RESUMEN
STUDY OBJECTIVE: Postlaparoscopic shoulder pain (PLSP) is effectively reduced by a pulmonary recruitment maneuver (PRM). The goal of this study is to assess the efficacy of a PRM using maximal inspiratory pressure of 30 cm H2O, which is lower than previously studied pressure for reducing PLSP. DESIGN: Randomized controlled trial. SETTING: University hospital. PATIENTS: Eighty-four patients who were undergoing elective gynecologic laparoscopy. INTERVENTIONS: Patients were randomly assigned to the control (nâ¯=â¯42) or the PRM (nâ¯=â¯42) group. MEASUREMENTS AND MAIN RESULTS: The primary outcome was the intensity of the shoulder pain using the visual analog scale (VAS). The VAS score of shoulder pain (median [interquartile range]) was significantly lower in the PRM group than in the control group at 24 hours (0 [0-0] vs 1.5 [0-4.0], p <.001) and 48 hours (0 [0-0] vs 1.0 [0-2.0], p <.001) after surgery. Other variables, including surgical pain score and vital signs, were similar between the 2 groups. CONCLUSION: The PRM with 30 cm H2O can be a simple method to reduce PLSP. Therefore, it would be helpful to perform the PRM with 30 cm H2O routinely.
Asunto(s)
Procedimientos Quirúrgicos Ginecológicos/efectos adversos , Procedimientos Quirúrgicos Ginecológicos/métodos , Inclinación de Cabeza/fisiología , Pulmón/fisiología , Dolor Postoperatorio/terapia , Neumoperitoneo Artificial/métodos , Dolor de Hombro/terapia , Adulto , Anciano , Dióxido de Carbono/farmacocinética , Procedimientos Quirúrgicos Electivos/efectos adversos , Procedimientos Quirúrgicos Electivos/métodos , Femenino , Humanos , Laparoscopía/métodos , Pulmón/patología , Persona de Mediana Edad , Dimensión del Dolor , Dolor Postoperatorio/etiología , Presión , Dolor de Hombro/etiología , Adulto JovenRESUMEN
OBJECTIVE: The aim of our study was to investigate whether breast cancer-related microRNA polymorphisms are associated with primary ovarian insufficiency (POI) risk. METHODS: Four breast cancer-related microRNA polymorphisms (miR-27aA > G [rs895819], miR-135bC > T [rs74141216], miR-423C > A [rs6505162], and miR-608G > C [rs4919510]) were genotyped in 136 women with idiopathic POI and 224 controls of Korean ethnicity using polymerase chain reaction-restriction fragment length polymorphism analysis. Differences in genotype frequencies between cases and controls were compared. Odds ratios and 95% CIs were determined as measures of the strength of association between genotype and POI. RESULTS: Two haplotypes (G-C-A-G and A-T-C-C) of miR-27a/miR-135b/miR-423/miR-608 were associated with increased POI risk. The haplotypes G-A-G of miR-27a/miR-423/miR-608 and A-T-C of miR-27a/miR-135b/miR-608 were associated with higher POI risk, whereas the G-T haplotype of miR-27a/miR-135b was associated with decreased POI risk. The association between POI risk and the G-A-G haplotype of miR-27a/miR-423/miR-608 remained significant after false discovery rate correction for multiple comparisons. The combined genotypes AA/CT/CC/CC, AG/CC/CA/GC, GG/CC/CC/CC, and GG/CC/CA/GG of miR-27a/miR-135b/miR-423/miR-608 were also associated with higher POI risk. Increased POI risk was observed in combined genotypes GG/CC/GG of miR-27a/miR-135b/miR-608; AA/CC/GC, AG/CA/GC, GG/CC/GG, GG/CC/CC, and GG/CA/GG of miR-27a/miR-423/miR-608; and GG/GG of miR-27a/miR-608; however, these associations were not significant after false discovery rate correction. None of the four microRNA polymorphisms alone was associated with POI risk. CONCLUSIONS: Our data suggest that breast cancer-related microRNA polymorphisms, including miR-27aA > G, miR-423C > A, and miR-608G > C, are associated with increased POI risk via interactions between miR-27aG, miR-423A, and miR-608G variants. However, our results should be interpreted cautiously because of our small sample size and the low statistical power of our study design.
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Neoplasias de la Mama/genética , MicroARNs/genética , Polimorfismo de Nucleótido Simple/genética , Insuficiencia Ovárica Primaria/genética , Adulto , Estrógenos/sangre , Femenino , Hormona Folículo Estimulante/sangre , Técnicas de Genotipaje/métodos , Humanos , Hormona Luteinizante/sangre , Reacción en Cadena de la Polimerasa , Insuficiencia Ovárica Primaria/sangre , República de Corea/epidemiología , Factores de Riesgo , Adulto JovenRESUMEN
OBJECTIVE: Key molecules involved in microRNA (miRNA) biogenesis, such as DROSHA, XPO5, and DICER, have been identified in trophoblast cells, confirming that the miRNA biogenesis pathway is active in human placenta. In addition, miRNAs regulate uterine gene expression associated with inflammatory responses during the peri-implantation period and participate in maternal-fetal immune tolerance. The purpose of this study was to demonstrate whether genetic polymorphisms in miRNA machinery genes show an association with idiopathic recurrent pregnancy loss (RPL) in Korean women. STUDY DESIGN: We performed a case-control study with 238 controls and 338 women who had experienced at least two consecutive pregnancy losses between 1999 and 2010. Genotypes of miRNA machinery genes, including DICER rs3742330, DROSHA rs10719, RAN GTPase (RAN) rs14035, and exportin-5 (XPO5) rs11077 were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The logistic odds ratios (ORs) of RPL were estimated with a 95% confidence interval (CI) in multivariate analysis after maternal age adjustment. Gene-gene interactions among the loci of the four gene polymorphisms were evaluated using the multifactor dimensionality reduction (MDR) method. RESULTS: The RAN rs14035 CC genotype and DICER rs3742330/DROSHA rs10719 GG/TC+CC, rs3742330/RAN rs14035 GG/CC, and DICER rs3742330/XPO5 rs11077 GG/AC+CC combinations were significantly associated with increased RPL risk, whereas the RAN rs14035 CT, DICER rs3742330/RAN rs14035 AA+AG/CT+TT, DROSHA rs10719/RAN rs14035 TC+CC/CT+TT, and RAN rs14035/XPO5 rs11077 CT+TT/AA combinations reduced RPL risk. The A-T-T-C and G-C-T-A allele combinations (DICER/DROSHA/RAN/XPO5) were 20 times more frequent in the RPL group than in the control group. CONCLUSION: Our study demonstrates the relationship between RPL development and the polymorphism of the miRNA machinery gene RAN and combined genotype of DROSHA/DICER.
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Aborto Habitual/genética , ARN Helicasas DEAD-box/genética , Carioferinas/genética , Ribonucleasa III/genética , Proteína de Unión al GTP ran/genética , Adulto , Estudios de Casos y Controles , Epistasis Genética , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Polimorfismo de Nucleótido Simple , Embarazo , Riesgo , Análisis de Secuencia de ADN , Adulto JovenRESUMEN
OBJECTIVE: To investigate the association between potentially functional plasminogen activator inhibitor-1 (PAI-1) genetic polymorphisms and primary ovarian insufficiency (POI). DESIGN: Case-control study. SETTING: Urban university-based hospital. PATIENT(S): A cohort of 137 POI patients and 227 controls. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genotyping of five PAI-1 polymorphisms (-844G>A [rs2227631], -675 4G/5G [rs1799889], 43G>A (Ala>Thr) [rs6092], 9785G>A [rs2227694], and 11053T>G [rs7242]) was assessed by polymerase chain reaction-restriction fragment length polymorphism assay. RESULT(S): PAI-1 polymorphisms 9785GA+AA, -844A/9785A, 4G/9785A, and 9785A/11053G were associated with POI occurrence. Moreover, -844GA+AA and 11053TG+GG were associated with lower serum E2 levels in controls. CONCLUSION(S): We have identified an association between five PAI-1 polymorphisms and POI occurrence. However, the mechanism underlying the function of these polymorphisms in POI remains to be determined. Further studies are needed to improve understanding of the roles of PAI-1 polymorphisms and genes in related pathways, using a larger and more heterogeneous cohort.
Asunto(s)
Estudios de Asociación Genética/métodos , Inhibidor 1 de Activador Plasminogénico/genética , Polimorfismo Genético/genética , Insuficiencia Ovárica Primaria/diagnóstico , Insuficiencia Ovárica Primaria/genética , Adulto , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes/genética , HumanosRESUMEN
OBJECTIVE: The aim of this study was to investigate whether two polymorphisms in the promoter region of inhibin alpha (INHA) are associated with risk of idiopathic primary ovarian insufficiency (POI) in Korean women, which is a controversial topic. STUDY DESIGN: We genotyped the INHA polymorphisms c.-16C>T (rs35118453) and c.-124A>G (rs11893842) of 136 POI patients and 225 controls in Korean women by polymerase chain reaction and restriction fragment length polymorphism analysis. We then compared differences in genotype and allele frequencies (AF) of the polymorphisms between the two groups to determine odds ratios (OR) and 95% confidence intervals (CI) as measures of the strength of association between genotype and POI. RESULTS: There were no significant differences in genotype or AF of the polymorphisms between the POI patients and controls. Haplotype analysis revealed that the T-G haplotype of the two variant alleles was more frequent in POI patients than in the controls (OR=1.630, 95% CI=1.081-2.457). Combination genotype analysis showed that the CT+TT/GG genotype frequency was higher in POI patients than in the controls (OR=2.414, 95% CI=1.190-4.895). CONCLUSIONS: We provide evidence to suggest that when the two variant alleles are combined, the c.-16C>T and c.-124A>G polymorphisms are associated with increased POI risk in Korean women. We postulate that interactions between the INHA polymorphisms may affect POI risk.
Asunto(s)
Inhibinas/genética , Insuficiencia Ovárica Primaria/genética , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Polimorfismo Genético , Insuficiencia Ovárica Primaria/epidemiología , Regiones Promotoras Genéticas , República de Corea/epidemiología , Adulto JovenRESUMEN
Plasminogen activator inhibitor-1 (PAI-1) is important for maintaining pregnancy. Aberrantly increased PAI-1 levels may contribute to thrombosis and inflammation, leading to pregnancy loss. This study investigated the association of PAI-1 polymorphisms (PAI-1 rs2227631 [-844G>A], rs1799889 [-675 4G/5G], rs6092 [43G>A], rs2227694 [9785G>A], and rs7242 [11053T>G]) with idiopathic recurrent pregnancy loss (RPL) in Korean women. We screened 308 RPL patients and 227 control participants for five PAI-1 polymorphisms. Genotyping of PAI-1 was performed by polymerase chain reaction-restriction fragment length polymorphism assay. PAI-1 4G4G and -844AA/4G4G/11053GG genotypes were associated with RPL. PAI-1 -844A/4G/43G/9785G/11053G haplotype was connected to hypofibrinolytic status (i.e. increased levels of plasma PAI-1, increased numbers of platelets, reduced prothrombin time, and reduced activated partial thromboplastin time). Moreover, PAI-1 11053TG+GG frequency was positively related to plasma homocysteine and urate levels, whereas -844AA frequency was associated with plasma folate concentrations according to ordinal logistic regression analysis. Based on these results, we propose that PAI-1 -844G>A, 4G/5G, and 11053T>G polymorphisms are markers of RPL.
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Aborto Habitual/genética , Inhibidor 1 de Activador Plasminogénico/metabolismo , Aborto Habitual/sangre , Adulto , Coagulación Sanguínea/genética , Análisis Mutacional de ADN , Femenino , Ácido Fólico/sangre , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Homocisteína/sangre , Humanos , Corea (Geográfico) , Persona de Mediana Edad , Mutación/genética , Inhibidor 1 de Activador Plasminogénico/genética , Polimorfismo Genético , Embarazo , Adulto JovenRESUMEN
OBJECTIVE: To study the correlation between the predicted thermal dose volume (TDV) and the actual ablation volumes in MR-guided focused ultrasound surgery (MRgFUS) for symptomatic uterine fibroids, and to follow up the outcome for 12 months post-treatment. STUDY DESIGN: Phase-difference fast spoiled gradient-echo MR images were used to analyze thermal change during the energy deliveries of MRgFUS in 60 consecutive patients treated for symptomatic uterine fibroids. The TDV obtained through analysis of these MR images was compared with the non-perfused volume (NPV) measured on post-treatment contrast enhanced T1-weighted images. Final values of TDV ratio and NPV ratio were obtained by dividing these values by original fibroid volume. Patients were followed for 12 months post-treatment to assess symptomatic relief using the symptom severity score (SSS). RESULTS: Treatments in which we managed to reach a TDV ratio larger than 27% of the treated fibroid yielded a ratio of NPV to TDV of 1.1±0.5, indicating accurate control of the non-invasive procedure. Patient symptoms, as measured by the SSS, continuously decreased from a mean baseline score of 50±22 to 19±12 (P<0.0001) 12 months post-treatment. CONCLUSIONS: At large treatment volumes (exceeding 27% TDV ratio), thermal dose estimates correspond very closely to non-perfused volumes measured immediately post treatment. These large treatment volumes result in continuous clinical improvement throughout the first 12 months after MRgFUS.
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Ultrasonido Enfocado de Alta Intensidad de Ablación , Leiomioma/cirugía , Imagen por Resonancia Magnética Intervencional , Dosis de Radiación , Neoplasias Uterinas/cirugía , Adulto , Femenino , Humanos , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
We investigated whether microRNA (miRNA) polymorphisms (miR-146aC>G, miR-196a2T>C, and miR-499A>G) confer risk of premature ovarian failure (POF) in Korean women. DNA samples from 136 patients with POF and 234 controls were genotyped for the 3 miRNA single-nucleotide polymorphisms by polymerase chain reaction-restriction fragment length polymorphism. The miR-146aCG/miR-196a2TC combined genotype was less frequent in patients than in controls (P < .05), conferring less susceptibility. Using haplotype-based multifactor dimensionality reduction analysis, the C-C-A and G-T-A inferred haplotypes (miR-146a/miR-196a2/miR-499) were less frequent in patients, suggesting protective effects (P < .05 for each), whereas the C-T-A and G-C-A haplotypes were more frequent in patients (P < .05 for each). The C-T and G-C haplotypes (miR-146a/miR-196a2) were more frequent in patients, whereas the C-C and G-T haplotypes were less frequent in patients (P < .05 for each). However, none of the 3 miRNA polymorphisms alone was associated with POF risk. Our findings suggest that putative gene-gene interaction between miR-146 and miR-196a2 may be involved in POF development.
Asunto(s)
Pueblo Asiatico/genética , MicroARNs/genética , Polimorfismo de Nucleótido Simple/genética , Insuficiencia Ovárica Primaria/genética , Adulto , Femenino , Estudios de Asociación Genética/métodos , Predisposición Genética a la Enfermedad/genética , Humanos , Insuficiencia Ovárica Primaria/diagnóstico , Insuficiencia Ovárica Primaria/epidemiología , República de Corea/epidemiología , Factores de Riesgo , Adulto JovenRESUMEN
STUDY OBJECTIVE: To estimate the efficacy of alginate carboxymethylcellulose hyaluronic acid (ACH) gel to prevent intrauterine adhesions after hysteroscopic surgery in comparison with carboxymethylcellulose hyaluronic acid (CH) gel, which is known as an effective adhesion inhibitor. DESIGN: Randomized, multicenter, single-blind, clinical trial (Canadian Task Force classification I). SETTING: Tertiary university hospital. PATIENTS: One hundred eighty-seven patients with a surgically treatable intrauterine lesion (myomas, polyps, septa, intrauterine adhesion, dysfunctional uterine bleeding). INTERVENTIONS: Patients were randomized to 2 groups: hysteroscopic surgery plus intrauterine application of ACH or CH. MEASUREMENTS AND RESULTS: The rate of adhesion formation and the adhesion severity score with type and extent were calculated 4 weeks after surgery. The ACH group had results that were comparable to the CH group in terms of the development of intrauterine adhesions at 4 weeks follow-up. The adhesion severities were not different between the 2 groups. In a subgroup without baseline intrauterine adhesion, the ACH group showed a lower intrauterine adhesion rate than the CH group (p = .016). CONCLUSIONS: ACH had a comparable efficacy to CH in terms of the adhesion rate and severity. In the case of no baseline intrauterine adhesion, intrauterine application of ACH after hysteroscopic surgery had a lower rate of intrauterine adhesion than application of CH.
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Alginatos/uso terapéutico , Carboximetilcelulosa de Sodio/uso terapéutico , Ácido Hialurónico/uso terapéutico , Adherencias Tisulares/prevención & control , Enfermedades Uterinas/cirugía , Adulto , Alginatos/efectos adversos , Carboximetilcelulosa de Sodio/efectos adversos , Femenino , Geles , Humanos , Ácido Hialurónico/efectos adversos , Histeroscopía/efectos adversos , Índice de Severidad de la Enfermedad , Método Simple Ciego , Adherencias Tisulares/etiologíaRESUMEN
PROBLEM: The miR-196a2T>C and miR-499A>G polymorphisms have been reported to be genetic risk factors for recurrent spontaneous abortion; however, that previous study focused on the genetic analyses of pregnant women rather than aborted fetuses. Because annexin A1 is a target of miR-196a2 and is related to anti-inflammation, miR-196a2 may be immunologically important. Moreover, miR-146a, miR-149, miR-196a2, and miR-499 have shown associations with immune responses. METHOD OF STUDY: One hundred and eighty-two spontaneously aborted fetuses (SAFs) were <20 weeks of gestational age. The control subjects were 101 healthy children and 302 adults collected from a convenience sample. Polymerase chain reaction and restriction fragment length polymorphism analysis was performed to identify the miR-146aC>G, miR-149T>C, miR-196a2T>C, and miR-499A>G genotypes. RESULTS: Chromosomally normal SAFs had significantly different frequencies of the miR-196a2CC, miR-146aCC/miR-196a2CC, and miR-149TT/miR-196a2CC genotypes compared with control subjects. CONCLUSIONS: miR-196a2CC, miR-146aCC/miR-196a2CC, and miR-149TT/miR-196a2CC in fetuses are possible risk factors for spontaneous abortion.
Asunto(s)
Aborto Habitual/genética , Pueblo Asiatico/genética , Predisposición Genética a la Enfermedad , MicroARNs/genética , Adolescente , Adulto , Anciano , Niño , Femenino , Edad Gestacional , Humanos , Corea (Geográfico) , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Embarazo , Factores de RiesgoRESUMEN
OBJECTIVE: The aim of our study was to investigate whether methylenetetrahydrofolate reductase (MTHFR) gene variant (MTHFR 677C>T) and thymidylate synthase (TS) gene variants (TS enhancer region [TSER] and TS 1494del6) confer a risk for premature ovarian failure (POF). METHODS: We genotyped 136 POF patients and 236 controls among Korean women for the three single nucleotide polymorphism sites using polymerase chain reaction restriction fragment length polymorphism analysis. Differences in the MTHFR 677C>T, TSER, and TS 1494del6 genotype frequencies between POF patients and controls were compared, and odds ratios (ORs) and 95% CIs were determined as a measure of the strength of the association between genotypes and POF. RESULTS: The MTHFR 677CT and CT + TT variant genotypes were more frequent in POF patients than in controls (OR, 2.249; 95% CI, 1.317-3.843; and OR, 2.132; 95% CI, 1.268-3.585, respectively). The combined genotype frequencies of MTHFR 677CT + TT/TSER 3R3R and 677CT + TT/TS 1494del6 del6/del6 were higher in patients than in controls (OR, 2.300; 95% CI, 1.219-4.337; and OR, 3.314; 95% CI, 1.623-6.767, respectively). The T-3R-del6 and T-2R-del6 (MTHFR 677C>T/TSER/TS 1494del6) haplotypes were more frequent in patients (OR, 1.450; 95% CI, 1.050-2.002; and OR, 2.911; 95% CI, 1.191-7.117, respectively), whereas the C-2R-del6 haplotype was less frequent in patients (OR, 0.372; 95% CI, 0.152-0.912). The T-del6 (MTHFR 677/TS 1494del6) haplotype frequency was higher among patients (OR, 1.653; 95% CI, 1.206-2.266), whereas the C-del6 haplotype frequency was lower among patients (OR, 0.700; 95% CI, 0.516-0.950). We did not find an association between TSER or TS 1494del6 polymorphisms and POF. CONCLUSIONS: Our data suggest that the MTHFR 677T allele may increase the risk for POF, which could lead to the development of novel genetic markers for predicting the risk of POF in patients.
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Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Longitud del Fragmento de Restricción/genética , Insuficiencia Ovárica Primaria/genética , Timidilato Sintasa/genética , Adulto , Elementos de Facilitación Genéticos/genética , Femenino , Frecuencia de los Genes/genética , Predisposición Genética a la Enfermedad/genética , Genotipo , Haplotipos , Humanos , Oportunidad Relativa , República de CoreaRESUMEN
OBJECTIVE: The aim of the study was to investigate whether the -604T>C, 1192G>A, and 1719A>T polymorphisms in the kinase insert domain-containing receptor (KDR) gene confer risk for premature ovarian failure (POF) in Korean women. METHODS: DNA samples from 133 POF patients and 230 controls were genotyped for the three KDR single nucleotide polymorphisms by polymerase chain reaction-restriction fragment length polymorphism analysis. RESULTS: The POF patients had significantly increased frequencies of the KDR -604TC and -604TC + CC genotypes (odds ratio [OR], 1.975; 95% CI, 1.219-3.201 and OR, 1.948; 95% CI, 1.221-3.109, respectively) and of the -604TC + CC/1192GG combined genotype (OR, 2.271; 95% CI, 1.359-3.795) and a decreased frequency of the 1192GA genotype (OR, 0.457; 95% CI, 0.231-0.905) compared with the controls. The genotype frequency of the 1719A>T polymorphism was not significantly different between the two groups. The frequencies of the KDR -604C/1192G/1719T, -604C/1192G, and -604C/1719T haplotypes (OR, 3.319; 95% CI, 1.564-7.041; OR, 2.083; 95% CI, 1.351-3.212; and OR, 1.979; 95% CI, 1.073-3.649, respectively) were significantly higher among POF patients than controls, whereas the -604T/1719T haplotype frequency (OR, 0.657; 95% CI, 0.472-0.915) was lower among POF patients. CONCLUSIONS: Carriers of the KDR -604C variant allele (-604TC and -604TC + CC genotypes; -604TC + CC/1192GG combined genotype; -604C/1192G/1719T haplotype, -604C/1192G haplotype, -604C/1719T haplotype) are consistently more prevalent among POF patients than among controls, suggesting that the KDR -604C allele may increase the risk of POF development in Korean women.
Asunto(s)
Polimorfismo Genético/genética , Insuficiencia Ovárica Primaria/genética , Receptor 2 de Factores de Crecimiento Endotelial Vascular/genética , Adulto , Pueblo Asiatico , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad/genética , Genotipo , Haplotipos , Humanos , Desequilibrio de Ligamiento , Polimorfismo de Longitud del Fragmento de Restricción/genética , Polimorfismo de Nucleótido Simple/genética , República de CoreaRESUMEN
The objective was to investigate the association between idiopathic recurrent spontaneous abortion (RSA) and 3 SLC19A1 polymorphisms (-43T>C, 80G>A, and 696C>T). DNA from 269 patients with RSA and 125 controls were genotyped for the 3 SLC19A1 single nucleotide polymorphisms (SNPs) by polymerase chain reaction-restriction fragment length polymorphism. Homocysteine and folate levels of 100 patients with RSA were available for analysis. The combination genotypes of SLC19A1 -43TC/80GG, -43TC/80AA, and -43CC/80GA; 80GA/696TT, 80AA/696CC; and -43TC/696CC were less frequent in patients with RSA compared to controls (P < .05 for each). The -43C/80A/696 T and -43T/80G/696C haplotypes were more frequent in patients than controls, whereas -43T/80A/696C, -43C/80A/696C, -43C/80G/696C, -43C/80G/696T, and -43T/80G/696T haplotypes were less frequent in patients (P < .05 for each). The -43T/80G and 80A/696T haplotypes were more frequent in patients, while -43T/80A, -43C/80G, 80A/696C, 80G/696T, and -43C/696C haplotypes occurred less frequently in patients (P < .05 for each). The associations between idiopathic RSA occurrence and SLC19A1 -43T>C/80G>A/696C>T polymorphisms were identified and can be developed as biomarkers for RSA risk.
Asunto(s)
Aborto Habitual/genética , Haplotipos/genética , Polimorfismo de Nucleótido Simple/genética , Proteína Portadora de Folato Reducido/genética , Aborto Habitual/sangre , Adulto , Femenino , Ácido Fólico/sangre , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Homocisteína/sangre , Humanos , Corea (Geográfico) , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Embarazo , Factores de RiesgoRESUMEN
AIM: The aim of this study was to investigate the association of microRNA polymorphisms (miR-146aC>G, miR-149T>C, miR-196a2T>C, and miR-499A>G) in Korean patients with recurrent spontaneous abortion (RSA). METHODS: We conducted a case-control study of 564 Korean women: 330 patients with at least two unexplained consecutive pregnancy losses and 234 healthy controls with at least one live birth and no history of pregnancy loss. RESULTS: RSA patients exhibited significantly different frequencies of the miR-196a2CC (TT+TC vs. CC; adjusted odds ratio [AOR], 1.587; 95% confidence interval [CI], 1.0422.417) and miR-499AG+GG genotypes (AOR, 1.587; 95% CI, 1.0962.298) [corrected] compared with the control group. The combination of miR-196a2CC and miR-499AG+GG showed synergistic effects (AOR, 3.541; 95% CI, 1.6457.624). CONCLUSION: miR-196a2CC, miR-499AG+GG, and the miR-196a2CC/miR-499AG+GG combination are significantly associated with idiopathic RSA in Korean women.
Asunto(s)
Aborto Habitual/genética , Predisposición Genética a la Enfermedad , MicroARNs , Polimorfismo de Nucleótido Simple , Adulto , Pueblo Asiatico/genética , Estudios de Casos y Controles , Femenino , Estudios de Asociación Genética , Humanos , Corea (Geográfico) , Persona de Mediana Edad , Embarazo , RiesgoRESUMEN
PROBLEMS: The VEGF-1154G>A polymorphism has been reported to be a genetic risk factor for recurrent spontaneous abortion in various studies; however, these studies have focused on genetic analyses of pregnant women rather than aborted fetuses. To evaluate and confirm the association between the VEGF-1154G>A polymorphism and spontaneous abortion, we focused on the relationship between four polymorphisms in the VEGF gene (-2578C>A, -1154G>A, -634G>C, and 936C>T) and spontaneously aborted fetuses (SAFs). METHOD OF STUDY: The subjects included 118 SAFs at <20 weeks gestation and 380 normal controls consisting of children and adults. The polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis. RESULTS: Spontaneously aborted fetuses exhibited significantly different frequencies of the -2578CA+AA/-634CC and -1154GA+AA/-634CC combined genotypes compared with control subjects. The frequency of the -2578A/-1154A/-634C/936C haplotype was significantly higher in SAFs. CONCLUSIONS: VEGF genes -2578CA+AA/-634CC and -1154GA+AA/-634CC in the fetus are possible risk factors for spontaneous abortion.
Asunto(s)
Feto Abortado , Aborto Espontáneo/genética , Polimorfismo Genético/genética , Factor A de Crecimiento Endotelial Vascular/genética , Adulto , Anciano , Niño , Femenino , Frecuencia de los Genes , Genotipo , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Embarazo , Factores de RiesgoRESUMEN
OBJECTIVE: To study the association of vascular endothelial growth factor (VEGF) polymorphisms (-2578C>A, -1154G>A, -634G>C, and 936C>T) with premature ovarian failure (POF) in Korean patients. STUDY DESIGN: Prospective case-control study. One hundred and thirty five patients with POF and confirmed serum follicle-stimulating hormone levels of >40IU/L before the age of 40 years and 120 healthy controls with at least one live birth, regular menstrual cycles, and karyotype 46, XX. RESULTS: POF patients exhibited significantly different frequencies of the VEGF -1154GA genotype (odds ratio [OR], 2.002; 95% confidence interval [CI], 1.116-3.592; P=0.019), and -2578CA+AA/-1154GA+AA combination genotype (OR, 1.805; 95% CI, 1.013-3.217; P=0.044) compared to the control group. The frequency of the -2578A/-1154A haplotype (OR, 1.647; 95% CI, 1.017-2.677; P=0.041) was significantly higher in the POF group than in the control group. CONCLUSION: The VEGF -1154G>A mutation, -2578CA+AA/-1154GA+AA combination genotype, and -2578A/-1154A haplotype are significantly associated with POF in Korean women.
Asunto(s)
Polimorfismo Genético , Insuficiencia Ovárica Primaria/genética , Factor A de Crecimiento Endotelial Vascular/genética , Adulto , Alelos , Estudios de Casos y Controles , Femenino , Hormona Folículo Estimulante Humana/sangre , Frecuencia de los Genes , Estudios de Asociación Genética , Haplotipos , Humanos , Mutación , Polimorfismo de Nucleótido Simple , Insuficiencia Ovárica Primaria/sangre , Regiones Promotoras Genéticas , Estudios Prospectivos , República de CoreaRESUMEN
OBJECTIVE: To investigate the association of three common polymorphisms (-786T>C, 4a4b, 894G>T) of the endothelial nitric oxide synthase (eNOS) gene with idiopathic recurrent spontaneous abortion (RSA). STUDY DESIGN: In a prospective case-control study, 340 patients with unexplained recurrent spontaneous abortion and 115 controls with at least one live birth and no history of pregnancy loss were enrolled. Polymerase chain reaction and restriction fragment length polymorphism analysis were performed to identify the genotypes. RESULTS: The recurrent spontaneous abortion patients exhibited a significantly higher frequency of the eNOS 894GT+TT genotype (Odds ratio (OR), 2.39; 95% confidence interval (CI), 1.25-4.58; p=0.008) compared to the control group; no significant differences in the -786T>C and 4a4b genotype frequencies were observed. The eNOS 894GT genotype (OR, 1.94; 95% CI, 1.00-3.75; p=0.056) was marginally different between recurrent spontaneous abortion and control groups. The frequency of the -786T-4b-894T haplotype (p=0.001) was significantly higher in the idiopathic RSA group than in the control group. CONCLUSION: The eNOS 894GT+TT genotype and the -786T-4b-894T haplotype are significantly associated with idiopathic recurrent spontaneous abortion in Korean women.
Asunto(s)
Aborto Habitual/genética , Aborto Espontáneo/genética , Óxido Nítrico Sintasa de Tipo III/genética , Polimorfismo Genético , Adulto , Pueblo Asiatico/genética , Estudios de Casos y Controles , Femenino , Haplotipos , Humanos , Persona de Mediana Edad , Embarazo , Estudios Prospectivos , Adulto JovenRESUMEN
OBJECTIVE: The aim of the present study is to determine long-term clinical efficacy of uterine fibroid embolization (UFE) for symptomatic fibroids in conjunction with MR evaluation. MATERIALS AND METHODS: Sixteen patients with a follow-up period of 4 years or longer were analyzed retrospectively. Ages ranged from 27 to 45 (mean 39.5) years. Mean follow-up periods were 5.8 years (range: 4.1-6.9 years). The symptom changes, in terms of menorrhagia and dysmenorrhea and bulk-related symptoms, were assessed. The primary embolic agent was polyvinyl alcohol particle (250-710microm). All patients underwent preprocedural and long-term follow up MR imaging. Uterine volumes were calculated using MRI. RESULTS: Symptom improvements were reported for menorrhagia (8/9, 88.9%), dysmenorrhea (5/5, 100%), and bulk-related symptoms (7/9, 77.8%) at long-term follow up. Two patients (12.5%) had symptom recurrences at long-term follow-up. Tumor regrowth from incomplete infarction was a cause of recurrence in one patient and newly developed leiomyomas in the other one. One patient underwent hysterectomy because endometriosis developed 4 years after UFE. Of the 14 necrotic myomas on short-term follow up MR after UFE, eight (57.1%) demonstrated maintaining necrosis with further shrinkage and six (42.9%) were no longer visualized on long-term follow up MR images. Overall, the mean volume reduction rates of the predominant fibroid and uterus were 80.5%, 36.7% at long-term follow up, respectively. CONCLUSION: UFE is an effective treatment for symptomatic fibroids with an acceptable long-term success rate. Long-term MR imaging after UFE revealed persistent necrotic fibroid, non-visualization of fibroids and tumor regrowth when incompletely infarcted.
Asunto(s)
Leiomioma/diagnóstico , Leiomioma/terapia , Imagen por Resonancia Magnética/métodos , Embolización de la Arteria Uterina/métodos , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/terapia , Adulto , Femenino , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Pronóstico , Resultado del TratamientoRESUMEN
Previous studies reported an association of methylenetetrahydrofolate reductase (MTHFR) polymorphisms and recurrent spontaneous abortion, whereas no studies are available for the association with thymidylate synthase enhancer region (TSER) genotypes. Mutations of MTHFR and TSER are not likely significant risk factors of idiopathic recurrent spontaneous abortion in Korean women.
Asunto(s)
Aborto Espontáneo/etnología , Aborto Espontáneo/genética , Elementos de Facilitación Genéticos/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo Genético/genética , Timidilato Sintasa/genética , Adulto , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad/genética , Genotipo , Humanos , Corea (Geográfico) , Recurrencia , Factores de RiesgoRESUMEN
OBJECTIVE: To report a successful treatment of symptomatic adenomyosis using magnetic resonance-guided focused ultrasound surgery (MRgFUS). DESIGN: Case study. SETTING: General hospital. PATIENT(S): A 47-year-old premenopausal woman with focal symptomatic adenomyosis. INTERVENTION(S): MRgFUS. MAIN OUTCOME MEASURE(S): Score on the Uterine Fibroids Symptoms Quality of Life (UFS-QOL) questionnaire and the degree of menstrual pain. RESULT(S): Uterine Fibroids Symptoms reduced from 53 to 28 and the degree of menstrual pain reduced from 10 to 5. CONCLUSION(S): For adenomyosis patients who wish to preserve their uterus, MRgFUS may be a promising alternative to hysterectomy. Additional studies of the safety and efficacy of MRgFUS in this indication should be conducted.