bluuebunny/crossref_metadata_2025_split huggingface dataset:
i4.0, 3D printing, deglobalisation and new manufacturing clusters: The view from Australia
Authors: Rainnie Al 
Published: December 2020

Before the COVID-19 pandemic erupted onto the world stage, a new narrative was apparently beginning to emerge about the impact of i4.0 and new technologies in general, and three-dimensional printing in particular, on the future of work and employment. This was to have particular geographical implications for the manufacturing sector in particular. Proponents of i4.0 also suggested that this process, particularly in manufacturing, would promote the re-emergence of patterns of clustering. Developments in advanced manufacturing, particularly three-dimensional printing, would accelerate and reinforce these tendencies. This article looks at the role that three-dimensional printing is supposed to play in the new world, and in particular, critically evaluates its role in reinforcing the trend towards deglobalisation on the one hand, and, on the other, new clusters of manufacturing industry. JEL code: O33
Understanding the genetic determinant of severity in viral diseases: a case of SARS-Cov-2 infection
Authors: Oladejo Babayemi Olawale , Adeboboye Covenant Femi , Adebolu Tinuola Tokunbo 
Published: December 2020

AbstractBackgroundNumerous research studies have identified specific human gene variants that affect enhanced susceptibility to viral infections. More recently is the current pandemic where the SARS-CoV-2 infection has shown a high degree of person-to-person clinical variability. A wide range of disease severity occurs in the patients’ experiences, from asymptomatic cases, mild infections to serious life threatening conditions requiring admission into the intensive care unit (ICU).Main body of the abstractAlthough, it is generally reported that age and co-morbidities contribute significantly to the variations in the clinical outcome of the scourge of COVID-19, a hypothetical question of the possibility of genetic involvement in the susceptibility and severity of the disease arose when some unique severe outcomes were seen among young patients with no co-morbidity. The role human genetics play in clinical response to the viral infections is scarcely understood; however, several ongoing researches all around the world are currently focusing on possible genetic factors. This review reports the possible genetic factors that have been widely studied in defining the severity of viral infections using SARS-CoV-2 as a case study. These involve the possible involvements of ACE2, HLA, and TLR genes such as TLR7 and TLR3 in the presentation of a more severe condition.Short conclusionUnderstanding these variations could help to inform efforts to identify people at increased risk of infection outbreaks through genetic diagnosis of infections by locating disease genes or mutations that predispose patients to severe infection. This will also suggest specific targets for therapy and prophylaxis.
Review of the hydrodynamic challenges in the design of elevated pile cap foundations for sea-crossing bridges
Authors: Wei Kai , Zhou Cong , Zhang Mingjin , Ti Zilong , Qin Shunquan 
Published: December 2020

AbstractWith the increasing demand for land transportation in coastal areas, the number of sea-crossing bridges has increased rapidly. In the construction of sea-crossing bridges, the elevated pile cap foundation is one of the most commonly used foundation types. This paper summarizes four main aspects of the research on the hydrodynamic effects on elevated pile cap foundations through timing analysis and keyword co-occurrence analysis. The relevant studies are reviewed from the aspects of waves, currents, and their interactions; the hydrodynamic load on the elevated pile cap foundation; fluid-structure interactions; and the structural responses of bridges that are supported by elevated pile cap foundations. Finally, the following future prospects for hydrodynamic studies of elevated pile cap foundations for the sea-crossing bridge have been discussed, which include wave-current interaction mechanism, wave-current load, fully coupled fluid-structure interactions, and structural dynamic response under hydrodynamic combined with the other hazards.
First-order transition in trigonal structure CaMn2P2
Authors: Li Y. J. , Jin F. , Mi Z. Y. , Guo J. , Wu W. , Yu Z. H. , Wu D. S. , Na S. H. , Mu C. , Zhou X. B. , Li Z. , Liu K. , Sun L. L. , Zhang Q. M. , Xiang T. , Li G. , Luo J. L. 
Published: December 2020

Abstract
We report structural and physical properties of the single crystalline

. The X-ray diffraction (XRD) results show that

adopts the trigonal

-type structure. Temperature-dependent electrical resistivity

measurements indicate an insulating ground state for

with activation energies of 40 meV and 0.64 meV for two distinct regions, respectively. Magnetization measurements show no apparent magnetic phase transition under 400 K. Different from other

, Sr, and Ba, and

, As, and Sb) compounds with the same structure, heat capacity

and

reveal that

has a first-order transition at

and the transition temperature shifts to high temperature upon increasing pressure. The emergence of plenty of new Raman modes below the transition, clearly suggests a change in symmetry accompanying the transition. The combination of the structural, transport, thermal and magnetic measurements points to an unusual origin of the transition.
Topological order of the Rys F-model and its breakdown in realistic square spin ice: Topological sectors of Faraday loops
Authors: Nisoli Cristiano 
Published: December 2020

Abstract
Both the Rys F-model and antiferromagnetic square ice possess the same ordered, antiferromagnetic ground state, but the ordering transition is of second order in the latter, and of infinite order in the former. To tie this difference to topological properties and their breakdown, we introduce a Faraday lines representation where loops carry the energy and magnetization of the system. Because the F-model does not admit monopoles, its Faraday loops have distinct topological properties, absent in square ice, and which allow for a natural partition of its phase space into topological sectors. Then, the Néel temperature corresponds to a transition from topologically trivial to non-trivial Faraday loops. Because magnetization is a homotopy invariant of the Faraday loops, and it is zero for topologically trivial ones, the susceptibility is zero below a critical field. In square spin ice, instead, monopoles destroy the homotopy invariance and the parity distinction among loops, thus erasing this rich topological structure. Consequently, even trivial loops can be magnetized in square ice, and their susceptibility is never zero.
A novel approach to seamless simulations of compact hadron therapy systems for self-consistent evaluation of dosimetric and radiation protection quantities
Authors: Hernalsteens C. , Tesse R. , Boogert S. T. , Flandroy Q. , Fuentes C. , Gnacadja E. , Nevay L. J. , Pauly N. , Ramoisiaux E. , Shields W. , Stichelbaut F. , Vandenhoeke A. 
Published: December 2020

Abstract
Hadron therapy installations are evolving towards more compact systems that require higher-quality beams for advanced treatment modalities such as proton flash and arc therapy. Therefore the accurate modelling of present and next-generation systems poses new challenges where the simulations require both magnetic beam transport and particle-matter interactions. We present a novel approach to building simulations of beam delivery systems at a level suitable for clinical applications while seamlessly providing the computation of quantities relevant for beam dose deposition, radiation protection assessment, and shielding activation determination. A realistic model of the Ion Beam Applications (IBA) Proteus® One system is developed using Beam Delivery Simulation (BDSIM), based on Geant4, that uniquely allows simulation using a single model. Its validation against measured data is discussed in detail. The first results of self-consistent simulations for beam delivery and equivalent ambient dose are presented. The results show that our approach successfully models the complex interactions between the beam transport and its interactions with the system for relevant clinical scenarios at an acceptable computational cost.
A Novel Type of Extreme Insulin Resistance: Nonhypoglycemic Insulin Autoimmune Syndrome
Authors: Liu He , Liang Siyu , Li Yu , Fu Junling , Chen Shi , Li Ming , Zhu Huijuan , Pan Hui , Wang Ou , Yuan Tao , Mao Jiangfeng , Qin Yan , Li Yuxiu 
Published: December 2020

AbstractContextExtreme insulin resistance is caused by genetic defects intersecting with the insulin action pathway or by the insulin receptor antibodies. Insulin autoimmune syndrome (IAS) is not considered one of the causes of extreme insulin resistance.ObjectiveThis work aimed to expand the current knowledge of extreme insulin resistance and to propose the diagnostic criteria and management strategy of a novel type of extreme insulin resistance.MethodsA patient with IAS never experienced hypoglycemia but had persistent hyperglycemia and extreme insulin resistance with treatment with 200 U of intravenous insulin per day. Immunoreactive insulin (IRI), free insulin, and total insulin were measured. The ratio of free insulin to total insulin (insulin-free ratio, IFR) was calculated.ResultsExtreme insulin resistance has not been reported to be caused by IAS. At admission, IRI and free insulin were undetectable in our patient; total insulin was more than 20 160 pmol/L; and the IFR was lower than 0.03% (control, 90.9%). After adding 500 U porcine insulin to the precipitate containing insulin antibodies, the IRI was still undetectable. Since the patient started glucocorticoid therapy, the free insulin has gradually increased to 11.16 pmol/L, his total insulin has decreased to 5040 pmol/L, and the IFR has increased to 18.26%. Intravenous insulin was stopped, with good glycemic control.ConclusionHigh-affinity insulin autoantibodies with a large capacity can induce a novel type of extreme insulin resistance characterized by extremely high total insulin and very low free insulin levels. The IFR can be used to evaluate therapeutic effects.
Distant Metastases From Childhood Differentiated Thyroid Carcinoma: Clinical Course and Mutational Landscape
Authors: Nies Marloes , Vassilopoulou-Sellin Rena , Bassett Roland L , Yedururi Sireesha , Zafereo Mark E , Cabanillas Maria E , Sherman Steven I , Links Thera P , Waguespack Steven G 
Published: December 2020

Abstract

Context
Distant metastases (DM) from childhood differentiated thyroid carcinoma (DTC) are uncommon and published studies are limited.

Objective
This work aimed to describe the outcomes of patients with DM from childhood DTC and to evaluate the molecular landscape of these tumors.

Methods
A retrospective study was conducted at a tertiary cancer center including patients with pediatric DTC (diagnosed at age ≤ 18 years from 1946 to 2019) and DM.

Results
We identified 148 patients; 144 (97%) had papillary thyroid carcinoma (PTC) and 104 (70%) were female. Median age at DTC diagnosis was 13.4 years (interquartile range [IQR], 9.9-15.9 years). Evaluable individuals received a median of 2 (IQR, 1-3) radioactive iodine (RAI) treatments at a median cumulative administered activity of 238.0 mCi (IQR, 147.5-351.0 mCi). The oncogenic driver was determined in 64 of 69 PTC samples: RET fusion (38/64; 59%), NTRK1/3 fusions (18/64; 28%), and the BRAF V600E mutation (8/64; 13%). At last evaluation, 93% had persistent disease. The median overall and disease-specific survival after DTC diagnosis were 50.7 and 52.8 years, respectively. Eight (5%) PTC patients died of disease after a median of 30.7 years (IQR, 20.6-37.6 years).

Conclusion
Childhood DTC with DM persists in most patients despite multiple courses of RAI, but disease-specific death is uncommon, typically occurring decades after diagnosis. Fusion genes are highly prevalent in PTC, and all identified molecular alterations have appropriate targeted therapies. Future studies should focus on expanding genotype-phenotype correlations, determining how to integrate molecularly targeted therapy into treatment paradigms, and relying less on repeated courses of RAI to achieve cure in patients with DM from childhood DTC.
Approach to the Patient with Primary Aldosteronism: Utility and Limitations of Adrenal Vein Sampling
Authors: Turcu Adina F , Auchus Richard 
Published: December 2020

Abstract
Several studies over the past 3 decades document a higher prevalence of primary aldosteronism (PA) among hypertensive patients than generally presumed. PA exists as a spectrum from mild to severe aldosterone excess. Although a variety of PA subtypes exist, the 2 most common are aldosterone-producing adenomas (APAs) and bilateral hyperaldosteronism (BHA). The distinction is important, because APA—and other subtypes, with aldosterone production mostly from 1 adrenal—can be cured surgically, and BHA should be treated medically with mineralocorticoid-receptor antagonists (MRAs). The major shortcomings in the tailored management of patients with possible PA are the low rates of screening for case identification and the expensive and technically challenging imaging and interventional procedures required to distinguish APA from BHA, especially adrenal vein sampling (AVS). When AVS identifies an APA and allows the patient to be cured surgically, the procedure is of great value. In contrast, the patient with BHA is treated with MRA whether AVS is performed or not. Consequently, it is prudent to gauge how likely it is to benefit from imaging and AVS in each case prior to embarking on these studies. The explosion of information about PA in the past decade, including predictors of APA and of surgical benefit, are useful in limiting the evaluation for some patients with a positive PA screening test. This article will review our suggestions for approaching these patients in a pragmatic style, recognizing the limitations to even the best resources and facilities.
A Panel of 6 Biomarkers Significantly Improves the Prediction of Type 2 Diabetes in the MONICA/KORA Study Population
Authors: Thorand Barbara , Zierer Astrid , Büyüközkan Mustafa , Krumsiek Jan , Bauer Alina , Schederecker Florian , Sudduth-Klinger Julie , Meisinger Christa , Grallert Harald , Rathmann Wolfgang , Roden Michael , Peters Annette , Koenig Wolfgang , Herder Christian , Huth Cornelia 
Published: December 2020

AbstractContextImproved strategies to identify persons at high risk of type 2 diabetes are important to target costly preventive efforts to those who will benefit most.ObjectiveThis work aimed to assess whether novel biomarkers improve the prediction of type 2 diabetes beyond noninvasive standard clinical risk factors alone or in combination with glycated hemoglobin A1c (HbA1c).MethodsWe used a population-based case-cohort study for discovery (689 incident cases and 1850 noncases) and an independent cohort study (262 incident cases, 2549 noncases) for validation. An L1-penalized (lasso) Cox model was used to select the most predictive set among 47 serum biomarkers from multiple etiological pathways. All variables available from the noninvasive German Diabetes Risk Score (GDRSadapted) were forced into the models. The C index and the category-free net reclassification index (cfNRI) were used to evaluate the predictive performance of the selected biomarkers beyond the GDRSadapted model (plus HbA1c).ResultsInterleukin-1 receptor antagonist, insulin-like growth factor binding protein 2, soluble E-selectin, decorin, adiponectin, and high-density lipoprotein cholesterol were selected as the most relevant biomarkers. The simultaneous addition of these 6 biomarkers significantly improved the predictive performance both in the discovery (C index [95% CI], 0.053 [0.039-0.066]; cfNRI [95% CI], 67.4% [57.3%-79.5%]) and the validation study (0.034 [0.019-0.053]; 48.4% [35.6%-60.8%]). Significant improvements by these biomarkers were also seen on top of the GDRSadapted model plus HbA1c in both studies.ConclusionThe addition of 6 biomarkers significantly improved the prediction of type 2 diabetes when added to a noninvasive clinical model or to a clinical model plus HbA1c.
Targeted Metabolomics as a Tool in Discriminating Endocrine From Primary Hypertension
Authors: Erlic Zoran , Reel Parminder , Reel Smarti , Amar Laurence , Pecori Alessio , Larsen Casper K , Tetti Martina , Pamporaki Christina , Prehn Cornelia , Adamski Jerzy , Prejbisz Aleksander , Ceccato Filippo , Scaroni Carla , Kroiss Matthias , Dennedy Michael C , Deinum Jaap , Langton Katharina , Mulatero Paolo , Reincke Martin , Lenzini Livia , Gimenez-Roqueplo Anne-Paule , Assié Guillaume , Blanchard Anne , Zennaro Maria Christina , Jefferson Emily , Beuschlein Felix 
Published: December 2020

AbstractContextIdentification of patients with endocrine forms of hypertension (EHT) (primary hyperaldosteronism [PA], pheochromocytoma/paraganglioma [PPGL], and Cushing syndrome [CS]) provides the basis to implement individualized therapeutic strategies. Targeted metabolomics (TM) have revealed promising results in profiling cardiovascular diseases and endocrine conditions associated with hypertension.ObjectiveUse TM to identify distinct metabolic patterns between primary hypertension (PHT) and EHT and test its discriminating ability.MethodsRetrospective analyses of PHT and EHT patients from a European multicenter study (ENSAT-HT). TM was performed on stored blood samples using liquid chromatography mass spectrometry. To identify discriminating metabolites a “classical approach” (CA) (performing a series of univariate and multivariate analyses) and a “machine learning approach” (MLA) (using random forest) were used.The study included 282 adult patients (52% female; mean age 49 years) with proven PHT (n = 59) and EHT (n = 223 with 40 CS, 107 PA, and 76 PPGL), respectively.ResultsFrom 155 metabolites eligible for statistical analyses, 31 were identified discriminating between PHT and EHT using the CA and 27 using the MLA, of which 16 metabolites (C9, C16, C16:1, C18:1, C18:2, arginine, aspartate, glutamate, ornithine, spermidine, lysoPCaC16:0, lysoPCaC20:4, lysoPCaC24:0, PCaeC42:0, SM C18:1, SM C20:2) were found by both approaches. The receiver operating characteristic curve built on the top 15 metabolites from the CA provided an area under the curve (AUC) of 0.86, which was similar to the performance of the 15 metabolites from MLA (AUC 0.83).ConclusionTM identifies distinct metabolic pattern between PHT and EHT providing promising discriminating performance.
Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations
Authors: Seraphim Carlos Eduardo , Canton Ana Pinheiro Machado , Montenegro Luciana , Piovesan Maiara Ribeiro , Macedo Delanie B , Cunha Marina , Guimaraes Aline , Ramos Carolina Oliveira , Benedetti Anna Flavia Figueiredo , de Castro Leal Andrea , Gagliardi Priscila C , Antonini Sonir R , Gryngarten Mirta , Arcari Andrea J , Abreu Ana Paula , Kaiser Ursula B , Soriano-Guillén Leandro , Escribano-Muñoz Arancha , Corripio Raquel , Labarta José I , Travieso-Suárez Lourdes , Ortiz-Cabrera Nelmar Valentina , Argente Jesús , Mendonca Berenice B , Brito Vinicius N , Latronico Ana Claudia 
Published: December 2020

Abstract

Context
Loss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most common monogenic cause of familial central precocious puberty (CPP).

Objective
To describe the clinical and hormonal features of a large cohort of patients with CPP due to MKRN3 mutations and compare the characteristics of different types of genetic defects.

Methods
Multiethnic cohort of 716 patients with familial or idiopathic CPP screened for MKRN3 mutations using Sanger sequencing. A group of 156 Brazilian girls with idiopathic CPP (ICPP) was used as control group.

Results
Seventy-one patients (45 girls and 26 boys from 36 families) had 18 different loss-of-function MKRN3 mutations. Eight mutations were classified as severe (70% of patients). Among the 71 patients, first pubertal signs occurred at 6.2 ± 1.2 years in girls and 7.1 ± 1.5 years in boys. Girls with MKRN3 mutations had a shorter delay between puberty onset and first evaluation and higher follicle-stimulating hormone levels than ICPP. Patients with severe MKRN3 mutations had a greater bone age advancement than patients with missense mutations (2.3 ± 1.6 vs 1.6 ± 1.4 years, P = .048), and had higher basal luteinizing hormone levels (2.2 ± 1.8 vs 1.1 ± 1.1 UI/L, P = .018) at the time of presentation. Computational protein modeling revealed that 60% of the missense mutations were predicted to cause protein destabilization.

Conclusion
Inherited premature activation of the reproductive axis caused by loss-of-function mutations of MKRN3 is clinically indistinct from ICPP. However, the type of genetic defect may affect bone age maturation and gonadotropin levels.
Selenium in Endocrinology—Selenoprotein-Related Diseases, Population Studies, and Epidemiological Evidence
Authors: Köhrle Josef 
Published: December 2020

AbstractSelenium (Se), apart from iodine, iron, and calcium, is one of the nutrient-derived key elements strongly affecting the endocrine system. However, no specific hormonal “feedback” regulation for Se status has yet been identified, in contrast to the fine-tuned hormone network regulating Ca2+ and phosphate balance or hepcidin-related iron status.Since its discovery as an essential trace element, the effects of Se excess or deficiency on the endocrine system or components of the hypothalamic-pituitary-periphery feedback circuits, the thyroid hormone axis, glucoregulatory and adrenal hormones, male and female gonads, the musculoskeletal apparatus, and skin have been identified. Analysis of the Se status in the blood or via validated biomarkers such as the hepatically derived selenoprotein P provides valuable diagnostic insight and a rational basis for decision making on required therapeutic or preventive supplementation of risk groups or patients. Endocrine-related epidemiological and interventional evidence linking Se status to beneficial or potentially adverse actions of selected selenoproteins mediating most of the (patho-) physiological effects are discussed in this mini-review. Autoimmune thyroid disease, diabetes and obesity, male fertility, as well as osteoporosis are examples for which observational or interventional studies have indicated Se effects. The currently prevailing concept relating Se and selenoproteins to “oxidative stress,” reactive oxygen species, radical hypotheses, and related strategies of pharmacological approaches based on various selenium compounds will not be the focus. The crucial biological function of several selenoproteins in cellular redox-regulation and specific enzyme reactions in endocrine pathways will be addressed and put in clinical perspective.