48 results on '"Maria-Elena Hernandez"'
Search Results
2. Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma
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Kathleen M. Schieffer, Alexander Z. Feldman, Esko A. Kautto, Sean McGrath, Anthony R. Miller, Maria Elena Hernandez-Gonzalez, Stephanie LaHaye, Katherine E. Miller, Daniel C. Koboldt, Patrick Brennan, Benjamin Kelly, Amy Wetzel, Vibhuti Agarwal, Margaret Shatara, Suzanne Conley, Diana P. Rodriguez, Rolla Abu-Arja, Ala Shaikhkhalil, Matija Snuderl, Brent A. Orr, Jonathan L. Finlay, Diana S. Osorio, Annie I. Drapeau, Jeffrey R. Leonard, Christopher R. Pierson, Peter White, Vincent Magrini, Elaine R. Mardis, Richard K. Wilson, Catherine E. Cottrell, and Daniel R. Boué
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Intracranial retinoblastoma ,Sellar-suprasellar retinoblastoma ,RB1 ,Structural variation ,DNA array-based methylation ,SMRT sequencing ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Retinoblastoma is a childhood cancer of the retina involving germline or somatic alterations of the RB Transcriptional Corepressor 1 gene, RB1. Rare cases of sellar-suprasellar region retinoblastoma without evidence of ocular or pineal tumors have been described. A nine-month-old male presented with a sellar-suprasellar region mass. Histopathology showed an embryonal tumor with focal Flexner-Wintersteiner-like rosettes and loss of retinoblastoma protein (RB1) expression by immunohistochemistry. DNA array-based methylation profiling confidently classified the tumor as pineoblastoma group A/intracranial retinoblastoma. The patient was subsequently enrolled on an institutional translational cancer research protocol and underwent comprehensive molecular profiling, including paired tumor/normal exome and genome sequencing and RNA-sequencing of the tumor. Additionally, Pacific Biosciences (PacBio) Single Molecule Real Time (SMRT) sequencing was performed from comparator normal and disease-involved tissue to resolve complex structural variations. RNA-sequencing revealed multiple fusions clustered within 13q14.1-q21.3, including a novel in-frame fusion of RB1-SIAH3 predicted to prematurely truncate the RB1 protein. SMRT sequencing revealed a complex structural rearrangement spanning 13q14.11-q31.3, including two somatic structural variants within intron 17 of RB1. These events corresponded to the RB1-SIAH3 fusion and a novel RB1 rearrangement expected to correlate with the complete absence of RB1 protein expression. Comprehensive molecular analysis, including DNA array-based methylation profiling and sequencing-based methodologies, were critical for classification and understanding the complex mechanism of RB1 inactivation in this diagnostically challenging tumor.
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- 2021
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3. Modulation of TNF‐α, interleukin‐6, and interleukin‐10 by nebivolol–valsartan and nebivolol–lisinopril polytherapy in SHR rats
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Diego, Lezama‐Martinez, primary, Jazmin, Flores‐Monroy, additional, Diana, Ramirez‐Hernandez, additional, German‐Isauro, Garrido‐Farina, additional, Salvador, Fonseca‐Coronado, additional, and Maria‐Elena, Hernandez‐Campos, additional
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- 2024
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4. The effects of biological sex and cardiovascular disease on COVID-19 mortality
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Maria Elena Hernandez-Hernandez, Robert Y. L. Zee, Patricia Pulido-Perez, Enrique Torres-Rasgado, and Jose R. Romero
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Male ,Cardiovascular Diseases ,Risk Factors ,SARS-CoV-2 ,Physiology ,Physiology (medical) ,COVID-19 ,Humans ,Female ,Comorbidity ,Hospital Mortality ,Cardiology and Cardiovascular Medicine - Abstract
Cardiovascular disease (CVD) is a common comorbidity observed in patients with coronavirus disease 2019 (COVID-19), which is associated with increased severity and mortality. However, the effects of biological sex on CVD-associated mortality in patients with COVID-19 are poorly established, particularly among Hispanic/Latin Americans. We examined the association of preexisting CVD with COVID-19 mortality in hospitalized Latin American men and women. This multicenter study included Mexican patients hospitalized with a positive diagnosis of COVID-19. The main outcome was in-hospital mortality. Multivariable regression analyses were used to calculate the adjusted odds ratio with 95% confidence interval for mortality in women and men. Of 81,400 patients with a positive diagnosis for SARS-CoV-2 infection, 28,929 (35.54%) hospitalized patients were evaluated. Of these, 35.41% (10,243) were women. In-hospital death was higher in men than in women. In relation to CVD between the sexes, women had a higher incidence of CVD than men (4.69 vs. 3.93%
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- 2022
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5. Co-design of a Virtual Reality Cognitive Remediation Program for Depression (bWell-D) With Patient End Users and Clinicians: Qualitative Interview Study Among Patients and Clinicians (Preprint)
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Maria Elena Hernandez Hernandez, Erin Michalak, Nusrat Choudhury, Mark Hewko, Ivan Torres, Mahesh Menon, Raymond W Lam, and Trisha Chakrabarty
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BACKGROUND Major depressive disorder (MDD) is the leading cause of global disability; however, the existing treatments do not always address cognitive dysfunction—a core feature of MDD. Immersive virtual reality (VR) has emerged as a promising modality to enhance the real-world effectiveness of cognitive remediation. OBJECTIVE This study aimed to develop the first prototype VR cognitive remediation program for MDD (“bWell-D”). This study gathered qualitative data from end users early in the design process to enhance its efficacy and feasibility in clinical settings. METHODS Semistructured end-user interviews were conducted remotely (n=15 patients and n=12 clinicians), assessing the participants’ perceptions and goals for a VR cognitive remediation program. Video samples of bWell-D were also shared to obtain feedback regarding the program. The interviews were transcribed, coded, and analyzed via thematic analysis. RESULTS End users showed an optimistic outlook toward VR as a treatment modality, and perceived it as a novel approach with the potential of having multiple applications. The participants expressed a need for an engaging VR treatment that included realistic and multisensorial settings and activities, as well as customizable features. Some skepticism regarding its effectiveness was also reported, especially when the real-world applications of the practiced skills were not made explicit, as well as some concerns regarding equipment accessibility. A home-based or hybrid (ie, home and clinic) treatment modality was preferred. CONCLUSIONS Patients and clinicians considered bWell-D interesting, acceptable, and potentially feasible, and provided suggestions to enhance its real-world applicability. The inclusion of end-user feedback is encouraged when developing future VR programs for clinical purposes.
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- 2022
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6. Reduction in Serum Magnesium Levels and Renal Function Are Associated with Increased Mortality in Obese COVID-19 Patients
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Patricia Pulido Perez, Jorge Alberto Póndigo de los Angeles, Alonso Perez Peralta, Eloisa Ramirez Mojica, Enrique Torres Rasgado, Maria Elena Hernandez-Hernandez, and Jose R. Romero
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Nutrition and Dietetics ,Risk Factors ,SARS-CoV-2 ,obesity ,circulating magnesium levels ,glomerular filtration rate ,COVID-19 ,Humans ,Magnesium ,Obesity ,Renal Insufficiency ,Kidney ,Glomerular Filtration Rate ,Retrospective Studies ,Food Science - Abstract
Several studies provide evidence that obesity is a significant risk factor for adverse outcomes in coronavirus disease 2019 (COVID-19). Altered renal function and disturbances in magnesium levels have been reported to play important pathophysiological roles in COVID-19. However, the relationship between obesity, renal function, circulating magnesium levels, and mortality in patients with COVID-19 remains unclear. In this retrospective cohort study, we characterized 390 hospitalized patients with COVID-19 that were categorized according to their body mass index (BMI). Patients were clinically characterized and biochemical parameters, renal function, and electrolyte markers measured upon admission. We found that in patients who died, BMI was associated with reduced estimated glomerular filtration rate (eGFR, Rho: −0.251, p = 0.001) and serum magnesium levels (Rho: −0.308, p < 0.0001). Multiple linear regression analyses showed that death was significantly associated with obesity (p = 0.001). The Cox model for obese patients showed that magnesium levels were associated with increased risk of death (hazard ratio: 0.213, 95% confidence interval: 0.077 to 0.586, p = 0.003). Thus, reduced renal function and lower magnesium levels were associated with increased mortality in obese COVID-19 patients. These results suggest that assessment of kidney function, including magnesium levels, may assist in developing effective treatment strategies to reduce mortality among obese COVID-19 patients.
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- 2022
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7. Disordered Glucose Levels Are Associated with Xanthine Oxidase Activity in Overweight Type 2 Diabetic Women
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Maria Elena Hernandez-Hernandez, Enrique Torres-Rasgado, Patricia Pulido-Perez, Leticia Nicolás-Toledo, Margarita Martínez-Gómez, Jorge Rodríguez-Antolín, Ricardo Pérez-Fuentes, and Jose R. Romero
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Blood Glucose ,Glycated Hemoglobin ,Male ,Xanthine Oxidase ,Organic Chemistry ,General Medicine ,Overweight ,Catalysis ,Computer Science Applications ,Uric Acid ,Inorganic Chemistry ,C-Reactive Protein ,Diabetes Mellitus, Type 2 ,Humans ,Female ,Obesity ,Physical and Theoretical Chemistry ,xanthine oxidase ,overweight ,obese ,type 2 diabetic ,biological sex ,Reactive Oxygen Species ,Molecular Biology ,Purine Nucleotides ,Spectroscopy - Abstract
Oxidative stress plays an important role in vascular complications observed in patients with obesity and Type 2 Diabetes (T2D). Xanthine oxidase (XO) breaks down purine nucleotides into uric acid and contributes to the production of reactive oxygen species (ROS). However, the relationship between XO activity and glucose homeostasis in T2D subjects with obesity is unclear. We hypothesized that disordered glucose levels are associated with serum XO activity in overweight women and men with T2D and without hyperuricemia. We studied serum XO activity in women and men with and without T2D. Our results show that serum XO activity was greater in T2D patients with body mass index (BMI) ≥ 25 kg/m2 than in those with BMI < 25 kg/m2 (p < 0.0001). Sex-based comparative analyses of overweight T2D patients showed that serum XO activity correlated with homeostasis model assessment of β-cell function (HOMA-β), fasting plasma glucose (FPG), and hemoglobin A1C in overweight T2D women but not in overweight T2D men. In addition, as compared to overweight T2D men, women had higher high-sensitivity C-reactive protein (hs-CRP) levels. However, overweight T2D men had higher XO activity and uric acid levels than women. Our results suggest that XO activity is higher in overweight T2D patients, especially in men, but is more sensitive to disordered glucose levels in overweight women with T2D.
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- 2022
8. Renal function, serum magnesium levels and mortality in COVID-19 patients with type 2 diabetes
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Enrique Torres-Rasgado, Maria Elena Hernandez-Hernandez, Jose R. Romero, Patricia Pulido-Perez, and Jorge Alberto Pondigo-de Los Angeles
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Adult ,Male ,medicine.medical_specialty ,Clinical Biochemistry ,Population ,Renal function ,Type 2 diabetes ,Kidney ,Biochemistry ,Gastroenterology ,Internal medicine ,medicine ,Humans ,Diabetic Nephropathies ,Magnesium ,Hospital Mortality ,Renal Insufficiency, Chronic ,education ,Molecular Biology ,Survival analysis ,Aged ,Retrospective Studies ,Aged, 80 and over ,education.field_of_study ,SARS-CoV-2 ,business.industry ,Proportional hazards model ,Case-control study ,COVID-19 ,Kidney metabolism ,Middle Aged ,Prognosis ,medicine.disease ,Survival Analysis ,medicine.anatomical_structure ,Diabetes Mellitus, Type 2 ,Case-Control Studies ,Female ,business ,Biomarkers ,Glomerular Filtration Rate - Abstract
Patients with type 2 diabetes (T2D) and Latin American subjects in particular are at an increased risk of developing severe COVID-19 and mortality. Altered renal function and lower magnesium levels have been reported to play important roles in the pathophysiology of T2D. The aim of the study was to investigate the relationship between renal function, serum magnesium levels and mortality in T2D patients with COVID-19. In this retrospective study, we characterized 118 T2D and non-diabetic subjects hospitalized with COVID-19. Patients were clinically characterized and electrolyte, renal function and inflammatory markers were evaluated. Patients were grouped according to their estimated glomerular filtration rate (eGFR
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- 2021
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9. Histological modifications of the rat prostate following transection of somatic and autonomic nerves
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Rosaura Diaz, Luis I. Garcia, Jose Locia, Milagros Silva, Sara Rodriguez, Cesar A. Perez, Gonzalo E. Aranda-Abreu, Jorge Manzo, Rebeca Toledo, and Maria Elena Hernandez
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nervo pélvico ,nervo hipogástrico ,nervo genitofemural ,nervo escrotal ,pelvic nerve ,hypogastric nerve ,genitofemoral nerve ,scrotal nerve ,Science - Abstract
It is known that hormones influence significantly the prostate tissue. However, we reported that mating induces an increase in androgen receptors, revealing a neural influence on the gland. These data suggested that somatic afferents (scrotal and genitofemoral nerves) and autonomic efferents (pelvic and hypogastric nerves) could regulate the structure of the prostate. Here we assessed the role of these nerves in maintaining the histology of the gland. Hence, afferent or efferent nerves of male rats were transected. Then, the ventral and dorsolateral regions of the prostate were processed for histology. Results showed that afferent transection affects prostate histology. The alveoli area decreased and increased in the ventral and dorsolateral prostate, respectively. The epithelial cell height increased in both regions. Efferent denervation produced dramatic changes in the prostate gland. The tissue lost its configuration, and the epithelium became scattered and almost vanished. Thus, afferent nerves are responsible for spinal processes pertaining to the trophic control of the prostate, activating its autonomic innervation. Hence, our data imply that innervation seems to be synergic with hormones for the healthy maintenance of the prostate. Thus, it is suggested that some prostate pathologies could be due to the failure of the autonomic neural pathways regulating the gland.Sabe-se que os hormônios influenciam significativamente o tecido prostático. Entretanto, nós demonstramos que o acasalamento induz um aumento nos receptores androgênicos, revelando uma influência neural sobre a glândula. Esses dados sugerem que os aferentes somáticos (nervos escrotal e genito-femural) e os eferentes autonômicos (nervos pélvicos e hipo-gástricos) poderiam regular a estrutura da próstata. Neste trabalho, avaliou-se a função destes nervos na manutenção da histologia da glândula. Dessa forma, os nervos aferentes e eferentes de ratos machos foram seccionados As regiões ventral e dorsolateral da próstata foram processadas para histologia. Os resultados mostraram que a transecção aferente afeta a histologia da próstata. A área alveolar diminuiu e aumentou na próstata dorsal e dorsolateral, respectivamente. A altura da célula epitelial aumentou em ambas as regiões. A desenervação eferente produziu alterações dramáticas na glândula prostática. O tecido perdeu a sua configuração e o epitélio tornou-se difuso e quase desapareceu. Assim, os nervos aferentes são responsáveis por processos espinhais que pertencem ao controle trófico da próstata, ativando sua inervação autonômica. Dessa forma, nossos dados sugerem que a inervação parece ser sinérgica com os hormônios para a manutenção saudável da próstata. Assim, sugere-se que algumas patologias prostáticas poderiam ser ocasionadas devido a falhas nas vias neurais autonômicas que regulam esta glândula.
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- 2010
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10. Expanding the clinical phenotype of
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Esko A, Kautto, Kathleen M, Schieffer, Sean, McGrath, Anthony R, Miller, Maria Elena, Hernandez-Gonzalez, Samantha, Choi, Miriam R, Conces, Esteban, Fernandez-Faith, Mai-Lan, Ho, Kristy, Lee, Anna P, Lillis, Gregory D, Pearson, Stephen G, Kaler, Richard K, Wilson, Elaine R, Mardis, Vincent, Magrini, Jeffrey, Leonard, and Catherine E, Cottrell
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Central Nervous System Neoplasms ,Phenotype ,Humans ,Infant ,Neural Tube Defects ,Receptor, Fibroblast Growth Factor, Type 1 ,Signal Transduction - Abstract
Closed spinal dysraphism (SD) is a type of neural tube defect originating during early embryonic development whereby the neural tissue of the spinal defect remains covered by skin, often coinciding with markers of cutaneous stigmata. It is hypothesized that these events are caused by multifactorial processes, including genetic and environmental causes. We present an infant with a unique congenital midline lesion associated with a closed SD. Through comprehensive molecular profiling of the intraspinal lesion and contiguous skin lesion, an internal tandem duplication (ITD) of the kinase domain of the fibroblast growth factor receptor 1 (
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- 2021
11. An Interactive Tool for Visualizing Design Heterogeneity in Clinical Trials.
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Maria-Elena Hernandez, Simona Carini, Margaret-Anne D. Storey, and Ida Sim
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- 2008
12. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly
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Daniel C. Koboldt, Maria Elena Hernandez-Gonzalez, Vincent Magrini, Peter White, Julie Balch Samora, Theresa Mihalic Mosher, Samuel J Franklin, Sean McGrath, Kim L. McBride, Marilena Melas, Ruthann B. Pfau, Richard K. Wilson, Esko A. Kautto, and Mari Mori
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Whole genome sequencing ,Sanger sequencing ,Genetics ,Homeodomain Proteins ,Whole Genome Sequencing ,Genomics ,Biology ,medicine.disease ,Penetrance ,Synpolydactyly ,Pedigree ,symbols.namesake ,HOXD13 ,Polysyndactyly ,symbols ,medicine ,Synpolydactyly-1 ,Humans ,Syndactyly ,Genetics (clinical) ,Retrospective Studies ,Transcription Factors - Abstract
Synpolydactyly 1 (SPD; MIM# 186000), also called syndactyly type II (SDTY2), is a genetic limb malformation characterized by polydactyly with syndactyly involving the webbing of the third and fourth fingers, and the fourth and fifth toes. It is caused by heterozygous alterations in HOXD13 with incomplete penetrance and phenotypic variability. In our study, a five-generation family with an SPD phenotype was enrolled in our Rare Disease Genomics Protocol. A comprehensive examination of three generations using Illumina short-read whole-genome sequencing (WGS) did not identify any causative variants. Subsequent WGS using Pacific Biosciences (PacBio) long-read HiFi Circular Consensus Sequencing (CCS) revealed a heterozygous 27-bp duplication in the polyalanine tract of HOXD13. Sanger sequencing of all available family members confirmed that the variant segregates with affected individuals. Re-analysis of an unrelated family with a similar SPD phenotype uncovered a 21-bp (7-alanine) duplication in the same region of HOXD13. Although ExpansionHunter identified these events in most individuals in a retrospective analysis, low sequence coverage due to high GC content in the HOXD13 polyalanine tract makes detection of these events challenging. Our findings highlight the value of long-read WGS in elucidating the molecular etiology of congenital limb malformation disorders. This article is protected by copyright. All rights reserved.
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- 2021
13. El poeta sin bestia
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Caballero, María Elena Hernández
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- 2000
14. Blastocystis Isolates from Patients with Irritable Bowel Syndrome and from Asymptomatic Carriers Exhibit Similar Parasitological Loads, but Significantly Different Generation Times and Genetic Variability across Multiple Subtypes.
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Gie-Bele Vargas-Sanchez, Mirza Romero-Valdovinos, Celedonio Ramirez-Guerrero, Ines Vargas-Hernandez, Maria Elena Ramirez-Miranda, Joel Martinez-Ocaña, Alicia Valadez, Cecilia Ximenez, Eduardo Lopez-Escamilla, Maria Elena Hernandez-Campos, Guiehdani Villalobos, Fernando Martinez-Hernandez, and Pablo Maravilla
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Medicine ,Science - Abstract
Blastocystis spp is a common intestinal parasite of humans and animals that has been associated to the etiology of irritable bowel syndrome (IBS); however, some studies have not found this association. Furthermore, many biological features of Blastocystis are little known. The objective of present study was to assess the generation times of Blastocystis cultures, from IBS patients and from asymptomatic carriers. A total of 100 isolates were obtained from 50 IBS patients and from 50 asymptomatic carriers. Up to 50 mg of feces from each participant were cultured in Barret's and in Pavlova's media during 48 h. Initial and final parasitological load were measured by microscopy and by quantitative PCR. Amplicons were purified, sequenced and submitted to GenBank; sequences were analysed for genetic diversity and a Bayesian inference allowed identifying genetic subtypes (ST). Generation times for Blastocystis isolates in both media, based on microscopic measures and molecular assays, were calculated. The clinical symptoms of IBS patients and distribution of Blastocystis ST 1, 2 and 3 in both groups was comparable to previous reports. Interestingly, the group of cases showed scarce mean nucleotide diversity (π) as compared to the control group (0.011±0.016 and 0.118±0.177, respectively), whilst high gene flow and small genetic differentiation indexes between different ST were found. Besides, Tajima's D test showed negative values for ST1-ST3. No statistical differences regarding parasitological load between cases and controls in both media, as searched by microscopy and by qPCR, were detected except that parasites grew faster in Barret's than in Pavlova's medium. Interestingly, slow growth of isolates recovered from cases in comparison to those of controls was observed (p
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- 2015
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15. Trasplante de células madres hematopoyética. Tratamiento de neoplasias malignas
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Maria Auxiliadora Cedeño Cevallos, Ramiro Raul Rojas Realpe, Maria Elena Hernandez Almeida, and Alissa Stefanie Godoy Villalva
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Strategy and Management ,Mechanical Engineering ,Metals and Alloys ,Industrial and Manufacturing Engineering - Abstract
El trasplante de celulas hematopoyeticas es la infusion de celulas progenitoras con el objetivo de reestablecer la funcion medular e inmune en pacientes con una variedad de enfermedades malignas hematologicas (leucemia, linfoma, mieloma), enfermedades no malignas adquiridas de la medula osea (aplasia medular), enfermedades geneticas asociadas con una anormal hematopoyesis o alteracion en la funcion medular. Existen dos tipos de trasplantes: autologos (efectuado entre individuos de una misma especie) y alogenico (este tipo de trasplante consiste en obtener celulas progenitoras hematopoyeticas del propio paciente, conservarlas y re infundirlas, despues de administrar dosis de quimioterapia y/o radioterapia ablativa). El trasplante de celulas hematopoyeticas esta indicado en dos situaciones fundamentales: cuando el paciente tiene una enfermedad que afecta la medula osea y es curable por medio de la sustitucion total de esta por otra sana y la segunda en las afecciones en las que la toxicidad medular es un factor limitrofe para un tratamiento intensivo. Entre sus desventajas podemos mencionar la disponibilidad de una sola unidad en cada procedimiento, la posibilidad de transmitir enfermedades congenitas no detectadas por la historia familiar o pruebas de laboratorio o la disparidad del tamano con el receptor. La metodologia usada es descriptiva, con un enfoque documental, es decir, revisar fuentes disponibles en la red, como google academico, con contenido oportuno, actualizado y relevante desde el punto de vista cientifico que enriquezca el analisis del tema planteado en este articulo.
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- 2019
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16. Effect of HRP Upon the Expression and Intracellular Signaling of PRR in Cardiovascular and Renal Systems in Preeclamptic Rats Offspring
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Pedro López-Sánchez, Maria Elena Hernandez-Campos, Lourdes G. Baeza-Perez, and Adriana Arenas‐Garcia
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medicine.medical_specialty ,Endocrinology ,Offspring ,Internal medicine ,Genetics ,medicine ,Biology ,Molecular Biology ,Biochemistry ,Intracellular ,Biotechnology - Published
- 2021
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17. Effect of Prorrenin/Renin Receptor Inhibition upon Immune Cells Signaling and Blood Pressure in An Experimental Model of Hypertension
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Blanca Rubi Velez Godinez, Pedro López-Sánchez, Monica B. Lopez‐Gomez, and Maria Elena Hernandez-Campos
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Immune system ,Blood pressure ,Experimental model ,Chemistry ,Renin–angiotensin system ,Genetics ,Receptor Inhibition ,Pharmacology ,Molecular Biology ,Biochemistry ,Biotechnology - Published
- 2021
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18. Time-Dependent Effects of Individual and Combined Treatments With Nebivolol, Lisinopril, and Valsartan on Blood Pressure and Vascular Reactivity to Angiotensin II and Norepinephrine
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Jazmin Flores-Monroy, Luisa Martínez-Aguilar, Diego Lezama-Martinez, Ignacio Valencia-Hernández, and Maria Elena Hernandez-Campos
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Male ,Blood Pressure ,030204 cardiovascular system & hematology ,Pharmacology ,Nebivolol ,Time ,Norepinephrine (medication) ,03 medical and health sciences ,Norepinephrine ,0302 clinical medicine ,Spontaneously hypertensive rat ,Lisinopril ,Rats, Inbred SHR ,Medicine ,Animals ,Vasoconstrictor Agents ,Pharmacology (medical) ,Rats, Wistar ,Antihypertensive Agents ,030304 developmental biology ,0303 health sciences ,business.industry ,Angiotensin II ,Drug Combinations ,Mean blood pressure ,Blood pressure ,Valsartan ,Hypertension ,cardiovascular system ,Vascular Resistance ,Cardiology and Cardiovascular Medicine ,business ,circulatory and respiratory physiology ,medicine.drug - Abstract
Clinical guidelines suggest the combination of 2 drugs as a strategy to treat hypertension. However, some antihypertensive combinations have been shown to be ineffective. Therefore, it is necessary to determine whether differences exist between the results of monotherapy and combination therapy by temporal monitoring of the responses to angiotensin II and norepinephrine, which are vasoconstrictors involved in the development of hypertension. Thus, the purpose of this work was to determine the vascular reactivity to angiotensin II and norepinephrine in spontaneously hypertensive rat (SHR) aortic rings after treatment with valsartan, lisinopril, nebivolol, nebivolol-lisinopril, and nebivolol-valsartan for different periods of time. In this study, male SHR and Wistar Kyoto normotensive (WKY) rats were divided into 7 groups treated for 1, 2, and 4 weeks: (1) WKY + vehicle, (2) SHR + vehicle; (3) SHR + nebivolol; (4) SHR + lisinopril; (5) SHR + valsartan; (6) SHR + nebivolol-lisinopril; and (7) SHR + nebivolol-valsartan. Blood pressure was measured by the tail-cuff method, and vascular reactivity was determined from the concentration-response curve to angiotensin II and norepinephrine in aortic rings. The results showed that the combined and individual treatments reduced mean blood pressure at all times evaluated. All treatments decreased vascular reactivity to angiotensin II; however, in the case of lisinopril and nebivolol-lisinopril, the effect observed was significant up to 2 weeks. All treatments decreased the reactivity to norepinephrine up to week 4. These results show a time-dependent difference in vascular reactivity between the pharmacological treatments, with nebivolol-valsartan and nebivolol-lisinopril being both effective combinations. Additionally, the results suggest crosstalk between the renin-angiotensin and sympathetic nervous systems to reduce blood pressure and to improve treatment efficacy.
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- 2021
19. Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma
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Alexander Z. Feldman, Jeffrey R. Leonard, Catherine E. Cottrell, Brent A. Orr, Peter White, Ala K. Shaikhkhalil, Amy Wetzel, Rolla Abu-Arja, Vibhuti Agarwal, Jonathan L. Finlay, Diana S Osorio, Richard K. Wilson, Annie I. Drapeau, Christopher R. Pierson, Sean McGrath, Stephanie LaHaye, Daniel C. Koboldt, Katherine E. Miller, Diana P Rodriguez, Matija Snuderl, Patrick J. Brennan, Kathleen M. Schieffer, Esko A. Kautto, Elaine R. Mardis, Maria Elena Hernandez-Gonzalez, Margaret Shatara, Vincent Magrini, Benjamin J. Kelly, Suzanne Conley, Anthony R. Miller, and Daniel R. Boue
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Male ,Oncogene Proteins, Fusion ,Sellar-suprasellar retinoblastoma ,Ubiquitin-Protein Ligases ,DNA array-based methylation ,Case Report ,SMRT sequencing ,Biology ,DNA sequencing ,lcsh:RC346-429 ,Pathology and Forensic Medicine ,Structural variation ,Cellular and Molecular Neuroscience ,Intracranial retinoblastoma ,medicine ,Humans ,Genes, Retinoblastoma ,Exome ,lcsh:Neurology. Diseases of the nervous system ,PacBio ,Pineoblastoma ,Gene Rearrangement ,Retinoblastoma ,Brain Neoplasms ,Retinoblastoma protein ,Infant ,medicine.disease ,eye diseases ,Retinoblastoma Binding Proteins ,Cancer research ,biology.protein ,Neurology (clinical) ,DNA microarray ,RB1 ,Single molecule real time sequencing - Abstract
Retinoblastoma is a childhood cancer of the retina involving germline or somatic alterations of the RB Transcriptional Corepressor 1 gene, RB1. Rare cases of sellar-suprasellar region retinoblastoma without evidence of ocular or pineal tumors have been described. A nine-month-old male presented with a sellar-suprasellar region mass. Histopathology showed an embryonal tumor with focal Flexner-Wintersteiner-like rosettes and loss of retinoblastoma protein (RB1) expression by immunohistochemistry. DNA array-based methylation profiling confidently classified the tumor as pineoblastoma group A/intracranial retinoblastoma. The patient was subsequently enrolled on an institutional translational cancer research protocol and underwent comprehensive molecular profiling, including paired tumor/normal exome and genome sequencing and RNA-sequencing of the tumor. Additionally, Pacific Biosciences (PacBio) Single Molecule Real Time (SMRT) sequencing was performed from comparator normal and disease-involved tissue to resolve complex structural variations. RNA-sequencing revealed multiple fusions clustered within 13q14.1-q21.3, including a novel in-frame fusion of RB1-SIAH3 predicted to prematurely truncate the RB1 protein. SMRT sequencing revealed a complex structural rearrangement spanning 13q14.11-q31.3, including two somatic structural variants within intron 17 of RB1. These events corresponded to the RB1-SIAH3 fusion and a novel RB1 rearrangement expected to correlate with the complete absence of RB1 protein expression. Comprehensive molecular analysis, including DNA array-based methylation profiling and sequencing-based methodologies, were critical for classification and understanding the complex mechanism of RB1 inactivation in this diagnostically challenging tumor.
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- 2021
20. Are we on the same page? A comparison of patients' and clinicians' opinions about the importance of CBT techniques
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Glenn Waller and Maria Elena Hernandez Hernandez
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Adult ,Male ,Psychiatry ,Unconscious mind ,Psychotherapist ,Cognitive Behavioral Therapy ,Therapeutic Alliance ,Mental Disorders ,fungi ,food and beverages ,macromolecular substances ,Anxiety ,Middle Aged ,Clinical Psychology ,Patient Satisfaction ,Surveys and Questionnaires ,medicine ,Humans ,Female ,medicine.symptom ,Psychology - Abstract
Clinicians often omit or underuse several techniques while delivering therapy. These omissions can be due to unconscious factors (e.g., clinician's anxiety), or due to clinicians' deliberate decisions (e.g., modifying therapy believing that such modifications are on the patients' best interests). However, little is known about whether patients consider these modifications necessary. The main aim of this study was to explore the opinions about the important aspects of CBT according to both patients' and clinicians' perspectives. It also aimed to determine whether clinicians' anxiety influenced such preferences. To achieve these aims, two groups of participants were approached-CBT clinicians (n = 83) and CBT patients (n = 167). An online survey with a list of techniques commonly used in CBT was developed for each group, who indicated the importance they attributed to the techniques. Additionally, clinicians completed an anxiety measure. Results indicated that clinicians valued all "change-oriented" techniques and several "interpersonal engagement" techniques more than the patients. The only technique preferred by patients was "relaxation". Higher levels of clinician anxiety were associated with a lower preference for "behavioural experiments" and "exposure". In conclusion, clinicians are encouraged to plan therapy in collaboration with the patient, as well as to discuss the rationale for the implemented techniques.
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- 2021
21. Do patients' mood and gender affect the way we deliver CBT? An experimental, vignette-based study of the relevance of patient and clinician characteristics
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Glenn Waller and Maria Elena Hernandez Hernandez
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Male ,Cognitive Behavioral Therapy ,media_common.quotation_subject ,Emotions ,Experimental and Cognitive Psychology ,Empathy ,Anxiety ,Affect (psychology) ,Observational methods in psychology ,Test (assessment) ,Psychiatry and Mental health ,Clinical Psychology ,Mood ,Arts and Humanities (miscellaneous) ,Vignette ,Relevance (law) ,Humans ,Female ,Self Report ,Big Five personality traits ,Psychology ,Factor Analysis, Statistical ,media_common ,Clinical psychology - Abstract
Background and objectives Clinicians often fail to deliver the best psychological treatments available, especially if they perceive their patients as fragile or vulnerable. This fragility might be interpreted by clinicians through their internalised gender stereotypes (e.g. female patients are less resilient to a demanding treatment) or according to their patients' emotional state (e.g. the patient is too delicate to endure the most stress-inducing aspects of therapy). The aim of this study was to test experimentally whether patients’ characteristics influenced therapy delivery. Some clinician characteristics were also considered. Methods This was an experimental, vignette-based study that evaluated clinicians' likelihood of utilizing several techniques commonly used in CBT by manipulating patients' mood and gender. Clinicians’ personality traits were also included as covariates. Results Anxious patients were the most likely to receive the techniques, especially exposure and other behavioural techniques. Therapists delivered more techniques to male patients, while angry and calm female patients were the least likely to receive the techniques. Therapists were more likely to deliver talking techniques to female patients. Clinicians’ firmness and empathy had an effect on CBT delivery. Limitations Future vignette-based studies should validate and pilot the vignettes. Technique clustering should also be based in factor analysis or similar methods. Direct observational methods might be more reliable than self-report. Conclusion The findings suggest that clinicians treat their patients differently, either consciously or inadvertently. These differences are likely to be related to clinicians’ own concerns and gender stereotypes about their patients.
- Published
- 2020
22. Expanding the Clinical Phenotype of FGFR1 Internal Tandem Duplication
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Esko A Kautto, Kathleen M Schieffer, Sean McGrath, Anthony R Miller, Maria Elena Hernandez Gonzalez, Samantha Choi, Miriam R Conces, Esteban Fernandez-Faith, Mai-Lan Ho, Kristy Lee, Anna P Lillis, Gregory D Pearson, Stephen G Kaler, Richard K Wilson, Elaine R Mardis, Vincent Magrini, Jeffrey Leonard, and Catherine E Cottrell
- Subjects
General Medicine - Abstract
Closed spinal dysraphism (SD) is a type of neural tube defect originating during early embryonic development whereby the neural tissue of the spinal defect remains covered by skin, often coinciding with markers of cutaneous stigmata. It is hypothesized that these events are caused by multifactorial processes, including genetic and environmental causes. We present an infant with a unique congenital midline lesion associated with a closed SD. Through comprehensive molecular profiling of the intraspinal lesion and contiguous skin lesion, an internal tandem duplication (ITD) of the kinase domain of the fibroblast growth factor receptor 1 (FGFR1) gene was found. Absence of this event in the peripheral blood and deviation of a variant allele frequency from a heterozygous state suggests that this event is somatic mosaic in nature. FGFR1 ITD results in constitutive activation of the receptor tyrosine kinase to promote cell growth, differentiation, and survival through RAS/MAPK signaling. Identification of FGFR1 ITD outside of central nervous system tumors is exceedingly rare.
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- 2022
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23. Synchronized tag clouds for exploring semi-structured clinical trial data.
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Maria-Elena Hernandez, Sean M. Falconer, Margaret-Anne D. Storey, Simona Carini, and Ida Sim
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- 2008
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24. Gompertz Equation’s First and Second Derivatives for Kinetics Analysis of Batch Dark Fermentation on Bio-Hydrogen Production
- Author
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Sandro Báez-Pimiento, Vladimir Barrera-Quintero, Maria Elena Hernandez-Rojas, Jose Angel Davila-Gomez, and Pavel Rizo Acosta
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Sustainable Energies ,Hydrogen ,chemistry ,Operation control ,Gompertz function ,Kinetics ,Thermodynamics ,chemistry.chemical_element ,Dark fermentation ,Hydrogen production ,Second derivative ,Mathematics - Abstract
Based on results of different works carried out under the project of hydrogen and sustainable energies of the Department of Energy and the perspective shown by Bergues et al [6], concerning the presentation and interpretation of results obtained by Aleman [21], Sandoval and Yanez [10] and Morales and Argueta [22]; it is established a rigorous method for the analysis of the results obtained using as a model the Gompertz equation, and its first and second derivatives as indicators, that focuses on dark fermentation bio-hydrogen production, from the perspective of the conversion of the product –i.e., not of reagents–, for purposes of its maximization and operation control.
- Published
- 2017
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25. The efficacy of mercurius solubilis, a homeopathic medication, for the treatment of periodontal disease
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ME Monterde-Coronel, Pedro López-Sánchez, Maria Elena Hernandez-Campos, J Asbun-Bojalil, and JL Aguilar-Faisal
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medicine.medical_specialty ,Pediatrics ,Periodontal disease ,business.industry ,Internal medicine ,Materials Chemistry ,Alternative medicine ,medicine ,Mercurius Solubilis ,business - Published
- 2017
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26. Cultural adaptations of cognitive behavioural therapy for Latin American patients: unexpected findings from a systematic review
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Gillian E. Hardy, Maria Elena Hernandez Hernandez, and Glenn Waller
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050103 clinical psychology ,Latin Americans ,05 social sciences ,Psychological intervention ,Ethnic group ,Experimental and Cognitive Psychology ,Cognition ,Intervention effect ,Patient retention ,050106 general psychology & cognitive sciences ,Clinical Psychology ,Empirical research ,0501 psychology and cognitive sciences ,Psychology ,Methodological quality ,Clinical psychology - Abstract
The current literature extensively recommends making cultural adaptations to psychological therapies, in order to address the differences in values, beliefs and attitudes that patients from different ethnic groups might hold. Although this approach has shown positive outcomes in some settings, it is not well established yet whether such adaptations are needed for all therapies and in all cultures. Therefore, the main aim of this study was to systematically review the literature regarding culturally adapted and ‘conventional’ cognitive behavioural therapy (CBT) for Latin American patients, within Latin American and non-Latin American countries. Sixty empirical studies regarding the effectiveness of culturally adapted and conventional CBT were included in this review. The included studies were carried out in Latin American and non-Latin American countries. The information from all studies was synthesized and assessed, including intervention effect sizes, patient retention rates, methodological quality of the papers, and the type of cultural adaptation made to the therapy. There were no differences between the sets of studies in terms of effectiveness, retention rates, methodological quality, or proportion of statistically significant interventions. Most of the cultural adaptations were peripheral or unspecified. The evidence to date indicates that both conventional and culturally adapted CBT offer the same benefits for Latin American patients in terms of effectiveness and retention rates. Rather than focusing on cultural adaptations, clinicians are encouraged to improve the way they deliver CBT through training and supervision.Key learning aims(1)Cultural adaptations of CBT do not seem to offer any significant benefits to conventional, non-adapted CBT in Latin American patients.(2)Most of the adaptations made to CBT for Latin American patients are either peripheral or not disclosed.(3)We discuss the implications of adapting CBT for Latin American patients when there is no apparent need to do so.
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- 2020
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27. Expanding the phenotypic spectrum of internal tandem duplications in somatic disease
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Samantha Choi, Daniel C. Koboldt, Aimee Jalkanen, Selene C. Koo, Eileen Stonerock, Gregory D. Pearson, Vincent Magrini, Jeffrey R. Leonard, Stephen G. Kaler, Kristen M. Leraas, James Fitch, Sarah Savage, Stephanie LaHaye, Richard K. Wilson, Bonita Fung, Esteban Fernandez Faith, Kristy Lee, Catherine E. Cottrell, Peter White, Elaine R. Mardis, Maria Elena Hernandez-Gonzalez, Amal Shukri, Anthony J. Miller, Benjamin J. Kelly, Sean McGrath, Kathleen M. Schieffer, Miriam R Conces, and Christopher R. Pierson
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Genetics ,Endocrinology ,Tandem ,Somatic cell ,Endocrinology, Diabetes and Metabolism ,Disease ,Biology ,Molecular Biology ,Biochemistry ,Phenotype - Published
- 2021
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28. Preeclampsia as predisposing factor for hypertensive retinopathy: Participation by the RAAS and angiogenic factors
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Pedro López-Sánchez, Liliana Anguiano-Robledo, Claudia Ramirez-Montero, Maria Elena Hernandez-Campos, and Virgilio Lima-Gómez
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medicine.medical_specialty ,Vascular permeability ,Hypertensive Retinopathy ,Retina ,Preeclampsia ,Capillary Permeability ,Renin-Angiotensin System ,Cellular and Molecular Neuroscience ,chemistry.chemical_compound ,PEDF ,Pre-Eclampsia ,Hypertensive retinopathy ,Pregnancy ,Internal medicine ,medicine ,Animals ,Rats, Wistar ,Angiotensin II receptor type 1 ,business.industry ,Retinal Vessels ,medicine.disease ,Angiotensin II ,Sensory Systems ,Rats ,Vascular endothelial growth factor ,Disease Models, Animal ,Ophthalmology ,Endocrinology ,chemistry ,Pregnancy, Animal ,Angiogenesis Inducing Agents ,Female ,business ,Retinopathy - Abstract
Preeclampsia (PE) is a hypertensive complication of pregnancy. Its cause is still unknown and it could be a risk factor for future ophthalmic problems. Retinal vascular bed alterations have been described as a consequence of PE, suggesting a retinopathy. Factors related to angiogenesis and vascular permeability, such as vascular endothelial growth factor (VEGF) and pigment epithelium derived factor (PEDF) or components of the renin angiotensin aldosterone system (RAAS), prorrenin/renin receptor ((P)RR) and angiotensin II type I receptor (AT1R) have been located in the retina, participating in other retinopathies, but it is unknown if they could participate in PE. Our aim was to elucidate whether VEGF, PEDF, (P)RR and AT1R could be modified during PE and during hypertension induced in rats with a history of PE. We used female Wistar rats and subrrenal aortic coarctation to induce PE, and after delivery, we induced a second hit by Nω-nitro-L-arginine methyl ester (L-NAME) administration. We measured blood pressure, proteinuria and pups development. In both models, eye fundal exploration and immunoblot for VEGF, PEDF, (P)RR and AT1R were performed. We found that the development of hypertension occurred faster in previously PE rats than in normal animals. VEGF, PEDF, (P)RR and AT1R were increased in PE, but in L-NAME-induced hypertension only (P)RR and AT1R were altered. Eye fundal data indicated that PE induced a level I retinopathy, but L-NAME induced a faster and more severe retinopathy in previously PE animals compared to previously normal pregnancy rats. These results indicate that PE predisposes to development of a faster and more severe retinopathy after a second hit. They also suggest that VEGF and PEDF seem to participate only in PE retinopathy, but in both models, RAAS components seem to have a more critical participation.
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- 2020
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29. Combined Antihypertensive Therapies That Increase Expression of Cardioprotective Biomarkers Associated With the Renin-Angiotensin and Kallikrein-Kinin Systems
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Ignacio Valencia-Hernández, Maria Elena Hernandez-Campos, Diego Lezama-Martinez, Jazmin Flores-Monroy, Luisa Martínez-Aguilar, and Salvador Fonseca-Coronado
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0301 basic medicine ,Male ,Captopril ,Receptor, Bradykinin B2 ,Kallikrein-Kinin System ,Adrenergic beta-Antagonists ,Vasodilation ,Angiotensin-Converting Enzyme Inhibitors ,Aorta, Thoracic ,Blood Pressure ,Propranolol ,030204 cardiovascular system & hematology ,Pharmacology ,Receptor, Bradykinin B1 ,Rats, Inbred WKY ,Receptor, Angiotensin, Type 2 ,Losartan ,Receptor, Angiotensin, Type 1 ,Renin-Angiotensin System ,03 medical and health sciences ,0302 clinical medicine ,Rats, Inbred SHR ,Renin–angiotensin system ,Medicine ,Animals ,RNA, Messenger ,Receptor ,Antihypertensive Agents ,Regulation of gene expression ,Angiotensin II receptor type 1 ,business.industry ,Disease Models, Animal ,030104 developmental biology ,Gene Expression Regulation ,Hypertension ,Cardiology and Cardiovascular Medicine ,business ,Angiotensin II Type 1 Receptor Blockers ,hormones, hormone substitutes, and hormone antagonists ,circulatory and respiratory physiology ,medicine.drug - Abstract
Antihypertensive pharmacological treatments focus on the use of angiotensin-converting enzyme (ACE) inhibitors, AT1 receptor antagonists, and beta-blockers as single and combined treatments. The effect of single treatments on the mRNA expression of some components of the renin-angiotensin system has been studied, but not the effect of combined treatments. This study determined the expression of the AT1, AT2, B1, and B2 receptors and of the enzymes ACE and ACE2 in hypertensive rats treated with captopril-propranolol or losartan-propranolol. Methods: The mRNA expression of the receptors and enzymes was determined by reverse transcription-quantitative polymerase chain reaction in the aorta of spontaneously hypertensive rats under different treatments. Results: Rats under combined treatments showed a decrease in the expression of AT1 and ACE, and an increase in the expression of the B1 receptor (captopril + propranolol group: 0.43 ± 0.046, 2.243 ± 0.269, 3.356 ± 0.418; Group: losartan + propranolol: 0.727 ± 0.071, 0.852 ± 0.102, 1.277 ± 0.131 compared to the spontaneously hypertensive group: 1 ± 0.212, 1 ± 0.192, 1 ± 0.214). This decrease in the expression of ACE and AT1 suggests a reduction in the expression of Ang II that could be related to a lower response to this vasoconstrictor. An increase in the expression of B1 would improve vasodilation, which would be a beneficial effect of combined therapies for hypertension.
- Published
- 2018
30. Alternatives to Animal Experimentation: Its Institutional Teaching and Scientific
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Claudia C. Calzada-Mendoza, Liliana Anguiano-Robledo, CornelioBarrientos-Alvarado, and Maria Elena Hernandez-Campos
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Computer science ,Engineering ethics - Published
- 2018
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31. Ultrastructural characterization of craniopharyngioma at the tumor boundary: A structural comparison with an experimental toxic model using 'oil machinery' fluid, with emphasis on Rosenthal fibers
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Maria Elena Hernandez-Campos, Martha Lilia Tena-Suck, Abel Santamaría, Alma Ortiz-Plata, Andrea Yosajany Morales del Angel, Francisca Fernández-Valverde, and Alma Delia Hernandez
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Adult ,Male ,Pathology ,medicine.medical_specialty ,Histology ,Adolescent ,Inflammation ,Vimentin ,Pituitary neoplasm ,Extracellular matrix ,Craniopharyngioma ,medicine ,Animals ,Humans ,Pituitary Neoplasms ,Cyst ,Rats, Wistar ,Aged ,Glial fibrillary acidic protein ,biology ,Cyst Fluid ,Cell Biology ,General Medicine ,Middle Aged ,medicine.disease ,biology.protein ,Ultrastructure ,Immunohistochemistry ,Female ,medicine.symptom - Abstract
Craniopharyngiomas (CPs) are cystic, encapsulated, slow-growing epithelial tumors. CPs can be aggressive forms invading and resorting surrounding structures of adjacent brain tissue, where Rosenthal fibers (RFs) are expressed. The aim of this study was to investigate the ultrastructure of these fibers in human biopsies and compare it with an experimental toxic model produced by the cortical infusion of the oil cyst fluid ("Oil machinery" fluid or OMF) from CPs to rats. For this purpose, the CPs from ten patients were examined by light and electron microscopy. OMF was administered to rats intracortically. Immunohistochemical detection of glial fibrillary acidic protein (GFAP) and vimentin was assessed. In both freshly obtained CPs and rat brain tissue, the presence of abundant cellular debris, lipid-laden macrophages, reactive gliosis, inflammation and extracellular matrix destruction were seen. Ultrastructural results suggest focal pathological disturbances and an altered microenvironment surrounding the tumor-brain junction, with an enhanced presence of RFs in human tumors. In contrast, in the rat brain different degrees of cellular disorganization with aberrant filament-filament interactions and protein aggregation were seen, although RFs were absent. Our immunohistochemical findings in CPs also revealed an enhanced expression of GFAP and vimentin in RFs at the peripheral, but not at the central (body) level. Through these findings we hypothesize that the continuous OMF release at the CPs boundary may cause tissue alterations, including damaging of the extracellular matrix, and possibly contributing to RFs formation, a condition that was not possible to reproduce in the experimental model. The presence of RFs at the CPs boundary might be considered as a major criterion for the degree of CPs invasiveness to normal tissue. The lack of RFs reactivity in the experimental model reveals that the invasive component of CPs is not present in the OMF, although the fluid per se can exert tissue damage.
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- 2015
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32. Experimental animal models of central nervous system tuberculosis: A historical review
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Carlos Sánchez-Garibay, Citlaltepetl Salinas-Lara, Martha Lilia Tena-Suck, and Maria Elena Hernandez-Campos
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0301 basic medicine ,Microbiology (medical) ,medicine.medical_specialty ,Tuberculosis ,030106 microbiology ,Immunology ,Central nervous system ,Antitubercular Agents ,Autopsy ,Disease ,Microbiology ,03 medical and health sciences ,Immunopathology ,medicine ,Animals ,Intensive care medicine ,Tuberculosis Vaccines ,business.industry ,Experimental Animal Models ,Tuberculosis, Central Nervous System ,Medical research ,medicine.disease ,Vaccination ,Disease Models, Animal ,030104 developmental biology ,Infectious Diseases ,medicine.anatomical_structure ,business - Abstract
Animal models are and will remain valuable tools in medical research because their use enables a deeper understanding of disease development, thus generating important knowledge for developing disease control strategies. Central nervous system tuberculosis (CNS TB) is the most devastating disease in humans. Moreover, as the variability of signs and symptoms delay a timely diagnosis, patients usually arrive at the hospital suffering from late stage disease. Therefore, it is impossible to obtain fresh human tissue for research before an autopsy. Because of these reasons, studies on human CNS TB are limited to case series, pharmacological response reports, and post mortem histopathological studies. Here, we review the contribution of the different animal models to understand the immunopathology of the disease and the host-parasitic relationship, as well as in the development of new strategies of vaccination and to test new drugs for the treatment of CNS TB.
- Published
- 2017
33. Quadratic Non-Linear Optical Properties of the poly(2,5-bis(but-2-ynyloxy) Benzoate Containing the 2-(ethyl(4-((4-nitrophenyl)buta-1,3-diynyl)phenyl)amino)ethanol) Chromophore
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Armando Domínguez-Ortiz, Marco A Almaraz-Girón, Maria Elena Hernandez-Rojas, Sandro Báez-Pimiento, Sandra L. Castañón-Alonso, Alejandro Islas-Jácome, Adolfo Romero-Galarza, Omar G. Morales-Saavedra, Luz M. Rocha-Ramírez, and Marcos Esparza-Schulz
- Subjects
chemistry.chemical_classification ,Materials science ,Ethanol ,Polymers and Plastics ,Diacetylene ,business.industry ,organic films ,Second-harmonic generation ,Nonlinear optics ,General Chemistry ,Polymer ,push-pull polymers ,Chromophore ,Article ,non-linear optics ,lcsh:QD241-441 ,chemistry.chemical_compound ,optical materials ,lcsh:Organic chemistry ,chemistry ,Polar ,Physical chemistry ,Photonics ,business ,diacetylenes - Abstract
Excellent quadratic non-linear optical (ONL-2) properties of the poly(2,5-bis(but-2-ynyloxy) benzoate, containing a polar diacetylene as a chromophore, were found. According with the Maker fringes method, oriented polymer films showing an order parameter of &sim, 0.23 can display outstanding and stable Second Harmonic Generation (SHG) effects under off-resonant conditions (SHG-532 nm). Also, the macroscopic non-linear optical (NLO)-coefficients were evaluated under the rod-like molecular approximation, obtaining: &chi, zzz(2) and &chi, zxx(2) in the order of 280 ±, 10 and 100 ±, 10 pm V&minus, 1, respectively. The mechanical and chemical properties, in addition to the large ONL-2 coefficients exhibited by this polymer, make it a promising organic material in the development of optoelectronic/photonic devices.
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- 2020
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34. Comparative Effects of a Novel Angiotensin-Converting Enzyme Inhibitor versus Captopril on Plasma Angiotensins after Myocardial Infarction
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Luisa Martínez-Aguilar, Jazmin Flores-Monroy, Ignacio Valencia-Hernández, Carlos M. Ferrario, and Maria Elena Hernandez-Campos
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Male ,medicine.medical_specialty ,Angiotensins ,Captopril ,Morpholines ,Myocardial Infarction ,Bradykinin ,Angiotensin-Converting Enzyme Inhibitors ,Blood Pressure ,Peptidyl-Dipeptidase A ,Renin-Angiotensin System ,chemistry.chemical_compound ,Phenols ,Internal medicine ,Renin–angiotensin system ,medicine ,Animals ,Myocardial infarction ,Rats, Wistar ,Pharmacology ,Angiotensin II receptor type 1 ,biology ,Angiotensin-converting enzyme ,General Medicine ,medicine.disease ,Angiotensin II ,Rats ,Disease Models, Animal ,Blood pressure ,Endocrinology ,chemistry ,biology.protein ,hormones, hormone substitutes, and hormone antagonists ,medicine.drug - Abstract
The compound 4-tert-butyl-2,6-bis(thiomorpholin-4-ylmethyl)phenol (TBTIF) has molecular characteristics similar to angiotensin-converting enzyme (ACE) inhibitors of the sulfhydryl subclass. To assess its value as a new therapeutic agent, we performed a comparative analysis of the effect of TBTIF versus captopril on the circulating levels of angiotensin (Ang) peptides and bradykinin as well as ACE and ACE2 expression after myocardial infarction. Male Wistar rats were divided into four groups: (1) sham-operated rats; (2) rats subjected to 48 h of coronary artery ligation; (3) rats administered captopril (1 mg/kg, i.m.), and (4) a similar group of rats given TBTIF (1 mg/kg, i.m.). Both drugs were administered 30 min before coronary artery ligation and again 24 h later. Acute myocardial infarction lowered both systolic and left ventricular systolic blood pressures compared to the sham group and increased plasma levels of Ang I, Ang II, Ang(1-7) and Ang(1-12). Administration of either captopril or TBTIF reversed the increases in plasma angiotensins. Interestingly, the levels of plasma Ang(1-7) achieved by administration of TBTIF reached values higher than those recorded with captopril. Both agents reversed the decreases in plasma concentrations of bradykinin; in addition, TBTIF upregulated ACE expression, while both agents suppressed the ACE2 upregulation induced by myocardial infarction. These results demonstrate a beneficial effect of the novel compound TBTIF in suppressing the acute surge in the circulating renin-angiotensin system activity induced by myocardial infarction. The greater effects of this compound in augmenting plasma Ang(1-7) concentrations may be highly significant as drugs which augment the concentration of this heptapeptide will exert cardioprotective actions in part by suppressing the hypertrophic and profibrotic actions of Ang II.
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- 2014
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35. Therapists' self-reported drift from dialectical behavior therapy techniques for eating disorders
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Maria Elena Hernandez Hernandez, Glenn Waller, and Lucene Wisniewski
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Adult ,Male ,050103 clinical psychology ,Psychotherapist ,media_common.quotation_subject ,medicine.medical_treatment ,Health Personnel ,Feeding and Eating Disorders ,03 medical and health sciences ,0302 clinical medicine ,Behavior Therapy ,medicine ,Personality ,Humans ,0501 psychology and cognitive sciences ,media_common ,Aged ,05 social sciences ,Middle Aged ,medicine.disease ,Dialectical behavior therapy ,030227 psychiatry ,Psychiatry and Mental health ,Clinical Psychology ,Eating disorders ,Health Care Surveys ,Female ,Self Report ,Psychology - Abstract
Objective Research has shown that clinicians underuse or omit techniques that constitute an essential part of evidence-based therapies. However, it is not known whether this is the case in DBT for eating disorders. The aims of this study were; 1) exploring the extent to which DBT techniques were used by self-identified DBT clinicians treating eating disorders; 2) determining whether therapists fell into distinct groups, based on their usage of DBT techniques; and 3) examining whether clinician characteristics were related to the use of such techniques. Method Seventy-three clinicians offering DBT for eating disorders completed an online survey about their use of specific DBT techniques. They also completed measures of personality and intolerance of uncertainty. Results In relation to the first aim, the pattern of use of DBT techniques showed a bimodal distribution — most were used either a lot or a little. Considering the second aim, clinicians fell into two groups according to the techniques that they delivered — one characterized by a higher use of DBT techniques and the other by a higher use of techniques that were specific to the treatment of eating disorders, rather than DBT methods. Finally, more experienced clinicians were more likely to be in the ‘DBT technique-focused’ group. Discussion DBT clinicians are encouraged to implement both sets of techniques (DBT techniques and standard techniques for the treatment of eating disorders) in an integrated way. Training, supervision and the use of manuals are recommended to decrease therapist drift in DBT.
- Published
- 2017
36. Nitric oxide synthase in Entamoeba histolytica: its effect on rat aortic rings
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Ignacio Valencia-Hernández, Rafael Campos-Rodríguez, C. Castillo-Henkel, Ethel García-Latorre, Maria Elena Hernandez-Campos, Víctor Tsutsumi, and Mineko Shibayama
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Male ,Blotting, Western ,Immunology ,Aorta, Thoracic ,Biology ,Arginine ,Nitric Oxide ,Guanidines ,Nitric oxide ,Photometry ,chemistry.chemical_compound ,Entamoeba histolytica ,Cytosol ,Biosynthesis ,Animals ,Enzyme Inhibitors ,Rats, Wistar ,chemistry.chemical_classification ,Gel electrophoresis ,Histocytochemistry ,Cell Membrane ,NADPH Dehydrogenase ,General Medicine ,biology.organism_classification ,Rats ,Methylene Blue ,Nitric oxide synthase ,Blot ,NG-Nitroarginine Methyl Ester ,Infectious Diseases ,Enzyme ,chemistry ,Biochemistry ,biology.protein ,Biological Assay ,Parasitology ,Rabbits ,Nitric Oxide Synthase ,Methylene blue - Abstract
NADPH-diaphorase activity has been considered as a nitric oxide synthase (NOS) marker. Therefore, the presence of NADPH-d activity in Entamoeba histolytica suggests that they have NOS activity. The aim of this work was to provide support for this contention. The amebic culture medium or amebic purified proteins induced relaxation of endothelium-denuded rat aortic rings pre-contracted with phenylephrine (10(-6) M), which was inhibited when the amebas were incubated with NG-monomethyl-L-arginine or aminoguanidine (NOS inhibitors), or by pretreatment of the aortic rings with methylene blue. L-Arginine reverted the L-NAME inhibitory effect. In addition, trophozoites produce NO in culture and they have proteins which were recognized by antibodies specific to NOS and show activity of NO synthase. In conclusion, our results provide evidence about the production of NO by trophozoites. This molecule may be responsible for the relaxation elicited by the amebic culture medium and may participate in the pathogenesis of the invasive amebiasis. Index Descriptors and Abbreviations: Entamoeba histolytica; NO, nitric oxide; NOS, nitric oxide synthase; iNOS, inducible nitric oxide synthase; ecNOS, endothelial nitric oxide synthase; NADPH-d, NADPH-diaphorase enzyme; beta-NADPH, beta-nicotinamide-adenine dinucleotide; L-NAME, N-omega-nitro-L-arginine methyl ester hydrochloride; NBT, nitobluetetrazolium; PBS, phosphate-buffered saline; EDTA, ethylenediaminetetraacetic acid; SDS-PAGE, sodium dodecyl sulfate-polyacrylamide gel electrophoresis
- Published
- 2003
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37. Prorrenin/renin receptor expression in the solitary tract nucleus in a 5/6 nephrectomy-induced hypertension model in rats
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Ana V. Vega, Gabriela Arteaga-Bravo, Yumei Feng, Maria Elena Hernandez-Campos, and Pedro López-Sánchez
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medicine.medical_specialty ,Endocrinology ,business.industry ,Applied Mathematics ,General Mathematics ,Receptor expression ,medicine.medical_treatment ,Internal medicine ,Renin–angiotensin system ,Medicine ,business ,Solitary tract nucleus ,Nephrectomy - Published
- 2018
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38. Prorrenin/renin receptor expression in immune cells in an ovariectomized rats model
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Octavio Rodríguez-Cortés, Maria Elena Hernandez-Campos, Nestor A Torres-Frayre, and Pedro López-Sánchez
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medicine.medical_specialty ,Endocrinology ,Immune system ,Chemistry ,Applied Mathematics ,General Mathematics ,Internal medicine ,Receptor expression ,Renin–angiotensin system ,medicine ,Ovariectomized rat - Published
- 2018
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39. HORMONAL REPLACEMENT THERAPY MODULATES THE EXPRESSION OF Nrf2 AND THE ACTIVITY OF ANTIOXIDANT ENZYMES IN VASCULAR ORGANS IN A MODEL OF OVARIECTOMY
- Author
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Maria Elena Hernandez-Campos, Lourdes G. Baeza-Perez, Claudia C. Calzada-Mendoza, Pedro López-Sánchez, and Liliana Anguiano-Robledo
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chemistry.chemical_classification ,medicine.medical_specialty ,Antioxidant ,business.industry ,Applied Mathematics ,General Mathematics ,medicine.medical_treatment ,Hormonal replacement therapy ,Enzyme ,Endocrinology ,chemistry ,Internal medicine ,medicine ,business - Published
- 2018
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40. Determination of prorenin/renin receptor expression on immune cells in an experimental model of preeclampsia in rats
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Liliana Anguiano-Robledo, Erika Sanchez-Guerrero, Maria Elena Hernandez-Campos, Pedro López-Sánchez, and Octavio Rodríguez-Cortés
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medicine.medical_specialty ,Chemistry ,Experimental model ,Receptor expression ,medicine.disease ,Biochemistry ,Preeclampsia ,Endocrinology ,Immune system ,Internal medicine ,Renin–angiotensin system ,Genetics ,medicine ,Molecular Biology ,Biotechnology - Published
- 2012
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41. Analysis of expressed sequence tags generated from full-length enriched cDNA libraries of melon
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Tarek Joobeur, Ana I. Caño-Delgado, Mingyun Huang, James J. Giovannoni, Christian Clepet, Maria Elena Hernandez-Gonzalez, Vitaly Portnoy, Abdelhafid Bendahmane, Adnane Boualem, Ramon Dolcet-Sanjuan, Verónica Truniger, Jordi Garcia-Mas, Miguel A. Aranda, Yi Zheng, Zhangjun Fei, Nurit Katzir, Albert Mascarell-Creus, Delphine Jublot, Laboratoire ASL, De Ruiter, Enza Zaden, Gautier Semences, Nunhems, Rijk Zwaan, Sakata Seed, Semillas Fitó, Seminis, Syngenta, Takii Seed, Vilmorin, Zeraim Ibérica, Centre National de la Recherche Scientifique (France), Unité de recherche en génomique végétale (URGV), Institut National de la Recherche Agronomique (INRA)-Université d'Évry-Val-d'Essonne (UEVE)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Recherche Agronomique (INRA), Institut des sciences du végétal (ISV), and Centre National de la Recherche Scientifique (CNRS)
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0106 biological sciences ,MESH: Genome, Plant ,MESH: Sequence Analysis, DNA ,Melon ,MESH: Quality Control ,ETHYLENE BIOSYNTHESIS ,MESH: Genetic Markers ,01 natural sciences ,Genome ,Cucumis melo ,MESH: Cucumis melo ,MESH: Organ Specificity ,Expressed Sequence Tags ,2. Zero hunger ,Genetics ,CUCUMIS-MELO ,GENOME SEQUENCE ,ARABIDOPSIS-THALIANA ,FUNCTIONAL GENOMICS ,SEX EXPRESSION ,DRAFT GENOME ,PHYSICAL MAP ,FRUIT ,IDENTIFICATION ,0303 health sciences ,Expressed sequence tag ,biology ,MESH: Genomics ,food and beverages ,Genomics ,humanities ,3. Good health ,[SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology ,Organ Specificity ,DNA microarray ,Cucumis ,Genome, Plant ,Research Article ,Biotechnology ,Genetic Markers ,Quality Control ,lcsh:QH426-470 ,lcsh:Biotechnology ,MESH: Expressed Sequence Tags ,03 medical and health sciences ,MESH: Gene Expression Profiling ,lcsh:TP248.13-248.65 ,Complementary DNA ,MESH: Gene Library ,Gene family ,Gene Library ,030304 developmental biology ,cDNA library ,Gene Expression Profiling ,Sequence Analysis, DNA ,légume ,biology.organism_classification ,lcsh:Genetics ,010606 plant biology & botany - Abstract
Background Melon (Cucumis melo), an economically important vegetable crop, belongs to the Cucurbitaceae family which includes several other important crops such as watermelon, cucumber, and pumpkin. It has served as a model system for sex determination and vascular biology studies. However, genomic resources currently available for melon are limited. Result We constructed eleven full-length enriched and four standard cDNA libraries from fruits, flowers, leaves, roots, cotyledons, and calluses of four different melon genotypes, and generated 71,577 and 22,179 ESTs from full-length enriched and standard cDNA libraries, respectively. These ESTs, together with ~35,000 ESTs available in public domains, were assembled into 24,444 unigenes, which were extensively annotated by comparing their sequences to different protein and functional domain databases, assigning them Gene Ontology (GO) terms, and mapping them onto metabolic pathways. Comparative analysis of melon unigenes and other plant genomes revealed that 75% to 85% of melon unigenes had homologs in other dicot plants, while approximately 70% had homologs in monocot plants. The analysis also identified 6,972 gene families that were conserved across dicot and monocot plants, and 181, 1,192, and 220 gene families specific to fleshy fruit-bearing plants, the Cucurbitaceae family, and melon, respectively. Digital expression analysis identified a total of 175 tissue-specific genes, which provides a valuable gene sequence resource for future genomics and functional studies. Furthermore, we identified 4,068 simple sequence repeats (SSRs) and 3,073 single nucleotide polymorphisms (SNPs) in the melon EST collection. Finally, we obtained a total of 1,382 melon full-length transcripts through the analysis of full-length enriched cDNA clones that were sequenced from both ends. Analysis of these full-length transcripts indicated that sizes of melon 5' and 3' UTRs were similar to those of tomato, but longer than many other dicot plants. Codon usages of melon full-length transcripts were largely similar to those of Arabidopsis coding sequences. Conclusion The collection of melon ESTs generated from full-length enriched and standard cDNA libraries is expected to play significant roles in annotating the melon genome. The ESTs and associated analysis results will be useful resources for gene discovery, functional analysis, marker-assisted breeding of melon and closely related species, comparative genomic studies and for gaining insights into gene expression patterns., This work was supported by Research Grant Award No. IS-4223-09C from BARD, the United States-Israel Binational Agricultural Research and Development Fund, and by SNC Laboratoire ASL, de Ruiter Seeds B.V., Enza Zaden B.V., Gautier Semences S.A., Nunhems B.V., Rijk Zwaan B.V., Sakata Seed Inc, Semillas Fitó S.A., Seminis Vegetable Seeds Inc, Syngenta Seeds B.V., Takii and Company Ltd, Vilmorin and Cie S.A. and Zeraim Gedera Ltd (all of them as part of the support to ICuGI). CC was supported by CNRS ERL 8196.
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- 2011
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42. Thermodynamics of aqueous mixtures of 2-(2-Hexyloxyethoxy)ethanol at 5�C
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Gérard Douhéret, Michael I. Davis, Einar Høgseth, Harald Høiland, Alain Roux, and Maria Elena Hernandez
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Molar ,Ethanol ,Aqueous solution ,Isentropic process ,Biophysics ,Thermodynamics ,Mole fraction ,Biochemistry ,Micelle ,chemistry.chemical_compound ,Molar volume ,chemistry ,Amphiphile ,Physical and Theoretical Chemistry ,Molecular Biology - Abstract
The densities and the ultrasonic speeds of the aqueous solutions of 2-(2-hexyloxyethoxy)ethanol (C6E2) were measured over the entire range of mole fractions at 5°C. Excess molar volumes V E were readily calculated from the densities. The densities, in combination with the ultrasonic speeds, furnish estimates of the molar (and excess molar) isentropic compressibilities K S and the deviations u D of the ultrasonic speeds from the values calculated for ideal mixtures. Radical changes in the mole fraction derivatives of the excess molar properties of the (C6E2 + water) system, in the vicinity of an amphiphile mole fraction of 0.003, indicate that C6E2 like C6E3 is capable of micelle formation. Our data have been compared with those reported earlier for (C4E2 +, C2E2 +, and C6E3 + water). We have employed both mass action and pseudophase approaches to data analysis, together with the four-segment model approach.
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- 1993
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43. Generation times data in Blastocystis by qPCR and by microscopy
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Pablo Maravilla, Gie-Bele Vargas, Mirza Romero-Valdovinos, Celedonio Ramirez-Guerrero, Ines Vargas-Hernandez, Maria Elena Ramirez-Miranda, Joel Martinez-Ocaña, Alicia Valadez, Cecilia Ximenez, Eduardo Lopez-Escamilla, Maria Elena Hernandez-Campos, Guiehdani Villalobos, Fernando Martinez-Hernandez, Pablo Maravilla, Gie-Bele Vargas, Mirza Romero-Valdovinos, Celedonio Ramirez-Guerrero, Ines Vargas-Hernandez, Maria Elena Ramirez-Miranda, Joel Martinez-Ocaña, Alicia Valadez, Cecilia Ximenez, Eduardo Lopez-Escamilla, Maria Elena Hernandez-Campos, Guiehdani Villalobos, and Fernando Martinez-Hernandez
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- 2015
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44. Blastocystis Isolates from Patients with Irritable Bowel Syndrome and from Asymptomatic Carriers Exhibit Similar Parasitological Loads, but Significantly Different Generation Times and Genetic Variability across Multiple Subtypes
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Celedonio Ramirez-Guerrero, Cecilia Ximénez, Guiehdani Villalobos, Maria Elena Hernandez-Campos, Eduardo Lopez-Escamilla, Joel Martinez-Ocaña, Pablo Maravilla, Ines Vargas-Hernandez, Mirza Romero-Valdovinos, Alicia Valadez, Maria Elena Ramirez-Miranda, Gie-Bele Vargas-Sanchez, and Fernando Martínez-Hernández
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Adult ,Male ,Patients ,lcsh:Medicine ,Intestinal parasite ,Blastocystis Infections ,Real-Time Polymerase Chain Reaction ,medicine.disease_cause ,Microbiology ,Irritable Bowel Syndrome ,Feces ,Genetic variation ,medicine ,Humans ,Genetic variability ,lcsh:Science ,Phylogeny ,Genetics ,Blastocystis ,Genetic diversity ,Multidisciplinary ,biology ,lcsh:R ,Genetic Variation ,Bayes Theorem ,DNA, Protozoan ,Middle Aged ,biology.organism_classification ,Parasitology ,Case-Control Studies ,lcsh:Q ,Female ,Sequence Alignment ,Asymptomatic carrier ,Research Article - Abstract
Blastocystis spp is a common intestinal parasite of humans and animals that has been associated to the etiology of irritable bowel syndrome (IBS); however, some studies have not found this association. Furthermore, many biological features of Blastocystis are little known. The objective of present study was to assess the generation times of Blastocystis cultures, from IBS patients and from asymptomatic carriers. A total of 100 isolates were obtained from 50 IBS patients and from 50 asymptomatic carriers. Up to 50 mg of feces from each participant were cultured in Barret's and in Pavlova's media during 48 h. Initial and final parasitological load were measured by microscopy and by quantitative PCR. Amplicons were purified, sequenced and submitted to GenBank; sequences were analysed for genetic diversity and a Bayesian inference allowed identifying genetic subtypes (ST). Generation times for Blastocystis isolates in both media, based on microscopic measures and molecular assays, were calculated. The clinical symptoms of IBS patients and distribution of Blastocystis ST 1, 2 and 3 in both groups was comparable to previous reports. Interestingly, the group of cases showed scarce mean nucleotide diversity (π) as compared to the control group (0.011±0.016 and 0.118±0.177, respectively), whilst high gene flow and small genetic differentiation indexes between different ST were found. Besides, Tajima's D test showed negative values for ST1-ST3. No statistical differences regarding parasitological load between cases and controls in both media, as searched by microscopy and by qPCR, were detected except that parasites grew faster in Barret's than in Pavlova's medium. Interestingly, slow growth of isolates recovered from cases in comparison to those of controls was observed (p
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- 2015
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45. Excess Molar Volumes of some Polyether + Water Systems
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GERARD DOUHERET, MICHAEL I. DAVIS, MARIA ELENA HERNANDEZ, and HEATHER FLORES
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literature ,analyses ,system - Abstract
Laboratoire de Thermodynamique et Cinetique Chimique, U.R.A. au C.N.R.S. n°434, UniversityBlaise Pascal(Clemont-Ferrand), F-63177 Aubiere Cedex, France Department or Chemistry, University or Texas at El Paso, El Paso, Texas 79968-0513, U.S.A. Manuscript received 1February 1993 Excess molar volumes at 25°, are reported for the system 1,2-dimethoxyethane + water and 12-crown-4 +water across their entire respective composition ranges. These data have been compared to others taken from the literature, in an effort to assess the effects of replacing hydroxy by methoxy groups, of switching linearto cyclic polyethers and of inserting oxyethylene groups The data sets were analysed using a segmented composition model in order to obtain a quantitative description of the composition dependence of the excess molar volumes. Excess partial molar volumes of the organic species at infinite aqueous dilution were evaluated by means of four segment analyses of the various excess volume data sets. The effectiveness of the group additivity principle is nicely demonstrated.
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- 1993
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46. Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing
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Michelle A. Wedemeyer, Tianli Ding, Elizabeth A. R. Garfinkle, Jesse J. Westfall, Jaye B. Navarro, Maria Elena Hernandez Gonzalez, Elizabeth A. Varga, Patricia Witman, Elaine R. Mardis, Catherine E. Cottrell, Anthony R. Miller, and Katherine E. Miller
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Medicine ,Science - Abstract
Abstract PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic mosaic variants that result in constitutive activation of the phosphatidylinositol-3-kinase/AKT/mTOR pathway. Promising responses to molecularly targeted therapy have been reported, although identification of an appropriate agent can be hampered by the mosaic nature and corresponding low variant allele frequency of the causal variant. Moreover, our understanding of the molecular consequences of these variants—for example how they affect gene expression profiles—remains limited. Here we describe in vitro expansion of a human capillary malformation followed by molecular characterization using exome sequencing, single cell gene expression, and targeted long-read single cell RNA-sequencing in a patient with clinical features consistent with Megalencephaly-Capillary Malformation Syndrome (MCAP, a PROS condition). These approaches identified a targetable PIK3CA variant with expression restricted to PAX3+ fibroblast and undifferentiated keratinocyte populations. This study highlights the innovative combination of next-generation single cell sequencing methods to better understand unique transcriptomic profiles and cell types associated with MCAP, revealing molecular intricacies of this genetic syndrome.
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- 2024
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47. Cardiovascular effect of preeclampsia upon offspring development: Are (Pro) renin-renin receptor ((P)RR) and gender related?
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Lourdes Baeza-Perez, Sandra Edith Cabrera-Becerra, Rodrigo Romero-Nava, Erika Ramos-Tovar, Maria Elena Hernandez-Campos, and Pedro Lopez-Sanchez
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gender ,handle region peptide ,hypertension ,preeclampsia ,(pro)renin/renin receptor ,renin angiotensin aldosterone system ,Medicine - Abstract
Objective(s): Preeclampsia (PE) is a complication of pregnancy that might increase progeny risk of cardiovascular and metabolic problems, mainly in males. Renin angiotensin aldosterone system is known to be involved. (Pro) renin/renin receptor ((P)RR) has been shown to participate in cardiovascular pathology. The aim of this work was to evaluate (P)RR expression and function upon cardiovascular and renal tissues from PE dams’ offspring.Materials and Methods: We used offspring from normal pregnant and preeclamptic rats, evaluating body, heart, aorta and kidney weight, length, and blood pressure along 3 months after birth. Subsets of animals received handle region peptide (HRP) (0.2 mg/Kg, sc). Another group received vehicle. Animals were sacrificed at first, second, and third months of age, tissues were extracted and processed for immunoblot to detect (P)RR, PLZF, β-catenin, DVL-1, and PKCα. (P)RR and PLZF were also measured by RT-PCR. Results: We found that offspring developed hypertension. Male descendants remained hypertensive throughout the whole experiment. Female animals tended to recover at second month and returned to normal blood pressure at third month. HRP treatment diminished hypertension in both male and female animals. Morphological evaluations showed changes in heart, aorta, and kidney weight, and HRP reverted this effect. Finally, we found that (P)RR, PLZF, and canonical WNT transduction pathway molecules were stimulated by PE, and HRP treatment abolished this increase. Conclusion: These findings suggest that PE can induce hypertension in offspring, and (P)RR seems to play an important role through the canonical WNT pathway and that gender seems to influence this response.
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- 2024
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48. Co-design of a Virtual Reality Cognitive Remediation Program for Depression (bWell-D) With Patient End Users and Clinicians: Qualitative Interview Study Among Patients and Clinicians
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Maria Elena Hernandez Hernandez, Erin Michalak, Nusrat Choudhury, Mark Hewko, Ivan Torres, Mahesh Menon, Raymond W Lam, and Trisha Chakrabarty
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Information technology ,T58.5-58.64 ,Public aspects of medicine ,RA1-1270 - Abstract
BackgroundMajor depressive disorder (MDD) is the leading cause of global disability; however, the existing treatments do not always address cognitive dysfunction—a core feature of MDD. Immersive virtual reality (VR) has emerged as a promising modality to enhance the real-world effectiveness of cognitive remediation. ObjectiveThis study aimed to develop the first prototype VR cognitive remediation program for MDD (“bWell-D”). This study gathered qualitative data from end users early in the design process to enhance its efficacy and feasibility in clinical settings. MethodsSemistructured end-user interviews were conducted remotely (n=15 patients and n=12 clinicians), assessing the participants’ perceptions and goals for a VR cognitive remediation program. Video samples of bWell-D were also shared to obtain feedback regarding the program. The interviews were transcribed, coded, and analyzed via thematic analysis. ResultsEnd users showed an optimistic outlook toward VR as a treatment modality, and perceived it as a novel approach with the potential of having multiple applications. The participants expressed a need for an engaging VR treatment that included realistic and multisensorial settings and activities, as well as customizable features. Some skepticism regarding its effectiveness was also reported, especially when the real-world applications of the practiced skills were not made explicit, as well as some concerns regarding equipment accessibility. A home-based or hybrid (ie, home and clinic) treatment modality was preferred. ConclusionsPatients and clinicians considered bWell-D interesting, acceptable, and potentially feasible, and provided suggestions to enhance its real-world applicability. The inclusion of end-user feedback is encouraged when developing future VR programs for clinical purposes.
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- 2023
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