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OBJECTIVE@#To analyze variants of TSC1 and TSC2 genes in a Chinese patient with tuberous sclerosis complex (TSC).@*METHODS@#Peripheral blood samples were collected from the patient and her parents with informed consent. Following extraction of genomic DNA, potential variants of the TSC1 and TSC2 genes was detected by using targeted capture next-generation sequencing (NGS) and Sanger sequencing.@*RESULTS@#The patient was found to harbor a de novo mosaicism variant c.3295_3298delG (Val1100CysfsTer3) of the TSC2 gene, with the proportion of the mutant allele determined as 13.4%, which was confirmed by Sanger sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.3295_3298delG (Val1100CysfsTer3) variant was predicted to be pathogenic (PVS1+PS2+PM2).@*CONCLUSION@#The mosaicism heterozygous variant of c.3295_3298delG of the TSC2 gene, as detected by both NGS and Sanger sequencing, probably underlay the TSC2 in this patient.
Subject(s)
Female , Humans , Mosaicism , Mutation , Tuberous Sclerosis/genetics , Tuberous Sclerosis Complex 1 Protein/genetics , Tuberous Sclerosis Complex 2 Protein/geneticsABSTRACT
Objective To explore the clinical and genetic characteristics of 17 cases with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Guizhou,China.Methods The clinical features of 17 patients with G6PD deficiency were analyzed,DNA samples were obtained from the patients and some mothers,and the exons and flanking intronic sequences of the G6PD gene were analyzed by the polymerase chain reaction and sequencing.Results The cases had diverse phenotypes,these patients had acute haemolytic anaemia triggered by eating broad beans,infections,ingestion of specific drugs or the neonatal period and chronic nonspherocytic haemolytic anaemia.Three cases of the patients had concomitant diseases for α Mediterranean anemia,acute myeloid leukemia M2 type and neonatal anal membrane stenosis,respectively.G1376T,G1388A and A95G were the commonest G6PD variants in patients in Guizhou,China.G1376T,G1388A and A95G mutations were observed in 82.4％ cases.Two patients had only compound variants(c.1311 C ＞ T,IVS11 nt 93 T ＞ C).One case in the Rongjiang County,Guizhou Province had novel compound variants (c.G1388A,IVS10-10 T ＞ G) in the world.A patient's mother in the Guiyang City,Guizhou Province,China had compound variants (c.1376 G ＞ T,1311 C ＞ T,IVS11 nt 93 T ＞ C) as a carrier.Conclusions G6PD deficiency has a wide range of clinical heterogeneity.A novel G6PD compound variant haplotype c.G1388A,IVS10-10 T ＞ G was first found in the world,and the SNP spectrum of G6PD was enlarged.There may be a G6PD compound variant haplotype c.1376 G ＞ T,1311 C ＞ T,IVS11 nt 93 T ＞ C in Guizhou.
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Background Diabetic retinopathy (DR) is one of the leading causes that result in adult irreversible blindness in many countries.Recent researches suggest that neurodegeneration is an important component of DR.To realize the disease process of retinal neutron is very important for prevention and treatment on DR.Objective This study was to investigate the change of retinal nerve fiber layer thickness in patients with type 2 diabetes mellitus.Methods Ninety-six eyes of 48 patients with type 2 diabetes mellitus were enrolled in Peking Union Medical College Hospital.The patients were assigned into non-diabetic retinopathy (NDR) group,background diabetic retinopathy(BDR) group,proliferative diabetic retinopathy (PDR) group and panretinal photocoagulation (PRP) group based on the fundus finding and fundus fluorescein angiography(FFA),and 24 normal subjects with matched age were included as control group.RNFL thickness was measured by GDxVCC system,including temporal,superior,nasal,inferior,total,(TSNIT) average,superior average,inferior average,TSNIT standard deviation and nerve fiber indication.The datas of the RNFL thickness were analyzed and comparison among different groups by one-way analysis of variance and Student Newman Keuls test.Results The TSNIT averages of the NDR group,BDR group,PDR group and PRP group were(56.54±5.28),(56.92±6.49),(53.04±6.14) and(53.17±9.30) μm,respectively,while that of the control group was (59.04±4.37) μm.The TSNIT average,superior average,inferior average,TSNIT standard deviation of the PDR group and PRP group compared with control group were significantly decreased,and the nerve fiber indication of the PDR group and PRP group was significantly increased (P =0.002,0.000,0.002,0.000,0.001 ;P =0.002,0.000,0.001,0.000,0.000).Compared with the control group,the TSNIT average,superior average,inferior average,TSNIT standard deviation were insignificantly decreased,and the nerve fiber indication was insignificantly increased in the NDR group and BDR group (P =0.187,0.235,0.333,0.106,0.202 ;P=0.262,0.063,0.072,0.098,0.062).Conclusions The decline of the RNFL thickness appears prior to DR findings.The RNFL thinning of PDR and PRP patients suggests the degeneration of neurons and atrophy of axonal.The neurodegeneration is an important component of DR.
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Background Basic fibroblast growth factor(bFGF)secreted by cornea after injury is important to cytothesis,collagen fibers reconstruction and axons recovery.However,the local bFGF is not enough for the reparation process.Objective This study aimed to observe the findings of corneal collagen and nerve recovery under the confocal microscopy through focusing(CMTF) in the eyes with intervene of exogenous recombinant bFGF(rbFGF) after excimer laser in situ keratomileusis(LASIK).Methods LASIK rabbit models were binocularly created in 34 clean New Zealand white rabbits.The tobramycin combined with dexamethasone were dropped after operation for 10 days in bilateral eyes.rbFGF was topically administered in the right eyes of rabbits from 1 day through 3 months after LASIK,and lubricant was used in the left eyes at the same way.The corneal collagen and nerve recovery,keratocyte and endothelial cell counting were observed with CMTF at the 1st week,2nd week,2nd month,3rd month and 5th month after LASIK.Results Total 19 rabbits were meted the request of LASIK models.The keratocyte densities in anterior stroma of both groups reached the lowest level at the 2nd week and the highest level at the 3rd month.Otherwise,haze changed on the contrary.No statistically significant differences were found in anterior stroma keratocyte densities,haze grade,grey value between rbFGF group and lubricant group at various time points after operation(P＞0.05).The nerve cord densities of both groups were increased gradually,and those under the epithelial basement membrane were more dominant.The nerve density of the anterior stroma of rbFGF group was significant higher than the lubricant one in the 2nd group(P=0.038).The considerably elevated the subepithelial nerve density value was also seen in rbFGF group compared with lubricant at 5 months after operation(Z=-2.060,P=0.039).No any corneal neovascularization occurred in both groups through experiment duration.The positive correlation was found between grey value with haze grade in rbFGF group(b=22.687,F=37.975,P=0.000) and lubricant group(b=20.410,F=18.516,P=0.000).However,haze grade was not significant correlated with stromal keratocyte density(rbFGF group:b=0.001,F=0.164,P=0.668;lubricant group:b=-0.002,F=1.896,P=0.178).Conclusion Exogenous bFGF can improve the recovery of corneal nerve and regeneration of keratocyte after LASIK.No evidence of bFGF promoting corneal neovascularization is found in this experiment.
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<p><b>OBJECTIVE</b>To investigate the clinical significance of the Octopus 101 GKP kinetic and static automated perimetry in the diagnosis of the primary open angle glaucoma (POAG).</p><p><b>METHODS</b>Thirty POAG patients (POAG group) and 34 normal individuals (control group) were detected with Octopus 101 GKP static and kinetic perimetry with GKP and TOP program from October 2006 to March 2007. The visual acuity, intraocular pressure (IOP), cupping/disc (C/D) ratio, mean defect (MD), loss variance (LV), areas of isopter, and testing time were analyzed.</p><p><b>RESULTS</b>The mean visual acuity, mean IOP and mean C/D ratio were significantly different between POAG group and control group (P = 0.000), and so was the testing time (P = 0.001). The mean test time was (307.78 +/- 134.50) s in the POAG group and was (228.12 +/- 75.33) s in the normal group. No linear correlation was found between the IOP and the areas of isopter or MD between these two group. The visual parameters (I 2e and III 4e) as to the areas of isopter of POAG were significantly different (P = 0.000), and so were the MD, LV and areas of isopter (P = 0.000). Static perimetry had a sensitivity of 80% and a specificity of 45%, and kinetic perimetry had a sensitivity of 86% and a specificity of 63%. The combined method of static and kinetic approaches had a sensitivity of 90%.</p><p><b>CONCLUSIONS</b>The Octopus 101 GKP static and kinetic perimetry can perform an automated test that combines the advantages of both kinetic and static perimetry, resulting in a decreased subjectivity and individual difference by adjusting the response time and improved accuracy of test results. By changing stimulus size, background illumination, and stimulus angular velocity, the combination of the kinetic and static test may provide a higher sensitivity in the diagnosis of the early stage of POAG, particularly in patients with early peripheral visual field defect.</p>
Subject(s)
Humans , Glaucoma, Open-Angle , Diagnosis , Visual Field Tests , MethodsABSTRACT
Objective To explore the changes of Nogo-A mRNA and Nogo receptor(Ng-R) mRNA expressions in hippocampus of immature rats after febrile seizures(FS).Methods One hundred and twenty-seven male SD rats(15 days) were randomly divided into control group(immersed in 37 ℃ water,n=40)and hyperthermia treated group(immersed in 44.5 ℃ water,n=87).The latter was further divided into febrile control group(n=42) and FS group(n=45) according to whether seizures occurred or not.Each group was further divi-ded into 5 groups according to different therapies(1,3,5,7,10 times treatment).Then 5 cases of the 8 rats were randomly used to observe the expressions of Nogo-A mRNA,Ng-R mRNA in hippocampus by using reverse transcriptase polymerase chain reaction(RT-PCR).Three of the 8 rats were randomly used to observe the changes of neurons and mossy fiber sprouting(MFS) in hippocampus by Nissl and Timm staining.Results 1.No seizures occurred in normal control group.Seizures occurred in 2 rats of febrile control group.In FS group,various seizures occurred such as nodding spasms,tonic seizures,clonic seizures and tonic-clonic seizures,2 rats died of drowning and 3 rats died of status epilepticus.2.The expressions of Nogo-A mRNA,Ng-R mRNA in the immature rats′ hippocampus became up-regulated after the 7th and 10th seizure,significantly higher than those of the other 2 control groups(Pa
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<p><b>OBJECTIVE</b>To investigate the progression of visual field loss and to explore the prognosis of glaucomatous optic neuropathy in patients with chronic angle-closure glaucoma (CACG) after their intraocular pressures were well controlled under 21 mmHg.</p><p><b>METHODS</b>Forty-seven eyes of 29 patients in the Department of Ophthalmology in PUMC Hospital were included. All the patients had at least two separate tests of visual fields using the 24-2 program of the Humphery Visual Field Analyzer after their intraocular pressure were well controlled under 21 mmHg after sugery. The visual fields of patients were followed routinely for at least 1 year. In addition, all patients were divided into 2 groups according to follow-up period: 1-2 years group and over 2 years group. Visual field scores were calculated with the Advanced Glaucoma Intervention Study (AGIS) method. The visual fields were divided 5 sections and the sensitivity and defect depth of each section were calculated.</p><p><b>RESULT</b>No statistically significant differences were found in terms of AGIS scores, localized sensitivities and localized defects within the time interval of the observation.</p><p><b>CONCLUSION</b>Glaucomatous optic neuropathy is not likely to progressively deteriorate in CACG cases once their intraocular pressure are well controlled under 21 mmHg.</p>
Subject(s)
Aged , Female , Humans , Male , Middle Aged , Follow-Up Studies , Glaucoma, Angle-Closure , General Surgery , Intraocular Pressure , Optic Disk , Optic Nerve Diseases , Retrospective Studies , Visual FieldsABSTRACT
Objective To explore the early manifestation of childhood autism.Methods Fifty-one childhood autism were selected as autistic group,and 40 cases of healthy children were selected as healthy control group.All children were investigated retrospectively about social competence,language development,repetitive motor actions and special interests before 18 month-old by questionnaire.All results were analyzed by SPSS 11.5 software.Results Compared with healthy control group,children in autistic group presented a series of abnormal manifestations before 18 month-old,including social competence,language development,repetitive motor actions and special interests(Pa