bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis
Authors: Huybrechts Yentl , Appelman-Dijkstra Natasha M , Steenackers Ellen , Van Beylen Wouter , Mortier Geert , Hendrickx Gretl , Van Hul Wim 
Published: January 2024

Abstract

Context
Osteopathia striata with cranial sclerosis (OSCS) is a rare bone disorder with X-linked dominant inheritance, characterized by a generalized hyperostosis in the skull and long bones and typical metaphyseal striations in the long bones. So far, loss-of-function variants in AMER1 (also known as WTX or FAM123B), encoding the APC membrane recruitment protein 1 (AMER1), have been described as the only molecular cause for OSCS. AMER1 promotes the degradation of β-catenin via AXIN stabilization, acting as a negative regulator of the WNT/β-catenin signaling pathway, a central pathway in bone formation.

Objective
In this study, we describe a Dutch adult woman with an OSCS-like phenotype, namely, generalized high bone mass and characteristic metaphyseal striations, but no genetic variant affecting AMER1.

Results
Whole exome sequencing led to the identification of a mosaic missense variant (c.876A &gt; C; p.Lys292Asn) in CTNNB1, coding for β-catenin. The variant disrupts an amino acid known to be crucial for interaction with AXIN, a key factor in the β-catenin destruction complex. Western blotting experiments demonstrate that the p.Lys292Asn variant does not significantly affect the β-catenin phosphorylation status, and hence stability in the cytoplasm. Additionally, luciferase reporter assays were performed to investigate the effect of p.Lys292Asn β-catenin on canonical WNT signaling. These studies indicate an average 70-fold increase in canonical WNT signaling activity by p.Lys292Asn β-catenin.

Conclusion
In conclusion, this study indicates that somatic variants in the CTNNB1 gene could explain the pathogenesis of unsolved cases of osteopathia striata.
Stochastic Cyclic Inventory Routing with Supply Uncertainty: A Case in Green-Hydrogen Logistics
Authors: Hasturk Umur , Schrotenboer Albert H. , Ursavas Evrim , Roodbergen Kees Jan 
Published: January 2024

Hydrogen can be produced from water, using electricity. The hydrogen can subsequently be kept in inventory in large quantities, unlike the electricity itself. This enables solar and wind energy generation to occur asynchronously from its usage. For this reason, hydrogen is expected to be a key ingredient for reaching a climate-neutral economy. However, the logistics for hydrogen are complex. Inventory policies must be determined for multiple locations in the network, and transportation of hydrogen from the production location to customers must be scheduled. At the same time, production patterns of hydrogen are intermittent, which affects the possibilities to realize the planned transportation and inventory levels. To provide policies for efficient transportation and storage of hydrogen, this paper proposes a parameterized cost function approximation approach to the stochastic cyclic inventory routing problem. Firstly, our approach includes a parameterized mixed integer programming (MIP) model which yields fixed and repetitive schedules for vehicle transportation of hydrogen. Secondly, buying and selling decisions in case of underproduction or overproduction are optimized further via a Markov decision process (MDP) model, taking into account the uncertainties in production and demand quantities. To jointly optimize the parameterized MIP and the MDP model, our approach includes an algorithm that searches the parameter space by iteratively solving the MIP and MDP models. We conduct computational experiments to validate our model in various problem settings and show that it provides near-optimal solutions. Moreover, we test our approach on an expert-reviewed case study at two hydrogen production locations in the Netherlands. We offer insights for the stakeholders in the region and analyze the impact of various problem elements in these case studies. Funding: This project received funding from the Fuel Cells and Hydrogen 2 Joint Undertaking (now Clean Hydrogen Partnership) under [Grant Agreement 875090]. The Joint Undertaking receives support from the European Union’s Horizon 2020 research and innovation programme, Hydrogen Europe and Hydrogen Europe Research. A. H. Schrotenboer received support from the Dutch Science Foundation (Nederlandse Organisatie voor Wetenschappelijk Onderzoek; NWO) through [Grant VI.Veni.211E.043].
The Role of Implementing Supplier Relationship Strategies, Relationship with Customer, and Information Sharing on Company Performance
Authors: Afrilia Eka , Ratihsabella Inesa Nining 
Published: January 2024

Purpose-In this study, the effects of information sharing, customer relations, and supplier relationship strategies on company performance are investigated.
Design/Methodology/Approach-The study's sample consists of workers of Bank Rakyak Indonesia, which is situated in Yogyakarta's Special Region. 60 workers served as responders in the study, providing a sample size. This research data is acquired using the Smart PLS analysis program in order to get the intended outcomes.
Findings-Empirical results indicate that supplier relationship strategies and information sharing positively impact company performance. Conversely, relationship with consumers who have a negative impact on company performance.
Research limitations/implications- This study's scope is restricted to operational factors that impact company performance, such as customer relationships, supplier relationship strategies, and information sharing. The study's findings can be utilized by businesses as a foundation for assessment to optimize variables that may impact their performance.
Originality/value- It can be argued that there is still a dearth of research on the performance of banking institutions operating in the Special Region of Yogyakarta. No prior studies have addressed the performance of these institutions with regard to operational factors like supplier relationship strategies, customer relationships, and information sharing.
DESFLORESTAMENTO METROPOLITANO E IMPACTOS AMBIENTAIS DECORRENTES
Authors: Almeida Josimar Ribeiro de , Aguiar Laís Alencar de , Barbosa Oscar Rocha , Matta Patrícia dos Santos , Gurova Tetyana , Cunha Tatiana Santos da 
Published: January 2024

A expansão urbana na região de Petrópolis é decorrente de intenso desmatamento para moradia e outras atividades antrópicas. Desflorestamento é a causa principal de desequilíbrios ecológicos, resultando em: inundações, diminuição da porosidade do solo e desertificação. Através da técnica de AIA de análise semiqualitativa estudou-se possíveis prejuízos e benefícios da expansão urbana na localidade, se as mudanças eram passíveis ou não de ocorrência e seu nível de impactação. Observou-se que a probabilidade de ocorrências de prejuízos era muito maior que a de benefícios. O resultado corrobora a literatura, sendo assim, foi visto que a vegetação possui papel importante no controle hídrico da localidade, e também na integridade física e química do solo. A probabilidade de consequências catastróficas, por conta do desmatamento, é extremamente alta, e mesmo as consequências de médio porte possuem capacidade de impactos ambientais que tendem a ser irreversíveis. O desmatamento intensifica as consequências das grandes precipitações frequentes no verão do Estado do Rio de Janeiro, logo, quanto maior o desmatamento, maior a probabilidade de eventos recorrentes e intensos resultantes das grandes precipitações. Logo, é necessário um controle da expansão urbana na região para diminuir o impacto ambiental hídrico na região.
Selection and cultivation of seaweed Kappaphycus alvarezii using a long line system (outdoor)
Authors: Satriani Gloria I. , Soelistyowati Dinar Tri , Alimuddin Alimuddin , Arfah Harton , Effendi Irzal 
Published: January 2024

In outdoor cultivation at Amal Beach, three seeding mass selections were reared for 30 days for each cycle. Each variety had a different DGR %/day (Daily Growth Rate %/day) value at the end of the growing season on G1-G2-G3 ranging from 3.62-5.90 %/day, which were still categorized as good, and G3 var.Lampung had the highest DGR value. Carrageenan yield values in this study, G1 to G3, ranged from 23.16% to 45.87%, where the G3 G2 G1 treatment. The best thallus samples (20% were selected for each generation) resulted in carrageenan yield sample population in each variety, where var.Lampung var.Tarakan var.Kupang. The biplot analysis shows that the DGR variable vector coincides with the IAA, Phosphate, Gibberellin, and Ammonia vectors. Ammonia stepwise regression analysis (sigα) affects DGR with an Ammonia coefficient value of 4.89; meaning that for each increase in the Ammonia value by one unit, the estimated mean value of DGR will increase by 4.89. Thus, the application of the mass based on the results of this study was able to increase the DGR value Kappaphycus alvarezii, which in turn produce the highest yield of carrageenan with K. alvarezii var.Lampung G3 was the best seed candidate to be developed at the seaweed cultivation site in Tarakan City.Keywords:AlgaePhytohormonesCarrageenanNitrogenViscosity
Model of nitrogen-phosphorus ratio and phytoplankton relationship in lake Laut Tawar, Indonesia
Authors: Adhar Saiful , Khalil Munawwar , Erlangga Erlangga , Muliani Muliani , Rusydi Rachmawati , Mainisa Mainisa , Imanullah Imanullah , Andika Yudho 
Published: January 2024

Phytoplankton blooms in the lake cause ecological, economic, health, energy, and aesthetic losses. It reduces water quality and biota diversity, creates toxins in the waters, and changes the structures and functions of the ecosystem. The essential nutrients for the growth of phytoplankton are nitrogen and phosphorus. Controlling phytoplankton growth can be managed by controlling the limiting nutrient input. This study aims to identify the limiting nutrient, analyze variations in TN:TP ratio spatially and temporally, and model TN:TP ratio and chlorophyll-a relationship. This study used secondary data from previous studies, namely TN, TP, and chlorophyll-a observed monthly in seven stations purposively during a year. Rainfall data was also obtained from the previous study. Limiting nutrients were determined by Redfield theory, and data were analyzed by Spearman correlation, One-way ANOVA, Kruskal-Wallis, and regression analysis. The results showed phosphorus was a limiting nutrient for phytoplankton growth in Lake Laut Tawar. TN:TP ratio and chlorophyll-a did not vary spatially, indicating the lake surface waters were evenly mixed. The parameters varied temporally, expressing the influence of hydroclimatological factors, especially rainfall. Rainfall increases nutrient input to the lake, but only rain below 200 mm/month causes an increase in the concentration of nutrients in the lake. The rainfall above 200 mm/month increases lake water volume significantly, thereby reducing nutrient concentrations. TN:TP ratio and chlorophyll-a related negatively and formed a non-linear relationship with an empirical model Chlorophyll-a = 2770.285 (TN/TP)-1.871. Eutrophication of Lake Laut Tawar should be anticipated by controlling the anthropogenic phosphorus input.Keywords:AnthropogenicChlorophyll-aEutrophication,Limiting nutrientRainfall
SRS conversion efficiency assessment of a single cell Raman gas mixture for DIAL ozone lidar
Authors: Raman M. Roja , Chen Wei-Nai 
Published: January 2024

A single Raman cell configuration useful for DIAL ozone lidar is designed and optimized. The conversion efficiency and flexibility of using a single Raman cell filled with a mixture of high pressure Raman active gases hydrogen (H2) and methane (CH4) have been examined and reported. The stimulated Raman scattering (SRS) conversion efficiency of Raman active gases with different total cell pressures and the volume mixing ratio excited with a focused, frequency quadrupled Nd:YAG laser with a maximum pulse energy of 25 mJ and a pulse duration of 10 ns at 100 Hz repetition rate are examined in detail. The gas combination of H2:CH4 emits a coaxial beam of two wavelengths, 288.4 nm (CH4) and 299.1 nm (H2), with a maximum total conversion efficiency of about 45%. The optimum volume mixing ratio for generating the required wavelength pair with almost equal energies is found to be 2:1 (H2:CH4) at a total cell pressure of 18 bar. The contribution of cascade Raman scattering (CRS) and four-wave mixing (FWM) to the higher order Stokes lines is examined. The laser attenuation due to soot formation under various mixing ratios in the cell is also presented.
Developing a text-message library for tobacco prevention among adolescents: A qualitative study
Authors: Khalil Georges Elias , McLean David , Ramirez Erica , Mihaj Paris Piere , Zhao Bairu , Dhar Biswadeep , Khan Meerah 
Published: January 2024

Introduction
Communicating the risks associated with nicotine and tobacco use to adolescents can be challenging, especially with the current tobacco market’s attempt to capture the attention of youths. Text message interventions have emerged to address the need to improve tobacco risk communication. This article informs the design of a message library for tobacco risk communication that is based on the transtheoretical model and addresses the risk of multiple tobacco products.

Methods
We draw findings from this study from two phases. Phase 1 involved six remote focus group discussions (n = 25) and an in-depth interview, and Phase 2 involved online ideation sessions (n = 11) that led to the current version of the messages. We conducted the study within a larger project for the design and testing of a tobacco prevention program. With thematic analysis and the affinity mapping technique, two research team members identified repeated topics and relevant quotes to organize them into themes and subthemes.

Results
In Phase 1, thematic analysis revealed four major themes: 1) Adolescents’ gap in tobacco knowledge, 2) Social influence and popularity, 3) Attitude toward marketing, and 4) Text message framing preferences. During Phase 2, participants generated 1-to-7 iterations of the original messages. Votings and discussions resulted in a library of 306 messages under 7 sections, categorized based on the processes of change from the transtheoretical model.

Conclusion
The current study presents key insights crucial for developing and evaluating a library of tobacco prevention text messages that is scientifically valid and successfully resonates with today’s adolescents. Our future plan is to go beyond this initial message development and vet the message library by adolescents and expert reviewers in tobacco risk communication. Future research may consider developing messages that are tailored based on gender, ethnicity, and other factors that are predictive of tobacco use.
ACG Clinical Guideline: Alcohol-Associated Liver Disease
Authors: Jophlin Loretta L. , Singal Ashwani K. , Bataller Ramon , Wong Robert J. , Sauer Bryan G. , Terrault Norah A. , Shah Vijay H. 
Published: January 2024

ABSTRACTAlcohol-associated liver disease (ALD) is the most common cause of advanced hepatic disease and frequent indication for liver transplantation worldwide. With harmful alcohol use as the primary risk factor, increasing alcohol use over the past decade has resulted in rapid growth of the ALD-related healthcare burden. The spectrum of ALD ranges from early asymptomatic liver injury to advanced disease with decompensation and portal hypertension. Compared with those with other etiologies of liver disease, patients with ALD progress faster and more often present at an advanced stage. A unique phenotype of advanced disease is alcohol-associated hepatitis (AH) presenting with rapid onset or worsening of jaundice, and acute on chronic liver failure in severe forms conveying a 1-month mortality risk of 20%–50%. The model for end stage disease score is the most accurate score to stratify AH severity (>20 defined as severe disease). Corticosteroids are currently the only available therapeutic with proven efficacy for patients with severe AH, providing survival benefit at 1 month in 50%–60% of patients. Abstinence of alcohol use, a crucial determinant of long-term outcomes, is challenging to achieve in ALD patients with concurrent alcohol use disorder (AUD). As patients with ALD are rarely treated for AUD, strategies are needed to overcome barriers to AUD treatment in patients with ALD and to promote a multidisciplinary integrated care model with hepatology, addiction medicine providers, and social workers to comprehensively manage the dual pathologies of liver disease and of AUD. Liver transplantation, a definitive treatment option in patients with advanced cirrhosis, should be considered in selected patients with AH, who are unresponsive to medical therapy and have a low risk of relapse to posttransplant alcohol use. Level of evidence and strength of recommendations were evaluated using the Grading of Recommendations, Assessment, Development, and Evaluations system. This guideline was developed under the American College of Gastroenterology Practice Parameters Committee.
Uso de Descritores 3D e Intensidade na Detecção de Árvores em Ambiente Urbano por meio de Dados LiDAR
Authors: Alencar Cleber Junior , Galo Mauricio , Santos Renato César dos 
Published: January 2024

A detecção de vegetação por meio de dados LiDAR possui aplicações em diferentes áreas do conhecimento, sendo importante para o manejo e preservação florestal, planejamento urbano, detecção de objetos obstruídos pelas copas das árvores, dentre outras. Nesse sentido, este artigo tem o propósito de avaliar a aplicabilidade dos descritores geométricos 3D baseados em autovalores e da intensidade na detecção de pontos amostrados sobre árvores. No cálculo dos atributos geométricos, vizinhanças do tipo esférica e cilíndrica foram definidas para o cálculo dos descritores, visando avaliar sua influência nos resultados. Após análises visuais dos resultados, os descritores omnivariância, curvatura, planaridade e entropia dos autovalores, além da intensidade, foram utilizados como atributos para a classificação dos pontos com o algoritmo K-Médias. Na classificação os pontos foram separados em duas classes: pontos de vegetação e não vegetação, sendo os resultados da classificação avaliados quantitativamente, com base em dados de referência e no uso dos indicadores de completeza, nível de acerto e F-Score. A completeza obtida para os atributos omnivariância, entropia dos autovalores, planaridade e intensidade foram superiores a 90%, o que sugere uma boa confiabilidade por parte dos descritores selecionados na detecção de árvores. No entanto, os valores de nível de acerto, em torno de 62%, não foram tão altos devido ao grande número de falsos positivos, devido a confusão entre pontos de árvores e pontos de bordas de edificação e linhas de transmissão. Analisando os valores de F-Score, a classificação usando o atributo omnivariância calculado numa vizinhança esférica de raio igual a 1 m se destacou, resultando em F-Score superior a 80%.
KAJIAN TERHADAP CARA PENANGANAN OVER KAPASITAS PADA BEBERAPA LAPAS DI INDONESIA
Authors: RAHMADI TAUFIQ 
Published: January 2024

Pada Beberapa Negara berkembang seperti Indonesia masalah pembinaan dan pengamanan dalam menjalankan kehidupan berbangsa dan bernegara yang beradab sering terabaikan, bahkan sebuah idiologi dan pola pikir masyarakat yang mendasar sering tergantikan oleh kekuatan ekonomi dunia yang cenderung lebih berperan. Lembaga pemasyarakatan sebagai salah satu lembaga yang memiliki peran dalam system peradilan pidana mempunyai peran dalam menjaga dan membina Warga Binaan Pemasyarakatan (Narapidana) dan Tahanan.Pada masa sekarang ini isu yang sangat sulit teruraikan dan menjadi dasar daripada semua permasalahan di Lapas dan Rutan yaitu adalah adanya over kapasitas dimana pada Lapas dan Rutan hal ini menyebabkan timbulnya begitu banyak permasalahan yang terjadi.Over kapastitas merupakan suatu hal yang sangat kompleks dan apabila tidak cepat di selesaikan akan dapat menjadi sebuah bom waktu baik bagi Unit Pelaksana maupun bagi Negara, namun setiap permasalahan tentunya mempunyai jalan keluar. Hal inilah yang membuat penulis tertarik untuk membuat kajian mengenai cara penanganan overkapasitas pada beberapa Lapas di Indonesia.Penulis dalam melakukan tulisan ini menggunakan metode Library Research atau lebih di kenal dengan kajian kepustakaan. Library research sendiri adalah serangkaian kegiatan yang berkenaan dengan metode pengumpulan data pustaka dengan cara membaca dan mencatat serta mengolah bahan penelitiannya tanpa harus turun ke lapangan melainkan memanfaatkan literatur penelitian yang sudah ada untuk memperoleh data penelitiannya. Kata Kunci: Lembaga Pemasyarakatan, Over Kapasitas, Masalah akibat Over Kapasitas, Cara Penanggulangan Over Kapasitas
EVALUASI PROGRAM PEMBERIAN BANTUAN PENGEMBANGAN UNIT PENGOLAH PUPUK ORGANIK ( UPPO ) DARI KEMENTERIAN PERTANIAN DI KABUPATEN SIMALUNGUN SUMATERA UTARA
Authors: Priyono Moureen Veronica 
Published: January 2024

Tujuan penelitian ini adalah Untuk mengetahui penyaluran program bantuan pupuk di Unit Pengolah Pupuk Organik (UPPO) Dinas Pertanian Kabupaten Simalungun dan mengetahui faktor-faktor penghambat dan pendukung penyaluran hibah pupuk oleh Unit Pengolah Pupuk Organik (UPPO) Dinas Pertanian Kabupaten Simalungun Dinas Pertanian Kabupaten Simalungun dalam rangka produktivitas sawah dan kesejahteraan petani. Penelitian ini menggunakan Metode Deskriptif dengan pendekatan Kualitatif. Pengumpulan data dilakukan dengan cara wawancara, observasi, dan dokumentasi. Hasil penelitian ini menunjukkan Bahwa berdasarkan keempat indikator yang telah dijelaskan diatas maka dapat diketahui bahwa evaluasi Program Pemberian Bantuan Pengembangan Unit Pengolah Pupuk Organik (UPPO) dari Kementerian Pertanian Di Kabupaten Simalungun, Sumatera Utara. Sudah berjalan dengan baik, dengan hasil yang sesuai dengan tujuan dari program tersebut, hasil dari program UPPO petani sangat terbantu karena kualitas dan produktifitas yang meningkat, begitu pula dengan biaya produksi yang sedikit, tetapi dalam pelaksanaan penyaluran bantuan program UPPO masih ditemukannya oknum-oknum yang tidak bertanggung jawab, yang meminta persenan dari jumlah bantuan yang di salurkan kepada para petani di Kabupaten Simalungun. Dan Faktor Pendukung : Adanya anggaran dari pemerintah, dari pemerintah pusat maupun pemerintah daerah. Adanya sumber daya alam yang bisa dimanfaatkan dan diolah. Perhatian pemerintah terhadap pertanian. Faktor Penghambat : Masih kurangnya pengetahuan masyarakat khususnya petani. Masih ada nya oknum pemerintah yang nakal dan tidak bertanggung jawab. Kurangnya ketegasan hukum. Kata Kunci: Evaluasi Program, Bantuan Pengembangan Unit