Objective
lt;brgt;To evaluated the effect of transpupillary thermotherapy (TTT) on age-related macular degeneration (AMD).
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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.
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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.
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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.
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.
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.
Age-related macular degeneration (AMD) is a fundus disease characterized by degeneration of retinal photoreceptor cells, RPE cells and choroidal capillaries. The pathogenesis is not clear and there is no effective treatment. Cell therapies can slow or reverse the vision loss of AMD in animal models, which include implantation of bone marrow mesenchymal stem cells, pluripotent stem cells, RPE cells into the subretinal cavity. Therefore, cell therapy is a promising strategy for the treatment of AMD.
ObjectiveTo observe the optical coherence tomography angiography (OCTA) image characteristics of polypoid choroidal vascular disease (PCV) after intravitreal injection of anti-vascular endothelial growth factor drugs, and to discuss its significance in the diagnosis and follow-up of PCV.MethodsA retrospective case study. From August 2018 to January 2020, 22 eyes of 22 patients with PCV diagnosed in the ophthalmological examination of Affiliated Hospital of Weifang Medical University were included in the study. Among them, there were 10 males with 10 eyes and 12 females with 12 eyes; the average age was 67.75±9.53 years. Best corrected visual acuity (BCVA), OCTA, and indocyanine green angiography (ICGA) were performed. All the affected eyes were injected vitreously with 10 mg/ml Conbercept 0.05 ml (including Conbercept 0.5 mg) once a month for 3 consecutive months.Tthe macular area of 3 mm×3 mm and 6 mm×6 mm with an OCTA instrument was scanned, and the foveal retinal thickness (CRT) was measured, the area of abnormal branch blood vessels (BVN). pigment epithelial detachment before and 12 months after treatment (PED) height, foveal choroid thickness (SFCT) were performed. The diagnosis rate of PCV by OCTA was observed, as well as the changes of various indicators of BCVA and OCTA. Before and after treatment, BCVA and CRT were compared by paired t test; BVN area, PED height, and SFCT were compared by variance analysis. The changes in imaging characteristics of OCTA before and after treatment were analyzed.ResultsAmong the 22 eyes, 8 eyes were BVN; 5 eyes were polypoid lesions (polyps); 5 eyes were BVN combined with polyps; 3 eyes were not found with BVN and polyps; 1 eye with small vascular network structure, this eye was ICGA Appears as strong nodular fluorescence (polyps). The detection rate of PCV by OCTA was 86.36% (19/22). Twelve months after treatment, BVN was significantly reduced or disappeared in 16 eyes (72.72%, 16/22); polyps disappeared in 17 eyes (77.27%, 17/22). Compared with before treatment, 12 months after treatment, BCVA increased (t=3.071), CRT decreased (t=2.440), the difference was statistically significant (P＜0.05); the average BVN area, PED height, and SFCT decreased. The difference in average BVN area and PED height was statistically significant (F=2.805, 3.916; P＜0.05), and the difference in SFCT was not statistically significant (F=0.047, P＞0.05).ConclusionsThe detection rate of PCV by OCTA is 86.36%. After PCV anti-vascular endothelial growth factor drug treatment, BVN area decrease and polyps subside. OCTA is an effective means for PCV diagnosis and follow-up after anti-VEGF drug treatment.
摘要:目的： 檢測大腸癌組織中Kras基因的突變情況以指導臨床治療。 方法 ：通過提取15例大腸癌石蠟組織中的DNA并進行PCR擴增,之后采用國際金標準方法直接測序法進行檢測獲得突變信息。 結果 ：15例大腸癌石蠟組織樣本中Kras有4例發生突變,突變率為266%。值得注意的是發現一個新的突變位點密碼子42,并且與密碼子12突變共存。 結論 ：密碼子42的突變進一步證明Kras突變不僅局限于密碼子12,13,61,還有與密碼子12共存的42位突變。Abstract: Objective: To detect the mutation status of Kras gene in colorectal cancers and to assist the clinical treatments Methods : DNA was extracted from fifteen formalinfixed, paraffinembedded tumor samples of colorectal cancers, and then the fragments containing codons 12,13 and codon 61 were amplified by PCR The sequences were indentified by direct sequencing which is gold standard for the detection of mutation Results : In the 15 samples of colorectal cancer patients, 4 mutations were observed, with 2 in codon 12 and 2 in codon 13 Suprisingly, a novel point mutation at codon 42 of Kras was found, and coexisted with mutation in codon 12 Conclusion : Except for codons 12,13,61 mutation, Kras has other mutation at codon 42 with coexisted with codon 12 point mutation
Lipid globules in retina and choroid are new definitions based on pathology and high-resolution optical coherence tomography (OCT). OCT examination shows that the lipid globules are low reflective circular cavities in the choroid and retina, without strong reflective boundaries around them, followed by a characteristic superreflective tail. It occurs in healthy human eyes and in age-related macular degeneration characterized by retinal pigment epithelium (RPE) atrophy. Its characteristic superreflective tail is the key to distinguishing it from other diseases. At present, the understanding of lipid globules is still in the initial stage. Although lipid globules can be observed in healthy human eyes, a certain prevalence rate indicates that they are associated with choroidal hypoperfusion and RPE atrophy. In the future, larger randomized controlled trials and longer follow-up time are needed to explore its pathogenesis, pathological characteristics and treatment prognosis.
Objective To construct the responsive plasmid PTRE-HIF-1αof Tet-on gene expression system and examine its expression. Methods RT-nested PCR was performed on the total RNA extracted from hypoxia HepG2 cells to obtain the cDNA of HIF-1α, which was inserted into the responsive plasmid PTRE2hyg. DNA sequencing was performed after the recombinant of responsive plasmid PTRE-HIF-1α was identified by endonuclease digestion. This recombinant vector was transfected into HepG2Tet-on cells by means of liposome and its expression was examined by RT-PCR and Western blot under the control of deoxycycline. Results The amplified products were confirmed as the cDNA of HIF-1α by DNA sequencing. The responsive plasmid PTRE-HIF-1α verified by edonuclease digestion, was capable of expression in HepG2Tet-on cells and could be controlled by deoxycycline. Conclusion The responsive plasmid PTRE-HIF-1α of Tet-on expression system is constructed successfully, and it can express under the regulation of deoxycycline in the HepG2Tet-on cells.
