, 20/27) had retinal reattachment after single operation, 7 of the 27 eyes (25.9%, 7/27) had retinal reattachment after the second operation. Among the 7 eyes, retinal detachment recurrence after operation, retinal detachment recurrence after tear opening, and retinal detachment recurrence with new tears occurred in 1, 4, and 2 eyes, respectively; retinas were all reattached after scleral buckling or vitrectomy. The BCVA was stable and improved in 14 and 13 eyes, respectively. Compared with the single operation group, the retinal detachment in the second operation group was wider and the BCVA before operation was worse, the differences were statistically significant ( Z=-2.842,-2.233; P<0.05). Transient intraocular pressure elevation occurred in 5 eyes; no complications such as infectious endophthalmitis, intraocular hemorrhage and lens damage occurred. Conclusion:Pneumatic retinopexy is safe and effective in the treatment of RRD.
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Objective:To evaluate the visual outcomes of cataract surgery in patients with retinitis pigmentosa (RP).Methods:A serial case-observational study was conducted.One hundred and eleven eyes of 67 patients with RP and cataract who received phacoemulsification with posterior chamber intraocular lens implantation in Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong from January 2011 to December 2015 were included.Best corrected visual acuity (BCVA) was examined using standard visual chart before and after surgery and converted to logarithm of the minimal angle of resolution (LogMAR) units.Optical coherence tomography was employed to examine the retinas in 19 eyes before surgery and the eyes were graded into gradeⅠ, Ⅱ and Ⅲ according to the integrity of inner segment ellipsoid zone (ISe).The correlation between the grading of ISe and postoperative BCVA was analyzed.This study complied with the Declaration of Helsinki, and study protocol was approved by an Ethics Committee of Joint Shantou International Eye Center (No.EC20170310(2)-P03).Written informed consent was obtained from each patient before operation.Results:The vision was improved in 82 eyes (73.9%) and not obviously changed in 29 eyes (26.1%) after surgery.The median BCVA was improved from preoperative 0.82 (0.60, 1.40) LogMAR to postoperative 0.40 (0.22, 0.70) LogMAR, showing a significant difference between pre-operation and post-operation ( Z=-8.76, P<0.01).The proportion of eyes with BCVA more than 0.52 LogMAR was significantly reduced from preoperative 79.3% (88/111) to postoperative 38.7% (43/111), and the proportion of eyes with BCVA more than 1.3 LogMAR was significantly reduced from preoperative 28.8% (32/111) to postoperative 4.5% (5/111) ( χ2=37.711, 23.643; both at P<0.01).A positive correlation was found between the grading of ISe integrity and postoperative BCVA( rS=0.959, P<0.01). Conclusions:Phacoemulsification with posterior chamber IOL implantation can improve the BCVA of RP patients.The integrity of the ISe can predict the postoperative BCVA in RP patients with cataract.
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Objective:To explore the application and value of metagenomic next-generation sequencing (mNGS) in refractory infection after organ transplantation.Methods:A case report discussed about a patient with lumbar spine infection after kidney transplantation and the relevant literature was reviewed. The recipient was a 63-year-old man with low back pain after kidney transplantation. Lumbar spine magnetic resonance imaging showed lumbar spine infection. Multiple operations plus antibacterial and antituberculosis treatments were ineffective. Before and after treatment, numerous tests of traditional pathogenic microorganisms failed to detect any positive bacteria.Results:The detection of lumbar secretion by mNGS suggested aspergillus infection. The symptoms improved after dosing of voriconazole.Conclusions:The incidence of fungal infection of lumbar spine is low. The imaging manifestations are non-typical so that it is easy to misdiagnose. mNGS helps to timely diagnose and guide treatment. With a review of the literature, mNGS has some application value for some difficult and rare infectious diseases.
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Objective:To investigate the association between choroidal neovascularization (CNV) and the LIPC gene single nucleotide polymorphism (SNP) in a Chinese Han population from Shantou. Methods:A case-control study was designed.Two hundred and twenty-one patients with CNV who visited Shantou International Eye Center from January 2010 to December 2016 were enrolled and served as the CNV group, and 430 healthy volunteers matched in age and gender were enrolled and served as the normal control group.Each of 5 ml fasting peripheral blood of the subjects was extracted, and peripheral blood DNA was extracted after anticoagulation.PCR amplification was conducted on SNP loci of LIPC gene including rs10468017, rs920915 and rs2070895.After purification, genotyping was performed on the above SNP loci using the single base extension (SNaPshot) method.Hardy-weinberg equilibrium (HWE) test was used to determine the genotype frequency of the three SNPs of LIPC gene.The gene frequency and genotype frequency of the 3 loci between the CNV group and normal control group were compared.This study followed the Declaration of Helsinki.Written informed consent was obtained from each subject prior to entering the study cohort.The study protocol was approved by the Ethics Committee of Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong (No.11-004). Results:The genotype frequency distribution of rs10468017, rs920915 and rs2070895 of the three SNPs of LIPC gene reached genetic balance in the total samples ( P>0.05). The genotype frequencies of rs10468017 TT genotype, rs920915 CC genotype and rs2070895 AA genotype in CNV group were 3.62%, 5.43% and 12.22%, respectively, while those of normal control group were 2.56%, 5.58% and 14.19%, respectively, with no statistically significant difference (all at P>0.05). The minimum allele (T) frequency of rs10468017 was 18.1% and 17.2%, the minimum allele (C) frequency of rs920915 was 21.7% and 23.1%, and the minimum allele (A) frequency of rs2070895 was 33.7% and 38.7% in the CNV group and the normal control group, respectively (all at P>0.05). The odd ratio ( OR) values (95%confidence interval [ CI]) of rs10468017, rs920915 and rs2070895 in the CNV group and the normal control group were 1.06 (0.79-1.44), 0.92 (0.70-1.21) and 0.80 (0.63-1.02), respectively. Conclusions:The results from the present study do not indicate the association of LIPC SNPs (rsl0468017, rs920915 and rs2070895) with CNV in the Shantou Han population.
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Objective@#Remuzzi scoring system is utilized for assessing the degree of renal tissue damage in donors with hypertensive cerebral hemorrhage and donors with brain trauma after cardiac death. To explore the prognosis of hypertensive cerebral hemorrhage donor kidney in renal transplant recipients.@*Methods@#The kidney donated by DCD between January 1, 2016 to June 1, 2018 were retrospectively reviewed. Pathological biopsy was performed before transplantation and hematoxylin-eosin (HE) staining after sectioning. The degree of renal tissue lesions was evaluated by Remuzzi scoring system. According to the source of donor kidney, they were divided into two groups of donors with heart failure due to hypertensive cerebral hemorrhage (HCH) and those with brain trauma (BT). Both groups of donor kidneys were preserved by low-temperature machine perfusion. The immunosuppressive regimen was identical in both groups. The prognosis of two groups was compared by serum creatinine (Scr) at Month 1/6/12 post-operation and cumulative graft survival rate over a follow-up period of 12-36 months.@*Results@#The renal Remuzzi score of HCH donors was significantly higher than that of BT donors. The maximal creatinine clearance rate was significantly lower than that of BT donors [(86.8±27.8) vs (115.4±23.2) ml/min, P<0.05]. At 1/6/12 months post-transplantation, serum creatinine levels were (76.1±18.5), (72.4±16.2) and (71.4±16.8) μmol/L in BT group and (160.3±33.4), (154.3±32.6) and (146.4±29.1) μmol/L in HCH group. The SCr in BT group at 1/6/12 months was lower than that in HCH group (P<0.05). Kaplan-meier analysis showed no significant inter-group difference in graft survival between two groups over a follow-up period of 12 to 36 months (Log-Rank test, P=0.485).@*Conclusions@#No significant difference exists in short-term survival rate of kidneys from HCH and BT donors. The recipients of HCH donor's kidney have higher serum creatinine levels than those of BT donors. Selective use of kidney transplants in patients with cardiac death caused by HCH may greatly reduce the waste of donor kidney and improve the quality-of-life of patients with end-stage renal disease.
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Objective Remuzzi scoring system is utilized for assessing the degree of renal tissue damage in donors with hypertensive cerebral hemorrhage and donors with brain trauma after cardiac death .To explore the prognosis of hypertensive cerebral hemorrhage donor kidney in renal transplant recipients .Methods The kidney donated by DCD between January 1 ,2016 to June 1 ,2018 were retrospectively reviewed .Pathological biopsy was performed before transplantation and hematoxylineosin (HE) staining after sectioning . The degree of renal tissue lesions was evaluated by Remuzzi scoring system .According to the source of donor kidney ,they were divided into two groups of donors with heart failure due to hypertensive cerebral hemorrhage (HCH) and those with brain trauma (BT) . Both groups of donor kidneys were preserved by low-temperature machine perfusion . The immunosuppressive regimen was identical in both groups .The prognosis of two groups was compared by serum creatinine (Scr) at Month 1 /6/12 post-operation and cumulative graft survival rate over a follow-up period of 12-36 months .Results The renal Remuzzi score of HCH donors was significantly higher than that of BT donors .The maximal creatinine clearance rate was significantly lower than that of BT donors [(86 .8 ± 27 .8 ) vs (115 .4 ± 23 .2 ) ml/min , P < 0 .05 ] . At 1 /6 /12 months posttransplantation ,serum creatinine levels were (76 .1 ± 18 .5 ) , (72 .4 ± 16 .2 ) and (71 .4 ± 16 .8) μmol/L in BT group and (160 .3 ± 33 .4) ,(154 .3 ± 32 .6) and (146 .4 ± 29 .1) μmol/L in HCH group .The SCr in BT group at 1 /6 /12 months was lower than that in HCH group ( P < 0 .05 ) . Kaplan-meier analysis showed no significant inter-group difference in graft survival between two groups over a follow-up period of 12 to 36 months (Log-Rank test , P = 0 .485 ) .Conclusions No significant difference exists in short-term survival rate of kidneys from HCH and BT donors . The recipients of HCH donor's kidney have higher serum creatinine levels than those of BT donors . Selective use of kidney transplants in patients with cardiac death caused by HCH may greatly reduce the waste of donor kidney and improve the quality-of-life of patients with end-stage renal disease .
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Objective To investigate the disease-causing mutation in a family with Leber congenital amaurosis (LCA).Methods A Chinese Han pedigree with LCA from Chaoshan area was recruited in Shantou International Eye Center in August 2011.The clinical features of the families were evaluated,including medical history,best corrected visual acuity,intraocular pressure and fundus photography.The peripheral blood sample of 5 ml was collected from each of the family members for the extraction of genomic DNA.DNA of the proband was investigated by whole exome sequencing (WES) and was filtered for function of variants and inheritance pattern.Then,Sanger sequencing was performed to confirm the WES result on all the participating subjects in the pedigree.Results There were 11 families of 3 generations in this pedigree,and 2 female LCA patients were found (Ⅱ 2 and Ⅱ4) who were sisters.The parents (Ⅰ-1 and Ⅰ-2) and children (Ⅲ-1,Ⅲ-2,Ⅲ-3 and Ⅲ-4) of the patients showed normal phenotype,suggesting an autosomal recessive pattern.The patients appeared severe visual impairment during early childhood.Ophthalmic examination showed diffuse pigmentation on the retina and attenuation of retinal artery in both patients.WES of proband revealed two compound heterozygous mutations (c.2234C ＞T,p.T745M;c.3488G＞T,p.C1163F) of the CRB1 gene.Sanger sequencing confirmed the mutations in both patients (Ⅱ-2 and Ⅲ-4),and the parents of the patients were found to carry one mutations respectively and the other subjects with normal phenotype had neither none or only one mutation.Conclusions The compound heterozygous mutation of c.2234C＞ T,p.T745M and c.3488G＞T,p.C1163F in CRB1 is responsible for LCA pathogenesis this Chinese Han pedigree.
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Biliary stricture refers to reduction of biliary tract patency caused by various factors,and can be divided into benign and malignant biliary strictures.Different treatments are taken based on the etiology and type of biliary tract diseases.Surgical treatment is the main treatment for biliary stricture diseases in the past.However,with the wide application of endoscopic therapy,it begins to play an important role in the treatment of biliary tract diseases.This article reviewed the application of digestive endoscopy in the diagnosis and treatment of biliary stricture.
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Objective To analyze the factors and prognosis of graft recovery after donation after citizens death (DCD) donor renal transplantation.Methods A retrospective analysis of 67 cases of DCD renal transplantation from August 2012 to September 2015 in our hospital was carried out.According to the stability of renal function after operation,the patients were divided into group A (51cases) with stable renal function,and 16 cases in group B (delayed graft function after operation).The clinical data of two groups including age,gender,cause of death,warm ischemia time,type of dialysis,and application of norepinephrine before operation were collected and analyzed.The related factors of graft function recovery were analyzed.Logistic regression analysis was used to analyze the risk factors of graft functional recovery after operation.The 3-month,6-month,1-year and 18-month survival rate after operation in the two groups was compared.Results The causes of death,the time of ischemia,the type of dialysis before operation,the application of norepinephrine before operation,infants and young donors were related factors of graft function recovery (P ＜ 0.05).Logistic regression analysis showed that cerebral hemorrhage death donor,the long thermal ischemia time,the preoperative hemodialysis and the application of norepinephrine before operation were the risk factors of delayed graft function recovery (P＜0.05).The 3-month,6-month,1-year and 18-month survival rate after operation in group A was higher than that in group B,with the difference being statistically significant (P＜0.05).Conclusion Cerebral hemorrhage death donor,the long thermal ischemia time,the preoperative hemodialysis and the application of norepinephrine before operation were the independent risk factors of delayed graft function recovery.And the prognosis of patients with delayed graft function was poor.Clinical risk should be eliminated or reduced in clinical practice,which can effectively prevent the delayed graft function and further improve the prognosis of the patients.
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Objective To study the diagnostic value of endoscopic ultrasonography (EUS)for benign and malignant bile duct stricture.Methods Data of 51 patients who underwent EUS from January 2007 to March 2015 due to distal biliary stricture were retrospectively studied.And their diagnosis with EUS,IDUS,bile duct cytological brushing and final diagnosis were compared.Results Malignant bile duct stenosis were finally confirmed in 19 cases and benign stenosis were confirmed in 32 cases.The sensitivity (73.7％ VS 57.1％) and positive predictive value (73.7％ VS 57.1％) of EUS for the benign and malignant diagnosis of biliary tract stenosis were significantly higher than that of IDUS (P＜0.05),while their specificity(84.4％ VS 84.2％)and accuracy(80.4％ VS 76.9％)were similar.The sensitivity of EUS was significantly higher than that of bile duct cytological brushing (73.7％ VS 50.0％),while their specificity (84.4％ VS 100.0％)and accuracy(80.4％ VS 81.6％)were similar.EUS findings of hypoechoic mass features had higher diagnostic accuracy for detecting malignant distal bile duct stricture than irregular thickening of the lumen in the distal bile duct (100.0％ VS 64.3％,P＜0.05).Conclusion For patients with lesions of the distal bile duct that CT/MRI could not diagnose,EUS has an important value for the further diagnosis of benign and malignant bile duct stricture.
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Objective To evaluate the effect of IL-18 on the expression of E-cadherin,α-SMA and CX3 CL1 in pancreatic stellate cells (PSCs).Methods The human PSC line HPaSteC was routinely cultured and passaged.Five,25,50 and 100 μg/L IL-18 was used to treat PSCs for 72 h and the untreated PSCs were used as control.Treated and untreated cells were both collected,and RT-PCR and Western blot were used to detect mRNA and protein expression of E-cadherin,α-SMA and CX3CL1 respectively.Results The mRNA expressions of E-cadherin in control group and 5,25,50 and 100 μg/L IL-18 treated group were 1.03 ± 0.17,0.77 ±0.15,0.89 ± 0.12,0.54 ± 0.11 and 0.46 ± 0.06.The mRNA expression of α-SMA were 1.03 ± 0.19,0.85 ± 0.14,1.33 ± 0.22,1.60 ± 0.14 and 1.94 ± 0.09;The mRNA expression of CX3CL1 were 1.01 ±0.08,0.88 ±0.25,0.86 ±0.17,1.58 ±0.26 and 1.83 ±0.13.The mRNA expression of E-cadherin in IL-18 treated group were down-regulated,while the mRNA expression of α-SMA and CX3CL1 were up-regulated,and the differences between control and IL-18 100 μg/L treated group were statistically significant (P ＜ 0.05 or ＜ 0.01).The protein expression of E-cadherin in control group and 5,25,50 and 100 μg/L IL-18 treated group were 1.00 ±0.14,1.14 ±0.04,1.14 ±0.07,0.85 ±0.08 and 0.80 ±0.06.The protein expression of α-SMA were 1.00 ± 0.02,0.77 ± 0.07,1.29 ± 0.02,1.59 ± 0.07 and 1.70 ± 0.02;The protein expression of CX3CL1 were 1.00 ± 0.05,1.03 ± 0.05,1.37 ± 0.06,1.46 ± 0.18 and 1.45 ± 0.12.The protein expression of E-cadherin was down-regulated but no significant differences were observed among different groups.The protein expression of α-SMA was up-regulated and the differences between control group and 25,50 and 100 μg/L IL-18 treated groups were statistically significant (all P ＜0.01).The protein expression of CX3CL1 was up-regulated and the differences between control group and 100 ng/ml IL-18 treated group were statistically significant (P ＜0.05).Conclusions IL-18 can activate PSCs and up-regulate the expression of chemokine CX3CL1.
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Objective To investigate the factors correlated with the visual outcome of idiopathic macular holes (IMH) after vitreoretinal surgery.Methods A total of 57 eyes of 57 patients with IMH were included.There were 43 females (43 eyes) and 14 male (14 eyes),mean age was (60.46±4.79) years.All the eyes underwent best corrected visual acuity (BCVA),slit-lamp microscope,three-mirror contact-lens and optical coherence tomography (OCT) examinations.BCVA were examined with interactional visual chart and recorded with logarithm of the minimum angle of resolution (logMAR) acuity.The minimum diameter and base diameter of macular holes and central retinal thickness (CRT) were detected by OCT.The average logMAR BCVA of 57 eyes was 0.98 ± 0.41.The minimum diameter and base diameter of macular holes were (479.53±164.16) μm and (909.14±278.65) μm.All the patients underwent pars plana vitrectomy combined with phacoemulsification cataract extraction and intraocular lens implantation.The mean follow-up period was (173.44 ± 147.46) months.The relationships between final BCVA and these parameters were examined by single and multiple regression analysis.The valuable influence factors were filtrated and formulated using multiple linear regression models.Results At the final follow-up,the logMAR BCVA of 57 eyes was 0.44±0.31,the CRT was (158.79±86.96) μm.The final BCVA was positive related to minimum diameter of macular holes and preoperative BCVA (r =0.420,0.448;P =0.001,0.000),negative related to postoperative CRT (r=-0.371,P=0.004).There was no relationship between the final BCVA and base diameter of macular holes,age and follow-up (r=0.203,-0.015,0.000;P=0.130,0.913,0.999).The incidence of preoperative BCVA for postoperative BCVA was bigger than preoperative minimum diameter of macular holes (P=0.008,0.020).Conclusion The preoperative minimum diameter of macular holes and BCVA are related to postoperative BCVA in IMH eyes.
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Objective To investigate the influence of miR-106b on Wnt/β-catenin pathway in HCC cells. Methods QGY-7703 and HepG2 cells were transfected with miRNA mimics or inhibitors. TOP/FOP luciferase ratio assay was used to test the Wnt/β-catenin pathway activity. The expression of downstream targeted genes of Wnt/β-catenin pathway were examined by Real-time PCR. The accumulation of β-catenin in nuclears were measured by Western blotting. Results Ectopic expression of miR-106b dramatically increased the average TOP/FOP ratio and the mRNA expression of downstream targeted genes in QGY-7703 and HepG2 cells. Compared with that in control cells , miR-106b over-expression promoted the nuclear β-catenin accumulation in QGY-7703 cells. Clonclusion MiR-106b activated Wnt/β-catenin pathway in HCC cells.
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Objective To summarize the curative effect of repairing large area soft tissue defects in heel and crus by flaps with double blood-supply of posterior tibial artery perforators and saphenous nerve nutrient vessels.Methods From January 2006 to February 2012,twenty cases took operation under the guide of Continuous Wave Doppler and design of tibial artery perforator as rotation point.And in all cases,island flaps with the blood supply from saphenous nerve nutrient vessels and tibial artery perforator were retained to repair large area soft tissue defects in heel and crus.In operations,the range of flap area were ranged from 19 cm × 11 cm to 11 cm × 8 cm.Skin flaps incision was up to the patella margin level,low to medial malleolus on edge,former to crus former median line,rear to after crus median line and farthest to the surface of wound on the metatarsophalangeal joint.Results Nineteen cases survived,and 1 case of skin flap mild necrosis at the farthest side took a second-phase line skin flap to repair.Followed-up from 6 months to 24 months was taken in all cases at the mean time of 10 months,with a result of good recovery and no ulceration for the flaps.To varying degree,all flaps recover sense of pain and deep touch.Conclusion There is no wound to posterior main tibial artery in repairing large area soft tissue defects in heel and crus by flaps with double blood-supply from posterior tibial artery perforators and saphenous nerve nutrient vessels,meanwhile to maintain double blood-supply from posterior tibial artery perforators and saphenous nerve nutrient vessels and expand the range of blood supply of posterior tibial artery perforators.In this operation,a blood circulation for the flap can be guaranteed so as for a large wound in heel and crus.
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Objective To study the expression of tumor necrosis factor alpha (TNF-α) in the intestine of mice irradiated by neutron and γ rays.Methods 350 male BALB/c mice were irradiated with neutron and γ rays of different doses, and sacrificed at 6 and 12hours, 1, 2, 3, 4, 5, 7, 10, 14, 21 and 28 days after irradiation.The TNF-α in the mice intestinal tissue was detected by means of immunohistochemistry and image analysis.Results In normal control mice, TNF-α was expressed in the cytoplasm of macrophages in intestinal villus interstitium, submucosa and lymph tissue.After 2.5Gy neutron radiation, TNF-α was decreased progressively within 2 days, increased obviously in macrophages and crypt cells during 3rd～7th day, reached the peak at 5th day and recovered to normal level at 14th day and TNF-α was decreased progressively within 4 days after 4.0 and 5.5Gy neutron and 12Gy ray irradiation.TNF-α was increased obviously in 6～12 hours, decreased at 1st day, increased at 2nd～5th day, peaked at 3rd day and recovered at 10th day after 5.5Gy ray irradiation.Conclusion Neutron and ray radiation induce different expression profile of endogenous TNF-α in small intestine, which may be related with the pathologic courses of irradiation-induced damage and repair of intestine.
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<p><b>INTRODUCTION</b>Retinitis pigmentosa (RP) describes a group of inherited disorders characterised by progressive retinal dysfunction, cell loss and atrophy of retinal tissue. RP demonstrates considerable clinical and genetic heterogeneity, with wide variations in disease severity, progression, and gene involvement. We studied a large family with RP to determine the pattern of inheritance and identify the disease-causing mutation, and then to describe the phenotypic presentation of this family.</p><p><b>MATERIALS AND METHODS</b>Ophthalmic examination was performed on 46 family members to identify affected individuals and to characterise the disease phenotype. Family pedigree was obtained. Some family members also had fundus photographs, fluorescein angiography, and/or optical coherence tomography (OCT) analysis performed. Genetic linkage was performed using short tandem repeat (STR) polymorphic markers encompassing the known loci for autosomal dominant RP. Finally, DNA sequencing was performed to identify the mutation present in this family.</p><p><b>RESULTS</b>Clinical features included nyctalopia, constriction of visual fields and eventual loss of central vision. Sequence analysis revealed a G-to-T nucleotide change in the Rhodopsin gene, predicting a Gly-51-Val substitution.</p><p><b>CONCLUSIONS</b>This large multi-generation family demonstrates the phenotypic variability of a previously identified autosomal dominant mutation of the Rhodopsin gene.</p>
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Adolescent , Adult , Aged , Aged, 80 and over , Child , Female , Humans , Male , Middle Aged , Genes, Dominant , Mutation , Pedigree , Retinitis Pigmentosa , Genetics , Rhodopsin , GeneticsABSTRACT
Objective To investigate the effects of Hep-A and He p-B on vascular endothelial growth factor (VEGF)-induced breakdown of blood-r etinal barrier. Methods The mice were subcutaneously injected vehicle, Hep-A or Hep-B 10 mg/kg twice a day for 5 days. Then, 1 ?l of 10 -6 mol/L VEGF were intravitreous injected. After 6 hours, 13.7?10 4 Bq /g 3H-mannital were injected intraperitoneally. The mice were sacrificed and the retinas, lungs, kidneys were removed and examined for radioactivity. The result were analyzed using SPSS software to calculate and compare retina/lung and et ina/kidney leakage ratio among groups of different treatment. Result The retina/lung and retina/kidney leakage ratio were 0.38?0.04 an d 0.21?0.03 respectively in normal mice; increased significantly to 1.05?0.11 and 0.46?0.04 respectively in model mice, both P
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Objective To study changes and significance of endothelin(ET) in rat cerebral concussion.Methods 80 Wistar male rats were used for animal model of cerebral concussion,which were sacrificed on 1,3,7,14 and 30 days after injury and the brain tissue were taken off. The expression of ET was studied in the course of cerebral concussion by means of immunohistochemistry.Results Typical clinical manifestation was observed in the 100 g group in which the pathological changes included cerebral vascular constriction and dilatation,congestion and edema of cerebral tissue,neuronal degeneration,necrosis,and obviously decreased even disappeared Nissl bodies.Increased expression of ET was observed on the first day,the positive area was seen in the plasma of endothelial cells in cerebral cortex,hippocampus,cerebellum and thalamus.ET expression peak occurred on the 7th day,the positive area was also found in the plasma of Purkinje cells in the cerebellum.Decreased ET expression was found on 14th day and returned to normal level on the 30th day.Conclusion The main pathological changes of cerebral concussion contained blood circulation disorder,and degeneration and necrosis of substantial cells.ET was involved in the brain tissue injury during the pathological process of cerebral concussion and might be related to regulation of cerebral vascular reaction,and neuron degeneration and necrosis.
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Objective To study comparatively the changes in epi th elial growth factor (EGF) and its receptor (EGFR) in injured intestine induced b y neutron and ?-ray irradiation in mice and their significance. Method s 350 male BALB/C mice were irradiated with neutron and ?-rays, and t hey were sacrificed at 6 and 12 hours and 1, 2, 3, 4, 5, 7, 10, 14, 21 and 28 da ys, respectively, after irradiation. Immunohistochemical method was employed to assess EGF and EGFR in the intestinal tissue of the mice. Results After the neutron radiation with 2.5Gy dosage, the expressions of EGF and E GFR in the cytoplasm of mucosa epithelial cells and crypt cells were obviously u p-regulated within 1 day, decreased after 1~2 days, increased again on 3~7 days , reached the peak value at the 5th day, and returned to normal values in 14 day s. Whereas EGF and EGFR were increased at 6 hours and progressively decreased fr om 12 hours up to 4 days after 4.0 and 5.5Gy neutron and 12Gy g-ray radiation . They were increased progressively within 3 days, reaching peak value on the 3r d day, and returned to normal values 5 days after 5.5Gy g-ray irradiation. Conclusions The expressions of endogenous EGF and EGFR showed diffe rent regularities after neutron and g-ray radiation, and they were involved in the pathologic courses of radiation damage and recovery of the intestine.