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Progress in Retinal and Eye Research Jan 2016The effort to subdivide diseases and to individualize therapies based on characteristics of the patient has been labeled precision medicine. Jameson and Longo define... (Review)
Review
The effort to subdivide diseases and to individualize therapies based on characteristics of the patient has been labeled precision medicine. Jameson and Longo define precision medicine as "treatments targeted to the needs of individual patients on the basis of genetic, biomarker, phenotypic or psychosocial characteristics that distinguish a given patient from other patients with similar clinical presentations" (Jameson and Longo, 2015). We illustrate how molecular diagnosis can be applied to orbital inflammatory disease to achieve the goals of precision medicine.
Topics: Biopsy; Diagnosis, Differential; Gene Expression Profiling; Humans; Molecular Diagnostic Techniques; Ophthalmology; Orbital Diseases; Precision Medicine
PubMed: 26608807
DOI: 10.1016/j.preteyeres.2015.11.001 -
Current Issues in Molecular Biology Oct 2022Despite the growth of molecular diagnosis from the era of Hippocrates, the emergence of COVID-19 is still remarkable. The previously used molecular techniques were not... (Review)
Review
Despite the growth of molecular diagnosis from the era of Hippocrates, the emergence of COVID-19 is still remarkable. The previously used molecular techniques were not rapid enough to screen a vast population at home, in offices, and in hospitals. Additionally, these techniques were only available in advanced clinical laboratories.The pandemic outbreak enhanced the urgency of researchers and research and development companies to invent more rapid, robust, and portable devices and instruments to screen a vast community in a cost-effective and short time. There has been noteworthy progress in molecular diagnosing tools before and after the pandemic. This review focuses on the advancements in molecular diagnostic techniques before and after the emergence of COVID-19 and how the pandemic accelerated the implantation of molecular diagnostic techniques in most clinical laboratories towardbecoming routine tests.
PubMed: 36286040
DOI: 10.3390/cimb44100325 -
Materials (Basel, Switzerland) Jul 2019Molecular diagnosis is the field that aims to develop nucleic-acid-based analytical methods for biological markers and gene expression assessments by combining... (Review)
Review
Molecular diagnosis is the field that aims to develop nucleic-acid-based analytical methods for biological markers and gene expression assessments by combining laboratory medicine and molecular genetics. As it gradually becomes a clinical reality, molecular diagnosis could benefit from improvements resulting from thorough studies that could enhance the accuracy of these methods. The application of magnetic particles in molecular diagnosis tools has led to tremendous breakthroughs in terms of specificity, sensitivity, and discrimination in bioassays. Therefore, the aim of this review is to highlight the principles involved in the implementation of magnetic particles for sample preparation and targeted analyte isolation, purification, and extraction. Furthermore, the most recent advancements in the area of cancer and infectious disease diagnosis are presented, with an emphasis on screening and early stage detection.
PubMed: 31284393
DOI: 10.3390/ma12132158 -
Experimental and Therapeutic Medicine Nov 2020COVID-19 is caused by a novel coronavirus (2019-nCoV or SARS-CoV-2) and has become a global public health emergency. Rapid and accurate molecular diagnostic technologies... (Review)
Review
COVID-19 is caused by a novel coronavirus (2019-nCoV or SARS-CoV-2) and has become a global public health emergency. Rapid and accurate molecular diagnostic technologies are crucial for the screening, isolation, treatment, prevention and control of COVID-19. Currently, nucleic acid detection-based techniques and rapid diagnostic tests that detect antigens or antibodies specific to 2019-nCoV infections are the primary diagnostic tools. China National Medical Products Administration has opened a special channel for approval of new pharmaceuticals owing to urgent clinical needs, with 18 nucleic acid detection kits, 11 protein detection kits and 1 sequencing-related equipment and supporting software having been approved until April 23, 2020. The current review summarizes the application situation, advantages, disadvantages and associated technology improvement trends of molecular diagnostics for COVID-19 in China, identifies knowledge gaps and indicates future priorities for research in this field. The most effective way to prevent and control COVID-19 is early detection, diagnosis, isolation and treatment. In the clinical application of molecular diagnosis technology, it is necessary to combine pathogenic microbiology, immunology and other associated detection technologies, advocate the combination of multiple technologies, determine how they complement each other, enhance practicability and improve the ability of rapid and accurate diagnosis and differential diagnosis of COVID-19.
PubMed: 32934678
DOI: 10.3892/etm.2020.9142 -
Trends in Genetics : TIG Dec 2022A molecular diagnosis from the analysis of sequencing data in rare Mendelian diseases has a huge impact on the management of patients and their families. Numerous... (Review)
Review
A molecular diagnosis from the analysis of sequencing data in rare Mendelian diseases has a huge impact on the management of patients and their families. Numerous patient phenotype-aware variant prioritisation (VP) tools have been developed to help automate this process, and shorten the diagnostic odyssey, but performance statistics on real patient data are limited. Here we identify, assess, and compare the performance of all up-to-date, freely available, and programmatically accessible tools using a whole-exome, retinal disease dataset from 134 individuals with a molecular diagnosis. All tools were able to identify around two-thirds of the genetic diagnoses as the top-ranked candidate, with LIRICAL performing best overall. Finally, we discuss the challenges to overcome most cases remaining undiagnosed after current, state-of-the-art practices.
Topics: Humans; Phenotype; Exome; Exome Sequencing; Rare Diseases
PubMed: 35934592
DOI: 10.1016/j.tig.2022.07.002 -
Animals : An Open Access Journal From... Jun 2022Sparganosis is a zoonotic parasitic disease caused by the larvae (spargana) of the genus , which is widely distributed globally and threatens human health. More than 60... (Review)
Review
Sparganosis is a zoonotic parasitic disease caused by the larvae (spargana) of the genus , which is widely distributed globally and threatens human health. More than 60 species of have already been identified, and over 2000 cases have been reported. This review summarizes the prevalence of humans, frogs, snakes, and other animals with spargana. Furthermore, the infection mode, distribution, and site are summarized and analyzed. We also describe the epidemiology, molecular diagnosis, and other aspects which are of considerable significance to preventing sparganum.
PubMed: 35739914
DOI: 10.3390/ani12121578 -
Neurology. Genetics Feb 2021
PubMed: 33728374
DOI: 10.1212/NXG.0000000000000529 -
Translational Lung Cancer Research Jun 2020The global incidence of malignant mesothelioma (MM) causes considerable disease burden, suffering and health care costs. Beside preventive measures and ban the use of... (Review)
Review
The global incidence of malignant mesothelioma (MM) causes considerable disease burden, suffering and health care costs. Beside preventive measures and ban the use of asbestos, early diagnosis would largely improve the chance of curative treatment. Current histologic criteria, however, requiring presence of invasion in the surrounding fatty tissue fail to identify MM in sufficiently early stage. Unilateral accumulation of pleural effusion is one of the earliest clinical manifestations of MM that occurs in approximately 90% of the patients. Therapeutic thoracocenthesis is necessary to remove the fluid and to relieve patients' symptoms. This effusion is easily accessible and offers early and minimally invasive diagnosis by combining cytology with immunologic, molecular- and biomarker analyses. Typically, the fluid is rich in malignant cells and cell groups, but incipient stages of the disease may be difficult to recognize as the malignant cells can be masked by presence of inflammatory or reactive mesothelial cells. Recurrent, hemorrhagic and cell rich effusion should always be suspicious for MM and adequately prepared and analyzed to provide necessary information for subsequent therapy. Importantly, early detection of MM by integrating cytology and molecular approaches has high sensitivity and positive predictive value and has a major impact on patient survival. Thus, a conclusive positive MM cytology should lead to treatment without delay. This review summarizes molecular and diagnostic criteria of MM diagnosis.
PubMed: 32676359
DOI: 10.21037/tlcr-2019-pps-10 -
Sensors and Actuators. B, Chemical Dec 2021Molecular diagnosis, which plays a major role in infectious disease screening with successful understanding of the human genome, has attracted more attention because of... (Review)
Review
Molecular diagnosis, which plays a major role in infectious disease screening with successful understanding of the human genome, has attracted more attention because of the outbreak of COVID-19 recently. Since point-of-care testing (POCT) can expand the application of molecular diagnosis with the benefit of rapid reply, low cost, and working in decentralized environments, many researchers and commercial institutions have dedicated tremendous effort and enthusiasm to POCT-based biosensing for molecular diagnosis. In this review, we firstly summarize the state-of-the-art techniques and the construction of biosensing systems for POC molecular diagnosis. Then, the application scenarios of POCT-based biosensing for molecular diagnosis were also reviewed. Finally, several challenges and perspectives of POC biosensing for molecular diagnosis are discussed. This review is expected to help researchers deepen comprehension and make progresses in POCT-based biosensing field for molecular diagnosis applications.
PubMed: 34511726
DOI: 10.1016/j.snb.2021.130708 -
Nutrients Jun 2019Cow´s milk is one of the most important and basic nutrients introduced early in life in our diet but can induce IgE-associated allergy. IgE-associated allergy to cow´s... (Review)
Review
Cow´s milk is one of the most important and basic nutrients introduced early in life in our diet but can induce IgE-associated allergy. IgE-associated allergy to cow´s milk can cause severe allergic manifestations in the gut, skin and even in the respiratory tract and may lead to life-threatening anaphylactic shock due to the stability of certain cow´s milk allergens. Here, we provide an overview about the allergen molecules in cow´s milk and the advantages of the molecular diagnosis of IgE sensitization to cow´s milk by serology. In addition, we review current strategies for prevention and treatment of cow´s milk allergy and discuss how they could be improved in the future by innovative molecular approaches that are based on defined recombinant allergens, recombinant hypoallergenic allergen derivatives and synthetic peptides.
Topics: Allergens; Biomarkers; Humans; Immunoglobulin E; Milk Hypersensitivity; Milk Proteins; Molecular Diagnostic Techniques; Phenotype; Predictive Value of Tests; Treatment Outcome
PubMed: 31261965
DOI: 10.3390/nu11071492