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1.
Front Sports Act Living ; 6: 1357353, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38600906

RESUMO

Introduction: Inertial measurement units (IMUs) are utilized to measure trunk acceleration variables related to both running performances and rehabilitation purposes. This study examined both the reliability and sex-based differences of these variables during an incremental treadmill running test. Methods: Eighteen endurance runners performed a test-retest on different days, and 30 runners (15 females) were recruited to analyze sex-based differences. Mediolateral (ML) and vertical (VT) trunk displacement and root mean square (RMS) accelerations were analyzed at 9, 15, and 21 km·h-1. Results: No significant differences were found between test-retests [effect size (ES)<0.50)]. Higher intraclass correlation coefficients (ICCs) were found in the trunk displacement (0.85-0.96) compared to the RMS-based variables (0.71-0.94). Male runners showed greater VT displacement (ES = 0.90-1.0), while female runners displayed greater ML displacement, RMS ML and anteroposterior (AP), and resultant euclidean scalar (RES) (ES = 0.83-1.9). Discussion: The IMU was found reliable for the analysis of the studied trunk acceleration-based variables. This is the first study that reports different results concerning acceleration (RMS) and trunk displacement variables for a same axis in the analysis of sex-based differences.

3.
Artigo em Inglês | MEDLINE | ID: mdl-38483166

RESUMO

Silk fibroin (SF) microparticles were administered in the diet of gilthead seabream with or without experimental skin wounds to study the effects on cellular immunity and liver. A commercially available diet was enriched with varying amount of SF: 0, 50 and 100 mg kg-1 (representing the control, SF50 and SF100 diets respectively). The animals were fed for 30 days and half of them were sampled. Similar experimental wounds were then performed on the rest of fish, and they continued to be fed the same diet. At 7 days post-wounding, samples were taken from the wounded fish. Cellular immunity was studied on head kidney leucocytes (phagocytosis, respiratory and peroxidase content) and liver status (histological study and gene expression) were studied. Our results showed that experimental wounds affect both cellular immunity (by decreasing leucocyte respiratory burst and peroxidase activity) and altered liver histology (by inducing vascularisation and congestion of blood vessels). In addition, it influences the expression of genes that serve as markers of oxidative stress, endoplasmic reticulum stress and apoptosis. The highest dose of SF (SF100) increased the phagocytic capacity of leucocytes the most, as well as the expression of genes related to blood vessel formation in the liver. Furthermore, increased expression of antioxidant genes (cat and gsr) and decreased expression of genes related to reticulum endoplasmic stress (grp94 and grp170) and apoptosis (nos and jnk) were detected in these fish fed with SF100 and wounded. In conclusion, fed fish with SF100 had many beneficial effects as cellular immunostimulant and hepatoprotection in wounded fish. Its use could be of great interest for stress management in farmed fish conditions.

4.
Data Brief ; 53: 110186, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38406253

RESUMO

A dataset about three topics is provided, as a follow-up to the article "Mexico's forest diversity: common tree species and proposed forest-vegetation provinces" by Ricker et al. [1]. Firstly, 6927 site locations are provided for 22,532 trees of 1452 species. Secondly, measurements of basic wood-densities are reported for 779 tree species, obtained from 5256 trunk-core samples from Mexico's national forest inventory, and ranging from 0.05 to 0.93 g/cm3. Third, the data and maps of the forest-vegetation provinces from [1] were updated with the new cartography of Mexico's vegetation and land use (base year 2018). The maps are available now in an adjusted presentation as a shapefile-set for ArcGIS, as well as map-package and image files.

6.
Heliyon ; 10(1): e23494, 2024 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-38205282

RESUMO

STEAM (Science, Technology, Engineering, Arts and Mathematics) professions play a crucial role in transforming 21st-century society, as they contribute to developing new technologies that support the achievement of the Sustainable Development Goals (SDGs). Aligning engineering education with sustainable development requires raising awareness among students, fostering commitment among future generations of engineers, and promoting technical vocations. In this paper, an educational experience designed with these objectives is presented, in which more than 130 students from five undergraduate degrees in engineering and architecture at the Higher Polytechnic School of Zamora (HPSZ) of the University of Salamanca actively participated. To carry out the project, an online course was designed to train all participating students on general aspects of the 2030 Agenda, and research works were proposed in the ten involved degree subjects. The assessment of students' prior knowledge and learning regarding the 2030 Agenda was conducted through an objective multiple-choice pre-test and post-test. Additionally, their satisfaction with this educational experience was assessed through a questionnaire. The results revealed a considerable improvement in the students' knowledge of the general contents of sustainable development, especially after participating in classroom debate sessions. The initial objective test showed a low average score, indicating the lack of knowledge about the 2030 Agenda and the SDGs among engineering students. However, the final objective test revealed a significant improvement of 3 points out of 10. Regarding the research works, out of a total of 91 students, 53 papers addressing complex issues related to sustainable development and current engineering solutions were presented. This approach facilitated collaborative learning and the celebration of World Engineering Day at the HPSZ. The results of the satisfaction survey demonstrated that the experience was positive for both students and faculty Furthermore, its media impact was essential for increasing engineering vocations' visibility and social recognition.

7.
Eur J Ophthalmol ; 34(2): 541-548, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37671421

RESUMO

PURPOSE: To study the incidence of macular edema (ME), ocular hypertension (OHT), emulsification and migration to the anterior chamber (AC) of silicone oil (SO) in patients after complex retina surgery, stratified by SO type. METHODS: Retrospective, cohort study. Patients who underwent retina surgery with SO injection and extraction in our center were included. We compared the complication rates of ME, OHT, emulsification and migration to the AS according to SO type (1300cSt, 5700cSt and heavy SO). Data on age, sex, emulsification time, duration of the tamponade, previous retina surgeries and diagnosis were also gathered and included in a multivariate analysis. RESULTS: We included 163 patients (mean age of 64.8 years; mean duration of the tamponade: 11 months). Rates of emulsification, ME, OHT and SO migration to the AC were similar in all groups (p = 0.998, 0.668, 0.915 and 0.360). ME was the most frequent complication (33.3-47.8%), which resolved after SO extraction in 77.6% of cases. The majority of cases with OHT persisted (61.7%). Emulsification was related to younger age (OR 0.94) and longer duration of the tamponade (OR 1.04). The odds of SO migration to the AC increased with emulsification (OR 2.78), recurrent retinal detachment (OR 0.99) and aphakia (OR 4.05). CONCLUSIONS: We propose SO extraction as the preferred treatment for ME during SO tamponade. SO extraction should be performed sooner in younger patients to avoid emulsification. In selected patients, we suggest a longer duration of the tamponade up to 11 months with a reasonable safety profile, regardless of the SO type.


Assuntos
Glaucoma , Edema Macular , Descolamento Retiniano , Humanos , Pessoa de Meia-Idade , Estudos de Coortes , Estudos Retrospectivos , Óleos de Silicone/efeitos adversos , Vitrectomia/efeitos adversos , Descolamento Retiniano/epidemiologia , Descolamento Retiniano/cirurgia , Descolamento Retiniano/etiologia , Edema Macular/epidemiologia , Edema Macular/etiologia , Glaucoma/cirurgia
9.
FASEB J ; 38(1): e23376, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-38112167

RESUMO

Male germ cell development is dependent on the orchestrated regulation of gene networks. TATA-box binding protein associated factors (TAFs) facilitate interactions of TATA-binding protein with the TATA element, which is known to coordinate gene transcription during organogenesis. TAF7 like (Taf7l) is situated on the X chromosome and has been implicated in testis development. We examined the biology of TAF7L in testis development using the rat. Taf7l was prominently expressed in preleptotene to leptotene spermatocytes. To study the impact of TAF7L on the testis we generated a global loss-of-function rat model using CRISPR/Cas9 genome editing. Exon 3 of the Taf7l gene was targeted. A founder was generated possessing a 110 bp deletion within the Taf7l locus, which resulted in a frameshift and the premature appearance of a stop codon. The mutation was effectively transmitted through the germline. Deficits in TAF7L did not adversely affect pregnancy or postnatal survival. However, the Taf7l disruption resulted in male infertility due to compromised testis development and failed sperm production. Mutant germ cells suffer meiotic arrest at late zygotene/early pachynema stages, with defects in sex body formation. This testis phenotype was more pronounced than previously described for the subfertile Taf7l null mouse. We conclude that TAF7L is essential for male germ cell development in the rat.


Assuntos
Sêmen , Espermatogênese , Fatores Associados à Proteína de Ligação a TATA , Fator de Transcrição TFIID , Animais , Feminino , Masculino , Gravidez , Ratos , Diferenciação Celular , Meiose , Sêmen/metabolismo , Espermatócitos/metabolismo , Espermatogênese/fisiologia , Espermatozoides/metabolismo , Fatores Associados à Proteína de Ligação a TATA/genética , Fatores Associados à Proteína de Ligação a TATA/metabolismo , Testículo/metabolismo , Fator de Transcrição TFIID/genética , Fator de Transcrição TFIID/metabolismo
10.
Development ; 151(2)2024 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-38112206

RESUMO

Placental development involves coordinated expansion and differentiation of trophoblast cell lineages possessing specialized functions. Among the differentiated trophoblast cell lineages are invasive trophoblast cells, which exit the placenta and invade the uterus, where they restructure the uterine parenchyma and facilitate remodeling of uterine spiral arteries. The rat exhibits deep intrauterine trophoblast cell invasion, a feature shared with human placentation, and is also amenable to gene manipulation using genome-editing techniques. In this investigation, we generated a conditional rat model targeting the invasive trophoblast cell lineage. Prolactin family 7, subfamily b, member 1 (Prl7b1) is uniquely and abundantly expressed in the rat invasive trophoblast cell lineage. Disruption of Prl7b1 did not adversely affect placental development. We demonstrated that the Prl7b1 locus could be effectively used to drive the expression of Cre recombinase in invasive trophoblast cells. Our rat model represents a new tool for investigating candidate genes contributing to the regulation of invasive trophoblast cells and their roles in trophoblast-guided uterine spiral artery remodeling.


Assuntos
Placenta , Placentação , Gravidez , Ratos , Feminino , Animais , Humanos , Placenta/metabolismo , Placentação/genética , Trofoblastos , Útero , Linhagem da Célula/genética , Modelos Animais
11.
Chaos ; 33(12)2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38085231

RESUMO

In the last few decades, there has been much interest in studying piecewise differential systems. This is mainly due to the fact that these differential systems allow us to modelize many natural phenomena. In order to describe the dynamics of a differential system, we need to control its periodic orbits and, especially, its limit cycles. In particular, providing an upper bound for the maximum number of limit cycles that such differential systems can exhibit would be desirable, that is solving the extended 16th Hilbert problem. In general, this is an unsolved problem. In this paper, we give an upper bound for the maximum number of limit cycles that a class of continuous piecewise differential systems formed by an arbitrary linear center and an arbitrary quadratic center separated by a non-regular line can exhibit. So for this class of continuous piecewise differential systems, we have solved the extended 16th Hilbert problem, and the upper bound found is seven. The question whether this upper bound is sharp remains open.

12.
Actas urol. esp ; 47(10): 668-674, Dic. 2023. tab, graf
Artigo em Inglês, Espanhol | IBECS | ID: ibc-228318

RESUMO

Objetivo El objetivo de este trabajo es conocer experiencia inicial con la terapia térmica con vapor de agua (TTVA) para hiperplasia benigna de próstata (HBP) en los hospitales universitarios españoles, así como describir las diferencias en cuanto a técnica y seguimiento observadas entre los centros. Materiales y métodos Este estudio multicéntrico observacional retrospectivo recogió características basales, datos quirúrgicos, posoperatorios y seguimiento a los uno, tres, seis, 12 y 24 meses, incluyendo cuestionarios validados, variaciones flujométricas, complicaciones y la necesidad de tratamiento farmacológico y quirúrgico tras el procedimiento. También se analizaron los posibles desencadenantes de retención aguda de orina (RAO) en el posoperatorio. Resultados Se incluyeron un total de 105 pacientes. No se observaron diferencias entre los grupos con y sin RAO con respecto a tiempo de sondaje (cinco y 4,3 días respectivamente, p = 0,178), ni volumen prostático (47,9 y 41,4 g, respectivamente, p = 0,147). La mejoría media a los tres, seis, 12 y 24 meses en cuanto de flujo máximo fue de 5,3, 5,2, 4,2 y 3,8 mL/s, respectivamente. En cuanto a la eyaculación, se observa una mejoría en la misma a partir de los tres meses de seguimiento que se mantiene en el tiempo. Conclusiones El tratamiento mínimamente invasivo de HBP con TTVA presenta buenos resultados funcionales a 24 meses de seguimiento, sin afectación significativa de la función sexual y con una baja incidencia de complicaciones. Existen pequeñas variaciones principalmente en cuanto al posoperatorio inmediato entre los hospitales participantes en el estudio. (AU)


Aim The aim of this work is to evaluate the initial experience with water vapor thermal therapy (WVTT) for benign prostatic hyperplasia (BPH) in Spanish university hospitals, as well as to describe the differences in technique and follow-up between centers. Materials and Methods This retrospective observational multicenter study collected baseline characteristics, surgical, postoperative and follow-up data at 1, 3, 6, 12 and 24 months, including validated questionnaires, flowmetric variations, complications, and the need for pharmacological or surgical treatment following the procedure. Possible triggers for postoperative acute urinary retention (AUR) were also analyzed. Results A total of 105 patients were included. No differences were observed between the groups with and without AUR with respect to catheterization time (5 and 4.3 days respectively, p = 0.178), or prostate volume (47.9 gr and 41.4 gr respectively, p = 0.147). The mean improvement at 3, 6, 12 and 24 months in terms of peak flow was 5.3, 5.2, 4.2 and 3.8 ml/s, respectively. As for ejaculation, an improvement was observed after 3 months of follow-up and was maintained over time. Conclusions Minimally invasive treatment for BPH with WVTT shows good functional outcomes at 24 months follow-up, without significant impairment of sexual function and a low incidence of complications. There are minor inter-hospital variations, mainly in the immediate postoperative period. (AU)


Assuntos
Humanos , Masculino , Feminino , Hiperplasia Prostática/reabilitação , Hiperplasia Prostática/terapia , Estudos Multicêntricos como Assunto , Estudos Retrospectivos , Hiperplasia Prostática/tratamento farmacológico , Hiperplasia Prostática/cirurgia
13.
bioRxiv ; 2023 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-37873461

RESUMO

Male germ cell development is dependent on the orchestrated regulation of gene networks. TATA-box binding protein associated factors (TAFs) facilitate interactions of TATA-binding protein with the TATA element, which is known to coordinate gene transcription during organogenesis. TAF7 like (Taf7l) is situated on the X chromosome and has been implicated in testis development. We examined the biology of TAF7L in testis development using the rat. Taf7l was prominently expressed in preleptotene to leptotene spermatocytes. To study the impact of TAF7L on the testis we generated a global loss-of-function rat model using CRISPR/Cas9 genome editing. Exon 3 of the Taf7l gene was targeted. A founder was generated possessing a 110 bp deletion within the Taf7l locus, which resulted in a frameshift and the premature appearance of a stop codon. The mutation was effectively transmitted through the germline. Deficits in TAF7L did not adversely affect pregnancy or postnatal survival. However, the Taf7l disruption resulted in male infertility due to compromised testis development and failed sperm production. Mutant germ cells suffer meiotic arrest at the zygotene stage, with defects in sex body formation and meiotic sex chromosome inactivation. This testis phenotype was more pronounced than previously described for the subfertile Taf7l null mouse. We conclude that TAF7L is essential for male germ cell development in the rat.

14.
Med. intensiva (Madr., Ed. impr.) ; 47(9): 501-515, sept. 2023. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-225271

RESUMO

Objetivo: Diseñar un indicador de mortalidad del síndrome coronario agudo (SCA) en el servicio de medicina intensiva (SMI). Diseño: Estudio descriptivo observacional multicéntrico. Participantes: Pacientes con SCA ingresados en SMI incluidos en el registro ARIAM- SEMICYUC entre enero del 2013 y abril del 2019. Intervenciones: Ninguna. Variables de interés principales: Las variables analizadas fueron demográficas, tiempo de acceso al sistema sanitario y estado clínico. Se analizó la terapia de revascularización, los fármacos y la mortalidad. Se realizó un análisis de regresión logística de COX y posteriormente se diseñó una red neuronal. Se elaboró una curva ROC para calcula la potencia del nuevo score. Finalmente, la utilidad clínica o relevancia del indicador ARIAM se evaluará mediante un gráfico de Fagan. Resultados: Se incluyó a 17.258 pacientes, con una mortalidad al alta del SMI del 3,5% (605). Las variables analizadas con significación estadística (p<0,001) fueron introducidas en el modelo predictivo supervisado, una red neuronal artificial. El nuevo indicador ARIAM mostro una media de 0,0257 (IC del 95%, 0,0245-0,0267) en los pacientes dados de alta de UCI y de 0,27085 (IC del 95%, 0,2533-0,2886) en los que fallecieron, p <0,001. El área ROC del modelo conseguido fue de 0,918 (IC del 95%, 0,907-0,930). En el test de Fagan se demostró que el indicador ARIAM muestra que la probabilidad de fallecimiento es del 19% (IC del 95%, 18-20%) cuando es positivo y del 0,9% (IC del 95%, 0,8-1,01%) cuando es negativo. Conclusiones: Es posible crear un nuevo indicador de mortalidad del SCA en el SMI que sea más exacto, reproducible y actualizable periódicamente. (AU)


Objective: To design a mortality indicator for acute coronary syndrome (ACS) in the intensive care unit (ICU). Design: Multicenter observational descriptive study. Participants: ACS patients admitted to SMI included in the ARIAM-SEMICYUC registry between January 2013 and April 2019. Interventions: None. Main variables of interest: Variables analyzed were demographic, time of access to the health system, and clinical condition. Revascularization therapy, drugs, and mortality were analyzed. A COX regression analysis was performed and subsequently a neural network was designed. An ROC curve was developed to calculate the power of the new score. Finally, the clinical utility or relevance of the ARIAM's indicator will be evaluated using a Fagan test. Results: 17,258 patients were included, with a 3.5% (605) mortality at discharge from the ICU. The variables analyzed with statistical significance (p<0.001) were entered into the supervised predictive model, an artificial neural network. The new ARIAM's indicator showed a mean of 0.0257 (95% CI: 0.0245–0.0267) in patients discharged from the ICU and 0.27085 (95% CI: 0.2533–0.2886) in those who died, p<0.001. The ROC area of the model achieved was 0.918 (95% CI: 0.907–0.930). The Fagan test showed that the ARIAM's Indicator shows that the probability of death is 19% (95% CI: 18%–20%) when it is positive and 0.9% (95% CI: 0.8%–1.01%) when it is negative. Conclusions: It is possible to create a new mortality indicator for ACS in the ICU that is more accurate, reproducible, and periodically updated. (AU)


Assuntos
Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Unidades de Terapia Intensiva , Síndrome Coronariana Aguda/mortalidade , Epidemiologia Descritiva , Indicadores de Morbimortalidade , Espanha
15.
bioRxiv ; 2023 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-37577576

RESUMO

Placental development involves coordinated expansion and differentiation of trophoblast cell lineages possessing specialized functions. Among the differentiated trophoblast cell lineages are invasive trophoblast cells, which exit the placenta and invade into the uterus where they restructure the uterine parenchyma and facilitate remodeling of uterine spiral arteries. The rat exhibits deep intrauterine trophoblast cell invasion, a feature shared with human placentation, and is also amenable to gene manipulation using genome editing techniques. In this investigation, we generated a conditional rat model targeting the invasive trophoblast cell lineage. Prolactin family 7, subfamily b, member 1 ( Prl7b1 ) is uniquely and abundantly expressed in the rat invasive trophoblast cell lineage. Disruption of Prl7b1 did not adversely affect placental development. We demonstrated that the Prl7b1 locus could be effectively used to drive the expression of Cre recombinase in invasive trophoblast cells. Our rat model represents a new tool for investigating candidate genes contributing to the regulation of invasive trophoblast cells and their contributions to trophoblast-guided uterine spiral artery remodeling.

16.
Medicina (B Aires) ; 83(4): 505-513, 2023.
Artigo em Espanhol | MEDLINE | ID: mdl-37582124

RESUMO

INTRODUCTION: Molecular alterations in follicular cells in the BRAF or NRAS genes have been reported to be associated with the process of carcinogenesis. Our aim was to determine the mutational frequency of BRAF and NRAS in fine-needle aspiration (FNA) specimens in our population. METHODS: The mutational status of BRAF (codon 600) and NRAS (codon 61) was analysed by qPCR in 193 FNA specimens from suspicious nodules and compared with pathological data of 115 patients. RESULTS: BRAF mutation was identified in 40 samples (74.1%) of FNAs classified as Bethesda VI (n = 54). In samples histologically diagnosed as classic papillary thyroid carcinoma (cPTC, n = 47), mutation was observed in 70% of cases, while in other subtypes the prevalence was lower (p = 0.013). In FNA specimens of follicular lesions (n = 36), positivity for NRAS was found in 50% of the follicular carcinomas (FTCs), but only in 6.7% of adenomas. Finally, there was a significant correlation between BRAF and PTC with lymph-node metastasis (p = 0.014) and increased relative risk of recurrence based on the Argentine Intersociety Consensus (RR = 6.77, p = 0.022). No significant differences were found between BRAF mutation and other features of aggressiveness in PTC. CONCLUSION: BRAF and NRAS mutations are observed in a significant number of PTCs and FTCs, in our population. There is a significant correlation between BRAF mutation and lymph-node metastasis.


Introducción: Se ha descrito que alteraciones moleculares de las células foliculares tiroideas en el gen BRAF o en NRAS están asociadas con el proceso de carcinogénesis. Nuestro objetivo fue conocer la frecuencia mutacional de BRAF y NRAS a partir de muestras de punción aspirativa con aguja fina (PAAF) en nuestra población. Métodos: Se analizó por qPCR el estado mutacional de BRAF (codón 600) y NRAS (codón 61) de 193 muestras obtenidas por PAAF de nódulos sospechosos y se comparó con los datos de la anatomía patológica de 115 pacientes. Resultados: La mutación BRAF se identificó en 40 muestras (74.1%) de las punciones categorizadas como Bethesda VI (n = 54). En las muestras que se correspondieron con carcinoma papilar de tiroides (CPT) variante clásica por histología (n = 47), el 70% presentó la mutación, mientras que en los otros subtipos la prevalencia fue más baja (p = 0.013). En muestras de lesión folicular (n = 36), el 50% de los carcinomas foliculares resultaron positivos para NRAS pero solo el 6.7% de los adenomas presentaron esta variación. La presencia de mutación BRAF y CPT se asociaron con metástasis en los ganglios linfáticos (p = 0.014) y mayor riesgo relativo de recurrencia según el Consenso Argentino Intersocietario (RR = 6.77, p = 0.022). No hubo diferencias significativas entre la mutación de BRAF y otras características de agresividad en CPT. Conclusión: La mutación de BRAF y NRAS se observa en un número significativo de CPT y carcinoma folicular, respectivamente, en nuestra población. La mutación BRAF se correlaciona significativamente con metástasis en los ganglios linfáticos.


Assuntos
Carcinoma Papilar , Neoplasias da Glândula Tireoide , Humanos , Proteínas Proto-Oncogênicas B-raf/genética , Metástase Linfática , Argentina , Análise Mutacional de DNA , Neoplasias da Glândula Tireoide/patologia , Mutação , Códon , Proteínas de Membrana/genética , GTP Fosfo-Hidrolases/genética
17.
Nat Commun ; 14(1): 4826, 2023 08 10.
Artigo em Inglês | MEDLINE | ID: mdl-37563143

RESUMO

The extravillous trophoblast cell lineage is a key feature of placentation and successful pregnancy. Knowledge of transcriptional regulation driving extravillous trophoblast cell development is limited. Here, we map the transcriptome and epigenome landscape as well as chromatin interactions of human trophoblast stem cells and their transition into extravillous trophoblast cells. We show that integrating chromatin accessibility, long-range chromatin interactions, transcriptomic, and transcription factor binding motif enrichment enables identification of transcription factors and regulatory mechanisms critical for extravillous trophoblast cell development. We elucidate functional roles for TFAP2C, SNAI1, and EPAS1 in the regulation of extravillous trophoblast cell development. EPAS1 is identified as an upstream regulator of key extravillous trophoblast cell transcription factors, including ASCL2 and SNAI1 and together with its target genes, is linked to pregnancy loss and birth weight. Collectively, we reveal activation of a dynamic regulatory network and provide a framework for understanding extravillous trophoblast cell specification in trophoblast cell lineage development and human placentation.


Assuntos
Cromatina , Trofoblastos , Gravidez , Feminino , Humanos , Trofoblastos/metabolismo , Cromatina/genética , Cromatina/metabolismo , Placentação/genética , Diferenciação Celular/genética , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , Linhagem da Célula/genética , Placenta/metabolismo , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo
18.
Medicina (B.Aires) ; 83(4): 505-513, ago. 2023. graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1514508

RESUMO

Resumen Introducción : Se ha descrito que alteraciones molecu lares de las células foliculares tiroideas en el gen BRAF o en NRAS están asociadas con el proceso de carcinogé nesis. Nuestro objetivo fue conocer la frecuencia muta cional de BRAF y NRAS a partir de muestras de punción aspirativa con aguja fina (PAAF) en nuestra población. Métodos : Se analizó por qPCR el estado mutacional de BRAF (codón 600) y NRAS (codón 61) de 193 mues tras obtenidas por PAAF de nódulos sospechosos y se comparó con los datos de la anatomía patológica de 115 pacientes. Resultados : La mutación BRAF se identificó en 40 muestras (74.1%) de las punciones categorizadas como Bethesda VI (n = 54). En las muestras que se correspon dieron con carcinoma papilar de tiroides (CPT) variante clásica por histología (n = 47), el 70% presentó la muta ción, mientras que en los otros subtipos la prevalencia fue más baja (p = 0.013). En muestras de lesión folicular (n = 36), el 50% de los carcinomas foliculares resultaron positivos para NRAS pero solo el 6.7% de los adenomas presentaron esta variación. La presencia de mutación BRAF y CPT se asociaron con metástasis en los gan glios linfáticos (p = 0.014) y mayor riesgo relativo de recurrencia según el Consenso Argentino Intersocietario (RR = 6.77, p = 0.022). No hubo diferencias significativas entre la mutación de BRAF y otras características de agresividad en CPT. Conclusión : La mutación de BRAF y NRAS se observa en un número significativo de CPT y carcinoma folicular, respectivamente, en nuestra población. La mutación BRAF se correlaciona significativamente con metástasis en los ganglios linfáticos.


Abstract Introduction : Molecular alterations in follicular cells in the BRAF or NRAS genes have been reported to be associated with the process of carcinogenesis. Our aim was to determine the mutational frequency of BRAF and NRAS in fine-needle aspiration (FNA) specimens in our population. Methods : The mutational status of BRAF (codon 600) and NRAS (codon 61) was analysed by qPCR in 193 FNA specimens from suspicious nodules and compared with pathological data of 115 patients. Results : BRAF mutation was identified in 40 samples (74.1%) of FNAs classified as Bethesda VI (n = 54). In samples histologically diagnosed as classic papillary thyroid carcinoma (cPTC, n = 47), mutation was observed in 70% of cases, while in other subtypes the prevalence was lower (p = 0.013). In FNA specimens of follicular lesions (n = 36), positivity for NRAS was found in 50% of the follicular carcinomas (FTCs), but only in 6.7% of adenomas. Finally, there was a significant correlation between BRAF and PTC with lymph-node metastasis (p = 0.014) and increased relative risk of recurrence based on the Argentine Intersociety Consensus (RR = 6.77, p = 0.022). No significant differences were found between BRAF mutation and other features of aggressiveness in PTC. Conclusion : BRAF and NRAS mutations are observed in a significant number of PTCs and FTCs, in our popu lation. There is a significant correlation between BRAF mutation and lymph-node metastasis.

19.
Actas Urol Esp (Engl Ed) ; 47(10): 668-674, 2023 Dec.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37423384

RESUMO

AIM: The aim of this work is to evaluate the initial experience with water vapor thermal therapy (WVTT) for benign prostatic hyperplasia (BPH) in Spanish university hospitals, as well as to describe the differences in technique and follow-up between centers. MATERIALS AND METHODS: This retrospective observational multicenter study collected baseline characteristics, surgical, postoperative and follow-up data at 1, 3, 6, 12 and 24 months, including validated questionnaires, flowmetric variations, complications, and the need for pharmacological or surgical treatment following the procedure. Possible triggers for postoperative acute urinary retention (AUR) were also analyzed. RESULTS: A total of 105 patients were included. No differences were observed between the groups with and without AUR with respect to catheterization time (5 and 4.3 days respectively, P=.178), or prostate volume (47.9g and 41.4g respectively, P=.147). The mean improvement at 3, 6, 12 and 24 months in terms of peak flow was 5.3, 5.2, 4.2 and 3.8ml/s, respectively. As for ejaculation, an improvement was observed after 3 months of follow-up and was maintained over time. CONCLUSIONS: Minimally invasive treatment for BPH with WVTT shows good functional outcomes at 24 months follow-up, without significant impairment of sexual function and a low incidence of complications. There are minor inter-hospital variations, mainly in the immediate postoperative period.


Assuntos
Hiperplasia Prostática , Masculino , Humanos , Hiperplasia Prostática/complicações , Hiperplasia Prostática/cirurgia , Seguimentos , Vapor , Resultado do Tratamento , Estudos Retrospectivos , Complicações Pós-Operatórias/epidemiologia , Hospitais
20.
Artigo em Inglês | MEDLINE | ID: mdl-37517951

RESUMO

BACKGROUND: Cardiovascular disease (CVD) is one of the principal causes of death in antineutrophil cytoplasmic antibody-(ANCA)-associated vasculitis (AAV). OBJECTIVES: To evaluate the mortality and it's causes and CVD and its vascular risk factors (VRFs) in AAV patients in Andalusia. METHODS: A multicenter cohort of 220 AAV patients followed-up from 1979 until June 2020 was studied in Andalussia, south of Spain. The information, including socio-demographic and clinical data was recorded retrospectively through chart review. Data was analysed using Chi2, ANOVA and Cox proportional hazards regresion as uni and multivariate test with a 95% confidence interval (CI). RESULTS: During a mean ± standard deviation follow-up of 96.79 ± 75.83 months, 51 patients died and 30 presented at least one CVE. Independent prognostic factors of mortality were age (HR 1.083, p=0.001) and baseline creatinine (HR 4.41, p=0.01). Independent prognostic factors of CVE were age [hazard ratio (HR) 1.042, p=0.005] and the presence of hypertension (HTN) six months after diagnosis (HR 4.641, p=0.01). HTN, diabetes and renal failure, all of these important VRFs, are more prevalent in AAV patients than it is described in matched general population. CONCLUSIONS: Age and baseline renal function, but not CVEs, are predictors of mortality and age and early HTN are independent predictors for having a CVE. CVD screening in AAV patients is demanded.

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