bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cover crop biomass production across establishment methods in mid‐Atlantic corn
Authors: Moore Virginia M. , Mirsky Steven B. 
Published: August 2020

AbstractDrill‐interseeding, broadcast‐interseeding, and post‐harvest drilling for establishment of overwintering cover crops after no‐till corn (Zea mays L.) each present distinct challenges and benefits. Experiments were conducted at the Beltsville Agricultural Research Center (Beltsville, MD) across three growing seasons (2013–2014, 2014–2015, 2015–2016) to evaluate the relative performance of these three establishment methods across four cover crop treatments: (a) cereal rye (Secale cereale L.), (b) annual ryegrass [Lolium perenne L. ssp. multiflorum (Lam.) Husnot], (c) a legume mixture including red clover (Trifolium pratense L.), crimson clover (Trifolium incarnatum L.), and hairy vetch (Vicia villosa Roth), and (d) a grass–legume mixture including annual ryegrass, red clover, crimson clover, and hairy vetch. Both fall and spring biomass showed a significant three‐way interaction effect among cover crop, establishment method, and year. Cereal rye had the greatest biomass with late post‐harvest drilling but produced less fall and spring biomass than other cover crops in the drill‐interseeded treatments in two of the three growing seasons. The drill‐interseeded legume mixture produced less spring biomass than annual ryegrass and the grass–legume mixture when established at a later corn growth stage. Our results highlight potential pitfalls of each establishment method and cover crop, depending on annual variability in weather and management.
Growth stages and developmental patterns of guar
Authors: Adams Curtis B. , Boote Kenneth J. , Shrestha Rajan , MacMillan Jennifer , Hinson Philip O. , Trostle Calvin 
Published: August 2020

AbstractGuar [Cyamopsis tetragonoloba (L.) Taub.], also known as clusterbean, is a crop plant grown in semi‐arid regions worldwide for the galactomannan gum of its seed, and as a forage, vegetable, and green manure. Despite the importance of guar and its products, uniform growth stage descriptions have not been established for the crop. Such descriptions allow for improved documentation and communication of the growth and phenological development of crops by researchers, producers, and others. Following models of other warm‐season, indeterminant‐growth legumes, such a system was developed for guar based on visually observable and sequential vegetative (V) and reproductive (R) plant events. The system was evaluated in two locations in dryland and irrigated conditions, using three morphologically contrasting guar varieties. The V stages begin with emergence (VE) and then are determined by counting the nodes on the main stem of the plant, with the cotyledonary node as zero [V0 to V(N)]. The R stages include R1 (First Flower), R2 (First Pod), R3 (First Seed or Full Pod), R4 (Full Seed), R5 (First Maturity), R6 (50% Maturity), and R7 (Harvest Maturity). The V and R stages may be reported alone or concurrently and applied at plant or crop scales. The stage descriptions apply to all growth morphologies of guar (i.e., branched and non‐branched) and accommodate the indeterminant growth habit of the plant. Season‐long data is reported from field studies on crop V and R stage progression, as well as data on crop growth, including biomass component partitioning, productivity, and canopy development.
Reaction norms‐based approach applied to optimizing recommendations of cotton genotypes
Authors: Peixoto Marco Antônio , Coelho Igor Ferreira , Evangelista Jeniffer Santana Pinto Coelho , Alves Rodrigo Silva , Rocha João Romero do Amaral Santos de Carvalho , Farias Francisco José Correa , Carvalho Luiz Paulo , Teodoro Paulo Eduardo , Bhering Leonardo Lopes 
Published: August 2020

AbstractReaction norms fitted through random regression models (RRM) have been widely used in animal and plant breeding for analyses of genotype × environment (G × E) interaction. However, in annual crops, they remain unexplored. Thus, this study aimed to evaluate the applicability and efficiency of RRM fitted through Legendre polynomials as a tool to recommend cotton (Gossypium hirsutum L.) genotypes. To this end, a data set with 12 genotypes of cotton evaluated in 10 environments for fiber length (FL) and fiber fineness was used. The restricted maximum likelihood/best linear unbiased prediction (REML/BLUP) procedure was used to estimate the variance components and to predict the genetic values. Results showed that there was genetic variability among cotton genotypes and that the reaction norms over the environmental gradient illustrated the G × E interaction. Very high selective accuracies () were found for both traits in all environments, which indicates high reliability in the genotype's recommendation. The areas under the reaction norms were calculated for the recommendation of genotypes for unfavorable, favorable, and overall environments. Regarding genotypes recommendation, areas under reaction norms allow recommending genotypes for unfavorable and favorable environments, as well as for overall recommendation, for both traits. This study is the first considering reaction norms fitted through RRM for the recommendation of cotton genotypes and demonstrated the potential of this technique in cotton breeding, besides its great potential to deal with G × E interactions.
How Far Have we Come? An Integrative Review of the Current Literature on Sense of Community and Well‐being
Authors: Stewart Katricia , Townley Greg 
Published: August 2020

AbstractSense of community and well‐being are considered core tenets in the field of community psychology, acting as focal points for theory, research, and action. This integrative review synthesizes the empirical literature on sense of community and well‐being with respect to four research questions focused on the relationships between these variables, the methodologies used to study those relationships, and how future research might expand upon the current literature. A search of the available literature produced 30 articles that met the search criteria, based primarily on conceptualizations and measurement of both sense of community and hedonic and eudaimonic well‐being. This review suggests a general consensus across the literature of a positive relationship between sense of community and well‐being among both youth and adults in a variety of settings, and discusses the strengths and limitations of this area of research, pointing to the need for more nuanced, ecologically valid research that incorporates more qualitative and critical methodologies. We hope that this review can promote a more thorough understanding of how sense of community and individual well‐being relate to each other, and that ongoing research in this area can be a catalyst for action research and interventions that are applied to pressing contemporary issues as well as strengths‐based approaches focused on how to foster and support the well‐being of individuals within their community contexts.
C3 inhibition with pegcetacoplan in subjects with paroxysmal nocturnal hemoglobinuria treated with eculizumab
Authors: de Castro Carlos , Grossi Federico , Weitz Ilene Ceil , Maciejewski Jaroslaw , Sharma Vivek , Roman Eloy , Brodsky Robert A. , Tan Lisa , Di Casoli Carl , El Mehdi Delphine , Deschatelets Pascal , Francois Cedric 
Published: August 2020

AbstractParoxysmal nocturnal hemoglobinuria (PNH) is an acquired, life‐threatening hematologic disease characterized by chronic complement‐mediated hemolysis and thrombosis. Despite treatment with eculizumab, a C5 inhibitor, 72% of individuals remain anemic. Pegcetacoplan (APL‐2), a PEGylated C3 inhibitor, has the potential to provide more complete hemolysis control in patients with PNH. This open‐label, phase Ib study was designed to assess the safety, tolerability, and pharmacokinetics of pegcetacoplan in subjects with PNH who remained anemic during treatment with eculizumab. Pharmacodynamic endpoints were also assessed as an exploratory objective of this study. Data are presented for six subjects in cohort 4 who received treatment for up to 2 years. In total, 427 treatment‐emergent adverse events (TEAEs) were reported, 68 of which were possibly related to the study drug. Eight serious TEAEs occurred in two subjects; three of these events were considered possibly related to the study drug. Pegcetacoplan pharmacokinetic concentrations accumulated with repeated dosing, and steady state was reached at approximately 6‐8 weeks. Lactate dehydrogenase levels were well controlled by eculizumab at baseline. Pegcetacoplan increased hemoglobin levels and decreased both reticulocyte count and total bilirubin in all six subjects. Improvements were observed in Functional Assessment of Chronic Illness Therapy Fatigue scores. Two subjects discontinued for reasons unrelated to pegcetacoplan. All four subjects who completed the study transitioned to pegcetacoplan monotherapy following eculizumab discontinuation and avoided transfusions. In this small study, pegcetacoplan therapy was generally well‐tolerated, and resulted in an improved hematological response by achieving broad hemolysis control, enabling eculizumab discontinuation.
Thrombosis in COVID‐19
Authors: Hanff Thomas C. , Mohareb Amir M. , Giri Jay , Cohen Jordana B. , Chirinos Julio A. 
Published: August 2020

AbstractThrombotic complications are frequent in COVID‐19 and contribute significantly to mortality and morbidity. We review several mechanisms of hypercoagulability in sepsis that may be upregulated in COVID‐19. These include immune‐mediated thrombotic mechanisms, complement activation, macrophage activation syndrome, antiphospholipid antibody syndrome, hyperferritinemia, and renin‐angiotensin system dysregulation. We highlight biomarkers within each pathway with potential prognostic value in COVID‐19. Lastly, recent observational studies have evaluated a role for the expanded use of therapeutic anticoagulation in COVID‐19. We review strengths and weaknesses of these studies, and we also discuss the hypothetical benefit and anticipated challenges of fibrinolytic therapy in COVID‐19.
NK cell alloreactivity in acute myeloid leukemia in the post‐transplant cyclophosphamide era
Authors: Van Elssen Catharina H. M. J. , Ciurea Stefan O. 
Published: August 2020

AbstractAllogeneic hematopoietic stem cell transplantation (alloSCT) for myeloid leukemia remains one of the most effective anti‐tumor treatments available, capable of curing an increasingly higher proportion of patients. Alloreactivity generated by T cells has limited efficacy in the early post‐transplant period while most patients will relapse within 6 months after transplantation. Prior studies in T cell depleted grafts showed that, with the elimination of T cells, natural killer (NK) cells provide most of the anti‐tumor effect in the early post‐transplant period. Administration of unmodified T cells to mitigate infections and relapse will expose the patient to a high risk of graft‐vs‐host disease (GvHD). Post‐transplant cyclophosphamide (PTCy), initially used for haploidentical (haplo) donor transplants, is now also increasingly utilized in HLA matched donor transplants to prevent GvHD. In most patients, PTCy eliminates, at least in part, alloreactive T and NK cells early post‐transplant. Administration of modified NK cells in the early post‐transplant period makes intuitive sense to enhance the anti‐tumor effect of the graft and thereby prevent relapse. Effective application of cellular therapy early after transplant has opened a new direction and could revolutionize the field of hematopoietic stem cell transplantation.
Trichothiodystrophy type 4 in an Indian family
Authors: Pande Shruti , Shukla Anju , Girisha Katta Mohan 
Published: August 2020

AbstractTrichothiodystrophy, non‐photosensitive type 4 (TTD4), is a rare genetic disorder with an autosomal recessive mode of inheritance. It is characterized by coarse and brittle hair, anomalies of the tissues derived from the neuro‐ectoderm (skin, hair, and nails) and intellectual disability. We herein report two male siblings aged 13 and 16 years with TTD4 and a known homozygous pathogenic variant, c.229del [p.(Arg77Glyfs*76)] in exon 1 of MPLKIP (NM_138701.3). We herein highlight the clinical and molecular findings of the first reported case of TTD4 in probands of Indian ethnicity.
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Authors: Andelman‐Gur Michal M. , Leventer Richard J , Hujirat Mohammad , Ganos Christos , Yosovich Keren , Carmi Nirit , Lev Dorit , Nissenkorn Andreea , Dobyns William B. , Bhatia Kailash , Lerman‐Sagie Tally , Blumkin Lubov 
Published: August 2020

AbstractThe clinical presentation of bilateral perisylvian polymicrogyria (PMG) is highly variable, including oromotor dysfunction, epilepsy, intellectual disability, and pyramidal signs. Extrapyramidal features are extremely rare. We present four apparently unrelated patients with a unique association of PMG with dystonia. The clinical, genetic, and radiologic features are described and possible mechanisms of dystonia are discussed. All patients were female and two were born to consanguineous families. All presented with early childhood onset dystonia. Other neurologic symptoms and signs classically seen in bilateral perisylvian PMG were observed, including oromotor dysfunction and speech abnormalities ranging from dysarthria to anarthria (4/4), pyramidal signs (3/4), hypotonia (3/4), postnatal microcephaly (1/4), and seizures (1/4). Neuroimaging showed a unique pattern of bilateral PMG with an infolded cortex originating primarily from the perisylvian region in three out of four patients. Whole exome sequencing was performed in two out of four patients and did not reveal pathogenic variants in known genes for cortical malformations or movement disorders. The dystonia seen in our patients is not described in bilateral PMG and suggests an underlying mechanism of impaired connectivity within the motor network or compromised cortical inhibition. The association of bilateral PMG with dystonia in our patients may represent a new neurogenetic disorder.
Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review
Authors: Grondin Steffany , Wazirian Avedis‐Christ , Jorda Paloma , Terrone Donato G. , Gagnon Johannie , Robb Laura , Amyot Julie , Rivard Lena , Pagé Sylvain , Talajic Mario , Cadrin‐Tourigny Julia , Tadros Rafik 
Published: August 2020

AbstractRare loss of function variants in DSP, which codes for the desmosomal protein desmoplakin, have been implicated in dilated and arrhythmogenic right ventricular cardiomyopathies. We present a family with arrhythmogenic cardiomyopathy associated with a novel missense variant in DSP (NM_004415.4): c.877G>A, p.(Glu293Lys). The phenotype is characterized by predominant involvement of the left ventricle with systolic dysfunction, fibrosis, and life‐threatening arrhythmias. We performed a systematic review of literature collecting all cardiomyopathy cases with rare missense variants in DSP. We demonstrate that the distribution of missense variants across the protein domains in cardiomyopathy cases differs from that in gnomAD (p = .04), with a case enrichment of rare missense variants in the spectrin repeat domain (36/78 [46%] in cases vs. 449/1495 [30%] in gnomAD; p = .004). Our findings highlight the predominance of cardiac arrhythmia and left ventricular involvement in desmoplakin cardiomyopathy and pinpoint to a potential mutation hotspot in DSP thereby facilitating missense variant interpretation in the diagnostic setting.
Why does age of onset predict clinical severity in schizophrenia? A multiplex extended pedigree study
Authors: Musket Christie W. , Kuo Susan S. , Rupert Petra E. , Almasy Laura , Gur Ruben C. , Prasad Konasale , Wood Joel , Roalf David R. , Gur Raquel E. , Nimgaonkar Vishwajit L. , Pogue‐Geile Michael F. 
Published: August 2020

AbstractSchizophrenia has substantial variation in symptom severity, course of illness, and overall functioning. Earlier age of onset (AOO) is consistently associated with negative outcomes and yet the causes of this association are still unknown. We used a multiplex, extended pedigree design (total N = 771; 636 relatives from 43 multigenerational families with at least 2 relatives diagnosed with schizophrenia and 135 matched controls) to examine among the schizophrenia relatives (N = 103) the relationship between AOO and negative and positive symptom severity, cognition, and community functioning. Most importantly, we assessed whether there are shared genetic effects between AOO and negative symptoms, positive symptoms, cognition, and community functioning. As expected, earlier AOO was significantly correlated with increased severity of negative and positive symptoms and poorer cognition and community functioning among schizophrenia patients. Notably, the genetic correlation between AOO of schizophrenia and negative symptoms was significant (Rg = −1.00, p = .007). Although the genetic correlations between AOO and positive symptoms, cognition, and community functioning were estimated at maximum and in the predicted direction, they were not statistically significant. AOO of schizophrenia itself was modestly heritable, although not significant and negative symptoms, positive symptoms, and cognition were all strongly and significantly heritable. In sum, we replicated prior findings indicating that earlier AOO is associated with increased symptom severity and extended the literature by detecting shared genetic effects between AOO and negative symptoms, suggestive of pleiotropy.
De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A
Authors: Banne Ehud , Falik‐Zaccai Tzipora , Brielle Esther , Kalfon Limor , Ladany Hagay , Klinger Danielle , Schneidman‐Duhovny Dina , Linial Michal 
Published: August 2020

AbstractSTXBP1, also known as Munc‐18, is a master regulator of neurotransmitter release and synaptic function in the human brain through its direct interaction with syntaxin 1A. STXBP1 binds syntaxin 1A is an inactive conformational state. STXBP1 decreases its binding affinity to syntaxin upon phosphorylation, enabling syntaxin 1A to engage in the SNARE complex, leading to neurotransmitter release. STXBP1‐related disorders are well characterized by encephalopathy with epilepsy, and a diverse range of neurological and neurodevelopmental conditions. Through exome sequencing of a child with developmental delay, hypotonia, and spasticity, we found a novel de novo insertion mutation of three nucleotides in the STXBP1 coding region, resulting in an additional arginine after position 39 (R39dup). Inconclusive results from state‐of‐the‐art variant prediction tools mandated a structure‐based approach using molecular dynamics (MD) simulations of the STXBP1–syntaxin 1A complex. Comparison of the interaction interfaces of the wild‐type and the R39dup complexes revealed a reduced interaction surface area in the mutant, leading to destabilization of the protein complex. Moreover, the decrease in affinity toward syntaxin 1A is similar for the phosphorylated STXBP1 and the R39dup. We applied the same MD methodology to seven additional previously reported STXBP1 mutations and reveal that the stability of the STXBP1–syntaxin 1A interface correlates with the reported clinical phenotypes. This study provides a direct link between the outcome of a novel variant in STXBP1 and protein structure and dynamics. The structural change upon mutation drives an alteration in synaptic function.
Molecular and phenotypic investigation of a New Zealand cohort of childhood‐onset retinal dystrophy
Authors: Hull Sarah , Kiray Gulunay , Chiang John Pei‐Wen , Vincent Andrea L. 
Published: August 2020

AbstractInherited retinal diseases are clinically heterogeneous and are associated with nearly 300 different genes. In this retrospective, observational study of a consecutive cohort of 159 patients (134 families) with childhood‐onset (<16 years of age) retinal dystrophy, molecular investigations, and in‐depth phenotyping were performed to determine key clinical and molecular characteristics. The most common ocular phenotype was rod‐cone dystrophy in 40 patients. Leber Congenital Amaurosis, the most severe form of retinal dystrophy, was present in 10 patients, and early onset severe retinal dystrophy in 22 patients. Analysis has so far identified 131 pathogenic or likely pathogenic variants including 22 novel variants. Molecular diagnosis was achieved in 112 of 134 families (83.6%) by NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families. An additional nine variants of uncertain significance were also found including three novel variants. Variants in 36 genes have been identified with the most common being ABCA4 retinopathy in 36 families. Five sporadic retinal dystrophy patients were found to have variants in dominant and X‐linked genes (CRX, RHO, RP2, and RPGR) resulting in more accurate genetic counseling of inheritance for these families. Variants in syndromic associated genes including ALMS1, SDCCAG8, and PPT1 were identified in eight families enabling directed systemic care.
Age‐related site‐specific modifications in diaphyseal structural properties of the human fibula: Furrows and cross‐sectional geometry
Authors: Chevalier Tony , Tignères Manon 
Published: August 2020

AbstractObjectivesFibular structure is related to locomotor behavior, which allows an exploration of mobility in past human populations with diaphyseal cross‐sectional geometry (CSG). However, bone structure depends on age‐related changes. Nonmechanical alterations can affect biomechanical investigations. In this study, we examined how the cortical area and the variables used as functional markers in the fibular diaphysis (i.e., CSG and furrows) change with aging. We predict classic and specific modifications, and we discuss functional interpretations based on bone structure.Materials and methodsThe sample consisted of 124 individuals of known age in whom the fibular furrow depths were measured with calipers. Microcomputed tomography (micro‐CT) scanning of 38 individuals provided CSG (e.g., cortical area, shape index, and robusticity) and fibular furrow indices. CSG was studied at five cross sections taken along the diaphysis. Linear regression analyses and age group comparisons were conducted.ResultsThe cross‐sectional shape summary by fibular furrows and shape index and the total area did not change with aging; in contrast, the cortical area and the robusticity (Zp‐std) decreased with age.DiscussionThe decrease in robusticity (Zp‐std) with aging is due to the maintenance of total area, which is related to the specific mechanical environment of the fibula, and to the loss of cortical bone and not to the decrease in mechanical stress. This finding is consistent with the lower bone modeling capacity in aged individuals, which also explains the lack of significant changes in the diaphyseal shape. Thus, fibular structure in older individuals is due to a combination of early bone adaptations to stress and aging effects.