bluuebunny/crossref_metadata_2025_split huggingface dataset:
Coinheritance of HNF1A and glucokinase variants in maturity-onset diabetes of the young
Authors: Watanabe Daisuke , Yagasaki Hideaki , Narusawa Hiromune , Inukai Takeshi 
Published: August 2024

Summary
Maturity-onset diabetes of the young (MODY) is a group of monogenic forms of diabetes mellitus characterized by early-onset diabetes with dominant inheritance of beta-cell dysfunction. There are few reports of the coinheritance of glucokinase (GCK) and hepatocyte nuclear factor 1 alpha gene (HNF1A) variants underlying MODY in patients. Herein, we describe a case involving combinations of monoallelic GCK and HNF1A variants associated with MODY. A 10-year-old Japanese girl with a three-generation family history of diabetes without obesity showed high levels of urinary glucose during a school screening test. Her glucose metabolism profile revealed 124 mg/dL of fasting glucose, 6.9% glycated hemoglobin (HbA1c), and 2.78 ng/mL of C-peptide immunoreactivity levels. In a 75-g oral glucose tolerance test, her base glucose, peak glucose, insulin resistance, and homeostasis model assessment of beta cell function levels were 124 mg/dL, 210 mg/dL (120 min), 1.71, and 33%, respectively. Based on the clinical phenotype of GCK-MODY, alimentary and exercise therapy without oral hypoglycemic agents were used to maintain her fasting glucose and HbA1c levels. We explored the coinheritance of MODY with GCK and HNF1A variants in this and past cases and found that careful clinical follow-up is required to firmly establish phenotypic features. Moreover, the accumulation of data on genetically confirmed MODY associated with the coinheritance of GCK and HNF1A variants will be useful for understanding genotype–phenotype correlations.

Learning points

MODY is a group of monogenic forms of diabetes mellitus characterized by early-onset diabetes with the dominant inheritance of beta-cell dysfunction.

MODY2 and MODY3 caused by heterozygous loss-of-function variants in the glucokinase (GCK) and hepatocyte nuclear factor 1 alpha (HNF1A) genes, respectively, are the most common forms of the disease.

Few cases of MODY have previously been reported as being associated with the coinheritance of GCK and HNF1A variants.

Careful clinical follow-up is required to firmly establish phenotypic features in the coinheritance of MODY with GCK and HNF1A variants.

The accumulation of data on genetically confirmed MODY associated with the coinheritance of GCK and HNF1A variants will be useful for understanding genotype–phenotype correlations.
Evolución y tendencias en la revista Quipukamayoc: revisión bibliométrica de 1993 a 2023
Authors: Rodríguez Cairo Vladimir , Vilchez Olivares Percy Antonio , Ortiz Huiza Renatta Rebeca Raffaella 
Published: August 2024

Objetivo: Analizar la evolución y tendencias bibliométricas en la revista Quipukamayoc entre 1993-2023. Métodos: Se empleó un enfoque cualitativo, utilizando el método analítico-sintético y la revisión documental como técnica de recolección de datos. La revisión bibliométrica se centró en tres áreas: análisis de los artículos, caracterización de los autores y evaluación del impacto de las publicaciones, proporcionando un estudio detallado y exhaustivo de las contribuciones en la revista. Los datos se recabaron de diversas fuentes, como Google Scholar Metrics, Scopus, SciELO y la propia revista. Resultados: De los 748 artículos publicados entre 1993-2023, 618 son originales y 130 de revisión. De los 1026 articulistas, 889 son nacionales y 137 extranjeros, siendo los más representativos los que proceden de México (43), Ecuador (41), Argentina (13), Colombia (10), Brasil (7) y España (7). Asimismo, los temas más recurrentes fueron contabilidad y finanzas (34 %), empresa (23 %), economía y comercio (16 %), tributación (15 %), sistemas y tecnologías de la información (5 %), y sector público y auditoría (7 %). Conclusión: Durante los 30 años de publicación continua, Quipukamayoc ha sido un referente importante en las áreas de investigación contable, económica, financiera y empresarial para autores y profesionales nacionales y extranjeros.
The Gaming Disorder Identification Test (GADIT) – A screening tool for Gaming Disorder based on ICD-11
Authors: Chan Gary C. K. , Saunders John B. , Stjepanović Daniel , McClure-Thomas Caitlin , Connor Jason , Hides Leanne , Wood Andrew , King Daniel , Siste Kristiana , Long Jiang , Leung Janni K. 
Published: August 2024

AbstractBackgroundGaming Disorder was included as an addictive disorder in the latest version of the International Classification of Diseases (ICD-11), published in 2022. The present study aimed to develop a screening tool for Gaming Disorder, the Gaming Disorder Identification Test (GADIT), based on the four ICD-11 diagnostic criteria: impaired control, increasing priority, continued gaming despite harm, and functional impairment.MethodWe reviewed 297 questionnaire items from 48 existing gaming addiction scales and selected 68 items based on content validity. Two datasets were collected: 1) an online panel (N = 803) from Australia, United States, United Kingdom and Canada, split into a development set (N = 589) and a validation dataset (N = 214); and 2) a university sample (N = 408) from Australia. Item response theory and confirmatory factor analyses were conducted to select eight items to form the GADIT. Validity was established by regressing the GADIT against known correlates of Gaming Disorder.ResultsConfirmatory factor analyses of the GADIT showed good model fit (RMSEA=<0.001–0.108; CFI = 0.98–1.00), and internal consistency was excellent (Cronbach's alphas = 0.77–0.92). GADIT scores were strongly associated with the Internet Gaming Disorder Test (IGDT-10), and significantly associated with gaming intensity, eye fatigue, hand pain, wrist pain, back or neck pain, and excessive in-game purchases, in both the validation and the university sample datasets.ConclusionThe GADIT has strong psychometric properties in two independent samples from four English-speaking countries collected through different channels, and shown validity against existing scales and variables that are associated with Gaming Disorder. A cut-off of 5 is tentatively recommended for screening for Gaming Disorder.
The influence of infiltration devices on the urban area
Authors: Raczková Andrea , Škultétyová Ivona , Wittmanová Réka , Hrudka Jaroslav , Hurban L'uboš 
Published: August 2024

AbstractIn a result of the increase in impervious surfaces in the urbanized area, there is an increase in surface runoff and at the same time an overload of the sewage network. In order to reduce the mentioned negative impacts in the inner city of Bratislava, this study was developed. The aim of this study was to design as possible the most efficient possible infiltration device for capturing rainwater and keeping it at the point of impact of precipitation of the addressed site. The Novohradska Grammar School campus was chosen as the area of interest. It is assumed that, together with elements of green infrastructure, these measures will be able to contribute in order to mitigate the adverse effects of urbanization in the capital.
Pre-scaling up of Desho grass technologies at highlands of Guji Zone, Oromia, Ethiopia
Authors: Basha Kebede , Tekle Bobo , Girma Amare 
Published: August 2024

Forage production is fundamental for livestock production. This activity was conducted to increase the production of improved Desho grasses, to increase wider demand for desho grass technologies, and to strengthen stakeholders’ linkage on desho grass production. In the 2022/23 and 2023/24 seasons, 64 farmers were selected from eight kebeles in Bore, Arda Jila Mea Boko, and Ana Sora districts, based on their livestock and desho grass production. Kindo Kosha DZF No# 591 and Areka DZF No# 590 improved desho grasses were pre-scaled with the recommended 50cm between rows and 10cm tillers, and 100 kg/ha NPS fertilizer was applied during planting, followed by 50 kg/ha UREA after establishment of the tillers. Desho grasses were promoted in areas ranging from 100 m2 to 400 m2. Training and a mini-field day were used to promote Desho grasses. Plot cover, plant height, regeneration, fresh biomass, and survival rate were collected through interviews and analyzed using descriptive statistics. The findings revealed that the Kindo Kosha DZF No# 591 variety (3.98) covered the land more than Areka DZF No# 590 (3.51). The higher plant height was recorded from Kindo Kosha DZF No# 591 (95.83 cm), followed by Areka DZF No# 590 (82.95 cm). Regenerations following harvest can provide more feed from fixed land. Farmers reported that Kindo Kosha DZF No# 591 and Areka DZF No# 590 varieties have 90.91% and 84.61% regeneration capacity, respectively. The Kindo Kosha DZF No# 591 variety has a higher survival rate (91.13%) than the Areka DZF No# 590 variety (87.22%). The grasses performed well in terms of fresh biomass yield, plot coverage, plant height, regeneration capability, and survival rate on farmers' fields and their production can help to alleviate feed shortages in the highlands of the Guji zone. As a result, Kindo Kosha DZF No# 591 and Areka DZF No# 590 desho grasses should be disseminated to highland areas of the Guji zone.
Assessing Local Public Health Governance in North Carolina Across Organizational and Governance Configurations
Authors: Johnson Karl , Eguizabal Juan Yanguela , Cilenti Dorothy , Wiesman John , Jensen Todd , Hassmiller Lich Kristen 
Published: August 2024

Background Every county in North Carolina must include a board of health (BOH) with specific prescribed duties and powers. It is unclear how BOHs in North Carolina are currently exercising their governance ability. In 2012, the North Carolina General Assembly provided coun­ties with additional flexibility to select among different configurations for their local health department (LHD). The impact of this flexibility on the governance and service delivery of LHDs is yet to be explored. Methods We conducted semi-structured interviews with LHD directors and BOH members to assess the strengths and weaknesses of BOHs within different local public health configurations across North Carolina. We employed conventional content analysis to derive themes from the interview transcripts. Results BOHs were largely described as an underutilized institution, with few BOHs noted to be active beyond satisfying their required legal duties. Strong BOHs were noted to fulfill three identities on behalf of the LHD: an advocate, a bridge, and an advisor. The majority of interviewees desired to work in a standalone county health department (as opposed to a consolidated human services agency) with an appointed (versus elected) board of health. This configuration was preferred because, according to participants, it is more likely to enable a structural focus on public health initiatives. Limitations Our sample frame did not control for the length of time an interviewee had been in the office nor the professional background of each BOH member. Conclusions Wide variations exist in the exercise of BOHs across the state, partially due to how different LHD configurations structurally focus resources and attention on public health.
Colorectal carcinoma in India: A study from a tertiary care centre
Authors: Parvez Sheeba , Shamim Gazala , Malhotra Aneeta Singh , Qadri Numaan Muhammad , Muzaffar Maha , Taban Naira , Khajuria Arvind 
Published: August 2024

Colorectal cancer (CRC), which comprises colon and/or rectum cancer, is a significant health problem and the world’s second most fatal cancer. Colorectal adenocarcinoma (CRA), can be divided into 4 grades according to Broder's criteria, i.e., well differentiated (I), moderately differentiated (II), poorly differentiated (III), and undifferentiated (IV). Currently, the TNM classification is considered the gold standard for the establishment of prognosis as well as deciding the type of treatment. The aim of our study was to assess the incidence, gender preponderance, site, histological grading and staging of colorectal carcinoma in our hospital. This is a retrospective study of 75 patients who were diagnosed as colorectal carcinoma from July 2022 to January 2024. The specimen of the cases were sent to our Department of Pathology, Acharya Shri Chandra college of medical sciences and hospital, Jammu for histopathological examination after resection. In our study we found out that the cases of colorectal carcinoma had a male preponderance with most cases ranging from age group 46 to 60. The most common site of occurrence was rectum and the most common histological grade diagnosed as per microscopy was grade ІІ, that is moderately differentiated adenocarcinoma. The highest number of cases were at Stage II, followed by Stage III. There is an urgent need to look upon the alarming rate of colorectal carcinoma and understand its incidence, grading and staging for a better prognosis.
PENGEMBANGAN LKPD BERBASIS PBL MATERI PERSAMAAN KUADRAT UNTUK MENINGKATKAN KEMAMPUAN PEMECAHAN MASALAH
Authors: Putri Sindy Emmalia , Zulkarnain Iskandar , Budiarti Indah 
Published: August 2024

Kemampuan pemecahan masalah matematis peserta didik masih rendah, terutama materi persamaan kuadrat. Salah satu cara yang dapat dilakukan adalah dengan menggunakan Lembar Kerja Peserta Didik (LKPD). Oleh karena itu, penelitian ini bertujuan untuk menghasilkan Lembar Kerja Peserta Didik (LKPD) berbasis Problem Based Learning pada materi persamaan kuadrat untuk meningkatkan kemampuan pemecahan masalah matematis peserta didik kelas IX SMP yang memenuhi kriteria valid, praktis, dan efektif. Penelitian yang dilakukan merupakan jenis penelitian dan pengembangan dengan menerapkan model penelitian ADDIE. Subjek uji coba dalam penelitian ini dilakukan pada kelompok kecil pada enam peserta didik yang memiliki tingkat kemampuan rendah, sedang dan tinggi. Instrumen penelitian yang digunakan adalah lembar validasi LKPD, lembar angket respon peserta didik, dan Tes Hasil Belajar (THB). Hasil penelitian menunjukkan: (1) LKPD yang dikembangkan memenuhi kriteria sangat valid, dengan nilai validitas sebesar 87,96% (2) uji keefektifan LKPD memenuhi kriteria sangat efektif, dengan persentase ketuntasan peserta didik adalah sebesar 100%, (3) LKPD juga memenuhi kriteria sangat praktis, dengan rata-rata respon peserta didik adalah 86%. Dengan demikian, LKPD berbasis Problem Based Learning pada materi persamaan kuadrat layak digunakan dalam proses pembelajaran untuk meningkatkan kemampuan pemecahan masalah matematis peserta didik.
Utiliser les racines pour moduler les impacts des déficits en eau et améliorer la gestion de l’eau dans les agrosystèmes
Authors: DOUSSAN Claude , LE GALL Samuel , RUY Stéphane , BÉRARD Annette 
Published: August 2024

Les plantes, au travers de leur système racinaire, sont des ingénieurs du sol qui sont capables de modifier les propriétés biologiques, chimiques et physiques du sol qu’elles colonisent. Cependant, si les propriétés du sol sont généralement étudiées et considérées pour leur impact sur les plantes (prélèvement hydrominéral, croissance et rendement), le fait qu’à l’inverse la plante agisse sur les propriétés du sol à travers son système racinaire, et sa rétroaction sur la plante, est beaucoup moins investigué. Une grande partie de ces interactions plante-sol se déroule dans la rhizosphère, zone ténue de sol entourant les racines et impactée par leur activité, qui se révèle être un « hotspot » d’activité biologique entretenu par l’apport de carbone racinaire (exsudats, mucilages) comprenant des composés polymériques spécifiques. Nous argumentons ici que l’effet racines/rhizosphère sur le sol est un levier pour agir sur la tolérance au déficit hydrique des cultures au travers de quelques exemples de nos travaux récents. Vu plus globalement, dans le cadre des systèmes de cultures et rotations, les systèmes racinaires peuvent s’avérer être un outil dans la gestion des propriétés hydrauliques du sol pour optimiser le bilan hydrique à l’échelle de la parcelle (partage ruissellement/infiltration, stockage de l’eau, drainage et recharge des nappes).
A Grand Challenge: Carbon Capture, Utilization, and Storage
Authors: Mohanty Kishore K. 
Published: August 2024

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This is the fifth in a series of six articles on SPE’s Grand Challenges in Energy, formulated as the output of a 2023 workshop held by the SPE Research and Development Technical Section in Austin, Texas.
Described in a JPT article last year, each of the challenges will be discussed separately in this series: geothermal energy; net-zero operations; improving recovery from tight/shale resources; digital transformation; carbon capture, utilization, and storage; and education and advocacy.

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Net global anthropogenic greenhouse gases (GHG), mainly CO2 and CH4 emissions, reached nearly 60 Gt CO2-eq in 2019, with energy-related emissions contributing the largest amount at nearly 40 Gt (IPCC 2022). The fugitive emissions from coal, oil, and gas industries are about 5.8%. Fig. 1 shows the global emissions from energy-related sectors; the use of coal, oil, and natural gas contributes the major share to GHG emissions.
In the past 15 years, electricity production from renewable sources (solar, wind, and hydroelectric) has increased significantly. However, renewable energy accounts for only about 15% of the primary energy generation now. Almost 80% of the primary energy comes from fossil fuels: coal, oil, and natural gas, and about 5% comes from nuclear fission.
In the next 30 years, the US Energy Information Administration (EIA) projects that renewable energy will grow from 15% to about 27.6% (Fig. 2) but cannot meet human consumption by itself. Fossil fuels would still contribute about 68.5%.
How do we use fossil fuels and at the same time reduce CO2 emission?
Fossil fuels can be used only if the associated CO2 can be captured and stored or reused. Hydrogen has been envisioned as the clean fuel for the future, but all of the needed hydrogen cannot come from electrolysis (for lack of renewable energy capacity); most will come from fossil fuels which, again, have to be supplemented with carbon capture in the net‑zero economy.
CCUS has three components: carbon capture, transportation, and storage/utilization. The scale of needed CCUS dictates that the three components need to be developed simultaneously for successful deployment of this technology. For example, a power plant cannot install a carbon capture unit until transportation and storage/utilization are in operation.

CO2 Capture
Carbon capture processes separate CO2 from gaseous streams emitted from industrial sources (point sources), e.g., power plants, steel plants, and steam methane reformers (SMR). The concentration of CO2 is about 4 to 12% in power plants, 20% in steel plants, and 15 to 45% in SMR.
There are also emerging capture techniques to separate CO2 from air (with a concentration of 0.042%) called direct air capture (DAC). As the CO2 concentration decreases, it takes more energy and cost (per CO2 amount) to separate.
Endothelial-Ercc1 DNA repair deficiency provokes blood-brain barrier dysfunction
Authors: Hansen Cathrin , Vacondio Davide , Molen Lennart van der , Jüttner Annika A. , Fung Wing Ka , Karsten Manon , Hof Bert van het , Fontijn Ruud , Kooij Gijs , Witte Maarten , Roks Anton , de Vries Helga , Mulder Inge , de Wit Nienke 
Published: August 2024

Abstract

Aging of the brain vasculature plays a key role in the development of neurovascular and neurodegenerative diseases, thereby contributing to cognitive impairment. Among other factors, DNA damage strongly promotes cellular aging, however, the role of genomic instability in brain endothelial cells (EC) and its potential effect on brain homeostasis is still largely unclear. We here investigated how endothelial aging impacts blood-brain barrier (BBB) function by using excision repair cross complementation group 1 (ERCC1)-deficient human brain ECs and an EC-specific Ercc1 knock out (EC-KO) mouse model. In vitro, ERCC1-deficient brain ECs displayed increased senescence-associated secretory phenotype (SASP) expression, reduced BBB integrity and higher sprouting capacities due to an underlying dysregulation of the Dll4-Notch pathway. In line, EC-KO mice showed more P21+ cells, augmented expression of angiogenic markers and a concomitant increase in the number of brain ECs and pericytes. Moreover, EC-KO mice displayed BBB leakage and enhanced cell adhesion molecule expression accompanied by peripheral immune cell infiltration into the brain. These findings were confined to the white matter, suggesting a regional susceptibility. Collectively, our results underline the role of endothelial aging as a driver of impaired BBB function, endothelial sprouting and increased immune cell migration into the brain, thereby contributing to impaired brain homeostasis as observed during the aging process.
IRF4 mediates non-enzymatic dependency on IRE1 in Multiple Myeloma cells
Authors: Oikonomidi Ioanna , Kameswaran Vasumathi , Pham Victoria C. , Zuazo-Gaztelu Iratxe , Gutgesell Lauren M. , Marsters Scot , Daniel Bence , Lill Jennie R. , Modrusan Zora , Ashkenazi Avi 
Published: August 2024

Abstract

Multiple Myeloma (MM) arises through oncogenic transformation of immunoglobulin-secreting plasma cells. MM often co-opts the endoplasmic-reticulum (ER) stress mitigator, inositol-requiring enzyme 1 (IRE1) to sustain malignant growth. While certain MMs require enzymatic IRE1-dependent activation of the ER-homeostatic transcription factor XBP1s, others display a non-enzymatic dependency on IRE1 that is not yet mechanistically understood. Interferon regulatory factor 4 (IRF4) stimulates gene programs that promote immune-cell proliferation and plays an essential role in MM. Here we show that the non-enzymatic reliance on IRE1 in MM entails IRF4. IRE1 silencing increased inhibitory phosphorylation of IRF4, disrupting its chromatin-binding activity and mRNA transcription. IRF4 knockdown recapitulated, whereas IRF4 re-expression reversed the anti-proliferative phenotype of IRE1 silencing. Mechanistic studies revealed that IRF4 engages the E2F1 and CDC25A genes and promotes CDK2 activation to drive cell cycle progression. Our results uncover an unexpected functional link between IRE1 and IRF4 in MM.
Association between type 2 diabetes mellitus and gastric cancer: A Mendelian randomization study
Authors: Yuan Yugang , Tian Li , Peng Guangwei , Jiang Danbin 
Published: August 2024

Abstract

Background & aims:
Type 2 diabetes mellitus (T2DM) has been proven to be associated with the risk of developing gastric cancer (GC) in observational studies. However, the result was affected by many potential confounding factors, so a Mendelian randomization (MR) study was conducted to assess the association.
Method
We performed bidirectional MR analyses to explore the causal relationship between T2DM and GC, as well as the risk factors for GC. To examine the effect caused by confounding factors, we took part of the risk factors into research. We also conducted a meta-analysis of the results from different data sources.
Result
The MR analysis revealed a negative correlation between T2DM and GC (odds ratio = 0.10, 95% confidence interval, 0.01–0.69; P = .02). Regarding the relationship between risk factors for GC and T2DM, we found that BMI (OR, 1.04; 95% CI, 1.04–1.05; P < .001), physical activity (OR, 0.98; 95% CI, 0.97-1.00; P = .01), ever smoking (OR, 1.03; 95% CI, 1.01–1.06; P < .001) and alcohol consumption (OR, 1.01; 95% CI, 1.00-1.02; P = .01) could increase the occurrence of T2DM. On the other hand, T2DM could increase the rate of HP infection (OR, 2.06; 95% CI, 1.16–3.66; P = .01) and EBV infection (OR, 6.31; 95% CI, 1.12–35.64; P = .04) to affect the development of GC. These factors could affect the outcome of observational studies, which differed from our research.
Conclusion
The results showed that T2DM had a negative correlation with GC. Confounding factors, including high BMI, physical activity, smoking, alcohol consumption, HP infection, and EBV infection, could reverse the tendency. Further research should be conducted to explore the specific mechanism regarding the causality between the two diseases.