bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia
Authors: Georges Adrien , Albuisson Juliette , Berrandou Takiy , Dupré Délia , Lorthioir Aurélien , D’Escamard Valentina , Di Narzo Antonio F , Kadian-Dodov Daniella , Olin Jeffrey W , Warchol-Celinska Ewa , Prejbisz Aleksander , Januszewicz Andrzej , Bruneval Patrick , Baranowska Anna A , Webb Tom R , Hamby Stephen E , Samani Nilesh J , Adlam David , Fendrikova-Mahlay Natalia , Hazen Stanley , Wang Yu , Yang Min-Lee , Hunker Kristina , Combaret Nicolas , Motreff Pascal , Chédid Antoine , Fiquet Béatrice , Plouin Pierre-François , Mousseaux Elie , Azarine Arshid , Amar Laurence , Azizi Michel , Gornik Heather L , Ganesh Santhi K , Kovacic Jason C , Jeunemaitre Xavier , Bouatia-Naji Nabila 
Published: June 2020

Abstract

Aims
Fibromuscular dysplasia (FMD) and spontaneous coronary artery dissection (SCAD) are related, non-atherosclerotic arterial diseases mainly affecting middle-aged women. Little is known about their physiopathological mechanisms. We aimed to identify rare genetic causes to elucidate molecular mechanisms implicated in FMD and SCAD.

Methods and results
We analysed 29 exomes that included familial and sporadic FMD. We identified one rare loss-of-function variant (LoF) (frequencygnomAD = 0.000075) shared by two FMD sisters in the prostaglandin I2 receptor gene (PTGIR), a key player in vascular remodelling. Follow-up was conducted by targeted or Sanger sequencing (1071 FMD and 363 SCAD patients) or lookups in exome (264 FMD) or genome sequences (480 SCAD), all independent and unrelated. It revealed four additional LoF allele carriers, in addition to several rare missense variants, among FMD patients, and two LoF allele carriers among SCAD patients, including one carrying a rare splicing mutation (c.768 + 1C&gt;G). We used burden test to test for enrichment in patients compared to gnomAD controls, which detected a putative enrichment in FMD (PTRAPD = 8 × 10−4), but not a significant enrichment (PTRAPD = 0.12) in SCAD. The biological effects of variants on human prostaclycin receptor (hIP) signalling and protein expression were characterized using transient overexpression in human cells. We confirmed the LoFs (Q163X and P17RfsX6) and one missense (L67P), identified in one FMD and one SCAD patient, to severely impair hIP function in vitro.

Conclusions
Our study shows that rare genetic mutations in PTGIR are enriched among FMD patients and found in SCAD patients, suggesting a role for prostacyclin signalling in non-atherosclerotic stenosis and dissection.
Sudden cardiac arrest of a 16-year-old boy with left main coronary artery atresia: a case report
Authors: Tomura Nobunari , Nakagami Takuo , Yamaguchi Shinichiro , Yaku Hitoshi , Patel Peysh A 
Published: June 2020

Abstract

Background
In many cases, the cause of exercise-induced cardiopulmonary arrest in young persons is thought to be fatal arrhythmia, and one of the causes is ischaemic heart disease. Left main coronary artery atresia (LMCAA) is an extremely rare disease in which there is a congenital defect of the left main coronary artery, causing heart failure and exercise-induced angina attacks at a young age. Thus, it is disease that should be differentiated when examining young persons with chest pain.

Case summary
A 16-year-old boy experienced sudden cardiopulmonary arrest during soccer practice, was brought to our hospital for emergency treatment after return of spontaneous circulation. Elective coronary angiography revealed findings indicating an osmium defect in the left coronary artery (LCA) and blood flow via collateral circulation from the right coronary artery. Contrast-enhanced coronary computed tomography (CT) angiography showed a defect in the LCA ostium and LMCAA was diagnosed in the patient. After coronary artery bypass grafting was performed, but the patient was discharged in an ambulatory state with a wearable cardiac defibrillator. Postoperative course has been favourable.

Discussion
Left main coronary artery atresia is an extremely rare disease in which there is a congenital defect of the left main trunk of the coronary artery and should be differentiated when encountering cases of heart failure or exercise-induced angina/arrhythmia attacks in young persons who are not at risk for atherosclerosis. Exercise electrocardiogram may show a false negative result, and therefore coronary CT is useful for diagnosis.
Pulmonary embolism in COVID-19 patients: a French multicentre cohort study
Authors: Fauvel Charles , Weizman Orianne , Trimaille Antonin , Mika Delphine , Pommier Thibaut , Pace Nathalie , Douair Amine , Barbin Eva , Fraix Antoine , Bouchot Océane , Benmansour Othmane , Godeau Guillaume , Mecheri Yasmine , Lebourdon Romane , Yvorel Cédric , Massin Michael , Leblon Tiphaine , Chabbi Chaima , Cugney Erwan , Benabou Léa , Aubry Matthieu , Chan Camille , Boufoula Ines , Barnaud Clement , Bothorel Léa , Duceau Baptiste , Sutter Willy , Waldmann Victor , Bonnet Guillaume , Cohen Ariel , Pezel Théo ,   for the Critical Covid-19 France Investigators
Published: June 2020

Abstract

Aims
While pulmonary embolism (PE) appears to be a major issue in COVID-19, data remain sparse. We aimed to describe the risk factors and baseline characteristics of patients with PE in a cohort of COVID-19 patients.

Methods and results
In a retrospective multicentre observational study, we included consecutive patients hospitalized for COVID-19. Patients without computed tomography pulmonary angiography (CTPA)-proven PE diagnosis and those who were directly admitted to an intensive care unit (ICU) were excluded. Among 1240 patients (58.1% men, mean age 64 ± 17 years), 103 (8.3%) patients had PE confirmed by CTPA. The ICU transfer and mechanical ventilation were significantly higher in the PE group (for both P &lt; 0.001). In an univariable analysis, traditional venous thrombo-embolic risk factors were not associated with PE (P &gt; 0.05), while patients under therapeutic dose anticoagulation before hospitalization or prophylactic dose anticoagulation introduced during hospitalization had lower PE occurrence [odds ratio (OR) 0.40, 95% confidence interval (CI) 0.14–0.91, P = 0.04; and OR 0.11, 95% CI 0.06–0.18, P &lt; 0.001, respectively]. In a multivariable analysis, the following variables, also statistically significant in univariable analysis, were associated with PE: male gender (OR 1.03, 95% CI 1.003–1.069, P = 0.04), anticoagulation with a prophylactic dose (OR 0.83, 95% CI 0.79–0.85, P &lt; 0.001) or a therapeutic dose (OR 0.87, 95% CI 0.82–0.92, P &lt; 0.001), C-reactive protein (OR 1.03, 95% CI 1.01–1.04, P = 0.001), and time from symptom onset to hospitalization (OR 1.02, 95% CI 1.006–1.038, P = 0.002).

Conclusion
PE risk factors in the COVID-19 context do not include traditional thrombo-embolic risk factors but rather independent clinical and biological findings at admission, including a major contribution to inflammation.
Masters in the Things of War: Rethinking Military Justice during the Thirty Years War
Authors: Staiano-Daniels Lucian 
Published: June 2020

Abstract
Some historians have proposed that common soldiers in various parts of Europe lost a previous judicial independence around 1600 and have linked this development to a contemporary increase in discipline and in control over them. Meanwhile, historians of the Thirty Years War rarely mention military justice at all or depict this war as a time when military justice did not function. In contrast, this article examines the ordinary practice of military law during the Thirty Years War through a close reading of low-level legal paperwork generated by electoral Saxon units. Although military justice was not egalitarian, common soldiers in these units took an active role in the administration of justice, even in the early seventeenth century. The practice of law in early seventeenth-century electoral Saxon military units was similar to pre-existing structures of military justice, but subtly modified.
Trends of Physical Functioning, Morbidity, and Disability-Free Life Expectancy Among the Oldest Old: Six Repeated Cross-Sectional Surveys Between 2001 and 2018 in the Vitality 90+ Study
Authors: Enroth Linda , Raitanen Jani , Halonen Pauliina , Tiainen Kristina , Jylhä Marja 
Published: June 2020

Abstract

Background
It remains unclear whether increasing longevity is accompanied by a compression or expansion of poor health and disability. We examined trends of physical functioning and morbidity in a population aged 90 and older, and disease- and disability-free life expectancy (LE) at age 90 between 2001 and 2018 in Finland’s third most populated city.

Methods
We used survey data from the Vitality 90+ Study, which comprises a series of six repeated mailed surveys (7,590 observations). Information on mortality came from Statistics Finland. We examined trends of functioning (activities of daily living [ADL] and mobility) and cardiovascular and dementia morbidity using age-adjusted generalized estimating equation models stratified by sex. In addition, age-, sex-, and period-specific health expectancies were calculated using Sullivan’s method.

Results
Over time, functioning improved, especially, in women, and morbidity increased in men. From 2001 to 2018, LE at age 90 increased by 5.3 months for men and 6.4 months for women. LE without ADL disability increased by 5.0 months for men and 8.4 months for women, and LE without mobility disability by 6.0 months for men and 4.4 months for women. LE without cardiovascular and dementia morbidity decreased for men (2.6 months) and increased for women (1.9 months).

Conclusions
In relative terms, we found a compression of disability for both sexes and an expansion of morbidity for men. Although the trends overall are rather positive, the increase in absolute morbidity and, to some extent, in disability will inevitably mean increasing care needs with population aging.
Māori Becoming Peer Educators in Later Life: Impacts on Identity, Well-being, and Social Connectedness
Authors: Simpson Mary Louisa , Oetzel John , Nock Sophie , Greensill Hine-iti-moana , Meha Pare , Reddy Rangimahora , Johnston Kirsten , Cameron Michael , Harding Truely , Shelford Pita , Smith Linda Tuhiwai , Hokowhitu Brendan 
Published: June 2020

Abstract

Objective
The aim of this study was to examine ways that older Māori (New Zealand’s Indigenous people) enhanced their ability to be peer educators and how this role impacted on their sense of purpose and well-being in later life.

Method
Kaupapa Māori and community-based participatory research principles guided the peer intervention involving 26 Māori kaumātua (older people 55 years and older) as peer educators (tuakana) for 121 other kaumātua (teina) facing transitions in later life. Each pair held up to 3 conversations; independent coders rated tuakana communication skills. We used mixed methods in a pre- and post-test, clustered staggered design. Participants completed baseline and post-intervention assessments of health and well-being consistent with Māori worldviews. 5 focus groups involving 22 teina and 1 with 5 tuakana were held.

Results
Tuakana communication skills were rated as high by teina and independent coders. Qualitative analysis supported the importance of Māori communication processes for the role. Further, three measures increased significantly from the baseline to the final period for tuakana accounting for about 15% of the variance in these variables: sense of purpose (p = .07), self-rated health (p = .05), and health-related quality of life (p = .04). The qualitative analysis supported the benefits of the peer educator role for older Māori including enhanced sense of identity, well-being, and social connectedness.

Discussion
The results demonstrated that kaumātua had strong communication in the peer educator role and that the intervention has positive impacts for them. The study contributes to peer intervention research that may help to improve experiences ofIndigenous and other older people.
The Effectiveness of e-Health Solutions for Aging With Cognitive Impairment: A Systematic Review
Authors: Dequanter Samantha , Gagnon Marie-Pierre , Ndiaye Mame-Awa , Gorus Ellen , Fobelets Maaike , Giguère Anik , Bourbonnais Anne , Buyl Ronald 
Published: June 2020

AbstractBackground and Objectivese-Health solutions are an innovative approach to support aging with cognitive impairment. Because technology is developing at a fast pace, the aim of this review was to present an overview of the research regarding the effectiveness of these solutions. Moreover, the availability of these solutions was examined.Research Design and MethodsSystematic searches were conducted in 7 databases. Full texts of potentially relevant references were assessed by 2 reviewers, and discrepancies were solved through discussion. Data on study characteristics, technology type, application domain, availability, outcomes, and effects were extracted. A categorization exercise and narrative synthesis were conducted.ResultsIn total, 72 studies describing 70 e-Health solutions were identified. The majority of solutions comprised cognitive training for older adults, followed by educational and supportive web platforms for caregivers. Outcomes included mainly measures of cognition, psychosocial functioning, caregiving processes, caregiver–care receiver relationship, and activities of daily living. Positive effects of cognitive training technologies were observed on cognitive functioning of older adults, as well as those of supportive web platforms on behavioral and psychological symptoms of dementia and caregiver self-efficacy. The effects of these solutions on depression in both target groups were inconclusive. The methodological quality of the studies was moderate to good. However, some important limitations were observed.Discussion and ImplicationsThe review identified cognitive training solutions and supportive web platforms as the most effective on a limited number of outcomes. Although other solutions seem promising, further research has to overcome methodological issues. Furthermore, solutions for leisure and reminiscence and outcomes specifically related to independent living deserve more attention.
A Secret Longing for a Trade in Human Flesh: the Decline of British Slavery and the Making of the Settler Colonies
Authors: Lydon Jane 
Published: June 2020

Abstract
Focusing upon the achievement of the abolition of British slavery in 1833 has obscured significant continuities between slavery, apprenticeship, and the post-emancipation period, particularly in the new Anglophone settler colonies. During the decade leading up to abolition, domestic unrest intensified the tension between the elite abolitionist movement’s humanitarian concern for Caribbean slaves, and its leaders’ simultaneous implication in the repression of British workers – a corollary of which relegated convicts to the category of unreformable ‘voluntary slaves’. Edward Gibbon Wakefield’s 1829 proposal for colonization entered a longstanding debate about labour discipline that was central both to ameliorative slave reform and to experiments in emigration and settler colonialism, and expressed his ambivalence regarding the benefits of ‘free labour’. In the transition to new labour regimes, systematic colonization translated categories and practices developed in the Caribbean into colonial projects, including raced and classed labour hierarchies targeted to specific climatic zones. As Caribbean slavery ended and settler colonialism began, the new colonies offered a solution to the loss of the ‘trade in human flesh’ by removing dissenters from the British social order, opening up new fields for investment, and creating a disciplined colonial labour force.
Conservation and Management Strategies Create Opportunities for Integrative Organismal Research
Authors: McBrayer Lance D , Orton Richard W , Kinsey Chase T , Neel Lauren K 
Published: June 2020

SynopsisConservation and management activities are geared toward the achievement of particular goals for a specific species, or groups of species, at the population level or higher. Conversely, organismal or functional research is typically organized by hypothesis tests or descriptive work that examines a broader theory studying individual organismal traits. Here, we outline how integrative organismal biologists might conduct mutually beneficial and meaningful research to inform or assist conservation and management biologists. We argue that studies of non-target species are very useful to both groups because non-target species can meet the goals of managers and organismal biologists alike, while also informing the other. We highlight our work on a threatened lizard species’ thermal physiology, behavior, and color pattern—all of which are impacted by species management plans for sympatric, threatened, bird species. We show that management practices affect activity time, thermal adaptation, and substrate use, while also altering predation rates, crypsis, ectoparasite load, and sexual coloration in the study species. These case studies exemplify the challenges of conservation and management efforts for threatened or endangered species in that non-target species can be both positively and negatively affected by those efforts. Yet, the collaboration of organismal biologists with conservation and management efforts provides a productive system for mutually informative research.
Forum: Interlingual Relations: Approaches, Conflicts, and Lessons in the Translation Of Global Politics
Authors: Caraccioli Mauro J , Wigen Einar , Lopez Julia Costa , Cheney Amanda , Subotic Jelena 
Published: June 2020

AbstractAt stake in this forum are the politics of translation in the study of global politics. More specifically, the following interventions aim to consider the ways that scholars can recenter the utility of language toward more flexible conceptions of relationality. As each contribution reveals, translation is indispensable to individual theorizations of international politics; yet taken together, the forum aims to mitigate the alleged necessity of a lingua franca in IR scholarship. We go beyond the linguistic demands of conventional conceptual history in that each intervention employs a reflexive disposition to consider both their subject position and normative aspirations in the experience of translation. The forum's overall goal is to illustrate the ethical imperative to acknowledge the contextual specificity of linguistic encounters—past, present, and future—and in the process breathe life into the prose of world politics.
Effects of flush feeding strategy before breeding on reproductive performance of modern replacement gilts: impacts on ovulation rate and litter traits
Authors: Mallmann André L , Arend Lidia S , Oliveira Gabriela S , Mellagi Ana P G , Ulguim Rafael R , Bernardi Mari L , Bortolozzo Fernando P , Knox Robert V 
Published: June 2020

Abstract
AbstractThe effects of two feed levels offered during two estrous cycles before insemination were evaluated on the reproductive performance of gilts. A total of 93 gilts (PIC Hendersonville, TN) were individually housed and manually fed twice a day with 2.1 or 3.6 kg/d of a corn and soybean meal-based diet (3.15 Mcal ME/kg and 0.64% standardized ileal digestible lysine), during two estrous cycles before breeding (cycle 1, between first and second estrus; cycle 2, between second and third estrus). Gilts were weighed at the beginning of the experiment, at second and third estrus, and at slaughter (30.2 ± 1.2 d of gestation). Follicles were counted at second estrus, and the embryo-placental units and the corpora lutea were individually counted, measured, and weighed at slaughter. Gilts fed 3.6 kg/d had greater BW gain during cycle 1 and cycle 2 (P &lt; 0.001; + 9.8 kg and + 10.0 kg, respectively) becoming heavier at second and third estrus (P &lt; 0.001). At second estrus, gilts fed 3.6 kg/d had 1.6 more medium-large follicles (P = 0.074) but no difference in follicle size (P = 0.530) was observed. Gilts fed 3.6 kg/d in cycle 1 or cycle 2 had a greater ovulation rate at third estrus (P &lt; 0.016) than those receiving 2.1 kg/d. Also, 3.6 kg/d in cycle 2 increased early embryo mortality (P = 0.006; 2.3 vs. 1.1 dead embryos) and consequently reduced total embryo survival (P = 0.002; 84.6 vs. 90.1%). Gilts fed 3.6 kg/d during cycle 1 had two more total embryos (P &lt; 0.001; 17.2 vs. 15.1) and two more vital embryos on day 30 (P &lt; 0.001; 16.7 vs. 14.5) in comparison with gilts fed 2.1 kg/d. The coefficient of variation for placental length was greater for gilts fed 3.6 kg/d during cycle 1 (P = 0.003). No further significant effects of feeding levels were observed on embryo and placental traits (P ≥ 0.063). These results suggest that the feeding level during the first cycle after pubertal estrus is crucial to set ovulation rate and potential litter size for breeding at next estrus. However, flush feeding gilts before insemination can negatively impact litter size by reducing embryo survival when breeding at third estrus.
Sow and piglet traits associated with piglet survival at birth and to weaning
Authors: Gourley Kiah M , Calderon Hilda I , Woodworth Jason C , DeRouchey Joel M , Tokach Mike D , Dritz Steve S , Goodband Robert D 
Published: June 2020

AbstractAbstractUnderstanding the relationship between sow and piglet characteristics that are associated with stillborn rate and preweaning mortality is beneficial as litter size continues to increase. Two experiments were previously conducted to evaluate prefarrowing nutrition regimens on sow and litter characteristics. These two datasets (experiments 1 and 2) were then used to identify sow and piglet characteristics associated with stillborn rate and piglet survival to weaning. A total of 1,201 sows that gave birth to 19,168 pigs comprised the dataset. The following characteristics were used in multivariate logistic regression analysis for traits associated with stillborn rate or survival to weaning: parity, litter weight, mean piglet birth weight, sow backfat, and BW at day 113 of gestation, gestation length, farrowing duration, litter size, piglet birth order, farrowing assistance, pig to teat ratio, colostrum intake, and colostrum yield. Sows within each experiment (herd) were categorized into quartiles for each of the independent variables to quantify the relationship to stillborn rate or survival to weaning. Increased stillborn rate was associated (P &lt; 0.01) with heavier litter weights, lighter piglet birth weights, and larger litters in both experiments. In experiment 1, increased stillborn rate was associated (P &lt; 0.01) with longer farrowing duration. Increased stillborn rate was associated with sows with less backfat depth at day 113, older parity, or increased farrowing assistance in experiment 2. In both experiments, pigs born later in the birth order had an increased (P &lt; 0.01) risk of being stillborn. In both experiments, heavier piglet birth weight, greater colostrum intake, and lower total born were associated (P &lt; 0.01) with increased survival to weaning. In experiment 2, pigs born in the first 75% of the litter, or in a litter with lower pig to teat ratio were associated (P &lt; 0.01) with increased survival to weaning. Although the stillborn rate was similar between experiments (6.5% vs. 6.6%), differences in the traits associated with stillborn rate between studies indicate that some associated traits may be herd dependent. However, improving piglet birth weight, placing an emphasis on assisting pigs born later in the birth order and increasing colostrum intake will increase piglet survival from birth to weaning.