bluuebunny/crossref_metadata_2025_split huggingface dataset:
Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis
Authors: Razmara Ehsan , Azimi Homeyra , Bitaraf Amirreza , Daneshmand Mohammad Ali , Galehdari Mohammad , Dokhanchi Maryam , Esmaeilzadeh‐Gharehdaghi Elika , Garshasbi Masoud 
Published: January 2020

AbstractBackgroundWhole‐exome sequencing (WES) has emerged as a successful diagnostic tool in molecular genetics laboratories worldwide. In this study, we aimed to find the potential genetic cause of skeletal disease, a heterogeneous disease, revealing the obvious short stature phenotype. In an Iranian family, we used solo‐WES in a suspected patient to decipher the potential genetic cause(s).MethodsA comprehensive clinical and genotyping examination was applied to suspect the disease of the patient. The solo clinical WES was exploited, and the derived data were filtered according to the standard pipelines. In order to validate the WES finding, the region harboring the candidate variant in the CTSK gene was amplified from genomic DNA and sequenced directly by Sanger sequencing.ResultsSequence analysis revealed a rare novel nonsense variant, p.(Trp320*); c.905G>A, in the CTSK gene (NM_000396.3). In silico analysis shed light on the contribution of the variant to the pathogenicity of pycnodysostosis. This variant was confirmed by Sanger sequencing and further clinical examinations of the patient confirmed the disease.ConclusionThe present study shows a rare variant of the CTSK gene, which inherited as autosomal recessive, in an Iranian male patient with pycnodysostosis. Taken together, the novel nonsense CTSK variant meets the criteria of being likely pathogenic according to the American College of Medical Genetics and Genomics‐the Association for Molecular Pathology (ACMG‐AMP) variant interpretation guidelines.
Mouse strain‐dependent egg factors regulate calcium signals at fertilization
Authors: McDonough Caitlin E. , Bernhardt Miranda L. , Williams Carmen J. 
Published: January 2020

AbstractCalcium (Ca2+) signals triggered at fertilization initiate resumption of the cell cycle and initial steps of embryonic development. In mammals, the sperm factor phospholipase Cζ triggers the release of Ca2+ from the endoplasmic reticulum (ER), initiating an oscillatory pattern of Ca2+ transients that is modulated by egg factors including Ca2+ influx channels, Ca2+ transporters, and phosphoinositide‐regulating enzymes. Here we compared characteristics of Ca2+ oscillations following in vitro fertilization (IVF) and ER Ca2+ stores among nine common laboratory mouse strains: CF1, C57BL6, SJL, CD1, DBA, FVB, 129X1, BALBc, 129S1, and the F1 hybrid B6129SF1. Sperm from B6SJLF1/J males was used for all IVF experiments. There were significant differences among the strains with respect to duration and maximum amplitude of the first Ca2+ transient, frequency of oscillations, and ER Ca2+ stores. With male strain held constant, the differences in Ca2+ oscillation patterns observed result from variation in egg factors across different mouse strains. Our results support the importance of egg‐intrinsic properties in determining Ca2+ oscillation patterns and have important implications for the interpretation and comparison of studies on Ca2+ dynamics at fertilization.
Ability of the Bristol Impact of Hypermobility questionnaire to discriminate between people with and without Joint Hypermobility Syndrome: a known‐group validity study
Authors: Palmer Shea , Macconnell Samuel , Willmore Alison 
Published: January 2020

AbstractIntroductionA number of psychometric properties of the Bristol Impact of Hypermobility (BIoH) questionnaire have previously been demonstrated, including strong concurrent validity and test–retest reliability. This study aimed to identify whether it can discriminate between those with and without Joint Hypermobility Syndrome (JHS).MethodsThe wording of a small number of BIoH questionnaire items was adapted to create a generic version that asked about ‘general health' rather than ‘hypermobility'. The generic questionnaire was distributed online to university students and staff. A sampling frame was used to create age and sex‐matched samples from the non‐JHS respondents in the current study and a pre‐existing JHS cohort. Questionnaire scores were then compared between samples.Results790 responses were received. 414 were excluded, mainly due to self‐reported generalized joint hypermobility or a JHS diagnosis. The sampling frame was applied to the remaining non‐JHS responders (n = 376) and the pre‐existing JHS cohort (n = 448), resulting in 206 age and sex‐matched participants in each sample. The median (IQR) BIoH scores (out of a maximum 360) were 81 (57.25) and 231.5 (74.25) in the non‐JHS and JHS samples respectively (p < 0.001). There was a very strong correlation between BIoH score and the number of painful areas (r = 0.867, p < 0.001).ConclusionsThe BIoH questionnaire discriminates between those with and without JHS. The median difference (151.5 points) far exceeds the smallest detectable change of 42 points previously identified. The results provide further evidence of the psychometric properties of the BIoH questionnaire and its potential to support research and clinical practice.
Evaluating the safety and potential activity of URO‐902 (hMaxi‐K) gene transfer by intravesical instillation or direct injection into the bladder wall in female participants with idiopathic (non‐neurogenic) overactive bladder syndrome and detrusor overactivity from two double‐blind, imbalanced, placebo‐controlled randomized phase 1 trials
Authors: Rovner Eric , Chai Toby C. , Jacobs Sharon , Christ George , Andersson Karl‐Erik , Efros Mitchell , Nitti Victor , Davies Kelvin , McCullough Andrew R. , Melman Arnold 
Published: January 2020

AbstractAimsTwo phase 1 trials were performed in healthy women with the overactive bladder (OAB) syndrome and urodynamically demonstrated detrusor overactivity (DO), with the aim to demonstrate the safety and potential efficacy of URO‐902, which comprises a gene therapy plasmid vector expressing the human big potassium channel α subunit.MethodsION‐02 (intravesical instillation) and ION‐03 (direct injection) were double‐blind, placebo‐controlled, multicenter studies without overlap in enrollment between studies. Active doses were administered and evaluated sequentially (lowest dose first) for safety. ION‐02 participants received either 5000 µg or 10 000 µg URO‐902, or placebo. ION‐03 participants received either 16 000 or 24 000 µg URO‐902, or placebo, injected directly into the bladder wall using cystoscopy. Primary outcome variables were safety parameters occurring subsequent to URO‐902 administration; secondary efficacy variables also were evaluated.ResultsAmong the safety outcomes, there were no dose‐limiting toxicities or significant adverse events (AEs) preventing dose escalation during either trial, and no participants withdrew due to AEs. For efficacy, in ION‐02 (N = 21), involuntary detrusor contractions on urodynamics at 24 weeks in patients receiving URO‐902 (P < .0508 vs placebo) and mean urgency incontinence episodes in the 5000 µg group (P = .0812 vs placebo) each showed a downward trend. In ION‐03 (N = 13), significant reduction versus placebo in urgency episodes (16 000 µg, P = .036; 24 000 µg, P = .046) and number of voids (16 000 µg, −2.16, P = .044; 24 000 µg, −2.73, P = .047) were observed 1 week after injection.ConclusionPromising safety and efficacy results in these preliminary phase 1 studies suggest gene transfer may be a promising therapy for OAB/DO, warranting further investigation.
Do overactive bladder symptoms and their treatment‐associated changes exhibit a normal distribution? Implications for analysis and reporting
Authors: Amiri Marjan , Murgas Sandra , Stang Andreas , Michel Martin C. 
Published: January 2020

AbstractAimsTo explore the use of means vs medians (assuming or not the presence of normal distribution) in studies reporting overactive bladder syndrome symptoms and to test for normal distribution of basal values and treatment‐associated changes thereof in two large noninterventional studies.MethodsSystematic review of all original studies reporting on at least one overactive bladder syndrome symptom published in four leading urology journals in 2016 to 2017. Testing of the normal distribution of urgency, incontinence, frequency, and nocturia in two large noninterventional studies (n = 1335 and 745).ResultsAmong 48 eligible articles, 86% reported means (assuming a normal distribution), 6% medians (not making this assumption), and 8% a combination thereof. Baseline values for all four symptoms and treatment‐associated alterations thereof deviated from a normal distribution (P < .0001 in all cases). Means overestimated basal value and absolute changes thereof as compared with medians, for example, basal number of incontinence episodes in study 1 5.1 vs 4. Differences between means and medians for percentage changes of symptoms were small and did not consistently favor means over medians.ConclusionsDominant reporting of means implies the assumption of a normal distribution of overactive bladder syndrome symptoms but our data from two noninterventional studies do not support this assumption. We recommend that basal values and absolute symptom changes should be reported as medians and subjected to nonparametric analysis; means may be appropriate for the reporting of percentage changes of symptoms.
Schedule design for liner services under vessel speed reduction incentive programs
Authors: Zhuge Dan , Wang Shuaian , Zhen Lu , Laporte Gilbert 
Published: January 2020

AbstractGas and particulate emissions from ship transportation have been increasing in recent years. In order to mitigate ship emissions near coastal areas, voluntary vessel speed reduction incentive programs (VSRIPs) were put in place by a number of ports. This paper studies a schedule design problem faced by liner shipping companies under VSRIPs. It proposes a mixed‐integer nonlinear mathematical model for the minimization of the total cost, consisting of fuel cost, as well as operating cost, minus dockage refunds. The model balances three determinants, that is, the compliance of VSRIPs, the speed limit (the maximum physical speed of ships and the upper speed limit imposed by VSRIPs), and the limited number of ships. An enumerative algorithm and a piecewise‐linear approximation algorithm are developed, based on some properties of the nonlinear model. The efficiency of the proposed algorithms is validated through extensive computational experiments.
Physical Activity and Adiposity in a Racially Diverse Cohort of US Infants
Authors: Benjamin‐Neelon Sara E. , Bai Jiawei , Østbye Truls , Neelon Brian , Pate Russell R. , Crainiceanu Ciprian 
Published: January 2020

ObjectiveEarly life physical activity may help prevent obesity, but objective quantification in infants is challenging.MethodsA total of 506 infants were examined from 2013 to 2016. Infants wore accelerometers for 4 days at ages 3, 6, 9, and 12 months. Daily log‐transformed physical activity counts were computed, averaged, and standardized across assessments. A linear mixed model was used to examine trends in standardized physical activity counts as well as associations between physical activity and BMI z score, sum of subscapular and triceps skinfold thickness for overall adiposity (SS+TR), and their ratio for central adiposity (SS:TR).ResultsAmong infants, 66% were black and 50% were female. For each additional visit, standardized physical activity counts increased by 0.23 (CI: 0.18 to 0.27; P < 0.0001). This translates to 126.3 unadjusted physical activity counts or a 4% increase for each visit beyond 3 months. In addition, a 1‐SD increase in standardized physical activity counts (550 unadjusted physical activity counts) was associated with a 0.01‐mm lower SS:TR (95% CI: −0.02 to −0.001; P = 0.03). However, standardized physical activity counts were not associated with BMI z score or SS+TR.ConclusionsPhysical activity increased over infancy and was associated with central adiposity. Despite limitations, researchers should consider objective measurement in infants.
Electrical insulation performance of cross‐linked polyethylene/MgO nanocomposite material for ±320 kV high‐voltage direct‐current cables
Authors: Paramane Ashish , Chen Xiangrong , Dai Chao , Guan Honglu , Yu Linwei , Tanaka Yasuhiro 
Published: January 2020

AbstractPolymeric nanocomposite insulations are receiving the widespread attention of the electrical cable industry. This paper presents the electrical insulation performance of as‐received commercial 320 kV high‐voltage direct‐current (HVDC) cross‐linked polyethylene (XLPE)/MgO nanocomposite material with reference to the pure XLPE. The results of this commercial‐grade electrical insulation material are not reported hitherto. The scanning electron microscopy confirms the well‐dispersed nanofiller inside the polymer matrix. The DC electrical insulation performance is investigated by DC breakdown strength, space charge, DC electrical conductivity, and surface potential decay measurements. The test samples are subjected to the thermal aging at 135°C for 30 days. The un‐aged nanocomposite exhibits 20% higher DC breakdown strength, negligible hetero space charge accumulation, and the lower DC conductivity by one order than the un‐aged pure XLPE. Moreover, thermally aged nanocomposite shows more restraint to the deterioration of its properties. After the thermal aging, the DC breakdown strength decreased by 38% and 20% in the pure XLPE and its nanocomposite, respectively. Thermally aged nanocomposite shows negligible hetero charges and an increase in the DC conductivity by one order. However, the pure XLPE shows higher hetero charge accumulation and the increased DC conductivity by one order. In un‐aged XLPE nanocomposite higher crystallinity, higher deep trap density, and the lower carbonyl index are found to be the primary attributes of its improved performance. It is postulated that these significantly unchanged attributes can be the reason for the better anti‐thermal aging properties of the XLPE nanocomposite.
Monitoring and mitigation of toxic heavy metals and arsenic accumulation in food crops: A case study of an urban community garden
Authors: Cooper Andrew M. , Felix Didra , Alcantara Fatima , Zaslavsky Ilya , Work Amy , Watson Paul L. , Pezzoli Keith , Yu Qi , Zhu Dan , Scavo Alexander J. , Zarabi Yasman , Schroeder Julian I. 
Published: January 2020

AbstractUrban community gardens have increased in prevalence as a means to generate fresh fruits and vegetables, including in areas lacking access to healthy food options. However, urban soils may have high levels of toxic heavy metals, including lead and cadmium and the metalloid arsenic, which can lead to severe health risks. In this study, fruit and vegetable samples grown at an urban community garden in southeastern San Diego, the Ocean View Growing Grounds, were sampled repeatedly over a four‐year time period in order to measure potential contamination of toxic heavy metals and metalloids and to develop solutions for this problem. Metal nutrient, heavy metal, and metalloid concentrations were monitored in the leaf and fruit tissues of fruit trees over the sampling period. Several of the fruit trees showed uptake of lead in the leaf samples, with Black Mission fig measuring 0.843–1.531 mg/kg dry weight and Mexican Lime measuring 1.103–1.522 mg/kg dry weight over the sampling period. Vegetables that were grown directly in the ground at this community garden and surrounding areas showed arsenic, 0.80 + 0.073 mg/kg dry weight for Swiss chard, and lead, 0.84 ± 0.404 mg/kg dry weight for strawberries, in their edible tissues. The subsequent introduction of raised beds with uncontaminated soil is described, which eliminated any detectable heavy metal or metalloid contamination in these crops during the monitoring period. Recommendations for facilitating the monitoring of edible tissues and for reducing risk are discussed, including introduction of raised beds and collaborations with local universities and research groups.
Life Satisfaction in Persons With Late Effects of Polio: A Test‐Retest Reliability Study
Authors: Ekstrand Elisabeth , Lexell Jan , Brogårdh Christina 
Published: January 2020

BackgroundThe Life Satisfaction Questionnaire (LiSat‐11), including one global item and 10 domain‐specific items, is used to evaluate life satisfaction in persons with the late effects of polio (LEoPs). However, there is a lack of knowledge about its psychometric properties.ObjectiveTo evaluate the test‐retest reliability of the LiSat‐11 and the associations between the global and domain‐specific items in persons with LEoPs.DesignA test‐retest design, where data were collected by a postal survey.SettingUniversity Hospital, Outpatient Clinic.ParticipantsA cross‐sectional sample of persons (20 women and 31 men; mean age 72 years) with LEoPs.Main Outcome MeasurementsLiSat‐11, assessing how satisfied a person is with different aspects of life, such as life as a whole, vocation, economy, leisure, contacts with friends and acquaintances, sexual life, activities of daily living (ADLs), family life, partner relationship, somatic health, and psychological health.MethodsLiSat‐11 was administered on two occasions, 2 weeks apart. The test‐retest reliability was evaluated by Kappa statistics, the percent agreement (PA), and the Svensson rank‐invariant method. The association between the items was evaluated with the Spearman rank correlation coefficient (rho).ResultsThe Kappa coefficients showed good to excellent agreement (0.64‐0.90) and the PA ≤1 point was high (>92%) for all items. No items showed any systematic or random disagreements according to the Svensson method. All domain‐specific items correlated significantly with the global item “Life as a whole” (P < .01; rhos 0.41 to 0.75).ConclusionsLiSat‐11 is reliable for assessing life satisfaction in persons with LEoPs. The global item “Life as a whole” is useful as an overall measure but cannot fully replace the information obtained from the domain‐specific items of LiSat‐11.
Density functional theory study on the degradation of fuel cell anion exchange membranes via removal of vinylbenzyl quaternary ammonium head group
Authors: Espiritu Richard , Tan John Lester , Lim Len Herald , Arco Susan 
Published: January 2020

AbstractThe alkaline stability of different tethered amine functional groups of fuel cell anion exchange membranes (AEMs), namely, trimethyl amine (TMA), 1‐azabicyclo[2.2.2]octane (ABCO), 1,4‐diazabicyclo[2.2.2]octane (DABCO), and N‐methylpiperidine (NMP), is investigated using density functional theory (DFT). Among the amine functional groups investigated, ABCO emerged as the most stable exhibiting the highest energy of barrier (EOB) of 33.5 kcal/mol, while DABCO has the lowest EOB of 30.0 kcal/mol due to the presence of an additional electron‐withdrawing nitrogen. The calculated lowest unoccupied molecular orbital (LUMO) energy revealed the trend of increasing alkaline stability against nucleophilic attack, consistent with their measured barrier energies: DABCO < TMA < NMP < ABCO. Most importantly, the DFT calculations confirmed the proposed multistep AEM degradation mechanism via the detachment of the whole vinylbenzyl quaternary ammonium group through the following steps: (1) nucleophilic attack leading to the loss of aromaticity with subsequent transformation to a quinodimethane moiety, (2) detachment of the quinodimethane‐like intermediate from the polymer backbone by the attack of superoxide and/or peroxy radicals via oxidative cleavage, and (3) the rearomatisation of the reaction intermediate.
Rapid Hyperbranched Polythioether Synthesis Through Thiol‐Michael Addition Reaction
Authors: Daglar Ozgun , Gungor Begum , Guric Gulce , Gunay Ufuk Saim , Hizal Gurkan , Tunca Umit , Durmaz Hakan 
Published: January 2020

ABSTRACTIn this study, two types of hyperbranched (HB) polythioether could readily be achieved in a short time at ambient temperature through a thiol‐Michael addition reaction. Dimethyl acetylenedicarboxylate (DMADC) or methyl propiolate (A2) and trimethylolpropane tris(3‐mercaptopropionate) (B3) monomers were reacted using an organobase 1,5,7‐triazabicyclo[4.4.0]dec‐5‐ene (TBD) as a catalyst in chloroform at room temperature to provide subsequent HB polythioethers. The effect of TBD concentration on the polymerization was studied for the DMDAC case monitoring the molecular weight evolution against time. HB polythioethers were characterized using spectroscopic (nuclear magnetic resonance) and chromatographic (gel permeation chromatography with refractive index and light‐scattering detectors) techniques. © 2020 Wiley Periodicals, Inc. J. Polym. Sci. 2020, 58, 824–830
Increasing crop diversity in wheat rotations increases yields but decreases soil health
Authors: Agomoh Ikechukwu V. , Drury Craig F. , Phillips Lori A. , Reynolds W. Daniel , Yang Xueming 
Published: January 2020

AbstractDemand for food is rising and the ability of any particular soil to support sustainable food production is dependent upon a variety of soil biochemical, chemical and physical soil parameters. However, the challenge is that the impacts of a new management practice on soil properties may take years to assess. In this field study, we investigated the effects of long‐term cropping rotation treatments (established in 2001) on soil health indicators from soils under monoculture, 2‐yr and 3‐yr crop rotations with and without a cover crop. In particular, we compared soil heath indicators under eight cropping sequences including continuous winter wheat (Triticum aestivum L.) (WW), soybean (Glycine max L.)–winter wheat (S–WW), corn (Zea mays L.)–soybean–winter wheat (C–S–WW), and winter wheat–soybean–soybean (WW–S–S) all with and without red clover (Trifolium pretense L.) (RC) in the wheat phase of the rotation. We measured ten soil health indicators collected from the wheat phase of the rotation. Crop rotation had greater effects on soil health indicators than cover crop. After 17 years, crop yields were 23–28% greater for the 2‐yr and 3‐yr rotations than monoculture WW in the presence of red clover. In the absence of red clover, yields were 32–39% greater for the 2‐yr and 3‐yr rotations than monoculture WW. However, the soil health indicators were significantly greater for monoculture WW than the 2‐yr and 3‐yr rotations. These results suggest WW enhanced soil health while crop rotations with soybean negatively impacted most biochemical soil health parameters.
Low‐Molecular‐Weight Gelators as Dual‐Responsive Chemosensors for the Naked‐Eye Detection of Mercury(II) and Copper(II) Ions and Molecular Logic Gates
Authors: Mandegani Fatemeh , Zali‐Boeini Hassan , Khayat Zohreh , Braun Jason D. , Herbert David E. 
Published: January 2020

AbstractThree quinoline‐based Low Molecular Weight Gelators (LMWG's), containing benzimidazole and long alkyl chain moieties, with excellent gelation abilities have been designed and synthesized. The gel properties were studied by IR and NMR spectroscopies, scanning electron microscopy (SEM) and rheological measurements. The gelators showed excellent ability as efficient colorimetric and fluorescent sensors for detection of Hg2+ and Cu2+ ions in aqueous media. The supramolecular gel was selectively transformed into solution in the presence of Hg2+ ion alongside complete quenching of its fluorescence intensity. In the presence of Cu2+ ion, the gelator exhibited a significant color change from white to dark pink and its fluorescence intensity was substantially reduced in gel‐gel state. Other competing ions such as Mn2+, Zn2+, Pb2+, Cd2+, Mg2+, Ni2+and Al3+, induced no change under the same conditions. The gel function as molecular logic gate was also investigated and found that, the gelators implement the functions of INH and NOT gates with water and Hg2+ ion as inputs and gel formation and fluorescence intensity as outputs.