-
Current Opinion in Microbiology Aug 2019The human microbiome has now been linked with myriad diseases, yet most of this research has been conducted on American and European populations that make up only 1/6th... (Review)
Review
The human microbiome has now been linked with myriad diseases, yet most of this research has been conducted on American and European populations that make up only 1/6th of the world's population. With growing recognition that human microbiomes differ tremendously across global populations, it is especially important to understand how these compositional differences impact health outcomes. Recent advances in infectious disease and malnutrition research have demonstrated the potential for microbiome-based strategies to address the biggest challenges in global health. This review highlights major advances toward understanding microbiome diversity across the world and its contributions to disease, and outlines key questions, challenges, and opportunities to broaden the scope of and promote inclusivity within microbiome research.
Topics: Disease; Gastrointestinal Microbiome; Genetic Variation; Global Health; Host Microbial Interactions; Humans; Research
PubMed: 31683111
DOI: 10.1016/j.mib.2019.09.012 -
Nucleic Acids Research Jan 2016ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical...
ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical significance of variants for reported conditions. The database includes germline and somatic variants of any size, type or genomic location. Interpretations are submitted by clinical testing laboratories, research laboratories, locus-specific databases, OMIM®, GeneReviews™, UniProt, expert panels and practice guidelines. In NCBI's Variation submission portal, submitters upload batch submissions or use the Submission Wizard for single submissions. Each submitted interpretation is assigned an accession number prefixed with SCV. ClinVar staff review validation reports with data types such as HGVS (Human Genome Variation Society) expressions; however, clinical significance is reported directly from submitters. Interpretations are aggregated by variant-condition combination and assigned an accession number prefixed with RCV. Clinical significance is calculated for the aggregate record, indicating consensus or conflict in the submitted interpretations. ClinVar uses data standards, such as HGVS nomenclature for variants and MedGen identifiers for conditions. The data are available on the web as variant-specific views; the entire data set can be downloaded via ftp. Programmatic access for ClinVar records is available through NCBI's E-utilities. Future development includes providing a variant-centric XML archive and a web page for details of SCV submissions.
Topics: Databases, Genetic; Disease; Genes; Genetic Variation; Genome, Human; Humans
PubMed: 26582918
DOI: 10.1093/nar/gkv1222 -
CMAJ : Canadian Medical Association... May 2019
Topics: Disease; Humans; Philosophy, Medical
PubMed: 31061078
DOI: 10.1503/cmaj.181629 -
Ugeskrift For Laeger Dec 2016Popular music is ubiquitous, and musicians and songwriters have similar experiences with disease as other people. The aim of this review was to analyze popular songs'... (Review)
Review
Popular music is ubiquitous, and musicians and songwriters have similar experiences with disease as other people. The aim of this review was to analyze popular songs' content of descriptions of diseases. The most frequently occurring symptom was fever, mostly a metaphor for lovesickness or sexual orgasm. The most frequent and complete descriptions of diseases were in respiratory and psychiatric ailments. In conclusion, popular songs may provide valuable descriptions of symptoms and disease of educational importance to doctors.
Topics: Disease; Fever; Humans; Music; Schizophrenia
PubMed: 27966415
DOI: No ID Found -
Nature Communications Jun 2014In the post-genomic era, the elucidation of the relationship between the molecular origins of diseases and their resulting phenotypes is a crucial task for medical...
In the post-genomic era, the elucidation of the relationship between the molecular origins of diseases and their resulting phenotypes is a crucial task for medical research. Here, we use a large-scale biomedical literature database to construct a symptom-based human disease network and investigate the connection between clinical manifestations of diseases and their underlying molecular interactions. We find that the symptom-based similarity of two diseases correlates strongly with the number of shared genetic associations and the extent to which their associated proteins interact. Moreover, the diversity of the clinical manifestations of a disease can be related to the connectivity patterns of the underlying protein interaction network. The comprehensive, high-quality map of disease-symptom relations can further be used as a resource helping to address important questions in the field of systems medicine, for example, the identification of unexpected associations between diseases, disease etiology research or drug design.
Topics: Disease; Genetic Predisposition to Disease; Humans; Models, Theoretical; Phenotype; Proteins; Systems Theory
PubMed: 24967666
DOI: 10.1038/ncomms5212 -
Studies in History and Philosophy of... Aug 2020Although concepts of disease have received much scrutiny, the benefits of distinguishing between theoretical and clinical disease-and what is meant by those terms-may...
Although concepts of disease have received much scrutiny, the benefits of distinguishing between theoretical and clinical disease-and what is meant by those terms-may not be as readily apparent. One way of characterizing the distinction between theoretical and clinical conceptions of disease is by relying on Boorse's biostatistical theory (BST) for a conception of theoretical disease. Clinical disease could then be defined as theoretical disease that is diagnosed. Explicating this distinction provides a useful extension of the BST. The benefits of this approach are clearly and non-normatively demarcating disease from non-disease, while allowing for values and purpose to determine what criteria are used in clinical practice to represent a disease's underlying dysfunction. Through discussion of a variety of medical conditions, including polycystic ovary syndrome and type 2 diabetes mellitus, I explore how the relationship between BST-based theoretical and clinical disease could make sense of various features of clinical practice and medical theory. It could do this by lending focus to a nuanced understanding of the pathophysiological defects present in disease and the means by which they are assessed. This could contribute to making sense of revised nosologies and diagnostic criteria.
Topics: Biostatistics; Diagnosis; Disease; Humans; Models, Theoretical; Philosophy, Medical
PubMed: 32008896
DOI: 10.1016/j.shpsc.2019.101249 -
The American Journal of Pathology Apr 2020This Guest Editorial introduces the theme reviews focusing on the glycocalyx in human disease.
This Guest Editorial introduces the theme reviews focusing on the glycocalyx in human disease.
Topics: Disease; Glycocalyx; Humans
PubMed: 32061726
DOI: 10.1016/j.ajpath.2020.02.002 -
Cellular & Molecular Immunology Apr 2018For the past twenty years, chemokines have emerged as a family of critical mediators of cell migration during immune surveillance, development, inflammation and cancer... (Review)
Review
For the past twenty years, chemokines have emerged as a family of critical mediators of cell migration during immune surveillance, development, inflammation and cancer progression. Chemokines bind to seven transmembrane G protein-coupled receptors (GPCRs) that are expressed by a wide variety of cell types and cause conformational changes in trimeric G proteins that trigger the intracellular signaling pathways necessary for cell movement and activation. Although chemokines have evolved to benefit the host, inappropriate regulation or utilization of these small proteins may contribute to or even cause diseases. Therefore, understanding the role of chemokines and their GPCRs in the complex physiological and diseased microenvironment is important for the identification of novel therapeutic targets. This review introduces the functional array and signals of multiple chemokine GPCRs in guiding leukocyte trafficking as well as their roles in homeostasis, inflammation, immune responses and cancer.
Topics: Animals; Chemokines; Disease; Homeostasis; Humans; Inflammation; Ligands; Receptors, G-Protein-Coupled
PubMed: 29375126
DOI: 10.1038/cmi.2017.134 -
International Journal of Molecular... Apr 2024Studying mechanisms of development and the causes of various human diseases continues to be the focus of attention of various researchers [...].
Studying mechanisms of development and the causes of various human diseases continues to be the focus of attention of various researchers [...].
Topics: Humans; Genetic Predisposition to Disease; Disease
PubMed: 38674038
DOI: 10.3390/ijms25084455 -
Frontiers in Immunology 2020
Topics: Disease; Humans; Immunity; Metabolism; Nutritional Sciences
PubMed: 33133106
DOI: 10.3389/fimmu.2020.595115