bluuebunny/crossref_metadata_2025_split huggingface dataset:
Síndrome hipotónico como manifestación de enfermedad ultrarara causada por variante nueva y de novo en el gen PLA2G6
Authors: Morán Fernández Jenny Adriana , Moreno Giraldo Lina Johanna 
Published: December 2024

Introducción: La hipotonía congénita, afección rara que engloba trastornos neuromusculares diversos, puede tener origen genético, como la distrofia neuroaxonal infantil (INAD), trastorno neurodegenerativo ultrararo de prevalencia desconocida. Objetivo: Utilizar técnicas genómicas para diagnóstico de precisión de enfermedades neuromusculares con baja prevalencia. Métodos: Reporte de caso de lactante, sin antecedentes familiares de enfermedades genéticas, embarazo normal, hipotonía al nacimiento, retroceso en neurodesarrollo, nistagmus, estrabismo y atrofia cerebelosa. Ante sospecha de enfermedad de herencia autosómica recesiva vs de novo se solicitó estudio genético secuenciación mediante NGS (Secuenciación de Nueva Generación) + CNV (Variantes Número de Copias) para genes relacionados con hipotonía congénita (1,621 genes). Resultados: Se identificaron 2 variantes heterocigotas (doble heterocigoto–heterocigoto compuesto para el gen PLA2G6), la primera variante clasificación probablemente patogénica, duplicación de 5 nucleobases entre las posiciones 1,914 del ADNc, en exón 14 del gen. La segunda variante clasificación patogénica, cambio de una guanina por una adenina en posición 2,081 del ADNc, en exón 15 del gen. Variantes en este gen se asocian con 3 condiciones médicas de herencia autosómica recesiva: Distrofia neuroaxonal infantil 1, Neurodegeneración con acumulación de hierro cerebral 2B, Enfermedad de Parkinson 14. Discusión y Conslusión: La hipotonía congénita, vinculada a trastornos como la INAD, con manifestaciones antes de los 3 años de edad con sintomatología neurológica, mortalidad en la primera década y múltiples complicaciones. Las tecnologías genómicas, incluyendo fenotipado reverso, son fundamentales para entender su base genética, heterogeneidad fenotípica, guiar a un tratamiento dirigido, pronóstico, seguimiento, consejería genética y riesgo de heredabilidad, acercándonos a la medicina anticipatoria, preventiva y de precisión especialmente en condiciones ultrararas.
A Case Study of Gas Impacted by Black-hole Jets with the JWST: Outflows, Bow Shocks, and High Excitation of the Gas in the Galaxy IC 5063
Authors: Dasyra Kalliopi M. , Paraschos Georgios F. , Combes Francoise , Patapis Polychronis , Helou George , Papachristou Michalis , Fernandez-Ontiveros Juan-Antonio , Bisbas Thomas G. , Spinoglio Luigi , Armus Lee , Malkan Matthew 
Published: December 2024

Abstract
We present James Webb Space Telescope MIRI data of the inner ∼3 × 2 kpc2 of the galaxy IC 5063, in which the jets of a supermassive black hole interact with the gaseous disk they are crossing. Jet-driven outflows were known to be initiated along or near the jet path and to modify the stability of molecular clouds, possibly altering their star formation properties. The MIRI data, of unprecedented resolution and sensitivity in the infrared, now reveal that there are more than 10 discrete regions with outflows, nearly doubling the number of such known regions. Outflows exist near the radio lobes, at the nucleus, in a biconical structure perpendicular to the jet, and in a bubble moving against the disk. In some of them, velocities above escape velocity are observed. Stratification is also observed, with higher ionization or excitation gas attaining higher velocities. More outflows and bow shocks, found further away from the nucleus than the radio lobes, in regions without significant radio emission, reveal the existence of past or weak radio jets that interacted with the interstellar medium. The coincidence of the bow shocks with the optical extended emission line region (EELR) suggests that the jets also contributed to the gas ionization. Maps of the H2 gas excitation temperature, T
ex, indicate that the molecular gas is most excited in regions with radio emission. There, T
ex is >100 K higher than in the EELR interior. We argue that a combination of jet-related shocks and cosmic rays is likely responsible for this excess molecular gas excitation.
Weighing Single-lined Spectroscopic Binaries Using Tidal Effects on Radial Velocities: The Case of V723 Monocerotis
Authors: Tomoyoshi Mio , Masuda Kento , Hirano Teruyuki , Kasagi Yui , Kawahara Hajime , Kotani Takayuki , Kudo Tomoyuki , Tamura Motohide , Vievard Sébastien 
Published: December 2024

Abstract
In single-lined spectroscopic binaries (SB1s) where flux variations due to tidal deformation of the primary star (ellipsoidal variations, EVs) are detected, the binary mass can be determined by combining EVs with the primary's radial velocity (RV) variations from orbital motion and information about the primary’s radius. This method has been used for mass estimation in close binaries including X-ray systems, but it has been pointed out that contaminating light from sources other than the primary star could introduce systematic errors in the mass and inclination estimates. Here, we focus on the apparent RV variations caused by asymmetric distortion of the absorption lines of the tidally deformed primary star (tidal RV). Because this signal contains information equivalent to that from photometric EVs, it enables mass estimation of the binary system using only the primary star’s absorption lines from high-resolution spectroscopic data, providing a potentially more robust approach against contaminating light. We apply the method to the binary system V723 Monocerotis, where both photometric EV and tidal RV signals are detected and successfully determine the component masses using only the primary star’s RVs and projected rotational velocity, without relying on absolute flux measurements or stellar evolutionary models. The masses derived from the tidal RV model shows a reasonable agreement with those obtained from EVs after carefully modeling the flux contamination from the secondary. This result demonstrates that tidal RVs provide a useful alternative means for mass estimation in SB1s.
Center-to-limb Variations in Solar Plage Using IRIS Observations
Authors: Kayshap Pradeep , Young Peter R. 
Published: December 2024

Abstract
The center-to-limb variations (CLV) of transition region line Gaussian fit parameters in solar plage are reported for the first time. The Si iv 1402.77 Å line observed by the Interface Region Imaging Spectrograph is used. The spectral intensity increases linearly from the disk center to the solar limb. Similarly, the nonthermal velocity also increases linearly from 23.6 (at the disk center) to 30.9 km s−1 (at the solar limb). On the other hand, the Doppler velocity decreases from 8.9 ± 1.0 at the disk center to 0.0 km s−1 at the limb. This CLV pattern in solar plages is consistent with the CLV pattern reported in the quiet Sun (QS). However, the average values of the parameters in the solar plage are significantly higher than in the QS. The intensity and nonthermal velocity increase linearly with the magnetic field at the disk center, while the Doppler velocity does not depend on the magnetic field. Due to the line-of-sight effect, the plasma column depth increases toward the solar limb, which leads to a linear increase in the spectral intensity. Further, the increasing plasma column depth toward the solar limb adds more and more unresolved motions, and as a result, the nonthermal velocity increases from the disk center to the solar limb. In the solar plages, the higher plasma density due to the strong magnetic field leads to higher intensity and nonthermal velocity compared to the QS and coronal hole.
A Novel Orbit Parameterization in Spherical Coordinates
Authors: Napier Kevin J. , Holman Matthew J. 
Published: December 2024

Abstract
We present a novel orbit parameterization in spherical coordinates. This parameterization enables the mixing of varying and invariant orbital parameters, and clarifies the physics of the orbit. It also simplifies the process of placing synthetic populations at exactly specified locations on the sky, which is particularly useful for survey design and simulation studies.
Clipped Topography-Guided Treatments: A Different Approach to Custom Corrections
Authors: Krämer Manja , Charonis Anastasios , Arba-Mosquera Samuel 
Published: December 2024

Purpose
To present a new approach to customized treatments that inherently saves tissue by design, especially for pathological corneas.

Methods
From the elevation of the anterior cornea and the refractive error of the eye, the target cornea can be calculated and the difference between actual and target cornea corresponds to the tissue to be removed. In this approach, it is further possible to preset the ablation depth at one (Model 1) or two (Models 2 and 3) particular locations. In all three models, the target cornea floats in z-direction, until the depth is reached at one of these defined locations. In Model 2, the depth at the second location is reached by modulating the asphericity, whereas in Model 3, asphericity is maintained but average curvature is modulated to achieve the desired depth at the second location. After floating in z-direction, and modulation, locations with a negative ablation value are set to zero (primary clipping). Additionally, locations exceeding a preset maximum ablation depth are set to a predefined depth (secondary clipping).

Results
Simulated cases based on patient diagnosis were used to better explain and illustrate the technique.

Conclusions
With this approach, free-form ablation zones are generated, providing for a tissue-saving correction of refractive error and partial correction of higher order aberrations, the overall corneal shape will be recentered, and the corneal curvature gradient is reduced.

[
J Refract Surg
. 2024;40(12):e1003–e1014.]
Clinical Comparison of Decentration and Tilt Effects in Iris-Claw and Trans-scleral Plug Lenses: Wavefront Analysis With a Pyramidal Sensor Aberrometer
Authors: de Angelis Lorenzo , Romano Vito , Barbera Giuseppe Ruben , Galasso Mario , Aliò Jorge L. , Giansanti Fabrizio , Barca Francesco 
Published: December 2024

Purpose
To compare the aberrometric profile of the Artisan Aphakia lens (Opthec BV) and transscleral plug FIL-SSF lens (Soleko) and to assess the impact of tilt and decentration on their optical performance.

Methods
This retrospective observational study was conducted at Azienda Ospedaliera Universitaria Careggi, Florence, Italy, with a consecutive cohort of aphakic eyes undergoing secondary lens implantation with an Artisan or FIL-SSF lens. Wavefront analysis was performed using a pyramidal wavefront-based aberrometer (Osiris-T; CSO). Tilt and decentration were calculated using anterior segment optical coherence tomography (MS-39; CSO).

Results

The study included 47 eyes from 45 patients: 24 eyes in the FIL-SSF group and 23 eyes in the Artisan group. Decentration was 0.39 ± 0.14 mm in the FIL-SSF group and 0.51 ± 0.16 mm in the Artisan group (
P
= .02). The mean tilt value was 6.6 ± 2.35 degrees in the FIL-SSF group and 5.9 ± 1.86 degrees in the Artisan group (
P
= .13). Internal higher order aberrations (HOAs) were 0.23 ± 0.07 μm in the FIL-SSF group and 0.29 ± 0.13 μm in the Artisan group (
P
= .02). The point spread function (PSF) Strehl ratio was 0.12 ± 0.05 in the FIL-SSF group and 0.10 ± 0.04 (
P
= .11) in the Artisan group. The PSF Strehl ratio without lower order aberration (PSFw2) was 0.28 ± 0.12 in the FIL-SSF group and 0.23 ± 0.09 in the Artisan group (
P
= .01).

Conclusions
The Artisan and FIL-SSF lenses provide comparable optical performance in terms of the PSF Strehl ratio. However, the Artisan lens appears to be more susceptible to decentration, which may result in increased higher order aberrations and a consequently lower PSFw2 Strehl ratio.

[
J Refract Surg
. 2024;40(12):e926–e933.]
Reduplication and the IsiZulu novel: A morpho-stylistic critique
Authors: Dlamini Sizwe Z. 
Published: December 2024

While reduplication qualifies as a pure linguistic entity, little has been done to investigate this aspect in the context of literary works. This article thus seeks to attempt to close this gap by exploring a linguistic stylistic analysis of reduplication with reference to the isiZulu novel. The main aim of this is to blend and harmonise literary criticism and linguistics by discussing both the form (linguistic description) and function (literary effects) of reduplication, observing four isiZulu novels as primary data. This suggests that the study uses textual analysis as a qualitative research technique. Linguistic stylistics is proposed as the theoretical framework to validate and ground the findings. This theory is seen as suitable as it considers both form and function of language. Reduplication with reference to the selected novels is discussed through the following linguistic sets: complete reduplication and incomplete reduplication. Within these descriptive sets, the literary findings reveal that reduplication is used to emphasise the recurring nature of actions as reflected in the novels. This plays a significant role in the creation of vivid effects when the text is read.Contribution: This study is significant because it provides a different way of examining style in the African indigenous languages’ novel genre. This genre has been approached from different perspectives, but there seem to be limited perspectives that opt for approaches that lean on descriptive linguistics. The study is thus believed to be valuable to the study of African indigenous languages of South Africa, as it demonstrates that a linguistic approach to literature can aid analysis and understanding of the novel genre. Using reduplication as a reference point, the study seeks to demonstrate that linguistics and literary criticism can co-exist and operate in harmony.
Alexandrov’s estimate revisited
Authors: Griffin Charles J. K. , Idu Kennedy Obinna , Jerrard Robert L. 
Published: December 2024

Abstract
Alexandrov’s estimate states that if

$\Omega $

is a bounded open convex domain in

$\mathbb {R}^n$

and

$u:\bar \Omega \to \mathbb {R}$

is a convex solution of the Monge-Ampère equation

$\det D^2 u = f$

that vanishes on

$\partial \Omega $

, then

$$\begin{align*}|u(x) - u(y)| \le \omega(|x-y|)(\int_\Omega f)^{1/n} \qquad \text{for }\omega(\delta) = C_n\,\text{diam}(\Omega)^{\frac{n-1}n} \delta^{1/n}. \end{align*}$$

We establish a variety of improvements of this, depending on the geometry of

$\partial \Omega $

. For example, we show that if the curvature is bounded away from

$0$

, then the estimate remains valid if

$\omega (\delta )$

is replaced by

$C_\Omega \delta ^{\frac 12 + \frac 1{2n}}$

. We determine the sharp constant

$C_\Omega $

when

$n=2$

, and when

$n\ge 3$

and

$\partial \Omega $

is

$C^2$

, we determine the sharp asymptotics of the optimal modulus of continuity

$\omega _\Omega (\delta )$

as

$\delta \to 0$

. For arbitrary convex domains, we characterize the scaling of the optimal modulus

$\omega _\Omega $

. Our results imply in particular that unless

$\partial \Omega $

has a flat spot,

$\omega _\Omega (\delta ) = o(\delta ^{1/n})$

as

$\delta \to 0$

, and under very mild nondegeneracy conditions, they yield the improved Hölder estimate,

$\omega _\Omega (\delta ) \le C \delta ^\alpha $

for some

$\alpha>1/n$

.
Dimensions of a class of nonautonomous carpets and measures on $\R^{2}$
Authors: Gu Yifei , Hou Chuanyan , Miao Jun Jie 
Published: December 2024

For each integer

k>0

, let

n_{k}

and

m_{k}

be integers such that

n_{k}\geq 2,

m_{k}\geq 2

, and let

\mathcal{D}_{k}

be a subset of

\{0,\dots,n_{k}-1\}\times \{0,\dots,m_{k}-1\}

. For each

w=(i,j)\in \mathcal{D}_{k}

, we define an affine transformation on

\R^{2}

by

\Phi_{w}(x)=T_{k}(x+w), \qquad w\in\mathcal{D}_{k},

where

T_{k}=\operatorname{diag}(n_{k}^{-1},m_{k}^{-1})

. The non-empty compact set

E=\bigcap_{k=1}^{\infty}\bigcup_{(w_1w_2\ldots w_k)\in \prod_{i=1}^k\mathcal{D}_i}\Phi_{w_1}\circ \Phi_{w_2}\circ \cdots\circ \Phi_{w_k}

is called a
nonautonomous carpet
.In the paper, we provide the lower, packing, box-counting and Assouad dimensions of the nonautonomous carpets

E

. We also explore the dimension properties of nonautonomous measures

\mu

supported on

E

, and we provide Hausdorff, packing and entropy dimension formulas of

\mu

.
Analisis Politik Birokrasi Indonesia dalam Kebijakan Luar Negeri Terkait Perlindungan Anak Buah Kapal (ABK) di Kapal Asing
Authors: Rizaldi Meicel Anandia 
Published: December 2024

Kebijakan luar negeri Indonesia merupakan keputusan yang diambil dari aksi tawar menawar para aktor birokrasi yang terlibat. Aktor birokrasi yang terlibat dan muncul beragam tergantung kepada kepentingannya dalam suatu isu tertentu. Kemunculan beberapa aktor dalam isu perlindungan ABK Indonesia yang bekerja di kapal asing, menunjukkan bahwa adanya kepentingan mereka dalam isu tersebut. Perlindungan ABK yang mengalami kekerasan fisik, jam istirahat, gaji yang kurang sesuai ataupun hak pekerja yang terpenuhi masih terus terjadi. Di sisi lain, ILO mempunyai konvensi 188 tahun 2007 tentang perlindungan ABK, yang bisa menjadi alat Indonesia melindungi ABK yang bekerja di luar negeri dengan meratifikasi konvensi tersebut. Maka dari itu pertanyaan penelitiannya yaitu mengapa Indonesia tidak juga meratifikasi konvensi ILO 188 tahun 2007? Pertanyaan ini akan dijawab dengan satu variabel dari teori Model Politik Birokratik dari Graham Allison. Metode penelitian yang digunakan yaitu kualitatif dengan sumber data primer dan sekunder. Pada akhirnya Indonesia memilih untuk tidak meratifikasi Konvensi ILO no 188 tahun 2007 yang disebabkan tumpang tindih kebijakan dari aktor birokrasi yang terlibat.
Can Brand Trust Mediate the Influence of Customer Trust Effect Variables on Customer Satisfaction
Authors: Idrus Salim Al , Sari Efti Novita , Putra Johni Eka , Sari Mila Diana , Kalalo Rieneke Ryke , Utami Eva Yuniarti 
Published: December 2024

Context: This study deals with three main themes, namely Customer Trust, Customer Satisfaction, and Brand Trust which have an influence on each other. In this study, the Customer Trust variable functions as an independent variable, the Customer Satisfaction variable functions as a dependent variable, and the Brand Trust variable functions as a mediating variable.

Objective: This study aims to analyze the direct influence of the Customer Trust variable on the Customer Satisfaction variable and the influence of the Customer Trust variable on the Customer Satisfaction variable mediated by the Brand Trust variable.

Method: This research is a quantitative study with an explanatory approach. The data used in this article are primary data that researchers obtain from various credible sources, namely 450 Shopee Customers on twin dates in the academic environment including students and lecturers. The data that researchers distribute contains five statement items, namely strongly agree statements, agree statements, so-so statements, disagree statements, and strongly disagree statements. The data collected by the researcher was analyzed using the smart PLS 4.0 analysis tool

Results: The result in this article can be concluded that if the first hypothesis and the second hypothesis that the researcher argued in the research methodology section, namely the Customer Trust variable, Customers can have a positive relationship direction and a significant influence on the Customer Satisfaction variable and the Brand Trust variable can moderate the influence of the Customer Trust variable on Customer Satisfaction. For the first hypothesis, this is represented in the first row of the Path Coefficient above, namely the P-Values of the Customer Trust variable have a positive relationship direction and are below the significance level of 0.05, namely 0.015. This is because the more Customer Trust a product is based on a good track record and image of a product, the happier Customers can shop which has an impact on Customer satisfaction. In the next row, the Brand Trust variable can also mediate the influence of the Customer Trust variable on Customer Satisfaction due to the same thing, namely the P-Values which are positive and below the significance level of 0.05, namely 0.000. From this, it can be concluded that the influence of the Customer Trust variable can be more significant if it goes through the Brand Trust variable first. Thus, the first and second hypotheses in this article can be accepted

Contribution: The researcher hopes that the results of this study can be useful for Shopee e-commerce users and others in developing their businesses, reading the market, increasing customer trust, and increasing customer satisfaction.
The Role of the International Court in Resolvingthe Genocide in Palestine
Authors: Irawan Bambang , Perceka Andhika Lungguh , Lubis Arief Fahmi , Miharja Marjan , Wibisono Okki Navarone , Wantu Hasyim Mahmud 
Published: December 2024

Context: This research is related to the function of the International Court of Justice in addressing existing genocide, the Palestinian-Israeli conflict, and the impact of the conflict between Israel and Palestine.

Objective: The objects of this study are related to the Zionist Israeli genocide against Palestine, the International Court of Justice ruling in January 2024, the history of the Israeli-Palestinian dispute, and the impacts resulting from the dispute.

Method: This research is a qualitative research with a descriptive approach that will describe things related to the causes of conflict, genocide, arguments of each country, the impact of conflict, and the role of international justice in overcoming this problem. The data used in this article is secondary data that researchers obtain from various credible scientific sources such as books, scientific journals, scientific magazines, and websites. The data obtained by researchers are analyzed and presented with the stages of data collection, data selection, data reduction, and drawing conclusion.

Results: 1. The genocide against Palestine is based on three causes, namely from an economic perspective because Palestine is a sexy city and is the main destination for international tourists and world travelers in the history of tourism. From a historical and political perspective, the Zionists believe that Palestine is a strategic area and has a strong theological basis. 2. The impact of this genocide occurs in every sector, both economic, health, social, psychological, political, and so on, which is very detrimental to the Palestinian people. 3. The International Court of Justice/International Court has an important role in overcoming this problem. However, what happened in the ICJ decision in January 2024 was not firm enough because it did not immediately order Israel to implement a ceasefire.

Contribution: The researcher greatly hopes that the criticism and ideas presented comprehensively in this article can be a reference for the International Court of Justice in making future decisions. The researcher also hopes that this article can be one of the causes of overcoming the Zionist Israeli genocide against Palestine.