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Biosensors May 2018For many disease states, positive outcomes are directly linked to early diagnosis, where therapeutic intervention would be most effective. Recently, trends in disease... (Review)
Review
For many disease states, positive outcomes are directly linked to early diagnosis, where therapeutic intervention would be most effective. Recently, trends in disease diagnosis have focused on the development of label-free sensing techniques that are sensitive to low analyte concentrations found in the physiological environment. Surface-enhanced Raman spectroscopy (SERS) is a powerful vibrational spectroscopy that allows for label-free, highly sensitive, and selective detection of analytes through the amplification of localized electric fields on the surface of a plasmonic material when excited with monochromatic light. This results in enhancement of the Raman scattering signal, which allows for the detection of low concentration analytes, giving rise to the use of SERS as a diagnostic tool for disease. Here, we present a review of recent developments in the field of in vivo and in vitro SERS biosensing for a range of disease states including neurological disease, diabetes, cardiovascular disease, cancer, and viral disease.
Topics: Biosensing Techniques; Diagnostic Techniques and Procedures; Disease; Spectrum Analysis, Raman
PubMed: 29751641
DOI: 10.3390/bios8020046 -
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 -
AMA Journal of Ethics Dec 2019This image of a silhouetted figure looking out over a body of water at sunset aims to promote reflection about patients' feelings of sadness, despair, helplessness, and...
This image of a silhouetted figure looking out over a body of water at sunset aims to promote reflection about patients' feelings of sadness, despair, helplessness, and uncertainty upon being diagnosed.
Topics: Disease; Emotions; Humans; Medicine in the Arts; Sadness
PubMed: 31876476
DOI: 10.1001/amajethics.2019.1103 -
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 -
Journal of Cellular Biochemistry Jul 2021MicroRNAs are small noncoding RNAs that can bind to the target sites in the 3'-untranslated region of messenger RNA to regulate posttranscriptional gene expression.... (Review)
Review
MicroRNAs are small noncoding RNAs that can bind to the target sites in the 3'-untranslated region of messenger RNA to regulate posttranscriptional gene expression. Increasing evidence has identified the miR-29 family, consisting of miR-29a, miR-29b-1, miR-29b-2, and miR-29c, as key regulators of a number of biological processes. Moreover, their abnormal expression contributes to the etiology of numerous diseases. In the current review, we aimed to summarize the differential expression patterns and functional roles of the miR-29 family in the etiology of diseases including osteoarthritis, osteoporosis, cardiorenal, and immune disease. Furthermore, we highlight the therapeutic potential of targeting members of miR-29 family in these diseases. We present miR-29s as promoters of osteoblast differentiation and apoptosis but suppressors of chondrogenic and osteoclast differentiation, fibrosis, and T cell differentiation, with clear avenues for therapeutic manipulation. Further research will be crucial to identify the precise mechanism of miR-29 family in these diseases and their full potential in therapeutics.
Topics: Disease; Humans; MicroRNAs
PubMed: 33529442
DOI: 10.1002/jcb.29896 -
International Journal of Molecular... Jun 2021Mitochondrial dysfunction is known to contribute to mitochondrial diseases, as well as to a variety of aging-based pathologies. Mitochondria have their own genomes... (Review)
Review
Mitochondrial dysfunction is known to contribute to mitochondrial diseases, as well as to a variety of aging-based pathologies. Mitochondria have their own genomes (mitochondrial DNA (mtDNA)) and the abnormalities, such as point mutations, deletions, and copy number variations, are involved in mitochondrial dysfunction. In recent years, several epidemiological studies and animal experiments have supported the Developmental Origin of Health and Disease (DOHaD) theory, which states that the environment during fetal life influences the predisposition to disease and the risk of morbidity in adulthood. Mitochondria play a central role in energy production, as well as in various cellular functions, such as apoptosis, lipid metabolism, and calcium metabolism. In terms of the DOHaD theory, mtDNA copy number may be a mediator of health and disease. This paper summarizes the results of recent epidemiological studies on the relationship between environmental factors and mtDNA copy number during pregnancy from the perspective of DOHaD theory. The results of these studies suggest a hypothesis that mtDNA copy number may reflect environmental influences during fetal life and possibly serve as a surrogate marker of health risks in adulthood.
Topics: Animals; DNA Copy Number Variations; DNA, Mitochondrial; Disease; Female; Humans; Pregnancy; Prenatal Exposure Delayed Effects
PubMed: 34205712
DOI: 10.3390/ijms22126634 -
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 -
Journal of Molecular Biology Oct 2017Aberrant R-loop structures are increasingly being realized as an important contributor to human disease. R loops, which are mainly co-transcriptional, abundant RNA/DNA... (Review)
Review
Aberrant R-loop structures are increasingly being realized as an important contributor to human disease. R loops, which are mainly co-transcriptional, abundant RNA/DNA hybrids, form naturally and can indeed be beneficial for transcription regulation at certain loci. However, their unwanted persistence elsewhere or in particular situations can lead to DNA double-strand breaks, chromosome rearrangements, and hypermutation, which are all sources of genomic instability. Mutations in genes involved in R-loop resolution or mutations leading to R-loop formation at specific genes affect the normal physiology of the cell. We discuss here the examples of diseases for which a link with R loops has been described, as well as how disease-causing mutations might participate in the development and/or progression of diseases that include repeat-associated conditions, other neurological disorders, and cancers.
Topics: DNA Replication; Disease; Gene Expression Regulation; Genomic Instability; Humans; Nucleic Acid Conformation; Transcription, Genetic
PubMed: 27600412
DOI: 10.1016/j.jmb.2016.08.031 -
Scientific Reports Mar 2021The importance of quantifying the distribution and determinants of multimorbidity has prompted novel data-driven classifications of disease. Applications have included...
The importance of quantifying the distribution and determinants of multimorbidity has prompted novel data-driven classifications of disease. Applications have included improved statistical power and refined prognoses for a range of respiratory, infectious, autoimmune, and neurological diseases, with studies using molecular information, age of disease incidence, and sequences of disease onset ("disease trajectories") to classify disease clusters. Here we consider whether easily measured risk factors such as height and BMI can effectively characterise diseases in UK Biobank data, combining established statistical methods in new but rigorous ways to provide clinically relevant comparisons and clusters of disease. Over 400 common diseases were selected for analysis using clinical and epidemiological criteria, and conventional proportional hazards models were used to estimate associations with 12 established risk factors. Several diseases had strongly sex-dependent associations of disease risk with BMI. Importantly, a large proportion of diseases affecting both sexes could be identified by their risk factors, and equivalent diseases tended to cluster adjacently. These included 10 diseases presently classified as "Symptoms, signs, and abnormal clinical and laboratory findings, not elsewhere classified". Many clusters are associated with a shared, known pathogenesis, others suggest likely but presently unconfirmed causes. The specificity of associations and shared pathogenesis of many clustered diseases provide a new perspective on the interactions between biological pathways, risk factors, and patterns of disease such as multimorbidity.
Topics: Adult; Aged; Cluster Analysis; Disease; Female; Humans; Male; Middle Aged; Multimorbidity; Risk Factors; Sex Factors
PubMed: 33686097
DOI: 10.1038/s41598-021-84860-z -
Cell Mar 2013X chromosome inactivation and genomic imprinting are classic epigenetic processes that cause disease when not appropriately regulated in mammals. Whereas X chromosome... (Review)
Review
X chromosome inactivation and genomic imprinting are classic epigenetic processes that cause disease when not appropriately regulated in mammals. Whereas X chromosome inactivation evolved to solve the problem of gene dosage, the purpose of genomic imprinting remains controversial. Nevertheless, the two phenomena are united by allelic control of large gene clusters, such that only one copy of a gene is expressed in every cell. Allelic regulation poses significant challenges because it requires coordinated long-range control in cis and stable propagation over time. Long noncoding RNAs have emerged as a common theme, and their contributions to diseases of imprinting and the X chromosome have become apparent. Here, we review recent advances in basic biology, the connections to disease, and preview potential therapeutic strategies for future development.
Topics: Animals; Disease; Genomic Imprinting; Humans; RNA, Long Noncoding; X Chromosome Inactivation
PubMed: 23498939
DOI: 10.1016/j.cell.2013.02.016