bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genesis of a Fact: Tay-Sachs Disease as a “Simple Recessive”
Authors: Lubinsky Mark 
Published: June 2023

Abstract“Obvious” recessive inheritance of Tay-Sachs disease (TSD; OMIM # 272800) took over half a century to be established. Points now taken for granted were problematic, that: (1) TSD is a biological entity, not an artificial selection of concurrent findings, (2) manifestations have narrow limits, (3) it was not part of a spectrum of disorders, and can be differentiated from other conditions, (4) it will not change to another disease, (5) it is due to a single specific gene, (6) there are no secondary causes, (7) the gene has no apparent clinical effects unrelated to TSD, and (8) the gene is inherited only as a clinical recessive. To a large extent, resolution reflected biochemical understanding that took until mid-20th century, and beyond, to change how physicians viewed diseases in general. With this, biochemical carrier screening and prenatal biochemical diagnosis have become routinely available, and it is a model for carrier population screening, while gene therapy for the disease has been reported with some degree of success. Here, the history of medical ideas about TSD and its inheritance are reviewed to show how it achieved its current status as a distinct recessive disorder.
Hemoglobin A1c as a Substitute for Oral Glucose Testing in Early Pregnancy Screening
Authors: Crimmins Sarah D. , Martin Lucille M. , Myers Madalyn , Elsamadicy Emad , Quebedeaux Tabitha M. , Desai Andrea N. , Kopelman Jerome N. 
Published: June 2023

Objective Current recommendations for individuals with risk factors for gestational diabetes mellitus (GDM) call for screening in early pregnancy. However, there is currently no clear consensus on a specific screening modality. This study evaluates whether a hemoglobin A1c (HbA1c) screening in individuals with risk factors for gestational diabetes (GDM) could be used instead of an early 1-hour glucose challenge test (GCT). We hypothesized that the HbA1c could replace 1-hour GCT in early pregnancy evaluation
Study Design This is a prospective observational trial at a single tertiary referral center of women with at least one risk factor for GDM who were screened at <16 weeks of gestation with both 1-hour GCT or HbA1c. Exclusion criteria include: previous diagnosis of diabetes mellitus, multiple gestation, miscarriage, or missing delivery information. The diagnosis of GDM was made by a 3-hour 100-g glucose tolerance test, using the Carpenter–Coustan criteria (at least two results >94, 179, 154, and 139 mg/dL for fasting, 1-, 2-, and 3-hour values, respectively), 1-hour GCT > 200 mg/dL, or HbA1c > 6.5%.
Results A total of 758 patients met inclusion criteria. A total of 566 completed a 1-hour GCT and 729 had an HbA1c collected. The median gestational age at testing was 91/7 weeks (range: 40/7–156/7 weeks]. Twenty-one participants were diagnosed with GDM at <16 weeks' GA. The receiver operating characteristic (ROC) curves identified the optimal valves for a positive screen for an HbA1c > 5.6%. The HbA1c had a sensitivity of 84.2%, a specificity of 83.3%, and a false positive rate of 16.7% (p < 0.001). The area under the ROC curve for the HbA1c was 0.898. Gestational age of delivery was slightly earlier with individuals with an elevated HbA1c but no other changes in delivery or neonatal outcomes. Contingent screening improved specificity (97.7%) and decreased false positive rate to 4.4%.
Conclusion HbA1c may be a good assessment in early pregnancy for gestational diabetes.
Key Points
Development of the high energy engineering X-ray (HEX) superconducting wiggler, magnetic measurement, installation, and commissioning
Authors: Tanabe T. , Corwin T. , Hidas D. , Musardo M. , Migliorino D. , Rank J. , Seegitz M. , Todd R. , Hidaka Y. , Hobl A. , Grau A. 
Published: June 2023

The High energy Engineering X-ray (HEX) diffraction beamline at the National Synchrotron Light Source II (NSLS-II) at Brookhaven National Lab (BNL) is the first high-energy beamline capable of reaching 200 keV for a monochromatic beam. With the 3 GeV electron beam energy for the NSLS-II ring, only the superconducting wiggler (SCW) producing greater than 4 T peak field can cover these ranges with a sufficient number of photons. The 1.2 m-long HEX-SCW has a period length of 70 mm and a field strength on-axis of 4.3 T. It utilizes no liquid helium, and the vertical aperture size of the electron beam vacuum chamber is 8 mm. Unlike regular undulators/wigglers, there is no standard configuration for the magnetic measurement system for superconducting insertion devices. The NSLS-II Insertion Devices group has developed, in collaboration with the vacuum group, a novel in-vacuum Hall mapper with a 1.75 m in-vacuum linear motor and an in-vacuum flip coil system utilizing many commercial-off-the-shelf products. The measurements were conducted at the BNL, and the device was installed in the ring and commissioned. This paper provides a description of the SCW and its magnetic measurement systems, as well as a brief account of the installation and commissioning efforts.
GHRH agonist MR-409 protects β-cells from streptozotocin-induced diabetes
Authors: Louzada Ruy A. , Blandino-Rosano Manuel , Flores Sebastian , Lubaczeuski Camila , Cui Tengjiao , Sha Wei , Cai Renzhi , Schally Andrew V. , Bernal-Mizrachi Ernesto 
Published: June 2023

Patients with type 1 diabetes (T1D) suffer from insufficient functional β-cell mass, which results from infiltration of inflammatory cells and cytokine-mediated β-cell death. Previous studies demonstrated the beneficial effects of agonists of growth hormone-releasing hormone receptor (GHRH-R), such as MR-409 on preconditioning of islets in a transplantation model. However, the therapeutic potential and protective mechanisms of GHRH-R agonists on models of T1D diabetes have not been explored. Using in vitro and in vivo models of T1D, we assessed the protective propertie of the GHRH agonist, MR409 on β-cells. The treatment of insulinoma cell lines and rodent and human islets with MR-409 induces Akt signaling by induction of insulin receptor substrate 2 (IRS2), a master regulator of survival and growth in β-cells, in a PKA-dependent manner. The increase in cAMP/PKA/CREB/IRS2 axis by MR409 was associated with decrease in β-cell death and improved insulin secretory function in mouse and human islets exposed to proinflammatory cytokines. The assessment of the effects of GHRH agonist MR-409 in a model of T1D induced by low-dose streptozotocin showed that mice treated with MR-409 exhibited better glucose homeostasis, higher insulin levels, and preservation of β-cell mass. Increased IRS2 expression in β-cells in the group treated with MR-409 corroborated the in vitro data and provided evidence for the underlying mechanism responsible for beneficial effects of MR-409 in vivo. Collectively, our data show that MR-409 is a novel therapeutic agent for the prevention and treatment of β-cells death in T1D.
MBD2a–NuRD binds to the methylated γ-globin gene promoter and uniquely forms a complex required for silencing of HbF expression
Authors: Shang Shengzhe , Li Xia , Azzo Alexander , Truong Tin , Dozmorov Mikhail , Lyons Charles , Manna Asit K. , Williams David C. , Ginder Gordon D. 
Published: June 2023

During human development, there is a switch in the erythroid compartment at birth that results in silencing of expression of fetal hemoglobin (HbF). Reversal of this silencing has been shown to be effective in overcoming the pathophysiologic defect in sickle cell anemia. Among the many transcription factors and epigenetic effectors that are known to mediate HbF silencing, two of the most potent are BCL11A and MBD2–NuRD. In this report, we present direct evidence that MBD2–NuRD occupies the γ-globin gene promoter in adult erythroid cells and positions a nucleosome there that results in a closed chromatin conformation that prevents binding of the transcriptional activator, NF-Y. We show that the specific isoform, MBD2a, is required for the formation and stable occupancy of this repressor complex that includes BCL11A, MBD2a–NuRD, and the arginine methyltransferase, PRMT5. The methyl cytosine binding preference and the arginine-rich (GR) domain of MBD2a are required for high affinity binding to methylated γ-globin gene proximal promoter DNA sequences. Mutation of the methyl cytosine–binding domain (MBD) of MBD2 results in a variable but consistent loss of γ-globin gene silencing, in support of the importance of promoter methylation. The GR domain of MBD2a is also required for recruitment of PRMT5, which in turn results in placement of the repressive chromatin mark H3K8me2s at the promoter. These findings support a unified model that integrates the respective roles of BCL11A, MBD2a–NuRD, PRMT5, and DNA methylation in HbF silencing.
The metabolic rate of the biosphere and its components
Authors: Hoehler Tori M. , Mankel Dylan J. , Girguis Peter R. , McCollom Thomas M. , Kiang Nancy Y. , Jørgensen Bo Barker 
Published: June 2023

We assessed the relationship between rates of biological energy utilization and the biomass sustained by that energy utilization, at both the organism and biosphere level. We compiled a dataset comprising >10,000 basal, field, and maximum metabolic rate measurements made on >2,900 individual species, and, in parallel, we quantified rates of energy utilization, on a biomass-normalized basis, by the global biosphere and by its major marine and terrestrial components. The organism-level data, which are dominated by animal species, have a geometric mean among basal metabolic rates of 0.012 W (g C)
−1
and an overall range of more than six orders of magnitude. The biosphere as a whole uses energy at an average rate of 0.005 W (g C)
−1
but exhibits a five order of magnitude range among its components, from 0.00002 W (g C)
−1
for global marine subsurface sediments to 2.3 W (g C)
−1
for global marine primary producers. While the average is set primarily by plants and microorganisms, and by the impact of humanity upon those populations, the extremes reflect systems populated almost exclusively by microbes. Mass-normalized energy utilization rates correlate strongly with rates of biomass carbon turnover. Based on our estimates of energy utilization rates in the biosphere, this correlation predicts global mean biomass carbon turnover rates of ~2.3 y
−1
for terrestrial soil biota, ~8.5 y
−1
for marine water column biota, and ~1.0 y
−1
and ~0.01 y
−1
for marine sediment biota in the 0 to 0.1 m and >0.1 m depth intervals, respectively.
The Epuyén Outbreak of Hantavirus Pulmonary Syndrome, Argentina, 2018–2019
Authors: Blond Olivier 
Published: June 2023

Abstract

In the context of an emerging zoonotic disease, sources of knowledge are multidisciplinary. Considering this requires not only a medical approach but also the study of the Andean hantavirus clade, its animal host,
Oligoryzomys longicaudatus
, and the environmental conditions that favour its spread before infecting humans.

Also, thanks to a multi-cultural and multi-ethnic context, the containment of this outbreak was achieved through selective respiratory isolation and the cooperation of the local actors involved.
Following a transdisciplinary approach, an actor-oriented analysis and their interaction provide a better understanding of the process that led to this successful containment. It also gives important clues for the control of zoonotic outbreaks, with human-to-human transmission.

Information
© The Author 2023
Convergence analysis of critical point regularization with non-convex regularizers
Authors: Obmann Daniel , Haltmeier Markus 
Published: June 2023

Abstract
One of the key assumptions in the stability and convergence analysis of variational regularization is the ability of finding global minimizers. However, such an assumption is often not feasible when the regularizer is a black box or non-convex making the search for global minimizers of the involved Tikhonov functional a challenging task. This is in particular the case for the emerging class of learned regularizers defined by neural networks. Instead, standard minimization schemes are applied which typically only guarantee that a critical point is found. To address this issue, in this paper we study stability and convergence properties of critical points of Tikhonov functionals with a possible non-convex regularizer. To this end, we introduce the concept of relative sub-differentiability and study its basic properties. Based on this concept, we develop a convergence analysis assuming relative sub-differentiability of the regularizer. The rationale behind the proposed concept is that critical points of the Tikhonov functional are also relative critical points and that for the latter a convergence theory can be developed. For the case where the noise level tends to zero, we derive a limiting problem representing first-order optimality conditions of a related restricted optimization problem. Besides this, we also give a comparison with classical methods and show that the class of ReLU-networks are appropriate choices for the regularization functional. Finally, we provide numerical simulations that support our theoretical findings and the need for the sort of analysis that we provide in this paper.
A statistical framework for domain shape estimation in Stokes flows
Authors: Borggaard Jeff , Glatt-Holtz Nathan E , Krometis Justin 
Published: June 2023

Abstract
We develop and implement a Bayesian approach for the estimation of the shape of a two dimensional annular domain enclosing a Stokes flow from sparse and noisy observations of the enclosed fluid. Our setup includes the case of direct observations of the flow field as well as the measurement of concentrations of a solute passively advected by and diffusing within the flow. Adopting a statistical approach provides estimates of uncertainty in the shape due both to the non-invertibility of the forward map and to error in the measurements. When the shape represents a design problem of attempting to match desired target outcomes, this ‘uncertainty’ can be interpreted as identifying remaining degrees of freedom available to the designer. We demonstrate the viability of our framework on three concrete test problems. These problems illustrate the promise of our framework for applications while providing a collection of test cases for recently developed Markov chain Monte Carlo algorithms designed to resolve infinite-dimensional statistical quantities.
Deep neural network-based reduced-order modeling of ion–surface interactions combined with molecular dynamics simulation
Authors: Kim Byungjo , Bae Jinkyu , Jeong Hyunhak , Hahn Seung Ho , Yoo Suyoung , Nam Sang Ki 
Published: June 2023

Abstract
With the advent of complex and sophisticated architectures in semiconductor device manufacturing, atomic-resolution accuracy and precision are commonly required for industrial plasma processing. This demands a comprehensive understanding of the plasma–material interactions—particularly for forming fine high-aspect ratio (HAR) feature patterns with sufficiently high yield in wafer-level processes. In particular, because the shape distortion in HAR pattern etching is attributed to the deviation of the energetic ion trajectory, the detailed ion–surface interactions need to be thoroughly investigated. In this study, molecular dynamics (MD) simulations were utilized to obtain a fundamental understanding of the collisional nature of accelerated Ar ions on the fluorinated Si surface that may appear on the sidewall of the HAR etched hole. High-fidelity data for ion–surface interaction features representing the energy and angle distributions (EADs) of sputtered atoms for varying degrees of surface F coverage and ion incident angles were obtained via extensive MD simulations. A deep learning-based reduced-order modeling (DL-ROM) framework was developed for efficiently predicting the characteristics of the ion–surface interactions. In the ROM framework, a conditional variational autoencoder (AE) was implemented to obtain regularized latent representations of the distributional data with the condition of the governing factors of the physical system. The proposed ROM framework accurately reproduced the MD simulation results and significantly outperformed various DL-ROMs, such as AE, sparse AE, contractive AE, denoising AE, and variational AE. From the inferred features of the sputtering yield and EADs of sputtered/scattered species, significant insights can be obtained regarding the ion interactions with the fluorinated surface. As the ion incident angle deviated from the glancing-angle range (incident angle >80°), diffuse reflection behavior was observed, which can substantially affect the ion transport in the HAR patterns. Moreover, it was hypothesized that a shift in sputtering characteristics occurs as the surface F coverage varies, based on the inferred EADs. This conjecture was confirmed through detailed MD simulations that demonstrated the fundamental relationship between surface atomic conformations and their sputtering behavior. Combined with additional atomistic-scale investigations, this framework can provide an efficient way to reveal various fundamental plasma–material interactions which are highly demanded for the future development of semiconductor device manufacturing.
Double resonance between corner states in distinct higher-order topological phases
Authors: Medina-Vázquez José A , González-Ramírez Evelyn Y , Murillo-Ramírez José G 
Published: June 2023

Abstract
Recent studies have shown that higher-order topologies in photonic systems lead to a robust enhancement of light–matter interactions. Moreover, higher-order topological phases have been extended to systems even without a band gap, as in Dirac semimetals. In this work, we propose a procedure to simultaneously generate two distinctive higher-order topological phases with corner states that allow a double resonant effect. This double resonance effect between the higher-order topological phases, was obtained from the design of a photonic structure with the ability to generate a higher-order topological (HOTI) insulator phase in the first bands and a higher-order Dirac half-metal phase (HODSM). Subsequently, using the corner states in both topological phases, we tuned the frequencies of both corner states such that they were separated in frequency by a second harmonic. This idea allowed us to obtain a double resonance effect with ultra-high overlap factors, and a considerable improvement in the nonlinear conversion efficiency. These results show the possibility of producing a second-harmonic generation with unprecedented conversion efficiencies in topological systems with simultaneous HOTI and HODSM phases. Furthermore, since the corner state in the HODSM phase presents an algebraic 1/r decay, our topological system can be helpful in experiments about the generation of nonlinear Dirac-ligh–matter interactions.
Enhancement of torque density and power density of polymer-based ultrasonic motors via flexible usage of anisotropy in elastic property
Authors: Liu Jinshuo , Wu Jiang , Gao Xing , Ding Zhaochun , Wei Wentao 
Published: June 2023

Abstract
The carbon-fiber-reinforced poly phenylene sulfide (PPS/CF), which exhibits low density, low energy dissipation, and relatively high elastic modulus among polymers, is a promising material as the vibrating body of lightweight ultrasonic motors (USMs). Interestingly, the flexible usage of the anisotropy in PPS/CF’s elastic property (induced by carbon fibers’ reinforcement) offers a new idea to enhance the torque densities and power densities of the polymer-based USMs. As the key issue of flexibly using the anisotropy, this study aims to accomplish the optimal arrangement of the carbon-fibers’ filling direction according to the structure, the vibration mode, and the piezoelectric material’s polarization direction of the PPS/CF-based motor by performing model construction, structural optimization, and experimental verification. Initially, the dynamic model capable of setting PPS/CF’s anisotropically elastic moduli with the changeable filling direction is established to analyze the vibration characteristics. Subsequently, to increase the vibration velocity, the stiffness, and the electromechanical coupling factors, the optimization is carried out for the PPS/CF-based ring-shaped vibrators, where the optimal angle between the filling direction and the vibrator’s bottom surface is estimated as 60°. Finally, a prototype of the PPS/CF-based vibrator 30 mm in diameter and 8.5 mm in height is fabricated to form a rotary motor, whose movement and load characteristics are investigated through experiments. At 250 V voltage and 24.42 kHz frequency, the motor yields the no-load rotation speed, the maximal torque, and the maximal output power of 99.3 r min−1, 29.8 mNm, and 72 mW, respectively. Moreover, its torque density and power density reach respectively 7.1 Nm kg−1 and 17.1 W kg−1, relatively high among the rotary motors with polymer vibrating bodies. This study validates the effectiveness of our idea and also provides a basic approach to design lightweight USMs that employ newly-developed materials with anisotropically elastic properties and good vibration characteristics.
Studies on structural and optical characterization of Na:ZnS nanocomposites
Authors: Naveenkumar K R , Kannappan P , Asokan K , Arul K Thanigai , Dong Chung-Li , Gupta Gaurav , Senthil K , Dhanasekaran R , Anand G Theophil 
Published: June 2023

Abstract
In this work, we report the structural, morphological and optical characterization of pure and sodium (Na) mixed ZnS nanocomposites. The Na:ZnS nanocomposites were synthesized by the co-precipitation method using the Na2SO4. The powder XRD pattern reveals a mixed phase of cubic and hexagonal structure. The crystalline size was found to be ∼6 nm based on the full width at half maximum (FWHM) by using the Debye Scherrer formula. Moreover, the diffraction peaks were shifted towards a higher angle compared to pure ZnS. This can be due to the difference in the ionic radii of Na+ and Zn2+ ions. The SEM images show the spherical shape of nanocomposites. The UV-visible absorption spectra of pure and Na:ZnS show an absorption cut-off wavelength of 278 nm (4.46 eV) compared to bulk band gap of ZnS (3.78 eV). The blue shift can be attributed to the quantum confinement effect. In addition to that, the optical absorption increases with increasing Na concentration. The functional groups are identified by FTIR analysis. The photoluminescence (PL) study reveals the near band edge emission at 468 nm (2.64 eV). The broad and high relative intensity of defect level emission is observed in the lower energy side of the PL spectra. The intensity of luminescence increases with increasing Na concentration due to the radiative recombination process. The Raman spectra show the formation of nanocomposite through change in phonon frequency, structural disorder and width for LO phonon mode. A change of 1.7 cm−1 phonon width suggests the formation of disorder.