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)
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.
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.
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.
PURPOSE:To investigate the spatial and temporal relation of fibronectin(Fn),basic fibroblast growth factor(b-FGF)and astrocytes with the retinal vascular developmemt of human fatuses. METHODS:The retinas of 86 human fetuses from 13th week to 40th week were studied by immunohistochemical methods and light microscopy. RESULTS:Fn immunoreativity was localized in spindle cells ,vascular endothelial cells and extracellular matrix ahead of the spindle cells,vascular endothelial cells,ganglion cells and cone cells were b-FGF immunopositive. The b-FGF immunoreactivity in ganglion cells and cone cells appeared earlier than the vascularization nearby.Astrocytes migrated to ora serrata in close association with the spindle cells.and sent numerous processes to ensheath the blood vessels formed in two processes of retinal vascuiarlzation. CONCLUSION:These results suggest that Fn ,b-FGF and astrocytes were involved in modulating both of two processes of retinal vascularizalion. （Chin J Ocul Fundus Dis,1996,12:180-182）
Objective To establish a scaffold model from heterogeneoussmall blood vessels. Methods Caudal arteries from 34 Wistar rats( average length 12.08±1.69 cm) were made into acellular blood vessel scaffolds. Some scaffoldswere observed by electron microscope, and others were transplanted to the cut ends of ear central arteries of male Japanese big ear white rabbits. Results Average external diameter was 0.74±0.08 mm in proximal, and 0.55±0.08 mm in distal end of rat caudal arteries. The small blood vessel scaffolds had shin wall whichwas white and soft, composed of fibrous tissues without cells. On the intima surface the fibrous tissues were arrayed densely in a grid-like pattern. After transplantation, the blood flow was reserved, and kept flowing freely in 24 hours. The pulsation of the transplanted artery was accessible and no blood leakage wasfound.Conclusion The natural scaffolds are composed of fibrous tissues, and can sustain the artery pulse pressure for 24 hours. It is better to suture the blood vessels by sleeve anastomosis.
Objective To study the preventive measure of the subambient temperature burn by analysing the pathogenesis feature. Methods The cl inical data were analysed from 351 cases of subambient temperature burn between February 2004 and February 2009, including age, sex, burn season, burn factors, burn position, burn area, burn degree, treatment way, and wound heal ing. Results Subambient temperature burn occurred in every age stage. The susceptible age stages included infant, children, and the elderly. Female patients were more than male patients. The common burn reasons werehot-water bottle burn, honey warm keeper burn, and heating device burn. The peak season was winter. Lower l imb was the most common site of the subambient temperature burn. The deep II degree to III degree were the most common level, and the burn area was always small, often 1% of total body surface area. Most of patients were treated with changing dressings at cl inic and few patients needed hospital ization. Though the surface of wound could heal finally, and the wound healed well with no obvious scar in patients who received operation. Conclusion Subambient temperature burn is the frequently encountered disease in winter. Use of the warming articles should be cautious, at the same time safety awareness should be strengthened so as to decrease the incidence rate of subambient temperature burn and the injury degree.
Objective To introduce the cells and cell-transplantation methods for periodontal tissue engineering. Methods Recent l iterature about appl ication of cell-based therapy in periodontal tissue engineering was extensively reviewed, the cells and cell-transplantation methods were investigated. Results Mesenchymal stem cells were important cell resourcesfor periodontal tissue engineering, among which peridontal l igament stem cells were preferred. Bone marrow mesenchymal stem cells had several disadvantages in cl inical appl ication, and adipose-derived stem cells might be a promising alternative; different transplantation methods could all promote periodontal regeneration to some extent. Single-cell suspension injection could only promote a l ittle gingival regeneration, and tissue engineered scaffolds still needed some improvement to be used in periodontal regeneration, while cell sheet technique, with great cell loading abil ity and no need of scaffolds, could promote regeneration of cementum, periodontal l igament, and alveolar bone under different conditions. Conclusion Multipotent stem cells are fit to be used in periodontal tissue engineering; improvement of cell-transplantation methods will further promote periodontal regeneration.
ObjectiveTo evaluate the clinical curative effect of posterior scleral reinforcement for macular retinoschisis in pathological myopic patients. MethodsA prospective study was conducted, in which 36 pathological myopia patients(36 eyes)with myopic foveoschisis were enrolled and divided into two groups according to the treatments: 24 patients (24 eyes) voluntarily underwent posterior scleral reinforcement (PSR, operation group) and 12 patients (12 eyes) didn't receive operation (control group). There are no statistical differences (P>0.05) in age, gender, length of axis oculi, spherical equivalent between the 2 groups. All patients were examined by best corrected visual acuity (BCVA), macular retinoschisis types, central foveal thickness (CFT), maximum foveal thickness (MxFT). Patients in operation group were scheduled to a follow-up 3rd, 6th, and 9th month after surgery respectively. Patients in control group all were followed up once every three months. A contrast observation was made on the changes of BCVA, CFT, MxFT, findings of the foveoschisis and the complications of the surgery between groups. ResultsCompared with the preoperation after 9 month follow-up: in the operation group, the BCVA was significantly increased postoperatively (Z=-3.43, P=0.01), the mean CFT was significantly decreased postoperatively (Z=-2.71, P=0.007), while the MxFT which was not significantly decreased postoperatively (Z=-0.67, P=0.503). In the control group, there was no significant change in BCVA (Z=-1.840, P>0.05), the CFT and the MxFT were signi? cant increased respectively (Z=-2.803, -2.04; P<0.05). In the operation group, there were 6 (25.0%) of the 24 eyes get complete resolution of the foveoschisis; 16 (66.7%) of them is not completely attached however the retinoschisis was significantly decreased; only 2 eyes developed to macular hole the other getting worse and the foveal thickness was increased. In the control group no one get complete resolution of the myopic foveoschisis, and 2 eyes developed to retinal detachment in 6 and 8 month respectively. There was no complications such as post-operative intra-ocular pressure increased, subretinal hemorrhage, macular epiretinal membrane, endophthalmitis, vortex vein circumfluence obstacle and anterior ocular ischemia syndrome occurred after surgery. ConclusionsPosterior scleral reinforcement surgery was found effective in improving the visual acuity, reducing the CFT. No obvious complications were found during and after the surgery.
Objective To review the research advances in animal models of human disc degeneration. Methods The relative articles in recent years were extensively reviewed. Studies both at home and abroad were analyzed and classified. The advantages and disadvantages of each method were compared. Results Studies were classified as either experimentally induced models or spontaneous models. The induced models were subdivided as mechanical (alteration of forces on the normal disc), structural (injury or chemical alteration) and genetically induced models. Spontaneous models included those animals that naturally developed degenerative disc disease. Conclusion Animal model of intervertebral disc degeneration is an important path for revealing the pathogenesis of human disc degeneration, and play an important role in testing novel interventions. With recent advances in the relevance of animal models and humans, it has a great prospect in study of human disc degeneration.