Papers by Patricia Esperón
Familial cancer, Apr 30, 2024
Personalized Medicine, Oct 31, 2023
Colorectal Cancer (CRC) is the second leading cause of cancerrelated death worldwide, affecting b... more Colorectal Cancer (CRC) is the second leading cause of cancerrelated death worldwide, affecting both men and women. A genetic CRC characteristic is the presence of microsatellite instability (MSI). This instability could result from the inactivation of the Mismatch Repair (MMR) system by either MMR gene mutations, or MMR gene promoter hypermethylation, mainly in the MLH1 gene promoter. Lynch Syndrome (LS), the most common form of hereditary colorectal cancer, is caused by germline mutations in MMR genes. When a tumor has a high MSI, prior to the germline genetic study of Lynch Syndrome, a methylation study is recommended to rule out the diagnosis of sporadic colorectal cancer. The MLH1 gene promoter methylation status of sixty-three MSI colon tumors and ten normal colon tissues using different techniques was evaluated. DNA sequencing, Real-Time PCR-High Resolution Melting (PCR-HRM), methylationspecific-PCR, Combined Bisulphite Restriction Analysis (COBRA) and Methylation Specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA) techniques were tested. The same ten MSI samples were found to be methylated using any of the four techniques. Since all the methods similarly evaluated the MLH1 methylation status, which one to choose would depend on the convenience and availability of each laboratory. After our evaluation based on the main advantages (short turnaround time, high throughput, sensitivity, and ease of performance), we concluded that PCR-HRM was the most convenient screening method for the MLH1 methylation study.
Frontiers in Pharmacology, May 3, 2023
DOAJ (DOAJ: Directory of Open Access Journals), Mar 1, 2010
DOAJ (DOAJ: Directory of Open Access Journals), Jun 1, 2007
Los analfabetos del siglo XXI no serán aquellos que no puedan leer y escribir, sino aquellos que ... more Los analfabetos del siglo XXI no serán aquellos que no puedan leer y escribir, sino aquellos que no puedan aprender, desaprender y reaprender".
Genetics in Medicine, Sep 1, 2020
The original version of this Article did not contain details of Dutch Cancer Society (DCS) fundin... more The original version of this Article did not contain details of Dutch Cancer Society (DCS) funding (grant number UL 2017-8223) in the Acknowledgements section. This has now been corrected in both the PDF and HTML versions of the Article.
Genetics in Medicine, 2020
The original version of this Article did not contain details of Dutch Cancer Society (DCS) fundin... more The original version of this Article did not contain details of Dutch Cancer Society (DCS) funding (grant number UL 2017-8223) in the Acknowledgements section. This has now been corrected in both the PDF and HTML versions of the Article.
Journal of Cystic Fibrosis, 2012
We report a novel CFTR mutation in a Czech infant. An 8 weeks old boy came because IRT elevation ... more We report a novel CFTR mutation in a Czech infant. An 8 weeks old boy came because IRT elevation (118 ng/ml). Scoring of 50 CFTR mutation was provided using commercially available test Elucigene CF-EU2. Mutation F508del on one CFTR allele was detected. Sweat chloride was repeatedly higher (50.5; 55.3 mmol/l). The boy was born healthy with birth weight 3 600 g. A prolonged icterus with fototherapy followed. The child was pancreatic sufficient and gained well. No respiratory symptoms were involved. A pathological flora from upper respiratory tract was repeatedly present: Haemophilus influenzae, Staphylococcus aureus, Streptococcus pneumoniae. That why the genetic testing went on screening for rare and unknown mutation in the whole coding sequence of the CFTR gene to the 27 exons and their exon-intron boundaries using direct sequencing. This approach enabled us to identify the novel missense mutation c.2863T>C (S955P).. The patient was a compound heterozygote, the mutation c.2863T>G was inherited from his mother, and the F508del mutation from his father. This novel mutation is located in exon 17, which belongs to membrane spanning domain 2 (MSD2), which is implicated in forming the pore of the channel, and the corresponding CFTR variants retain normal amount of CFTR with some residual function at the apical membrane. Mutations in MSD2 are typically associated with a milder pancreatic phenotype (PS). Nevertheless, there is needed a consequential classification of this novel mutation based on its potential for causing disease and their implication for genetic counseling, that is, prenatal diagnosis and carrier testing.
Parasitology Research, Jun 25, 1998
Nuclei from Echinococcus granulosus protoscolices were isolated from infected sheep. Protein extr... more Nuclei from Echinococcus granulosus protoscolices were isolated from infected sheep. Protein extracts were prepared for analysis of DNA-protein interactions involving specific transcriptional regulatory factors. Gel mobility-shift assays were done using a heterologous probe containing binding sites for widespread transcription factors. A fragment of the promoter of GATA-1 transcription factor from the chicken was selected. When nuclear extracts from E. granulosus protoscolices were assayed a specific band shift was observed. The methodologies developed in this study could provide an important contribution for the characterization of the DNA-protein interactions involved in transcriptional regulation within the context of recent developments in the molecular biology of this parasite.
International Journal for Parasitology, 2000
In an attempt to understand the molecular basis of the development of Echinococcus granulosus, we... more In an attempt to understand the molecular basis of the development of Echinococcus granulosus, we have previously isolated several homeobox-containing genes (EgHbx1±5). Here we report the characterisation of the EgHbx1 proximal regulatory domain. EgHbx1 codes for an amino acid sequence presenting 90% identity at the homeodomain level with the Drosophila melanogaster NK1-S59 transcription factor. The proximal regulatory domain sequence and the transcription start site were determined. Electrophoretic mobility shift assays using nuclear extracts from protoscoleces revealed the presence of speci®c DNA±protein complexes. These results constitute a hint and provide new tools to decipher regulatory cascades during E. granulosus development.
Journal of Helminthology, Dec 1, 1997
In order to characterize GATA transcription factors in Echinococcus granulosus, a PCR-based cloni... more In order to characterize GATA transcription factors in Echinococcus granulosus, a PCR-based cloning strategy was developed. Degenerate oligonucleotides were designed for the most conserved sequence in GATA proteins that include 20 amino acids of the zinc domain. A 60 bp fragment was isolated that had high homology among this sequence and those reported in other species. An analogous sequence was obtained by performing the same procedure with DNA from the free living platyhelminth Dugesia tigrina. High stringency Southern blotting experiments confirmed the presence of this sequence in the parasite genome.
Japanese Journal of Gastroenterology Research
Colorectal Cancer (CRC) is the second leading cause of cancerrelated death worldwide, affecting b... more Colorectal Cancer (CRC) is the second leading cause of cancerrelated death worldwide, affecting both men and women. A genetic CRC characteristic is the presence of microsatellite instability
Journal of Cystic Fibrosis, 2013
Background: The clinical manifestations of CF can be wide-ranging and often require a variety of ... more Background: The clinical manifestations of CF can be wide-ranging and often require a variety of treatments administered by multidisciplinary teams. Long-term management of CF is related to disease severity and complications and impacts the costs associated with treatment of CF. Objective: To describe clinical characteristics and evaluate resource use in clinical practice by CF genotype. Methods: A retrospective chart review of 200 patients (pts) 6 years of age with CF and the G551D/other or DF508/DF508 mutation (genotypes that represent nearly 60% of UK pts) selected from four adult and four paediatric CF centres was performed. Each centre contributed 25 pts, including all G551D/other pts and randomly-selected DF508/DF508 pts. For each pt, the most recent two years of eligible, uninterrupted resource use and clinical data were collected. Data from June 2007 to March 2012 were used. Results: See Tables. Conclusion: These pts with CF had a pattern of high resource use, including multiple hospitalizations and the administration of polypharmacy. Resource use was similar across G551D/other and DF508/DF508 genotypes, despite some differences in clinical characteristics.
Rev Méd Urug, 2008
Introducción: la warfarina es un fármaco ampliamente utilizado como anticoagulante oral. Su estre... more Introducción: la warfarina es un fármaco ampliamente utilizado como anticoagulante oral. Su estrecho rango terapéutico y marcada variabilidad interindividual en la respuesta requieren un control riguroso en su administración para evitar accidentes hemorrágicos. Objetivos: correlacionar las variantes genéticas de CYP2C9*2 y *3 y VKORC1 (C1173T) con la respuesta y los efectos adversos. Material y método: los genotipos CYP2C9*1, *2, *3, y VKORC1 fueron obtenidos por PCR-RFLP y los resultados analizados usando el paquete estadístico SPSS 12.0. Resultados: hay una tendencia a la reducción de dosis en relación con la presencia de alelos polimórficos. Los portadores de CYP2C9*3 requirieron la menor dosis de mantenimiento, seguidos por los portadores de CYP2C9*2 y homocigotos CYP2C9 *1, en ese orden, (4,4±1,0 vesus 5,4±2,3 versus 7,0±3,6 mg/d, p=0,03). Los portadores CYP2C9*3 tuvieron, además, un aumento del riesgo de sobreanticoagulación y requirieron casi el doble de ajustes de dosis para lograr una adecuada anticoagulación. Para VKORC1, los homocigotas T/T necesitaron la dosis más baja, seguidos por los heterocigotas C/T y homocigotas C/C, en ese orden (
Revista Medica Del Uruguay, Oct 1, 2005
Clinical Chemistry
BACKGROUND We sought to evaluate, in patients on a liver transplantation waiting list, potential ... more BACKGROUND We sought to evaluate, in patients on a liver transplantation waiting list, potential biomarkers of the base calcineurin pathway activity with use of a new model of nonstimulated peripheral blood mononuclear cells (PBMC) and ex vivo response to tacrolimus (TAC). METHODS The calcineurin pathway activity was explored ex vivo in stimulated and nonstimulated PBMC from 19 patients. The inhibition of NFAT1 translocation to PBMC nuclei, expression of intracellular IL-2, and membrane CD25 in different T-cell subsets were measured by multiparametric flow cytometry before and after exposure to TAC. We also studied the influence on the individual response of polymorphisms in 3 key genes of the calcineurin pathway: PPIA, PPP3CA, and IL2RA. RESULTS All pharmacodynamics profiles closely fitted an I/Imax sigmoid model. Interindividual variability was higher in nonstimulated than in stimulated conditions, as well as in the presence of TAC. IL-2+CD8+ cells at TAC Imax showed the highest i...
Revista Médica del Uruguay, 2010
Rev Urug …, 2006
Introducción: la warfarina es el anticoagulante oral más usado en nuestro país y uno de los más u... more Introducción: la warfarina es el anticoagulante oral más usado en nuestro país y uno de los más usados a nivel mundial. Variantes polimórficas en varios genes
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Papers by Patricia Esperón