bluuebunny/crossref_metadata_2025_split huggingface dataset:
Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice
Authors: Sun Bo , Rouzbehani Omid M.T. , Kramer Ryan J. , Ghosh Rajeshwary , Perelli Robin M. , Atkins Sage , Fatahian Amir Nima , Davis Kathryn , Szulik Marta W. , Goodman Michael A. , Hathaway Marissa A. , Chi Ellenor , Word Tarah A. , Tunuguntla Hari , Denfield Susan W. , Wehrens Xander H.T. , Whitehead Kevin J. , Abdelnasser Hala Y. , Warren Junco S. , Wu Mingfu , Franklin Sarah , Boudina Sihem , Landstrom Andrew P. 
Published: December 2023

BACKGROUND:
PRDM16 plays a role in myocardial development through TGF-β (transforming growth factor-beta) signaling. Recent evidence suggests that loss of PRDM16 expression is associated with cardiomyopathy development in mice, although its role in human cardiomyopathy development is unclear. This study aims to determine the impact of PRDM16 loss-of-function variants on cardiomyopathy in humans.

METHODS:

Individuals with
PRDM16
variants were identified and consented. Induced pluripotent stem cell–derived cardiomyocytes were generated from a proband hosting a Q187X nonsense variant as an in vitro model and underwent proliferative and transcriptional analyses. CRISPR (clustered regularly interspaced short palindromic repeats)-mediated knock-in mouse model hosting the
Prdm16

Q187X

allele was generated and subjected to ECG, histological, and transcriptional analysis.

RESULTS:

We report 2 probands with loss-of-function
PRDM16
variants and pediatric left ventricular noncompaction cardiomyopathy. One proband hosts a PRDM16-Q187X variant with left ventricular noncompaction cardiomyopathy and demonstrated infant-onset heart failure, which was selected for further study. Induced pluripotent stem cell-derived cardiomyocytes prepared from the PRDM16-Q187X proband demonstrated a statistically significant impairment in myocyte proliferation and increased apoptosis associated with transcriptional dysregulation of genes implicated in cardiac maturation, including TGF-β–associated transcripts. Homozygous
Prdm16

Q187X/Q187X

mice demonstrated an underdeveloped compact myocardium and were embryonically lethal. Heterozygous
Prdm16

Q187X/WT

mice demonstrated significantly smaller ventricular dimensions, heightened fibrosis, and age-dependent loss of TGF-β expression. Mechanistic studies were undertaken in H9c2 cardiomyoblasts to show that PRDM16 binds TGFB3 promoter and represses its transcription.

CONCLUSIONS:

Novel loss-of-function
PRDM16
variant impairs myocardial development resulting in noncompaction cardiomyopathy in humans and mice associated with altered TGF-β signaling.
Utility of Left and Right Ventricular Strain in Arrhythmogenic Right Ventricular Cardiomyopathy: A Prospective Multicenter Registry
Authors: Namasivayam Mayooran , Bertrand Philippe B. , Bernard Samuel , Churchill Timothy W. , Khurshid Shaan , Marcus Frank I. , Mestroni Luisa , Saffitz Jeffrey E. , Towbin Jeffrey A. , Zareba Wojciech , Picard Michael H. , Sanborn Danita Yoerger ,   on behalf of the North American ARVC Registry
Published: December 2023

BACKGROUND:
Imaging evaluation of arrhythmogenic right ventricular cardiomyopathy (ARVC) remains challenging. Myocardial strain assessment by echocardiography is an increasingly utilized technique for detecting subclinical left ventricular (LV) and right ventricular (RV) dysfunction. We aimed to evaluate the diagnostic and prognostic utility of LV and RV strain in ARVC.

METHODS:
Patients with suspected ARVC (n = 109) from a multicenter registry were clinically phenotyped using the 2010 ARVC Revised Task Force Criteria and underwent baseline strain echocardiography. Diagnostic performance of LV and RV strain was evaluated using the area under the receiver operating characteristic curve analysis against the 2010 ARVC Revised Task Force Criteria, and the prognostic value was assessed using the Kaplan-Meier analysis.

RESULTS:

Mean age was 45.3±14.7 years, and 48% of patients were female. Estimation of RV strain was feasible in 99/109 (91%), and LV strain was feasible in 85/109 (78%) patients. ARVC prevalence by 2010 ARVC Revised Task Force Criteria is 91/109 (83%) and 83/99 (84%) in those with RV strain measurements. RV global longitudinal strain and RV free wall strain had diagnostic area under the receiver operating characteristic curve of 0.76 and 0.77, respectively (both
P
<0.001; difference NS). Abnormal RV global longitudinal strain phenotype (RV global longitudinal strain > −17.9%) and RV free wall strain phenotype (RV free wall strain > −21.2%) were identified in 41/69 (59%) and 56/69 (81%) of subjects, respectively, who were not identified by conventional echocardiographic criteria but still met the overall 2010 ARVC Revised Task Force Criteria for ARVC. LV global longitudinal strain did not add diagnostic value but was prognostic for composite end points of death, heart transplantation, or ventricular arrhythmia (log-rank
P
=0.04).

CONCLUSIONS:
In a prospective, multicenter registry of ARVC, RV strain assessment added diagnostic value to current echocardiographic criteria by identifying patients who are missed by current echocardiographic criteria yet still fulfill the diagnosis of ARVC. LV strain, by contrast, did not add incremental diagnostic value but was prognostic for identification of high-risk patients.
Giants of the Sands: The Giraffe and its Place in Symbolic Vocabulary in the Kingdom of Kush, Sudan
Authors: Kilroe Loretta 
Published: December 2023

Abstract
The image of a giraffe was added to both wheelmade and handmade pottery, faience plaques, temple walls and rock art in the Meroitic period of the Kingdom of Kush (c.570 BC–AD550), located in modern-day Sudan. However, giraffes do not appear in contemporary royal and elite art and architecture. This article explores the giraffe motif in Kush and compares this to its use earlier in Sudanese history as well as in neighbouring Egypt. The use of this motif on specific media suggests it was important in the symbolic language shared in the Middle Nile Region, but not in the elite canon, meaning it may be a window into understanding oral traditional practices of this time, that perhaps evolved and circulated over a long time period.
Historical Atlas of the Low Countries: A gis Dataset of Locality-Level Boundaries (1350–1800)
Authors: Stapel Rombert 
Published: December 2023

Abstract
This historical gis provides reconstructions of premodern village-level boundaries in the Low Countries, covering the present-day Netherlands, Belgium, Luxembourg and adjacent parts of France and Germany. While some countries have historical municipal gis maps for the nineteenth and twentieth centuries, this resource provides a detailed and contiguous historical gis for the premodern period. It also covers an area spanning several modern states, a rare undertaking. It combines modern and historical sources, including existing gis data, historical maps, and written records, focusing on the ‘smallest mappable units’ referred to as administrative areas in contemporary documents, such as parishes, lordships, or towns. This article accompanies the first tranche of the dataset for the 1500 cross-section, which can be used to link statistics for any period between 1350 and 1800. When completed, the gis dataset will cover four cross-sections: 1350, 1500, 1650, and 1800. Each cross-section will comprise an estimated 18.000 geographical units – typically around 5 to 10 km2 each. The dataset facilitates cross-temporal analysis of historical statistics while allowing users to consider the wider geographical and territorial micro and macro context of these statistics. The result will be an invaluable resource for historians, archaeologists, geographers, and social scientists alike.
Parrotfishes (Teleostei: Labridae: Scarini) of the Socotra Archipelago: Diversity and distributional biogeography, including a range extension of Scarus zufar Randall & Hoover, 1995
Authors: ZAJONZ UWE , BOGORODSKY SERGEY V. , SAEED FOUAD K.N. , AL-DEED MOTEAH S. , LAVERGNE EDOUARD 
Published: December 2023

An updated account of the diversity of parrotfishes from the Socotra Archipelago is provided. Fourteen species are positively recorded based on underwater observations, photography and collections, including confirmations of three species which were previously only tentatively recorded: Scarus falcipinnis (Playfair, 1868), Scarus scaber Valenciennes, 1840 and Scarus tricolor Bleeker, 1847. The distribution of Scarus zufar Randall & Hoover, 1995, previously known only from coastal waters of southern Oman, Pakistan and Bangladesh, is extended to the Archipelago, with Abd al-Kuri Island representing the westernmost edge of its known range. Visual records of three additional species are yet to be documented. With 14–17 species the Archipelago approximates the modal richness range of 15–18 species for Arabian ecoregions. A species account, accompanied by photographs, provides distinctive characters, distribution details in the Arabian region, and general remarks for each species. The distributional biogeography of the family pertinent to the Socotra Archipelago and the Arabian region is analysed in the context of the Western Indian Ocean. Three main Arabian units are identified: A ‘Red Sea unit’ spans the combined Red Sea ecoregions and the western Gulf of Aden; a ‘Socotra unit’ covers south-eastern Arabia including the Archipelago, the eastern Gulf of Aden and southern Oman; and a ‘Gulf unit’ combines the Arabian/Persian Gulf, the Gulf of Oman, and putatively central Oman. These units form a discrete “pan-Arabian” cluster within the wider Western Indian Ocean. The ‘Socotra unit’ resembles more strongly the ‘Gulf unit’ than the ‘Red Sea unit’. Parrotfishes thus contrast overall distributional patterns of reef fishes in Arabia.
On the Pathways of Wind-Driven Coastal Upwelling: Nonlinear Momentum Flux and Baroclinic Instability
Authors: Li Dou , Ruan Xiaozhou 
Published: December 2023

Abstract
Wind-driven upwelling of cold, nutrient-rich water is a key feature near the eastern boundaries of major ocean basins, with significant implications for the local physical environment and marine ecosystems. Despite the traditional two-dimensional description of upwelling as a passive response to surface offshore Ekman transport, recent observations have revealed spatial variability in the circulation structures across different upwelling locations. Yet, a systematic understanding of the factors governing the spatial patterns of coastal upwelling remains elusive. Here, we demonstrate that coastal upwelling pathways are influenced by two pairs of competing factors. The first competition occurs between wind forcing and eddy momentum flux, which shapes the Eulerian-mean circulation; the second competition arises between the Eulerian-mean and eddy-induced circulation. The importance of nonlinear eddy momentum flux over sloping topography can be described by the local slope Burger number, S = αN/f, where α is the topographic slope angle and N and f are the buoyancy and Coriolis frequencies. When S is small, the classic coastal upwelling structure emerges in the residual circulation, where water upwells along the sloping bottom. However, this comes with the added complexity that mesoscale eddies may drive a subduction route back into the ocean interior. As S increases, the upwelling branch is increasingly suppressed, unable to reach the surface and instead directed offshore by the eddy-induced circulation. The sensitivity of upwelling structures to variable wind stress and surface buoyancy forcing is further explored. The diagnostics may help to improve our understanding of coastal upwelling systems and yield a more physical representation of coastal upwelling in coarse-resolution numerical models.
Characteristics and Correlates of Perceived Physical and Psychological Health Among Family Caregivers Living With Persons With Advanced Dementia
Authors: Kim Hyejin , Engström Gabriella , Sadak Tatiana , Emami Azita 
Published: December 2023

Background: Various factors drive a care setting shift from institutional to home settings for dementia care until the latest stage of the disease, suggesting the critical role of family caregivers living with persons with dementia. Objectives: This study explored the characteristics and correlates of self-reported overall physical and psychological (ie, depressive symptoms and stress) health among family caregivers living with persons with dementia in Sweden. Methods: This cross-sectional, descriptive study used baseline data from an existing music-based intervention study of persons with dementia and their family caregivers ( N = 76). Multivariable linear regression analyses were performed. Results: On average, caregivers ( n = 38; mean age: 74.8 years) were slightly younger than persons with dementia ( n = 38; mean age: 78.6 years). Most caregivers were female ( n = 24; 63.2%) and spouses or partners of persons with dementia ( n = 37; 97.4%). Caregivers’ perceived relationship with their family members with dementia was the only factor associated with caregivers’ self-reported overall physical health ( b = −0.655, p = .046). This suggests caregivers’ more frequent feeling of a good relationship with the persons with dementia was linked to better self-rated physical health among family caregivers living with persons with dementia. Conclusions: This study highlights the importance of family caregivers’ perceived relationship with persons with dementia in the context of caregivers’ self-reported physical health. Future research is needed to explore the perceived relationship from the perspectives of persons with dementia and the determinants of caregiving dyads’ (persons with dementia and family caregivers) perceived relationship with each other.
The alterations of cardiac function during venovenous artificial placenta support in fetal goats
Authors: Li Guanhua , Li Mingliang , Teng Yun , Zhang Li , Pang Chengcheng , Tan Jianfeng , Chen Jimei , Zhuang Jian , Zhou Chengbin 
Published: December 2023

Introduction: Venovenous artificial placenta (VVAP) may mimic the intrauterine environment for maintaining fetal circulation. However, changes in ventricular function in fetal goats undergoing VVAP support remain unclear. Methods: Pump-assisted VVAPs were established in five fetal goats for 9 h. The myocardial performance index (Tei index), cardiac output (CO), and blood biochemical parameters were measured during VVAP support. Results: An increasing trend of the right ventricular (RV) Tei index was seen during VVAP support ( p for trend < 0.01). The right ventricular cardiac output (RVCO) increased after the initiation of VVAP, while a significant trend of reduction was observed after 3 h ( p for trend = 0.03). During VVAP support, we observed remarkable elevations of plasma cTnI and arterial lactic acid, which were positively correlated with the RV Tei index, but not the left ventricular (LV) Tei index, LVCO, and RVCO. Conclusions: The RVCO increases initially while a tendency of decrease could be observed during VVAP support. Special attention should be paid to right ventricular dysfunction during VVAP support.
Budget Deficit Financing and Macroeconomic Outcomes: New Evidence from a VARX Model for the Iranian Economy
Authors: Bayat Saeed , Qelich Wahhab , Amiri Hossein 
Published: December 2023

The main goal of the study is to evaluate the impacts of different government deficit financing strategies on GDP growth and inflation in the oil-rich nation of Iran from 1990:1 to 2018:4. The link between the government’s budget deficit and GDP growth is examined using the Explanatory-Augmented Vector Autoregressive (VARX) model. Because of the presence of unmodelled variables in the research, the VARX model was applied. The results of the study indicate that the way that the government finances the budget deficit had a direct impact on GDP growth, such that when the Foreign Exchange Reserve Account (FERA) is for most of the financing, the budget deficit’s impact on GDP growth is positive and its severity is increasing. Although the government’s budget deficit has a positive impact on GDP growth, it becomes less severe when most of the financing is obtained through the Selling Government-Owned Companies (SGOC), and when the sale of Debt Securities (DS) is for most of the financing, the impact of the government’s deficit on GDP growth is positive. The study concludes that there is an insignificant effect of a government’s budget deficit on inflation when most of the deficit is covered by withdrawals from the foreign exchange reserve account. However, the budget deficit has raised inflation when the two other sources of funding have gotten most of the funding. One of the study’s innovations is its investigation of the ways used to finance the government’s budget deficit in oil economies, especially Iran. The use of a VARX model to analyse the impact of the government’s budget deficit on macroeconomic indicators and the severity of that impact is another novel aspect of this research. In the Iranian economy, there is no proper statistical information available about the spending of the budget deficit (especially after 2009). This article concludes with a clear message to policymakers: if the government tends to reduce the share of oil income in financing the budget deficit, increasing the share of debt securities is the best alternative.
In-Hospital Code Status Updates: Trends Over Time and the Impact of COVID-19
Authors: Sahebi-Fakhrabad Amirreza , Kemahlioglu-Ziya Eda , Handfield Robert , Wood Stacy , Patel Mehul D. , Page Cristen P. , Chang Lydia 
Published: December 2023

Objective The primary objective was to evaluate if the percentage of patients with missing or inaccurate code status documentation at a Trauma Level 1 hospital could be reduced through daily updates. The secondary objective was to examine if patient preferences for DNR changed during the COVID-19 pandemic. Methods This retrospective study, spanning March 2019 to December 2022, compared the code status in ICU and ED patients drawn from two data sets. The first was based on historical electronic medical records (EHR), and the second involved daily updates of code status following patient admission. Results Implementing daily updates upon admission was more effective in ICUs than in the ED in reducing missing code status documentation. Around 20% of patients without a specific code status chose DNR under the new system. During COVID-19, a decrease in ICU patients choosing DNR and an increase in full code (FC) choices were observed. Conclusion This study highlights the importance of regular updates and discussions regarding code status to enhance patient care and resource allocation in ICU and ED settings. The COVID-19 pandemic’s influence on shifting patient preferences towards full code status underscores the need for adaptable documentation practices. Emphasizing patient education about DNR implications and benefits is key to supporting informed decisions that reflect individual health contexts and values. This approach will help balance the considerations for DNR and full code choices, especially during health care crises.
The Impact of Sensory Stimuli on Healthcare Workers and Outcomes in Trauma Rooms: A Focus Group Study
Authors: Bayramzadeh Sara , Ahmadpour Sahar 
Published: December 2023

Objective: This study investigated issues related to noise, lighting, and temperature in trauma rooms that impact patient care and staff performance. Background: Uncontrolled sensory stimuli can hinder healthcare delivery quality in trauma rooms. High noise and temperature levels can increase staff stress and discomfort as well as patient discomfort. Conversely, proper lighting can decrease staff stress levels and reduce burnout. Sensory overload in trauma rooms is a crucial concern, but no studies have been conducted on this issue. Method: Using a convenience sampling method, 65 trauma team members (e.g., surgeons, physicians, nurses) from six Level I trauma centers in the United States were recruited to participate in 20 focus groups. Focus groups were semi-structured and 1 hr long. Results: Staff covered issues related to communications and disruption from noise sources (e.g., equipment, conversations). Having control over lighting allows staff to change light intensity and facilitate their work during the resuscitation. A well-maintained temperature can provide patient comfort or reduce risk of hypothermia, given that patients can lose body heat rapidly due to loss of blood. Conclusion: Excessive sensory stimuli can result in disrupted communication, fatigue, and stress, making staff susceptible to errors. Staffs’ control over environmental conditions may lead to a more efficient, comfortable, and safer environment. Technology should be reliable and flexible to facilitate this.
Protocol for a multi-phase, multi-center, real-world, hybrid effectiveness–implementation study of a digital intervention for pediatric chronic pain co-designed with patients (Digital SPA)
Authors: de la Vega Rocío , Serrano-Ibáñez Elena R. , Ruiz-Párraga Gema T. , Palermo Tonya M. , Wicksell Rikard , Fernández-Jiménez Eduardo , Oliva Silvia , Roldán Susana , Monfort Laura , Peláez María José , Leyva Carmona Moisés , Ramírez-Maestre Carmen , López-Martínez Alicia E. , Miró Jordi , Esteve Rosa 
Published: December 2023

Background Children and adolescents with chronic pain are a vulnerable population who often lack the resources to manage their condition. Due to high personal, social, and economic consequences, proper management in its early stages is key to reducing disability. The aim of this project is to co-develop a digital intervention for pediatric chronic pain (Digital SPA) with end-users and to evaluate its effectiveness and implementation outcomes in Spain. Methods (Phase 1) Focus groups with patients, parents, and clinicians ( n = 5–6 each) will inform about unmet pain care needs and provide a starting point for co-designing the intervention. (Phase 2) Content creation and usability testing will be based on the results of Phase 1, and the theory-driven development will follow the latest available evidence. The intervention will use validated psychological techniques focused on improving functioning by teaching pain coping skills. (Phase 3) Hybrid effectiveness–implementation trial. Participants ( n = 195) will be adolescents aged 12–17 years old with chronic pain and one of their parents. Assessments include physical function, pain, sleep, anxiety, mood, satisfaction and adherence to the treatment, and number of visits to the emergency room. A qualitative framework analysis will be conducted with data from Phase 1. Effects of the intervention will be evaluated using linear multilevel modeling. The Consolidated Framework for Implementation Research (CFIR) and Behavioral Interventions Using Technology (BIT) frameworks will be used to evaluate implementation. Discussion This study is expected to produce a co-created evidence-based digital intervention for pediatric chronic pain and a roadmap for successful implementation. Trial registration number (TRN) and date of registration ClinicalTrials.gov (registered on 26 June 2023: https://clinicaltrials.gov/study/NCT05917626 ). Contributions to the literature The implementation of digital health interventions has two major gaps: (1) adherence to treatment is suboptimal, and (2) the process of making the interventions available to the end-user in a sustainable way is often unsuccessful. In this study, we expect that assessing users’ needs and co-designing an intervention with them will improve adherence. Documenting the implementation process from the project inception and integrating the results into an implementation framework will allow for replication and extension in different contexts. This study will increase the knowledge about implementation in a vulnerable population: adolescents with chronic pain without access to in-person multidisciplinary pain care.