219 research outputs found
Policy Point-Counterpoint: Are the Trump Administration’s Immigration Policies Just or Unjust for Immigrant Children in Particular and the Country in General?
In this policy point-counterpoint, the current administration\u27s immigration policy is examined through the lens of justness
Bases moleculares de las lipodistrofias familiares
Con este estudio nos propusimos hacer un diagnóstico genético de pacientes fenotípicamente lipodistróficas y obtener evidencias que contribuyeran a esclarecer los mecanismos moleculares por los que se produce la pérdida de TA en pacientes con lipodistrofias familiares
Characterization of retinal cells derived from iPSCs of a patient with PRPF31 associated retinitis pigmentosa
Motivation: Retinitis pigmentosa (RP) is a group of hereditary retinal dystrophies caused by mutations in different genes with a prevalence of 1 in 4000. It is an untreatable disease with a variable clinical evolution in which patients develop severe visual impairment or total blindness. Mutations in pre-mRNA splicing PRPF31 gene have been described as the second most common cause of autosomal dominant RP. Previous studies relate mutations in PRPF31 with dysfunction and degeneration of the retinal pigment epithelium (RPE). Thanks to the ability to obtain and differentiate induced pluripotent stem cells (iPSC), retinal models can be generated to study the disease mechanism and to evaluate new therapies. This work is based on a personalized cellular model obtained by differentiating RPE from iPSCs of a patient with PRPF31 c.165G mutation, which will be used to study the mechanism of the disease.
Methods: iPSCs and previously differentiated RPE cells have been cultured and imaged. The characterization of the RNA level expression of specific genes of both cell types has been performed by RT-PCR. Expression at the protein level has been analyzed by Western blot. At the physiological level, the ability of the cellular model to establish an epithelial barrier has been evaluated by transepithelial electrical resistance (TER).
Results: Phase contrast images showed a characteristic and distintive morphology of iPSC and RPE cells. RT-PCR showed the silencing of pluripotency genes such as NANOG in RPE cells, as well as the exclusive expression of specific genes such as CRALBP and RPE65 in RPE. In the comparative study of the cellular models of patient and healthy control, it was observed a variation in the expression levels of the PRPF31 and RPE65 genes. In Western blot, the PRPF31 protein detected in the patient's RPE showed a different band pattern compared with healthy control and iPSCs. Finally, TER showed a similar maturation of the two cell models compared, indicating that PRPF31 c.165G mutation does not affect the cells adhesions.
Conclusions: The cellular model of RPE with PRPF31 c.165G mutation has been correctly differentiated, allowing the study of the consequences at the cellular level of this genetic defect. The decrease found in RPE65 gene expression suggests that this could be the mechanism by wich PRPF31 c.165G mutation causes RP, because RPE65 insufficiency is a known cause of blindness
Formación científica en y para la civilidad: Un propósito ineludible de la educación en ciencias
La Educación en Ciencias como campo de conocimientos y como práctica sociocultural, está llamada hoy a la construcción y análisis de propuestas pedagógicas que permitan a los estudiantes afrontar, de manera crítica y propositiva, las tensiones y contradicciones inherentes al mundo contemporáneo. Atender a este llamado implica, desde nuestro punto de vista, visibilizar el carácter sociopolítico de las ciencias y de la enseñanza, para dirigir la mirada hacia un reto pedagógico ineludible: una formación científica en y para civilidad. Así, en la perspectiva de construir caminos y hallar condiciones de posibilidad para lograr tal propósito, en este artículo presentamos, en secuencia no lineal, algunas consideraciones acerca de: a) el interés formativo del campo de la Educación en Ciencias; b) los presupuestos teóricos y específicamente, las perspectivas epistemológicas que subyacen al propósito planteado; c) las contribuciones de los estudios sobre la importancia que tienen la argumentación y, específicamente, los debates sobre asuntos sociocientíficos, en la enseñanza de las disciplinas científicas; d) como aporte central exponemos, a modo de caja de herramientas, algunas propuestas pedagógicas con sus potencialidades y limitaciones, en tanto travesías que exigen la problematización de la enseñanza de las ciencias naturales, como condición necesaria para privilegiar los aportes a una formación científica de tendencia civilista. Se trata de un propósito complejo que implica tener en cuenta al menos dos cuestiones que aquí discutimos: por un lado, que toda propuesta de enseñanza está vinculada con una formación sociopolítica; y por el otro, que el énfasis en algunos aspectos formativos conlleva el desdibujamiento de otros
Fertility-Sparing Surgery versus Radical Hysterectomy in Early Cervical Cancer: A Propensity Score Matching Analysis and Noninferiority Study
Early cervical cancer; Fertility-sparing surgery; Radical hysterectomyCáncer de cuello uterino temprano; Cirugía conservadora de la fertilidad; Histerectomía radicalCàncer de coll uterí precoç; Cirurgia conservadora de la fertilitat; Histerectomia radicalObjective: Fertility-sparing surgery (FSS) is the treatment of choice for patients with early cervical cancer (ECC) and fertility desire, but survival rates compared to radical hysterectomy (RH) have been scarcely reported. The aim of this study was to analyse the oncological outcomes of FSS compared to a balanced group of standard RH. Methods: A retrospective multicentre study of ECC patients who underwent FSS or RH was carried out in 12 tertiary hospitals in Spain between January 2005 and January 2019. The experimental group included patients who underwent a simple and radical trachelectomy, and the control group included patients who underwent RH. Optimal 1:1 propensity score (PS) matching analysis was performed to balance the series. Results: The study included 222 patients with ECC; 111 (50%) were treated with FSS, and 111 (50%) were treated with RH. After PS matching, a total of 38 patients in the FSS group and 38 patients in the RH group were analysed. In both groups, the overall survival (HR 2.5; CI 0.89, 7.41) and recurrence rates (28.9% in the FSS group vs. 13.2% in RH group) were similar. The rate of disease-free survival at 5 years was 68.99% in the FSS group and 88.01% in the RH group (difference of −19.02 percentage points; 95% CI −32.08 to −5.96 for noninferiority). In the univariate analysis, only tumour size reached statistical significance. Conclusion: FSS offers excellent disease-free and overall survival in women with ECC with fertility desire and is not inferior compared to RH.This work received financial support from the Medtronic University Chair for Training and Surgical Research, University Jaume I (UJI), Castellon, Spain
Lo sublime frente a lo pintoresco: Orgullo y prejuicio y Jane Eyre
Actas del V Congreso Internacional de Historia y Cine celebrado en la Universidad Carlos III de Madrid del 5 al 7 de Septiembre de 2016.Esta comunicación se propone analizar el papel que el cine ha representado a la hora
de trasladar a la pantalla los ambientes de aquel tiempo y la realidad que se muestra en cada
caso. No se trata tan sólo de transformar un libro en un formato visual: una adaptación cinematográfica
va más allá de eso458. Como cada medio, el cine exige otra forma de contar las
historias. El lenguaje es diferente, la ambientación se consigue de forma más directa, es necesario
conciliar el punto de vista y la imaginación de los lectores (cosa extremadamente complicada,
por no decir imposible) y, además, el público es un factor variable que cambia con
los años. El lector -o espectador, en su defecto- de Jane Austen o Charlotte Bronte hoy en
día no es el mismo que recibió las novelas en su momento. Con cada adaptación, es preciso
replantear el texto, su ambientación histórica, los personajes y cualquier mínimo detalle que
pueda marcar una diferencia en la relación que se quiere establecer entre argumento y espectado
Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant
Type 2 familial partial lipodystrophy, or Dunnigan disease, is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution. This rare condition results from variants principally affecting exons 8 and 11 of the LMNA gene. In this study, five FPLD2-diagnosed patients carrying the c.1583C>T, p.(Thr528Met) variant in exon 9 of the LMNA gene and with obvious clinical heterogeneity were evaluated. Specific polymorphisms in LMNA and in PPARG were also detected. Exhaustive clinical course, physical examination, biochemical features and family history were recorded, along with the assessment of anthropometric features and body composition by dual-energy X-ray absorptiometry. Preadipocytes obtained from a T528M patient were treated with the classic adipose differentiation medium with pioglitazone. Various adipogenes were evaluated by real-time PCR, and immunofluorescence was used to study intracellular localization of emerin, lamin A and its precursors. As demonstrated with Oil red O staining, the preadipocytes of the T528M patient failed to differentiate, the expression of various adipogenic genes was reduced in the lipodystrophic patient and immunofluorescence studies showed an accumulation of farnesylated prelamin A in T528M cells. We conclude that the T528M variant in LMNA could lead to FPLD2, as the adipogenic machinery is compromisedThis research was funded by the Instituto de Salud Carlos III and the European Regional Development Fund, FEDER (grant number PI081449), and an intramural grant from the Xunta de Galicia (grant number ED431B 2020/37). S.S.I. was awarded a Research Fellowship by the Asociación Española de Familiares y Afectados de Lipodistrofias (AELIP)S
Variation in progesterone receptors and GnRH expression in the hypothalamus of the pregnant South American plains vizcacha, Lagostomus maximus (Mammalia, Rodentia)
In mammals, elevated levels of progesterone (P4) throughout gestation maintain a negative feedback over the hypothalamic-hypophyseal-gonadal (H-H-G) axis, avoiding preovulatory follicular growth and preventing ovulation. Recent studies showed that in the South American plains vizcacha (Lagostomus maximus) folliculogenesis progresses to preovulatory stages during gestation, and an ovulatory process seems to occur at midgestation. The aim of this work was to analyze hypothalamic gonadotropin-releasing hormone (GnRH) and P4 receptors (PR) expression and luteinizing hormone (LH) secretion and correlate these with the functional state of the ovary in nonovulating and ovulating females and gestating females with special emphasis in the supposedly ovulating females at midgestation. We investigated P4 and LH serum levels as well as the distribution, localization, and expression of PR and GnRH in the hypothalamus of L. maximus at different time points during gestation and in nongestating, ovulating and nonovulating, females. A significant increment in GnRH, P4, and LH was detected in midpregnant vizcachas with respect to early-pregnant and to ovulating females. PR was also significantly increased in midpregnant animals. PR was detected in neurons of the preoptic and hypothalamic areas. Coexistence of both PR and GnRH in neurons of medial preoptic area and supraoptic nucleus was detected. Midpregnant animals showed increased number of PR immunoreactive cells at median eminence, localized adjacently to GnRH immunoreactive fibers. High expression of hypothalamic GnRH and PR, despite an increased level of P4, was correlated with the presence of antral, preovulatory follicles, and luteinized unruptured follicles at midgestation that suggest a possible role of the H-H-G axis in the modulation of ovulation during gestationFil: Dorfman, Verónica Berta. Universidad Maimónides. Area de Investigaciones Biomédicas y Biotecnológicas. Centro de Estudios Biomédicos, Biotecnológicos, Ambientales y Diagnósticos; ArgentinaFil: Saucedo, Lucia. Universidad Maimónides. Area de Investigaciones Biomédicas y Biotecnológicas. Centro de Estudios Biomédicos, Biotecnológicos, Ambientales y Diagnósticos; ArgentinaFil: Di Giorgio, Noelia Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); ArgentinaFil: Inserra, Pablo Ignacio Felipe. Universidad Maimónides. Area de Investigaciones Biomédicas y Biotecnológicas. Centro de Estudios Biomédicos, Biotecnológicos, Ambientales y Diagnósticos; ArgentinaFil: Fraunhoffer Navarro, Nicolas Alejandro. Universidad Maimónides. Area de Investigaciones Biomédicas y Biotecnológicas. Centro de Estudios Biomédicos, Biotecnológicos, Ambientales y Diagnósticos; ArgentinaFil: Leopardo, Noelia Paola. Universidad Maimónides. Area de Investigaciones Biomédicas y Biotecnológicas. Centro de Estudios Biomédicos, Biotecnológicos, Ambientales y Diagnósticos; ArgentinaFil: Halperin, Julia. Universidad Maimónides. Area de Investigaciones Biomédicas y Biotecnológicas. Centro de Estudios Biomédicos, Biotecnológicos, Ambientales y Diagnósticos; ArgentinaFil: Lux, Victoria Adela R.. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); ArgentinaFil: Vitullo, Alfredo Daniel. Universidad Maimónides. Area de Investigaciones Biomédicas y Biotecnológicas. Centro de Estudios Biomédicos, Biotecnológicos, Ambientales y Diagnósticos; Argentin
Fertility-Sparing Surgery versus Radical Hysterectomy in Early Cervical Cancer : A Propensity Score Matching Analysis and Noninferiority Study
Fertility-sparing surgery (FSS) is the treatment of choice for patients with early cervical cancer (ECC) and fertility desire, but survival rates compared to radical hysterectomy (RH) have been scarcely reported. The aim of this study was to analyse the oncological outcomes of FSS compared to a balanced group of standard RH. A retrospective multicentre study of ECC patients who underwent FSS or RH was carried out in 12 tertiary hospitals in Spain between January 2005 and January 2019. The experimental group included patients who underwent a simple and radical trachelectomy, and the control group included patients who underwent RH. Optimal 1:1 propensity score (PS) matching analysis was performed to balance the series. The study included 222 patients with ECC; 111 (50%) were treated with FSS, and 111 (50%) were treated with RH. After PS matching, a total of 38 patients in the FSS group and 38 patients in the RH group were analysed. In both groups, the overall survival (HR 2.5; CI 0.89, 7.41) and recurrence rates (28.9% in the FSS group vs. 13.2% in RH group) were similar. The rate of disease-free survival at 5 years was 68.99% in the FSS group and 88.01% in the RH group (difference of −19.02 percentage points; 95% CI −32.08 to −5.96 for noninferiority). In the univariate analysis, only tumour size reached statistical significance. FSS offers excellent disease-free and overall survival in women with ECC with fertility desire and is not inferior compared to RH
Fertility-Sparing Surgery versus Radical Hysterectomy in Early Cervical Cancer: A Propensity Score Matching Analysis and Noninferiority Study
Objective: Fertility-sparing surgery (FSS) is the treatment of choice for patients with early cervical cancer (ECC) and fertility desire, but survival rates compared to radical hysterectomy (RH) have been scarcely reported. The aim of this study was to analyse the oncological outcomes of FSS compared to a balanced group of standard RH. Methods: A retrospective multicentre study of ECC patients who underwent FSS or RH was carried out in 12 tertiary hospitals in Spain between January 2005 and January 2019. The experimental group included patients who underwent a simple and radical trachelectomy, and the control group included patients who underwent RH. Optimal 1:1 propensity score (PS) matching analysis was performed to balance the series. Results: The study included 222 patients with ECC; 111 (50%) were treated with FSS, and 111 (50%) were treated with RH. After PS matching, a total of 38 patients in the FSS group and 38 patients in the RH group were analysed. In both groups, the overall survival (HR 2.5; CI 0.89, 7.41) and recurrence rates (28.9% in the FSS group vs. 13.2% in RH group) were similar. The rate of disease-free survival at 5 years was 68.99% in the FSS group and 88.01% in the RH group (difference of −19.02 percentage points; 95% CI −32.08 to −5.96 for noninferiority). In the univariate analysis, only tumour size reached statistical significance. Conclusion: FSS offers excellent disease-free and overall survival in women with ECC with fertility desire and is not inferior compared to RH
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