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1.
In Vivo ; 38(2): 539-545, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38418145

RESUMEN

BACKGROUND/AIM: In the literature, the studies about the role of matrix metalloproteinase-2 (MMP-2) in pterygium diagnosis are mainly based on its protein expression. The role of MMP-2 variants has never been examined. The aim of this study was to examine the association of MMP-2 genotypes with pterygium risk. MATERIALS AND METHODS: MMP-2 rs243865 and rs2285053 were genotyped in 140 pterygium cases and 280 non-pterygium controls by typical polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) genotyping technology. RESULTS: The genotypic frequency of MMP-2 rs243865 CC, CT and TT were 86.4%, 12.9% and 0.7% in the pterygium group and 81.1%, 17.1% and 1.8% in the non-pterygium group (p for trend=0.3389). The variant CT and TT carriers had a 0.70- and 0.38-fold pterygium risk (95%CI=0.39-1.26 and 0.04-3.25, p=0.2982 and 0.6686, respectively). As for MMP-2 rs2285053, the genotypic frequency of CC, CT and TT were 67.1%, 28.6% and 4.3% in the pterygium group, non-significantly different from those in non-pterygium group (p for trend=0.7081). The CT and TT carriers had a 0.88- and 0.71-fold pterygium risk (95%CI=0.56-1.38 and 0.27-1.88, p=0.6612 and 0.6456, respectively). The allelic analysis results showed that MMP-2 rs243865 variant T allele was not associated with pterygium risk (7.1% versus 10.4%, OR=0.67, 95%CI=0.39-1.13, p=0.1649). As for MMP-2 rs2285053, the T allele was not associated with pterygium risk either (18.6% versus 21.1%, OR=0.85, 95%CI=0.59-1.23, p=0.4136). CONCLUSION: The genotypes at MMP-2 rs243865 or rs2285053 played minor role in determining individual susceptibility for pterygium among Taiwanese.


Asunto(s)
Conjuntiva , Metaloproteinasa 2 de la Matriz , Pterigion , Humanos , Estudios de Casos y Controles , Conjuntiva/anomalías , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Metaloproteinasa 2 de la Matriz/genética , Metaloproteinasa 7 de la Matriz/genética , Polimorfismo de Nucleótido Simple , Pterigion/genética , Taiwán/epidemiología
2.
Anticancer Res ; 43(1): 381-387, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36585199

RESUMEN

BACKGROUND/AIM: Prostate cancer is one of the most commonly diagnosed malignancies among males worldwide. It has been shown that MMP-7 gene is closely correlated with prostate carcinogenesis. However, the role of the MMP-7 genotypes has been seldom examined among prostate cancer patients. Therefore, the purpose of the study was to evaluate the contribution of MMP-7 promoter genotypes A-181G (rs11568818) and C-153T (rs11568819) to prostate cancer risk in Taiwan. MATERIALS AND METHODS: Two hundred and eighteen prostate cancer patients and 436 sex- and age-matched healthy controls were genotyped for MMP-7 rs11568818 and rs11568819 by polymerase chain reaction-restriction fragment length polymorphism and direct sequencing methodologies. RESULTS: The percentages of wild-type AA, and variant AG and GG genotypes on MMP-7 rs11568818 were 85.3, 13.5, and 1.2% among the prostate cancer cases and 87.6, 10.1, and 2.3% among the healthy controls, respectively (p for trend=0.2557). Interestingly, no MMP-7 rs11568819 genotypes were identified among Taiwanese. The allelic frequency distribution also showed that the variant G allele of MMP-7 rs11568818 seemed not to be a determinant of prostate cancer risk (p=0.7977). There was no joint effect between the genotypes of MMP-7 rs11568818 and age and smoking status on prostate cancer risk. CONCLUSION: rs11568818 and rs11568819 at MMP-7 promoter region, played no role in determining personal susceptibility to prostate cancer in Taiwan.


Asunto(s)
Predisposición Genética a la Enfermedad , Metaloproteinasa 7 de la Matriz , Neoplasias de la Próstata , Humanos , Masculino , Estudios de Casos y Controles , Genotipo , Metaloproteinasa 7 de la Matriz/genética , Polimorfismo de Nucleótido Simple , Neoplasias de la Próstata/genética , Factores de Riesgo , Taiwán/epidemiología
3.
In Vivo ; 36(4): 1676-1683, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35738618

RESUMEN

BACKGROUND: The role of epigenetic alterations in the pathogenesis of retinal degenerative diseases, such as macular degeneration is not well established. This study aimed to evaluate whether treatments with gamma-mangostin can rescue the hydrogen peroxide (H2O2)-induced cytotoxicity in human retinal pigment epithelial (ARPE-19) cells. MATERIALS AND METHODS: ARPE-19 cells were treated with H2O2 alone or with gamma-mangostin plus H2O2 to investigate changes relating to cell viability, appearance of sub-G1 cells, antioxidant enzymes, and apoptotic-related proteins. RESULTS: The data showed that under H2O2 treatment of 400 µM, there was a significant decrease in cell viability and enhanced apoptosis, together with an increased expression of Bax, Bad, cleaved-caspase-3, -8, and -9 at the protein level. On the contrary, the protein expression levels of Bcl2 and Bcl-xl were decreased. Gamma-mangostin pre-treatments (2-16 µM) could effectively prevent all alterations. CONCLUSION: Gamma-mangostin may conduct its eye-protective effects against H2O2-induced oxidative damage via anti- apoptotic and antioxidant mechanisms in ARPE-19 cells.


Asunto(s)
Antioxidantes , Peróxido de Hidrógeno , Antioxidantes/metabolismo , Antioxidantes/farmacología , Apoptosis , Supervivencia Celular , Células Epiteliales/metabolismo , Humanos , Hidrógeno/farmacología , Peróxido de Hidrógeno/toxicidad , Estrés Oxidativo , Especies Reactivas de Oxígeno/metabolismo , Pigmentos Retinianos/metabolismo , Pigmentos Retinianos/farmacología , Xantonas
4.
In Vivo ; 34(1): 51-56, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31882462

RESUMEN

BACKGROUND/AIM: In literature, few studies have examined the diagnostic or prognostic potential of matrix metalloproteinases (MMP) in pterygium, whose formation and progression are closely related to imbalance in the extracellular microenvironment. In this study, we investigated the contribution of MMP7 promoter (A-181G and C-153T) polymorphic genotypes to pterygium risk. MATERIALS AND METHODS: A total of 134 cases and 268 controls were collected and their MMP7 genotypes at A-181G and C-153T were examined by polymerase chain reaction-restriction fragment length polymorphism methodology. RESULTS: The AA, AG and GG genotypes at MMP7 promoter A-181G were non-significantly differentially distributed between the two groups at 85.8, 11.2 and 3.0%, respectively, in pterygium cases and 88.4, 9.7 and 1.9% in controls, respectively (p for trend=0.6822). There was no polymorphic genotype for MMP7 C-153T among our Taiwanese cohort. CONCLUSION: A-181G and C-153T genotypes at MMP7 do not have a direct role in determining Taiwanese susceptibility to pterygium.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , Metaloproteinasa 7 de la Matriz/genética , Pterigion/genética , Anciano , Anciano de 80 o más Años , Pueblo Asiatico/genética , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes/genética , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa/métodos , Polimorfismo de Longitud del Fragmento de Restricción/genética , Polimorfismo de Nucleótido Simple/genética , Pronóstico , Regiones Promotoras Genéticas/genética , Factores de Riesgo
5.
In Vivo ; 32(5): 1045-1050, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30388078

RESUMEN

BACKGROUND/AIM: The breakage of matrix metalloproteinases (MMPs) has been reported to be one of the mechanisms required for tumor invasion, and the expression of MMP-7 in serum is correlated with poor prognosis of urinary bladder cancer patients. However, the role of the MMP-7 genotypes has been seldom examined among bladder cancer patients. Therefore, this study aimed at examining the promoter polymorphic MMP-7 genotypes A-181G and C-153T among Taiwanese bladder cancer patients and evaluate the contribution of the genotypic variants of MMP-7 to bladder cancer risk in Taiwan. MATERIALS AND METHODS: Three hundred and seventy-five bladder cancer patients and the same number of gender- and age-matched healthy controls were genotyped for A-181G and C-153T in the promoter of MMP-7 via polymerase chain reaction-restriction fragment length polymorphism methodology. RESULTS: The frequencies of AA, AG and GG at A-181G of the promoter of MMP-7 were 89.1, 8.8 and 2.1% in the bladder cancer patient group and 87.5, 10.9 and 1.6% in the matched healthy control group, respectively (p for trend=0.5475). There was no polymorphic genotype for MMP-7 C-153T among the Taiwanese population. The comparisons in allelic frequency distribution also support the findings that the G allele may not be the determinant allele for bladder cancer in Taiwan. In addition, the results showed that there is no significant association of the bladder risk with the MMP-7 A-181G genotype, even after adjustment for the possible confounding factors. Furthermore, there is no interaction of the genotypes of MMP-7 with age, gender, smoking and alcohol consumption on bladder cancer risk. CONCLUSION: The results of this study suggest that the two MMP-7 polymorphisms, - A-181G and C-153T, do not play a major role in determining personal susceptibility to bladder cancer in Taiwan.


Asunto(s)
Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Metaloproteinasa 7 de la Matriz/genética , Neoplasias de la Vejiga Urinaria/genética , Adulto , Anciano , Alelos , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Humanos , Masculino , Persona de Mediana Edad , Clasificación del Tumor , Estadificación de Neoplasias , Oportunidad Relativa , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Factores de Riesgo , Taiwán , Neoplasias de la Vejiga Urinaria/diagnóstico
6.
Anticancer Res ; 38(7): 3907-3911, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-29970511

RESUMEN

BACKGROUND/AIM: The family of matrix metalloproteinases (MMPs) is responsible for the maintenance of extracellular matrix component homeostasis and the association of MMP-1 genetic polymorphisms with personal susceptibility to prostate cancer has only been investigated in Turkish and Japan populations and never in Taiwan. In the current study, we aimed to examine the contribution of a polymorphism in the promoter region of MMP-1 to Taiwan prostate cancer. MATERIALS AND METHODS: The MMP-1 rs1799705 polymorphic genotypes were genotyped among 218 prostate cancer patients and 436 healthy controls by the typical polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology. RESULTS: The percentages of 2G/2G, 1G/2G, and 1G/1G for MMP-1 -1607 genotypes were 36.2, 40.4 and 23.4% in the prostate cancer group and 33.7, 44.3, and 22.0% in the healthy control group (p trend=0.6362), respectively. The odds ratios (ORs) after adjusting for age and smoking status for those carrying 1G/2G and 1G/1G genotypes at MMP-1 -1607 were 0.84 (95%CI=0.55-1.21, p=0.3862) and 0.94 (95%CI=0.67-1.53, p=0.9586), respectively, compared to those carrying the wild-type 2G/2G genotype. Supporting these findings, the adjusted OR for those carrying the 1G allele at MMP-1 -1607 was 1.03 (95%CI=0.71-1.45, p=0.6910), compared to those carrying the wild-type 2G allele. CONCLUSION: Our findings suggest that the polymorphic genotypes at MMP-1 promoter -1607 may play a major role in determining personal cancer susceptibility for prostate cancer in Taiwan.


Asunto(s)
Metaloproteinasa 1 de la Matriz/genética , Polimorfismo Genético , Regiones Promotoras Genéticas , Neoplasias de la Próstata/genética , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Taiwán
7.
In Vivo ; 32(1): 41-46, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29275297

RESUMEN

BACKGROUND/AIM: Pterygium is composed of proliferating fibrovascular tissue, and its formation and progression are closely related to the homeostasis of the extracellular microenvironment. However, few studies have examined the contribution of matrix metalloproteinases (MMP) to either diagnostic or prognostic potential in pterygium. In this study, we investigated the contribution of a polymorphism in the promoter region of MMP-8 (-799C/T) and two non-synonymous polymorphisms (Val436Ala and Lys460Thr) to pterygium. MATERIALS AND METHODS: In this study, 134 patients with pterygium and 268 non-cancer controls patients were collected and the MMP-8 -799C/T, Val436Ala and Lys460Thr polymorphic genotypes of each subject were examined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: The results showed that the three polymorphisms investigated were not significantly associated with risk of pterygium. In addition, the stratified analysis showed that there was no interaction between MMP-8 genotype with age or gender on pterygium risk determination. CONCLUSION: Polymorphisms at MMP-8 -799C/T, Val436Ala and Lys460Thr may not mainly contribute to determining personal susceptibility to pterygium in the Taiwanese examined.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , Metaloproteinasa 8 de la Matriz/genética , Polimorfismo de Nucleótido Simple , Pterigion/genética , Anciano , Sustitución de Aminoácidos , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Regiones Promotoras Genéticas/genética , Pterigion/enzimología
8.
In Vivo ; 31(4): 631-635, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28652430

RESUMEN

BACKGROUND/AIM: Mounting evidence has suggested that polymorphisms in the promoters of matrix metalloproteinase (MMP) genes are associated with the risk of many types of cancer, but no study has ever explored these polymorphisms as biomarkers for renal cell cancer (RCC). Recently, it was suggested that serum MMP-7 levels have both diagnostic and prognostic potential for RCC. In this study, we focused on the contribution of two functional polymorphisms in the promoter region of MMP-7 (A-181G and C-153T) to RCC. MATERIALS AND METHODS: These two polymorphisms were genotyped in 92 patients with RCC and 580 controls by PRC-RFLP analysis. RESULTS: The results showed that there is no significant association of the RCC risk with the MMP-7 A-181G genotype, even after adjusted for the possible confounding factors. The MMP-7 C-153T polymorphism was not identified among the subjects investigated. CONCLUSION: Our findings suggest that the two MMP-7 polymorphisms A-181G and C-153T do not play a major role in determining personal susceptibility to RCC in Taiwan.


Asunto(s)
Biomarcadores de Tumor/genética , Carcinoma de Células Renales/genética , Predisposición Genética a la Enfermedad , Metaloproteinasa 7 de la Matriz/genética , Adulto , Anciano , Alelos , Carcinoma de Células Renales/patología , Femenino , Estudios de Asociación Genética , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Pronóstico , Regiones Promotoras Genéticas , Taiwán
9.
Anticancer Res ; 36(9): 4509-14, 2016 09.
Artículo en Inglés | MEDLINE | ID: mdl-27630289

RESUMEN

AIM: Bladder cancer is the sixth most common cancer worldwide and its incidence is particularly high in many developed regions including southwestern Taiwan. However, the genetic contribution to the etiology of bladder cancer is not well-understood. The aim of this study was to evaluate the association of the enhancer of zeste homolog 2 (EZH2) genotypes with Taiwan bladder cancer risk. MATERIALS AND METHODS: Three polymorphic variants of EZH2 were analyzed regarding their association with bladder cancer risk, and three hundred and seventy-five patients with bladder cancer and same number of age- and gender-matched healthy controls recruited were genotyped by the PCR-RFLP method. RESULTS: Among the three polymorphic sites examined, the genotypes of EZH2 rs887569 (C to T), but not rs41277434 (A to C) or rs3757441 (T to C), were positively associated with bladder cancer risk (p for trend =0.0146). Individuals with the EZH2 rs887569 TT genotypes were associated with decreased cancer risk than those with wild-type CC genotype. The stratified analyses showed that EZH2 rs887569 TT genotypes had protective effects on non-smokers but obviously not on smokers. CONCLUSION: Our findings provide evidence that the T allele of EZH2 rs887569 may be associated with the lower risk of bladder cancer development, especially among non-smokers.


Asunto(s)
Proteína Potenciadora del Homólogo Zeste 2/genética , Genotipo , Neoplasias de la Vejiga Urinaria/genética , Anciano , Consumo de Bebidas Alcohólicas , Alelos , Ciclo Celular , Proliferación Celular , Regulación hacia Abajo , Proteína Potenciadora del Homólogo Zeste 2/metabolismo , Femenino , Frecuencia de los Genes , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo Genético , Polimorfismo de Longitud del Fragmento de Restricción , Factores de Riesgo , Fumar , Taiwán/epidemiología , Neoplasias de la Vejiga Urinaria/epidemiología
10.
In Vivo ; 30(5): 605-10, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27566079

RESUMEN

Ultraviolet B (UVB), with a wavelength of 280-320 nm, represents one of the most important environmental factors for skin disorders, including sunburn, hyperpigmentation, solar keratosis, solar elastosis and skin cancer. Therefore, protection against excessive UVA-induced damage is useful for prevention of sunburn and other human diseases. Baicalin, a major component of traditional Chinese medicine Scutellaria baicalensis, has been reported to possess antioxidant and cytostatic capacities. In this study, we examined whether baicalin is also capable of protecting human keratinocytes from UVB irradiation. The results showed that baicalin effectively scavenged reactive oxygen species (ROS) elevated within 4 h after UVB radiation and reversed the UVB-suppressed cell viability and UVB-induced apoptosis after 24 h. Our results demonstrated the utility of baicalin to complement the contributions of traditional Chinese medicine in UVB-induced damage to skin and suggested their potential application as pharmaceutical agents in long-term sun-shining injury prevention.


Asunto(s)
Antioxidantes/administración & dosificación , Flavonoides/administración & dosificación , Queratinocitos/efectos de los fármacos , Sustancias Protectoras/administración & dosificación , Rayos Ultravioleta/efectos adversos , Apoptosis/efectos de los fármacos , Apoptosis/efectos de la radiación , Línea Celular , Proliferación Celular/efectos de los fármacos , Proliferación Celular/efectos de la radiación , Supervivencia Celular/efectos de los fármacos , Daño del ADN/efectos de los fármacos , Humanos , Hiperpigmentación/tratamiento farmacológico , Hiperpigmentación/etiología , Hiperpigmentación/patología , Queratinocitos/patología , Queratinocitos/efectos de la radiación , Queratosis/tratamiento farmacológico , Queratosis/etiología , Queratosis/patología , Especies Reactivas de Oxígeno/metabolismo , Especies Reactivas de Oxígeno/efectos de la radiación , Piel/efectos de los fármacos , Piel/patología , Piel/efectos de la radiación , Neoplasias Cutáneas/tratamiento farmacológico , Neoplasias Cutáneas/etiología , Neoplasias Cutáneas/patología , Quemadura Solar/tratamiento farmacológico , Quemadura Solar/etiología , Quemadura Solar/patología
11.
Anticancer Res ; 36(5): 2205-9, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-27127124

RESUMEN

BACKGROUND/AIM: Renal cell carcinoma (RCC) accounts for approximately 3% of all cancer-related mortalities worldwide and the risk factors for the development of RCC have not yet been fully elucidated. Mounting proteomic evidence suggests that inflammatory process plays a role in RCC etiology and interleukin-10 (IL-10) is an important immunosuppressive cytokine. However, little is known on the contribution of IL-10 genotypes to RCC. This study aimed at evaluating the contribution of IL-10 promoter A-1082G (rs1800896), T-819C (rs3021097), A-592C (rs1800872) genetic polymorphisms to the risk of RCC in Taiwan. MATERIALS AND METHODS: Associations of the three IL-10 polymorphic genotypes with the risk of RCC were examined among 92 RCC patients and 580 age- and gender-matched cancer-free controls by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology. RESULTS: The pilot results showed that the percentages of TT and TC for IL-10 T-819C genotypes were significantly higher in the RCC patient group than those in the healthy control group. The CC genotype carriers were of lower risk for RCC (odds ratio (OR)=0.33, 95% confidence interval (CI)=0.12-0.93, p=0.0369). There is no difference in the distribution of A-1082G or A-592C genotype between the RCC and control groups. CONCLUSION: The CC genotype of IL-10 T-819C genotype may have a protective effect on RCC risk in Taiwan. Further investigation with larger sample size in addition to genotype-phenotype correlation and intracellular mechanisms are our future work.


Asunto(s)
Carcinoma de Células Renales/genética , Interleucina-10/genética , Neoplasias Renales/genética , Polimorfismo Genético , Regiones Promotoras Genéticas , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad
12.
Cancer Genomics Proteomics ; 12(6): 359-67, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26543082

RESUMEN

AIM: The DNA-repair gene X-ray repair cross-complementing group 3 (XRCC3) is important in DNA double-strand break repair and plays a critical part in initiation of carcinogenesis. Triple-negative breast cancer (TNBC) is the most difficult breast cancer subtype with no existing gene-targeting drugs and little knowledge on its genetic etiology. This study aimed to investigate the contribution of the XRCC3 genotype to individual TNBC susceptibility. MATERIALS AND METHODS: A total of 2,464 Taiwan citizens consisting of 1,232 breast cancer cases and 1,232 controls were enrolled in this case-control study, and genotyping of XRCC3 rs1799794, rs45603942, rs861530, rs3212057, rs1799796, rs861539 and rs28903081 were performed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). We also conducted risk-stratified sub-group analyses to determine the association between the genotype and age- and hormone-related characteristics of breast cancer sub-groups. RESULTS: There was no significant difference between breast cancer and control groups in the distributions of the genotypic or allelic frequencies as for the XRCC3 rs1799794 (p=0.5195 and 0.9545), rs45603942 (p=0.3478 and 0.1449), rs861530 (p=0.4567 and 0.5081), rs3212057 (p=1.0000 and 1.0000), rs1799796 (p=0.8487 and 0.7315) and rs28903081 (p=1.0000 and 1.0000), respectively. However, the XRCC3 rs861539 TT genotype was more prevalent in patients with breast cancer [odds ratio (OR)=2.99, 95% confidence interval (CI)=1.62-5.55; p=0.0002], and especially among those who were younger than 55 years (OR=2.61, 95% CI=1.82-3.73; p=0.0001), with first menarche earlier than 12.2 years (OR=2.47, 95% CI=1.74-3.52; p=0.0001), with menopause at 49.0 years old or later (OR=2.53, 95% CI=1.76-3.62; p=0.0001), or with TNBC (OR=2.05, 95% CI=1.46-4.28; p=4.63*10(-4)). CONCLUSION: XRCC3 rs861539 TT is a potential predictive marker for TNBC in Taiwanese women and investigations in other populations are warranted for further universal application in cancer detection and prediction.


Asunto(s)
Proteínas de Unión al ADN/metabolismo , Regulación Neoplásica de la Expresión Génica , Neoplasias de la Mama Triple Negativas/genética , Neoplasias de la Mama Triple Negativas/metabolismo , Adulto , Anciano , Alelos , Biomarcadores de Tumor/metabolismo , Estudios de Casos y Controles , Reparación del ADN , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Menarquia , Persona de Mediana Edad , Polimorfismo de Longitud del Fragmento de Restricción , Polimorfismo de Nucleótido Simple , Factores de Riesgo , Taiwán
13.
Anticancer Res ; 35(5): 2725-30, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25964551

RESUMEN

AIM: Reliable biomarkers are in urgent need for diagnosis, outcome prediction and treatment-effect monitoring for upper tract urothelial carcinomas (UTUC). Although up-regulation of cyclo-oxygenase 2 (COX2) is found in stroma and tumor cells in more than half of the patients with UTUC investigated, the genomic contribution of COX2 to UTUC has not been studied. The study aimed to evaluate the association of six polymorphic genotypes of COX2 with UTUC within a Taiwanese population. MATERIALS AND METHODS: A total of 218 patients with UTUC and 580 healthy controls were genotyped for six COX2 polymorphisms, namely A-1195G, G-765C, T+8473C, intron 1, intron 5 and intron 6, and examined for their association with UTUC risk. RESULTS: The distribution of genotypes of COX2 G-765C and intron 5 were significantly different between patient and control groups (p=0.0001 and 0.0016, respectively), while others were not (p>0.05). The haplotype analysis showed that compared to the GG/TT haplotype of COX2 G-765C/intron 5, those carrying GG/AT variants have a significantly increased risk of UTUC (odds ratio=4.83, 95% confidence interval=1.79-13.06), while those carrying CG/TT variants have a decreased risk (odds ratio=0.26, 95% confidence interval=0.14-0.49). CONCLUSION: Our results suggest that individual and combined COX2 G-765C/intron 5 genotypes play a role in controlling COX2 expression and UTUC development.


Asunto(s)
Carcinoma de Células Transicionales/genética , Ciclooxigenasa 2/genética , Neoplasias Urológicas/genética , Urotelio/patología , Adulto , Anciano , Carcinogénesis/genética , Carcinoma de Células Transicionales/patología , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Neoplasias Urológicas/patología
14.
J Formos Med Assoc ; 114(9): 872-80, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24529551

RESUMEN

BACKGROUND/PURPOSE: To describe the clinical characteristics of a Taiwanese family with X-linked retinoschisis (XLRS) and to investigate the molecular genetics of a novel mutation in the retinoschisin 1 (RS1) gene. METHODS: A total of 15 participants in this XLRS family were analyzed. Complete ophthalmic examinations and fundus photography were performed on 15 family members. These tests identified five affected males and two female carriers. Blood samples were collected, and genomic DNA was extracted. Best-corrected visual acuity, optical coherence tomography (OCT), electroretinogram (ERG), and direct DNA sequence analysis of the RS1 gene were performed on 15 family members. RESULTS: Five affected males, with visual acuity ranging from 0.2 to 0.7, had macular schisis and abnormal retinal pigment epithelium pigmentation. The mixed scotopic ERG "b" wave was more reduced than the "a" wave. OCT revealed typical microcystic schisis cavities within the macula area. Direct DNA sequence analysis revealed a single base pair deletion, 97delT, in all the affected individuals. This deletion resulted in a frameshift mutation of the RS1 gene, causing protein truncation. The affected males in this family showed moderately decreased visual acuity and dysfunction in both cone cells and phototransduction. CONCLUSION: We identified a novel RS1 (97delT) mutation in a Taiwanese family with XLRS. This finding expands the RS1 mutation spectrum and may help to further understand the molecular pathogenesis of XLRS.


Asunto(s)
Proteínas del Ojo/genética , Retinosquisis/genética , Adolescente , Adulto , Anciano , Niño , Análisis Mutacional de ADN , Electrorretinografía , Exones , Femenino , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Mutación , Linaje , Taiwán , Tomografía de Coherencia Óptica , Agudeza Visual , Adulto Joven
15.
Retin Cases Brief Rep ; 6(1): 27-9, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-25390704

RESUMEN

PURPOSE: To report the unusual findings of fluorescein angiography and optical coherence tomography in a case of systemic lupus erythematosus with hypergammaglobulinemia. DESIGN: Interventional case report. RESULTS: A 59-year-old woman had systemic lupus erythematosus but had stopped taking medication for 6 months. Blurred vision was noted, and the fundoscopic findings revealed serous macular detachment. Results of optical coherence tomography demonstrated intraretinal and subretinal fluid, but fluorescein angiography showed no leakage. Her best-corrected visual acuity improved after posterior sub-Tenon triamcinolone injection. CONCLUSION: Patients with atypical macular detachment may be afflicted with a serum immunogammopathy such as multiple myeloma, Waldenström's macroglobulinemia, and benign polyclonal gammopathy. Systemic lupus erythematosus should also be ruled out.

16.
Retin Cases Brief Rep ; 5(4): 348-51, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-25390432

RESUMEN

PURPOSE: To report the effects of oral trimethoprim/sulfamethoxazole and intravitreal bevacizumab injection in the treatment of ocular toxoplasmosis-associated choroidal neovascular lesions (CNV). METHODS: This was a noncomparative, nonrandomized, consecutive case series. All eyes with ocular toxoplasmosis-associated CNV received one intravitreal bevacizumab injection under the coverage of oral trimethoprim/sulfamethoxazole. The changes in best-corrected visual acuity were recorded. Serial fundus photography, fluorescein angiography, optical coherence tomography, and indocyanine green angiography were performed to measure the treatment efficacy. RESULTS: Three eyes of two patients with a history of ocular toxoplasmosis had active CNV demonstrated by fluorescein angiography and optical coherence tomography. Each was treated with oral trimethoprim/sulfamethoxazole and one intravitreal bevacizumab injection. Best-corrected visual acuity, fundus photographs, fluorescein angiography, optical coherence tomography, and indocyanine green angiography all showed favorable results. No ocular or systemic complications were noted. In all three eyes, the CNV subsided and vision improved. CONCLUSION: Oral trimethoprim/sulfamethoxazole is an effective and less expensive antibiotic against Toxoplasma gondii. Intravitreal bevacizumab injection appears to be a well-tolerated treatment for toxoplasmosis-associated CNV and has the potential as an adjuvant therapy to improve final vision. More cases and further studies are required.

17.
Exp Eye Res ; 85(5): 721-31, 2007 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-17870069

RESUMEN

Hypoxia is the most common factor contributing to the pathogenesis of choroidal neovascularization, which is the major cause for blindness and occurs in proliferative diabetic retinopathy and age-related macular degeneration. The purpose of this study is to investigate the role of retinal pigment epithelial (RPE) cells in the regulation of subretinal neovascularization under hypoxia and the possible function of a heat shock protein 90 (HSP90) inhibitor, geldanamycin (GA), in the regulation of VEGF expression. An in vitro hypoxic experimental model was used to mimic the ischemic microenvironment of RPE cells. The cell growth was measured by proliferation assay and the morphological observation was documented by microscope. The gene expression of VEGF, hsp70, hsp90alpha and hsp90beta were measured using semi-quantitative RT-PCR. The VEGF release from RPE cells were detected by ELISA. No alteration in growth rate and cell morphology under 1% O(2) condition for 24h was noticed. The proangiogenic growth factor VEGF, but not bFGF, released from hypoxia-treated cells were significantly higher than those of normoxic controls. A similar tendency of VEGF(165) isoform gene expression, detected by RT-PCR, was noticed in hypoxia-treated cells. Heat shock pretreatment elevated hsp70 and VEGF(165) gene expression and augmented the hypoxia-induced VEGF gene expression and protein release. Pretreatment with GA can significantly suppress the hypoxia-induced VEGF gene expression in and peptide release from RPE cells. These in vitro findings suggest that HSP90 inhibitors could be considered as novel anti-angiogenesis agents for diseases with intraocular neovascularization.


Asunto(s)
Benzoquinonas/farmacología , Hipoxia de la Célula/fisiología , Proteínas HSP90 de Choque Térmico/antagonistas & inhibidores , Lactamas Macrocíclicas/farmacología , Epitelio Pigmentado Ocular/metabolismo , Retina/metabolismo , Factor A de Crecimiento Endotelial Vascular/metabolismo , Línea Celular , Proliferación Celular/efectos de los fármacos , Proteínas del Ojo/metabolismo , Regulación de la Expresión Génica/efectos de los fármacos , Regulación de la Expresión Génica/fisiología , Proteínas HSP90 de Choque Térmico/fisiología , Humanos , Epitelio Pigmentado Ocular/citología , Epitelio Pigmentado Ocular/efectos de los fármacos , Retina/citología , Retina/efectos de los fármacos , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa/métodos , Factor A de Crecimiento Endotelial Vascular/genética
18.
Kaohsiung J Med Sci ; 22(4): 194-8, 2006 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-16679302

RESUMEN

Ptosis on its own is an infrequent initial manifestation of orbital lymphoma. Orbital lymphoma usually presents as a palpable mass with proptosis, diplopia, and conjunctival ("salmon-pink") swelling. We report here a 62-year-old female patient who presented with right eye ptosis. The initial imaging study showed an indistinct enlargement of the superior rectus-levator muscle complex. After 3-4 months, ptosis and upward gazing movement were further restricted. The imaging study revealed a definite soft-tissue mass in the superior orbit surrounding the superior rectus-levator muscle complex. A tumor biopsy through anterior orbitotomy revealed a large diffuse B-cell lymphoma. With the experience of this case, we suggest that orbital lymphoma should be included in the differential diagnosis of ptosis accompanied by impairment of levator muscle function.


Asunto(s)
Blefaroptosis/etiología , Linfoma/complicaciones , Neoplasias Orbitales/complicaciones , Femenino , Humanos , Linfoma/diagnóstico , Linfoma/patología , Imagen por Resonancia Magnética , Persona de Mediana Edad , Neoplasias Orbitales/diagnóstico , Neoplasias Orbitales/patología , Tomografía Computarizada por Rayos X
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