bluuebunny/crossref_metadata_2025_split huggingface dataset:
Absence of the c.169+50delTAAACAG mutation of SOD1 gene in a sample of keratoconus patients in Brazilian population
Authors: Lopes Alessandro Garcia , de Almeida Júnior Gildásio Castello , Teixeira Ronan Marques , de Mattos Luiz Carlos , Brandão de Mattos Cinara Cássia , Castiglioni Lilian 
Published: July 2020

Abstract
Objective
To determine the presence of the 7-bp deletion c.169+50delTAAACAG in intron 2 of Superoxide Dismutase-1 gene in keratoconic patients from the State of São Paulo, Brazil, which promotes splicing variations, resulting in non-functional Superoxide Dismutase-1 antioxidant proteins, which may damage the corneal structure.

Results
A group of 35 keratoconic patients, from whom 35 peripheral blood samples and 58 samples of corneal fragments were evaluated, and a control group of 89 individuals, from whom 41 blood samples and 149 samples of corneal fragments were collected. After the amplification of DNA fragments by polymerase chain reaction, mutational screening analysis was performed by enzymatic digestion, followed by direct sequencing. The absence of the 7-bp c.169+50delTAAACAG mutation in intron 2 of Superoxide Dismutase-1 gene was detected in the analyzed subjects of the 2 groups, both in the cornea and peripheral blood samples. Then, according to our results, there is no involvement of c.169+50delTAAACAG deletion in the pathogenesis of keratoconus in this population, once it was not detected. But we emphasize that studies involving this deletion must be continued in an attempt to elucidate this issue.
Quantitative Constraints on Faulting and Fault Slip Rates in the Northern Main Ethiopian Rift
Authors: Siegburg Melanie , Bull Jonathan M. , Nixon Casey W. , Keir Derek , Gernon Thomas M. , Corti Giacomo , Abebe Bekele , Sanderson David J. , Ayele Atalay 
Published: July 2020

AbstractThe Boset magmatic segment (BMS) of the northern Main Ethiopian Rift (MER) is an ideal natural laboratory to investigate the kinematics, interaction, and rates of activity within a fault network in a magma‐rich rift. In this paper we take advantage of the availability of (1) high‐resolution remote sensing data (LiDAR, ASTER); (2) absolute age chronology on offset reference surfaces; and (3) well‐exposed active normal fault arrays to place new constraints on rift kinematics and strain distribution, and to quantify the architecture and fault slip rates at different temporal scales within a magmatic segment. We found that the rift border faults strike approximately NE, while the younger faults in the rift segments strike NNE. Analyses of geometric rift parameters show that the axial active part of the rift is transtensional with an increase of the shear component northward. The fault displacement analyses and displacement:length ratios increase toward the segment tips, suggesting a significant contribution of fault growth by linkage. In contrast, magmatism is focused on the segment center and localized to a narrow zone. Estimated fault slip rates vary, with rates of up to ~0.37 mm/year in ~0.3 Ma old rift floor deposits, whereas higher rates of up to ~4.4 mm/year are observed for faults cutting through ~6 Ka lavas. The difference in slip rates indicates short‐term variability or a very active recent episode compared to long‐term low average slip rates.
Defining the phenotype of FHF1 developmental and epileptic encephalopathy
Authors: Trivisano Marina , Ferretti Alessandro , Bebin Elizabeth , Huh Linda , Lesca Gaetan , Siekierska Aleksandra , Takeguchi Ryo , Carneiro Maryline , De Palma Luca , Guella Ilaria , Haginoya Kazuhiro , Shi Ruo Ming , Kikuchi Atsuo , Kobayashi Tomoko , Jung Julien , Lagae Lieven , Milh Mathieu , Mathieu Marie L. , Minassian Berge A. , Novelli Antonio , Pietrafusa Nicola , Takeshita Eri , Tartaglia Marco , Terracciano Alessandra , Thompson Michelle L. , Cooper Gregory M. , Vigevano Federico , Villard Laurent , Villeneuve Nathalie , Buyse Gunnar M. , Demos Michelle , Scheffer Ingrid E. , Specchio Nicola 
Published: July 2020

AbstractFibroblast growth‐factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 encodes a cytosolic protein that modulates neuronal sodium channel gating. We aim to refine the electroclinical phenotypic spectrum of patients with pathogenic FHF1 variants. We retrospectively collected clinical, genetic, neurophysiologic, and neuroimaging data of 17 patients with FHF1‐DEE. Sixteen patients had recurrent heterozygous FHF1 missense variants: 14 had the recurrent p.Arg114His variant and two had a novel likely pathogenic variant p.Gly112Ser. The p.Arg114His variant is associated with an earlier onset and more severe phenotype. One patient carried a chromosomal microduplication involving FHF1. Twelve patients carried a de novo variant, five (29.5%) inherited from parents with gonadic or somatic mosaicism. Seizure onset was between 1 day and 41 months; in 76.5% it was within 30 days. Tonic seizures were the most frequent seizure type. Twelve patients (70.6%) had drug‐resistant epilepsy, 14 (82.3%) intellectual disability, and 11 (64.7%) behavioral disturbances. Brain magnetic resonance imaging (MRI) showed mild cerebral and/or cerebellar atrophy in nine patients (52.9%). Overall, our findings expand and refine the clinical, EEG, and imaging phenotype of patients with FHF1‐DEE, which is characterized by early onset epilepsy with tonic seizures, associated with moderate to severe ID and psychiatric features.
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Authors: Dörr Helmuth-Günther , Schulze Nadja , Bettendorf Markus , Binder Gerhard , Bonfig Walter , Denzer Christian , Dunstheimer Desiree , Salzgeber Kirsten , Schmidt Heinrich , Schwab Karl Otfried , Voss Egbert , Wabitsch Martin , Wölfle Joachim 
Published: July 2020

Abstract
Background
Nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by mutations in the active 21-hydroxylase gene (CYP21A2). The clinical symptoms can vary greatly. To date, no systematic studies have been undertaken in Germany.

Aims
Description of the phenotype, evaluation of the diagnostics and genotype-phenotype correlation

Patients and methodology
Retrospective analysis of the data of 134 patients (age range 0.1–18.6 years) in a multicentre study covering 10 paediatric endocrinology centres in Bavaria and Baden-Württemberg. The data was gathered on site from the medical records. Two hundred and thirty-three alleles with a mutation of the CYP21A2 gene were identified in 126 patients. A genotype-phenotype correlation of the mutation findings was undertaken (C1, severe/mild; C2, mild/mild). Individuals with a heterozygous mutation of the CYP21A2 were also included (C3). The data was collected with the approval of the ethics committee of the University Hospital of Erlangen during the period of 2014 and 2015.

Results (MW ± SD)
One hundred and seventeen out of 134 patients (115 f, 29 m) were symptomatic. The chronological age (CA) at diagnosis was 7.1 ± 4.4 years. The most frequent symptom (73.5%) was premature pubarche. The height-SDS on diagnosis was 0.8 ± 1.3 and the BMI-SDS was 0.8 ± 1.2. Bone age (BA) was ascertained in 82.9% of the symptomatic patients. The difference between BA and CA was 1.9 ± 1.4 years. Basal 17OHP concentrations were 14.5 ± 19.1 ng/ml (18 patients < 2 ng/ml). In total, 58.1% mild and 34.7% severe mutations were found. The most common mutation was p.Val281Leu (39.1%); 65.8% of the patients could be allocated to group C1. No phenotypical differences were found between the 3 mutation groups. The 17OHP levels (basal and after ACTH) in the standard ACTH stimulation test were highest in group C1 and also significantly higher in group C2 as in C3, the ACTH-stimulated cortisol levels (ng/ml) were significantly lower in groups C1 (192.1 ± 62.5) and C2 (218 ± 50) than in C3 (297.3 ± 98.7).

Conclusion
Most of the patients have symptoms of mild androgenisation. Male patients are underdiagnosed. Diagnostics are not standardised. Differences between the types of mutations are found in the hormone concentrations but not in phenotype. We speculate that further, as yet not clearly defined, factors are responsible for the development of the respective phenotypes.
A New Family of Ultralow Loss Reversible Phase‐Change Materials for Photonic Integrated Circuits: Sb2S3 and Sb2Se3
Authors: Delaney Matthew , Zeimpekis Ioannis , Lawson Daniel , Hewak Daniel W. , Muskens Otto L. 
Published: July 2020

AbstractPhase‐change materials (PCMs) are seeing tremendous interest for their use in reconfigurable photonic devices; however, the most common PCMs exhibit a large absorption loss in one or both states. Here, Sb2S3 and Sb2Se3 are demonstrated as a class of low loss, reversible alternatives to the standard commercially available chalcogenide PCMs. A contrast of refractive index of Δn = 0.60 for Sb2S3 and Δn = 0.77 for Sb2Se3 is reported, while maintaining very low losses (k < 10−5) in the telecommunications C‐band at 1550 nm. With a stronger absorption in the visible spectrum, Sb2Se3 allows for reversible optical switching using conventional visible wavelength lasers. Here, a stable switching endurance of better than 4000 cycles is demonstrated. To deal with the essentially zero intrinsic absorption losses, a new figure of merit (FOM) is introduced taking into account the measured waveguide losses when integrating these materials onto a standard silicon photonics platform. The FOM of 29 rad phase shift per dB of loss for Sb2Se3 outperforms Ge2Sb2Te5 by two orders of magnitude and paves the way for on‐chip programmable phase control. These truly low‐loss switchable materials open up new directions in programmable integrated photonic circuits, switchable metasurfaces, and nanophotonic devices.
Monitoring Hydrogen Evolution Reaction Intermediates of Transition Metal Dichalcogenides via Operando Raman Spectroscopy
Authors: Guo Shaohui , Li Yaohua , Tang Songwei , Zhang Yuanyuan , Li Xuanhua , Sobrido Ana Jorge , Titirici Maria‐Magdalena , Wei Bingqing 
Published: July 2020

AbstractA deeper understanding of the water‐splitting hydrogen evolution reaction (HER) mechanism during photocatalytic processes is crucial for the rational design of efficient photocatalysts. In particular, the HER mechanism promoted by multielement hybrid structures remains extremely challenging and elusive. Herein, an in situ photoelectrochemical/Raman measurement system is employed to monitor the HER mechanism of hybrid nanostructures under realistic working conditions via operando Raman spectra and linear‐sweep voltammetry curves. As a proof of concept, tunable composition transition metal dichalcogenides MoS2xSe2(1−x) nanosheets are used as a model photocatalyst to unveil the corresponding photocatalytic mechanism. The spectroscopic studies reveal that hydrogen atoms can be adsorbed to active sulfur and selenium atoms via intermediate species formed during the photocatalytic process. More importantly, the studies demonstrate that an exponential relationship exists between the number of reactive electrons and the Raman intensity of intermediate species, which can serve as a guideline to directly evaluate the HER performance in photocatalysts by comparing the Raman intensities of the intermediate species. As a simple, intuitive, and general analytical method, the designed operando Raman measurement approach provides a new tool for elucidating catalytic reaction mechanisms in a realistic and complex environment; and strategically improving H2 production performance of multielement photocatalysts.
Current statement and safe implementation of minimally invasive surgery in the pancreas
Authors: Hayashi Hiromitsu , Baba Hideo 
Published: July 2020

AbstractMinimally invasive pancreatic resection has become very popular in modern pancreatic surgery. Evidence of the benefits of a minimally invasive approach is accumulating thanks to prospective and randomized controlled studies. Minimally invasive surgery provides advantages to the surgeon due to the high definition of the surgical field and the freedom of fine movement of the robot, but should be considered only in selected patients and in high‐volume centers. Minimally invasive distal pancreatectomy for benign and low‐grade malignant tumors has established a secure position over open distal pancreatectomy, since it is associated with a shorter hospital stay, reduced blood loss, and equivalent complication rates. Minimally invasive distal pancreatectomy for pancreatic ductal adenocarcinoma appears to be a feasible, safe, and oncologically equivalent technique in experienced hands. On the other hand, the feasibility and safety of minimally invasive pancreaticoduodenectomy are still controversial compared with open pancreaticoduodenectomy. The choice of either technique among open, laparoscopic, and robotic approaches depends on surgeons' experience and hospital resources with a focus on patient safety. Further studies are needed to prove the perioperative and oncological advantages of minimally invasive surgery compared to open surgery in the pancreas. Here, we review the current status of minimally invasive pancreatic surgery and its safe implementation.
Effect of Spectral Overlap and Separation Distance on Exciton and Biexciton Quantum Yields and Radiative and Nonradiative Recombination Rates in Quantum Dots Near Plasmon Nanoparticles
Authors: Krivenkov Victor , Dyagileva Daria , Samokhvalov Pavel , Nabiev Igor , Rakovich Yury 
Published: July 2020

AbstractEfficient biexciton (BX) photoluminescence (PL) from quantum dots (QDs) paves the way to the generation of entangled photons and related applications. However, the quantum yield (QY) of BX PL is much lower than that for single excitons (EX) due to efficient Auger‐like recombination. In the vicinity of plasmon nanoparticles, the recombination rates of EX and BX may be affected by the Purcell effect, fluorescence quenching, and the excitation rate enhancement. Here, the effect of the plasmon resonance spectral position on the EX and BX PL is experimentally studied in two cases: when the plasmon band overlaps with the excitation wavelength and when it coincides with the QDs PL band. In the first case, the EX and BX excitation efficiencies are significantly increased but the EX QY reduced. As a result, the BX‐to‐EX QY ratio is higher than 1 at plasmon–exciton systems separations shorter than 40 nm. In the second case, the radiative recombination rates are enhanced by several orders of magnitude, which led to an increase in BX QY over distances of up to 90 nm. Finally, these two effects are obtained in the same hybrid structure, with the resultant increase in both excitation efficiency and QY of BX PL.
S‐adenosylmethionine and methylthioadenosine boost cellular productivities of antibody forming Chinese hamster ovary cells
Authors: Verhagen Natascha , Teleki Attila , Heinrich Christoph , Schilling Martin , Unsöld Andreas , Takors Ralf 
Published: July 2020

AbstractThe improvement of cell specific productivities for the formation of therapeutic proteins is an important step towards intensified production processes. Among others, the induction of the desired production phenotype via proper media additives is a feasible solution provided that said compounds adequately trigger metabolic and regulatory programs inside the cells. In this study, S‐(5′‐adenosyl)‐
l‐methionine (SAM) and 5′‐deoxy‐5′‐(methylthio)adenosine (MTA) were found to stimulate cell specific productivities up to approx. 50% while keeping viable cell densities transiently high and partially arresting the cell cycle in an anti‐IL‐8‐producing CHO‐DP12 cell line. Noteworthy, MTA turned out to be the chemical degradation product of the methyl group donor SAM and is consumed by the cells.
Polarization‐dependent second‐harmonic generation for collagen‐based differentiation of breast cancer samples
Authors: Tsafas Vassilis , Gavgiotaki Evangelia , Tzardi Maria , Tsafa Effrosyni , Fotakis Costas , Athanassakis Irene , Filippidis George 
Published: July 2020

AbstractNonlinear optical imaging techniques have been widely used to reveal biological structures for accurate diagnosis at the cellular as well as the tissue level. In the present study, polarization‐dependent second‐harmonic generation (PSHG) was used to determine collagen orientation in breast cancer biopsy tissues (grades 0, I, II and III). The obtained data were processed using fast Fourier transform (FFT) analysis, while second‐harmonic generation (SHG) anisotropy and the “ratio parameter” values were also calculated. Such measurements were shown to be able to distinguish collagen structure modifications in different cancer grades tested. The analysis presented herein suggests that PSHG imaging could provide a quantitative evaluation of the tumor state and the distinction of malignant from benign breast tissues. The obtained results also allowed the development of a biophysical model, which can explain the aforementioned differentiations and is in agreement with the simulations relating the SHG anisotropy values with the mechanical tension applied to the collagen during cancer progression. The current approach could be a step forward for the development of new, nondestructive, label free optical diagnostic tools for cancer reducing the need of recalls and unnecessary biopsies, while potentially improving cancer detection rates.
Early‐stage predictors of the acute phase duration in uncomplicated COVID‐19 pneumonia
Authors: Carallo Claudio , Pugliese Fabiola , Tripolino Cesare , Lenzi Lorenza , Oliveri Chiara , Fasani Giada , Guarrera Giovanni M. , Spagnolli Walter , Cozzio Susanna 
Published: July 2020

AbstractObjectiveIn this study, we aimed to highlight the common early‐stage clinical and laboratory variables independently related to the acute phase duration in patients with uncomplicated coronavirus disease (COVID‐19) pneumonia.MethodsIn hospitalized patients, the acute phase disease duration was followed using the Brescia‐COVID respiratory severity scale. Noninvasive ventilation was administered based on clinical judgment. Patients requiring oropharyngeal intubation were excluded from the study. For parameters to be measured at the hospital entrance, age, clinical history, National Early Warning Score 2 (a multiparametric score system), partial pressure of oxygen in arterial blood/fraction of inspired oxygen (P/F ratio), C‐reactive protein, and blood cell count were selected.ResultsIn 64 patients, age (direct relationship), P/F, and platelet number (inverse relationship) independently accounted for 43% of the acute phase duration of the disease (P < .001).ConclusionsFor the first time, the present results revealed that the acute phase duration of noncomplicated pneumonia, resulting from severe acute respiratory syndrome coronavirus 2, is independently predicted from a patient's age, as well as based on the hospital entrance values of P/F ratio and peripheral blood platelet count.
Therapeutic applications of chelating drugs in iron metabolic disorders of the brain and retina
Authors: Shahandeh Ali , Bui Bang V. , Finkelstein David I. , Nguyen Christine T. O. 
Published: July 2020

AbstractIron is essential for normal cellular function, however, excessive accumulation of iron in neural tissue has been implicated in both cortical and retinal diseases. The exact role of iron in the pathogenesis of neurodegenerative disorders remains incompletely understood. However, iron‐induced damage to the brain and retina is often attributed to the redox ability of iron to generate dangerous free radicals, which exacerbates local oxidative stress and neuronal damage. Iron chelators are compounds designed to scavenge labile iron, aiding to regulate iron bioavailability. Recently there has been growing interest in the application of chelating agents for treatment of diseases including neurodegenerative conditions, characterized by increased oxidative stress. This article reviews both clinical and preclinical evidence relating to the effectiveness of iron chelation therapy in conditions of iron dyshomeostasis linked to neurodegeneration in the brain and retina. The limitations as well as future opportunities iron chelation therapy are discussed.
Running wild with metaphors: Rethinking the evolution of social enterprise
Authors: Peattie Ken 
Published: July 2020

AbstractUsing new metaphors to characterize social enterprises may unlock novel and effective ways to better understand their distinctiveness. Metaphors are frequently used to describe and understand social enterprises (S.E.s) as a type of organization. Some of the more popular metaphors may generate unhelpful constraints to, or assumptions within, discussions about S.E.s. Moreover, new types of metaphors may generate new insights into the nature and contribution of S.E.s.
Northern Bobwhite Non‐Breeding Habitat Selection in a Longleaf Pine Woodland
Authors: Kroeger Anthony J. , DePerno Christopher S. , Harper Craig A. , Rosche Sarah B. , Moorman Christopher E. 
Published: July 2020

ABSTRACTEfforts to halt the decline of the northern bobwhite (Colinus virginianus; bobwhite) across its distribution have had limited success. Understanding bobwhite habitat requirements across the annual cycle and at varying scales is essential to aid efforts to conserve bobwhites. We monitored radio‐tagged bobwhites from 2016 to 2018 on a 165‐km2portion of Fort Bragg Military Installation in the Sandhills physiographic region of North Carolina, USA, to determine factors influencing non‐breeding bobwhite habitat selection at multiple scales. We used generalized linear models (GLM) and generalized linear mixed models to assess bobwhite habitat selection at the microsite scale (the immediate vicinity of an animal) and the macrosite scale (across the study area), respectively, by comparing used points to available random points. At the microsite scale, bobwhites strongly selected areas with greater woody understory cover. Also, bobwhite selection increased with greater forb and switchcane (Arundinaria tecta) cover, but this effect plateaued at 65% forb cover and 50% switchcane cover. At the macrosite scale, bobwhites generally selected areas with greater understory cover within a 200‐m radius but avoided areas with >55% understory cover; these areas primarily were located in the core areas of drainages with extensive ericaceous vegetation. Bobwhites selected areas with 3–6 m2/ha hardwood basal area in uplands, potentially because of the availability of mast, but avoided uplands when pine (Pinusspp.) or hardwood basal area exceeded 20 m2/ha or 12 m2/ha, respectively, likely because high basal area is associated with increased shading and subsequent loss of understory cover. In addition, bobwhites selected uplands 1 growing season (≥2‐month period falling entirely between 1 Apr and 1 Oct) post‐fire regardless of burn season. Overall, managers seeking to improve habitat quality for bobwhites in longleaf pine (Pinus palustris) woodlands should employ management practices that maintain available woody understory across the landscape to provide cover during the non‐breeding season. © 2020 The Wildlife Society.