bluuebunny/crossref_metadata_2025_split huggingface dataset:
Direct oral anticoagulants for atrial fibrillation in patients with congenital factor VII deficiency
Authors: Arletti Laura , Coluccio Valeria , Romagnoli Elisa , Luppi Mario , Marietta Marco 
Published: May 2019

AbstractThe management of anticoagulant therapy (OAT) in patients with factor VII (FVII) deficiency is a very challenging clinical issue, as warfarin further reduces FVII levels, thus potentially increasing bleeding risk. On the other hand, the International Normalized Ratio test is misleading in such patients, as they do not reflect the actual level of global inhibition of the coagulation system. We report here three cases of patients with a moderate FVII deficiency and receiving direct oral anticoagulants (DOAC) for prevention of cardioembolism in atrial fibrillation. Of note, two of them experienced a treatment failure while on warfarin, while DOAC treatment was not associated with thrombotic or hemorrhagic adverse events. DOAC are very attractive for the management of OAT in FVII deficient patients, because they do not require monitoring by tests affected by the inherited defect, and their mechanism of action is FVII‐independent.
Unlocking the potential of ancient fish DNA in the genomic era
Authors: Oosting Tom , Star Bastiaan , Barrett James H. , Wellenreuther Maren , Ritchie Peter A. , Rawlence Nicolas J. 
Published: May 2019

AbstractFish are the most diverse group of vertebrates, fulfil important ecological functions and are of significant economic interest for aquaculture and wild fisheries. Advances in DNA extraction methods, sequencing technologies and bioinformatic applications have advanced genomic research for nonmodel organisms, allowing the field of fish ancient DNA (aDNA) to move into the genomics era. This move is enabling researchers to investigate a multitude of new questions in evolutionary ecology that could not, until now, be addressed. In many cases, these new fields of research have relevance to evolutionary applications, such as the sustainable management of fisheries resources and the conservation of aquatic animals. Here, we focus on the application of fish aDNA to (a) highlight new research questions, (b) outline methodological advances and current challenges, (c) discuss how our understanding of fish ecology and evolution can benefit from aDNA applications and (d) provide a future perspective on how the field will help answer key questions in conservation and management. We conclude that the power of fish aDNA will be unlocked through the application of continually improving genomic resources and methods to well‐chosen taxonomic groups represented by well‐dated archaeological samples that can provide temporally and/or spatially extensive data sets.
Climate and plant trait strategies determine tree carbon allocation to leaves and mediate future forest productivity
Authors: Trugman Anna T. , Anderegg Leander D. L. , Wolfe Brett T. , Birami Benjamin , Ruehr Nadine K. , Detto Matteo , Bartlett Megan K. , Anderegg William R. L. 
Published: May 2019

AbstractForest leaf area has enormous leverage on the carbon cycle because it mediates both forest productivity and resilience to climate extremes. Despite widespread evidence that trees are capable of adjusting to changes in environment across both space and time through modifying carbon allocation to leaves, many vegetation models use fixed carbon allocation schemes independent of environment, which introduces large uncertainties into predictions of future forest responses to atmospheric CO2 fertilization and anthropogenic climate change. Here, we develop an optimization‐based model, whereby tree carbon allocation to leaves is an emergent property of environment and plant hydraulic traits. Using a combination of meta‐analysis, observational datasets, and model predictions, we find strong evidence that optimal hydraulic–carbon coupling explains observed patterns in leaf allocation across large environmental and CO2 concentration gradients. Furthermore, testing the sensitivity of leaf allocation strategy to a diversity in hydraulic and economic spectrum physiological traits, we show that plant hydraulic traits in particular have an enormous impact on the global change response of forest leaf area. Our results provide a rigorous theoretical underpinning for improving carbon cycle predictions through advancing model predictions of leaf area, and underscore that tree‐level carbon allocation to leaves should be derived from first principles using mechanistic plant hydraulic processes in the next generation of vegetation models.
Pregnancy, Birth, Neonatal, and Postnatal Neurological Outcomes After Pregnancy With Migraine
Authors: Skajaa Nils , Szépligeti Szimonetta K. , Xue Fei , Sørensen Henrik Toft , Ehrenstein Vera , Eisele Osa , Adelborg Kasper 
Published: May 2019

BackgroundPrevalence of migraine is high during the reproductive age. Although migraine often improves during pregnancy, the risk of adverse pregnancy, birth, neonatal, and neurological outcomes in mother and offspring remains poorly understood.ObjectiveTo investigate the associations between maternal migraine and risks of adverse pregnancy outcomes in the mother, and birth, neonatal and postnatal outcomes in the offspring.MethodsWe used Danish population registries to assemble a cohort of pregnancies among women with migraine and an age‐ and conception year‐matched comparison cohort of pregnancies among women without migraine. The study period was 2005‐2012. We computed adjusted prevalence ratios (aPRs) for pregnancy and birth outcomes and adjusted risk ratios (aRRs) for neonatal and postnatal outcomes, adjusting for age, preconception medical history, and preconception reproductive history.ResultsWe identified 22,841 pregnancies among women with migraine and 228,324 matched pregnancies among women without migraine. Migraine was associated with an increased risk of pregnancy‐associated hypertension disorders (aPR: 1.50 [95% confidence interval (CI): 1.39‐1.61]) and miscarriage (aPR: 1.10 [95% CI: 1.05‐1.15]). Migraine was associated with an increased prevalence of low birth weight (aPR: 1.14 [95% CI: 1.06‐1.23]), preterm birth (aPR: 1.21 [95% CI: 1.13‐1.30]) and cesarean delivery (aPR: 1.20 [95% CI: 1.15‐1.25]), but not of small for gestational age offspring (aPR: 0.94 [95% CI: 0.88‐0.99]) and birth defects (aPR: 1.01 [95% CI: 0.93‐1.09]). Offspring prenatally exposed to maternal migraine had elevated risks of several outcomes in the neonatal and postnatal period, including intensive care unit admission (aRR: 1.22 [95% CI: 1.03‐1.45]), hospitalization (aRR: 1.12 [95% CI: 1.06‐1.18]), dispensed prescriptions (aRR: 1.34 [95% CI: 1.24‐1.45]), respiratory distress syndrome (aRR: 1.20 [95% CI: 1.02‐1.42]), and febrile seizures (aRR: 1.27 [95% CI: 1.03‐1.57), but not of death (aRR: 0.67 [95% CI: 0.43‐1.04]) and cerebral palsy (aRR: 1.00 [95% CI: 0.51‐1.94]).ConclusionsWomen with migraine and their offspring have greater risks of several adverse pregnancy outcomes than women without migraine.
An update on laboratory assessment for direct oral anticoagulants (DOACs)
Authors: Gosselin Robert C. , Adcock Dorothy M. , Douxfils Jonathan 
Published: May 2019

AbstractThe first direct oral anticoagulant (DOAC) to be approved for clinical use was dabigatran, a direct thrombin inhibitor, in 2010. Since that time, four additional DOACs, all direct anti‐Xa inhibitors, have been approved, including rivaroxaban, apixaban, edoxaban and betrixaban. Our knowledge about the effect of DOACs on laboratory testing, as well as the use of the laboratory for measuring DOACs has been an evolving process. These drugs are not routinely monitored in the same fashion as coumadin, but there is an increasing demand on the laboratory to have the capacity to adequately assess DOAC anticoagulant effect (pharmacodynamics) or levels (pharmacokinetics) in either emergent or the routine situations. This manuscript provides an update on laboratory guidance and progress of methods for measuring DOACs.
Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia
Authors: Galera Pallavi , Dulau‐Florea Alina , Calvo Katherine R. 
Published: May 2019

AbstractAdvances in molecular genetic sequencing techniques have contributed to the elucidation of previously unknown germline mutations responsible for inherited thrombocytopenia (IT). Regardless of age of presentation and severity of symptoms related to thrombocytopenia and/or platelet dysfunction, a subset of patients with IT are at increased risk of developing myeloid neoplasms during their life time, particularly those with germline autosomal dominant mutations in RUNX1, ANKRD26, and ETV6. Patients may present with isolated thrombocytopenia and megakaryocytic dysmorphia or atypia on baseline bone marrow evaluation, without constituting myelodysplasia (MDS). Bone marrow features may overlap with idiopathic thrombocytopenic purpura (ITP) or sporadic MDS leading to misdiagnosis. Progression to myelodysplastic syndrome/ acute myeloid leukemia (MDS/AML) may be accompanied by progressive bi‐ or pancytopenia, multilineage dysplasia, increased blasts, cytogenetic abnormalities, acquisition of bi‐allelic mutations in the underlying gene with germline mutation, or additional somatic mutations in genes associated with myeloid malignancy. A subset of patients may present with MDS/AML at a young age, underscoring the growing concern for evaluating young patients with MDS/AML for germline mutations predisposing to myeloid neoplasm. Early recognition of germline mutation and predisposition to myeloid malignancy permits appropriate treatment, adequate monitoring for disease progression, proper donor selection for hematopoietic stem cell transplantation, as well as genetic counseling of the affected patients and their family members. Herein, we describe the clinical and diagnostic features of IT with germline mutations predisposing to myeloid neoplasms focusing on mutations involving RUNX1, ANKRD26, and ETV6.
Pre‐ and postanalytical errors in haematology
Authors: De la Salle Barbara 
Published: May 2019

AbstractThe majority of errors in laboratory medicine occur in the pre‐ and postanalytical phases of the testing process. Although the causes of these errors are largely common to all laboratory medicine specialties, it is important for the haematology laboratory to understand the particular impact of some on automated counting. The preanalytical phase is the stage of greatest risk but preanalytical errors may go undetected until postanalytical validation and interpretation. The challenges in the postanalytical phase include the standardisation of reference intervals against which results can be interpreted and the impact of just a small difference in reference interval for a key analyte such as haemoglobin concentration. Quality indicators against which pre‐ and postanalytical error incidence are measured are a source of information that can be used to improve services but laboratories struggle to collect good quality data.
Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia
Authors: Rets Anton , Clayton Adam L. , Christensen Robert D. , Agarwal Archana M. 
Published: May 2019

AbstractHereditary hemolytic anemia (HHA) is a group of genetically and phenotypically heterogeneous disorders characterized by premature destruction of red blood cells (RBCs) with clinical manifestations ranging from asymptomatic to marked hemolytic anemia. There are three main categories of HHA: (a) RBC membrane defects; (b) hemoglobinopathies/thalassemias; and (c) RBC enzyme deficiencies. Hyperbilirubinemia is a frequent consequence of hemolytic anemia and can lead to bilirubin‐associated neurotoxicity in neonates and to jaundice, and formation of gall stones in adults. Hyperbilirubinemia can also be caused by impaired bilirubin conjugation due to polymorphisms and mutations in genes involved in bilirubin metabolism (eg, UGT1A1). Neonates with HHA and co‐inherited variants impairing bilirubin conjugation are at increased risk of bilirubin‐associated toxicity. Prior to the advent of next‐generation sequencing (NGS), molecular diagnosis of these disorders was limited to targeted single gene Sanger sequencing. However, NGS is making its way into the standard diagnostic workup of complex and multigene disorders like HHA. This review will focus on the molecular updates of HHA with particular focus on the neonatal and pediatric population.
Algorithmic evaluation of hereditary erythrocytosis: Pathways and caveats
Authors: Oliveira Jennifer L. 
Published: May 2019

AbstractMultiple algorithms have been published for the evaluation of hereditary erythrocytosis (HE). Typical entry points begin after excluding the more common acquired conditions through investigations of clinical history and assessment of cardiac, pulmonary, or vascular system disorders. Prior exclusion of JAK2 mutations, particularly the common JAK2 V617F mutation, is indicated in adults but less so in pediatric populations. Key decision trees are based on serum erythropoietin levels and p50 results. Recent data reveal some overlap in clinical presentation and laboratory findings in erythrocytosis. Caveats to consider when using algorithmic approaches are discussed.
Genomic testing in myeloid malignancy
Authors: Docking T. Roderick , Karsan Aly 
Published: May 2019

AbstractClinical genetic testing in the myeloid malignancies is undergoing a rapid transition from the era of cytogenetics and single‐gene testing to an era dominated by next‐generation sequencing (NGS). This transition promises to better reveal the genetic alterations underlying disease, but there are distinct risks and benefits associated with different NGS testing platforms. NGS offers the potential benefit of being able to survey alterations across a wider set of genes, but analytic and clinical challenges associated with incidental findings, germ line variation, turnaround time, and limits of detection must be addressed. Additionally, transcriptome‐based testing may offer several distinct benefits beyond traditional DNA‐based methods. In addition to testing at disease diagnosis, research indicates potential benefits of genetic testing both prior to disease onset and at remission. In this review, we discuss the transition from the era of cytogenetics and single‐gene tests to the era of NGS panels and genome‐wide sequencing—highlighting both the potential and drawbacks of these novel technologies.
Molecular genetic testing methodologies in hematopoietic diseases: current and future methods
Authors: Sridhar Kaushik , Singh Amol , Butzmann Alexandra , Jangam Diwash , Ohgami Robert S. 
Published: May 2019

AbstractIntroductionRapid technological advancements in clinical molecular genetics have increased our diagnostic and prognostic capabilities in health care. Understanding these assays, as well as how they may change over time, is critical for pathologists, clinicians, and translational researchers alike.MethodsThis review provides a practical summary and basic reference for current molecular genetic technologies, as well as new testing methodologies that are in use, gaining momentum, or anticipated to contribute more broadly in the future.ResultsHere, we discuss DNA and RNA based methodologies including classic assays such as the polymerase chain reaction (PCR), Sanger sequencing, and microarrays, to more cutting‐edge next‐generation sequencing (NGS) based assays and emerging molecular technologies such as cell‐free DNA (cfDNA) or circulating tumor DNA (ctDNA), and NGS‐based detection of infectious disease organisms.ConclusionThis review serves as a basic foundation for knowledge in current and emerging clinical molecular genetic technologies.
Mixed methods quality evaluation of structured interprofessional medical ward rounds
Authors: Redley Bernice , Campbell Don , Stockman Keith , Barnes Sara 
Published: May 2019

AbstractBackgroundStandardised structure and content of interdisciplinary medical ward rounds can promote patient safety and patient‐centred teamwork.AimsTo evaluate interdisciplinary ward rounds using a Structured Interdisciplinary Bedside Rounding (SIBR) intervention.MethodsThe study involved multi‐method, repeat measures with a non‐equivalent control group. Non‐participant observations were collected at: 1 and 6 months, on an intervention ward that introduced SIBR; and a control ward that continued traditional rounds. Focus group and survey data were also collected on the intervention ward. Participants were clinicians (medicine, nursing and allied health) working in two general medicine wards at a tertiary hospital in Melbourne, Australia.ResultsSeventy‐eight patient rounds were observed at Time 1, and 239 at Time 2. The SIBR ward rounds had all clinician disciplines represented, whereas allied health and nurses were present for less than 20% of non‐SIBR rounds. Interdisciplinary participation and frequency of desired clinician behaviours increased, and variability in duration of time per patient decreased, on the SIBR rounds. Longitudinal data reflected decreased performance of some SIBR behaviours in the intervention ward, while some desired behaviours increased in the control ward. Qualitative survey and focus group data indicated many positive views, but fit with broader ward routines impacted SIBR implementation.ConclusionsThe overall recommendation by staff was that SIBR should continue. The results provide insights into the adoption of SIBR behaviours and illustrated diffusion of behaviours across wards. Highlighting successes and identifying barriers can help meet challenges for ongoing improvement.
The anonymous online self: Toward an understanding of the tension between discipline and online anonymity
Authors: Guo Ken H. , Yu Xiaoxiao 
Published: May 2019

AbstractWe aim to have a nuanced understanding of the seemingly antithetical tension between discipline and anonymity in online settings. Using a rich set of qualitative data from a real‐life online forum, we find that anonymity does not necessarily eliminate discipline. Three forms of discursive discipline appear under conditions of anonymity: technological discipline, peer discipline, and self‐discipline. Thus, the online forum may be seen as an omniopticon in which the anonymous online self is monitored and disciplined in multiple ways. Information technology both enables and constrains how individuals balance the competing needs of anonymity and discipline. We suggest new ways of looking at the literature on discipline and anonymity in online environments and at the role played by technology.
Coronary circulating mononuclear progenitor cells and soluble biomarkers in the cardiovascular prognosis after coronary angioplasty
Authors: Suárez‐Cuenca Juan Antonio , Robledo‐Nolasco Rogelio , Alcántara‐Meléndez Marco Antonio , Díaz Hernández Luis Javier , Vera‐Gómez Eduardo , Hernández‐Patricio Alejandro , Sánchez‐Díaz Karla Susana , Buendía‐Gutiérrez Juan Ariel , Contreras‐Ramos Alejandra , Ruíz‐Hernández Atzin Suá , Pérez‐Cabeza de Vaca Rebeca , Mondragón‐Terán Paul 
Published: May 2019

AbstractCurrently, there are no confident prognostic markers in patients with coronary artery disease (CAD) undergoing angioplasty. The present study aimed to explore whether basal coronary circulating Mononuclear Progenitor Cells (MPCs) and vascular injury biomarkers were related to development of major adverse cardiovascular events (MACEs) and may impact clinical prognosis.MethodsThe number of MPCs and soluble mediators such as IL‐1β, sICAM‐1, MMP‐9, malondialdehyde, superoxide dismutase and nitric oxide were determined in coronary and peripheral circulation. Prognostic ability for MACEs occurring at 6 months follow up was assessed by time‐to‐event and event free survival estimations.ResultsLower coronary circulating MPCs subpopulations CD45+CD34+, CD45+CD34+CD133+CD184+, lower MMP‐9 and higher sICAM‐1 significantly associated with MACEs presentation and showed prognostic ability; while peripheral blood increase in malondialdehyde and decreased superoxide dismutase were observed in patients with MACEs.ConclusionCoronary concentration of biomarkers related with vascular repair, such as MPCs subpopulations and adhesion molecules, may predict MACEs and impact prognosis in patients with CAD undergoing angioplasty; whereas peripheral pro‐oxidative condition may be also associated.
Efficacy of Er:YAG laser on periodontitis as an adjunctive non‐surgical treatment: A split‐mouth randomized controlled study
Authors: Zhou Xuan , Lin Mei , Zhang Dongxue , Song Yiqing , Wang Zuomin 
Published: May 2019

AbstractAimTo evaluate the adjunctive efficacy of Er:YAG laser use with mechanical scaling and root planing (SRP) for non‐surgical treatment of periodontitis.Materials and MethodsIn a randomized, single‐blinded, controlled trial, 27 patients were recruited. Using a split‐mouth design, two quadrants were randomly allocated into either a test group or a control group. The test quadrants received Er:YAG laser (ERL; 100 mJ/pulse; 15 Hz to hard tissue and 50 mJ/pulse; 30 Hz to soft tissue) plus SRP treatment, while the control quadrants received SRP only. We evaluated periodontal indexes, including probing depth (PD), clinical attachment level (CAL), bleeding index (BI), and plaque index (PLI) at baseline, 3 months, and 6 months.ResultsThe PD and CAL means in the ERL + SRP group were significantly lower than those in the SRP group at 3‐month follow‐up (PD: 2.98 ± 0.38 mm vs. 3.09 ± 0.35 mm; CAL: 4.51 ± 0.69 mm vs. 4.72 ± 0.67 mm) and 6‐month follow‐up (PD: 2.91 ± 0.31 mm vs. 3.02 ± 0.30 mm; CAL: 4.52 ± 0.65 mm vs. 4.72 ± 0.66 mm; p = 0.03 for both PD and CAL). There were no significant differences in BI and PLI between two groups.ConclusionsThe Er:YAG laser treatment combined with conventional SRP significantly improved PD and CAL compared to SRP therapy alone; however, these differences were very small and, as a result, the adjunctive effect of Er:YAG laser is likely to be minimal clinically important.
Analysis of medical malpractice claims to improve quality of care: Cautionary remarks
Authors: Garon‐Sayegh Patrick 
Published: May 2019

AbstractMedical malpractice claims can be analysed to gain insights aimed at improving quality of care. However, using medical malpractice claims in medical research raises epistemological and methodological concerns related to certain features of the litigation process. Medical research should therefore approach medical malpractice claims with caution. Taking one recent study as a an example, this article insists on three areas of concern: (a) the quantity of legal materials available for analysis; (b) the content of the legal materials available for analysis; and (c) the ways in which the content of the legal materials should be analysed and the types of inferences that it can support. The article concludes with general recommendations for future medical research that would incorporate medical malpractice claims. These recommendations centre around recognizing the qualitative dimension of legal reasoning.