bluuebunny/crossref_metadata_2025 huggingface dataset:
DNA content abnormality in oral submucous fibrosis concomitant leukoplakia: A preliminary evaluation of the diagnostic and clinical implications
Authors: Xiao Xuan , Hu Yuhua , Li Chenxi , Shi Linjun , Liu Wei
Published: May 2020

Oral submucous fibrosis (OSF) is an insidious chronic oral and oropharyngeal potentially malignant disorder. Our previously studies reported that DNA image cytometry (ICM) using brushing added in the diagnosis of high‐grade dysplasia and staging of oral leukoplakia (OLK). This preliminary study aimed to investigate the abnormal rate of DNA content in 30 cases of OSF including three cases of OSF concomitant OLK and evaluate their the diagnostic and clinical implications with special emphasis on the OSF concomitant OLK. Brushing and biopsy sample form each patient was processed by DNA‐ICM and histological examination, respectively. The results of DNA‐ICM analysis showed that all the lesions from the 27 patients with OSF only were identified as normal DNA content. Strikingly, two of three cases of OSF concomitant OLK were identified as abnormal DNA content, and one case of whom progressed to early oral squamous cell carcinoma at the follow‐up of 31 months. Collectively, this preliminary evaluation revealed that DNA content abnormality was hardly observed in OSF only; however, it may be usually observed in OSF concomitant OLK, whom should be monitored on a priority basis for early detection of carcinoma. Multicenter large studies are needed to validate the findings of the current study.
Expression of cyclooxygenase‐2 in imprint smears of endometrial carcinoma
Authors: Kosmas Konstantinos , Mitropoulou Georgia , Stamoulas Marios , Marouga Anna
Published: May 2020

Background

Worldwide, endometrial carcinoma is one of the most frequently diagnosed cancers among women and a considerable cause of death. The aims of this study were to determine the expression of cyclooxygenase‐2 (COX‐2) in endometrial adenocarcinoma in imprint smears as an alternative technique and to correlate the results with clinicopathologic parameters of primary untreated endometrial cancer patients.

Methods

One hundred twenty‐six patients with endometrial carcinoma were evaluated with samples freshly resected after a total abdominal hysterectomy during a 29‐month period. The cytologic imprint smears were obtained by touching the cut surface of cancer tissues and the expression of COX‐2 was assessed by immunocytochemistry.

Results

The positive expression of COX‐2 in malignant cells, was accompanied by morphologic features of more aggressiveness (pathogenetic type II, advanced clinical stage, mainly high grade, deep myometrial involvement >1/2) tumors and the affected from the disease lymph nodes cases showed higher positivity (41.2%) than the non‐affected (13.4%).

Conclusion

Immunocytochemical findings from COX‐2 stain in cancer cells could be a predictor of prognosis in most cases in endometrial cytology with imprint smears. Furthermore, positive expression of COX‐2 in cancer cells was related to morphologic features of more aggressiveness tumors.
Internet‐based interpretation bias modification for body dissatisfaction: A three‐armed randomized controlled trial
Authors: Dietel Fanny Alexandra , Zache Carina , Bürkner Paul‐Christian , Schulte Johanna , Möbius Martin , Bischof Annika , Wilhelm Sabine , Buhlmann Ulrike
Published: May 2020

Objective

Appearance‐related interpretation bias is postulated to play a role in the maintenance of body dissatisfaction (BD), a risk factor for body dysmorphic disorder (BDD), and eating disorders (ED). Cognitive bias modification for interpretation (CBM‐I) has been shown to reduce maladaptive interpretation bias and symptoms in various emotional disorders. This study investigated the acceptability and efficacy of an easily disseminable, web‐based CBM‐I program for BD.

Methods

Individuals with high BD (N = 318) were randomized to a multi‐session CBM‐I (Sentence Word Association Paradigm [SWAP] with feedback) vs. control (SWAP without feedback) versus waitlist condition. Interpretation bias, BD and associated symptoms were assessed at baseline and post‐intervention. Symptoms were monitored up to 1‐week and 4‐week follow‐up. We further investigated transference effects to stress reactivity, as predicted by cognitive‐behavioral models, at post‐intervention.

Results

Appearance‐related CBM‐I led to a differential pre–post increase in adaptive interpretation patterns, particularly for appearance‐related and social situations (d = 0.65–1.18). Both CBM‐I and control training reduced BD, BDD symptom severity, and depression. However, CBM‐I (vs. control and waitlist) improved appearance‐related quality of life (d = 0.51), self‐esteem (d = 0.52), and maladaptive appearance‐related beliefs (d = 0.47). State stress reactivity was overall reduced in the CBM‐I condition (vs. waitlist). Intervention effects largely held stable up to follow‐ups. Treatment satisfaction was comparable to other CBM‐I studies, with low rates of adverse reactions.

Discussion

These findings support assumptions of cognitive‐behavioral models for BD, BDD, and ED, and suggest that web‐based CBM‐I is an efficacious and acceptable intervention option.
Prognostic significance of right ventricular hypertrophy and systolic function in Anderson–Fabry disease
Authors: Graziani Francesca , Lillo Rosa , Panaioli Elena , Pieroni Maurizio , Camporeale Antonia , Verrecchia Elena , Sicignano Ludovico Luca , Manna Raffaele , Lombardo Antonella , Lanza Gaetano Antonio , Crea Filippo
Published: May 2020

Aims

Right ventricular hypertrophy (RVH) is a common finding in Anderson–Fabry disease (AFD), but the prognostic role of right ventricular (RV) involvement has never been assessed. The aim of our study was to evaluate the prognostic significance of RVH and RV systolic function in AFD.

Methods and results

Forty‐five AFD patients (56% male patients) with extensive baseline evaluation, including assessment of RVH and RV systolic function, were followed‐up for an average of 51.2 ± 11.4 months. RV systolic function was assessed by standard and tissue Doppler echocardiography. Cardiovascular events were defined as new‐onset atrial fibrillation (AF), sustained ventricular arrhythmias, heart failure, or pacemaker/implantable cardioverter defibrillator implantation; renal events were defined as progression to dialysis and/or renal transplantation or significant worsening of glomerular filtration rate; and cerebrovascular events were defined as transient ischaemic attack or stroke.

Fourteen patients (31.1%) presented RVH, while RV systolic function was normal in all cases. During the follow‐up period, 13 patients (28.8%, 11 male) experienced 18 major events, including two deaths. Cardiovascular events occurred in eight patients (17.7%). The most common event was pacemaker/implantable cardioverter defibrillator implantation (six patients, 13.3%), followed by AF (three cases, 6.6%). Only one case of worsening New York Heart Association class (from II to III and IV) was observed. Ischaemic stroke occurred in three cases (6.6%). Renal events were recorded in three patients (6.6%). At univariate analysis, several variables were associated with the occurrence of events, including RVH (HR: 7.09, 95% CI: 2.17 to 23.14, P = 0.001) and indexes of RV systolic function (tricuspid annular plane systolic excursion HR: 0.77, 95% CI: 0.62 to 0.96, P = 0.02; and RV tissue Doppler systolic velocity HR: 0.76, 95% CI: 0.61 to 0.93, P = 0.01). At multivariate analysis, proteinuria (HR:8.3, 95% CI: 2.88 to 23.87, P < 0.001) and left ventricular mass index (HR: 1.02, 95% CI: 1.00 to 1.03, P = 0.03) emerged as the only independent predictors of outcome.

Conclusions

RVH and RV systolic function show significant association with clinical events in AFD, but only proteinuria and left ventricular mass index emerged as independent predictors of outcome. Our findings suggest that RV involvement does not influence prognosis in AFD and confirm that renal involvement and left ventricular hypertrophy are the main determinant of major cardiac and non‐cardiac events.
Template‐free Electrosynthesis of Platinum Nano‐Cauliflowers for Catalysing Electron Transfer Reaction of Plutonium
Authors: Ambolikar Arvind S. , Guin Saurav K.
Published: May 2020

A coupled‐oxido‐reductive multiple‐potentiostatic pulse strategy was developed to electrochemically prepare platinum‐nano‐cauliflowers (PtNCFs) on indium‐tin‐oxide (ITO) coated glass electrode. The mechanism of electrocrystallization was studied during the formation of PtNCFs on ITO. By virtue of that synthesis strategy, the PtNCFs/ITO surface could catalyse the quasi‐reversible electron transfer reaction of plutonium (Pu) (IV)/(III) redox couple in aqueous sulphuric acid solution compared to bare ITO.
Versatile lab‐scale test rig for experimental analysis and heat transfer modelling of thermally activated building systems
Authors: Tejero‐González Ana , Velasco‐Gómez Eloy , Andrés‐Chicote Manuel , Rey‐Martínez Francisco Javier
Published: May 2020

Thermally activated building systems (TABS) constitute an energy efficient building conditioning solution through the combination of low‐exergy space heating and cooling and thermal energy storage (TES) features. Their implementation is, however, complex, due to the number of factors involved in their design and operation. Mathematical models are useful to overcome this, but require validation, while experimental setups to study sensible TES can be bulky and difficult to handle. In this work, a homogeneous concrete slab and a multilayer concrete‐sand‐gravel slab are built and activated with constant heat flow. Both slabs are experimentally tested and their thermal behaviour is modelled through a 1D finite difference method (FDM). Results demonstrate that materials such as sand and gravel can be used to provide relevant experimental data for TABS heat transfer model validation through a versatile lab test rig. A 1D FDM proves to be a simple, accurate method to predict the thermal behaviour of the slabs during transient peaks in charging and discharging processes as well as during steady‐state operation, given that most of the time absolute errors remain below the measurement uncertainty thresholds. Finally, this paper sets a basis to support future experimental work on sensible TES and provides data for further model validation.
Microplastic Prevalence in 4 Oregon Rivers Along a Rural to Urban Gradient Applying a Cost-Effective Validation Technique
Authors: Valine Amy E. , Peterson Ashley E. , Horn Dorothy A. , Scully-Engelmeyer Kaegan M. , Granek Elise F.
Published: May 2020

Microplastics are ubiquitous in our environment and are found in rivers, streams, oceans, and even tap water. Riverine microplastics are relatively understudied compared with those in marine ecosystems. In Oregon (USA), we sampled 8 sites along 4 freshwater rivers spanning rural to urban areas to quantify microplastics. Plankton tow samples from sites along the Columbia, Willamette, Deschutes, and Rogue Rivers were analyzed using traditional light microscopy for initial microplastic counts. Application of Nile Red dye to validate microplastics improved microplastic identification, particularly for particles (Wilcox test; p = 0.001). Nile Red–corrected microfiber abundance was correlated with human population within 5 km of the sample site (R² = 0.554), although no such relationship was observed between microparticles and population (R² = 0.183). We found that plastics were present in all samples from all sites, despite the range from undeveloped, remote stretches of river in rural areas to metropolitan sites within Portland (OR, USA), demonstrating the pervasive presence of plastic pollution in freshwater ecosystems. Environ Toxicol Chem 2020;39:1590–1598. © 2020 SETAC

Abstract

The 8 microplastic sampling locations and their respective populations within a 5-km radius; population represented by graduated circles. Microplastic fibers/m3 are also graphed to show differences before (gray) and after (orange) the application of Nile Red dye. NR = Nile Red; OMSI = Oregon Museum of Science and Industry; GP Rogue = Grants Pass, Rogue River.
Early predictors of small‐for‐gestational‐age neonates using non‐invasive, low‐cost, and readily available hematological markers
Authors: Levy Ofir , Pariente Gali , Rotem Reut , Yohai David , Weintraub Adi Y.
Published: May 2020

Objective

To evaluate whether neutrophil‐to‐lymphocyte ratio (NLR), a well‐established inflammatory marker, can be used as an early predictor for small‐for‐gestational‐age (SGA) neonates and other adverse pregnancy outcomes.

Methods

A case‐control study compared first‐trimester hematological biomarkers in pregnancies of patients with and without SGA (n=149, n=151, respectively). Demographic, clinical, and obstetrical characteristics and first‐trimester complete blood count were retrieved. Woman with singleton pregnancies who delivered at Soroka University Medical Center between January 2015 and December 2016 were included. Patients with known maternal infections, relevant medications, hematological conditions, and chronic diseases that may alter the blood count, those with multiple pregnancies, and those with congenital or chromosomal abnormalities were excluded. After univariate analysis, a linear regression model was constructed to assess the association between hematological indices and SGA. Receiver operating curves were constructed to evaluate the sensitivity and specificity of NLR.

Results

First‐trimester NLR values of the SGA group were significantly higher compared to controls (3.03 ± 1.68 vs 2.63 ± 1.2, P=0.016). Significantly higher levels of NLR were noted among the severely (<3%) SGA neonates (3.12 ± 1.62 vs 2.62 ± 1.2; P=0.034).

Conclusion

NLR may be an early, clinically useful marker in the prediction of SGA. As blood samples are routinely collected, correct implication of this result may serve as a valuable non‐invasive, low‐cost, readily available predicting tool.
FACSCanto II and LSRFortessa flow cytometer instruments can be synchronized utilizing single‐fluorochrome–conjugated surface‐dyed beads for standardized immunophenotyping
Authors: Cornel Annelisa M. , van der Burght Christine A. J. , Nierkens Stefan , van Velzen Jeroen F.
Published: May 2020

Background

Multiparameter flow cytometry is the preferred method to determine immunophenotypic features of cells present in a wide variety of sample types. Standardization is key to avoid inconsistencies and subjectivity of interpretations between clinical diagnostic laboratories. Among these standardization requirements, synchronization between different flow cytometer instruments is indispensable to obtain comparable results. This study aimed to investigate whether two widely used flow cytometers, the FACSCanto II and LSRFortessa, can be effectively synchronized utilizing calibration bead–based synchronization.

Method

Two FACSCanto II and two LSRFortessa flow cytometers were synchronized with both multicolor hard‐dyed and single‐fluorochrome–conjugated surface‐dyed beads according to the manufacturer's instructions. Cell staining was performed on five whole‐blood samples obtained from healthy controls and were analyzed upon synchronization with the respective synchronization protocols.

Results

Comparability criteria (defined as <15% deviation from the reference instrument) were met with both bead sets when synchronizing different FACSCanto II or LSRFortessa instruments. However, we observed that the criteria could not be met when synchronizing FACSCanto II with LSRFortessa instruments with multicolor hard‐dyed beads. By utilizing single‐fluorochrome–conjugated surface‐dyed beads to determine and adjust PMT voltages, the accepted comparability criteria were successfully met. The protocol has been validated using five different eight‐parameter stained samples.

Conclusion

We show that FACSCanto II and LSRFortessa instruments can effectively be synchronized using single‐fluorochrome–conjugated surface‐dyed beads in case deviation criteria cannot be met using multicolor hard‐dyed beads. Synchronization with single‐fluorochrome–conjugated surface‐dyed beads results in decreased deviations between instruments, allowing comparability criteria to become stricter.
Adjunctive mesenchymal stem/stromal cells augment microvascular function in poststenotic kidneys treated with low‐energy shockwave therapy
Authors: Chen Xiao‐Jun , Zhang Xin , Jiang Kai , Krier James D. , Zhu Xiangyang , Conley Sabena , Lerman Amir , Lerman Lilach O.
Published: May 2020

Effective therapeutic strategies are needed to preserve renal function in patients with atherosclerotic renal artery stenosis (ARAS). Low‐energy shockwave therapy (SW) and adipose tissue‐derived mesenchymal stem/stromal cells (MSCs) both stimulate angiogenesis repair of stenotic kidney injury. This study tested the hypothesis that intrarenal delivery of adipose tissue‐derived MSCs would enhance the capability of SW to preserve stenotic kidney function and structure. Twenty‐two pigs were studied after 16 weeks of ARAS, ARAS treated with a SW regimen (bi‐weekly for 3 weeks) with or without subsequent intrarenal delivery of adipose tissue‐derived MSCs and controls. Four weeks after treatment, single‐kidney renal blood flow (RBF) before and after infusion of acetylcholine, glomerular filtration rate (GFR), and oxygenation were assessed in vivo and the renal microcirculation, fibrosis, and oxidative stress ex vivo. Mean arterial pressure remained higher in ARAS, ARAS + SW, and ARAS + SW + MSC compared with normal. Both SW and SW + MSC similarly elevated the decreased stenotic kidney GFR and RBF observed in ARAS to normal levels. Yet, SW + MSC significantly improved RBF response to acetylcholine in ARAS, and attenuated capillary loss and oxidative stress more than SW alone. Density of larger microvessels was similarly increased by both interventions. Therefore, although significant changes in functional outcomes were not observed in a short period of time, adjunct MSCs enhanced pro‐angiogenic effect of SW to improve renal microvascular outcomes, suggesting this as an effective stratege for long‐term management of renovascular disease.
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan
Authors: Carducci Carla , Amayreh Wajdi , Ababneh Haneen , Mahasneh Amjad , Al Rababah Buthaina , Al Qaqa Kefah , Al Aqeel Momen , Artiola Cristiana , Tolve Manuela , D'Amici Sirio , Shen Nan , Yu Yongguo , Hillert Alicia , Himmelreich Nastassja , Okun Jürgen G. , Hoffmann Georg F. , Blau Nenad
Published: May 2020

Background

Information regarding the prevalence of PKU in the Middle East in comparison to other world regions is scarce, which might be explained by difficulties in the implementation of national newborn screening programs.

Objective

This study seeks for the first time to genotype and biochemically characterize patients diagnosed with hyperphenylalaninemia (HPA) at the Pediatric Metabolic Genetics Clinic at the King Hussein Medical Center, Amman, Jordan.

Methods

A total of 33 patients with HPA and 55 family members were investigated for pterins (neopterin and biopterin) and dihydropteridine reductase (DHPR) activity in dried blood spots. Patients with HPA were genotyped for phenylketonuria (PKU) and the genes involved in tetrahydrobiopterin (BH4) metabolism.

Results

In total 20 patients were diagnosed with PKU due to phenylalanine hydroxylase (PAH) deficiency, 2 with GTP cyclohydrolase I (GTPCH) deficiency, 6 with DHPR deficiency, and 3 with the 6‐pyruvoyl‐tetrahydropterin synthase (PTPS) deficiency. Diagnosis was not possible in 2 patients. This study documents a high percentage of BH4 deficiencies within HPA patients. With one exception, all patients were homozygous for particular gene variants.

Conclusions

This approach enables differentiation between PKU and BH4 deficiencies and, thus, allows for critical selection of a specific treatment strategies.
Token‐curated registry in a scholarly journal: Can blockchain support journal communities?
Authors: Kosmarski Artyom , Gordiychuk Nikolay
Published: May 2020

In this paper, we propose a novel framework for a scholarly journal – a token‐curated registry (TCR). This model originates in the field of blockchain and cryptoeconomics and is essentially a decentralized system where tokens (digital currency) are used to incentivize quality curation of information. TCR is an automated way to create lists of any kind where decisions (whether to include N or not) are made through voting that brings benefit or loss to voters. In an academic journal, TCR could act as a tool to introduce community‐driven decisions on papers to be published, thus encouraging more active participation of authors/reviewers in editorial policy and elaborating the idea of a journal as a club. TCR could also provide a novel solution to the problems of editorial bias and the lack of rewards/incentives for reviewers. In the paper, we discuss core principles of TCR, its technological and cultural foundations, and finally analyse the risks and challenges it could bring to scholarly publishing.
The Fifth WS/DGAT Enzyme of the Bacterium Marinobacter aquaeolei VT8
Authors: Vollheyde Katharina , Yu Dan , Hornung Ellen , Herrfurth Cornelia , Feussner Ivo
Published: May 2020

Wax esters (WE) belong to the class of neutral lipids. They are formed by an esterification of a fatty alcohol and an activated fatty acid. Dependent on the chain length and desaturation degree of the fatty acid and the fatty alcohol moiety, WE can have diverse physicochemical properties. WE derived from monounsaturated long‐chain acyl moieties are of industrial interest due to their very good lubrication properties. Whereas WE were obtained in the past from spermaceti organs of the sperm whale, industrial WE are nowadays mostly produced chemically from fossil fuels. In order to produce WE more sustainably, attempts to produce industrial WE in transgenic plants are steadily increasing. To achieve this, different combinations of WE producing enzymes are expressed in developing Arabidopsis thaliana or Camelina sativa seeds. Here we report the identification and characterization of a fifth wax synthase from the organism Marinobacter aquaeolei VT8, MaWSD5. It belongs to the class of bifunctional wax synthase/acyl‐CoA:diacylglycerol O‐acyltransferases (WSD). The protein was purified to homogeneity. In vivo and in vitro substrate analyses revealed that MaWSD5 is able to synthesize WE but no triacylglycerols. The protein produces WE from saturated and monounsaturated mid‐ and long‐chain substrates. Arabidopsis thaliana seeds expressing a fatty acid reductase from Marinobacter aquaeolei VT8 and MaWSD5 produce WE. Main WE synthesized are 20:1/18:1 and 20:1/20:1. This makes MaWSD5 a suitable candidate for industrial WE production in planta.
Phosphonate cycling supports methane and ethylene supersaturation in the phosphate‐depleted western North Atlantic Ocean
Authors: Sosa Oscar A. , Burrell Timothy J. , Wilson Samuel T. , Foreman Rhea K. , Karl David M. , Repeta Daniel J.
Published: May 2020

In oligotrophic ocean regions, dissolved organic phosphorus (DOP) plays a prominent role as a source of phosphorus (P) to microorganisms. An important bioavailable component of DOP is phosphonates, organophosphorus compounds with a carbon‐phosphorus (C‐P) bond, which are ubiquitous in high molecular weight dissolved organic matter (HMWDOM). In addition to being a source of P, the degradation of phosphonates by the bacterial C‐P lyase enzymatic pathway causes the release of trace hydrocarbon gases relevant to climate and atmospheric chemistry. In this study, we investigated the roles of phosphate and phosphonate cycling in the production of methane (CH4) and ethylene (C2H4) in the western North Atlantic Ocean, a region that features a transition in phosphate concentrations from coastal to open ocean waters. We observed an inverse relationship between phosphate and the saturation state of CH4 and C2H4 in the water column, and between phosphate and the relative abundance of the C‐P lyase marker gene phnJ. In phosphate‐depleted waters, methylphosphonate and 2‐hydroxyethylphosphonate, the C‐P lyase substrates that yield CH4 and C2H4, respectively, were readily degraded in proportions consistent with their abundance and bioavailability in HMWDOM and with the concentrations of CH4 and C2H4 in the water column. We conclude that phosphonate degradation through the C‐P lyase pathway is an important source and a common production pathway of CH4 and C2H4 in the phosphate‐depleted surface waters of the western North Atlantic Ocean and that phosphate concentration can be an important control on the saturation state of these gases in the upper ocean.
Several Sterilization Strategies Maintain the Functionality of Mucin Glycoproteins
Authors: Rickert Carolin Alexandra , Lutz Theresa Monika , Marczynski Matthias , Lieleg Oliver
Published: May 2020

Mucin glycoproteins, the macromolecular components of mucus, combine a broad range of biomedically important properties. Among those is the ability of mucin solutions to act as excellent lubricants. However, to be able to use purified, endogenous mucin glycoproteins as components of a biomedical product, the mucins need to be sterile; this, in turn, makes it necessary to subject the mucins to quite harsh physical treatments, such as heat exposure, autoclaving, UV‐, or γ‐irradiation, which might compromise the functionality of the glycoproteins. Here, it is shown that mucins are indeed able to withstand most of those treatments without suffering significant lubrication impairment or structural degradation. Among those treatments, which left the mucins unharmed, γ‐irradiation is identified to be the most powerful one in terms of inactivating microbial contaminations. The obtained results demonstrate a remarkable sturdiness of mucins, which opens up broad possibilities for them to be further processed into materials, e.g., as parts of biomedical products.
Sustainable Polyesteramides and Copolyamides: Insights into the Copolymerization Behavior of Terpene‐Based Lactams
Authors: Winnacker Malte , Lamparelli David H. , Capacchione Carmine , Güngör Hicran H. , Stieglitz Lucas , Rodewald Katia S. , Schmidt Matthias , Gronauer Thomas F.
Published: May 2020

Sustainable lactams, which are derived from terpenes, are used for the synthesis of different novel copolymers via ring‐opening polymerization. Different conditions are tested and the incorporation of the different monomers into the polymers is elucidated. This gives access to a variety of new polymer structures and their application range is thus remarkably extended.
Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome
Authors: Bitarafan Fatemeh , Razmara Ehsan , Khodaeian Mehrnoosh , Keramatipour Mohammad , Kalhor Alireza , Jafarinia Ehsan , Garshasbi Masoud
Published: May 2020

Background

Marfan syndrome (MFS) is a multi‐systemic autosomal dominant disease of the connective tissue characterized by the early development of thoracic aneurysms/dissections, along with various manifestations of the ocular and skeletal systems. Due to the genetic and clinical heterogeneity, the clinical diagnosis of this disorder is challenging. Loss‐of‐function mutations in FBN1 (encodes fibrillin‐1) lead to MFS type 1. Also, similar mutations in transforming growth factor β receptor 2 (TGFBR2) gene cause MFS type 2. Both proteins involve in TGF‐β signaling.

Methods

In this study, genetic screening using a panel involving 14 genes, especially FBN1 and TGFBR2, were performed on seven representatives affected members of seven unrelated Iranian families suspected with MFS. To confirm the variants, Sanger sequencing was applied to other affected/unaffected members of the families.

Results

A total of 13 patients showed MFS manifestations. Using genetic screening, two novel and three previously reported variants in FBN1 were identified. We also detected two variants (a novel and a previously reported variant) in the TGFBR2 gene.

Conclusion

In this study, we introduce three novel variants identified through gene screening in seven Iranian MFS families. This report is expected to considerably improve genetic counseling for Iranian MFS families. Early precise molecular diagnosis can be helpful for better management and improving the life expectancy of these patients.
Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis
Authors: Juárez‐Osuna Jesús A. , Mendoza‐Ruvalcaba Sandra C. , Porras‐Dorantes Angela , Da Silva‐José Thiago D. , García‐Ortiz José E.
Published: May 2020

Background

Metachromatic Leukodystrophy (MLD, OMIM 250100) is a neurodegenerative disease caused by mutations in the ARSA gene (OMIM 607574) that lead to deficiency in Arylsulfatase A (ASA). ASA pseudodeficiency (PD‐ASA) is a biochemical condition that substantially diminishes ASA activity but is not associated with clinical manifestations. PD‐ASA is associated with the c.1055A>G (p.Asn352Ser) (rs2071421) and c.*96A>G (rs6151429) variants, which have an estimated frequency of 2% in the population.

Objective

To determine the activity of Arylsulfatase A and to identify variants and haplotypes in the ARSA gene in Mexican individuals with pseudodeficiency.

Methods

Two‐hundred apparently healthy individuals were included to determine the enzymatic activity of ASA in leukocytes by spectrophotometric analysis, and identification of the PD‐ASA alleles was performed by PCR‐RFLP assays. Genotypes were confirmed by semi‐automated Sanger sequencing. Haplotypes were constructed using Arlequin v.10.04, and linkage disequilibrium analysis was performed with Cube X.

Results

The enzymatic activity of ASA was determined to be 1.74–2.09 nmol/mg protein/min and later correlated with genotypes and haplotypes. For the (p.Asn352Ser) variant, we found 126 (0.63) individuals with the AA genotype, 62 with AG (0.31) and 12 with GG (0.06); the frequency of the polymorphic allele was 0.215 (86 alleles, 21.5%), and the variant was in HWE (p = .2484). The variant c.*96A>G was also in HWE (p = .2105): 185 individuals (0.925) with the AA genotype, 14 (0.07) with AG, and 1 (0.005) with (GG), with a frequency of 0.04 (4%) for the polymorphic allele. The inference of haplotypes resulted in 312 (0.78) AA, 72 (0.18) GA, and 16 (0.04) GG haplotypes. The AG haplotype was not found. The variants were found to be in linkage disequilibrium (D' = 1). Of the nine possible diplotypes, AA/AG, AA/GG, and AG/GG were not found, in concordance with the hypothesis that the G allele of c.*96A>G does not occur in the absence of the G allele of c.1055A>G. We found a slight correlation between ASA biochemical activity and variants, mainly due to the G allele of c.*96A>G in either genotypes or haplotypes.

Conclusions

In Northwestern Mexico, the presence of PD‐ASA alleles was biochemically and molecularly determined, and the frequencies were found to be in HWE. The frequency of PD‐ASA for the North Western Mexican mestizo is 8%.
Fast T2 mapping using multi‐echo spin‐echo MRI: A linear order approach
Authors: Fatemi Yaghoub , Danyali Habibollah , Helfroush Mohammad Sadegh , Amiri Houshang
Published: May 2020

Purpose

Multi‐echo spin‐echo sequence is commonly used for T2 mapping. The estimated values using conventional exponential fit, however, are hampered by stimulated and indirect echoes leading to overestimation of T2. Here, we present fast analysis of multi‐echo spin‐echo (FAMESE) as a novel approach to decrease the complexity of the search space, which leads to accelerated measurement of T2.

Methods

We developed FAMESE based on mathematical analysis of the Bloch equations in which the search space dimension decreased to only one. Then, we tested it in both phantom and human brain. Bland‐Altman plot was used to assess the agreement between the estimated T2 values from FAMESE and the ones estimated from single‐echo spin‐echo sequence. The reliability of FAMESE was assessed by intraclass correlation coefficients. In addition, we investigated the noise stability of the method in synthetic and experimental data.

Results

In both phantom and healthy participants, FAMESE provided accelerated and SNR‐resistant T2 maps. The FAMESE had a very good agreement with the single‐echo spin echo for the whole range of T2 values. The intraclass correlation coefficient values for FAMESE were excellent (ie, 0.9998 and 0.9860 < intraclass correlation coefficient < 0.9942 for the phantom and humans, respectively).

Conclusion

Our developed method FAMESE could be considered as a candidate for rapid T2 mapping with a clinically feasible scan time.
Clustered coverage orienteering problem of unmanned surface vehicles for water sampling
Authors: Zhang Wei , Wang Kai , Wang Shuaian , Laporte Gilbert
Published: May 2020

This study investigates a clustered coverage orienteering problem (CCOP), which is a generalization of the classical orienteering problem. The problem is widely motivated by the emerging unmanned techniques (eg, unmanned surface vehicles and drones) applied to environmental monitoring. Specifically, the unmanned surface vehicles (USVs) are used to monitor reservoir water quality by collecting samples. In the CCOP, the water sampling sites (ie, the nodes) are grouped into clusters, and a minimum number of nodes must be visited in each cluster. With each node representing a certain coverage area of the water, the objective of the CCOP is to monitor as much as possible the total coverage area in one tour of the USV, considering that overlapping areas provide no additional information. An integer programming model is first formulated through a linearization procedure that captures the overlapping feature. A two‐stage exact algorithm is proposed to obtain an optimal solution to the problem. The efficiency and effectiveness of the two‐stage exact algorithm are demonstrated through experiments on randomly generated instances. The algorithm can effectively solve instances with up to 60 sampling sites.
Magic angle effect on adiabatic T1ρ imaging of the Achilles tendon using 3D ultrashort echo time cones trajectory
Authors: Wu Mei , Ma Yajun , Wan Lidi , Jerban Saeed , Jang Hyungseok , Chang Eric Y. , Du Jiang
Published: May 2020

The protons in collagen‐rich musculoskeletal (MSK) tissues such as the Achilles tendon are subject to strong dipolar interactions which are modulated by the term (3cos2θ‐1) where θ is the angle between the fiber orientation and the static magnetic field B0. The purpose of this study was to investigate the magic angle effect in three‐dimensional ultrashort echo time Cones Adiabatic T1ρ (3D UTE Cones‐AdiabT1ρ) imaging of the Achilles tendon using a clinical 3 T scanner. The magic angle effect was investigated by Cones‐AdiabT1ρ imaging of five cadaveric human Achilles tendon samples at five angular orientations ranging from 0° to 90° relative to the B0 field. Conventional Cones continuous wave T1ρ (Cones‐CW‐T1ρ) and Cones T2* (Cones‐T2*) sequences were also applied for comparison. On average, Cones‐AdiabT1ρ increased 3.6‐fold from 13.6 ± 1.5 ms at 0° to 48.4 ± 5.4 ms at 55°, Cones‐CW‐T1ρ increased 6.1‐fold from 7.0 ± 1.1 ms at 0° to 42.6 ± 5.2 ms at 55°, and Cones‐T2* increased 12.3‐fold from 2.9 ± 0.5 ms at 0° to 35.8 ± 6.4 ms at 55°. Although Cones‐AdiabT1ρ is still subject to significant angular dependence, it shows a much‐reduced magic angle effect compared to Cones‐CW‐T1ρ and Cones‐T2*, and may be used as a novel and potentially more effective approach for quantitative evaluation of the Achilles tendon and other MSK tissues.
Accurate H‐shaped absorbing boundary condition in frequency domain for scalar wave propagation in layered half‐space
Authors: Li Huifang , Zhao Mi , Du Xiuli
Published: May 2020

An accurate absorbing boundary condition (ABC) is developed in frequency domain for finite element analysis of scalar wave propagation in unbounded layered half‐space. The proposed ABC is H‐shaped line that consists of two parts: a new ABC at horizontal bottom boundary of finite domain to replace semiinfinite strip below horizontal boundary and between two vertical boundaries, and a general consistent ABC at vertical lateral boundary to replace semiinfinite layered half‐space outside vertical boundary. The key point for constructing the ABC is that a new continued fraction (CF) is presented to expand dynamic stiffness of underlying half‐space, and the CF‐based stress‐displacement relationship is then transformed into an auxiliary variable system with square of horizontal wavenumber. The ABC has only one undetermined real parameter that is the CF‐order independent of frequency and incidence angle of propagating outgoing waves. The parameter can be chosen relatively small value to achieve an accurate ABC. Moreover, the ABC can couple seamlessly with finite element method of finite domain. The finite domain can be chosen very small size due to high accuracy of the ABC. Numerical examples are finally given to demonstrate the effectiveness of the ABC.
Red and green loops help uncover missing feedbacks in a coral reef social–ecological system
Authors: Dajka Jan‐Claas , Woodhead Anna J. , Norström Albert V. , Graham Nicholas A. J. , Riechers Maraja , Nyström Magnus
Published: May 2020

Social–ecological systems (SES) exhibit complex cause‐and‐effect relationships. Capturing, interpreting, and responding to signals that indicate changes in ecosystems is key for sustainable management in SES. Breaks in this signal–response chain, when feedbacks are missing, will allow change to continue until a point when abrupt ecological surprises may occur.

In these situations, societies and local ecosystems can often become uncoupled. In this paper, we demonstrate how the red loop–green loop (RL–GL) concept can be used to uncover missing feedbacks and to better understand past social–ecological dynamics. Reinstating these feedbacks in order to recouple the SES may ultimately create more sustainable systems on local scales.

The RL–GL concept can uncover missing feedbacks through the characterization of SES dynamics along a spectrum of human resource dependence. Drawing on diverse qualitative and quantitative data sources, we classify SES dynamics throughout the history of Jamaican coral reefs along the RL–GL spectrum. We uncover missing feedbacks in red‐loop and red‐trap scenarios from around the year 600 until now. The Jamaican coral reef SES dynamics have moved between all four dynamic states described in the RL–GL concept: green loop, green trap, red loop and red trap.

We then propose mechanisms to guide the current unsustainable red traps back to more sustainable green loops, involving mechanisms of seafood trade and ecological monitoring. By gradually moving away from seafood exports, Jamaica may be able to return to green‐loop dynamics between the local society and their locally sourced seafood. We discuss the potential benefits and drawbacks of this proposed intervention and give indications of why an export ban may insure against future missing feedbacks and could prolong the sustainability of the Jamaican coral reef ecosystem.

Our approach demonstrates how the RL–GL approach can uncover missing feedbacks in a coral reef SES, a way the concept has not been used before. We advocate for how the RL–GL concept in a feedback setting can be used to synthesize various types of data and to gain an understanding of past, present and future sustainability that can be applied in diverse social–ecological settings.

A free Plain Language Summary can be found within the Supporting Information of this article.
Preparation of polypropylene/ethylene‐propylene‐diene terpolymer/nitrile rubber ternary thermoplastics vulcanizates with good mechanical properties and oil resistance by core‐shell dynamic vulcanization
Authors: Lv Fei , Fan Jianfeng , Huang Jiarong , Cao Liming , Yan Xuesong , Ge Ling , Abubakar Saifudin , Chen Yukun
Published: May 2020

As the most successful commercialized thermoplastic vulcanizates (TPVs), polypropylene (PP)/ethylene propylene rubber (EPDM) TPVs exhibit poor oil resistance. In this work, we prepared PP/EPDM/butadiene acrylonitrile rubber (NBR) ternary TPVs with good oil resistance using core‐shell dynamic vulcanization. According to the theoretical analysis of the spreading coefficient and the transmission electron microscopy results, the rubber phases exhibited a special core‐shell structure, in which the cross‐linkedNBR‐core was encapsulated by the EPDM‐shell. The core‐shell structure effectively improved the interfacial compatibility between PP and NBR phase as the EPDM‐shell could avoid the direct contact of them, thus improving the mechanical properties of the TPVs. For example, the PP/EPDM/NBR (40/30/30) ternary TPV showed enhanced tensile strength of 12.57 MPa, compared with 10.71 MPa of PP/EPDM (40/60) TPV and 11.11 MPa of PP/NBR (40/60) TPV, respectively. Moreover, the oil resistance of the TPVs was also improved. Compared with PP/EPDM TPV, the change rates in mass, volume, tensile strength and elongation at break of PP/EPDM/NBR TPV after oil immersion decreased by 42.18%, 48.69%, 52.68% and 28.77%, respectively.
Preparation of electrospun shape memory polyurethane fibers in optimized electrospinning conditions via response surface methodology
Authors: Banikazemi Simin , Rezaei Mostafa , Rezaei Pezhman , Babaie Amin , Eyvazzadeh‐Kalajahi Alireza
Published: May 2020

Herein, the electrospinning method, as an effective approach, was utilized to fabricate poly (ε‐caprolactone)‐based polyurethane (PCL‐based PU) fibers. PCL was synthesized by ring‐opening polymerization, and characterized by proton nuclear magnetic resonance (1H NMR) and Fourier‐transform infrared (FTIR) spectroscopies. Afterward, PU was prepared by step‐growth polymerization. The effects of solution concentration and solvent type on fibers' diameter were investigated. Scanning electron microscopy (SEM) images revealed that the optimum solution was N, N‐dimethylformamide(DMF): chloroform with a ratio of 60:40. In addition, results showed that bead‐less nanofibers could be achieved by a concentration of 5 w/v% (polymer to solvent). Various optimum practical parameters, such as applied voltage, feeding rate, and needle‐to‐collector distance, were obtained and compared with the results of response surface methodology (RSM). On the other hand, the mechanical evaluations indicated that the porous structure of scaffolds caused them to possess lower mechanical properties, as well as shape fixity ratios than those of bulk samples.
Exome sequencing identifies new somatic alterations and mutation patterns of tongue squamous cell carcinoma in a Chinese population
Authors: Zhang Heyu , Song Yongmei , Du Zhenglin , Li Xuefen , Zhang Jianyun , Chen Shuai , Chen Feng , Li Tiejun , Zhan Qimin
Published: May 2020

Tongue squamous cell carcinoma (TSCC) is an aggressive group of tumors characterized by high rates of regional lymph node metastasis and local recurrence. Emerging evidence has revealed genetic variations of TSCC across different geographical regions due to the impact of multiple risk factors such as chewing betel‐quid. However, we know little of the mutational processes of TSCC in the Chinese population without the history of chewing betel‐quid/tobacco. To explore the mutational spectrum of this disease, we performed whole‐exome sequencing of sample pairs, comprising tumors and normal tissue, from 82 TSCC patients. In addition to identifying seven previously known TSCC‐associated genes (TP53, CDKN2A, PIK3CA, NOTCH1, ASXL1, USH2A, and CSMD3), the analysis revealed six new genes (GNAQ, PRG4, RP1, ZNF16, NBEA, and PTPRC) that had not been reported previously in TSCC. Our in vitro experiments identified ZNF16 for the first time as a solid tumor associated gene to promote malignancy of TSCC cells. We also identified a microRNA (miR‐585‐5p) encoded by the 5q35.1 region and characterized it as a tumor suppressor by targeting SOX9. At least one non‐silent mutation of genes involved in the 10 canonical oncogenic pathways (Notch, RTK‐RAS, PI3K, Wnt, Cell cycle, p53, Myc, Hippo, TGFβ, and Nrf2) was found in 82.9% of cases. Collectively, our data extend the spectrum of TSCC mutations and define novel diagnosis markers and potential clinical targets for TSCC. © 2020 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Trop2 is upregulated in the transition to dysplasia in the metaplastic gastric mucosa
Authors: Riera Katherine M , Jang Bogun , Min Jimin , Roland Joseph T , Yang Qing , Fesmire William T , Camilleri‐Broet Sophie , Ferri Lorenzo , Kim Woo H , Choi Eunyoung , Goldenring James R
Published: May 2020

Intestinal‐type gastric adenocarcinoma arises in a field of pre‐existing metaplasia. While biomarkers of cancer and metaplasia have been identified, the definition of dysplastic transition as a critical point in the evolution of cancer has remained obscure. We have evaluated Trop2 as a putative marker of the transition from metaplasia to dysplasia in the stomach in multiple mouse models of metaplasia induction and progression. In addition, TROP2 expression was evaluated in human samples by immunostaining tissue microarrays for metaplasia, dysplasia, and gastric cancer. Dysplastic mouse organoids were evaluated in vitro following shRNA knockdown of Trop2 expression. In mouse models, no Trop2 was observed in the normal corpus and Trop2 was not induced in acute models of metaplasia induction with either L635 or DMP‐777. In Mist1‐Kras mice, Trop2 expression was not observed in metaplasia at 1 month after Kras induction, but was observed in dysplastic glands at 3–4 months after Kras induction. In human tissues, no Trop2 was observed in normal corpus mucosa or SPEM, but Trop2 expression was observed in incomplete intestinal metaplasia, with significantly less expression in complete intestinal metaplasia. Trop2 expression was observed in all dysplastic and 84% of gastric cancer lesions, although expression levels were variable. Dysplastic mouse organoids from Mist1‐Kras mice expressed Trop2 strongly. Knockdown of Trop2 with shRNA markedly reduced organoid growth and budding behavior, and induced the upregulation of apical villin expression. We conclude that Trop2 is upregulated in the transition to dysplasia in the stomach and promotes dysplastic cell behaviors. © 2020 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Insulating polysiloxane coating forXLPE‐Si‐rubber interfaces with high long‐term stability
Authors: Chen Yidong , Zhou Kai , Ren Xiancheng , Chen Shijia , Li Zerui
Published: May 2020

Cable joints play an important role in the power supply systems, but at the same time, they greatly contribute to the majority of direct failures. Weak parts of the cable lines, especially for the solid‐solid interfaces in joints, attract much attention and are investigated by researchers worldwide. High‐voltage power transmission in electrical grids requires reliable and durable dielectric coatings for the interface insulation. The breakdown caused by local electric field enhancement is a gradual damaging process that leads to structural degradation and an increase of electrical conduction of dielectric materials, and ultimately, it results in catastrophic failure of the cable joints. Here, we demonstrate that the coating of silicone gel instead of silicone grease enables the improvements of tangential AC (alternating current) BDS (breakdown strength) and long‐term stability in the interfaces of joints. Under the pressure of Si‐rubber (silicone rubber) cold‐shrinkable cable accessories, the silicone gel almost did not lose, which improved the insulating stability of the interfaces. Our method allows us to fill the XLPE‐Si‐rubber (cross‐linked polyethylene and silicone rubber interfaces with silicone gel instead of silicone grease), which could reduce the risks of the power outage caused by cable joint faults.