bluuebunny/crossref_metadata_2025_split huggingface dataset:
ALU transposition induces familial hypertrophic cardiomyopathy
Authors: Nfonsam Landry , Huang Lijia , Carson Nancy , McGowan‐Jordan Jean , Beaulieu Bergeron Melanie , Goobie Sharan , Conacher Susan , McCarty David , Benson Lee , Hewson Stacy , Zahavich Laura , Sinclair‐Bourque Elizabeth , Smith Amanda , Potter Ryan , Ghani Mahdi , Bronicki Lucas , Jarinova Olga 
Published: October 2019

AbstractBackgroundHypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy (LVH) in the absence of predisposing cardiovascular conditions. Pathogenic variants in at least 16 cardiac sarcomeric genes have been implicated in HCM, most of which act in a dominant‐negative fashion. However loss‐of‐function (haploinsufficiency) is the most common disease mechanism for pathogenic variants in MYBPC3, suggesting that MYBPC3 complete deletion may play a role in HCM pathogenesis. Here, we investigate MYBPC3 complete deletion as a disease mechanism in HCM by analyzing two unrelated patients with confirmed diagnosis of HCM that tested negative by Sanger sequencing analysis.MethodsMYBPC3 complete deletion was investigated by Multiplex ligation‐dependent probe amplification (MLPA) and microarray analyses. The mechanism of deletion was investigated by interrogating the SINEBase database.ResultsPatient‐1 was diagnosed with nonobstructive HCM in his mid‐40s while undergoing assessment for palpitations, and patient‐2 with obstructive HCM in his late‐20s while undergoing systolic heart murmur assessment for an unrelated illness. MLPA testing revealed a heterozygous deletion of all MYBPC3 exons in both patients. Subsequent microarray testing confirmed these deletions which extended beyond the 5′ and 3′ ends of MYBPC3. Genomic assessment suggested that these deletions resulted from Alu/Alu‐homologous recombination.ConclusionOur results demonstrate that haploinsufficiency resulting from MYBPC3 complete deletion, potentially mediated by Alu recombination, is an important disease mechanism in cardiomyopathy and emphasizes the importance of copy number variation analysis in patients clinically suspected of HCM.
A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X‐linked intellectual disability type Nascimento
Authors: Ma Dingyuan , Tan Jianxin , Zhou Jing , Zhang Jingjing , Cheng Jian , Luo Chunyu , Liu Gang , Wang Yuguo , Xu Zhengfeng 
Published: October 2019

AbstractBackgroundX‐linked intellectual disability type Nascimento (XIDTN), caused by mutations in ubiquitin‐conjugating enzyme E2A (UBE2A) gene, is characterized by moderate to severe intellectual disability, impaired speech, urogenital anomalies, skin abnormalities, and dysmorphic facial features.MethodsWhole‐exome sequence was carried out in the patients, and the variant of disease‐associated gene in the patient and his parents was confirmed by Sanger sequencing. RNA transcript analysis by reverse transcription (RT)‐PCR was performed to assess the potential effects of the splice site mutation.ResultsA novel splicing mutation (c.331‐2A>G) in UBE2A gene, inherited from his mother, was identified in a Chinese boy with intellectual disability and impaired speech. Furthermore, brain magnetic resonance imaging showed multiple patchy hyperintensity in bilateral centrum ovale. RT‐PCR demonstrated that this variant generated a novel transcript with a deletion of 29 nucleotides in exon 6 (r.331_359del), resulting in a frameshift mutation (p.L112SfsX17).ConclusionUltimately, he was diagnosed with XIDTN by genetic analysis. To the best of our knowledge, this is the first case report of this syndrome in China with a confirmed molecular diagnosis. Our case not only expands the mutation spectrum of UBE2A, but also provides additional insights into the genetic and phenotypic heterogeneity of XIDTN as well as phenotype–genotype correlations in this disease.
Genetics of diabetic kidney disease: A follow‐up study in the Arab population of the United Arab Emirates
Authors: Osman Wael M. , Jelinek Herbert F. , Tay Guan K. , Hassan Mohamed H. , Almahmeed Wael , Khandoker Ahsan H. , Khalaf Kinda , Alsafar Habiba S. 
Published: October 2019

AbstractBackgroundTwo genome‐wide association studies in European and Japanese populations reported on new loci for diabetic kidney disease (DKD), including FTO. In this study, we have replicated these investigations on a cohort of 410 Type 2 diabetes mellitus (T2DM) patients of Arab origin from the United Arab Emirates (UAE).Methods and ResultsThe cohort included 145 diabetic patients diagnosed with DKD and 265 diabetics free of the disease. In general, we were able to confirm the association between the FTO locus and DKD, as reported in the Japanese population. Specifically, there were significant associations with two single nucleotide polymorphisms (SNPs), namely rs1421086 (p = .013, OR = 1.52 depending on allele G, 95% CI: 1.09–2.11) and rs17817449 (p = .0088, OR = 1.55 depending on allele C, 95% CI: 1.12–2.14) of the FTO locus. Both SNPs were in linkage disequilibrium with rs56094641, also as reported in the Japanese population. While the alleles of both SNPs, which increase the risk of DKD, were associated with higher Body Mass Index (BMI), their associations with DKD were independent of the BMI effects.ConclusionsThis study confirms that FTO is a multiethnic locus for DKD which is independent from any influence of BMI and/or obesity.
A simple design of SIW horn fed multibeam transmitarray antenna using transmission matrix approach
Authors: Xi Baokun , Cai Yang , Xue Qianzhong , Wang Yong , Yang Shaopeng , Zhang Rui 
Published: October 2019

AbstractThis article develops an efficient solution to design beam‐scanning transmitarray (TA). The four‐layer unit associated with the focal planar substrate integrated waveguide (SIW) array is presented and characterized. The proposed linearly polarized TA is implemented as four‐layer sheet admittance composed of the subwavelength unit, whose transmission feature would be accurate analyzed by the equivalent circuit model. The phase layout of TA is optimized by using the PMM method in order to achieve a wide scanning behavior and reduce the scan loss. Arc‐shaped SIW horn antenna array is adopted as the feeding source. Artificial impedance surfaces printed on either side against the low‐profile substrate results in a greatly enhanced radiation performance. The TA and feeds presented at 20 GHz are both fabricated using standard PCB processing. The measured results show a greatly improved ±45° scan range with the gain loss of 0.73 dBi by switching the SIW horn antenna. Good radiation and bandwidth characters are performed in all states of operation for both ports, confirmed the effectiveness of proposed design process.
Design of reconfigurable in‐phase/out‐of‐phase power divider with finite‐ground microstrip line‐based switchable phase inverters
Authors: Wu Han , Sun Sheng 
Published: October 2019

AbstractIn this letter, a switchable phase inverter is presented for the design of the reconfigurable in‐phase/out‐of‐phase power divider. Firstly, the in‐phase and out‐of‐phase power dividers are designed based on the finite‐ground microstrip line (FGMSL). Next, two FGMSL‐based switchable phase inverters are designed and installed at two sides of output ports, respectively. After compensating the parasitic effects of the switches and DC blocking capacitors, a wideband reconfigurable in‐phase/out‐of‐phase power divider is constructed. To validate this proposal, a prototype with power‐dividing ratio of 2:1 is finally designed, implemented, and fabricated. The measured and simulated results show a good agreement under both in‐phase and out‐of‐phase states. A measured bandwidth of 64% with better than 15 dB return loss and 20 dB isolation is obtained. Phase unbalances are less than 2.4° for in‐phase state and 4° for out‐of‐phase state, respectively, over a wide concerned frequency range.
Mutual coupling reduction between patch antennas based on microstrip structures
Authors: Hao Chuanhui , Zhou Ruicheng , Zheng Hongmei , Sun Xiaofan , Sun Xu‐bao 
Published: October 2019

AbstractA practical design of reduction mutual coupling is presented between patch antenna elements by using symmetrical microstrip structures in the paper. The patch antenna design consists of the following: two antenna patches, a rectangular substrate plane, a pair of three orders symmetrical microstrips, and a common ground. By using the proposed scheme, approximately 35 dB mutual coupling reduction is achieved at central frequency of 7.3 GHz while maintaining gain of 2.3 dB and directivity of 5.53dBi. Return loss slightly decreases by 2.91 dB from −23.12 to −20.21 dB. In contrast, it exerts no effects on gain radiation characteristics in a no microstrip setup. Simulation results of this technique are verified validated using experimental measurements.
Design of multiple collar stay antennas for wireless wearable compact devices
Authors: Gautam Baishali , Verma Pooja , Singha Anindita , Islam Hashinur , Prakash Om , Das Saumya 
Published: October 2019

AbstractDesign of wearable antennas for various uses demands satisfactory and reliable antenna performance for a long period time. Generally, microstrip patch antennas with textile material as a substrate are used for many wearable applications. But the characteristics of the textile materials like absorption of water, porousness of fabric material, thickness of fabric along with the movement of the human body leads to shifting of operating frequency, bandwidth, return loss, and the polarization of antenna. To resolve these issues, light weight, low profile, compact, rigid antennas have been developed in this research work. Collar stay of formal shirts has been considered to develop two conformal wearable microstrip antennas for ISM band and Wi‐Fi applications separately. The proposed conformal antennas yield a 10 dB impedance bandwidth of 30 and 76 MHz with center frequency 2.1 and 5.2 GHz, respectively. The maximum gain achieved with the proposed structures is 3.56 and 4.88 dBi for 2.1 and 5.2 GHz, respectively. Measurement of specific absorption rate (SAR) on an artificial human head model has also been conducted for 2.1 GHz antenna on software platform to justify the acceptance of proposed antenna for wearable applications. It is found that the electromagnetic energy absorbed by the head model is restricted to a maximum SAR value 0.127 and 0.066 W/kg over 1 and 10 g average tissue mass respectively at 2.1 GHz. The antenna radiation pattern under wearable condition has also been presented.
Pin‐loaded triple‐mode patch resonator for bandpass filter design
Authors: Qiu Lei‐Lei , Zhu Lei 
Published: October 2019

AbstractIn this letter, a pin‐loaded triple‐mode square patch resonator is proposed for bandpass filter (BPF) design. By loading short‐circuited pins underneath the patch, the patch resonator not only enables DC‐blocking, but also brings out one additional resonant mode, thus a triple‐mode patch resonator can be formed up under operation with a pair of degenerate modes. According to the field distributions, these three resonant modes can be tuned by virtue of loaded slots and pins, while these two degenerate modes can be properly split by offset‐positioning the two sets of pins. In final, a pin‐loaded triple‐mode patch BPF is designed, fabricated and measured to validate the predicted results.
A method for ordinal outcomes: The ordered stereotype model
Authors: Fernandez Daniel , Liu Ivy , Costilla Roy 
Published: October 2019

AbstractObjective: The collection and use of ordinal variables are common in many psychological and psychiatric studies. Although the models for continuous variables have similarities to those for ordinal variables, there are advantages when a model developed for modeling ordinal data is used such as avoiding “floor” and “ceiling” effects and avoiding to assign scores, as it happens in continuous models, which can produce results sensitive to the score assigned. This paper introduces and focuses on the application of the ordered stereotype model, which was developed for modeling ordinal outcomes and is not so popular as other models such as linear regression and proportional odds models. This paper aims to compare the performance of the ordered stereotype model with other more commonly used models among researchers and practitioners.Methods: This article compares the performance of the stereotype model against the proportional odd and linear regression models, with three, four, and five levels of ordinal categories and sample sizes 100, 500, and 1000. This paper also discusses the problem of treating ordinal responses as continuous using a simulation study. The trend odds model is also presented in the application.Results: Three types of models were fitted in one real‐life example, including ordered stereotype, proportional odds, and trend odds models. They reached similar conclusions in terms of the significance of covariates. The simulation study evaluated the performance of the ordered stereotype model under four cases. The performance varies depending on the scenarios.Conclusions: The method presented can be applied to several areas of psychiatry dealing with ordinal outcomes. One of the main advantages of this model is that it breaks with the assumption of levels of the ordinal response are equally spaced, which might be not true.
Trendbericht Makromolekulare Chemie
Authors: Gallei Markus , Schmidt Bernhard , Barz Matthias 
Published: October 2019

AbstractBiopolymere und biomedizinische Anwendung von Polymeren: Selbstorganisation DNA‐basierter Architekturen, mit denen sich komplexe Nanostrukturen herstellen lassen. Polymeranalytik: Superauflösungsfluoreszenzmikroskopie verrät die Vernetzungsstruktur von Mikrogelen und korreliert die Struktur mit den Eigenschaften. Polymerhybride und Kompositmaterialien: lokal kontrollierte Polymeranlagerung an Silicapartikeln. Synthesestrategien: lebende One‐Pot‐ Reaktionen, die chemische Funktionalitäten einbinden oder definierte Blockcopolymere liefern. Außerdem: mizellare photonische Kristalle.
Scientific Breakfast ‐‐ der Gaschromatograph auf dem Frühstücksbrettchen
Authors: Happel Oliver 
Published: October 2019

AbstractEin selbstgebauter Gaschromatograph kann im Chemieunterricht eine Alternative zur gängigen Dünnschichtchromatographie sein. Das Gerät passt auf ein Frühstücksbrettchen und bringt überraschend empfindliche Nachweise, zum Beispiel auf Brenngase oder Ethanol in Getränken.
Ordnung in der Ordnung
Authors: Clemens Oliver , Kunkel Nathalie 
Published: October 2019

AbstractMagnetische Werkstoffe sind fundamental für technische Anwendungen wie Datenspeicher und Windenergie. Magnetische Eigenschaften entstehen durch die relative Ausordnung von magnetischen Momenten auf paramagnetischen Atomen oder Ionen im Festkörper. Um diese Ausordnungen der Spins im Gitter zu verstehen, sind klassische Symmetrieelemente zu erweitern.
Amerikanisches Peptidsymposium mit starker deutscher Beteiligung
Authors: Beck‐Sickinger Annette 
Published: October 2019

AbstractMehr als 600 Wissenschaftler und Wissenschaftlerinnen aus aller Welt trafen sich Ende Juni beim Amerikanischen Peptidsymposium (APS) in Monterey in Kalifornien, um sich bei der sechstägigen Konferenz über Synthese, Testung und Anwendungen von Peptiden auszutauschen.
Zartschmelzend oder krümelig
Authors: Hupach Sascha 
Published: October 2019

AbstractFür Lebensmittelhersteller ist die Partikelgrößenverteilung ein wichtiges Qualitätskriterium, denn sie bestimmt das Mundgefühl bei Schokolade oder verhindert, dass Milch aufrahmt. Statische Laserbeugung ist dafür das Werkzeug im Labor.
The forwarder planning problem in a two‐echelon network
Authors: Di Francesco Massimo , Gaudioso Manlio , Gorgone Enrico , Zuddas Paola 
Published: October 2019

AbstractThis paper is motivated by the case of a forwarder dealing with inland transportation planning, from a seaport, of inbound containers filled with pallets having different destinations in the land‐side. Although the forwarder is not the owner nor controls any vehicle, he is required to plan both the assignment of containers to intermediate depots, where the pallets are unpacked, and the assignment of pallets to the vehicles used for the distribution from depots to consignees. We present a mathematical model supporting the forwarder in this two‐echelon network to minimize assignment costs, while accounting for a balanced workload among all carriers involved in this distribution scheme. We discuss a tailor‐made implementation of the model in a realistic context and present a heuristic method to solve realistic‐sized instances. Our computational experiments confirm the viability of this method.
Development and validation of a complex intervention: A physical exercise programme aimed at delaying the functional decline in frail older adults
Authors: Santos‐Rocha Rita , Freitas Joana , Ramalho Fátima , Pimenta Nuno , Costa Couto Filipa , Apóstolo João 
Published: October 2019

AbstractAimTo develop and validate a physical exercise programme aimed at delaying the functional decline in frail older adults.DesignThe revised guideline of Criteria for Reporting the Development and Evaluation of Complex Interventions in health care was followed.MethodsThe physical exercise programme was designed and validated by exercise specialists to be implemented by healthcare professionals. The physical exercise programme underwent three stages of development, piloting and evaluation. It includes a portfolio of exercises in different support materials (posters, e‐book and website). A testing intervention was delivered to the target population.ResultsThe Criteria for Reporting the Development and Evaluation of Complex Interventions in health care process has the potential to help practitioners in developing and planning complex interventions, such as an exercise programme. Its components can be adjusted to the context and to the characteristics of the target population. A study protocol and a pilot study will be developed to test the effectiveness of the physical exercise programme on delaying the functional decline of frail older adults.
Impact of Acipimox Therapy on Free Fatty Acid Efflux and Endothelial Function in the Metabolic Syndrome: A Randomized Trial
Authors: Aday Aaron W. , Goldfine Allison B. , Gregory Justin M. , Beckman Joshua A. 
Published: October 2019

ObjectiveInsulin resistance is associated with increased lipolysis and elevated concentrations of free fatty acids (FFA), which in turn contribute to impaired vascular function. It was hypothesized that lowering FFA with acipimox, a nicotinic acid derivative that impairs FFA efflux, would improve endothelial function, measured by flow‐mediated dilation (FMD), in individuals with metabolic syndrome.MethodsA total of 18 participants with metabolic syndrome and 17 healthy controls were enrolled and treated with acipimox 250 mg orally every 6 hours or placebo for 7 days in a randomized, double‐blind, crossover trial.ResultsAcipimox reduced FFA concentrations among individuals with metabolic syndrome to near normal levels (P = 0.01), but there was no change among healthy controls (P = 0.17). Acipimox did not improve endothelial‐dependent FMD in either group (metabolic syndrome: P = 0.42; healthy controls: P = 0.16), although endothelial‐independent nitroglycerin‐mediated dilation among those with metabolic syndrome tended to increase (20.3%, P = 0.06). There were no changes in blood lipids or markers of inflammation following therapy. There was minimal correlation between change in FMD and baseline measures of BMI ( ρ = −0.09) or waist circumference ( ρ = −0.15).ConclusionsIn groups with normal or elevated baseline FFA, short‐term reductions do not improve endothelial function assessed by FMD.
In situ fabrication of wood flour/nano silica hybrid and its application in polypropylene‐based wood‐plastic composites
Authors: Ma Yuanbin , He Hui , Huang Bai , Jing Huaishuai , Zhao Zijin 
Published: October 2019

AbstractWood‐plastic composites are attracting great interest from society due to their recycling nature and excellent processability. Also, nano silica can be used as reinforcing filler for wood‐plastic composites. However, it is difficult to achieve a fine nano silica dispersion within the wood‐plastic composites. In this article, the alkali treatment and sol‐gel method were combined to modify the wood flour(WF) in situ to prepare WF/silica hybrid, and the hybrid was used as reinforcing filler for polypropylene‐based wood‐plastic composites. The physicochemical properties of WF/silica hybrid were characterized by infrared spectroscopy, scanning electron microscopy and thermogravimetric analysis. Subsequently, the mechanical properties, Vicat softening temperature, oxidation induction time and thermal decomposition behavior of polypropylene‐based wood‐plastic composites were characterized. The test results were compared with polypropylene‐based wood‐plastic composites blended with nano silica. Compared with the wood‐plastic composites blended with commercial silica, the composites filled with hybrid filler have better mechanical performances and thermal stability. The addition of hybrid is also beneficial to improving the thermal oxygen resistance of the composites. We envision that the present work offers novel insights to prepare high‐performance wood‐plastic composites.
Estimation of high‐dimensional propensity scores with multiple exposure levels
Authors: Eberg Maria , Platt Robert W. , Reynier Pauline , Filion Kristian B. 
Published: October 2019

AbstractPurposeLittle information is available on the performance of high‐dimensional propensity scores (HDPS) in settings with more than two exposure levels. Our objective was to adapt the HDPS algorithm to allow for the inclusion of multilevel treatments and compare estimates obtained via this approach with those obtained via pairwise comparisons in a case study using real‐world data.MethodsWe conducted a retrospective cohort study of cardiovascular events associated with three smoking cessation drugs (varenicline, bupropion, nicotine replacement therapy [NRT]) using the Clinical Practice Research Datalink. We applied the binary HDPS algorithm adjusted for pre‐specified and empirically‐selected covariates to cohorts formed by each treatment pair. We then constructed multinomial HDPS models on a cohort of new users of any of the three drugs, adjusting for predefined covariates and different combinations of empirically‐selected covariates. After trimming the area of non‐overlap of the HDPS distributions, the effects of the study drugs on cardiovascular events were estimated with the Cox proportional hazards models adjusted for propensity score category.ResultsOutcome models adjusted for multinomial HDPS estimated treatment effects that were slightly more protective than those estimated in pairwise comparisons (varenicline vs NRT: HRMultinomial = 0.60‐0.62, HRPairwise = 0.64; bupropion vs NRT: HRMultinomial = 0.70‐0.72, HRPairwise = 0.76). Trimming rates were similar between the two approaches.ConclusionsThe extension of HDPS to multilevel exposures is a valid and practical approach to confounder control that may be useful when comparing different classes of drugs prescribed for the same indication or different molecules within a given drug class.