disease understanding
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2021 ◽  
Author(s):  
Benjamin J Lengerich ◽  
Mark E. Nunnally ◽  
Yin J Aphinyanaphongs ◽  
Rich Caruana

Treatment protocols, treatment availability, disease understanding, and viral characteristics have changed over the course of the Covid-19 pandemic; as a result, the risks associated with patient comorbidities and biomarkers have also changed. We add to the ongoing conversation regarding inflammation, hemostasis and vascular function in Covid-19 by performing a time-varying observational analysis of over 4000 patients hospitalized for Covid-19 in a New York City hospital system from March 2020 to August 2021 to elucidate the changing impact of thrombosis, inflammation, and other risk factors on in-hospital mortality. We find that the predictive power of biomarkers of thrombosis risk have increased over time, suggesting an opportunity for improved care by identifying and targeting therapies for patients with elevated thrombophilic propensity.


Hematology ◽  
2021 ◽  
Vol 2021 (1) ◽  
pp. 24-29
Author(s):  
Lindsay Wilde ◽  
Margaret Kasner

Abstract A relative wealth of new therapies for acute myeloid leukemia (AML) have led to a rapid shift in treatment paradigms for this disease. Understanding whom, when, and how to treat is more complex than ever before. Here we explore whom to treat with these available new therapies, focusing on special patient populations that include older adults, those with relapsed disease, and those with TP53-mutated AML. These high-risk subgroups are some of the most challenging to care for, but novel treatments are providing them with new hope.


Hematology ◽  
2021 ◽  
Vol 2021 (1) ◽  
pp. 174-180
Author(s):  
Julie Kanter ◽  
Corey Falcon

Abstract The landscape of sickle cell disease (SCD) treatment continues to evolve rapidly, with new disease-modifying therapies in development and potentially curative options on the horizon. Until recently, allogeneic stem cell transplant has been the only proven cure for SCD. Gene therapy is rising to the forefront of the discussion as a potentially curative or highly disease- modifying option for abating the complications of the disease. Understanding the different types of gene therapy in use, the differences in their end points, and their potential risks and benefits will be key to optimizing the long-term use of this therapy.


2021 ◽  
Vol 12 ◽  
Author(s):  
S. A. Durward-Akhurst ◽  
R. J. Schaefer ◽  
B. Grantham ◽  
W. K. Carey ◽  
J. R. Mickelson ◽  
...  

Genetic variation is a key contributor to health and disease. Understanding the link between an individual’s genotype and the corresponding phenotype is a major goal of medical genetics. Whole genome sequencing (WGS) within and across populations enables highly efficient variant discovery and elucidation of the molecular nature of virtually all genetic variation. Here, we report the largest catalog of genetic variation for the horse, a species of importance as a model for human athletic and performance related traits, using WGS of 534 horses. We show the extent of agreement between two commonly used variant callers. In data from ten target breeds that represent major breed clusters in the domestic horse, we demonstrate the distribution of variants, their allele frequencies across breeds, and identify variants that are unique to a single breed. We investigate variants with no homozygotes that may be potential embryonic lethal variants, as well as variants present in all individuals that likely represent regions of the genome with errors, poor annotation or where the reference genome carries a variant. Finally, we show regions of the genome that have higher or lower levels of genetic variation compared to the genome average. This catalog can be used for variant prioritization for important equine diseases and traits, and to provide key information about regions of the genome where the assembly and/or annotation need to be improved.


2021 ◽  
Vol 14 (12) ◽  
pp. e246274
Author(s):  
Graham Prentice ◽  
Stephen Wilson ◽  
Alexander Coupland ◽  
Stephen Bicknell

COVID-19 predominantly affects the respiratory system. As a novel disease, understanding of its management and complications continues to grow. Herein, we present a case of almost complete splenic infarction in a patient with COVID-19 pneumonia. This case highlights the need to maintain diagnostic vigilance whilst investigating secondary complications of COVID-19. It is also important to stress the high incidence of thromboembolic complications in patients with COVID-19, which may occur anywhere in the vasculature.


2021 ◽  
Vol 7 (5) ◽  
pp. 36-37
Author(s):  
Amy Brower ◽  
Kee Chan ◽  
Jennifer Taylor ◽  
Ross Wiebenga ◽  
Galata Tona ◽  
...  

Author(s):  
Rebecca Carpenter ◽  
Masum Billah ◽  
Genevieve Lyons ◽  
Md Shahjahan Siraj ◽  
Qazi Rahman ◽  
...  

Low birth weight (LBW) is associated with a higher risk of neonatal mortality and the development of adult-onset chronic disease. Understanding the ongoing contribution of maternal hemoglobin (Hgb) levels to the incidence of LBW in South Asia is crucial to achieve the World Health Assembly global nutrition target of a 30% reduction in LBW by 2025. We enrolled pregnant women from the rural Tangail District of Bangladesh in a Maternal Newborn Health Registry established under The Global Network for Women’s and Children’s Health Research. We measured the Hgb of pregnant women at enrollment and birth weights of all infants born after 20 weeks gestation. Using logistic regression to adjust for multiple potential confounders, we estimated the association between maternal Hgb and the risk of LBW. We obtained Hgb measurements and birth weights from 1,665 mother–child dyads between July 2019 and April 2020. Using trimester-specific cutoffs for anemia, 48.3% of the women were anemic and the mean (±SD) Hgb level was 10.6 (±1.24) g/dL. We identified a U-shaped relationship where the highest risk of LBW was seen at very low (< 7.0 g/dL, OR = 2.00, 95% CI = 0.43–7.01, P = 0.31) and high (> 13.0 g/dL, OR = 2.17, 95% CI = 1.01–4.38, P = 0.036) Hgb levels. The mechanisms underlying this U-shaped association may include decreased plasma expansion during pregnancy and/or iron dysregulation resulting in placental disease. Further research is needed to explain the observed U-shaped relationship, to guide iron supplementation in pregnancy and to minimize the risk of LBW outcomes.


2021 ◽  
pp. 103-122
Author(s):  
Ronald Labonté ◽  
Fran Baum ◽  
David Sanders

Poverty has long been a concern in public health with people living in poor circumstances generally suffering higher burdens of disease. Understanding the persistence of poverty, and of its impacts on health, unavoidably intersects with analyses of how inequalities arise in the distribution of income and wealth, and of the material and psychosocial resources these socioeconomic privileges accord. This chapter reviews different definitions of poverty, trends in the distribution of absolute and relative poverty, and strengths and weaknesses of the different concepts. It touches briefly on how poverty (by whatever definition) influences health, citing natural/social selection, cultural/behavioural, and materialist/structural explanations; and discusses how, in some instances, there is reverse causality with poor health worsening individual or household poverty, particularly in low-income countries suffering high disease burdens and weak health systems. The chapter then turns to a review of major theories of justice and how these argue for interventions, and the role that international human rights might play in furthering actions to reduce poverty-related health inequalities. It concludes with a short discussion of different sociopolitical approaches to poverty reduction, providing three examples of intervention policies.


RNA ◽  
2021 ◽  
pp. rna.079000.121
Author(s):  
Nina Ripin ◽  
Roy Parker

RNP granules are ubiquitous features of eukaryotic cells. Several observations argue that the formation of at least some RNP granules can be considered analogous to the formation of unfolded protein aggregates. First, unfolded protein aggregates form from the exposure of promiscuous protein interaction surfaces, while some mRNP granules form, at least in part, by promiscuous intermolecular RNA-RNA interactions due to exposed RNA surfaces when mRNAs are not engaged with ribosomes. Second, analogous to the role of protein chaperones in preventing misfolded protein aggregation, cells contain abundant “RNA chaperones” to limit inappropriate RNA-RNA interactions and prevent mRNP granule formation. Third, analogous to the role of protein aggregates in diseases, situations where RNA aggregation exceeds the capacity of RNA chaperones to disaggregate RNAs may contribute to human disease. Understanding that RNP granules can be considered as promiscuous, reversible RNA aggregation events allows insight into their composition and how cells have evolved functions for RNP granules.


Medicina ◽  
2021 ◽  
Vol 57 (10) ◽  
pp. 1043
Author(s):  
Valentina Giai ◽  
Carolina Secreto ◽  
Roberto Freilone ◽  
Patrizia Pregno

Philadelphia negative Myeloproliferative Neoplasms (MPN) are a heterogeneous group of hematopoietic stem cell diseases. MPNs show different risk grades of thrombotic complications and acute myeloid leukemia evolution. In the last couple of decades, from JAK2 mutation detection in 2005 to the newer molecular trademarks studied through next generation sequencing, we are learning to approach MPNs from a deeper perspective. Here, we intend to elucidate the important factors affecting MPN clonal advantage and the reasons why some patients progress to more aggressive disease. Understanding these mechanisms is the key to developing new treatment approaches and targeted therapies for MPN patients.


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