bluuebunny/crossref_metadata_2025_split huggingface dataset:
Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease
Authors: Raggio Víctor , Dell’Oca Nicolas , Simoes Camila , Tapié Alejandra , Medici Conrado , Costa Gonzalo , Rodriguez Soledad , Greif Gonzalo , Garrone Estefania , Rovella María Laura , Gonzalez Virgina , Halty Margarita , González Gabriel , Shin Jong-Yeon , Shin Sang-Yoon , Kim Changhoon , Seo Jeong-Sun , Graña Martin , Naya Hugo , Spangenberg Lucia 
Published: May 2021

Abstract
Background
Rare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms. Rare diseases have in general a high impact on the quality of life and life expectancy of patients, which are in general children or young people. The advent of high-throughput sequencing techniques has improved diagnosis in several different areas, from pediatrics, achieving a diagnostic rate of 41% with whole genome sequencing (WGS) and 36% with whole exome sequencing, to neurology, achieving a diagnostic rate between 47 and 48.5% with WGS. This evidence has encouraged our group to pursue a molecular diagnosis using WGS for this and several other patients with rare diseases.

Results
We used whole genome sequencing to achieve a molecular diagnosis of a 7-year-old girl with a severe panvascular artery disease that remained for several years undiagnosed. We found a frameshift variant in one copy and a large deletion involving two exons in the other copy of a gene called YY1AP1. This gene is related to Grange syndrome, a recessive rare disease, whose symptoms include stenosis or occlusion of multiple arteries, congenital heart defects, brachydactyly, syndactyly, bone fragility, and learning disabilities. Bioinformatic analyses propose these mutations as the most likely cause of the disease, according to its frequency, in silico predictors, conservation analyses, and effect on the protein product. Additionally, we confirmed one mutation in each parent, supporting a compound heterozygous status in the child.

Conclusions
In general, we think that this finding can contribute to the use of whole genome sequencing as a diagnosis tool of rare diseases, and in particular, it can enhance the set of known mutations associated with different diseases.
Comparative analysis of deep learning image detection algorithms
Authors: Srivastava Shrey , Divekar Amit Vishvas , Anilkumar Chandu , Naik Ishika , Kulkarni Ved , Pattabiraman V. 
Published: May 2021

AbstractA computer views all kinds of visual media as an array of numerical values. As a consequence of this approach, they require image processing algorithms to inspect contents of images. This project compares 3 major image processing algorithms: Single Shot Detection (SSD), Faster Region based Convolutional Neural Networks (Faster R-CNN), and You Only Look Once (YOLO) to find the fastest and most efficient of three. In this comparative analysis, using the Microsoft COCO (Common Object in Context) dataset, the performance of these three algorithms is evaluated and their strengths and limitations are analysed based on parameters such as accuracy, precision and F1 score. From the results of the analysis, it can be concluded that the suitability of any of the algorithms over the other two is dictated to a great extent by the use cases they are applied in. In an identical testing environment, YOLO-v3 outperforms SSD and Faster R-CNN, making it the best of the three algorithms.
COVID-19 pandemic and the crude oil market risk: hedging options with non-energy financial innovations
Authors: Salisu Afees A. , Obiora Kingsley 
Published: May 2021

AbstractThis study examines the hedging effectiveness of financial innovations against crude oil investment risks, both before and during the COVID-19 pandemic. We focus on the non-energy exchange traded funds (ETFs) as proxies for financial innovations given the potential positive correlation between energy variants and crude oil proxies. We employ a multivariate volatility modeling framework that accounts for important statistical features of the non-energy ETFs and oil price series in the computation of optimal weights and optimal hedging ratios. Results show evidence of hedging effectiveness for the financial innovations against oil market risks, with higher hedging performance observed during the pandemic. Overall, we show that sectoral financial innovations provide resilient investment options. Therefore, we propose that including the ETFs in an investment portfolio containing oil could improve risk-adjusted returns, especially in similar financial crisis as witnessed during the pandemic. In essence, our results are useful for investors in the global oil market seeking to maximize risk-adjusted returns when making investment decisions. Moreover, by exploring the role of structural breaks in the multivariate volatility framework, our attempts at establishing robustness for the results reveal that ignoring the same may lead to wrong conclusions about the hedging effectiveness.
Screening the nematicidal potential of indigenous medicinal plant extracts against Meloidogyne incognita under lab. and greenhouse conditions
Authors: Kesba Hosny , Abdel-Rahman Abdullah , Sayed Samy , Al-Sayed Al-Sayed 
Published: May 2021

Abstract
Background
The root-knot nematode, Meloidogyne incognita, causes a high damage and yield decrease for many economic plants. The need for non-systemic effective new approaches and environmentally friendly methods for controlling the nematodes has directed research to some new and safe agrochemicals found in medicinal plants as new viable management options.

Results
In laboratory experiments, solidago and periwinkle aqueous and ethanolic extracts achieved high J2 mortality (%) concerning different dilutions; however, aqueous extracts were more effective for mortality than ethanolic extracts. Also, there was a direct relationship between the nematicidal activity of these extracts with both concentration and time of application. Inhibition of egg hatching by Periwinkle extracts was higher than that of solidago. Moreover, the nematicidal activity of tested extracts against J2 decreased significantly with prolonged storage time at + 5 °C, while did not with stored frozen at – 5 °C for 12 months. Periwinkle and solidago extracts killed the non-target organisms, i.e., rotifers and free-living nematodes. Seventy-five and 90% of total phytochemicals recovered from periwinkle and solidago, respectively were nematostatic or nematicidal to nematode viability, egg hatch in vitro, and development and reproduction in vivo despite the method of application (foliar and soil drench). The antagonistic effects of solidago were more pronounced in soil drench than periwinkle concerning their concentrations and methods of application.

Conclusion
Solidago and periwinkle plant extracts showed important sources of effective control phytochemicals against M. incognita.
Stochastic gel-shatter cycles in coalescence-fragmentation models
Authors: Fagan Brennen T. , MacKay Niall J. , Pushkin Dmitri O. , Jamie Wood A. 
Published: May 2021

Abstract
We describe a new phenomenon in models of coalescence and fragmentation, that of gel-shatter cycles. These are dynamical, unforced, stochastic cycles in which slow, approximately deterministic coalescence up to and beyond gelation is followed by abrupt random shattering. We describe their appearance in simulations of stochastic models with multiplicative kernels for coalescence and spontaneous fragmentation into monomers (“shattering”). The regime in which such cycles occur is characterized by a cyclicity order parameter, and we provide a simple scaling argument which describes both this regime and those which border it.
The Benefits of Rental Assistance for Children's Health and School Attendance in the United States
Authors: Fenelon Andrew , Boudreaux Michel , Slopen Natalie , Newman Sandra J. 
Published: May 2021

AbstractPrograms that provide affordable and stable housing may contribute to better child health and thus to fewer missed days of school. Drawing on a unique linkage of survey and administrative data, we use a quasi-experimental approach to examine the impact of rental assistance programs on missed days of school due to illness. We compare missed school days due to illness among children receiving rental assistance with those who will enter assistance within two years of their interview, the average length of waitlists for federal rental assistance. Overall, we find that children who receive rental assistance miss fewer days of school due to illness relative to those in the pseudo-waitlist group. We demonstrate that rental assistance leads to a reduction in the number of health problems among children and thus to fewer days of school missed due to illness. We find that the effect of rental assistance on missed school days is stronger for adolescents than for younger children. Additionally, race-stratified analyses reveal that rental assistance leads to fewer missed days due to illness among non-Hispanic White and Hispanic/Latino children; this effect, however, is not evident for non-Hispanic Black children, the largest racial/ethnic group receiving assistance. These findings suggest that underinvestment in affordable housing may impede socioeconomic mobility among disadvantaged non-Hispanic White and Hispanic/Latino children. In contrast, increases in rental assistance may widen racial/ethnic disparities in health among disadvantaged children, and future research should examine why this benefit is not evident for Black children.
Associations between Device-measured Physical Activity and Cardiometabolic Health in the Transition to Early Adulthood
Authors: MIELKE GREGORE I. , MENEZES ANA M. B. , DA SILVA BRUNA GONÇALVES C. , EKELUND ULF , CROCHEMORE-SILVA INACIO , WEHRMEISTER FERNANDO C. , GONÇALVES HELEN , BROWN WENDY J. 
Published: May 2021

ABSTRACT

Purposes
The aims of this study were to investigate the cross-sectional and prospective associations between accelerometer-measured physical activity and cardiometabolic health in the transition to adulthood.

Methods
Data from the 1993 Pelotas (Brazil) Birth Cohort were analyzed (n = 2280). Moderate-to-vigorous intensity physical activity (MVPA) (measured using a triaxial accelerometer) and cardiometabolic health (total fat mass, blood glucose, non-high-density lipoprotein cholesterol, triglycerides, and mean resting blood pressure) were examined at age 18 and 22 yr.

Results
Overall, inverse dose–response associations between MVPA and cardiometabolic health at age 18 and 22 yr were observed in cross-sectional analyses of data from men and women. Prospective analyses showed that, in general, MVPA declined, and cardiometabolic health worsened in this 4-yr period in both men and women. Cardiometabolic health at age 22 yr reflected both MVPA at age 18 yr (β, −0.007; 95% confidence interval [CI], −0.014 to 0.000) and changes in MVPA from 18 to 22 yr (β, −0.030; 95% CI, −0.043 to −0.016) in men, but only changes in MVPA in women (β, −0.035; 95% CI, −0.058 to −0.011). In analyses of change over time, men who improved MVPA by 20 to 30 min·d−1 showed significant improvements in cardiometabolic health over 4 yr. The magnitude of association was slightly stronger for MVPA in 10-min bouts than for MVPA accumulated in bouts of 1 min, especially in women.

Conclusions
Moderate-to-vigorous intensity physical activity is an important predictor of cardiometabolic health in early adulthood. Strategies to prevent declines in MVPA at this life stage are required to prevent deteriorating cardiometabolic health profiles.
Improving the leptospirosis disease burden assessment by including ambulatory patients from outpatient departments: a cross-sectional study
Authors: Warnasekara Janith , Aberathna Parami , Nanayakkara Geetha , Vinetz Joseph , Agampodi Suneth 
Published: May 2021

Background: In Sri Lanka, the disease burden of leptospirosis is estimated based on a routine notification system, which is predominated by patients ill enough to be hospitalized. The notification system does not function well with ambulatory patients in outpatient departments (OPDs). The objective of this study was to determine the proportion of leptospirosis in an OPD setting in a regional public hospital in Sri Lanka to provide further estimation of disease burden. Methods: This study was conducted in the OPD of the Rathnapura Provincial General Hospital from August to September 2017. Suspected leptospirosis patients were recruited based on standardized criteria and tested using the microscopic agglutination test and quantitative polymerase chain reaction. The number of OPD patients was compared with the reported patient numbers with leptospirosis from the hospital during the same period as the denominator, and the 95% confidence interval was calculated for the proportions using Poisson distribution. Results: During the study period, of 2,960 fever patients presenting to the OPD, 33 (1.1%) were suspected to have leptospirosis; 8/33 suspected (22.3%) cases were confirmed as being due to leptospirosis. There were 82 notifications of leptospirosis cases from hospital inpatients during the same period, none from the OPD. The total missing proportion from the surveillance system was 28.6% (95% CI, 19.4-40.4%). Among OPD patients, 12 (36.4%) had been given antibiotics from a primary care center prior to the OPD visit. No OPD patient was admitted to the hospital for inward care. Conclusions: More than 25% of cases of leptospirosis were not identified because they were not sick enough to be admitted nor subjected to routine leptospirosis diagnostic testing.These data have public health implications if the sources of leptospirosis transmission are to be controlled.
Detection of Burmese pythons in the near-infrared versus visible band
Authors: Hewitt Jennifer , Furxhi Orges , Renshaw C. Kyle , Driggers Ronald 
Published: May 2021

Human task performance studies are commonly used for detecting and identifying potential military threats. In this work, these principles are applied to detection of an environmental threat: the invasive Burmese python. A qualitative detection of Burmese pythons with a visible light camera and an 850 nm near-infrared (NIR) camera was performed in natural Florida backgrounds. The results showed that the difference in reflectivity between the pythons and native foliage was much greater in NIR, effectively circumventing the python’s natural camouflage in the visible band. In this work, a comparison of detection performance in the selected near-infrared band versus the visible band was conducted. Images of foliage backgrounds with and without a python were taken in each band in daylight and at night with illumination. Intensities of these images were then calibrated and prepared for a human perception test. Participants were tasked with detecting pythons, and the human perception data was used to compare performance between the bands. The results show that the enhanced contrast in the NIR enabled participants to detect pythons at 20% longer ranges than the use of visible imagery.
Investigation of thermal nonlinearity due to nJ high repetition rate fs pulses on wrinkled graphene
Authors: Dey Soumyodeep , Bongu Sudhakara Reddy , Sagar Vijay Kumar , Bisht Prem Ballabh 
Published: May 2021

Temporally broadened ultrashort laser pulses impart thermal effects in the system under study even with nJ energies at high repetition rates (HRRs). The absorption induced accumulated thermal effects are prominent in materials with higher absorption. A numerical and experimental study with the help of a Z-scan has been carried out to estimate the nonlinear thermo-optic parameters of graphene by varying the input pulse duration ranging from sub-ps (100 fs) to a few ps (2.3 ps) at 780 nm. It is well known that for longer input pulses (in ns range), the thermal effects are high. In this study, we have found that the thermal effects in the sub-ps to few ps regime also result in a higher value of the thermo-optic nonlinear refractive index. Finite difference method calculations have been used to simulate the effect on the nonlinear phase shift under HRR fs pulses. The study has been found to be consistent with experiments. The experimental results along with the numerical simulation provide the importance of the contribution of the thermally induced refractive index change under HRRs within a few ms after excitation.
High-field THz pulses from a GaAs photoconductive emitter for non-linear THz studies
Authors: Singh Abhishek , Li Jiang , Pashkin Alexej , Rana Rakesh , Winnerl Stephan , Helm Manfred , Schneider Harald 
Published: May 2021

We report the emission of high-field terahertz pulses from a GaAs large-area photoconductive emitter pumped with a Ti:Sapphire amplifier laser system at 800 nm wavelength and 1 kHz repetition rate. The maximum estimated terahertz electric field at the focus is ≳ 230 kV/cm. We also demonstrate the capability of the terahertz field to cause a non-linear effect, which usually requires high-field terahertz pulses generated through optical rectification or an air plasma. A significant drop in the optical conductivity of optically pumped GaAs due to Γ-L inter-valley scattering of free electrons caused by the strong THz field is found.
High-performance InGaAs/InAlAs single-photon avalanche diode with a triple-mesa structure for near-infrared photon detection
Authors: Zhang Jishen , Wang Haibo , Zhang Gong , Hua Tan Kian , Wicaksono Satrio , Xu Haiwen , Wang Chao , Chen Yue , Liang Yan , Lim Charles Ci Wen , Yoon Soon-Fatt , Gong Xiao 
Published: May 2021

We present a novel, to the best of our knowledge, InGaAs/InAlAs single-photon avalanche diode (SPAD) with a triple-mesa structure. Compared with the traditional mesa structures, the horizontal distribution of the electric field decreases dramatically, while the peaks of the electric field at the mesa edges are well eliminated in the triple-mesa structure, leading to an excellent suppression of the surface leakage current and premature breakdown. Furthermore, the temperature coefficient of the breakdown voltage was measured to be as small as 37.4 mV/K within a range from 150 to 270 K. Eventually, one of the highest single-photon detection efficiencies of 35% among all the InGaAs/InAlAs SPADs with a decent dark count rate of

3.3

×

10

7

H
z

was achieved at 240 K. Combined with the inherent ease of integration of the mesa structure, this high-performance triple-mesa InGaAs/InAlAs SPAD provides an effective solution for the fabrication of SPAD arrays and the on-chip integration of quantum systems.
High-sensitivity special open-cavity Mach–Zehnder structure for salinity measurement based on etched double-side hole fiber
Authors: Lin Ziting , Lv Riqing , Zhao Yong , Zheng Hongkun , Wang Xixin 
Published: May 2021

A special open-cavity Mach–Zehnder salinity sensor is presented and verified in this
Letter, which has obvious advantages in salinity sensitivity and loss.
The open-cavity structure is composed of a short section of etched
double-side hole fiber spliced between a pair of multimode fibers and
connected in series between a pair of single-mode fibers, which is the
SMF-MMF-etched DSHF-MMF-SMF structure proposed in the paper. According
to the experiment results, when the cavity length is about 100 µm, the
salinity sensitivity of the sensing probe can reach 2 nm/‰, and its
refractive index (RI) sensitivity can be more than 10,000 nm/RIU,
while having a low loss of

−

15

d
B

and a detection limit of 0.23‰.
Based on its characteristics, the sensor is a prospective online
monitor of ocean salinity. At the same time, it also provides a
low-cost way to construct an open cavity instead of femtosecond
inscribing.
Magnetically driven rotary microfilter fabricated by two-photon polymerization for multimode filtering of particles
Authors: Wang Chaowei , Hu Zhijiang , Yang Liang , Zhang Chenchu , Zhang Leran , Ji Shengyun , Xu Liqun , Li Jiawen , Hu Yanlei , Wu Dong , Chu Jiaru , Sugioka Koji 
Published: May 2021

In this Letter, a magnetically driven rotary microfilter that enables switching the modes of filtering and passing is fabricated in microfluidic devices via two-photon polymerization using a femtosecond laser for selective filtering of particles. The high-quality integration of a microfilter is ensured by accurately formulating the magnetic photoresist and optimizing the processing parameters. By changing the direction of the external magnetic field, the fabricated microfilter can be remotely manipulated to rotate by desired angles, thereby achieving the “filtering” or “passing” mode on demand. Taking advantage of this property, the magnetically rotary microfilter realizes multi-mode filtering functions such as capturing 8 µm particles/passing the 2.5 µm particles and passing both particles. More importantly, the responsive characteristic increases the reusability of the microchip. The lab-on-chip devices integrated with remotely rotary microfilters by the femtosecond laser two-photon polymerization with the functional photoresist will offer extensive applications in chemical and biological studies.
Habitar los durantes: procesos creativos en el estudio de reescrituras en la dramaturgia contemporánea
Authors: Sena Leticia Paz 
Published: May 2021

Investigar la dramaturgia contemporánea implica abordar la complejidad de escribir en/para la escena. La dramaturgia es una práctica específicamente teatral en la que la palabra está involucrada con las materialidades y temporalidades de la escena. En este marco, el estudio puntual de las prácticas reescriturales añade otras complejidades: el gesto de volver a escribir lo que ya ha sido escrito es de apropiación y recontextualización, lo que lleva a cuestionarse qué es la escritura, qué es la autoría, qué es el tiempo. A la vez, las prácticas artísticas del presente asumen su carácter político en la preocupación por los modos de crear, lo que trae para la investigación la necesidad metodológica de atender a los procesos creativos y no solo a las obras como productos o resultados.
En este trabajo nos proponemos aproximarnos al proceso creativo de Edipo R. —obra teatral de Organización Q, estrenada en Córdoba en 2008 y dirigida por Luciano Delprato— y nos interesa entender esta reescritura de Edipo Rey, de Sófocles, como un devenir‒menor, en términos de Deleuze y Guattari.
Description of Daily Nutritional Intake of Pregnant Women in Temanggung District, Central Java, Indonesia
Authors: Rahfiludin M. Zen , Dharmawan Yudhy 
Published: May 2021

Background: The nutritional status of pregnant women are affected by daily nutritional intake. Daily nutritional intake during pregnancy depends on total macronutrient intake and micronutrient intake. The aim of the study is to describe daily nutritional intake from pregnant women in Temanggung,Central Java, Indonesia.Method: This study was conducted from September – December 2016 in Temanggung. This was a cross sectional study and the respondents were recruited using purposive sampling technique. Total sample of this study were 60 pregnant women. Intakes of macronutrients (Energy, and Protein), and micronutrients were calculated based on Food Frequency Questionnaire (FFQ) Semi Quantitative and using Nutrisoft software, Demographic data were obtained by interviewing.Results Of the total 60 pregnant women, 40 (66,7%) were unemployed. The majority of educational level of the respondents (48,3%) were Junior High School. The mean gestational age were 6,70 ± 1,109 months. The mean intake of energy in 60 pregnant women was 2153,9833 ± 369 kcalConclusion: The majority of pregnant women in this study have adequate intake of both macro and micronutrient besides iron and folic acid.