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ABSTRACT: To compare the clinical efficacy of intravitreal injections of bevacizumab and ranibizumab for treating Chinese patients with neovascular age-related macular degeneration (AMD).
Among 60 Chinese patients with exudative AMD (60 eyes), 28 received intravitreal bevacizumab injections (1.25mg) and 32 received intravitreal ranibizumab injections (0.5mg), once a month for 3 months and were followed for a total of 6 months. Monthly optical coherence tomography (OCT) was used to determine whether the patients received additional treatments during the follow-up. We compared the baseline and 6-month follow-up values of mean best-corrected visual acuity (BCVA) and central retinal thickness (CRT) in both groups of patients. We also compared the occurrence of adverse events.
At the 6-month follow-up, the mean BCVA (logMAR) of the bevacizumab and ranibizumab treatment groups improved from the baseline measurements of 0.72±0.23 and 0.73±0.22 to 0.47±0.14 and 0.45±0.20, respectively (P<0.05 for both groups). However, the change was not significantly different between the two groups. As evaluated by OCT, CRT decreased from 366.71±34.72µm and 352±36.9µm at baseline to 250.86±41.51µm and 243.22±41.38µm in the bevacizumab and ranibizumab groups, respectively (P<0.05 for both groups). However, the change was not significantly different between the two groups. There were no severe local adverse reactions or systemic adverse events.
Intravitreal bevacizumab and ranibizumab have equivalent effects on BCVA and CRT and appeare safe over the short-term.
International Journal of Ophthalmology 01/2013; 6(2):169-73. · 0.04 Impact Factor
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ABSTRACT: In tonal languages such as Mandarin Chinese, suprasegmental tones are used to signal word meaning besides consonants and vowels. To reveal memory traces for tonal language words, we presented native Mandarin Chinese speakers with a sequence of spoken syllables as standards and disyllables as deviants in a passive oddball paradigm. The second syllable of each disyllable carried critical tonal information that would define the disyllable either as a meaningful word or as a meaningless pseudoword. The words and pseudowords were acoustically and phonologically matched as well as counterbalanced. The auditory event-related potential in response to words was more negatively deflected than that in response to pseudowords. This effect was most prominent 164 ms after the word recognition point. Our study indicates an activation of memory traces for tonal language words.
Psychophysiology 08/2012; 49(10):1353-60. · 3.29 Impact Factor
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Acta ophthalmologica 04/2012; · 2.44 Impact Factor
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ABSTRACT: In 2009, ASCO/CAP expanded its human epidermal growth factor receptor type 2 (HER2) testing guideline to define HER2 genetic heterogeneity (GH). However, the clinical significance of GH is unclear. We investigated the impact of HER2 GH on HER2 testing and studied its clinicopathologic significance. Paraffin-embedded tumor tissues of surgical resections of 617 non-consecutive breast carcinoma patients were studied by routine HER2 fluorescence in situ hybridization (FISH). HER2 GH was evaluated, and the results were correlated with HER2 protein expression by immunohistochemistry and HER2 gene amplification by FISH, and with various clinicopathologic parameters. HER2 GH was observed in 15.2 % (94/617) of the patients. It was associated with low-to-middle level of HER2 expression, and with none-to-low level of HER2 gene amplification. Among the 17 patients with equivocal HER2 FISH results, 35.3 % (6/17) of tumors displayed GH. In contrast with HER2-positive tumors without GH, tumors with HER2 GH demonstrated significant association with lower histologic grade, smaller tumor size, and proclivity to hormone receptor expression. HER2 GH is a substantial cause of equivocal HER2 testing results of breast cancer by FISH. Tumors with HER2 GH showed that biologic features resemble more of HER2-negative tumors than HER2-positive tumors without GH. The findings indicate a need of the guidelines to clarify whether tumors with HER2 GH truly benefit from HER2-targeted therapy of breast cancer.
Breast Cancer Research and Treatment 04/2012; 134(3):1095-102. · 4.43 Impact Factor
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ABSTRACT: To evaluate the efficacy and safety of intravitreal bevacizumab as primary treatment of choroidal neovascularization secondary to punctate inner choroidopathy.
Twelve eyes of 12 patients with subfoveal or juxtafoveal choroidal neovascularization secondary to punctate inner choroidopathy received intravitreal bevacizumab injection (1.25 mg) in this prospective case series. Injection was repeated if persistent or recurrent activity of choroidal neovascularization was indicated by optical coherence tomography or fundus fluorescein angiography at 1-month intervals. Visual, clinical, angiographic, and anatomical changes were observed over a 12-month follow-up period.
After 12 months of follow-up, mean logarithm of the minimum angle of resolution best-corrected visual acuity improved from 0.49 (20/62 in Snellen equivalent) at baseline to 0.23 (20/34 in Snellen equivalent; P < 0.001). Mean central retinal thickness determined by optical coherence tomography decreased from 333 μm to 241 μm (P < 0.001). All eyes (100%) had stable or improved vision, and 9 eyes (75%) showed an improvement of ≥ 2 lines. All lesions converted to the cicatricial phase after 12 months of follow-up. No drug-related systemic or ocular side effects were observed.
Intravitreal bevacizumab is well tolerated and improves best-corrected visual acuity in choroidal neovascularization secondary to punctate inner choroidopathy over a 12-month period.
Retina (Philadelphia, Pa.) 04/2012; 32(6):1106-13. · 2.93 Impact Factor
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ABSTRACT: To study the expression of Notch1, MMP-2 and MMP-9 in glioma patients and their relationship with progression and prognosis of gliomas.
Sixty-four cases of glioma were included in this study. There were four cases of grade 1 tumor, twenty-five cases of grade 2, nine cases of grade 3, and twenty-six cases of grade 4. Immunohistochemistry (SP staining method) was used to detect the expression of Notch1, MMP-2 and MMP-9 in glioma tissues and adjacent non-tumor tissues, and the patients were followed up.
Notch1, MMP-2 and MMP-9 were detected in glioma tissues but not in adjacent non-tumor tissues. The expression of Notch1 was increased with the pathological grade of the gliomas (r = 0.262, P < 0.05). The survival time of patients with strong expression of Notch1 was 31.0 months, significantly shorter than that of patients with non-strong positive (negative, weak and moderately) Notch1 expression (53.0 months, P < 0.05). Significant difference in survival time was observed between patients with negative and positive expression of MMP-9 (P < 0.05).
Notch1, MMP-2 and MMP-9 are closely correlated with the progression and prognosis of malignant gliomas. Notch1 may participate in the expression regulation of MMP-2 and MMP-9. Compared with MMP-2, MMP-9 may play a more important role in determining the prognosis of malignant glioma. Notch1 and MMP-9 may become new biological markers for prognosis of patients with malignant glioma.
Zhonghua zhong liu za zhi [Chinese journal of oncology] 01/2012; 34(1):26-30.
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ABSTRACT: alpha-crystallin is a molecular chaperone that maintains the optical properties of the lens and delays the onset scattering caused by aging-related protein aggregation. In this research, we found that the missense mutation R116H resulted in an altered size distribution, impaired packing of the secondary structures and modified quaternary structure with great hydrophobic exposure. The mutant exhibited a substrate-dependent chaperone (aggregation-inhibition) or anti-chaperone (aggregation-promotion) effect. Equilibrium unfolding experiments indicated that the mutation stabilized an aggregation-prone intermediate which was not populated during the unfolding of the wild-type protein. The accumulation of this intermediate greatly promoted the formation of non-native large oligomers or aggregates during unfolding. These results suggested that both the aggregation of the mutant upon stress and co-deposition with the target proteins were likely to be responsible for the onset of cataract.
Biochimica et Biophysica Acta 04/2010; 1804(4):948-56. · 4.66 Impact Factor
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ABSTRACT: In this article, a spectrophotometric color matching algorithm based on Stearns-Noechel model is proposed. This algorithm was run to predict recipes for 48 viscose blends. Color differences between the original blend samples and the calculated were expressed in CIELAB units (10°standard observer). M (the empirical constant in Stearns-Noechel model) value was determined by median analysis. When M equals to 0.09, the best fit was obtained for three-components fiber blends. In that case, the maximum color difference is 1.22 CIELAB units and the average computed color difference is 0.56 CIELAB units for 36 three-components fiber blends under D65 illuminant. When M is from 0.03 to 0.06, the best fit was obtained for four-components fiber blends. In that case, the maximum color difference is 4.48 CIELAB units and the average computed color difference is 1.02 CIELAB units for 12 four-components fiber blends under D65 illuminant. It is demonstrated that the algorithm can be used in color matching of fiber blends. © 2009 Wiley Periodicals, Inc. Col Res Appl, 34, 108–114, 2009
Color Research & Application 02/2009; 34(2):108 - 114. · 0.94 Impact Factor
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ABSTRACT: Idiopathic congenital nystagmus (ICN) is a common oculomotor disorder characterized by bilateral involuntary, periodic, and predominantly ocular oscillations. X-linked ICN (XLICN) with incomplete penetrance in females is the most common inheritance form, and FERM domain containing (FRMD7) mutation is the major reason for XLICN families. To date, 39 FRMD7 mutations have been identified, and 50% of the XLICN pedigrees have yielded FRMD7 mutations in the Western population. In this study, we identified a novel frameshift mutation (c.1274-1275delTG) in the FRMD7 gene in six XLICN pedigrees. Incorporated with data reported from other two Chinese groups, approximately 47% XLICN pedigrees were caused by the FRMD7 mutation in China. Therefore, this study showed that mutation analysis of the FRMD7 gene had diagnostic value not only in the Western population but also in one of the biggest Eastern populations, Chinese XLICN families. In addition, the results indicated the type of FRMD7 mutation associated with the penetrance of female carriers of XLICN.
Genetic Testing 01/2009; 12(4):607-13. · 1.17 Impact Factor
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ABSTRACT: Mutations in the fibrillin-1 (FBN1) gene have been identified in patients with Marfan syndrome (MFS) and Marfan-like connective tissue disorders. In this study, two Chinese families were recruited. The patients in family 1 were well characterized with MFS, while those in family 2 displayed Marfan-like disorders such as ectopia lentis (EL) and marfanoid habitus, but did not develop cardiovascular diseases. We aimed to analyze the pathogenic mutations and their relationships with phenotypes in these two Chinese families. All participants underwent complete physical, ophthalmic, and cardiovascular examinations. The 65 exons and flanking intronic sequences of FBN1 were amplified by polymerase chain reaction, and screened for mutations by denaturing high-performance liquid chromatography and sequencing. One hundred and fifteen unrelated controls were analyzed using the same methods to confirm the mutations. In family 1, we identified the mutation p.C499S in the calcium-binding epidermal growth factor (cbEGF)-like domain 3 of FBN1. In family 2, the mutation p.C908Y was identified in an interdomain region of the hybrid motif 2 linked to the cbEGF-like domain 10. It can be concluded that FBN1 mutations involving cysteine substitutions are usually associated with MFS and EL with some MFS features. Moreover, pathology seemed more serious when the mutations disrupted the three disulfide bridges in the cbEGF-like domains, which was more likely to cause typical MFS than if the mutations occurred in the hybrid motifs. Our data preliminarily establish a genotype-phenotype correlation in the diagnostic process of MFS and predominant EL with Marfan-like features.
Genetic Testing 07/2008; 12(2):325-30. · 1.17 Impact Factor
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Feng Gu,
Weixiao Luo,
Xin Li,
Zhuoqun Wang,
Shuang Lu,
Meng Zhang,
Baojian Zhao,
Siquan Zhu,
Shan Feng,
Yong-bin Yan,
Shangzhi Huang,
Xu Ma
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ABSTRACT: Hereditary cataract is a phenotypically and genetically heterogeneous lens disease that is responsible for a significant proportion of the visual impairment and blindness that occurs in children. In a five-generation Chinese family with autosomal dominant inherited congenital cataract, clinical examination showed three cataract phenotypes: punctuate, nuclear, and total cataracts. Linkage analysis was performed and positive two-point LOD scores (with maximum of 4.43 and 4.27 at theta=0) were obtained for markers D21S1411 and D21S1890 on chromosome 21q22.3, flanking the CRYAA (alphaA-crystallin-encoding gene) locus. Sequencing of CRYAA revealed a novel heterozygous G>A transition (c.346G>A) in exon 3 that cosegregated with the disease phenotype and results in a conservative substitution of Arg to His at codon 116 (p.R116H). To understand the molecular basis of cataract formation, mutant and wild-type alphaA-crystallins were expressed in E. coli. RP-HPLC (reverse phase-high-performance liquid chromatography) suggested an increased hydrophobicity of the mutant recombinant protein, compared to that of wild-type alphaA-crystallins. Furthermore, loss of chaperone activity of the mutant was seen in DTT (DL-dithiothreitol)-induced insulin aggregation assay. FPLC (fast protein liquid chromatography) purification showed that the His-116 mutant protein had increased binding affinity to lysozyme. Gain of activated lysozyme binding, elevation of hydrophobicity and loss of chaperone activity of the mutant protein may be some of the molecular mechanisms underlying cataract in this large family.
Human Mutation 06/2008; 29(5):769. · 5.69 Impact Factor
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ABSTRACT: To identify the molecular defect underlying an autosomal dominant congenital nuclear cataract in a Chinese family.
Twenty-two members of a three-generation pedigree were recruited, clinical examinations were performed, and genomic DNA was extracted from peripheral blood leukocytes. All members were genotyped with polymorphic microsatellite markers adjacent to each of the known cataract-related genes. Linkage analysis was performed after genotyping. Candidate genes were screened for mutation using direct sequencing. Individuals were screened for presence of a mutation by restriction fragment length polymorphism (RFLP) analysis.
Linkage analysis identified a maximum LOD score of 3.31 (recombination fraction [theta]=0.0) with marker D22S1167 on chromosome 22, which flanks the beta-crystallin gene cluster (CRYBB3, CRYBB2, CRYBB1, and CRYBA4). Sequencing the coding regions and the flanking intronic sequences of these four candidate genes identified a novel, heterozygous C-->T transition in exon 6 of CRYBB1 in the affected individuals of the family. This single nucleotide change introduced a novel BfaI site and was predicted to result in a nonsense mutation at codon 223 that changed a phylogenetically conserved amino acid to a stop codon (p.Q223X). RFLP analysis confirmed that this mutation co-segregated with the disease phenotype in all available family members and was not found in 100 normal unrelated individuals from the same ethnic background.
This study has identified a novel nonsense mutation in CRYBB1 (p.Q223X) associated with autosomal dominant congenital nuclear cataract.
Molecular vision 01/2008; 14:727-31. · 2.20 Impact Factor
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ABSTRACT: To identify the gene responsible for causing an X-linked idiopathic congenital nystagmus (XLICN) in a six-generation Chinese family.
Forty-nine members of an XLICN family were recruited and examined after obtaining informed consent. Affected male individuals were genotyped with microsatellite markers around the FRMD7 locus. Mutations were comprehensively screened by direct sequencing using gene specific primers. An X-inactivation pattern was investigated by X chromosome methylation analysis.
The patients showed phenotypes consistent with XLICN. Genotype analysis showed that male affected individuals in the family shared a common haplotype with the selected markers. Sequencing FRMD7 revealed a G>T transversion (c.812G>T) in exon 9, which caused a conservative substitution of Cys to Phe at codon 271 (p.C271F). This mutation co-segregated with all affected individuals and was present in the obligate, non-penetrant female carriers. However, the mutation was not observed in unaffected familial males or 400 control males. Females with the mutant gene could be affected or carrier and they shared the same inactivated X chromosome harboring the mutation in blood cells, which showed there is no clear causal link between X-inactivation pattern and phenotype.
We identified a novel mutation in FRMD7 and confirmed the role of this mutation in the pathogenesis of X-linked congenital nystagmus.
Molecular vision 01/2008; 14:56-60. · 2.20 Impact Factor
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ABSTRACT: Multi-walled carbon nanotubes grew directly on wires of stainless steel mesh in controllable methane diffusion flames. The formation and morphology of carbon nanotubes were dependent on gas composition of the flames. On pre-etched mesh wires with HCl, high density of carbon nanotubes were synthesized with uniform outer diameters of 60 nm and large inner diameters of 50 nm. With the high yield of carbon nanotubes, less carbon impurities were formed in the process. A mechanistic model was proposed in detail to suggest the formation of catalyst directly on bulk surface and explain the whole process of carbon nanotubes growth in this study.
Journal of Alloys and Compounds 01/2008; 463:317-322. · 2.29 Impact Factor
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ABSTRACT: Congenital cataract is a highly heterogeneous disorder at both the genetic and phenotypic levels. This study was conducted to identify disease locus for autosomal dominant congenital cataracts in a four generation Chinese family.
Family history and clinical data were recorded. All the members were genotyped with microsatellite markers which are close to the known genetic loci for autosomal congenital cataracts. Two-point Lod scores were obtained using the MLINK of the LINKAGE program package (ver 5.1). Candidate genes were amplified by polymerase chain reaction (PCR) and direct cycle sequencing.
The maximum Lod score of Zmax-2.11 was obtained with three microsatellite markers D22S258, D22S315, and D22S1163 at recombination fraction theta=0. Haplotype analysis showed that the disease gene was localized to a 18.5 Mbp region on chromosome 22 flanked by markers D22S1174 and D22S270, spanning the beta-crystallin gene cluster. A c.752T-->C mutation in exon 6 of CRYBB1 gene, which resulted in a heterozygous S228P mutation in predicted protein, was found to cosegregate with cataract in the family.
This study identified a novel mutation in CRYBB1 gene in a Chinese family with autosomal dominant congenital cataract. These results provide strong evidence that CRYBB1 is a pathogenic gene for congenital cataract.
Chinese medical journal 05/2007; 120(9):820-4. · 0.86 Impact Factor
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ABSTRACT: To identify the causitive mutation in a five-generation family with autosomal dominant congenital total cataract.
Clinical and ophthalmological examinations were performed on the affected and unaffected family members. All the members were genotyped with microsatellite markers at loci that were considered to be associated with cataracts. Linkage analysis was performed after genotyping. A mutation was detected by direct sequencing using gene specific primers.
Affected individuals in this family showed total cataract. The disease gene was mapping between to a 15.5 Mb interval bounded by D12S368 and D12S1676. A positive two-point LOD score (3.21 at recombination fraction 0) was obtained for the marker D12S90, flanked by D12S368 and D12S1052, on chromosome 12q13.1-21.1. This chromosome encompasses the Major Intrinsic Protein (MIP, MIP26) of the lens, also called aquaporin 0 (AQP0). Sequencing the coding regions of MIP revealed a C>T transition at nucleotide 97 in exon 1 that caused a substitution of arginine (R) to cysteine (C) at codon 33 (p.R33C). This mutation cosegregated with all affected individuals and was not observed in unaffected or in 100 normal unrelated individuals.
This study has identified the first dominant cataract mutation in MIP that is located outside the phylogenetically conserved transmembrane domain.
Molecular vision 01/2007; 13:1651-6. · 2.20 Impact Factor
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ABSTRACT: To identify the genetic defect of osteogenesis imperfecta (OI) type I in a large Chinese family of five generations.
Seventeen members in an OI type I family were recruited, and clinical examinations were performed. All members were genotyped with microsatellite markers at loci associated with OI. A two-point LOD score was calculated using the Linkage package. A mutation was detected by direct sequencing.
All affected individuals in the family had fractured a bone more than once, and their sclerae were blue. Significant evidence of linkage was obtained at markers D17S1180 (LOD score [Z]=2.91, at recombination fraction [theta]=0.0) and D17S1319 (Z=2.20, at theta=0.0), respectively. Sequencing of the COL1A1 gene revealed a C>T transition in exon 36, which caused a substitution of Gln at codon 644 to a stop codon (Q644X). This mutation was not observed in unaffected or 100 normal unrelated individuals.
This study is the first report that OI is associated with the mutation Q644X of COL1A1.
Molecular vision 01/2007; 13:360-5. · 2.20 Impact Factor
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ABSTRACT: To report the clinical experience during collecting sperm samples in the Fragile X syndrome (FXS) male patients.
Two different polymerase chain reaction (PCR) based methods were used for the molecular diagnosis of FXS. Sperm collection was done mostly according to the laboratory manual of the World Health Organization.
We failed to collect sperm samples from five Fragile X subjects aged 18-60 years as a result of an unexpected erectile dysfunction (ED). Multiple examinations of the same subject at different times, and of different subjects from different provinces examined by different physicians, showed the same result consistently in all the five subjects.
Erectile reflex is an instinctive response in all healthy males. The absence of erection can be caused by hormonal, physical or neuronal malfunction. As hormonal profiles were reported to be generally normal in Fragile X men, we propose that an unknown physical factor or the neuronal circuit, or both, underlying the erection is compromised. The finding of this symptom in Fragile X patients may help better understand the clinical spectrum and pathogeneses of the disease.
Asian Journal of Andrology 08/2006; 8(4):483-7. · 1.52 Impact Factor
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ABSTRACT: To identify the genetic defect in autosomal dominant congenital cataracts in a six generation Chinese family.
Clinical and ophthalmological examinations were performed on the affected and unaffected family members. All the members were genotyped with microsatellite markers at loci which were considered to be associated with cataracts. A two-point LOD score was calculated using the Linkage package after genotyping. A mutation was detected by direct sequencing using gene specific primers.
Clinical heterogeneity was observed within this family, three affected individuals showed nuclear cataract and others had coralliform cataracts. Significant evidence of linkage was obtained at markers D2S325 (LOD score [Z]=3.10, recombination fraction [theta]=0.0) and D2S1782 (Z=5.97, theta=0.0), respectively. Haplotype analysis indicated that the cataract gene was close to those two markers. Sequencing of the gammaD-crystallin gene (CRYGD) revealed a C>T transition in exon 2, that causes a conservative substitution of Arg to Cys at codon 14 (R14C). This mutation co-segregated with all affected individuals and was not observed in unaffected or 100 normal unrelated individuals. Bioinformatic analyses also showed that a highly conserved region was located at Arg14.
This study is the first reported case with phenotype of coralliform/nuclear cataract that associated with the mutation of Arg14Cys (R14C) CRYGD.
Molecular vision 01/2006; 12:26-31. · 2.20 Impact Factor
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ABSTRACT: Flower-shaped NiO architectures have been synthesized successfully through annealing α-Ni(OH)2 precursor, which are obtained on plane alloy substrate by a hydrothermal route. The SEM results show that these structures are composed of porous NiO nanosheets. Hexamethylenetetramine (HMT) was proved to be effective in promoting the self-organization of α-Ni(OH)2 nanosheets into flower-shaped architectures during hydrothermal treatment. The morphology of NiO architectures could be readily changed by adjusting the reaction temperature. The formation processes of these structures were discussed. Furthermore, the as-formed NiO architectures have been used as catalysts for the formation of carbon nanotubes in methane diffusion flame and show good catalytic activity.
Journal of Alloys and Compounds.
