bluuebunny/crossref_metadata_2025_split huggingface dataset:
First reported case of fragile foal syndrome type 1 in the Thoroughbred caused by PLOD1 c.2032G>A
Authors: Grillos Alexandra S. , Roach Jessica M. , de Mestre Amanda M. , Foote Alastair K. , Kinglsey Nicole B. , Mienaltowski Michael J. , Bellone Rebecca R. 
Published: December 2021

SummaryBackgroundWarmblood Fragile Foal Syndrome Type 1 (WFFS) is an autosomal recessive disorder reported previously only in warmbloods and thought to be caused by a variant in the gene procollagen‐lysine,2‐oxoglutarate 5‐dioxygenase 1 (PLOD1, c.2032G>A, p.Gly678Arg). Given the presentation of this Thoroughbred case, we hypothesised that a similar genetic mechanism caused this phenotype.ObjectivesTo describe the pathological and genetic findings on a foal presenting to a veterinary practice in the UK with skin lesions similar to other Ehlers‐Danlos Syndromes, including those documented for warmbloods with WFFS.Study designA single case report describing a genetic investigation.MethodsA Thoroughbred foal presenting as dystocia was euthanised for multiple skin lesions and developmental abnormalities. DNA extracted from the foal was tested for the PLOD1 variant (c.2032G>A, p.Gly678Arg) using the commercially available assay. To confirm causality and further interrogate potential novel causes of Ehlers‐Danlos Syndrome, 1799 functional candidate genes, including PLOD1, were analysed using whole genome sequencing data generated from DNA extracted from the foal's muscle. These data were compared to 34 control samples from at least 11 other breeds. Variants were prioritised for further evaluation based on predicted impact on protein function.ResultsPost‐mortem evaluation concluded that this foal suffered from a condition of collagen dysplasia. The foal was homozygous for the c.2032G>A PLOD1 variant. Only two other missense variants identified from whole genome sequencing data were also computationally predicted to be deleterious to protein function, (NPHP3 c.1253T>C, p.Leu418Pro, EPDR1 c.154G>C, p.Glu52Gln). Neither of these genes have been linked to similar phenotypes, or Ehlers‐Danlos Syndrome in humans or other species and thus further investigation of these variants as the cause of EDS was not warranted.Main limitationsThis study is a single case report in the Thoroughbred with no additional cases from this breed yet identified to replicate this finding.ConclusionsGiven the clinical presentation similar to WFFS, homozygosity for the PLOD1 variant, and absence of another more plausible causal variant from the WGS experiment, we conclude that PLOD1 c.2032G>A is the likely cause of this foal's condition. This is the first documented evidence of fragile foal syndrome caused by the PLOD1 variant in a breed outside of warmbloods, the Thoroughbred. We therefore recommend a change in the name of this disorder to fragile foal syndrome type 1 (FFS) and utilisation of genetic testing in Thoroughbreds to avoid producing affected foals.
Changes in Life Satisfaction in Couples after Successful In vitro Fertilization and Natural Pregnancy
Authors: Kiesswetter Manuel , Danay Erik , Duschek Stefan 
Published: December 2021

AbstractBackgroundPrevious research suggested reduced well‐being and quality of life in couples with an unfulfilled desire to have a child. However, changes in psychological variables in infertile couples after successful in‐vitro fertilization (IVF) have been scarcely investigated.PurposeThis prospective study explored changes in life satisfaction, stress burden and habitual worry related to the birth of a child in couples undergoing IVF, and in those experiencing natural pregnancy.MethodsIn total, 77 couples with successful IVF and 50 couples with natural pregnancy completed the Life Satisfaction Questionnaire, Perceived Stress Questionnaire and Penn State Worry Questionnaire; data were recorded before pregnancy (baseline) and 6 and 12 months after childbirth. Multi‐level models were applied for data analysis.ResultsCouples with IVF reported lower life satisfaction, and higher stress burden and worry, than those with natural pregnancy at baseline. Moreover, they showed a steep increase in life satisfaction at 6 and 12 months after childbirth, and decreased stress and worry. In couples with natural pregnancy, life satisfaction scores decreased, and those of stress and worry increased, at month 6 after childbirth and returned to initial state at month 12.ConclusionsThe group difference at baseline underlines the psychosocial burden of infertility. However, the increase in life satisfaction and decreases in stress and worry suggest that the burden is lessened after the birth of a child. The changes in couples with natural pregnancy reflect the impact of the typical challenges posed by childbirth and successful readjustment during the first year of the child´s life.
How to best monitor bivalirudin anticoagulant effect for ECMO and VAD—Comparison of four assay methods
Authors: Teruya Jun , Bruzdoski Karen , Hensch Lisa , Hui Shiu‐Ki Rocky , Kostousov Vadim 
Published: December 2021

AbstractIntroductionUnfractionated heparin is widely used as an anticoagulant for extracorporeal life support (ECLS) and usually monitored with activated partial thromboplastin time (aPTT). Due to its limitations in pediatric populations and interferences with monitoring, bivalirudin is being utilized more frequently in these settings. For bivalirudin, other tests have emerged such as dilute thrombin time (dTT) and ecarin chromogenic assay (ECA); however, their utilities in pediatrics are unexplored. Development of suitable, accurate testing for bivalirudin monitoring is paramount to prevent complications. We sought to compare aPTT, aPTT with heparinase (HPTT), dTT1:4, modified dTT1:10, and ECA for monitoring of pediatric ECLS patients anticoagulated with bivalirudin.MethodsaPTT, HPTT, dTT1:4, dTT1:10, and ECA were measured in 51 specimens from 17 children on bivalirudin‐anticoagulated ECLS. Normal pooled plasma was spiked with various bivalirudin concentrations, and aPTT, dTT1:4, dTT1:10, and ECA were measured. In addition, dTT assays were performed using plasma from normal donors spiked with bivalirudin, heparin, and cryoprecipitate.ResultsdTT1:4 showed excellent correlation with ECA, while dTT1:4 correlated moderately with aPTT or HPTT. Fifty to 75% of specimens showed discordant results between dTT1:4 and HPTT. We found that dTT1:4 and ECA prolongations are associated with bivalirudin infusion rate; however, there are age‐based differences that should be accounted for. The performance of dTT1:10 was similar to dTT1:4, though it was less sensitive to interfering factors (heparin or hyperfibrinogenemia).ConclusiondTT1:10 appears to be more suitable for routine practice due to fewer variations and lower cost for monitoring bivalirudin in pediatric ECLS.
Double‐negative T cells: Setting the stage for disease control or progression
Authors: Velikkakam Teresiama , Gollob Kenneth J. , Dutra Walderez Ornelas 
Published: December 2021

AbstractDouble‐negative (DN) T cells are present at relatively low frequencies in human peripheral blood, and are characterized as expressing the alpha‐beta or gamma‐delta T‐cell receptor (TCR), but not the CD4 nor the CD8 co‐receptors. Despite their low frequencies, these cells are potent producers of cytokines and, thus, are key orchestrators of immune responses. DN T cells were initially associated with induction of peripheral immunological tolerance and immunomodulatory activities related to disease prevention. However, other studies demonstrated that these cells can also display effector functions associated with pathology development. This apparent contradiction highlighted the heterogeneity of the DN T‐cell population. Here, we review phenotypic and functional characteristics of DN T cells, emphasizing their role in human diseases. The need for developing biomarkers to facilitate the translation of studies from animal models to humans will also be discussed. Finally, we will examine DN T cells as promising therapeutic targets to prevent or inhibit human disease development.
Pupil size and pupillary light reflex in early infancy: heritability and link to genetic liability to schizophrenia
Authors: Portugal Ana Maria , Taylor Mark J. , Viktorsson Charlotte , Nyström Pär , Li Danyang , Tammimies Kristiina , Ronald Angelica , Falck‐Ytter Terje 
Published: December 2021

BackgroundMeasures based on pupillometry, such as the pupillary light reflex (PLR) and baseline pupil size, reflect physiological responses linked to specific neural circuits that have been implicated as atypical in some psychiatric and neurodevelopmental conditions.MethodsWe investigated the contribution of genetic and environmental factors to the baseline pupil size and the PLR in 510 infant twins assessed at 5 months of age (281 monozygotic and 229 dizygotic pairs), and its associations with common genetic variants associated with neurodevelopmental (autism spectrum disorder and attention deficit hyperactivity disorder) and mental health (bipolar disorder, major depressive disorder and schizophrenia) conditions using genome‐wide polygenic scores (GPSs).ResultsUnivariate twin modelling showed high heritability at 5 months for both pupil size (h2 = .64) and constriction in response to light (h2 = .62), and bivariate twin modeling indicated substantial independence between the genetic factors influencing each (rG = .38). A statistically significant positive association between infant tonic pupil size and the GPS for schizophrenia was found (β = .15, p = .024), while there was no significant association with the GPS for autism or any other GPSs.ConclusionsThis study shows that some pupil measures are highly heritable in early infancy, although substantially independent in their genetic etiologies, and associated with common genetic variants linked to schizophrenia. It illustrates how genetically informed studies of infants may help us understand early physiological responses associated with psychiatric disorders which emerge much later in life.
Addition of 4‐oxoisophorone improves performance of bisexual lure for Autographa gamma (L.) (Lepidoptera: Noctuidae)
Authors: Nagy Antal , Szarukán István , Szalárdi Tímea , Szanyi Szabolcs , Jósvai Júlia K. , Tóth Miklós 
Published: December 2021

AbstractIn field trapping tests the addition of 4‐oxoisophorone (2,6,6‐trimethylcyclohex‐2‐ene‐1,4‐dione) to the known ternary bisexual lure (consisting of phenylacetaldehyde + benzyl acetate + eugenol) significantly increased catches of the silver Y moth Autographa gamma, an important migratory noctuid pest. Both female and male moths were attracted, supposedly in the natural sex ratio of the local population. Traps baited with the quaternary lure caught 27.9% of the number of moths in traps baited with synthetic sex pheromone (all males), and the two types of lures showed similar seasonal trends when following the quantitative changes in moth flight throughout the whole season. This suggests that the improved quaternary bisexual lure could be efficient enough to yield a new tool for detection and monitoring of A. gamma, resulting in more reliable plant protection decisions based on female catches, and can provide data for studies where the catch of females and data on sex ratio are indispensable.
A preliminary evaluation of the impact of pulsed electric field and high‐pressure processing treatments on mobility of norbixin molecules through rennet‐induced casein matrices
Authors: Alehosseini Ali , Wall Catherine , Segat Annalisa , Tiwari Brijesh K. , Sharma Prateek , Kelly Alan L. , Sheehan Jeremiah J. 
Published: December 2021

AbstractConsidering the turnover of global cheese industry and while colored cheese is a subset of this, the issue of producing colored cheese without compromising the quality and economic value of the whey stream is a significant one. In this work, the potential of two pilot‐scale processes—pulsed electric field (PEF) and high‐pressure processing (HPP)—to increase the diffusion rate of norbixin molecules through a casein model system, rennet‐induced micellar casein concentrate, and Cheddar cheese, were evaluated independently. Varying PEF treatments (2.4 kV cm−1, pulse widths: 5–7 μs) were applied to alter the degree of sample permeabilization; however, the migration patterns of norbixin molecules were not statistically affected. Cheddar cheese samples were also subjected to high pressure (HP) treatments (250–400 MPa, 10 min). Confocal laser scanning micrographs of the HP‐treated samples showed more distinct spherical fat globules surrounded by the continuous protein phase, suggesting HP‐treatment considerably assists hydration of the protein phase and induces the distinctive fat mass appearance. However samples L*, a*, and b* color values were not altered significantly other than minor colorant diffusion through surface crevices. While the operational parameters, at the range applied in this work, did not significantly increase the penetration rate of norbixin through the samples, the resulting findings do significantly add to the current knowledge and through further research should considerably shorten the path to achieving a practical solution.Practical ApplicationsThe two industrially scalable approaches (i.e., PEF and HPP) that have been evaluated in the current research have not previously been applied to increase the migration of norbixin molecules through the renneted casein structure. Furthermore, the application of PEF to cheeses is one in which interest is now growing. The current authors believe that the current study has a high degree of commercial importance and could be used as a catalytic study for further research around manipulating the relevant parameters and optimizing the process, so that PEF and HPP can finally be used at industrial scale.
Association between placental implantation abnormalities and hypertensive disorders of pregnancy
Authors: Zheng Panchan , Chen Dan , Ye Baoying , Yang Xingyu , Cheng Weiwei 
Published: December 2021

AbstractAimThis study aimed to investigate the association between placental implantation abnormalities (PIAs) and gestational hypertension‐preeclampsia (GH‐PE) in pregnant women.MethodsPatients were recruited from 2010 to 2019 into this retrospective study at the International Peace Maternity & Child Health Hospital. PIAs were classified as follows: placenta previa (PP), low‐lying placenta (LP), placenta accreta, and placenta adherence (PA). Logistic regression models were constructed to analyze the associations between placental abnormalities and GH‐PE. Propensity score matching (PSM) was conducted to reduce confounders. The relationship between PP with placenta accreta spectrum (PAS) and GH‐PE were assessed.ResultsIn total, 5527 women were recruited, and 2614 women had an abnormal placenta (992 with LP; 749 with PP 839 and PA; and 34 with placenta accreta). There were 296 patients with GH‐PE in those groups. After adjustments for confounding factors, women with PP had a lower risk of PE (odds ratio [OR]: 0.43; 95% confidence interval [CI]: 0.19–0.86, p = 0.025) than those in the control group. Women with PA had a higher risk of GH‐PE (OR: 1.45; 95% CI: 1.05–1.99, p = 0.022). In addition, we categorized PP into marginal, complete, and partial PP and investigated these associations. We found a lower risk of PE in complete PP (OR: 0.09, 95% CI: 0.01–0.44, p = 0.020) than in marginal or partial PP. There was no significant difference regarding GH‐PE in the PP with PAS group (OR = 0.67, 95% CI: 0.82–2.34, p = 0.525).ConclusionPP, especially complete PP, is associated with a lower risk of PE. PA is associated with higher risks of GH‐PE.
The Impact of Waivers on Summer Meal Participation in Maryland
Authors: Harper Kaitlyn , Lu Stacy V. , Gross Julia , Obudulu Chinwe , Wilson Michael J. , Gross Susan M. 
Published: December 2021

ABSTRACTBACKGROUNDThe Summer Food Service Program (SFSP) is a federally funded program that serves free, nutritious meals during the summer months. In 2019, 6 federal waivers that previously helped sponsors serve meals were rescinded. The purpose of this mixed methods study was to assess the impact of the waiver rescission on the experiences of SFSP sponsors in Maryland.METHODSThis study analyzed responses from Maryland SFSP sponsors in a quantitative online survey and linked meal participation data for 2018 and 2019 (n = 29) and in‐depth interviews (n = 11) about their experiences serving summer meals.RESULTSMost respondents reported that the waiver rescission significantly impacted their experience serving meals, including increases in workload, spending and staffing; reductions in meal types (eg, breakfast); fewer meals served; and changing closed sites to open. Sponsors expressed desire for the state to apply for waivers on behalf of all SFSP sponsors in future years.CONCLUSIONThe federal rescission of USDA summer meals waivers created substantial barriers for sponsors. To address the issues created by policy decisions, school food authorities and other SFSP should continue to work with researchers and antihunger advocates to share their experiences in order to shape state programs and policies.
Latinx youth's ethnic‐racial identity in context: Examining ethnic‐racial socialization in a new destination area
Authors: Witherspoon Dawn P. , Wei Wei , May Emily M. , Boggs Saskia , Chancy Daphney , Bámaca‐Colbert Mayra Y. , Bhargava Sakshi 
Published: December 2021

AbstractThe current study examined how ethnic‐racial socialization (i.e., ERS; cultural socialization, preparation for bias) is shaped by neighborhood characteristics and parents’ perceived discrimination, as well as how ERS shapes youth ethnic‐racial identity (ERI) among Latinx parent‐adolescent dyads (N= 69) living in a new destination area (i.e., not historically settled by Latinx populations). Results showed that neighborhood diversity was positively associated with parents’ ERS beliefs, which in turn were associated with youth's perceptions of parents’ ERS behaviors, which predicted youth ERI outcomes (i.e., centrality and private regard). Neighborhood problems were negatively associated with youth public regard. Neither neighborhood problems nor parents’ perceived discrimination was associated with ERS. The current study adds to limited empirical evidence on how neighborhood structural and social characteristics impact ERS, and in turn, ERI, among Latinx families. Overall, study findings advance knowledge on how cultural and contextual factors shape ERS in an understudied context.
Effect of washing units of canine red blood cells on storage lesions
Authors: Coll Ashley C. , Ross Matthew K. , Williams Matthew L. , Wills Robert W. , Mackin Andrew J. , Thomason John M. 
Published: December 2021

AbstractBackgroundIn humans, washing stored blood products before transfusion reduces storage lesions and incidence of transfusion reactions, but the effectiveness of washing canine blood is unknown.ObjectivesThe objective was to determine if manually washing units of stored blood would reduce storage lesions without adversely affecting erythrocytes. We hypothesized that washing stored units would reduce concentrations of storage lesions and cause minimal erythrocyte damage.AnimalsEight healthy research dogs.MethodsRepeated measure cohort study. Units of whole blood were stored for 28 days and washed 3 times with 0.9% NaCl. Blood samples were collected before and after storage, after each wash, and after being held at a simulated transfusion temperature. Variables measured included CBC variables, blood gas analysis, erythrocyte morphology, mean corpuscular fragility (MCF), and eicosanoid concentrations. A Friedman's test was used to evaluate changes in variables (P < .05 was considered significant).ResultsAfter the first wash, compared to values after storage, there was a significant decrease in potassium (4.3 mmol/L [4.0‐4.7] to 1.2 mmol/L [1‐1.6]; P < .0001, median [range]), lactate (1.45 mmol/L [1.07‐1.79] to 0.69 mmol/L [0.39‐0.93]; P = .002), and partial pressure carbon dioxide (102 mm Hg [80.2‐119.2] to 33.7 mm Hg [24.5‐44.5]; P < .0001), and increase in MCV (69.3 fL [65.7‐72.3] to 74 fL [69.6‐79.5]; P = .0003), and MCF (0.444 fL [0.279‐0.527] to 0.491 fL [0.43‐0.616]; P = .0006).Conclusions and Clinical ImportanceA single wash of stored whole blood significantly reduces most extracellular storage lesions, and additional washing might cause hemolysis.
Application of a RiboTag‐based approach to generate and analyze mRNA from enteric neural cells
Authors: Leven Patrick , Schneider Reiner , Siemens Kevin D. , Jackson Walker S. , Wehner Sven 
Published: December 2021

AbstractBackgroundTranscriptional profiling of specific intestinal cell populations under health and disease is generally based on traditional sorting approaches followed by gene expression analysis. Therein, specific cell populations are identified either by expressing reporter genes under a cell type‐specific promotor or by specific surface antigens. This method provides adequate results for blood‐derived and tissue‐resident immune cells. However, in stromal cell analysis, cellular stress due to digestion often results in degraded RNA. Particularly, ramified cells integrated into the tissue, such as enteric neurons and glial cells, suffer from these procedures.These cell types are involved in various intestinal processes, including a prominent immune‐regulatory role, which requires suitable approaches to generate cell‐specific transcriptional profiles.MethodsSox10iCreERT2 and choline acetyltransferase (ChATCre) mice were crossed with mice labeling the ribosomal Rpl22 protein upon Cre activity with a hemagglutinin tag (Rpl22‐HA, termed RiboTag). This approach enabled cellular targeting of enteric glia and neurons and the immediate isolation of cell‐specific mRNA from tissue lysates without the need for cell sorting.Key resultsWe verified the specific expression of Rpl22‐HA in enteric glia and neurons and provided gene expression data demonstrating a successful enrichment of either Sox‐10+ glial or ChAT+ neuronal mRNAs by the RiboTag‐mRNA procedure using qPCR and RNA‐Seq analysis.Conclusions and inferencesWe present a robust and selective protocol that allows the generation of cell type‐specific transcriptional in vivo snapshots of distinct enteric cell populations that will be especially useful for various intestinal disease models involving peripheral neural cells.
ECAP is a key negative regulator mediating different pathways to modulate salt stress‐induced anthocyanin biosynthesis in Arabidopsis
Authors: Li Changjiang , Shi Lei , Li Xing , Wang Yanan , Bi Yujing , Li Wei , Ma Huifang , Chen Binqing , Zhu Lei , Fu Ying 
Published: December 2021

Summary

Anthocyanins are a subgroup of plant flavonoids with antioxidant activities and are often induced by various biotic and abiotic stresses in plants, probably to efficiently scavenge free radicals and reactive oxygen species. However, the regulatory mechanisms of salt stress‐induced anthocyanin biosynthesis remain unclear.

Using molecular and genetic techniques we demonstrated key roles of ECAP in differential salt‐responsive anthocyanin biosynthesis pathways in Arabidopsis thaliana.

ECAP, JAZ6/8 and TPR2 are known to form a transcriptional repressor complex, and negatively regulate jasmonate (JA)‐responsive anthocyanin accumulation. In this study, we demonstrated that under moderate salt stress, the accumulation of anthocyanins is partially dependent on JA signaling, which degrades JAZ proteins but not ECAP. More interestingly, we found that high salinity rather than moderate salinity induces the degradation of ECAP through the 26S proteasome pathway, and this process is independent of JA signaling. Further analysis revealed that ECAP interacts with MYB75 (a transcription factor activating anthocyanin biosynthetic genes) and represses its transcriptional activity in the absence of high salinity.

Our results indicated that plants adopt different strategies for fine‐tuning anthocyanin accumulation under different levels of salt stress, and further elucidated the complex regulation of anthocyanin biosynthesis during plant development and responses to environmental stresses.