Publications by authors named "Weisz D"

With recent advances in quantitative high-resolution mass spectrometry (HRMS), there is growing interest in developing liquid chromatography (LC)-HRMS methods that can simultaneously quantify numerous critical impurities in a peptide or protein drug. This approach is attractive as it could reduce the total number of methods and instruments required during product development and quality control testing, while taking advantage of the technique's high specificity and sensitivity. To investigate the feasibility of this approach for peptide drugs, an LC-HRMS method was validated for the quantification of six peptide-related impurities in teriparatide, the 34-amino acid active ingredient in Forteo.

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Cartilaginous fishes (chondrichthyans: chimaeras and elasmobranchs -sharks, skates and rays) hold a key phylogenetic position to explore the origin and diversifications of jawed vertebrates. Here, we report and integrate reference genomic, transcriptomic and morphological data in the small-spotted catshark Scyliorhinus canicula to shed light on the evolution of sensory organs. We first characterise general aspects of the catshark genome, confirming the high conservation of genome organisation across cartilaginous fishes, and investigate population genomic signatures.

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Context: Knowledge gaps exist on the incidence and risk factors for developing pulmonary hypertension (PH) in preterm infants with bronchopulmonary dysplasia (BPD) and its impact on outcomes.

Objective: To systematically review and meta-analyse the incidence, risk factors and short- and long-term outcomes of BPD-PH in preterm infants.

Design: PubMed, Embase, Cochrane CENTRAL and CINAHL were searched for studies including infants<37 weeks gestational age (GA) or birth weight<2500 g with BPD-PH versus BPD-no PH from inception until 5 April 2023.

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Recent progress has seen multiple TaO polymorphs generated by different synthesis techniques. However, discrepancies arise when these polymorphs are produced in widely varying thermodynamic conditions and characterized using different techniques. This work aimed to characterize and compare TaO particles formed at high and low temperatures using nanosecond pulsed laser ablation (PLA) and continuous wave (CW) laser heating of a local area of tantalum in either air or an O atmosphere.

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Rationale: Preterm neonates needing rescue treatments with inotropes and/or inhaled nitric oxide (iNO) (acute critical illnesses, ACIs) in neonatal intensive care units (NICUs) are at high risk of mortality. While targeted neonatal echocardiography consultations (TNE) are increasingly used to guide management, its clinical impact need evaluation.

Objectives: To investigate clinical outcomes in relation to TNE utilisation during episodes of ACIs among preterm neonates.

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Objective: To examine the association between noninvasive respiratory support (NRS) or tracheal intubation (TI) during stabilization in infants born at 23-25 weeks of gestation and severe brain injury (sBI) or death, and significant neurodevelopmental impairment (sNDI).

Study Design: A retrospective cohort study of infants born at 23°-25 weeks of gestation in Canada. We compared infants successfully managed with NRS or TI during 30 minutes after birth.

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Phlebotomine sand flies are the vectors of leishmaniasis, a neglected tropical disease. High-quality reference genomes are an important tool for understanding the biology and eco-evolutionary dynamics underpinning disease epidemiology. Previous leishmaniasis vector reference sequences were limited by sequencing technologies available at the time and inadequate for high-resolution genomic inquiry.

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Article Synopsis
  • Pteronarcys californica, also known as the giant salmonfly, is the largest stonefly species in the western U.S., but its populations have significantly declined and are locally extinct in many rivers, especially in Utah, Colorado, and Montana.
  • Previous studies have looked at ecological conditions for its survival, but there's a gap in genetic research due to limited genomic resources.
  • This study presents a new, comprehensive genome assembly for P. californica, showcasing a large genome size of 2.40 gigabases and highlighting significant multi-species genomic variations and trends that could aid in understanding the species' genetics and conservation.
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Introduction: Patent ductus arteriosus (PDA) is the most common cardiovascular problem that develops in extremely preterm infants and is associated with poor clinical outcomes. Uncertainty exists on whether early pharmacotherapeutic treatment of a clinically symptomatic and echocardiography-confirmed haemodynamically significant PDA in extremely preterm infants improves outcomes. Given the wide variation in the approach to PDA treatment in this gestational age (GA) group, a randomised trial design is essential to address the question.

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Enhancers are key drivers of gene regulation thought to act via 3D physical interactions with the promoters of their target genes. However, genome-wide depletions of architectural proteins such as cohesin result in only limited changes in gene expression, despite a loss of contact domains and loops. Consequently, the role of cohesin and 3D contacts in enhancer function remains debated.

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Cartilaginous fishes (chimaeras and elasmobranchs -sharks, skates and rays) hold a key phylogenetic position to explore the origin and diversifications of jawed vertebrates. Here, we report and integrate reference genomic, transcriptomic and morphological data in the small-spotted catshark to shed light on the evolution of sensory organs. We first characterise general aspects of the catshark genome, confirming the high conservation of genome organisation across cartilaginous fishes, and investigate population genomic signatures.

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Analyses of ancient DNA typically involve sequencing the surviving short oligonucleotides and aligning to genome assemblies from related, modern species. Here, we report that skin from a female woolly mammoth (†Mammuthus primigenius) that died 52,000 years ago retained its ancient genome architecture. We use PaleoHi-C to map chromatin contacts and assemble its genome, yielding 28 chromosome-length scaffolds.

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Prediction of outcomes following a prenatal diagnosis of congenital heart disease (CHD) is challenging. Machine learning (ML) algorithms may be used to reduce clinical uncertainty and improve prognostic accuracy. We performed a pilot study to train ML algorithms to predict postnatal outcomes based on clinical data.

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Phenotypic variation among species is a product of evolutionary changes to developmental programs. However, how these changes generate novel morphological traits remains largely unclear. Here we studied the genomic and developmental basis of the mammalian gliding membrane, or patagium-an adaptative trait that has repeatedly evolved in different lineages, including in closely related marsupial species.

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Targeted neonatal echocardiography (TNE) involves the use of comprehensive echocardiography to appraise cardiovascular physiology and neonatal hemodynamics to enhance diagnostic and therapeutic precision in the neonatal intensive care unit. Since the last publication of guidelines for TNE in 2011, the field has matured through the development of formalized neonatal hemodynamics fellowships, clinical programs, and the expansion of scientific knowledge to further enhance clinical care. The most common indications for TNE include adjudication of hemodynamic significance of a patent ductus arteriosus, evaluation of acute and chronic pulmonary hypertension, evaluation of right and left ventricular systolic and/or diastolic function, and screening for pericardial effusions and/or malpositioned central catheters.

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We present a high-quality assembly and annotation of the periodical cicada species, Magicicada septendecula (Hemiptera: Auchenorrhyncha: Cicadidae). Periodical cicadas have a significant ecological impact, serving as a food source for many mammals, reptiles, and birds. Magicicada are well known for their massive emergences of 1 to 3 species that appear in different locations in the eastern United States nearly every year.

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Article Synopsis
  • * The new method, called POLAR, offers a low-cost, high-throughput way to diagnose SARS-CoV-2 by amplifying the entire viral genome, unlike traditional tests that focus on just a few locations.
  • * POLAR can accurately detect low concentrations of the virus and generate detailed genomic data to track disease spread and identify potential treatments, all while processing 192 samples in 8 hours at a low cost per patient.
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The Encyclopedia of DNA elements (ENCODE) project is a collaborative effort to create a comprehensive catalog of functional elements in the human genome. The current database comprises more than 19000 functional genomics experiments across more than 1000 cell lines and tissues using a wide array of experimental techniques to study the chromatin structure, regulatory and transcriptional landscape of the and genomes. All experimental data, metadata, and associated computational analyses created by the ENCODE consortium are submitted to the Data Coordination Center (DCC) for validation, tracking, storage, and distribution to community resources and the scientific community.

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Background/purpose: In 2014, New York City implemented the Affordable Care Act (ACA) leading to insurance coverage gains intended to reduce inequities in healthcare services use. The paper documents inequalities in coronary revascularization procedures (percutaneous coronary intervention and coronary artery bypass grafting) usage by race/ethnicity, gender, insurance type, and income before and after the implementation of the ACA.

Methods: We used data from the Healthcare Cost and Utilization Project to identify NYC patients hospitalized with the diagnosis of coronary artery disease (CAD) and/or congestive heart failure (CHF) in 2011-2013 (pre-ACA) and 2014-2017 (post-ACA).

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The black-footed ferret (Mustela nigripes) narrowly avoided extinction to become an oft-cited example of the benefits of intensive management, research, and collaboration to save a species through ex situ conservation breeding and reintroduction into its former range. However, the species remains at risk due to possible inbreeding, disease susceptibility, and multiple fertility challenges. Here, we report the de novo genome assembly of a male black-footed ferret generated through a combination of linked-read sequencing, optical mapping, and Hi-C proximity ligation.

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France's system of universal health insurance (UHI) offers more equitable access to outpatient care than the patchwork system in the U.S., which does not have a UHI system.

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The Encyclopedia of DNA elements (ENCODE) project is a collaborative effort to create a comprehensive catalog of functional elements in the human genome. The current database comprises more than 19000 functional genomics experiments across more than 1000 cell lines and tissues using a wide array of experimental techniques to study the chromatin structure, regulatory and transcriptional landscape of the and genomes. All experimental data, metadata, and associated computational analyses created by the ENCODE consortium are submitted to the Data Coordination Center (DCC) for validation, tracking, storage, and distribution to community resources and the scientific community.

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We report the first chromosome-length genome assemblies for three species in the mammalian order Pholidota: the white-bellied, Chinese, and Sunda pangolins. Surprisingly, we observe extraordinary karyotypic plasticity within this order and, in female white-bellied pangolins, the largest number of chromosomes reported in a Laurasiatherian mammal: 2n = 114. We perform the first karyotype analysis of an African pangolin and report a Y-autosome fusion in white-bellied pangolins, resulting in 2n = 113 for males.

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Background: Patent ductus arteriosus (PDA) is associated with significant morbidity and mortality in preterm infants. Several non-pharmacological, pharmacological, and surgical approaches have been explored to prevent or treat a PDA.

Objectives: To summarise Cochrane Neonatal evidence on interventions (pharmacological or surgical) for the prevention of PDA and related complications, and interventions for the management of asymptomatic and symptomatic PDA in preterm infants.

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