bluuebunny/crossref_metadata_2025_split huggingface dataset:
Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP
Authors: Elfatih Amal , Da’as Sahar I , Abdelrahman Doua , Mbarek Hamdi , Mohammed Idris , Hasan Waseem , Fakhro Khalid A ,   for the The Qatar Genome Program Research Consortium, Ismail Said I , Al-Muftah Wadha , Badji Radja , Mbarek Hamdi , Darwish Dima , Fadl Tasnim , Yasin Heba , Ennaifar Maryem , Abdel-latif Rania , Alkuwari Fatima , Alvi Muhammad , Al Sarraj Yasser , Saad Chadi , Althani Asmaa , Fthenou Eleni , Qafoud Fatima , Alkhayat Eiman , Afifi Nahla , Tomei Sara , Liu Wei , Lorenz Stephan , Syed Najeeb , Almabrazi Hakeem , Rehaman Vempalli Fazulur , Temanni Ramzi , Abu Saqri Tariq , Husen Khatib Mohammed , Hamza Mehshad , Abu Zaid Tariq , El Khouly Ahmed , Pathare Tushar , Poolat Shafeeq , Al-Ali Rashid , Albagha Omar M E , Al-Khodor Souhaila , Alshafai Mashael , Badii Ramin , Chouchane Lotfi , Estivill Xavier , Fakhro Khalid A , Mbarek Hamdi , Mokrab Younes , Puthen Jithesh V , Suhre Karsten , Tatari Zohreh , Estivill Xavier , Mifsud Borbala 
Published: March 2022

Abstract
In order to report clinically actionable incidental findings in genetic testing, the American College of Medical Genetics and Genomics (ACMG) recommended the evaluation of variants in 59 genes associated with highly penetrant mutations. However, there is a lack of epidemiological data on medically actionable rare variants in these genes in Arab populations. We used whole genome sequencing data from 6045 participants from the Qatar Genome Programme and integrated it with phenotypic data collected by the Qatar Biobank. We identified novel putative pathogenic variants in the 59 ACMG genes by filtering previously unrecorded variants based on computational prediction of pathogenicity, variant rarity and segregation evidence. We assessed the phenotypic associations of candidate variants in genes linked to cardiovascular diseases. Finally, we used a zebrafish knockdown and synthetic human mRNA co-injection assay to functionally characterize two of these novel variants. We assessed the zebrafish cardiac function in terms of heart rate, rhythm and hemodynamics, as well as the heart structure. We identified 52 492 novel variants, which have not been reported in global and disease-specific databases. A total of 74 novel variants were selected with potentially pathogenic effect. We prioritized two novel cardiovascular variants, DSP c.1841A &gt; G (p.Asp614Gly) and LMNA c.326 T &gt; G (p.Val109Gly) for functional characterization. Our results showed that both variants resulted in abnormal zebrafish heart rate, rhythm and structure. This study highlights medically actionable variants that are specific to the Middle Eastern Qatari population.
Missed Opportunities: Participation of NGOs in Advisory Proceedings of the African Court on Human and Peoples’ Rights
Authors: D’Amour Bizimana Jean 
Published: March 2022

Abstract
This article scrutinizes the participation of NGOs in advisory proceedings of the African Court on Human and Peoples’ Rights. Contrary to its regional counterparts, the Court allows NGOs to petition for advisory opinions. In addition, NGOs can contribute to its advisory proceedings as amici curiae. Surprisingly, the Court has only delivered two advisory opinions requested by an NGO within the last 15 years. Moreover, the rate of amici interventions by NGOs in this Court’s advisory cases has been exceptionally infrequent. This article views that the less productive use of ACtHPR’s advisory function by NGOs is a loss to the African human rights system and is attributable not only to the Court itself but also to NGOs and State parties to the ACtHPR. It also holds that amici NGOs have been very instrumental to advisory proceedings and having greater participation of amici NGOs would provide concrete benefits to the proceedings.
The Influence of Oxytocin and Prolactin During a First Episode of Psychosis: The Implication of Sex Differences, Clinical Features, and Cognitive Performance
Authors: Hidalgo-Figueroa María , Salazar Alejandro , Romero-López-Alberca Cristina , MacDowell Karina S , García-Bueno Borja , Bioque Miquel , Bernardo Miquel , Parellada Mara , González-Pinto Ana , García Portilla María Paz , Lobo Antonio , Rodriguez-Jimenez Roberto , Berrocoso Esther , Leza Juan C ,   FLAMM-PEPs study,   CIBERSAM
Published: March 2022

Abstract

Background
Approximately 3% of the population suffers a first episode of psychosis (FEP), and a high percentage of these patients subsequently relapse. Because the clinical course following a FEP is hard to predict, it is of interest to identify cognitive and biological markers that will help improve the diagnosis, treatment, and outcome of such events and to define new therapeutic targets. Here we analyzed the plasma oxytocin and prolactin levels during an FEP, assessing their correlation with clinical and cognitive features.

Methods
The oxytocin and prolactin in plasma was measured in 120 FEP patients and 106 healthy controls, all of whom were subjected to a clinical and neuropsychological assessment. Most patients were under antipsychotics. Statistical analyses aimed to identify factors associated with the FEP and to search for associations between the variables. This study is preliminary and exploratory because the P-values were not corrected for multiple comparisons.

Results
FEP patients had less oxytocin, more prolactin, and a poor premorbid IQ, and they performed worse in sustained attention. Male patients with higher prolactin levels experienced more severe psychotic symptoms and required higher doses of antipsychotics. Low oxytocin was associated with poor sustained attention in women, whereas low oxytocin and high prolactin in men correlated with better performance in sustained attention.

Conclusion
Low oxytocin, high prolactin, and poor premorbid IQ and sustained attention are factors associated with an FEP, representing potential therapeutic targets in these patients. These biological factors and cognitive domains might play an important role during a FEP, which could help us to develop new strategies that improve the outcomes of this disorder and that should perhaps be gender specific.
Pediatric sexual orientation and gender identity data collection in the electronic health record
Authors: Goldhammer Hilary , Grasso Chris , Katz-Wise Sabra L , Thomson Katharine , Gordon Allegra R , Keuroghlian Alex S 
Published: March 2022

Abstract
The systematic documentation of sexual orientation and gender identity data in electronic health records can improve patient-centered care and help to identify and address health disparities affecting sexual and gender minority populations. Although there are existing guidelines for sexual orientation and gender identity data among adult patients, there are not yet standard recommendations for pediatric patients. In this article, we discuss methods that pediatric primary care organizations can use to collect and document sexual orientation and gender identity information with children and adolescents in electronic health records. These recommendations take into consideration children’s developmental stages, the role of caregivers, and the need to protect the privacy of this information. We also focus on the current limitations of electronic health records in capturing the nuances of sexual and gender minority identities and make suggestions for addressing these limitations.
The (fuzzy) digital divide: the effect of universal broadband on firm performance
Authors: DeStefano Timothy , Kneller Richard , Timmis Jonathan 
Published: March 2022

Abstract
Differences in access to high-speed broadband between urban and rural locations are known as the ‘digital divide’. Governments around the world have committed to spending considerable amounts of money to alleviate disparities in broadband infrastructure. However, to date, there is limited causal evidence for broadband and firm performance with even less of an understanding on whether the effects are distinct between firms located in urban versus rural localities. In this article, we exploit geographical discontinuities in broadband availability across the UK to capture the causal effects on firms on both sides of this divide. We find for both urban and rural firms that broadband causes an increase in their size, but not labor productivity. In addition, we find evidence that these size effects are strongest for urban firms, but for both urban and rural firms, the effects are concentrated in knowledge-intensive industries.
Determination of the Discriminating Concentration Towards Permethrin for Surveying Resistance in Amblyomma americanum
Authors: Kaplan Z D , Richardson E A , Taylor C E , Kaufman P E , Weeks E N I 
Published: March 2022

Abstract
Amblyomma americanum Linnaeus (Ixodida: Ixodidae) is ubiquitously present throughout the southeastern United States and is capable of vectoring several pathogens. White-tailed deer are the main host for adult A. americanum. However, this tick species is a generalist that will feed on most vertebrates, including humans, deer, livestock, and pets. Management of this species can be challenging due to a lack of cost-effective strategies. Acaricides are often utilized, however, this may lead to pesticide resistance. The Food and Agriculture Organization of the United Nations (FAO) larval packet test (LPT) was performed on susceptible A. americanum to determine the lethal concentration (LC) and discriminating concentration (DC) values for permethrin. The FAO LPT was used at these pre-established values to compare levels of resistance in ticks collected from a captive deer farm and wild areas representing high and low permethrin exposure settings, respectively. Resistance ratios (RR) calculated from the LC values for the ticks collected from farmed and wild deer ranged between 1 and 2. A. americanum collected from farmed and wild deer were not found to be resistant, however, some samples had slightly elevated RRs as compared to the susceptible laboratory strain, which may suggest tolerance development. Although the A. americanum sampled in this study were not resistant to permethrin, the DC calculated in this study will allow for rapid evaluation of resistance in a permethrin resistance monitoring program such that alternate management strategies can be adopted if resistance is detected.
Association of Genetic Ancestry With Terminal Duct Lobular Unit Involution Among Healthy Women
Authors: Sung Hyuna , Koka Hela , Marino Natascia , Pfeiffer Ruth M , Cora Renata , Figueroa Jonine D , Sherman Mark E , Gierach Gretchen L , Yang Xiaohong R 
Published: March 2022

Abstract
Reduced age-related terminal duct lobular unit (TDLU) involution has been linked to increased breast cancer risk and triple-negative breast cancer. Associations of TDLU involution levels with race and ethnicity remain incompletely explored. Herein, we examined the association between genetic ancestry and TDLU involution in normal breast tissue donated by 2014 healthy women in the United States. Women of African ancestry were more likely than European women to have increased TDLU counts (odds ratio [OR]trend = 1.36, 95% confidence interval [CI] = 1.07 to 1.74), acini counts per TDLU (OR = 1.47, 95% CI = 1.06 to 2.03), and median TDLU span (ORtrend = 1.44, 95% CI = 1.08 to 1.91), indicating lower involution, whereas East Asian descendants were associated with decreased TDLU counts (ORtrend = 0.52, 95% CI = 0.35 to 0.78) after controlling for potential confounders. These associations are consistent with the racial variations in incidence rates of triple-negative breast cancer in the United States and suggest opportunities for future work examining whether TDLU involution may mediate the racial differences in subtype-specific breast cancer risk.
Diversity, phylogeny, and adaptation of bryophytes: insights from genomic and transcriptomic data
Authors: Wang Qing-Hua , Zhang Jian , Liu Yang , Jia Yu , Jiao Yuan-Nian , Xu Bo , Chen Zhi-Duan 
Published: March 2022

AbstractBryophytes including mosses, liverworts, and hornworts are among the earliest land plants, and occupy a crucial phylogenetic position to aid in the understanding of plant terrestrialization. Despite their small size and simple structure, bryophytes are the second largest group of extant land plants. They live ubiquitously in various habitats and are highly diversified, with adaptive strategies to modern ecosystems on Earth. More and more genomes and transcriptomes have been assembled to address fundamental questions in plant biology. Here, we review recent advances in bryophytes associated with diversity, phylogeny, and ecological adaptation. Phylogenomic studies have provided increasing supports for the monophyly of bryophytes, with hornworts sister to the Setaphyta clade including liverworts and mosses. Further comparative genomic analyses revealed that multiple whole-genome duplications might have contributed to the species richness and morphological diversity in mosses. We highlight that the biological changes through gene gain or neofunctionalization that primarily evolved in bryophytes have facilitated the adaptation to early land environments; among the strategies to adapt to modern ecosystems in bryophytes, desiccation tolerance is the most remarkable. More genomic information for bryophytes would shed light on key mechanisms for the ecological success of these ‘dwarfs’ in the plant kingdom.
Wide-band spectral variability of peaked spectrum sources
Authors: Ross K , Hurley-Walker N , Seymour N , Callingham J R , Galvin T J , Johnston-Hollitt M 
Published: March 2022

ABSTRACT
Characterizing spectral variability of radio sources is a technique that offers the ability to determine the astrophysics of the intervening media, source structure, emission, and absorption processes. We present broadband (0.072–10 GHz) spectral variability of 15 peaked-spectrum (PS) sources with the Australia Telescope Compact Array (ATCA) and the Murchison Widefield Array (MWA). These 15 PS sources were observed quasi-contemporaneously with ATCA and the MWA four to six times during 2020 with approximately a monthly cadence. Variability was not detected at 1–10 GHz frequencies but 13 of the 15 targets show significant variability with the MWA at megahertz frequencies. We conclude the majority of variability seen at megahertz frequencies is due to refractive interstellar scintillation of a compact component ∼25 mas across. We also identify four PS sources that show a change in their spectral shape at megahertz frequencies. Three of these sources are consistent with a variable optical depth from an inhomogeneous free–free absorbing cloud around the source. One PS source with a variable spectral shape at megahertz frequencies is consistent with an ejection travelling along the jet. We present spectral variability as a method for determining the physical origins of observed variability and for providing further evidence to support absorption models for PS sources where spectral modelling alone is insufficient.
Angular momentum transport and thermal stabilization of optically thin, advective accretion flows through large-scale magnetic fields
Authors: Datta Sudeb Ranjan , Mondal Tushar , Mukhopadhyay Banibrata 
Published: March 2022

ABSTRACT
Outward transport of angular momentum, as well as viscous and thermal stability, are the necessary criteria for the formation of an accretion disc and to radiate steadily. Turbulent motions originating from magneto-rotational instability or hydrodynamic instability can do the required transport. We explore the effect of a large-scale magnetic field (LSMF) over the turbulent transport in an optically thin advective accretion disc. In this work, turbulent transport is represented through the usual Shakura–Sunyaev α-viscosity. The evolution of the magnetic field and other variables is found by solving vertically integrated height-averaged magnetohydrodynamic equations. Depending on its configuration, the LSMF can support or oppose α in outward transport of angular momentum. Once outward transport of angular momentum is assured, i.e. formation of the disc is confirmed through the combined effect of α-viscosity and the LSMF, we explore the impact of the LSMF in thermally stabilizing the disc. As found earlier, we also find that the advection of heat energy becomes zero or negative with an increasing accretion rate. That is why, at or above a critical accretion rate, the optically thin advective disc becomes thermally unstable. We show, however, that with the addition of a strong enough magnetic field, the disc regains its thermal stability and Joule heating turns out to play the key role in that. Throughout our analysis, the plasma-β (βm) remains within the range of 5–103, which does not impose any restriction in the simultaneous operation of the LSMF and the turbulent transport.
Super-Eddington accretion of the first Galactic ultra-luminous X-ray pulsar Swift J0243.6+6124
Authors: Liu Jiren , Jenke Peter A , Ji Long , Zhang Shuang-Nan , Zhang Shu , Ge Mingyu , Liao Jinyuan , Li Xiaobo , Song Liming 
Published: March 2022

ABSTRACT
We present a detailed timing study of the pulse profile of Swift J0243.6+6124 with Hard X-ray Modulation Telescope (HXMT) and Fermi/GBM (Gamma-ray Burst Monitor) data during its 2017 giant outburst. The double-peak profile at luminosity above 5 × 1038 erg s−1 is found to be 0.25 phase offset from that below 1.5 × 1038erg s−1, which strongly supports for a transition from a pencil beam to a fan beam, and thus for the formation of shock dominated accretion column. During the rising stage of the high double-peak regime, the faint peak got saturated in 10–100 keV band above a luminosity of Lt ∼ 1.3 × 1039erg s−1, which is coincident with sudden spectral changes of both the main and faint peaks. They imply a sudden change of emission pattern around Lt. The spin-up rate ($\dot{\nu }$) is linearly correlated with luminosity (L) below Lt, consistent with the prediction of a radiation pressure dominated disc. The $\dot{\nu }-L$ relation flattens above Lt, indicating a less efficient transfer of angular momentum and a change of accretion disc geometry above Lt. It is likely due to irradiation of the disc by the central accretion column and indicates significant radiation feedback well before the inner disc radius reaching the spherization radius.
CHANG-ES XXIX: the sub-kpc nuclear bubble of NGC 4438
Authors: Li Jiang-Tao , Wang Q Daniel , Wiegert Theresa , Bregman Joel N , Beck Rainer , Damas-Segovia Ancor , Irwin Judith A , Ji Li , Stein Yelena , Sun Wei , Yang Yang 
Published: March 2022

ABSTRACT
Active galactic nucleus (AGN) bubbles could play an important role in accelerating high-energy cosmic rays (CRs) and galactic feedback. Only in nearby galaxies could we have high enough angular resolution in multiwavelengths to study the sub-kpc environment of the AGN, where the bubbles are produced and strongly interact with the surrounding interstellar medium. In this paper, we present the latest Chandra observations of the Virgo cluster galaxy NGC 4438, which hosts multiscale bubbles detected in various bands. The galaxy also has low current star formation activity, so these bubbles are evidently produced by the AGN rather than a starburst. We present spatially resolved spectral analysis of the Chandra data of the ∼3 arcsec × 5 arcsec (${\sim} 200{\rm ~pc}\times 350\rm ~pc$) nuclear bubble of NGC 4438. The power-law tail in the X-ray spectra can be most naturally explained as synchrotron emission from high-energy CR leptons. The hot gas temperature increases, while the overall contribution of the non-thermal X-ray emission decreases with the vertical distance from the galactic plane. We calculate the synchrotron cooling time-scale of the CR leptons responsible for the non-thermal hard X-ray emission to be only a few tens to a few hundreds of years. The thermal pressure of the hot gas is about three times the magnetic pressure, but the current data cannot rule out the possibility that they are still in pressure balance. The spatially resolved spectroscopy presented in this paper may have important constraints on how the AGN accelerates CRs and drives outflows. We also discover a transient X-ray source only ∼5 arcsec from the nucleus of NGC 4438. The source was not detected in 2002 and 2008, but became quite X-ray bright in 2020 March, with an average 0.5–7 keV luminosity of ${\sim} 10^{39}\rm ~erg~s^{-1}$.
The hardness–intensity correlation of photospheric emission from a structured jet for gamma-ray bursts
Authors: Song Xin-Ying , Meng Yan-Zhi 
Published: March 2022

ABSTRACT
For many gamma-ray bursts (GRBs), hardness–intensity correlation (HIC) can be described by a power-law function, Ep ∝ Fκ, where Ep is the peak energy of νFν spectrum, and F is the instantaneous energy flux. In this paper, HIC of the non-dissipative photospheric emission from a structured jet is studied in different regimes. An intermediate photosphere, which contains both of unsaturated and saturated emissions is introduced, and we find positive κ &lt; 1/4 in this case. The same conclusion could be generalized to the photospheric emission from a hybrid jet without magnetic dissipations, or that with sub-photospheric magnetic dissipations and fully thermalized. This may imply that the contribution peaking at ∼1/2 in the distribution of observed κ are mainly from the prompt emission of GRBs with synchrotron origin. Besides, emissions of the intermediate photosphere could give a smaller low-energy photon index α than that in the unsaturated regime, and naturally reproduce anticorrelation in α − Ep in a GRB pulse.
Chemical composition of a palomar 12 blue straggler
Authors: Pasquini L , Bonifacio P , Pulone L , Modigliani A , Brocato E , Sbordone L , Randich S , Cupani G 
Published: March 2022

ABSTRACT
With the equivalent area of a 16-m telescope, ESPRESSO in 4UT mode allows to inaugurate high resolution spectroscopy for solar-type stars belonging to extragalactic globular clusters. We determine the chemical composition of an extragalactic blue straggler (BS). The star has a G magnitude of 19.01 and belongs to the globular cluster Pal12, that is associated to the Sagittarius dwarf galaxy. Abundances are computed by using high resolution spectroscopy and LTE analysis. Two 50 min ESPRESSO spectra, co-added, provide a signal-to-noise ratio of ∼25 with a resolving power R∼70 000. This allows us to measure with good precision abundance of several (13) elements. Li could help to distinguish between formation models of BS; we are able to set a 3σ upper limit of Li = 3.1, which is still too high to discriminate between competing models. The abundances we retrieve for the BS are compatible with those of giant stars of Pal 12 published in literature, re-analysed by us using the same procedure and line list. Small differences are present that can be ascribed to NLTE effects, but for Mg the BS shows a large under-abundance. The most likely explanation is that the BS atmosphere is dominated by gas processed through the Mg-Al cycle, but we have no suitable Al or Na lines to confirm this hypothesis. We show that ESPRESSO with 4UT can be used to derive precise abundances for solar-type stars fainter than magnitude 19. At these magnitudes a proper sky subtraction is needed and in crowded field the targets must be chosen with utmost care, to avoid contamination of the sky fibre from nearby stars.