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Gaedigk, Andrea,Garcia-Ribera, Carles,Jeong, Hye-Eun,Shin, Jae-Gook,Hernandez-Sanchez, Juanjo,Hernandez-Sanchez, Juanjo T Ashley Publications 2014 Pharmacogenomics Vol.15 No.9
<P>A Han Chinese patient failed CYP2D6 genotype analysis with the AmpliChip CYP450 Test. The CYP2D6 gene locus of the patient and her son were extensively genotyped including copy number variation and gene resequencing. Two SNPs were discovered on the patient's CYP2D6*1 allele, -498C>A and 1661G>C, while the son's CYP2D6*1 allele had -498C>A only. AmpliChip failure was attributed to the presence of a CYP2D6*1 allele carrying the 1661G>C SNP. Functional analyses of -498C>A did not reveal altered activity in vitro or in vivo suggesting that both novel CYP2D6*1 subvariants are functional. The implementation of pharmacogenetics-guided drug therapy relies on accurate clinical-grade genotype analysis. Although the AmpliChip is a reliable platform, numerous allelic (sub)variants and gene arrangements are not detected or may trigger no calls. While such cases may be rare, the clinical/genetic testing community must be aware of the challenges of CYP2D6 testing on the AmpliChip platform and implications regarding accuracy of test results.</P>
Guardo, Laura Alonso,Gala, Carlos Cano,Poveda, David Sanchez,Juan, Pablo Rueda,Sanchez Montero, Francisco Jose,Garzon Sanchez, Jose Carlos,Lamas, Juan Ignacio Santos,Sanchez Hernandez, Miguel Vicente The Korean Pain Society 2016 The Korean Journal of Pain Vol.29 No.1
Background: Sacral nerve stimulation is a therapeutic option with demonstrated efficacy for conditions presenting with perineal pain caused by different etiologies. We aimed to assess whether a sacral electrode ($Interstim^{(R)}$, Medtronic, Minneapolis, MN, USA) inserted through the caudal pathway is able to offer an acceptable level of sacral stimulation and rate of catheter migration. Methods: We present 12 patients with pelvic pain who received sacral neuromodulation via the sacral hiatus with the InterStim electrode. We evaluated patient satisfaction as well as migration and removal of the electrode, if necessary. Results: Our experience included 12 patients, 10 women and two men, with a mean age of 60 years. In eight of the 12 patients, the initial therapy was effective, and the final system implantation was performed. During subsequent follow-up, patient satisfaction was good. To date, there have been no cases of electrode displacement or migration. Conclusions: The caudal insertion of the InterStim electrode, with its own fixation system, and initially designed for transsacral insertion, appears in our experience to be a satisfactory option which can minimize electrode displacements, achieving similar results in therapeutic efficacy and causing no difficulties in removal.
Leon-Hernandez, Saul Renan,Padilla, Eleazar Lara,Algara, Alfredo Cortes,Rodriguez, Noemi Cardenas,Sanchez, Esau Floriano,Cruz, Jaime Lopez,Barradas, Cesar Miguel Mejia,Bandala, Cindy Asian Pacific Journal of Cancer Prevention 2014 Asian Pacific journal of cancer prevention Vol.15 No.14
Background: An association between alcohol/tobacco use and risk of metastasis in breast cancer has been clearly shown. Materials and Methods: The present study explored, in 48 samples of tissue from mammary ductal carcinoma (taken from Mexican women with an average age of $58.2{\pm}10.9$ years), the association of risk of metastasis with the status of hormonal receptors and the c-erbB2 protein (by immunohistochemistry) as well as clinical, histopathological and sociodemographic factors. Results: Of 48 patients, 41.6% (20/48) presented with metastasis, 43.8% were positive for the estrogen receptor (RE+), 31.3% for the progesterone receptor (RP+) and 47.7% for c-erbB2 (c-erbB2+). The following combinations were found: RE+/RP+/c-erbB2+ 8.3%, RE+/RP+ 22.9%, RE+/RP- 20.8%, RE-/RP+ 8.3%, RE-/RP-/c-erbB2- 22.9% and RE-/RP- 47.8%. There were 12 patients who used alcohol/tobacco, of which 91.6% did not present metastasis and 81.9% were RE-/RP-. Compared to the RE-/RP-/c-erbB2+, the RE+/RP+/c-erbB2+ group had a 15-fold greater risk for metastasis (95%CI, 0.9-228.8, p=0.05). The carriers of the double negative hormonal receptors had a 4.7 fold greater probability of being (or having been) smokers or drinkers (95%CI, 1.0-20.4, p = 0.03). Conclusions: There was a clear protective effect of using alcohol and/or tobacco, in the cases included in the present study of mammary ductal carcinoma, associated with double negative hormonal receptors. However, this association could be due to a protective factor not measured (Neyman bias) or to a bias inherent in the rate of hospitalization (Berkson fallacy). This question should be explored in a broad prospective longitudinal study.
Downregulated microRNAs in the colorectal cancer: diagnostic and therapeutic perspectives
( Rosa Hernandez ),( Ester Sanchez-jimenez ),( Consolacion Melguizo ),( Jose Prados ),( Ana Rosa Rama ) 생화학분자생물학회(구 한국생화학분자생물학회) 2018 BMB Reports Vol.51 No.11
Colorectal cancer (CRC), the third most common cancer in the world, has no specific biomarkers that facilitate its diagnosis and subsequent treatment. The miRNAs, small single-stranded RNAs that repress the mRNA translation and trigger the mRNA degradation, show aberrant levels in the CRC, by which these molecules have been related with the initiation, progression, and drug-resistance of this cancer type. Numerous studies show the microRNAs influence the cellular mechanisms related to the cell cycle, differentiation, apoptosis, and migration of the cancer cells through the post-transcriptionally regulated gene expression. Specific patterns of the upregulated and down-regulated miRNA have been associated with the CRC diagnosis, prognosis, and therapeutic response. Concretely, the downregulated miRNAs represent attractive candidates, not only for the CRC diagnosis, but for the targeted therapies via the tumor-suppressing microRNA replacement. This review shows a general overview of the potential uses of the miRNAs in the CRC diagnosis, prognosis, and treatment with a special focus on the downregulated ones. [BMB Reports 2018; 51(11): 563-571]
Villalobos, Guiehdani,Sanchez-Aguillon, Fabiola,Carmona-Maldonado, Marcia Veronica,Gonzalez-Arenas, Nelly Raquel,Lopez-Escamilla, Eduardo,Hernandez-Castro, Rigoberto,Romero-Valdovinos, Mirza,Martinez- The Korea Society for Parasitology and Tropical Me 2022 The Korean Journal of Parasitology Vol.60 No.3
There have been few reports on extra-enteric infections by Blastocystis STs and none have been molecularly identified in samples from human reproductive organs. We report for the first time the identification of 3 different subtypes of Blastocystis (ST1-3) in vaginal and sperm samples, from patients infected with Trichomonas vaginalis. Blastocystis STs were identified by PCR-sequencing and by phylogenetic inferences using 28 vaginal swab samples and 7 sperm samples from patients trichomoniasis. Blastocystis STs were identified in 6 of 28 vaginal swabs (21.4%) and in 3 of 7 sperm samples (42.8%). In both biological samples, STs 1-3 were found; one vaginal sample showed subtype co-infection with ST1 and ST3. High genetic variation was observed in the sequences obtained and no specific clustering in the phylogenetic trees was detected. Most of the haplotypes identified were placed far from the main dispersal centers. Our finding suggested that incorrect cleaning of the genital area or a contamination by combination of anal and vaginal intercourse.
Poster Session : PS 0633 ; Respiratory Medicine ; COPD and Percutaneous Coronary Intervention
( Pavel Alexei Chisholm Sanchez ),( Javier De Miguel Diez ),( Diego Jose Castrillon Rodriguez ),( Rodrigo Jimenez Garcia ),( Valentin Hernandez Barrera ),( Pilar Carrasco Garrido ),( Ana Lopez De Andr 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1
Background: To compare trends in the use and outcomes of PCI in patients COPD and non COPD patients in Spain from 2001 to 2011. Methods: We identifi ed all patients who had undergone PCI, using national hospital discharge data. Discharges were divided, according to history of COPD, in 2 groups: COPD and non COPD. The incidence of discharges attributed to percutaneous coronary intervention were calculated and stratifi ed by COPD status. We calculated comorbidity Charlson Comorbidity Index (CCI), length of stay (LOS) and in-hospital mortality (IHM). Results: From 2001 to 2011, 434,108 PCI´s were performed. The incidence of use of PCI increased over time in both groups (p<0.05), COPD and non COPD, from 4.94 per 100,000 inhabitants in 2001 to 11.76 in 2011 in COPD, and from 87.74 to 177.56 in non COPD. Comorbidity increased signifi cantly in both groups (p<0.05). The average LOS decreased signifi cantly over time, from 9 (IQR 10) days in 2001 to 6 (IQR 6) days in COPD patients, and from 6 (IQR 9) days in 2001 to 5 (IQR 6) days in patients without COPD. IHM changed signifi cantly over the entire study period among patients with COPD (from 2.65% in 2001 to 2.66% in 2011, p<0,05, x2 linear trend analysis) and non COPD (from 1.92% in 2001 to 1.85% in 2011, p<0,05, x2 linear trend analysis). Conclusions: The incidence of use of PCI procedures increased over time in COPD and non COPD patients. Increasing comorbidity can be associated with a higher use of PCI procedures. LOS and IHM were higher in patients with COPD than in those without this disease.
Jennifer Palacio,Daisy Sanchez,Shenae Samuels,Bar Y. Ainuz,Raelynn M. Vigue,Waleem E. Hernandez,Christopher J. Gannon,Omar H. Llaguna 한국간담췌외과학회 2023 Annals of hepato-biliary-pancreatic surgery Vol.27 No.3
Backgrounds/Aims: Current literature presents limited data regarding outcomes following conversion at the time of minimally invasive pancreaticoduodenectomy (MI-PD). Methods: The National Cancer Database was queried for patients who underwent pancreaticoduodenectomy. Patients were stratified into three groups: MI-PD, converted to open pancreaticoduodenectomy (CO-PD), and open pancreaticoduodenectomy (O-PD). Multivariable modeling was applied to compare outcomes of MI-PD and CO-PD to those of O-PD. Results: Of 17,570 patients identified, 12.5%, 4.2%, and 83.4% underwent MI-PD, CO-PD, and O-PD, respectively. Robotic pancreaticoduodenectomy (R-PD) resulted in a higher lymph node yield (n = 23.2 ± 12.2) even when requiring conversion (n = 22.4 ± 13.2, p < 0.001). Margin positivity was higher in the CO-PD group (26.6%) than in the MI-PD group (21.3%) and the O-PD (22.6%) group (p = 0.017). Length of stay was shorter in the MI-PD group (laparoscopic pancreaticoduodenectomy 10.4 ± 8.6, R-PD 10.6 ± 8.8) and the robotic converted to open group (10.7 ± 6.4) than in the laparoscopic converted to open group (11.2 ± 9) and the O-PD group (11.5 ± 8.9) (p < 0.001). After adjusting for patient and tumor characteristics, both MI-PD (odds ratio = 1.40; p < 0.001) and CO-PD (odds ratio = 1.24; p = 0.020) were significantly associated with an increased likelihood of long-term survival. Conclusions: CO-PD does not negatively impact perioperative or oncologic outcomes.
Gutierrez-Malacatt, Humberto,Ayala-Sanchez, Manuel,Aquino-Ortega, Xochitl,Dominguez-Rodriguez, Jacqueline,Martinez-Tovar, Adolfo,Olarte-Carrillo, Irma,Martinez-Hernandez, Angelica,Cecilia, Contreras-C Asian Pacific Journal of Cancer Prevention 2016 Asian Pacific journal of cancer prevention Vol.17 No.4
Background: Chronic myeloid leukemia (CML) is one of the most frequent hematopoietic malignancies in the elderly population; however, knowledge is limited regarding the genetic factors associated with increased risk for CML. Polymorphisms affecting microRNA (miRNA) biogenesis or mRNA:miRNA interactions are important risk factors in the development of different types of cancer. Thus, we carried out a case-control study to test the association with CML susceptibility of gene variants located in the miRNA machinery genes AGO1 (rs636832) and GEMIN4 (rs2740348), as well as in the miRNA binding sites of the genes BRCA1 (rs799917) and KRAS (rs61764370). Materials and Methods: We determined the genotype of 781 Mexican-Mestizo individuals (469 healthy subjects and 312 CML cases) for the four polymorphisms using TaqMan probes to test the association with CML susceptibility. Results: We found a borderline association of the minor homozygote genotype of the KRAS_rs61764370 polymorphism with an increased risk for CML susceptibility (P = 0.06). After gender stratification, this association was significant only for women (odds ratio [OR] = 13.41, P = 0.04). The distribution of the allelic and genotypic frequencies of the four studied SNPs was neither associated with advanced phases of CML nor treatment response. Conclusions: To the best of our knowledge, this study is the first to show a significant association of the KRAS_rs61764370 SNP with CML. To further determine such an association of with CML susceptibility, our results must be replicated in different ethnic groups.
Guevara-Balcazar, Gustavo,Ramirez-Sanchez, Israel,Mera-Jimenez, Elvia,Rubio-Gayosso, Ivan,Aguilar-Najera, Maria Eugenia,Castillo-Hernandez, Maria C. The Korean Society of Pharmacology 2017 The Korean Journal of Physiology & Pharmacology Vol.21 No.4
Vascular reactivity can be influenced by the vascular region, animal age, and pathologies present. Prostaglandins (produced by COX-1 and COX-2) play an important role in the contractile response to phenylephrine in the abdominal aorta of young rats. Although these COXs are found in many tissues, their distribution and role in vascular reactivity are not clear. At a vascular level, they take part in the homeostasis functions involved in many physiological and pathologic processes (e.g., arterial pressure and inflammatory processes). The aim of this study was to analyze changes in the contractile response to phenylephrine of thoracic/abdominal aorta and the coronary artery during aging in rats. Three groups of rats were formed and sacrificed at three distinct ages: prepubescent, young and old adult. The results suggest that there is a higher participation of prostanoids in the contractile effect of phenylephrine in pre-pubescent rats, and a lower participation of the same in old rats. Contrarily, there seems to be a higher participation of prostanoids in the contractile response of the coronary artery of older than pre-pubescent rats. Considering that the changes in the expression of COX-2 were similar for the three age groups and the two tissues tested, and that expression of COX-1 is apparently greater in older rats, COX-1 and COX-2 may lose functionality in relation to their corresponding receptors during aging in rats.