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Expert Review of Molecular Diagnostics 2023Invasive fungal infections cause millions of infections annually, but diagnosis remains challenging. There is an increased need for low-cost, easy to use, highly... (Review)
Review
BACKGROUND
Invasive fungal infections cause millions of infections annually, but diagnosis remains challenging. There is an increased need for low-cost, easy to use, highly sensitive and specific molecular assays that can differentiate between colonized and pathogenic organisms from different clinical specimens.
AREAS COVERED
We reviewed the literature evaluating the current state of molecular diagnostics for invasive fungal infections, focusing on current and novel molecular tests such as polymerase chain reaction (PCR), digital PCR, high-resolution melt (HRM), and metagenomics/next generation sequencing (mNGS).
EXPERT OPINION
PCR is highly sensitive and specific, although performance can be impacted by prior/concurrent antifungal use. PCR assays can identify mutations associated with antifungal resistance, non-Aspergillus mold infections, and infections from endemic fungi. HRM is a rapid and highly sensitive diagnostic modality that can identify a wide range of fungal pathogens, including down to the species level, but multiplex assays are limited and HRM is currently unavailable in most healthcare settings, although universal HRM is working to overcome this limitation. mNGS offers a promising approach for rapid and hypothesis-free diagnosis of a wide range of fungal pathogens, although some drawbacks include limited access, variable performance across platforms, the expertise and costs associated with this method, and long turnaround times in real-world settings.
Topics: Humans; Antifungal Agents; Mycoses; Pathology, Molecular; Fungi; Invasive Fungal Infections; Sensitivity and Specificity
PubMed: 37801397
DOI: 10.1080/14737159.2023.2267977 -
Journal Der Deutschen Dermatologischen... Mar 2022
Topics: Dermatology; Humans; Pathology, Molecular
PubMed: 35304963
DOI: 10.1111/ddg.14760 -
Surgical Pathology Clinics Sep 2021Upper gastroesophageal carcinomas consist of cancers arising from the esophagus and stomach. Squamous cell carcinomas and adenocarcinomas are seen in the esophagus and... (Review)
Review
Upper gastroesophageal carcinomas consist of cancers arising from the esophagus and stomach. Squamous cell carcinomas and adenocarcinomas are seen in the esophagus and despite arising from the same organ have different biology. Gastric adenocarcinomas are categorized into 4 molecular subtypes: high Epstein-Barr virus load, microsatellite unstable cancers, chromosomal unstable (CIN) cancers, and genomically stable cancers. Genomically stable gastric cancers correlate highly with histologically defined diffuse-type cancers. Esophageal carcinomas and CIN gastric cancers often are driven by high-level amplifications of oncogenes and contain a high degree of intratumoral heterogeneity. Targeted therapeutics is an active area of research for gastroesophageal cancers.
Topics: Epstein-Barr Virus Infections; Herpesvirus 4, Human; Humans; Immunohistochemistry; Pathology, Molecular; Stomach Neoplasms
PubMed: 34373095
DOI: 10.1016/j.path.2021.05.008 -
Nature Reviews. Genetics Sep 2022Human genetics can inform the biology and epidemiology of coronavirus disease 2019 (COVID-19) by pinpointing causal mechanisms that explain why some individuals become... (Review)
Review
Human genetics can inform the biology and epidemiology of coronavirus disease 2019 (COVID-19) by pinpointing causal mechanisms that explain why some individuals become more severely affected by the disease upon infection by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus. Large-scale genetic association studies, encompassing both rare and common genetic variants, have used different study designs and multiple disease phenotype definitions to identify several genomic regions associated with COVID-19. Along with a multitude of follow-up studies, these findings have increased our understanding of disease aetiology and provided routes for management of COVID-19. Important emergent opportunities include the clinical translatability of genetic risk prediction, the repurposing of existing drugs, exploration of variable host effects of different viral strains, study of inter-individual variability in vaccination response and understanding the long-term consequences of SARS-CoV-2 infection. Beyond the current pandemic, these transferrable opportunities are likely to affect the study of many infectious diseases.
Topics: COVID-19; Humans; Molecular Epidemiology; Pandemics; SARS-CoV-2
PubMed: 35501396
DOI: 10.1038/s41576-022-00478-5 -
International Journal of Molecular... Jul 2022Today, the oncologist is like a detective of the human body who, instead of a magnifying glass, uses the new tools of molecular pathology to search not only for genes or...
Today, the oncologist is like a detective of the human body who, instead of a magnifying glass, uses the new tools of molecular pathology to search not only for genes or molecular targets, to be targeted with innovative anticancer therapies, but also molecular alterations that allow the identification of population groups at risk of developing tumors for preventive purposes [...].
Topics: Humans; Molecular Targeted Therapy; Neoplasms; Pathology, Molecular; Therapies, Investigational
PubMed: 35955561
DOI: 10.3390/ijms23158429 -
Journal of Nuclear Medicine : Official... Aug 2019
Topics: Humans; Molecular Imaging; Molecular Medicine; Nuclear Medicine; Periodicals as Topic; Radionuclide Imaging; Theranostic Nanomedicine
PubMed: 31371618
DOI: 10.2967/jnumed.119.233627 -
Advanced Drug Delivery Reviews Oct 2023Ocular surface neovascularization and its resulting pathological changes significantly alter corneal refraction and obstruct the light path to the retina, and hence is a... (Review)
Review
Ocular surface neovascularization and its resulting pathological changes significantly alter corneal refraction and obstruct the light path to the retina, and hence is a major cause of vision loss. Various factors such as infection, irritation, trauma, dry eye, and ocular surface surgery trigger neovascularization via angiogenesis and lymphangiogenesis dependent on VEGF-related and alternative mechanisms. Recent advances in antiangiogenic drugs, nanotechnology, gene therapy, surgical equipment and techniques, animal models, and drug delivery strategies have provided a range of novel therapeutic options for the treatment of ocular surface neovascularization. In this review article, we comprehensively discuss the etiology and mechanisms of corneal neovascularization and other types of ocular surface neovascularization, as well as emerging animal models and drug delivery strategies that facilitate its management.
Topics: Animals; Molecular Medicine; Neovascularization, Pathologic; Corneal Neovascularization; Retina; Angiogenesis Inhibitors
PubMed: 37689278
DOI: 10.1016/j.addr.2023.115084 -
Trends in Molecular Medicine May 2021
Topics: Autobiographies as Topic; Humans; Molecular Medicine
PubMed: 33840623
DOI: 10.1016/j.molmed.2021.03.002 -
Methods in Molecular Biology (Clifton,... 2021Genetic and environmental factors are critical elements in most common complex disease. Genetics is increasingly being recognized to play a substantive role in the... (Review)
Review
Genetic and environmental factors are critical elements in most common complex disease. Genetics is increasingly being recognized to play a substantive role in the susceptibility, prognosis, and treatment of common diseases. Due to recent and rapid advancements in characterization of genetic variants and large-scale genotyping platforms, multiple genes and genetic variants have now been identified for common, complex diseases. The most efficient method for gene identification at present appears to be large-scale association-based studies, which integrate genetic and epidemiological principles. As the strategy for gene identification studies has shifted toward genetic association-based methods rather than traditional linkage analysis, epidemiological methods are increasingly being integrated into genetic investigations and in public health research. Consequently, the disciplines of genetics and epidemiology, which historically have functioned separately, have been integrated into a hybrid discipline referred to as genetic epidemiology. In this chapter, we review methods for establishing the genetic burden of complex genetic disease, followed by methods for gene and/or genetic variant identification. When appropriate, we will highlight the epidemiological issues and clinical applications that guide these methods.
Topics: Genetic Linkage; Genetic Predisposition to Disease; Genetic Variation; Genome-Wide Association Study; High-Throughput Nucleotide Sequencing; Humans; Molecular Epidemiology; Phenotype; Sequence Analysis, DNA
PubMed: 33871853
DOI: 10.1007/978-1-0716-1138-8_19 -
Trends in Molecular Medicine Mar 2021
Topics: Humans; Molecular Medicine
PubMed: 33568327
DOI: 10.1016/j.molmed.2021.01.002