bluuebunny/crossref_metadata_2025_split huggingface dataset:
Importancia de la genómica en el diagnóstico de nuevas variantes asociadas a trastornos del tejido conectivo con solapamiento fenotípico
Authors: Quiñones Rincón Anni Karina , Moreno Giraldo Lina Johanna 
Published: April 2024

La Aracnodactilia Contractural Congénita (ACC) es una enfermedad del tejido conectivo de herencia autosómica dominante, causada por variantes en el gen FBN2 que codifica la fibrilina-2. Tiene características específicas como contracturas congénitas, oreja con hélice superior arrugada, camptodactilia, pectus carinatum y complicaciones como escoliosis y la cifoescoliosis. Publicamos el caso de una paciente femenina de 19 años con historia de delgadez, velocidad de crecimiento acelerada, talla alta, pérdida de peso, contracturas articulares, hipotonía congénita, pubertad precoz, hábito marfanoide, pectus carinatum y leve aracnodactilia. Se sospecha de enfermedad del colágeno y se solicita secuenciación del exoma completo mediante NGS (del inglés Next Generation Sequencing) + CNVs (del inglés Copy Number Variations) genes relacionados con colagenopatías; se identificó una variante en el gen FBN2 (NM_001999.4): c.4394G>A; p.Cys1465Tyr; estado heterocigoto de significancia clínica probablemente patogénica. La ACC es fenotípicamente similar al síndrome de Marfán y se caracteriza por aracnodactilia, dolicostenomelia, escoliosis, contracturas congénitas múltiples y anomalías de los oídos externos. A diferencia del síndrome de Marfán; no tiene compromiso ocular ni afecta la raíz aórtica. Cuenta con variabilidad fenotípica que le dan la heterogeneidad que pueden interferir y retrasar el proceso diagnóstico y terapéutico específico al solaparse con otras condiciones médicas. Los avances en la medicina y la genómica con la utilización de nuevos métodos diagnósticos han permitido que cada día nos acerquemos más a la medicina 6P (precisión, predicción, prevención, personalizada, participativa con enfoque poblacional) que impacta en el diagnóstico, tratamiento específico, seguimiento, pronóstico y adecuado asesoramiento genético de las enfermedades.
Planet Hunters TESS. V. A Planetary System Around a Binary Star, Including a Mini-Neptune in the Habitable Zone
Authors: Eisner Nora L. , Grunblatt Samuel K. , Barragán Oscar , Faridani Thea H. , Lintott Chris , Aigrain Suzanne , Johnston Cole , Mason Ian R. , Stassun Keivan G. , Bedell Megan , Boyle Andrew W. , Ciardi David R. , Clark Catherine A. , Hebrard Guillaume , Hogg David W. , Howell Steve B. , Klein Baptiste , Llama Joe , Winn Joshua N. , Zhao Lily L. , Murphy Joseph M. Akana , Beard Corey , Brinkman Casey L. , Chontos Ashley , Cortes-Zuleta Pia , Delfosse Xavier , Giacalone Steven , Gilbert Emily A. , Heidari Neda , Holcomb Rae , Jenkins Jon M. , Kiefer Flavien , Lubin Jack , Martioli Eder , Polanski Alex S. , Saunders Nicholas , Seager Sara , Shporer Avi , Tyler Dakotah , Van Zandt Judah , Alhassan Safaa , Amratlal Daval J. , Antonel Lais I. , Bentzen Simon L. S. , Bosch Milton K. D , Bundy David , Chitsiga Itayi , Delaunay Jérôme F. , Doisy Xavier , Ferstenou Richard , Fynø Mark , Geary James M. , Haynaly Gerry , Hermes Pete , Huten Marc , Lee Sam , Metcalfe Paul , Pennell Garry J. , Puszkarska Joanna , Schäfer Thomas , Stiller Lisa , Tanner Christopher , Tarr Allan , Wilkinson Andrew 
Published: April 2024

Abstract
We report on the discovery and validation of a transiting long-period mini-Neptune orbiting a bright (V = 9.0 mag) G dwarf (TOI 4633; R = 1.05 R
⊙, M = 1.10 M
⊙). The planet was identified in data from the Transiting Exoplanet Survey Satellite by citizen scientists taking part in the Planet Hunters TESS project. Modelling of the transit events yields an orbital period of 271.9445 ± 0.0040 days and radius of 3.2 ± 0.20 R
⊕. The Earth-like orbital period and an incident flux of

1.56

−
0.16

+
0.20

F
⊕ places it in the optimistic habitable zone around the star. Doppler spectroscopy of the system allowed us to place an upper mass limit on the transiting planet and revealed a non-transiting planet candidate in the system with a period of 34.15 ± 0.15 days. Furthermore, the combination of archival data dating back to 1905 with new high angular resolution imaging revealed a stellar companion orbiting the primary star with an orbital period of around 230 yr and an eccentricity of about 0.9. The long period of the transiting planet, combined with the high eccentricity and close approach of the companion star makes this a valuable system for testing the formation and stability of planets in binary systems.
The Atacama Cosmology Telescope: Mitigating the Impact of Extragalactic Foregrounds for the DR6 Cosmic Microwave Background Lensing Analysis
Authors: MacCrann Niall , Sherwin Blake D. , Qu Frank J. , Namikawa Toshiya , Madhavacheril Mathew S. , Abril-Cabezas Irene , An Rui , Austermann Jason E. , Battaglia Nicholas , Battistelli Elia S. , Beall James A. , Bolliet Boris , Bond J. Richard , Cai Hongbo , Calabrese Erminia , Coulton William R. , Darwish Omar , Duff Shannon M. , Duivenvoorden Adriaan J. , Dunkley Jo , Farren Gerrit S. , Ferraro Simone , Golec Joseph E. , Guan Yilun , Han Dongwon , Hervías-Caimapo Carlos , Hill J. Colin , Hilton Matt , Hložek Renée , Hubmayr Johannes , Kim Joshua , Li Zack , Kosowsky Arthur , Louis Thibaut , McMahon Jeff , A. Marques Gabriela , Moodley Kavilan , Naess Sigurd , Niemack Michael D. , Page Lyman , Partridge Bruce , Schaan Emmanuel , Sehgal Neelima , Sifón Cristóbal , Wollack Edward J. , Salatino Maria , Ullom Joel N. , Van Lanen Jeff , Van Engelen Alexander , Wenzl Lukas 
Published: April 2024

Abstract
We investigate the impact and mitigation of extragalactic foregrounds for the cosmic microwave background (CMB) lensing power spectrum analysis of Atacama Cosmology Telescope (ACT) data release 6 (DR6) data. Two independent microwave sky simulations are used to test a range of mitigation strategies. We demonstrate that finding and then subtracting point sources, finding and then subtracting models of clusters, and using a profile bias-hardened lensing estimator together reduce the fractional biases to well below statistical uncertainties, with the inferred lensing amplitude, A
lens, biased by less than 0.2σ. We also show that another method where a model for the cosmic infrared background (CIB) contribution is deprojected and high-frequency data from Planck is included has similar performance. Other frequency-cleaned options do not perform as well, either incurring a large noise cost or resulting in biased recovery of the lensing spectrum. In addition to these simulation-based tests, we also present null tests on the ACT DR6 data for sensitivity of our lensing spectrum estimation to differences in foreground levels between the two ACT frequencies used, while nulling the CMB lensing signal. These tests pass whether the nulling is performed at the map or bandpower level. The CIB-deprojected measurement performed on the DR6 data is consistent with our baseline measurement, implying that contamination from the CIB is unlikely to significantly bias the DR6 lensing spectrum. This collection of tests gives confidence that the ACT DR6 lensing measurements and cosmological constraints presented in companion papers to this work are robust to extragalactic foregrounds.
Gas-dynamical Mass Measurements of the Supermassive Black Holes in the Early-type Galaxies NGC 4786 and NGC 5193 from ALMA and HST Observations*
Authors: Kabasares Kyle M. , Cohn Jonathan H. , Barth Aaron J. , Boizelle Benjamin D. , Davidson Jared R. , Sy Janelle M. , Flores-Velázquez Jeysen , Delgado Andrade Silvana C. , Buote David A. , Walsh Jonelle L. , Baker Andrew J. , Darling Jeremy , Ho Luis C. 
Published: April 2024

Abstract
We present molecular gas-dynamical mass measurements of the central black holes in the giant elliptical galaxies NGC 4786 and NGC 5193, based on CO (2−1) observations from the Atacama Large Millimeter/submillimeter Array (ALMA) and Hubble Space Telescope near-infrared imaging. The central region in each galaxy contains a circumnuclear disk that exhibits orderly rotation with projected line-of-sight velocities of ∼270 km s−1. We build gas-dynamical models for the rotating disk in each galaxy and fit them directly to the ALMA data cubes. At 0.″31 resolution, the ALMA observations do not fully resolve the black hole sphere of influence (SOI), and neither galaxy exhibits a central rise in rotation speed, indicating that emission from deep within the SOI is not detected. As a result, our models do not tightly constrain the central black hole mass in either galaxy, but they prefer the presence of a central massive object in both galaxies. We measure the black hole mass to be

(

M

BH

/

10

8

M

⊙

)
=
5.0
±
0.2

[
1
σ

statistical
]

−
1.3

+
1.4

[
systematic
]

in NGC 4786 and

(

M

BH

/

10

8

M

⊙

)
=
1.4
±
0.03

[
1
σ

statistical

]

−
0.1

+
1.5

[
systematic
]

in NGC 5193. The largest component of each measurement’s error budget is from the systematic uncertainty associated with the extinction correction in the host galaxy models. This underscores the importance of assessing the impact of dust attenuation on the inferred M
BH.
Dissipative Dark Matter on FIRE. II. Observational Signatures and Constraints from Local Dwarf Galaxies
Authors: Shen Xuejian , Hopkins Philip F. , Necib Lina , Jiang Fangzhou , Boylan-Kolchin Michael , Wetzel Andrew 
Published: April 2024

Abstract
We analyze the first cosmological baryonic zoom-in simulations of galaxies in dissipative self-interacting dark matter (dSIDM). The simulations utilize the FIRE-2 galaxy formation physics with the inclusion of dissipative dark matter self-interactions modeled as a constant fractional energy dissipation (f
diss = 0.75). In this paper, we examine the properties of dwarf galaxies with M
* ∼ 105–109
M
⊙ in both isolation and within Milky Way–mass hosts. For isolated dwarfs, we find more compact galaxy sizes and promotion of disk formation in dSIDM with (σ/m) ≤ 1 cm2 g−1. On the contrary, models with (σ/m) = 10 cm2 g−1 produce puffier stellar distributions that are in tension with the observed size–mass relation. In addition, owing to the steeper central density profiles, the subkiloparsec circular velocities of isolated dwarfs when (σ/m) ≥ 0.1 cm2 g−1 are enhanced by about a factor of 2, which are still consistent with the kinematic measurements of Local Group dwarfs but in tension with the H i rotation curves of more massive field dwarfs. Meanwhile, for satellites of Milky Way–mass hosts, the median circular velocity profiles are marginally affected by dSIDM physics, but dSIDM may help promote the structural diversity of dwarf satellites. The number of satellites is slightly enhanced in dSIDM, but the differences are small compared with the large host-to-host variations. In conclusion, the dSIDM models with (σ/m) ≳ 0.1 cm2 g−1, f
diss = 0.75 are in tension in massive dwarfs (M
halo ∼ 1011
M
⊙) due to circular velocity constraints. However, models with lower effective cross sections (at this halo mass/velocity scale) are still viable and can produce nontrivial observable signatures.
Spatial Variations and Breaks in the Optical–Near-infrared Spectra of the Pulsar and Pulsar Wind Nebula in Supernova Remnant 0540–69.3
Authors: Tenhu L. , Larsson J. , Sollerman J. , Lundqvist P. , Spyromilio J. , Lyman J. D. , Olofsson G. 
Published: April 2024

Abstract
The supernova remnant (SNR) 0540–69.3, twin of the Crab Nebula, offers an excellent opportunity to study the continuum emission from a young pulsar and pulsar wind nebula (PWN). We present observations taken with the Very Large Telescope instruments MUSE and X-shooter in the wavelength range 3000–25000 Å, which allow us to study spatial variations of the optical spectra, along with the first near-infrared (NIR) spectrum of the source. We model the optical spectra with a power law (PL) F

ν
∝ ν
−α
and find clear spatial variations (including a torus–jet structure) in the spectral index across the PWN. Generally, we find spectral hardening toward the outer parts, from α ∼ 1.1 to ∼0.1, which may indicate particle reacceleration by the PWN shock at the inner edge of the ejecta or alternatively time variability of the pulsar wind. The optical–NIR spectrum of the PWN is best described by a broken PL, confirming that several breaks are needed to model the full spectral energy distribution of the PWN, and suggesting the presence of more than one particle population. Finally, subtracting the PWN contribution from the pulsar spectrum we find that the spectrum is best described with a broken-PL model with a flat and a positive spectral index, in contrast to the Crab pulsar that has a negative spectral index and no break in the optical. This might imply that pulsar differences propagate to the PWN spectra.
Spectroscopic Observations of the Solar Corona during the 2017 August 21 Total Solar Eclipse: Comparison of Spectral Line Widths and Doppler Shifts between Open and Closed Magnetic Structures
Authors: Zhu 朱 Yingjie 英杰 , Habbal Shadia R. , Ding Adalbert , Yamashiro Bryan , Landi Enrico , Boe Benjamin , Constantinou Sage , Nassir Michael 
Published: April 2024

Abstract
The spectroscopic observations presented here were acquired during the 2017 August 21 total solar eclipse (TSE) with a three-channel partially multiplexed imaging spectrometer operating at extremely high orders (>50). The 4 R
⊙ extent of the slit in the north–south direction scanned the corona starting from the central meridian out to approximately 1.0 R
⊙ off the east limb throughout totality. The line widths and Doppler shifts of the Fe x (637.4 nm) and Fe xiv (530.3 nm) emission lines, characteristic of 1.1 × 106 K and 1.8 × 106 K electron temperatures, respectively, varied across the different coronal structures intercepted by the slit. Fe xiv was the dominant emission in the closed fields of an active region and the base of a streamer, with relatively constant 20–30 km s−1 line widths independent of the height. In contrast, Fe x emission exhibited broader (>40 km s−1) line widths in open fields, which increased with height, in particular in the polar coronal hole. Inferences of line widths and Doppler shifts were consistent with extreme ultraviolet (EUV) observations from the Hinode/EUV Imaging Spectrograph, as well as with the near-infrared Fe xiii 1074 nm line observed by Coronal Multichannel Polarimeter. The differences in the spectral line widths between distinct coronal structures are interpreted as an indication of the predominance of wave heating in open structures versus localized heating in closed structures. This study underscores the unparalleled advantages and the enormous potential of TSE spectroscopy in measuring line widths simultaneously in open and closed fields at high altitudes, with minimal exposure times, stray light levels, and instrumental widths.
Analysis of BMR Tilt from AutoTAB Catalog: Hinting toward the Thin Flux Tube Model?
Authors: Sreedevi Anu , Jha Bibhuti Kumar , Karak Bidya Binay , Banerjee Dipankar 
Published: April 2024

Abstract
One of the intriguing mechanisms of the Sun is the formation of bipolar magnetic regions (BMRs) in the solar convection zone (CZ), which are observed as regions of concentrated magnetic fields of opposite polarity on the photosphere. These BMRs are tilted with respect to the equatorial line, which statistically increases with latitude. The thin flux tube model, employing the rise of magnetically buoyant flux loops and their twist by Coriolis force, is a popular paradigm for explaining the formation of tilted BMRs. In this study, we assess the validity of the thin flux tube model by analyzing the tracked BMR data obtained through the Automatic Tracking Algorithm for BMRs. Our observations reveal that the tracked BMRs exhibit the expected collective behaviors. We find that the polarity separation of BMRs increases over their normalized lifetime, supporting the assumption of a rising flux tube from the CZ. Moreover, we observe an increasing trend of the tilt with the flux of the BMR, suggesting that rising flux tubes associated with lower flux regions are primarily influenced by drag force and Coriolis force, while in higher flux regions, magnetic buoyancy dominates. Furthermore, we observe Joy’s law dependence for emerging BMRs from their first detection, indicating that at least a portion of the tilt observed in BMRs can be attributed to the Coriolis force. Notably, lower flux regions exhibit a higher amount of fluctuations associated with their tilt measurement compared to stronger flux regions, suggesting that lower flux regions are more susceptible to turbulent convection.
A Narrow Uniform Core with a Wide Structured Wing: Modeling the TeV and Multiwavelength Afterglows of GRB 221009A
Authors: Zheng Jian-He , Wang Xiang-Yu , Liu Ruo-Yu , Zhang Bing 
Published: April 2024

Abstract
The TeV afterglow of the BOAT GRB 221009A was interpreted as arising from a narrow jet, while the radio-to-X-ray afterglows were interpreted as arising from a wide structured jet. However, there is no model explaining the TeV and lower-energy multiwavelength afterglows simultaneously. We here investigate a two-component jet model, including a narrow uniform core with a wide structured wing, to explain both the multiwavelength afterglows that last up to 100 days. We find that to explain the early TeV afterglow with the inverse-Compton process, we need a circumburst density higher than ≳0.1 cm−3, while the radio afterglow and the H.E.S.S. upper limit combine to constrain the density to be lower at larger radii. Thus, a decreasing density profile with radius is favored. Considering that the rising TeV light curve during the afterglow onset favors a constant-density medium, we invoke a stratified density profile, including a constant-density profile at small radii and a wind density profile at large radii. We find that the two-component jet model with such a stratified density profile can explain the TeV, X-ray, and optical afterglows of GRB 221009A, although the radio fluxes exceed the observed ones by a factor of 2 at later epochs. The discrepancy in the radio afterglow could be resolved by invoking some nonstandard assumption about the microphysics of afterglow shocks. The total kinetic energy of the two components in our model is ≲1052 erg, significantly smaller than that in the single structured jet models.
Determining Cosmological-model-independent H
0 with Gravitationally Lensed Supernova Refsdal
Authors: Li Xiaolei , Liao Kai 
Published: April 2024

Abstract
The reappearance of supernova Refsdal with detailed modeling of the lens cluster allows us to measure the time-delay distance, which serves as a powerful tool to determine the Hubble constant (H
0). We give a cosmological-model-independent method to estimate H
0 through Gaussian process regression, using time-delay measurements from this lensed supernova in combination with supernova data from the Pantheon+ sample. Using eight mass models for the lens cluster, we infer

H

0

=

64.2

−
4.3

+
4.4

km

s

−
1

Mpc

−
1

, and using two cluster models most consistent with the observations, we infer

H

0

=

66.3

−
3.6

+
3.8

km

s

−
1

Mpc

−
1

. Our estimates of the value of H
0 are in 1σ agreement with the results assuming a flat ΛCDM model and the uncertainties are comparable. Our constraint results on H
0 from the eight lens models and the two lens models indicate 2σ and 1.8σ tensions with that estimated by Supernova H0 for the Equation of State, respectively. However, our median values of H
0 from the two sets of lens models show good consistency with H
0 inferred from Planck cosmic microwave background observations assuming a ΛCDM model within 1σ. We also find that our results for H
0 indicate 2σ deviations and 1.7σ deviations from the constraint results of H
0 using six time-delay quasars by H0LiCOW with the same analysis method.
A rare clinical case of extra-gastrointestinal stromal pancreatic tumor
Authors: Shabunin Alexey , Bagatelia Zurab , Tavobilov Mikhail , Dolidze David , Andreytsev Igor , Sheviakova Tatiana , Ivanova Nataliya , Foshina Anna , Chibukhchyan Zarui , Covantsev Serghei 
Published: April 2024

Extra-gastrointestinal stromal tumors arising from the pancreas are extremely rare. To date, just over 30 cases have been described in the world literature. A clinical observation of a 67-year-old patient with dull epigastric pain and a large cystic solid neoplasm instrumentally identified as an extra-gastrointestinal stromal tumor of the head of the pancreas is presented. The volume of surgical intervention consisted of pancreatogastroduodenectomy and right-sided hemicolectomy, since tumor invasion into the transverse mesocolon was detected intraoperatively. The final diagnosis of extra-gastrointestinal stromal sarcoma of the head of the pancreas with invasion into the mesocolon pT4N0M0, stage IIIb was made on the basis of histopathology and immunohistochemistry results.
Extra-gastrointestinal stromal pancreatic tumors require careful differential diagnosis with other large abdominal masses. Timely diagnosis and use of modern treatment algorithms make it possible to avoid further disease progression.
Complications due to ultrasound transthoracic cutting biopsy of peripheral pulmonary lesions and lesions in the chest wall and mediastinum
Authors: Argirov Dimcho , Yavorov Boyko , Aleksiev Vladimir , Chapkunov Anastas , Shterev Filip , Kartev Stanislav , Uchikov Petar , Vazhev Zaprin 
Published: April 2024

Introduction: Evaluation of patients with peripheral lung lesions and lesions of the chest wall and mediastinum is challenging. The nature of the lesion identified by imaging studies can be determined by histological evaluation of biopsies. An important place in this direction is the ever-increasing popularity among thoracic surgeons of the transthoracic biopsy with a cutting needle under ultrasound control (US-TTCNB).
Aim: This article aims to outline potential complications that may arise from transthoracic incisional biopsy performed under ultrasound guidance, along with a percentage reduction algorithm and treatment approaches.
Materials and methods: The present study is based on 264 patients with CT-detected peripheral lesions of the lung, chest wall, and the mediastinum performed in the Department of Thoracic Surgery of Kaspela University Hospital in Plovdiv over a period of 2 years (January 2020 – December 2021).
Results: Complications were found in 11 (4.17%) patients.
Conclusion: Our established biopsy technique achieves a sufficient amount of biopsy material with a low rate of post-biopsy complications.