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1.
Clin Transl Oncol ; 21(12): 1634-1643, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30911882

RESUMEN

OBJECTIVE: To assess the effect of the intraoperative application of the Aquamantys® system to treat the hepatic resection margin on local and overall recurrence of HCC. METHODS: We retrospectively analyzed 101 patients admitted from November 2016 to June 2018 who underwent hepatectomy using the Aquamantys® as hemostatic device, who were matched with 101 patients (control group) using conventional hemostatic devices through PSM. Univariate and multivariate analyses of recurrence-free survival (RFS) and local recurrence-free survival (LRFS) were performed using the Cox proportional hazard model. RESULTS: There were no significant differences in baseline data and surgical procedures between the two groups. The Aquamantys® group showed less blood loss (P = 0.005) and a lower blood transfusion rate (P = 0.036), while the incidences of postoperative complications of the two groups showed no difference (P = 0.266). OS rates of the Aquamantys® group and the control group were 82.6% and 84.2%, respectively (P = 0. 446), and RFS rates were 65.5% and 58.2%, respectively (P = 0.153), with no significant differences. The Aquamantys® group and the control group had two cases and 11 cases of local recurrence, respectively, with LRFS rates of 98% and 87.9%, respectively, in the follow-up period, corresponding to a significant difference (P = 0.011). Multivariate analysis showed that microvascular invasion (MVI), tumor diameter > 5 cm, and the control group were independent risk factors for LRFS. CONCLUSION: Our results indicate that application of the Aquamantys® system in hepatectomy can reduce local recurrence, but it can neither reduce overall recurrence nor improve OS.


Asunto(s)
Carcinoma Hepatocelular/cirugía , Electrocirugia/instrumentación , Hemostasis Quirúrgica/instrumentación , Hepatectomía , Neoplasias Hepáticas/cirugía , Recurrencia Local de Neoplasia , Pérdida de Sangre Quirúrgica/prevención & control , Transfusión Sanguínea/estadística & datos numéricos , Carcinoma Hepatocelular/prevención & control , Estudios de Casos y Controles , Supervivencia sin Enfermedad , Femenino , Hemostasis Quirúrgica/métodos , Humanos , Neoplasias Hepáticas/prevención & control , Masculino , Márgenes de Escisión , Persona de Mediana Edad , Recurrencia Local de Neoplasia/prevención & control , Puntaje de Propensión , Modelos de Riesgos Proporcionales , Análisis de Regresión , Estudios Retrospectivos
2.
Clin Transl Oncol ; 21(8): 1026-1033, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-30712236

RESUMEN

PURPOSE: Flap endonuclease 1 (FEN1) is up-regulated by estrogen (17ß-estradiol, E2) and related to cisplatin resistance of human breast cancer cells. Letrozole, an aromatase inhibitor, suppresses the change of testosterone into estrogen and is frequently used to treat breast cancer. However, the effects of letrozole on FEN1 expression and cisplatin sensitivity in breast cancer cells overexpressing aromatase have not been revealed. METHODS: The expression of FEN1 and the proteins in ERK/Elk-1 signaling were evaluated by RT-PCR and Western blot. Cisplatin sensitivity was explored through CCK-8 and flow cytometry analysis, respectively. FEN1 siRNAs and FEN1 expression plasmid were transfected into cells to down-regulate or up-regulate FEN1 expression. The promotor activity of FEN1 was detected using luciferase reporter assay. RESULTS: FEN1 down-regulation improved cisplatin sensitivity of breast cancer cells overexpressing aromatase. Letrozole down-regulated FEN1 expression and increased cisplatin sensitivity. The sensitizing effect of letrozole to cisplatin was dependent on FEN1 down-regulation. FEN1 overexpression could block the sensitizing effect of letrozole to cisplatin. Testosterone up-regulated the promotor activity, protein expression of FEN1, and phosphorylation of ERK/Elk-1, which could be eliminated by both letrozole and MEK1/2 inhibitor U0126. Letrozole down-regulated FEN1 expression in an ERK/Elk-1-dependent manner. CONCLUSIONS: Our findings clearly demonstrate that letrozole improves cisplatin sensitivity of breast cancer cells overexpressing aromatase via down-regulation of FEN1 and suggest that a combined use of letrozole and cisplatin may be a potential treatment protocol for relieving cisplatin resistance in human breast cancer.


Asunto(s)
Aromatasa/metabolismo , Neoplasias de la Mama/tratamiento farmacológico , Cisplatino/farmacología , Resistencia a Antineoplásicos/efectos de los fármacos , Endonucleasas de ADN Solapado/antagonistas & inhibidores , Regulación Neoplásica de la Expresión Génica/efectos de los fármacos , Letrozol/farmacología , Antineoplásicos/farmacología , Aromatasa/química , Inhibidores de la Aromatasa/farmacología , Neoplasias de la Mama/metabolismo , Neoplasias de la Mama/patología , Proliferación Celular , Regulación hacia Abajo , Femenino , Endonucleasas de ADN Solapado/genética , Endonucleasas de ADN Solapado/metabolismo , Humanos , Transducción de Señal , Células Tumorales Cultivadas
3.
Rev. bras. ciênc. avic ; 20(4): 717-724, Oct.-Dec. 2018. tab
Artículo en Inglés | VETINDEX | ID: biblio-1490566

RESUMEN

The possibility of using mushroom (Flammulina velutipes) stem waste (FVW) in layer diets was explored in this study. A total of 180, 40-week-old ISA Brown laying hens were randomly assigned to 5 groups, with 6 replications of 6 birds for each group. Layers were fed a standard basal diet as control; antibiotic (0.05% flavomycin); 2% FVW; 4% FVW; and 6% FVW. No significant differences (p>0.05) were observed on hen daily egg production, egg weight, egg mass, unmarketable eggs, feed intake, feed conversion ratio, and live weight among experimental groups. Haugh unit was found higher (p0.05) by feeding FVW in this study. Yolk color was found higher (p<0.05) in FVW fed groups than in control and antibiotic groups. The shell color was higher (p<0.05) both in 4% FVW and 6% FVW fed groups than in control and antibiotic groups. Calcium retention and calcium in egg shell deposition were higher (p<0.05) both in 4% FVW and 6% FVW fed groups than in control and antibiotic groups respectively. Apparent nutrient retention for dry matter, crude protein, crude fat, and organic matter were higher (p<0.05) in FVW fed groups than in control and antibiotic groups. FVW at 6% level in layer ration can be used for organic eggs production which would be safe and sound for human consumption.


Asunto(s)
Femenino , Animales , Cáscara de Huevo , Tallos de la Planta/efectos adversos , Calcio , Flammulina , Pollos/fisiología , Yema de Huevo , Huevos/análisis , Digestión , Calidad de los Alimentos
4.
R. bras. Ci. avíc. ; 20(4): 717-724, Oct.-Dec. 2018. tab
Artículo en Inglés | VETINDEX | ID: vti-19681

RESUMEN

The possibility of using mushroom (Flammulina velutipes) stem waste (FVW) in layer diets was explored in this study. A total of 180, 40-week-old ISA Brown laying hens were randomly assigned to 5 groups, with 6 replications of 6 birds for each group. Layers were fed a standard basal diet as control; antibiotic (0.05% flavomycin); 2% FVW; 4% FVW; and 6% FVW. No significant differences (p>0.05) were observed on hen daily egg production, egg weight, egg mass, unmarketable eggs, feed intake, feed conversion ratio, and live weight among experimental groups. Haugh unit was found higher (p<0.05) in FVW fed groups than in antibiotic fed groups. Shape index, shell weight, shell thickness, yolk weight, yolk index, yolk weight and albumen weight were not affected (p>0.05) by feeding FVW in this study. Yolk color was found higher (p<0.05) in FVW fed groups than in control and antibiotic groups. The shell color was higher (p<0.05) both in 4% FVW and 6% FVW fed groups than in control and antibiotic groups. Calcium retention and calcium in egg shell deposition were higher (p<0.05) both in 4% FVW and 6% FVW fed groups than in control and antibiotic groups respectively. Apparent nutrient retention for dry matter, crude protein, crude fat, and organic matter were higher (p<0.05) in FVW fed groups than in control and antibiotic groups. FVW at 6% level in layer ration can be used for organic eggs production which would be safe and sound for human consumption.(AU)


Asunto(s)
Animales , Femenino , Flammulina , Tallos de la Planta/efectos adversos , Pollos/fisiología , Huevos/análisis , Yema de Huevo , Cáscara de Huevo , Calcio , Calidad de los Alimentos , Digestión
5.
Genet Mol Res ; 16(2)2017 May 18.
Artículo en Inglés | MEDLINE | ID: mdl-28525649

RESUMEN

Context weighting is an important technology for genome compression. In this study, we discuss the relationship between the weighting of context models and the weighting of the description lengths corresponding to their respective context models. It indicates that weighting of context models is equivalent to the weighting of their description lengths. With these discussions, we present the weights optimization algorithm based on the minimum description length, and suggest implementing the least-square algorithm for the optimization of the weights. The proposed optimization algorithm is used in the compression of bacterial genome sequences. The experiment results indicate that by using the proposed weights optimization method, our context weighting-based genome compression algorithm can achieve better performance than context weighting-based algorithms reported in the literature.


Asunto(s)
Algoritmos , Compresión de Datos/métodos , Genoma Bacteriano , Análisis de Secuencia de ADN/métodos , Análisis de los Mínimos Cuadrados
6.
Clin Transl Oncol ; 19(7): 844-852, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28070766

RESUMEN

PROPOSAL: To compare the effectiveness of TACE + RFA with hepatectomy in patients with HCC within Milan criteria. METHODS: It is a retrospective matched case-control study from January 2006 to December 2010 in a tertiary cancer center. 74 patients with HCC within Milan criteria initially treated with TACE + RFA were identified and compared with 148 matched controls selected from a pool of 782 patients who received hepatectomy. Patients were matched with respect to age, gender, tumor size and number, AFP and liver function test. RESULTS: The 1, 3, and 5 years overall survival (OS) was 94.6, 75.1 and 55.3%, respectively, in the combination group, and 91.2, 64.4, and 47.7%, respectively, in the hepatectomy group (P = 0.488). The 1, 3, and 5 years disease-free survival (DFS) in the combination group was 87.8, 48.3, and 33.5%, respectively, and 68.9, 49.2, and 40.9%, respectively, in the hepatectomy group (P = 0.619). In subgroups analyses according to the tumor size and number, no significant difference was identified in either OS or DFS for patients with single tumor smaller than 3.0 cm, 3.0-5.0 cm, and multiple tumors. Multivariate analysis showed that tumor size, ALT, and CLIP score were significant prognostic factors for OS, and ALT and Child-Pugh class were significant prognostic factors for DFS. CONCLUSION: TACE + RFA is safe and as effective as hepatectomy for patients with HCC within Milan criteria.


Asunto(s)
Carcinoma Hepatocelular/terapia , Ablación por Catéter/mortalidad , Quimioembolización Terapéutica/mortalidad , Hepatectomía/mortalidad , Neoplasias Hepáticas/terapia , Carcinoma Hepatocelular/patología , Estudios de Casos y Controles , Terapia Combinada , Femenino , Estudios de Seguimiento , Humanos , Neoplasias Hepáticas/patología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Tasa de Supervivencia , Resultado del Tratamiento
7.
Clin Transl Oncol ; 19(5): 641-649, 2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-27878756

RESUMEN

OBJECTIVE: To explore the imaging features of adrenal primitive neuroectodermal tumors (PNETs). MATERIALS AND METHODS: This retrospective study included seven patients with surgically and pathologically confirmed adrenal PNETs. Among them, six underwent computed tomography (CT) scans, and one underwent magnetic resonance imaging. The imaging findings, including size, shape, margin, hemorrhage, calcification, cystic degeneration, regional lymph nodes involvement, tumor thrombus formation and enhancement pattern, were retrospectively analyzed. RESULTS: Among the seven adrenal PNET patients, six were male, and one was female. The median age was 26 years (range 2-56 years). The disease generally presented with either insidious symptoms (n = 4) or non-specific symptoms, including right flank pain (n = 1) and left upper abdominal discomfort (n = 2). On the pre-enhanced CT images, the tumor usually appeared as a well-defined, rounded or oval, heterogeneous mass without calcification. Certain tissue characteristics, such as cystic degeneration (n = 5), capsule (n = 4) and hemorrhage (n = 2), were observed. Regional lymph node involvement was observed in three cases, and renal vein thrombus was observed in one case. All cases showed mild heterogeneous enhancement of the tumor on the enhanced CT images. CONCLUSION: An adrenal PNET commonly presents as a relatively large, well-defined, heterogeneous mass with cystic degeneration, necrosis and a characteristic mild contrast-enhancement pattern on multiphase enhanced images. PNET should be considered when the diagnosis of common tumors is not favored by signs on images. CLINICAL TRIAL REGISTRATION STATEMENT: This study was approved by the medical ethics committee of Xiangya Hospital, Central South University. The approval number is 201512538.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales/diagnóstico por imagen , Neoplasias de las Glándulas Suprarrenales/patología , Tumores Neuroectodérmicos Periféricos Primitivos/diagnóstico por imagen , Tumores Neuroectodérmicos Periféricos Primitivos/patología , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Adulto Joven
8.
Genet Mol Res ; 15(3)2016 Sep 16.
Artículo en Inglés | MEDLINE | ID: mdl-27706721

RESUMEN

The aim of this study was to conduct a systematic evaluation the correlation between polymorphisms in the estrogen receptor α gene (ESRα) and coronary heart disease susceptibility. Case-control studies until August 2015 analyzing the correlation between the ESRα PvuII T/C polymorphism and coronary heart disease were obtained from various electronic databases (CBM, CNKI, Wanfang Data, VIP, and MEDLINE, Cochrane Library, Embase, Springer, and Ovid. The data obtained from these studies were evaluated and valid data was extracted. A meta-analysis was performed using RevMan 5.0. Eleven cases, comprising 1742 patients with coronary heart disease and 2012 controls, that conformed to the inclusion criteria set in this study were extracted. The results of our meta-analysis indicated that the C and T alleles, the TC+CC and TT genotypes, and the CC and TT+TC genotypes did not differ significantly. The results of this meta-analysis confirmed that there was no correlation between polymorphisms in ESRα and coronary heart disease susceptibility in the Chinese population.


Asunto(s)
Enfermedad Coronaria/genética , Receptor alfa de Estrógeno/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Alelos , China , Enfermedad Coronaria/epidemiología , Enfermedad Coronaria/patología , Femenino , Genotipo , Humanos , Masculino , Factores de Riesgo
9.
Zhonghua Er Ke Za Zhi ; 54(5): 375-8, 2016 May.
Artículo en Chino | MEDLINE | ID: mdl-27143081

RESUMEN

OBJECTIVE: To analyze the clinical characteristics, outcome and diagnosis of two cases of imported children Zika virus infection in China. METHOD: A retrospective analysis was performed on clinical characteristics, treatment and outcome of two cases of imported children with Zika virus infection in February 2016 in Enping People's Hospital of Guangdong. RESULT: Two cases of children with imported Zika virus infection resided in an affected area of Venezuela, 8-year-old girl and her 6 year-old brother. The main findings on physical examination included the following manifestations: fever, rash, and conjunctivitis. The rash was first limited to the abdomen, but extended to the torso, neck and face, and faded after 3-4 d. The total number of white blood cells was not high and liver function was normal. The diagnosis of two cases of Zika virus infection was confirmed by the expert group of Guangdong Provincial Center for Disease Control and Prevention, according to the epidemiological history, clinical manifestations and Zika virus nucleic acid detection results.Treatment of Zika virus infection involves supportive care. Two Zika virus infection children had a relatively benign outcome. CONCLUSION: At present, Zika virus infection in children is an imported disease in China. No specific therapy is available for this disease. Information on long-term outcomes among infants and children with Zika virus disease is limited, routine pediatric care is advised for these infants and children.


Asunto(s)
Infección por el Virus Zika/diagnóstico , Virus Zika/aislamiento & purificación , Niño , China , Exantema , Femenino , Fiebre , Humanos , Masculino , Estudios Retrospectivos , Venezuela
10.
Genet Mol Res ; 15(2)2016 Apr 07.
Artículo en Inglés | MEDLINE | ID: mdl-27173212

RESUMEN

We sought to determine the efficacy of atomized paclitaxel liposome inhalation treatment of pulmonary fibrosis in a bleomycin-induced rat model. Forty male Sprague-Dawley rats were randomly divided into four groups: healthy control, pulmonary fibrosis without treatment, paclitaxel liposome inhalation-treated, and intravenous paclitaxel liposome-treated. Fibrosis was induced by bleomycin injection. A total of 20 mg/kg paclitaxel liposome was administered by inhalation every other day for a total of 10 doses. The intravenous group received 5 mg/kg paclitaxel liposome on days 1, 7, 14, and 21. We observed the general condition, weight change, survival index, and pathological changes in the lung tissue of the rats. Quantitative analysis of collagen types I and III and transforming growth factor (TGF)-ß1 expression in the lungs was also performed. The paclitaxel liposome inhalation and intravenous delivery methods improved survival index and pulmonary fibrosis Ashcroft score, and decreased the thickness of the alveolar interval. No obvious difference was found between the two groups. Compared with the untreated group, paclitaxel liposome inhalation and intravenous injection significantly reduced the levels of collagen types I and III and TGF-ß1 expression equally. In conclusion, atomized paclitaxel liposome inhalation protects against severe pulmonary fibrosis in a bleomycin-induced rat model. This delivery method has less systemic side effects and increased safety over intravenous injection.


Asunto(s)
Liposomas , Paclitaxel/uso terapéutico , Fibrosis Pulmonar/tratamiento farmacológico , Administración por Inhalación , Animales , Bleomicina/toxicidad , Colágeno Tipo I/genética , Colágeno Tipo I/metabolismo , Colágeno Tipo III/genética , Colágeno Tipo III/metabolismo , Inyecciones Intravenosas , Masculino , Paclitaxel/administración & dosificación , Fibrosis Pulmonar/etiología , Ratas , Ratas Sprague-Dawley , Factor de Crecimiento Transformador beta1/genética , Factor de Crecimiento Transformador beta1/metabolismo
11.
Genet Mol Res ; 15(2)2016 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-27173228

RESUMEN

Epigenetic inactivation of Ras-associated domain family 1A (RASSF1A) by hyper-methylation of its promoter region has been identified in various cancers. However, the role of RASSF1A in renal cancer has neither been thoroughly investigated nor reviewed. In this study, we reviewed and performed a meta-analysis of 13 published studies reporting correlations between methylation frequency of the RASSF1A promoter region and renal cancer risk. The odds ratios (ORs) of eligible studies and their corresponding 95% confidence intervals (95%CIs) were used to correlate RASSF1A promoter methylation with renal cell cancer risk and clinical or pathological variables, respectively. RASSF1A promoter methylation was significantly associated with the risk of renal cell cancer (OR = 19.35, 95%CI = 9.57-39.13). RASSF1A promoter methylation was significantly associated with pathological tumor grade (OR = 3.32, 95%CI = 1.55-7.12), and a possible positive correlation between RASSF1A promoter methylation status and tumor stage was noted (OR = 1.89, 95%CI = 1.00-3.56, P = 0.051). Overall, this meta-analysis demonstrated that RASSF1A promoter methylation is significantly associated with increased risk of renal cell cancer. RASSF1A promoter methylation frequency was positively correlated with pathological tumor grade, but not the clinical stage. This study showed that RASSF1A promoter methylation could be utilized to predict renal cell cancer prognosis.


Asunto(s)
Carcinoma de Células Renales/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Proteínas Supresoras de Tumor/genética , Carcinoma de Células Renales/patología , Metilación de ADN/genética , Humanos , Regiones Promotoras Genéticas
12.
Clin Transl Oncol ; 18(3): 269-76, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26243397

RESUMEN

PURPOSE: Wnt/ß-catenin has emerged as an important signal pathway in renal cell carcinoma (RCC) pathogenesis. Frizzled 7 (Fzd7) is a member of Frizzled (Fzd) receptor family which binds with Wnt ligands and transduces canonical and non-canonical pathways. However, the expression of Fzd7 in human RCC is poorly investigated. METHODS: 53 RCC tissues and peri-tumor tissues were collected from the patients treated with radical nephrectomy. The expression of Fzd7 was investigated by immunohistochemical staining. Three RCC cells were transfected with Fzd7shRNA and GFPshRNA to investigate the function of Fzd7 in RCC cells. RESULTS: The immunohistochemical analysis showed that Fzd7 protein expression level was significantly increased in RCC tissues when compared with peri-tumor tissues, which suggested that Fzd7 might be involved in the formation of tumors. However, the Fzd7 expression was not correlated with clinicopathological parameters. Three RCC cell lines: 786-O, Caki-1, and OS-RC-2 also expressed Fzd7. With Fzd7 expression being interfered by shRNA, the RCC cell proliferation was mildly decreased. Wnt3a could stimulate the RCC cells proliferation, but the stimulation was decreased when Fzd7 expression was interfered. Restoring the Fzd7 expression led to the proliferation stimulation effect of Wnt3a being restored. CONCLUSIONS: This paper suggests that Fzd7 may act as one of the molecules that take part in the course of RCC formation. Fzd7 can be activated by Wnt3a to stimulate cell proliferation.


Asunto(s)
Carcinoma de Células Renales/metabolismo , Receptores Frizzled/biosíntesis , Neoplasias Renales/metabolismo , Adulto , Anciano , Carcinoma de Células Renales/patología , Proliferación Celular/fisiología , Femenino , Citometría de Flujo , Receptores Frizzled/análisis , Humanos , Inmunohistoquímica , Neoplasias Renales/patología , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , ARN Interferente Pequeño , Transfección
13.
Clin Transl Oncol ; 18(3): 304-9, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26220096

RESUMEN

PURPOSE: To investigate the association of hemodialysis duration with the recurrence of urothelial carcinoma (UC) of the bladder and overall survival in patients undergoing maintenance hemodialysis (MHD). PATIENTS AND METHODS: 52 bladder cancer patients who underwent MHD at the Xiangya Hospital of The Central South University between 2001 and 2011 were enrolled in the study. The patients were divided into three groups according to hemodialysis duration, and patient mortality and tumor recurrence rates were analyzed. The association of hemodialysis duration with occurrence and recurrence of UC of the bladder was analyzed by Cox regression analysis. Survival was evaluated by the Kaplan-Meier method. RESULTS: Out of 6266 chronic hemodialysis patients, 52 patients had UC of the bladder after the initiation of hemodialysis for 6 months. The mean age at hemodialysis onset was 55 years (IQR 36, 71). The major complaints were painless gross hematuria and urethral bloody discharge. Tumors were generally large and multifocal. The standardized incidence ratio of UC of the bladder was 43.9 compared with general population, and it was higher in women (76.7) and in the age group 61-65 years (186.6). The mean hemodialysis duration before the diagnosis of bladder cancer was 32 months. 30 (57.7 %) patients received hemodialysis no more than 3 years, 10 (19.2 %) patients received hemodialysis between 3 and 6 years, and 12 (23.1 %) patients received hemodialysis for more than 6 years. CONCLUSION: Preoperative shorter hemodialysis duration is a risk factor for the occurrence and recurrence of UC of the bladder in patients undergoing MHD.


Asunto(s)
Carcinoma de Células Transicionales/patología , Recurrencia Local de Neoplasia/epidemiología , Diálisis Renal , Neoplasias de la Vejiga Urinaria/patología , Adulto , Anciano , Femenino , Humanos , Incidencia , Estimación de Kaplan-Meier , Fallo Renal Crónico/terapia , Masculino , Persona de Mediana Edad , Modelos de Riesgos Proporcionales , Factores de Riesgo , Factores de Tiempo
14.
West Indian Med J ; 65(1): 219-221, 2015 May 11.
Artículo en Inglés | MEDLINE | ID: mdl-26716809

RESUMEN

This study is a family survey based on a typical patient with seborrhoeic keratosis (SK). Family members comprised 47 people of four generations, including 22 affected members (12 males and 10 females). The 17 people of the fourth generation were aged less than 26 years old. The proband in this study had typical clinical manifestations and pathology of SK, and all affected members of the family had characteristic skin rash that was easy to be identified. The pattern is consistent with autosomal dominant inheritance and SK is indicated to have a certain age onset.

15.
Genet Mol Res ; 14(4): 13328-36, 2015 Oct 27.
Artículo en Inglés | MEDLINE | ID: mdl-26535646

RESUMEN

Aniridia is an autosomal dominant disorder characterized by the complete or partial loss of the iris and is almost associated with mutations in the paired box gene 6 (PAX6). We examined three generations of a Chinese family with congenital aniridia and observed genetic defects. Exons of PAX6 from 12 family members were amplified by polymerase chain reaction, sequenced, and compared with reference sequences in NCBI reference sequence database (http://www.ncbi.nlm.nih.gov/nuccore/NG_008679.1?from=5001&to=38170&report=genbank). A rare mutation c.2T>A (M1K) in exon 4 of PAX6 was identified in all affected family members but not in unaffected family members. Our results suggest that the c.2T>A (M1K) mutation may be responsible for the pathogenesis of congenital aniridia in this family. To our knowledge, this is the first report of the M1K mutation in PAX6 in a Chinese family with this disease and the second report worldwide.


Asunto(s)
Aniridia/diagnóstico , Aniridia/genética , Proteínas del Ojo/genética , Proteínas de Homeodominio/genética , Mutación , Factores de Transcripción Paired Box/genética , Proteínas Represoras/genética , Adolescente , Adulto , Secuencia de Aminoácidos , Pueblo Asiatico/genética , China , Topografía de la Córnea , Análisis Mutacional de ADN , Exones , Proteínas del Ojo/química , Familia , Femenino , Proteínas de Homeodominio/química , Humanos , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Factor de Transcripción PAX6 , Factores de Transcripción Paired Box/química , Linaje , Proteínas Represoras/química , Alineación de Secuencia , Adulto Joven
17.
Genet Mol Res ; 14(2): 3640-9, 2015 Apr 17.
Artículo en Inglés | MEDLINE | ID: mdl-25966133

RESUMEN

Cancer is a major public health problem worldwide that involves complex processes and factors. For instance, methylation is important in tumorigenesis. DNA (cytosine-5)-methyltransferase 3A (DNMT3A) is the main de novo methyltransferase implicated in this process. In DNMT3A, the -448A>G polymorphism is associated with cancer; however, the results of various studies have been conflicting. To clarify the role of DNMT3A polymorphisms in cancer, we conducted a meta-analysis of 2014 cases and 3089 control subjects. Odds ratios with 95% confidence intervals were estimated to evaluate the association between the DNMT3A -448A>G polymorphism and cancer risk. The results showed that DNMT3A may be a protective factor against all cancer types and colorectal cancer groups. Further studies should be conducted including different ethnicities and large population sizes to generate a comprehensive conclusion.


Asunto(s)
ADN (Citosina-5-)-Metiltransferasas/genética , Predisposición Genética a la Enfermedad/genética , Neoplasias/genética , Polimorfismo de Nucleótido Simple , Neoplasias Colorrectales/genética , ADN Metiltransferasa 3A , Frecuencia de los Genes , Genotipo , Humanos , Desequilibrio de Ligamiento , Neoplasias/clasificación , Oportunidad Relativa , Factores de Riesgo
18.
Clin Transl Oncol ; 17(7): 564-9, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-25744645

RESUMEN

PURPOSE: Genetic factors play an important role in our predisposition to cancer. Genome-wide association studies have linked the chromosome 15q25.1 locus to lung cancer susceptibility and implicated proteasome subunit alpha type-4 (PSMA4) as a candidate gene. In this case-control study, pathologically confirmed lung cancer patients and controls from the Chinese Han population were investigated to determine the effect of variant genotypes within the PSMA4 locus on susceptibility to lung cancer and sensitivity to cisplatin-based chemotherapy. METHODS: We identified validated tagged single nucleotide polymorphisms (tSNPs) with minor allele frequency >5 % in the HapMap Chinese Han Beijing population and genotyped seven SNPs within the PSMA4 locus. Their correlation with lung cancer risks and treatment response were examined using χ (2) test and haplotype analysis. Multivariate logistic regression analysis tested the association between the polymorphisms and chemotherapy response. RESULTS: rs12901682 is associated with lung cancer risks (OR = 1.45, 95 % CI, 1.04-2.02; P = 0.029). Using SNPStats software, we found rs12901682 (OR = 6.30, 95 % CI, 1.31-30.26; P = 0.0073) associated with lung cancer risks in the recessive model. Haplotype analysis showed that "CAGAATC" conferred an increased risk of lung cancer (OR = 1.50, 95 % CI, 1.07-2.11; P = 0.019). After adjustment for age, this association was pronounced in the male gender (OR = 6.30, 95 % CI, 1.31-30.26; P = 0.0073). PSMA4 polymorphisms did not affect the tumor sensitivity to cisplatin combination chemotherapy. CONCLUSIONS: Our study suggests a potential association between PSMA4 variants and lung cancer risk in Chinese Han population.


Asunto(s)
Adenocarcinoma/genética , Pueblo Asiatico/genética , Carcinoma de Células Grandes/genética , Carcinoma de Células Escamosas/genética , Neoplasias Pulmonares/genética , Complejo de la Endopetidasa Proteasomal/genética , Carcinoma Pulmonar de Células Pequeñas/genética , Adenocarcinoma/tratamiento farmacológico , Adulto , Anciano , Antineoplásicos/uso terapéutico , Carcinoma de Células Grandes/tratamiento farmacológico , Carcinoma de Células Escamosas/tratamiento farmacológico , Estudios de Casos y Controles , Cisplatino/uso terapéutico , Femenino , Predisposición Genética a la Enfermedad , Humanos , Neoplasias Pulmonares/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Polimorfismo de Nucleótido Simple , Carcinoma Pulmonar de Células Pequeñas/tratamiento farmacológico , Resultado del Tratamiento
19.
Genet Mol Res ; 14(4): 17341-7, 2015 Dec 21.
Artículo en Inglés | MEDLINE | ID: mdl-26782374

RESUMEN

In the present study, we examined whether hypoxia-inducible factor-1α (HIF-1α) polymorphisms are associated with the susceptibility to chronic obstructive pulmonary disease (COPD). One hundred and twenty patients with COPD and 112 healthy controls were recruited from the Han population in Southern China. Polymerase chain reaction-restriction fragment length polymorphism was used to assess the C1772T and G1790A polymorphisms in the HIF-1α gene, and differences in genotypes between the 2 groups were compared. No significant difference in the distribution of the C1772T polymorphism was observed between COPD cases and healthy controls (P > 0.05). In contrast, the distribution of the G1790A polymorphism was significantly different between the 2 groups (P < 0.05). Our results indicated that the HIF-1α G1790A polymorphism was associated with an increased susceptibility to COPD in Han subjects from Southern China.


Asunto(s)
Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Subunidad alfa del Factor 1 Inducible por Hipoxia/genética , Enfermedad Pulmonar Obstructiva Crónica/genética , Anciano , China , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Pronóstico , Enfermedad Pulmonar Obstructiva Crónica/patología
20.
Genet Mol Res ; 14(4): 18872-85, 2015 Dec 29.
Artículo en Inglés | MEDLINE | ID: mdl-26782538

RESUMEN

Chalcone isomerase (CHI) is a key enzyme involved in anthocyanin metabolism. Previous research on CHI has mainly focused on cDNA cloning and gene expression. In the current study, the 1425-bp potato CHI promoter (PCP) was isolated from four potato cultivars (Heijingang, Zhongshu 7, Désirée, and Favorita) using PCR and DNA sequencing. The PCP contained many cis-regulatory elements (CREs) related to anthocyanin metabolism, tissue specificity, light response, stress, and hormone induction. Of the PCP CREs identified, 19 were common to those found in the higher plants examined, based on plant CRE databases. Multiple sequence alignment showed six single nucleotide variation sites in PCP among the potato cultivars examined, resulting in changes in the number of CREs connected with tissue specificity, anthocyanin metabolism, and light response. The 665-bp PCP fragments from Favorita and 1425-bp PCP fragments from Heijingang were used to construct plant expression vectors, which may be a useful tool for biological engineering. A transient expression assay demonstrated that the two PCP fragments from Heijingang could direct the expression of a green fluorescent protein gene in onion epidermis and a ß-glucuronidase gene in all potato tuber tissues with different colors, suggesting that the single nucleotide variation in the PCP did not affect its activity, and that silencing of the CHI gene in Favorita may be attributed to other regulatory factors.


Asunto(s)
Regulación de la Expresión Génica de las Plantas , Liasas Intramoleculares/genética , Proteínas de Plantas/genética , Regiones Promotoras Genéticas , Solanum tuberosum/genética , Antocianinas/biosíntesis , Secuencia de Bases , Genes Reporteros , Glucuronidasa/genética , Glucuronidasa/metabolismo , Proteínas Fluorescentes Verdes/genética , Proteínas Fluorescentes Verdes/metabolismo , Liasas Intramoleculares/metabolismo , Datos de Secuencia Molecular , Proteínas de Plantas/metabolismo , Plantas Modificadas Genéticamente , Alineación de Secuencia , Análisis de Secuencia de ADN , Solanum tuberosum/metabolismo
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