bluuebunny/crossref_metadata_2025_split huggingface dataset:
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis
Authors: Yamoto Kaori , Kato Fumiko , Yamoto Masaya , Fukumoto Koji , Shimizu Kenji , Saitsu Hirotomo , Ogata Tsutomu 
Published: December 2023

AbstractCongenital tracheal stenosis is a rare life‐threatening disorder caused by narrow O‐shaped tracheal ring without smooth muscle. Its underlying genetic cause has not been elucidated. We performed whole exome sequencing in a patient with congenital tracheal stenosis and congenital heart defect, and identified a de novo pathogenic TBX5 variant (NM_181486.4:c.680T>C, p.(Ile227Thr)). The Ile227Thr‐TBX5 protein was predicted to have a decreased stability by in silico protein structural analyses, and was shown to have a significantly reduced activity for the NPPA promoter by luciferase assay. The results, together with the expression of mouse Tbx5 in the lung and trachea and the development of tracheal cartilage dysplasia in the lung‐specific Tbx5 null mice, imply the relevance of TBX5 pathogenic variants to congenital tracheal stenosis.
Russian fathers' involvement in childcare, children's education and housework during the COVID‐19 lockdown
Authors: Mikhaylova Oxana , Sivak Elizaveta 
Published: December 2023

AbstractThis study attempts to determine whether the increasing need for parental assistance with schooling and the improved options for this owing to remote work had an impact on fathers' involvement in childcare, children's education and housework during the COVID‐19 lockdown. We make use of information from a May 2020 online poll of 1359 Russian mothers. Using binary logistic regression, we examine the links between fathers' work schedules, the need for additional school support for children and an increase in father involvement. We compare father involvement in children's education and childcare before and during the lockdown. Our findings partially corroborate the ‘needs exposure’ theory, which holds that greater awareness of family needs can boost fathers' engagement. Furthermore, they emphasize that, given the high likelihood of upcoming pandemics and other crises affecting family life, considerable steps should be taken to promote gender equality in the family and the workplace. Such actions might be advantageous for the health of both parents and children.
Conversational Eyebrow Frowns Facilitate Question Identification: An Online Study Using Virtual Avatars
Authors: Nota Naomi , Trujillo James P. , Holler Judith 
Published: December 2023

AbstractConversation is a time‐pressured environment. Recognizing a social action (the ‘‘speech act,’’ such as a question requesting information) early is crucial in conversation to quickly understand the intended message and plan a timely response. Fast turns between interlocutors are especially relevant for responses to questions since a long gap may be meaningful by itself. Human language is multimodal, involving speech as well as visual signals from the body, including the face. But little is known about how conversational facial signals contribute to the communication of social actions. Some of the most prominent facial signals in conversation are eyebrow movements. Previous studies found links between eyebrow movements and questions, suggesting that these facial signals could contribute to the rapid recognition of questions. Therefore, we aimed to investigate whether early eyebrow movements (eyebrow frown or raise vs. no eyebrow movement) facilitate question identification. Participants were instructed to view videos of avatars where the presence of eyebrow movements accompanying questions was manipulated. Their task was to indicate whether the utterance was a question or a statement as accurately and quickly as possible. Data were collected using the online testing platform Gorilla. Results showed higher accuracies and faster response times for questions with eyebrow frowns, suggesting a facilitative role of eyebrow frowns for question identification. This means that facial signals can critically contribute to the communication of social actions in conversation by signaling social action‐specific visual information and providing visual cues to speakers’ intentions.
A community‐driven captive‐breeding and reintroduction program maintains genetic diversity in a threatened freshwater fish
Authors: Buckley Sean James , Brauer Chris , Lamin Chris , Rose Peter , Vornicu Diana‐Elena , Beheregaray Luciano B. 
Published: December 2023

AbstractCollaborative approaches to conservation management are critical to respond to the ongoing biodiversity crisis. However, local community involvement in many conservation actions is lacking, especially within translocation and reintroduction programs. Similarly, rapid integration of genetic information into collaborative programs with local communities is rarely conducted. Here, we describe a community‐based and collaborative reintroduction program for a threatened Australian freshwater fish, the southern pygmy perch (Nannoperca australis). We integrate on‐the‐ground translocation efforts by volunteers from local communities, captive breeding by a private aquarium business, and genetic analyses done by a research institution to provide a holistic framework for the reintroduction of southern pygmy perch. We evaluated genetic diversity, population structure, relatedness, and inbreeding across the duration of the reintroduction program using data from neutral and adaptive genomic markers. This allowed us to assess the ability of such a program to minimize inbreeding and retain genomic variation, and to promote adaptive potential of the reintroduced population. While genetic variation for the source populations was very low, we found no decrease in genetic diversity or increase in inbreeding across the program. These genetic findings support the efforts made by local communities and will further inform future reintroductions as part of a collaborative conservation framework. We expand on our empirical case study by describing a theoretical framework for integrating conservation genomics research with community‐led conservation management programs and identifying the benefits of such a collaboration. Our study highlights the importance of multifaceted and integrated conservation management approaches to effectively protect and manage threatened species.
An international survey of venous thromboembolic events and current practices of peri‐operative VTE prophylaxis after living donor hepatectomy
Authors: Reddy Mettu Srinivas , Kasahara Mureo , Ikegami Toru , Lee Kwang‐Woong ,   the iLDLT Vanguard Multi‐Center Study Project
Published: December 2023

AbstractBackgroundVenous thromboembolic complications are an uncommon but significant cause of morbidity & mortality after live donor hepatectomy . The precise incidence of these events and the current practices of centers performing living donor liver transplantation worldwide are unknown.MethodsAn online survey was shared amongst living donor liver transplantation centers containing questions regarding center activity, center protocols for donor screening, peri‐operative thromboembolic prophylaxis and an audit of ‐perioperative venous thromboembolic events after live donor hepatectomy in the previous five years (2016–2020).ResultsFifty‐one centers from twenty countries completed the survey. These centers had cumulatively performed 11500 living donor liver transplants between 2016–2020. All centers included pre‐operative l assessment for thromboembolic risk amongst potential liver donors in their protocols. Testing for inherited prothrombotic conditions was performed by 58% of centers. Dual‐mode prophylaxis was the most common practice (65%), while eight and four centers used single mode or no routine prophylaxis respectively. Twenty (39%) and 15 (29%) centers reported atleast one perioperative deep venous thrmobosis or pulmonary embolism event respectively. There was one donor mortality directly related to post‐operative pulmonary embolism. Overall incidence of deep venous thrombosis and pulmonary embolism events was 3.65 and 1.74 per 1000 live donor hepatectomies respectively. Significant variations in center practices and incidence of thromboembolic events was identified in the survey primarily divided along world regions. 75% of participating centers agreed on the need for clear international guidelines.ConclusionVenous thromboembolic events after live donor hepatectomy are an uncommon but important cause of donor morbidity. There is significant variation in practice among centers. Evidence‐based guidelines regarding risk assessment, and peri‐operative prophylaxis are needed.
The impact of colonic allograft inclusion on intestinal transplantation outcomes: Results from UNOS/OPTN database analysis
Authors: Matsushima Hajime , Sasaki Kazunari , Nair Amit , Tajima Tetsuya , Soyama Akihiko , Eguchi Susumu , Hashimoto Koji , Fujiki Masato 
Published: December 2023

AbstractBackgroundOutcomes of intestinal transplantation with colon allograft (ICTx) remain controversial. We aimed to assess the outcomes of ICTx in comparison to intestinal transplantation without colon (ITx) using the UNOS/OPTN registry database.MethodsWe retrospectively reviewed 2612 patients who received primary intestinal transplants from 1998 to 2020. The rates of acute rejection (AR) within 6 months after transplant were compared between ICTx and ITx. Risk factors of 6‐month AR were examined using logistic regression model by era. Furthermore, conditional graft survival was analyzed to determine long‐term outcomes of ICTx.ResultsOf 2612 recipients, 506 (19.4%) received ICTx. Graft and patient survival in ICTx recipients were comparable to those in ITx recipients. White ICTx recipients had a higher incidence of AR within 6 months compared to ITx during the entire study period (p = .002), colonic inclusion did not increase the risk of 6‐month AR in the past decade. ICTx recipients who experienced 6‐month AR had worse graft and patient survival compared to those who did not (p <.001 and p = .004, respectively). Among patients who did not develop 6‐month AR, Cox proportional hazard model analysis revealed that colonic inclusion was independently associated with improved conditional graft survival.ConclusionsIn the recent transplant era, colonic inclusion is no longer associated with a heightened risk of 6‐month AR and may provide better long‐term survival compared to ITx when AR is absent. Risk adjustment for rejection and proper immunosuppressive therapy are crucial to maximize the benefits of colonic inclusion.
The motivation and process for developing a consortium‐wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care
Authors: Hoban Hannah G. , Yip Tiffany A. , Chau Joanna C. , Bensen Jeannette T. , Desrosiers Lauren R. , Finnila Candice R. , Hindorff Lucia A. , Kelly Nicole R. , Lynch Frances L. , Rolf Bradley A. , Smith Hadley S. , Wasserstein Melissa P. , Hassmiller Lich Kristen 
Published: December 2023

AbstractCosts of implementing genomic testing innovations extend beyond the cost of sequencing, affecting personnel and infrastructure for which little data are available. We developed a time and motion (T&M) study within the Clinical Sequencing Evidence‐Generating Research (CSER) consortium to address this gap, and herein describe challenges of conducting T&M studies within a research consortium and the approaches we developed to overcome them. CSER investigators created a subgroup to carry out the T&M study (authors). We describe logistical and administrative challenges associated with resource use data collection across heterogeneous projects conducted in real‐world clinical settings, and our solutions for completing this study and harmonizing data across projects. We delineate processes for feasible data collection on workflow, personnel, and resources required to deliver genetic testing innovations in each CSER project. A critical early step involved developing detailed project‐specific process flow diagrams of innovation implementation in projects' clinical settings. Analyzing diagrams across sites, we identified common process‐step themes, used to organize project‐specific data collection and cross‐project analysis. Given the heterogeneity of innovations, study design, and workflows, which affect resources required to deliver genetic testing innovations, flexibility was necessary to harmonize data collection. Despite its challenges, this heterogeneity provides rich insights about variation in clinical processes and resource implications for implementing genetic testing innovations.
Community‐informed design: Blending community engagement and museum design approaches for sustainable experience development
Authors: Callahan Schreiber Robby , Goeke Megan , Bequette Marjorie 
Published: December 2023

AbstractThe museum field currently and historically has centered on the needs of White, educated, privileged, and affluent people, and changing that reality requires new ways of conceptualizing, organizing, and assessing our core practices. Practice‐based models—including specific stories of how museums and communities work together—are still needed in our field, both as guidance for structuring future projects and as inspiration for what is possible. We share a case study of a 10‐year makerspace design process and identify key features for sustaining community–museum relationships over an extended period of work, which we call community‐informed design. We describe five key aspects that promote sustainability in terms of community–museum relationships and the creation of high‐quality experiences: naming values and assumptions, emergent planning, flexible and distributed staffing, organization‐to‐organization relationships, and layered data.
Evaluation der Hautkrebsfrüherkennung in Deutschland – Teilnahme, Tumordetektion und Intervalltumoren auf Grundlage von GKV‐Daten
Authors: Garbe Claudia , Augustin Matthias , Augustin Jobst , Baltus Hannah , Eisemann Nora , Hübner Joachim , Katalinic Alexander , Wolf Sandra , Hagenström Kristina 
Published: December 2023

ZusammenfassungHintergrund und ZieleDie steigende Hautkrebshäufigkeit in Deutschland hat den Bedarf an sekundärpräventiven Maßnahmen erhöht. Hierfür wurde zum 01.07.2008 ein gesetzliches Hautkrebsscreening für Versicherte ab 35 Jahren eingeführt. Ziel dieses Arbeitspakets im Innovationsfonds‐Projekt „Perspektiven einer multimodalen Evaluation der Hautkrebsfrüherkennung“ (Pertimo) war die Erprobung einer Evaluation des Hautkrebsscreenings anhand von Sekundärdaten.Patienten und MethodikDatengrundlage waren gesetzlich Versicherte der DAK‐Gesundheit ab 35 Jahren, die zum 31.12.2010 versichert waren und bis Ende 2015 nachbeobachtet wurden. Die Raten der Teilnahme sowie der im Hautkrebsscreening entdeckten Hauttumoren (Tumordetektionen) und der Intervalltumoren, welche innerhalb von zwei Jahren nach einem befundfreien Hautkrebsscreening auftraten, wurden berechnet.ErgebnisseDie zweijährliche Hautkrebsscreening‐Inanspruchnahmerate in 2014 und 2015 lag bei Frauen bei 33,6% und bei Männern bei 32,6%. Von den Gescreenten hatten 4,2% im Zuge des Hautkrebsscreenings einen Hautkrebsbefund (Tumordetektion). Von allen inzidenten Hautkrebsdiagnosen (2012–2015) wurden 50,1% im Hautkrebsscreening entdeckt. Bei 1,5% der Versicherten mit Hautkrebsscreening ohne Befund wurde in den folgenden zwei Jahren ein inzidenter Hauttumor diagnostiziert (Intervalltumor).SchlussfolgerungenDie Daten der gesetzlichen Krankenversicherung bildeten das Hautkrebsscreening‐Geschehen in Deutschland ab und verdeutlichten die Wichtigkeit von Dermatologen im Screeningprozess. Die Analyse lieferte wichtige neue Erkenntnisse.
Towards predicting responses to an extreme event: traits that influence ground‐dwelling beetles' susceptibility to volcanic ash
Authors: Elizalde Luciana , Baudino Florencia , Werenkraut Victoria 
Published: December 2023

AbstractExtreme events are important determinants of environmental changes at multiple geographical and temporal scales, influencing the ecology and evolution of species. Volcanism in particular can modify entire landscapes through ash deposition, affecting the survival and abundance of susceptible species and favouring tolerant ones. However, there is still a lack of information for predicting which species will be more or less affected by volcanic disturbances. We test the hypothesis that the effect of volcanic ash will differentially affect taxa according to their morphological traits. We used a ground‐dwelling beetle community that was sampled before and immediately after the last eruption of the Puyehue‐Cordón Caulle (PCC) volcano. We measure traits that might help predicting responses to the ash deposition in insect species susceptible to the PCC volcanic eruption – i.e., their abundance decreased considerably – and compared them to others that were tolerant. We examined cuticle thickness, its structures (i.e., hairs) and microsculptures, and body size. We found that traits associated with smoothness of the cuticle (fewer hairs and microsculptures) and a small body enables species to better tolerate the negative effects of volcanic ash. These results are the first to explicitly test for traits that could help to predict which species will be more tolerant to volcanic ashes, a widespread disturbance associated with volcanism.
Spawning cohort trade‐offs of reproductive time and output in cyprinid fish along an elevation gradient
Authors: Liu Xingchen , Ding Chengzhi , Bond Nick , Sun Jingrui , Ding Liuyong , Chen Jinnan , Tao Juan 
Published: December 2023

AbstractUnderstanding environmental requirements for fish reproduction in natural habitats is crucial for population conservation and restoration. However, such information is extremely scarce for the highly threatened schizothoracine fishes that cover large elevation ranges on the Tibetan Plateau. This research investigated the spawning time, output and environmental conditions of wild Schizopygopsis thermalis along an elevational gradient (i.e., from 1766 to 4372 m) in the upper Nu‐Salween River. It found that the spawning grounds of S. thermalis were mainly located at elevations between 3600 and 4372 m, and spawning habitats mostly consist of still marginal areas (still water <10 cm deep) with gravel substrates. Otolith microstructure analysis revealed, for the first time, that S. thermalis spawns in two seasons (i.e., winter: from December to next February, and spring: from April to May), with the winter spawning period generally longer than the spring spawning period. Winter spawning started earlier and ended earlier at higher elevations, while spring spawning occurred earlier at lower elevations but ended simultaneously at higher elevations. As elevation increases, reproductive output also increases, and spawning cohorts shift from winter‐dominant to spring‐dominant. Winter spawning cohorts were associated with lower water temperatures but higher discharges than the spring spawning cohort, and both cohorts showed elevation‐related environmental preferences. Our results suggest that schizothoracine fish can adapt spawning strategies to elevation‐related environmental conditions, which fill the gaps in the reproductive characteristics of schizothoracine fishes, and highlight the importance of conserving schizothoracine habitats at high elevations in the Qinghai‐Tibetan rivers.
Pulmonary arteriovenous malformations in patients with previous brain abscess: a cross‐sectional population‐based study
Authors: Bodilsen Jacob , Madsen Trine , Brandt Christian Thomas , Müllertz Katrine , Wiese Lothar , Demirci Semra Turan , Suhrs Hannah Elena , Larsen Lykke , Gill Sabine Ute Alice , Hansen Birgitte Rønde , Nilsson Brian , Omland Lars Haukali , Fosbøl Emil , Kjeldsen Anette Drøhse , Nielsen Henrik ,   DASGIB Study Group
Published: December 2023

AbstractBackground and purposePulmonary arteriovenous malformations (PAVMs) may cause recurrent brain abscess. The primary aim was to determine the prevalence of PAVM amongst survivors of brain abscess. The proportion with cardiac right‐to‐left shunts was also assessed post hoc.MethodsThis was a cross‐sectional population‐based study of adult (≥18 years) survivors of cryptogenic bacterial brain abscess in Denmark from 2007 through 2016. Patients were invited for bubble‐echocardiography to detect vascular right‐to‐left shunting and, if abnormal, subsequent computed tomography thorax for diagnosis of PAVM. Data are presented as n/N (%) or median with interquartile range (IQR).ResultsStudy participation was accepted by 47/157 (30%) eligible patients amongst whom two did not appear for scheduled bubble‐echocardiography. The median age of participants was 54 years (IQR 45–62) and 19/57 (33%) were females compared with 59 years (IQR 48–68, p = 0.05) and 41/85 females (48%, p = 0.22) in non‐participants. Bubble‐echocardiography was suggestive of shunt in 10/45 (22%) participants and PAVM was subsequently confirmed by computed tomography in one patient with grade 1 shunting. The corresponding prevalence of PAVM was 2% (95% confidence interval 0.06–11.8) amongst all examined participants. Another 9/45 (20%) were diagnosed with patent in persistent foramen ovale (n = 8) or atrial septum defect (n = 1), which is comparable with the overall prevalence of 25% amongst adults in the Danish background population.ConclusionsUndiagnosed PAVM amongst adult survivors of cryptogenic bacterial brain abscess is rare but may be considered in select patients. The prevalence of cardiac right‐to‐left shunts amongst brain abscess patients corresponds to the prevalence in the general population.