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Clinical Features: Sickle cell patients may develop a multitude of antibodies and experience life-threatening events with transfusion such as hyperhemolysis syndrome or delayed hemolytic transfusion reaction. Further transfusion may not be possible in such cases.

Therapeutic Challenge: When conventional blood products are not available for transfusion yet the patient requires additional oxygen-carrying support, artificial oxygen carriers may be required.

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Preserving brain health by minimizing microplastic output from resin histology.

J Histotechnol

January 2025

Mechanical Engineering, Orthopedic Bioengineering Research Laboratory, Colorado State University, Fort Collins, CO, USA.

With an increasing concentration of microplastics (MPs) in every biome, laboratories with a focus on creating histology slides from resin-embedded specimens could be partially responsible for expanding the emission of microscopic resinous particles into the environment. With current research elucidating harmful health impacts from MPs, releasing them incautiously is arguably unethical and, in the near future, plausibly illegal. The Orthopedic Bioengineering Research Laboratory (OBRL) is in Colorado, a state known not only for its natural beauty but also for its increasing number of legislative amendments aimed at reducing plastic pollution.

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Large-scale gene-environment interaction (GxE) discovery efforts often involve analytical compromises for the sake of data harmonization and statistical power. Refinement of exposures, covariates, outcomes, and population subsets may be helpful to establish often-elusive replication and evaluate potential clinical utility. Here, we used additional datasets, an expanded set of statistical models, and interrogation of lipoprotein metabolism via nuclear magnetic resonance (NMR)-based lipoprotein subfractions to refine a previously discovered GxE modifying the relationship between physical activity (PA) and HDL-cholesterol (HDL-C).

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Aim: Dynamic cancer control is a current health system priority, yet methods for achieving it are lacking. This study aims to review the application of system dynamics modeling (SDM) on cancer control and evaluate the research quality.

Methods: Articles were searched in PubMed, Web of Science, and Scopus from the inception of the study to November 15th, 2023.

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Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.

Mol Genet Genomic Med

January 2025

The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.

Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.

Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.

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