721 research outputs found
Previous obstretic experiences, perception of medical risk and emotional disease in pregnant women.
El objetivo de este trabajo fue comprender la influencia de las experiencias
obstétricas previas de mujeres con embarazo de alto riesgo en su percepción
del riesgo médico y su malestar emocional. Se realizaron entrevistas
semiestructuradas y se analizaron los relatos de 7 mujeres alrededor de
tres categorías: 1) Riesgo percibido; 2) Experiencias obstétricas previas
y 3) Malestar emocional. Los resultados mostraron que las experiencias
obstétricas adversas influyen en el riesgo percibido y la intensidad del
malestar emocional; impactan en la relación de pareja y en la percepción
de la atención médica. La gravedad de la complicación para la mujer y su
bebé explica la intensidad del malestar emocional y el riesgo percibido. Se
debe ofrecer apoyo emocional como parte de la atención médica integral
durante el embarazo y generar políticas en salud mental que garanticen
esta atención
Plan de marketing para el lanzamiento del estudio de diseño Koete dirigido a Mipymes
Desde la última década, las empresas peruanas están viviendo una serie de cambios. Uno de los principales es la transformación digital en la venta de productos y servicios. La tecnología ha hecho que la imagen de una empresa esté expuesta a un click de distancia de todos los usuarios de internet; las empresas, conscientes de ello, reconocen que transmitir una correcta y coherente identidad es un factor muy importante a la hora de obtener distinción por parte de sus clientes, prospectos y grupo de interés. Koete es un proyecto de estudio de diseño gráfico y desarrollo digital que busca atender a las empresas que valoren el diseño y que estén interesadas en desarrollar su identidad y las aplicaciones impresas y digitales de sus marcas como elementos clave para su diferenciación y rentabilidad en el mercado
Análisis de deleciones en 15 exones situados dentro y fuera del hot spot mutacional del gen de la distrofina en pacientes con distrofia muscular de Duchenne
Introducción. La distrofia muscular de Duchenne (DMD), y su forma alélica más leve, la distrofia muscular de Becker (DMB), es una entidad de herencia recesiva ligada al X, que se presenta con debilidad muscular, pérdida progresiva de las habilidades motoras y muerte precoz. Es causada principalmente por deleciones en el gen de la distrofina, el cual contiene 79 exones.Objetivo. Realizar un análisis ampliado para evaluar la presencia de deleciones en 15 exones del gen de la distrofina situados dentro y fuera del hot spot mutacional en 58 pacientes afectados con DMD/DMB sin mutación previamente identificada.Metodología. Amplificación, mediante PCR múltiplex, de 4 exones situados dentro y 11 fuera del hot spot mutacional descrito para el gen de la distrofina en 58 pacientes afectados con DMD y determinar la frecuencia de deleciones en la población analizada. Resultados. Se encontró deleción del exón 16 en uno de los pacientes estudiados, hecho que indica una frecuencia de 1,7%. No se observó ninguna deleción de los exones situados fuera del hot spot mutacional.Conclusiones. La frecuencia de deleciones en los 15 exones del gen de la distrofina analizados es baja; sólo se presentó en el exón 16, el cual se encuentra localizado en el hot spot mutacional proximal del gen. Es importante analizar este exón en los afectados, en la medida en que aumenta la tasa de detección de deleciones en un 1,7%. Se debe analizar otro tipo de mutaciones como puntuales y duplicaciones en los afectados.Introduction. Duchenne and Becker Muscular Dystrophies (DMD/DMB) are X-linked recessive diseases characterized by progressive muscle weakness and wasting, loss of motor skills and death after the second decade of life. Deletions are the most prevalent mutations that affect the dystrophin gene, which spans 79 exons.Objective: Identify deletions on the dystrophin gene in 58 patients affected with DMD.Methods: Through multiplex PCR identify deletions on the dystrophin gene in 58 patients with DMD and observe the frequency of this mutation in our population.Results: We found deletions in 1.72% of patients (1 of 58 persons). Deletions were not the principal cause of disease in our population. It is possible that duplications and point mutations caused this illness in our patients.Conclusions: The frequency of deletions in the 15 exons analyzed from the dystrophin gene was low. The predominant types of mutation in our patients` samples were not deletions as has been observed in the literature worldwide, therefore, it is important to determine other types of mutations as are duplications and point mutations
Prevalence of temporomandibular disorders and associated factors in students at a private university in Lima-Peru
Introduction: Temporomandibular disorders (TMDs) are musculoskeletal and neuromuscular alterations that affect the temporomandibular joint, masticatory muscles, and contiguous structures. A high prevalence of TMD has been reported in university students, and it may also be associated with neck pain and emotional disturbances. The objective is to determine the prevalence and factors associated with TMD in university students. M ethods: An analytical cross-sectional observational study was conducted. The population was university students who have completed in 2021, aged between 18 and 35 years. The Fonseca Simplified Anamnestic Index Questionnaire, DASS-21, Nordic Questionnaire, and general data questionnaire were used. Results: 378 university students were included in the study, 73.6 % had TMD and 59.8 % had cervical pain in the last 7 days. 55.6 %, 71.4 %, and 65.6 % presented stress, anxiety, and depression, respectively. A significant association was found between TMD and cervical pain in the last 7 days (RPa=1.28, CI95 % 1.11 to 1.47, p=0.001), with anxiety (RPa=1.24, CI95 % 1.02 to 1.52, p=0.033) and with female sex (RPa=1.18, CI95 % 1.02 to 1.37, p=0.025). On the contrary, no association was found between TTM and the stress and depression variables. Conclusion: 73.6 % of university students had TMD, and it was also shown that cervical pain in the last 7 days and anxiety were associated with TMD. No relationship was found between stress and depression with TMD.Revisión por pare
Educación para la Ciudadanía y la Convivencia Ciclo tres (Quinto, sexto y séptimo) : Parceras y parceros por la paz (en 140 caracteres)
Particularmente, el presente módulo hace énfasis en el fortalecimiento de la empatía frente al sufrimiento de las personas y la naturaleza, así como la ampliación de nuestra capacidad de amar al género humano y extenderla a la protección y defensa del medio que posibilita nuestra existencia y la de las generaciones que nos seguirán. Asimismo, se ofrecen guías de trabajo en la Reflexión-Acción-Participación que permiten una gestión más autónoma de los aprendizajes y acciones transformadoras en los distintos territorios al alcance de los grupos participantes, apoyándose también en los principios de funcionamiento de plataformas y redes sociales en Internet
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The LRRK2-macroautophagy axis and its relevance to Parkinson's Disease
A wide variety of different functions and an impressive array of interactors have been associated with leucine-rich repeat kinase 2 (LRRK2) over the years. Here, I discuss the hypothesis that LRRK2 may be capable of interacting with different proteins at different times and places, therefore, controlling a plethora of diverse functions based on the different complexes formed. Among these, I will then focus on macroautophagy in the general context of the endolysosomal system. First, the relevance of autophagy in Parkinson's disease will be evaluated giving a brief overview of all the relevant Parkinson's disease genes; then, the association of LRRK2 with macroautophagy and the endolysosomal pathway will be analyzed based on the supporting literature
Nefrectomía laparoscópica en un hospital general
Objective: To report the findings of laparoscopic nephrectomies in patients with malignant, benignant and donor conditions. Methods: A retrospective case series carried-out at Cayetano Heredia Hospital between August 2013 and May 2019. Patients with non-functioning kidneys of any etiology and contra lateral kidney functioning were included. Patients with severe pionephrosis were excluded. Demographic, clinical, body mass index, etiology of the nonfunctioning kidney, conversion rate, laterality, operating time, histopathology of the resected kidneys, complications, need for blood transfusion, hospital stay and clinical evolution. Results: 70 patients were evaluated; in 39 (55.8%) a simple laparoscopy for benign entities was performed; in 23 (32.8%) a radical nephrectomy for cancer was performed and in 8 (11.4%) a laparoscopy was performed for living donors. In 7 patients the laparoscopic procedure converted into open surgery. Mean operating time was 188.94 ± 33.41 min. Main histopathological findings were chronic pyelonephritis and renal carcinoma. Complications by Clavien classification were: Grade I: 21(30%), II: 9(12.8%) and V: 1(1.4%). Mean hospital stay was 4.66 ± 2.97 days; 85.7% had good clinical evolution. Conclusion: Laparoscopic nephrectomy for benign and malignant conditions as well as for kidney donors is a minimally invasive technique which is reproducible, safe, effective and therefore represents an alternative to open surgery.Objetivo: Describir los resultados de la nefrectomía laparoscópica en pacientes con riñones excluidos benignos, malignos y de donantes. Material y métodos: Estudio de serie de casos, retrospectivo, realizado en el Hospital Cayetano Heredia entre agosto del 2013 y mayo del 2019. Se incluyeron pacientes con riñones no funcionantes de cualquier etiología y riñón contralateral funcionante. Se excluyendo pacientes con pionefrosis severa. Se registraron sus características clínicas, demográficas, índice de masa corporal, etiología del riñón no funcionante, tasa de conversión, lateralidad, tiempo operatorio, histopatología de los riñones intervenidos, complicaciones, necesidad de transfusión, estancia hospitalaria y evolución de los pacientes intervenidos. Resultados: Se evaluaron 70 pacientes; en 39 (55,8%) se realizó nefrectomía laparoscópica simple por patología benigna, en 23 (32,8%) nefrectomía radical laparoscópica por cáncer y en 8 (11,4%) nefrectomía laparoscópica donante vivo. En 7 pacientes se tuvo que convertir a cirugía abierta. La media del tiempo operatorio fue 188,94 ± 33,41 min. Los resultados histopatológicos fueron pielonefritis crónica y carcinoma renal. No hubo variaciones clínicamente significativas en los niveles de hemoglobina, hematocrito, urea, creatinina. Las complicaciones según clasificación de Clavien: Grado I: 21(30%), II: 9(12,8%) y V: 1(1,4%). La media del tiempo de hospitalización fue 4,66 ± 2,97 días, con buena evolución postoperatoria en el 85,7% de los pacientes. Conclusión: La nefrectomía laparoscópica para riñones excluidos de patología benigna como maligna y de donantes de riñón, es una técnica mínimamente invasiva, reproducible, segura, efectiva y una alternativa a la cirugía abierta
Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA
The screening of the BCR::ABL1 kinase domain (KD) mutation has become a routine analysis in case of warning/failure for chronic myeloid leukemia (CML) and B-cell precursor acute lymphoblastic leukemia (ALL) Philadelphia (Ph)-positive patients. In this study, we present a novel DNA-based next-generation sequencing (NGS) methodology for KD ABL1 mutation detection and monitoring with a 1.0E−4 sensitivity. This approach was validated with a well-stablished RNA-based nested NGS method. The correlation of both techniques for the quantification of ABL1 mutations was high (Pearson r = 0.858, p < 0.001), offering DNA-DeepNGS a sensitivity of 92% and specificity of 82%. The clinical impact was studied in a cohort of 129 patients (n = 67 for CML and n = 62 for B-ALL patients). A total of 162 samples (n = 86 CML and n = 76 B-ALL) were studied. Of them, 27 out of 86 harbored mutations (6 in warning and 21 in failure) for CML, and 13 out of 76 (2 diagnostic and 11 relapse samples) did in B-ALL patients. In addition, in four cases were detected mutation despite BCR::ABL1 < 1%. In conclusion, we were able to detect KD ABL1 mutations with a 1.0E−4 sensitivity by NGS using DNA as starting material even in patients with low levels of disease.Tis project was funded in part by CRIS CANCER FOUNDATION
Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA
The screening of the BCR::ABL1 kinase domain (KD) mutation has become a routine analysis in case of warning/failure for chronic myeloid leukemia (CML) and B-cell precursor acute lymphoblastic leukemia (ALL) Philadelphia (Ph)-positive patients. In this study, we present a novel DNA-based next-generation sequencing (NGS) methodology for KD ABL1 mutation detection and monitoring with a 1.0E-4 sensitivity. This approach was validated with a well-stablished RNA-based nested NGS method. The correlation of both techniques for the quantification of ABL1 mutations was high (Pearson r = 0.858, p < 0.001), offering DNA-DeepNGS a sensitivity of 92% and specificity of 82%. The clinical impact was studied in a cohort of 129 patients (n = 67 for CML and n = 62 for B-ALL patients). A total of 162 samples (n = 86 CML and n = 76 B-ALL) were studied. Of them, 27 out of 86 harbored mutations (6 in warning and 21 in failure) for CML, and 13 out of 76 (2 diagnostic and 11 relapse samples) did in B-ALL patients. In addition, in four cases were detected mutation despite BCR::ABL1 < 1%. In conclusion, we were able to detect KD ABL1 mutations with a 1.0E-4 sensitivity by NGS using DNA as starting material even in patients with low levels of disease
Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements [RETRACTED]
Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A–D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A–B 22q11.2 deletion carry inversions of LCR22B–D or LCR22C–D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders
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