bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Novel Mutation in the FSH Receptor (I423T) Affecting Receptor Activation and Leading to Primary Ovarian Failure
Authors: Zariñán Teresa , Mayorga Julio , Jardón-Valadez Eduardo , Gutiérrez-Sagal Rubén , Maravillas-Montero José Luis , Mejía-Domínguez Nancy R , Martínez-Luis Iván , Yacini-Torres Omar G , Cravioto Ma-del-Carmen , Reiter Eric , Ulloa-Aguirre Alfredo 
Published: October 2020

AbstractContextFollicle-stimulating hormone (FSH) plays an essential role in gonadal function. Loss-of-function mutations in the follicle-stimulating hormone receptor (FSHR) are an infrequent cause of primary ovarian failure.ObjectiveTo analyze the molecular physiopathogenesis of a novel mutation in the FSHR identified in a woman with primary ovarian failure, employing in vitro and in silico approaches, and to compare the features of this dysfunctional receptor with those shown by the trafficking-defective D408Y FSHR mutant.MethodsSanger sequencing of the FSHR cDNA was applied to identify the novel mutation. FSH-stimulated cyclic adenosine monophosphate (cAMP) production, ERK1/2 phosphorylation, and desensitization were tested in HEK293 cells. Receptor expression was analyzed by immunoblotting, receptor-binding assays, and flow cytometry. Molecular dynamics simulations were performed to determine the in silico behavior of the mutant FSHRs.ResultsA novel missense mutation (I423T) in the second transmembrane domain of the FSHR was identified in a woman with normal pubertal development but primary amenorrhea. The I423T mutation slightly impaired plasma membrane expression of the mature form of the receptor and severely impacted on cAMP/protein kinase A signaling but much less on β-arrestin-dependent ERK1/2 phosphorylation. Meanwhile, the D408Y mutation severely affected membrane expression, with most of the FSH receptor located intracellularly, and both signal readouts tested. Molecular dynamics simulations revealed important functional disruptions in both mutant FSHRs, mainly the loss of interhelical connectivity in the D408Y FSHR.ConclusionsConcurrently, these data indicate that conformational differences during the inactive and active states account for the distinct expression levels, differential signaling, and phenotypic expression of the I423T and D408Y mutant FSHRs.
Volumetric Modeling of Adrenal Gland Size in Primary Bilateral Macronodular Adrenocortical Hyperplasia
Authors: Wurth Rachel , Tirosh Amit , Kamilaris Crystal D C , Camacho Jancarlos , Faucz Fabio R , Maria Andrea Gutierrez , Berthon Annabel , Papadakis Georgios Z , Nilubol Naris , Hamimi Ahmed , Gharib Ahmed M , Demidowich Andrew , Zilbermint Mihail , Eisenhofer Graeme , Braun Leah , Reincke Martin , Stratakis Constantine A , Hannah-Shmouni Fady 
Published: October 2020

Abstract

Context
Radiological characterization of adrenal size in primary bilateral macronodular adrenocortical hyperplasia (PBMAH) has not been previously investigated.

Objective
We hypothesized that volumetric modeling of adrenal gland size may correlate with biochemical disease severity in patients with PBMAH. Secondary analysis of patients with concurrent primary aldosteronism (PA) was performed.

Design
A retrospective cross-sectional analysis of 44 patients with PBMAH was conducted from 2000 to 2019.

Setting
Tertiary care clinical research center.

Patients
Patients were diagnosed with PBMAH based upon clinical, genetic, radiographic and biochemical characteristics.

Intervention
Clinical, biochemical, and genetic data were obtained. Computed tomography scans were used to create volumetric models by manually contouring both adrenal glands in each slice using Vitrea Core Fx v6.3 software (Vital Images, Minnetonka, Minnesota).

Main Outcome and Measures
17-hydroxycorticosteroids (17-OHS), ARMC5 genetics, and aldosterone-to-renin ratio (ARR) were retrospectively obtained. Pearson test was used for correlation analysis of biochemical data with adrenal volume.

Results
A cohort of 44 patients with PBMAH was evaluated, with a mean age (±SD) of 53 ± 11.53. Eight patients met the diagnostic criteria for PA, of whom 6 (75%) were Black. In the Black cohort, total adrenal volumes positively correlated with midnight cortisol (R = 0.76, P = 0.028), urinary free cortisol (R = 0.70, P = 0.035), and 17-OHS (R = 0.87, P = 0.0045), with a more pronounced correlation with left adrenal volume alone. 17-OHS concentration positively correlated with total, left, and right adrenal volume in patients harboring pathogenic variants in ARMC5 (R = 0.72, P = 0.018; R = 0.65, P = 0.042; and R = 0.73, P = 0.016, respectively).

Conclusions
Volumetric modeling of adrenal gland size may associate with biochemical severity in patients with PBMAH, with particular utility in Black patients.
Trans | Acker
Authors: Wark McKenzie 
Published: October 2020

Abstract
The writer Kathy Acker (1947–97) is one of those few in the anglophone canon, or even near it, who opens a space for trans experiences. If trans literature, and literary studies, is to widen their ambits of aesthetic operation, one useful step would be to expand the critical study and literary experiment with such writers. The “Trans | Acker Symposium” at The New School in 2019 was a modest contribution to this project. This text introduces Acker and three of the texts from that event.
Building the Pirate Body
Authors: Trieu K. K. 
Published: October 2020

Abstract
When Kathy Acker writes about the body, it is frequently subjected to self-abnegation; there is a sense that the cohesion of self and body hangs on complete destruction and rebirth in terms of its material reality. The figure of the Pirate is an avatar through which Acker explores these tensions, particularly as they relate to her experience of femininity and gender, which, in many ways, aligns with experiences of gender dysphoria. In negotiating the ways in which she would like to be desired with the feminist knowledge that influenced her thought, Acker lays out a path in which the dysphoric body that is assigned female at birth may occupy a third space outside the gender binary. This article puts Acker's writing on the Pirate in dialog with Georges Bataille's figure of the Acéphale to explore the system of knowledge that comes from this subject—one whose articulation is in constant regeneration.
The interaction of obesity and craniofacial deformity in obstructive sleep apnea
Authors: Huang Liping , Gao Xuemei 
Published: October 2020

Objective: Both obesity and craniofacial deformity are important etiologies of obstructive sleep apnea (OSA). The present research aimed to explore their interaction and different impacts on OSA severity. Methods: A total of 207 consecutive OSA patients (169 males, 38 females) were included in the research. Based on the body mass index (BMI) value, patients were divided into 77 normal-weight patients (BMI <24 kg m−2), 105 overweight patients (24 ≤ BMI<28 kg m−2) and 26 obese patients (BMI ≥28 kg m−2). All accepted overnight polysomnography and standard lateral cephalogram. Cephalometric measurements involved 25 cephalometric variables. The correlations between these cephalometric variables, BMI and the apnea-hypopnea index (AHI) were evaluated. Results: For the whole sample after controlling for gender and age, stepwise regression analysis showed that the factors affecting AHI were increased BMI, narrowing posterior airway space, inferior displacement of hyoid and elongation of the tongue. When grouped by BMI, normal-weight group exhibited with more reduced maxillary length and mandible length, and steeper mandible plane than overweight and obese patients (p < 0.0167). Obese group showed least skeletal restriction and most prominent soft tissues enlargement (p < 0.0167). However, these skeletal indexes were not statistically correlated with AHI. Conclusions: Obesity and skeletal malformations were both etiological factors of OSA, but obesity seemed to have a greater influence on AHI severity in all kinds of obese and thin OSA patients. Only in normal-weight group, it was affected by both cephalometric variables and BMI.
External validation of ELASTIC NET regression models including newborn metabolomic markers for postnatal gestational age estimation in East and South-East Asian infants
Authors: Hawken Steven , Murphy Malia S. Q. , Ducharme Robin , Bota A. Brianne , Wilson Lindsay A. , Cheng Wei , Tumulak Ma-Am Joy , Alcausin Maria Melanie Liberty , Reyes Ma Elouisa , Qiu Wenjuan , Potter Beth K. , Little Julian , Walker Mark , Zhang Lin , Padilla Carmencita , Chakraborty Pranesh , Wilson Kumanan 
Published: October 2020

Background: Postnatal gestational age (GA) algorithms derived from newborn metabolic profiles have emerged as a novel method of acquiring population-level preterm birth estimates in low resource settings. To date, model development and validation have been carried out in North American settings. Validation outside of these settings is warranted. Methods: This was a retrospective database study using data from newborn screening programs in Canada, the Philippines and China. ELASTICNET machine learning models were developed to estimate GA in a cohort of infants from Canada using sex, birth weight and metabolomic markers from newborn heel prick blood samples. Final models were internally validated in an independent group of infants, and externally validated in cohorts of infants from the Philippines and China. Results: Cohorts included 39,666 infants from Canada, 82,909 from the Philippines and 4,448 from China. For the full model including sex, birth weight and metabolomic markers, GA estimates were within 5 days of ultrasound values in the Canadian internal validation (mean absolute error (MAE) 0.71, 95% CI: 0.71, 0.72), and within 6 days of ultrasound GA in both the Filipino (0.90 (0.90, 0.91)) and Chinese cohorts (0.89 (0.86, 0.92)). Despite the decreased accuracy in external settings, our models incorporating metabolomic markers performed better than the baseline model, which relied on sex and birth weight alone. In preterm and growth-restricted infants, the accuracy of metabolomic models was markedly higher than the baseline model. Conclusions: Accuracy of metabolic GA algorithms was attenuated when applied in external settings. Models including metabolomic markers demonstrated higher accuracy than models using sex and birth weight alone. As innovators look to take this work to scale, further investigation of modeling and data normalization techniques will be needed to improve robustness and generalizability of metabolomic GA estimates in low resource settings, where this could have the most clinical utility.
A multi-terawatt two-color beam for high-power field-controlled nonlinear optics
Authors: Edwards M. R. , Fasano N. M. , Bennett T. , Griffith A. , Turley N. , O’Brien B. M. , Mikhailova J. M. 
Published: October 2020

Two-color laser beams are instrumental in light-field control and enhancement of high-order harmonic, spectral supercontinuum, and terahertz radiation generated in gases, plasmas, and solids. We demonstrate a multi-terawatt two-color beam produced using a relativistic plasma mirror, with 110 mJ at 800 nm and 30 mJ at 400 nm. Both color components have high spatial quality and can be simultaneously focused, provided that the plasma mirror lies within a Rayleigh range of the driving fundamental beam. Favorable scaling of second-harmonic generation by plasma mirrors at relativistic intensities suggests them as an excellent tool for multi-color waveform synthesis beyond the petawatt level.
Micrometer-accuracy 2D displacement interferometer with plasmonic metasurface resonators
Authors: Guo Chuanrui , Zhang Yuchao , Klegseth Matthew , Gao Jie , Chen Genda 
Published: October 2020

In this Letter, a high-accuracy, two-dimensional displacement sensor is proposed, designed, and demonstrated based on the concept of an extrinsic Fabry–Perot Interferometer. The sensor is composed of two bundled single-mode optic fibers in parallel and two plasmonic metasurface resonators inscribed on a gold substrate via a focused ion beam. The fiber end surface and the metasurface are in parallel with a small cavity between. The cavity change or

Z

-component displacement is determined from the pattern of interference fringes. The

X

-component displacement, perpendicular to the

Z

component, is identified from wavelength-selective metasurface resonators, which possess unique resonant wavelengths due to different nanostructure designs. The sensor was calibrated with six displacements applied through a three-axis precision linear stage. Test results indicated that the proposed interferometer can measure displacements with a maximum error of 5.4 µm or 2.2%.
Otros escenarios de la «hora navarra»: la ciudad de Corella y la familia Sesma (1630-1793)
Authors: Zabalza Seguín Ana 
Published: October 2020

Desde que Caro Baroja acuñara la expresión «hora navarra» para referirse al encumbramiento en la corte de hombres de negocios de esa procedencia a finales del XVII, numerosos trabajos han profundizado en tales trayectorias, en particular las de los baztaneses. Mi objetivo es presentar otro escenario en el mismo reino, origen también de exitosas carreras, pero con un entorno muy diferente: la ciudad de Corella, y en ella, la familia Sesma. Se describen algunos rasgos que definen la situación de Navarra tras su incorporación a Castilla. Con ayuda de la valoración de bienes de 1607 se trata de responder a la pregunta de cuál pudo ser la fuente primera de acumulación de capital que permitiera iniciar el despegue; el resultado apunta a que, además del comercio de la lana y del vino, pudo tener importancia el cáñamo, lo que además explicaría la vinculación de esta familia con la Marina. Su relación con Goyeneche justificaría su servicio a distintos miembros de la familia real. A mediados del XVIII los Sesma, ya encumbrados, abandonan la actividad comercial y Corella.
Pandemia e educação superior no Brasil
Authors: Mancebo Deise 
Published: October 2020

O texto discute os impactos da pandemia da Covid 19 na educação superior brasileira. Para a apreensão da temática, ancora-se numa investigação de caráter exploratório, que contemplou pesquisa bibliográfica, levantamentos sistemáticos na imprensa alternativa e análise documental de problemáticas convergentes e necessárias à compreensão do tema, mas também na consulta de dados agregados já existentes, adotando, portanto, uma perspectiva de análise que conjuga, a um só tempo, aspectos quantitativos e qualitativos. Segue, em linhas gerais, o seguinte plano: primeiramente, busca analisar a situação política e econômica na qual se encontrava o país, quando da chegada da pandemia da Covid 19, por considerar que os impactos econômicos e sanitários da propagação do vírus dependiam de fendas e vulnerabilidades preexistentes. Analisa as particularidades do enfrentamento da pandemia no Brasil, com especial destaque ao negacionismo em relação aos preceitos sanitários e científicos, que tem caracterizado o bolsonarismo. Adentra, então, no universo da educação superior, organizando os argumentos a partir da análise de dois eixos, considerados centrais para essa discussão: os impactos do ultraneoliberalismo e do neoconservadorismo nas instituições de educação superior brasileiras. Após essas considerações, apresenta o que, de fato, mudou com a chegada da pandemia nas instituições e os horizontes que se descortinam para elas.
Differential Encoding of Predator Fear in the Ventromedial Hypothalamus and Periaqueductal Grey
Authors: Esteban Masferrer Maria , Silva Bianca A. , Nomoto Kensaku , Lima Susana Q. , Gross Cornelius T. 
Published: October 2020

The ventromedial hypothalamus is a central node of the mammalian predator defense network. Stimulation of this structure in rodents and primates elicits abrupt defensive responses, including flight, freezing, sympathetic activation, and panic, while inhibition reduces defensive responses to predators. The major efferent target of the ventromedial hypothalamus is the dorsal periaqueductal gray (dPAG), and stimulation of this structure also elicits flight, freezing, and sympathetic activation. However, reversible inhibition experiments suggest that the ventromedial hypothalamus and periaqueductal gray play distinct roles in the control of defensive behavior, with the former proposed to encode an internal state necessary for the motivation of defensive responses, while the latter serves as a motor pattern initiator. Here, we used electrophysiological recordings of single units in behaving male mice exposed to a rat to investigate the encoding of predator fear in the dorsomedial division of the ventromedial hypothalamus (VMHdm) and the dPAG. Distinct correlates of threat intensity and motor responses were found in both structures, suggesting a distributed encoding of sensory and motor features in the medial hypothalamic-brainstem instinctive network.SIGNIFICANCE STATEMENTAlthough behavioral responses to predatory threat are essential for survival, the underlying neuronal circuits remain undefined. Using single unitin vivoelectrophysiological recordings in mice, we have identified neuronal populations in the medial hypothalamus and brainstem that encode defensive responses to a rat predator. We found that both structures encode both sensory as well as motor aspects of the behavior although with different kinetics. Our findings provide a framework for understanding how innate sensory cues are processed to elicit adaptive behavioral responses to threat and will help to identify targets for the pharmacological modulation of related pathologic behaviors.
Synaptic Organization of Anterior Olfactory Nucleus Inputs to Piriform Cortex
Authors: Russo Marco J. , Franks Kevin M. , Oghaz Roxanne , Axel Richard , Siegelbaum Steven A. 
Published: October 2020

Odors activate distributed ensembles of neurons within the piriform cortex, forming cortical representations of odor thought to be essential to olfactory learning and behaviors. This odor response is driven by direct input from the olfactory bulb, but is also shaped by a dense network of associative or intracortical inputs to piriform, which may enhance or constrain the cortical odor representation. With optogenetic techniques, it is possible to functionally isolate defined inputs to piriform cortex and assess their potential to activate or inhibit piriform pyramidal neurons. The anterior olfactory nucleus (AON) receives direct input from the olfactory bulb and sends an associative projection to piriform cortex that has potential roles in the state-dependent processing of olfactory behaviors. Here, we provide a detailed functional assessment of the AON afferents to piriform in male and female C57Bl/6J mice. We confirm that the AON forms glutamatergic excitatory synapses onto piriform pyramidal neurons; and while these inputs are not as strong as piriform recurrent collaterals, they are less constrained by disynaptic inhibition. Moreover, AON-to-piriform synapses contain a substantial NMDAR-mediated current that prolongs the synaptic response at depolarized potentials. These properties of limited inhibition and slow NMDAR-mediated currents result in strong temporal summation of AON inputs within piriform pyramidal neurons, and suggest that the AON could powerfully enhance activation of piriform neurons in response to odor.SIGNIFICANCE STATEMENTOdor information is transmitted from olfactory receptors to olfactory bulb, and then to piriform cortex, where ensembles of activated neurons form neural representations of the odor. While these ensembles are driven by primary bulbar afferents, and shaped by intracortical recurrent connections, the potential for another early olfactory area, the anterior olfactory nucleus (AON), to contribute to piriform activity is not known. Here, we use optogenetic circuit-mapping methods to demonstrate that AON inputs can significantly activate piriform neurons, as they are coupled to NMDAR currents and to relatively modest disynaptic inhibition. The AON may enhance the piriform odor response, encouraging further study to determine the states or behaviors through which AON potentiates the cortical response to odor.
Low-Level Visual Information Is Maintained across Saccades, Allowing for a Postsaccadic Handoff between Visual Areas
Authors: Fabius Jasper H. , Fracasso Alessio , Acunzo David J. , Van der Stigchel Stefan , Melcher David 
Published: October 2020

Experience seems continuous and detailed despite saccadic eye movements changing retinal input several times per second. There is debate whether neural signals related to updating across saccades contain information about stimulus features, or only location pointers without visual details. We investigated the time course of low-level visual information processing across saccades by decoding the spatial frequency of a stationary stimulus that changed from one visual hemifield to the other because of a horizontal saccadic eye movement. We recorded magnetoencephalography while human subjects (both sexes) monitored the orientation of a grating stimulus, making spatial frequency task irrelevant. Separate trials, in which subjects maintained fixation, were used to train a classifier, whose performance was then tested on saccade trials. Decoding performance showed that spatial frequency information of the presaccadic stimulus remained present for ∼200 ms after the saccade, transcending retinotopic specificity. Postsaccadic information ramped up rapidly after saccade offset. There was an overlap of over 100 ms during which decoding was significant from both presaccadic and postsaccadic processing areas. This suggests that the apparent richness of perception across saccades may be supported by the continuous availability of low-level information with a “soft handoff” of information during the initial processing sweep of the new fixation.SIGNIFICANCE STATEMENTSaccades create frequent discontinuities in visual input, yet perception appears stable and continuous. How is this discontinuous input processed resulting in visual stability? Previous studies have focused on presaccadic remapping. Here we examined the time course of processing of low-level visual information (spatial frequency) across saccades with magnetoencephalography. The results suggest that spatial frequency information is not predictively remapped but also is not discarded. Instead, they suggest a soft handoff over time between different visual areas, making this information continuously available across the saccade. Information about the presaccadic stimulus remains available, while the information about the postsaccadic stimulus has also become available. The simultaneous availability of both the presaccadic and postsaccadic information could enable rich and continuous perception across saccades.
La construcción de los derechos sociales, desde la privación legal de la libertad en América Latina
Authors: Rumbo Bonfil Cristina 
Published: October 2020

La identificación y construcción de los derechos sociales aplicables al derecho ejecutivo penal, obedece a la falta de una tradición jurídica que omite y restringe la aplicación efectiva de los derechos de las personas privadas de la libertad, pues no sólo se trata de las violaciones en materia de derechos humanos o su inobservancia, sino en la omisión normativa de todos los derechos que no son privativos de la conducta antijurídica y que no corresponden a una aplicación práctica que coadyuve con la configuración del cumplimiento de la función ius puniendi del estado y de la pena en sí misma, y que es la reinserción social.