bluuebunny/crossref_metadata_2025_split huggingface dataset:
Estrogen Receptor α Inactivation in 2 Sisters: Different Phenotypic Severities for the Same Pathogenic Variant
Authors: Delcour Clémence , Khawaja Nahla , Gonzalez-Duque Sergio , Lebon Sophie , Talbi Abir , Drira Leila , Chevenne Didier , Ajlouni Kamel , de Roux Nicolas 
Published: February 2022

Abstract

Context
Estrogens play an essential role in reproduction. Their action is mediated by nuclear α and β receptors (ER) and by membrane receptors. Only 3 females and 2 males, from 3 families, with a loss of ERα function have been reported to date.

Objective
We describe here a new family, in which 2 sisters display endocrine and ovarian defects of different severities despite carrying the same homozygous rare variant of ESR1.

Methods
A 36-year-old woman from a consanguineous Jordanian family presented with primary amenorrhea and no breast development, with high plasma levels of 17β-estradiol (E2), follicle-stimulating hormone and luteinizing hormone, and enlarged multifollicular ovaries, strongly suggesting estrogen resistance. Her 18-year-old sister did not enter puberty and had moderately high levels of E2, high plasma gonadotropin levels, and normal ovaries.

Results
Genetic analysis identified a homozygous variant of ESR1 leading to the replacement of a highly conserved glutamic acid with a valine (ERα-E385V). The transient expression of ERα-E385V in HEK293A and MDA-MB231 cells revealed highly impaired ERE-dependent transcriptional activation by E2. The analysis of the KISS1 promoter activity revealed that the E385V substitution induced a ligand independent activation of ERα. Immunofluorescence analysis showed that less ERα-E385V than ERα-WT was translocated into the nucleus in the presence of E2.

Conclusion
These 2 new cases are remarkable given the difference in the severity of their ovarian and hormonal phenotypes. This phenotypic discrepancy may be due to a mechanism partially compensating for the ERα loss of function.
Neuro-ophthalmology and Pregnancy
Authors: Moss Heather E. 
Published: February 2022

ABSTRACT

PURPOSE OF REVIEW
This article summarizes the impact of pregnancy on neuro-ophthalmic pathways and presents an approach to the evaluation of pregnant women who have neuro-ophthalmic symptoms or signs.

RECENT FINDINGS
Advances in noninvasive ophthalmic imaging have increased knowledge of the impact of pregnancy on ocular blood flow, which may have relevance for understanding the impact of preeclampsia and eclampsia on the eye.

SUMMARY
The framework for approaching neuro-ophthalmic symptoms and signs in pregnant women is similar to the general approach for people who are not pregnant. Visual symptoms are common in preeclampsia and eclampsia. Some diseases that impact the neuro-ophthalmic pathways are more common in pregnant women. Pregnancy should be considered when recommending the workup and treatment for neuro-ophthalmic symptoms and signs.
Neuromuscular Disorders and Pregnancy
Authors: Massey Janice M. , Gable Karissa L. 
Published: February 2022

ABSTRACT

PURPOSE OF REVIEW
This article provides an overview of neuromuscular disorders in pregnancy, with a focus on diagnosis and management.

RECENT FINDINGS
Neuromuscular disorders with issues that occur in pregnancy include conditions that are acquired (including autoimmune) or genetic; each requires a unique approach to management and treatment prepartum, peripartum, and postpartum. Guidance in the literature regarding management and treatment options is predominantly from case series and retrospective reviews. Treatment can be complex, particularly in autoimmune neuromuscular diseases, because of the risks of side effects of the treatments that may affect the patient and fetus.

SUMMARY
This article summarizes expectations, diagnosis, and management for a wide range of neuromuscular disorders in pregnancy.
Mass Deployment of Deep Neural Network: Real-Time Proof of Concept With Screening of Intracranial Hemorrhage Using an Open Data Set
Authors: Hopkins Benjamin S. , Murthy Nikhil K. , Texakalidis Pavlos , Karras Constantine L. , Mansell Mitchell , Jahromi Babak S. , Potts Matthew B. , Dahdaleh Nader S. 
Published: February 2022

BACKGROUND:
Intracranial hemorrhage (ICH) is considered an emergency that requires rapid medical or surgical management. Previous studies have used artificial intelligence to attempt to expedite the diagnosis of this pathology on neuroimaging. However, these studies have used local, institution-specific data for training of networks that limit deployment of across broader hospital networks or regions because of data biases.

OBJECTIVE:
To demonstrate the creation of a neural network based on an openly available imaging data tested on data from our institution demonstrating a high-efficacy, institution-agnostic network.

METHODS:
A data set was created from publicly available noncontrast computed tomography images of known ICH. These data were used to train a neural network using distinct windowing and augmentation. This network was then validated in 2 phases using cohort-based (phase 1) and longitudinal (phase 2) approaches.

RESULTS:
Our convolutional neural network was trained on 752 807 openly available slices, which included 112 762 slices containing intracranial hemorrhage. In phase 1, the final network performance for intracranial hemorrhage showed a receiver operating characteristic curve (AUC) of 0.99. At the inflection point, our model showed a sensitivity of 98% at a threshold specificity of 99%. In phase 2, we obtained an AUC of 0.98 after analysis of 726 scans with a negative predictive value of 99.70% (n = 726).

CONCLUSION:
We demonstrate an effective neural network trained on completely open data for screening ICH at an unrelated institution. This study demonstrates a proof of concept for screening networks for multiple sites while maintaining high efficacy.
Fatty acid-binding proteins and fatty acid synthase influence glial reactivity and promote the formation of Müller glia-derived progenitor cells in the chick retina
Authors: Campbell Warren A. , Tangeman Allen , El-Hodiri Heithem M. , Hawthorn Evan C. , Hathoot Maddie , Blum Sydney , Hoang Thanh , Blackshaw Seth , Fischer Andy J. 
Published: February 2022

ABSTRACT
A recent comparative transcriptomic study of Müller glia (MG) in vertebrate retinas revealed that fatty acid binding proteins (FABPs) are among the most highly expressed genes in chick ( Hoang et al., 2020). Here, we investigate how FABPs and fatty acid synthase (FASN) influence glial cells in the chick retina. During development, FABP7 is highly expressed by retinal progenitor cells and maturing MG, whereas FABP5 is upregulated in maturing MG. PMP2 (FABP8) is expressed by oligodendrocytes and FABP5 is expressed by non-astrocytic inner retinal glial cells, and both of these FABPs are upregulated by activated MG. In addition to suppressing the formation of Müller glia-derived progenitor cells (MGPCs), we find that FABP-inhibition suppresses the proliferation of microglia. FABP-inhibition induces distinct changes in single cell transcriptomic profiles, indicating transitions of MG from resting to reactive states and suppressed MGPC formation, with upregulation of gene modules for gliogenesis and decreases in neurogenesis. FASN-inhibition increases the proliferation of microglia and suppresses the formation of MGPCs. We conclude that fatty acid metabolism and cell signaling involving fatty acids are important in regulating the reactivity and dedifferentiation of MG, and the proliferation of microglia and MGPCs.
Keeping your cool: thermoregulatory performance and plasticity in desert cricetid rodents
Authors: Ramirez Richard W. , Riddell Eric A. , Beissinger Steven R. , Wolf Blair O. 
Published: February 2022

ABSTRACT
Small mammals in hot deserts often avoid heat via nocturnality and fossoriality, and are thought to have a limited capacity to dissipate heat using evaporative cooling. Research to date has focused on thermoregulatory responses to air temperatures (Ta) below body temperature (Tb). Consequently, the thermoregulatory performance of small mammals exposed to high Ta is poorly understood, particularly responses across geographic and seasonal scales. We quantified the seasonal thermoregulatory performance of four cricetid rodents (Neotoma albigula, Neotoma lepida, Peromyscus eremicus, Peromyscus crinitus) exposed to high Ta, at four sites in the Mojave Desert. We measured metabolism, evaporative water loss and Tb using flow-through respirometry. When exposed to Ta≥Tb, rodents showed steep increases in Tb, copious salivation and limited evaporative heat dissipation. Most individuals were only capable of maintaining Ta–Tb gradients of ∼1°, resulting in heat tolerance limits (HTLs) in the range Ta=43–45°C. All species exhibited a thermoneutral Tb of ∼35–36°C, and Tb increased to maximal levels of ∼43°C. Metabolic rates and rates of evaporative water loss increased steeply in all species as Ta approached Tb. We also observed significant increases in resting metabolism and evaporative water loss from summer to winter at Ta within and above the thermoneutral zone. In contrast, we found few differences in the thermoregulatory performance within species across sites. Our results suggest that cricetid rodents have a limited physiological capacity to cope with environmental temperatures that exceed Tb and that a rapidly warming environment may increasingly constrain their nocturnal activity.
Arapaima gigas maintains gas exchange separation in severe aquatic hypoxia but does not suffer branchial oxygen loss
Authors: Aaskov Magnus L. , Jensen Rasmus J. , Skov Peter Vilhelm , Wood Chris M. , Wang Tobias , Malte Hans , Bayley Mark 
Published: February 2022

ABSTRACT
One of the most air-reliant obligate air-breathing fish is the South American Arapaima gigas, with substantially reduced gills impeding gas diffusion, thought to be a result of recurring aquatic hypoxia in its habitat. In normoxic water, A. gigas is reported to satisfy 70–80% of its O2 requirement from the air while excreting 60–90% of its CO2 to the water. If this pattern of gas exchange were to continue in severely hypoxic water, O2 loss at the gills would be expected. We hypothesized therefore that partitioning of CO2 would shift to the air phase in severe aquatic hypoxia, eliminating the risk of branchial O2 loss. By adapting a respirometer designed to measure aquatic ṀO2/ṀCO2, we were able to run intermittent closed respirometry on both water and air phase for both of these gasses as well as sample water for N-waste measurements (ammonia-N, urea-N) so as to calculate metabolic fuel utilization. In contrast to our prediction, we found that partitioning of CO2 excretion changed little between normoxia and severe hypoxia (83% versus 77% aquatic excretion, respectively) and at the same time there was no evidence of branchial O2 loss in hypoxia. This indicates that A. gigas can utilize distinct transfer pathways for O2 and CO2. Routine and standard ṀO2, N-waste excretion and metabolic fuel utilization did not change with water oxygenation. Metabolism was fuelled mostly by protein oxidation (53%), while carbohydrates and lipids accounted for 27% and 20%, respectively.
Effectiveness of antepartum breathing exercises on the outcome of labour: A randomized controlled trial
Authors: Karkada Sushmitha R , Noronha Judith A , Bhat Shashikala K , Bhat Parvati , Nayak Baby S 
Published: February 2022

Abstract Background Childbirth is a life-transforming intense event to a woman and her family. Even though a variety of non-pharmacological techniques are readily available to alleviate the distress of women in labour, the majority of women are unaware of its benefits. The objective of the study was to explore the impact of a simple non-pharmacological technique i.e., antepartum breathing exercises on maternal outcomes of labour among primigravid women. Methods A single centre prospective, single-blinded, randomized controlled trial was conducted at the antenatal outpatient clinic of a secondary healthcare institution. Eligible primigravid women were randomized into intervention and standard care groups. Both groups received standard obstetrical care. In addition, the intervention group were taught antepartum breathing exercises and were advised to practise daily and also during the active stage of labour. The primary outcome of the trial was the maternal outcome of labour measured in terms of onset of labour, nature of delivery, duration of labour, and need for augmentation of labour. Data was collected using World Health Organization (WHO) partograph, structured observational record on the outcome of labour. Results A total of 98 (70%) primigravid women who practised antepartum breathing exercises had spontaneous onset of labour. The odds of spontaneous onset of labour after randomization in the intervention group was 2.192 times more when compared to standard care at a (95% confidence interval 1.31–3.36, p<.001). Also, the requirement for augmentation of labour was minimal and there was a reduction in the rate of caesarean deliveries (p <.05) based on the χ2 test. The overall mean duration of labour was less compared to standard care group F(1)= 133.800, p <.001. Conclusion Antepartum breathing exercises during labour can facilitate spontaneous vaginal birth, shorten the duration of labour, and reduce the need for operative interference.
Efficiency of transplacental transfer of respiratory syncytial virus (RSV) specific antibodies among pregnant women in Kenya
Authors: Nyiro Joyce U. , Bukusi Elizabeth , Mwaengo Dufton , Nyaguara Amek , Nyawanda Bryan , Otieno Nancy , Bigogo Godfrey , Murunga Nickson , Widdowson Marc-Alain , Verani Jennifer R. , Chaves Sandra S. , Mwangudza Hope , Odundo Calleb , Berkley James A. , Nokes D James , Munywoki Patrick K. 
Published: February 2022

Background: Maternal immunisation to boost respiratory syncytial virus (RSV) antibodies in pregnant women, is a strategy being considered to enhance infant protection from severe RSV associated disease. However, little is known about the efficiency of transplacental transfer of RSV-specific antibodies in a setting with a high burden of malaria and HIV, to guide the implementation of such a vaccination program. Methods: Using a plaque reduction neutralization assay, we screened 400 pairs of cord and maternal serum specimens from pregnant women for RSV-specific antibodies. Participants were pregnant women of two surveillance cohorts: 200 participants from a hospital cohort in Kilifi, Coastal Kenya and 200 participants from a surveillance cohort in Siaya, Western Kenya. Transplacental transfer efficiency was determined by the cord to maternal transfer ratio (CMTR). Logistic regression was used to determine independent predictors of impaired transplacental transfer of RSV-specific antibodies. Results: A total of 800 samples were screened from the 400 participants. At enrollment the median age was 25 years (Interquartile range (IQR): 21-31). Overall, transplacental transfer was efficient and did not differ between Kilifi and Siaya cohort (1.02 vs. 1.02; p=0.946) but was significantly reduced among HIV-infected mothers compared to HIV-uninfected mothers (mean CMTR: 0.98 vs 1.03; p=0.015). Prematurity <33 weeks gestation (Odds ratio [OR]: 0.23, 95% confidence interval [CI] 0.06–0.85; p=0.028), low birth weight <2.5 kgs (OR: 0.25, 95% CI: 0.07–0.94; p=0.041) and HIV infection (OR: 0.47, 95% CI:0.23-0.98; p=0.045) reduced efficiency of transplacental transfer among these women. Conclusions: Transplacental transfer of RSV-specific antibodies among pregnant women in Kenya is efficient. A consideration to integrate other preventive interventions with maternal RSV vaccination targeting infants born premature (<33 weeks gestation), with low birth weight <2.5 kgs, or HIV-infected mothers is likely to improve vaccine outcomes in this setting.
The Risk of Caution: Evidence from an Experiment
Authors: Carson Richard T. , Graff Zivin Joshua , Louviere Jordan J. , Sadoff Sally , Shrader Jeffrey G. 
Published: February 2022

Innovation is important for firm performance and broader economic growth. However, breakthrough innovations necessarily require greater risk taking than more incremental approaches. To understand how managers respond to uncertainty when making research and development decisions, we conducted experiments with master’s degree students in a program focused on the intersection of business and technology. Study participants were asked to choose whether to fund hypothetical research projects using a process that mirrors real-world research and development funding decisions. The experiments provided financial rewards that disproportionately encouraged the choice of higher-risk projects. Despite these incentives, most participants chose lower-risk projects at the expense of projects more likely to generate a large payoff. Heterogeneity analysis and additional experimental treatments show that individual risk preferences predict greater tolerance of high-risk projects and suggest that more appropriate decision making can be learned. Thus, for firms seeking to fund breakthrough research and development, appropriate screening and training of employees may play important roles in increasing the likelihood of success. This paper was accepted by Gustavo Manso, finance. Funding: This work was supported by the National Science Foundation [Grant SBE-1561257]. Supplemental Material: The data files and online appendix are available at https://doi.org/10.1287/mnsc.2021.4292 .
Optical microstructure fabrication using structured polarized illumination
Authors: Strobelt Jonas , Stolz Daniel , Leven Maximilian , Soelen Matthew Van , Kurlandski Luke , Abourahma Heba , McGee David J. 
Published: February 2022

A versatile system for the fabrication of surface microstructures is demonstrated by combining the photomechanical response of supramolecular azopolymers with structured polarized illumination from a high resolution spatial light modulator. Surface relief structures with periods 900 nm - 16.5 µm and amplitudes up to 1.0 µm can be fabricated with a single 5 sec exposure at 488 nm. Sinusoidal, circular, and chirped surface profiles can be fabricated via direct programming of the spatial light modulator, with no optomechanical realignment required. Surface microstructures can be combined into macroscopic areas by mechanical translation followed by exposure. The surface structures grow immediately in response to illumination, can be visually observed in real time, and require no post-exposure processing.
Quasi-static optical parametric amplification
Authors: Jankowski Marc , Jornod Nayara , Langrock Carsten , Desiatov Boris , Marandi Alireza , Lončar Marko , Fejer Martin M. 
Published: February 2022

High-gain optical parametric amplification is an important nonlinear
process used both as a source of coherent infrared light and as a
source of nonclassical light. In this work, we experimentally
demonstrate an approach to optical parametric amplification that
enables extremely large parametric gains with low energy requirements.
In conventional nonlinear media driven by femtosecond pulses, multiple
dispersion orders limit the effective interaction length available for
parametric amplification. Here, we use the dispersion engineering
available in periodically poled thin-film lithium niobate
nanowaveguides to eliminate several dispersion orders at once. The
result is a quasi-static process; the large peak intensity associated
with a short pump pulse can provide gain to signal photons without
undergoing pulse distortion or temporal walk-off. We characterize the
parametric gain available in these waveguides using optical parametric
generation, where vacuum fluctuations are amplified to macroscopic
intensities. In the unsaturated regime, we observe parametric gains as
large as 71 dB (118 dB/cm) spanning 1700–2700 nm with pump energies of
only 4 pJ. When driven with pulse energies

>

10

p
J

, we observe saturated parametric
gains as large as 88 dB (

>

146

d
B

/

c
m

). The devices shown here achieve
saturated optical parametric generation with orders of magnitude less
pulse energy than previous techniques.
Dysphagia among geriatric trauma patients: A population-based study
Authors: Nieto Kenny , Ang Darwin , Liu Huazhi 
Published: February 2022

ObjectiveTo determine the significance of dysphagia on clinical outcomes of geriatric trauma patients.MethodsThis is a retrospective population-based study of geriatric trauma patients 65 years and older utilizing the Florida Agency for Health Care Administration dataset from 2010 to 2019. Patients with pre-admission dysphagia were excluded. Multivariable regression was used to create statistical adjustments. Primary outcomes included mortality and the development of dysphagia. Secondary outcomes included length of stay and complications. Subgroup analyses included patients with dementia, patients who received transgastric feeding tubes (GFTs) or tracheostomies, and speech language therapy consultation.ResultsA total of 52,946 geriatric patients developed dysphagia after admission during a 9-year period out of 1,150,438 geriatric trauma admissions. In general, patients who developed dysphagia had increased mortality, length of stay, and complications. When adjusted for traumatic brain and cervical spine injuries, the addition of mechanical ventilation decreased the mortality odds. This was also observed in the subset of patients with dysphagia who had GFTs placed. Of the three primary risk factors for dysphagia investigated, mechanical ventilation was the most strongly associated with later development of dysphagia and mortality.ConclusionThe geriatric trauma population is vulnerable to dysphagia with a large number associated with traumatic brain injury, cervical spine injury, and polytraumatic injuries that lead to mechanical ventilation. Earlier intubation/mechanical ventilation in association with GFTs was found to be associated with decreased inpatient hospital mortality. Tracheostomy placement was shown to be an independent risk factor for the development of dysphagia. The utilization of speech language therapy was found to be inconsistently utilized.