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1.
J Am Coll Cardiol ; 82(16): 1628-1647, 2023 10 17.
Article in English | MEDLINE | ID: mdl-37821174

ABSTRACT

Danon disease is a rare X-linked autophagic vacuolar cardioskeletal myopathy associated with severe heart failure that can be accompanied with extracardiac neurologic, skeletal, and ophthalmologic manifestations. It is caused by loss of function variants in the LAMP2 gene and is among the most severe and penetrant of the genetic cardiomyopathies. Most patients with Danon disease will experience symptomatic heart failure. Male individuals generally present earlier than women and die of either heart failure or arrhythmia or receive a heart transplant by the third decade of life. Herein, the authors review the differential diagnosis of Danon disease, diagnostic criteria, natural history, management recommendations, and recent advances in treatment of this increasingly recognized and extremely morbid cardiomyopathy.


Subject(s)
Cardiomyopathies , Glycogen Storage Disease Type IIb , Heart Failure , Humans , Male , Female , Glycogen Storage Disease Type IIb/complications , Glycogen Storage Disease Type IIb/diagnosis , Glycogen Storage Disease Type IIb/genetics , Diagnosis, Differential , Consensus , Lysosomal-Associated Membrane Protein 2/genetics , Cardiomyopathies/diagnosis , Cardiomyopathies/genetics , Cardiomyopathies/therapy , Heart Failure/diagnosis
2.
Front Oncol ; 12: 960072, 2022.
Article in English | MEDLINE | ID: mdl-36465402

ABSTRACT

Extracellular RNA (exRNA) is a special form of RNA in the body. RNA carries information about genes and metabolic regulation in the body, which can reflect the real-time status of cells. This characteristic renders it a biomarker for disease diagnosis, treatment, and prognosis. ExRNA is transported through extracellular vesicles as a signal medium to mediate communication between cells. Tumor cells can release more vesicles than normal cells, thereby promoting tumor development. Depending on its easy detection, the advantages of non-invasive molecular diagnostic technology can be realized. In this systematic review, we present the types, vectors, and biological value of exRNA. We briefly describe new methods of tumor diagnosis and treatment, as well as the difficulties faced in the progress of such research. This review highlights the groundbreaking potential of exRNA as a clinical biomarker.

3.
Tob Prev Cessat ; 7: 10, 2021.
Article in English | MEDLINE | ID: mdl-33585727

ABSTRACT

INTRODUCTION: Identification of chemicals present in e-liquids and aerosols is a vital first step in assessing the human health effects of e-cigarettes. We aim to identify the qualitative and quantitative constituents present in e-cigarette liquids and aerosols. METHODS: A comprehensive search of scientific databases included literature up to July 2020. A total of 28 articles met inclusion criteria; 18 articles assessed e-liquid constituents and 15 articles assessed aerosol constituents. Of these, 5 assessed constituents present in both mediums. We included English-language publications that examine qualitative and/or quantitative constituents in e-cigarette liquids and aerosols. RESULTS: In total, articles identified 60 compounds in e-liquids and 47 compounds in aerosols. A total of 22 compounds were identified in both e-liquids and aerosols. These are: acenaphthylene, acetaldehyde, acetol, antimony, benzaldehyde, benzene, chromium, copper, diacetyl, formaldehyde, glycerol, lead, limonene, naphthalene, nickel, nicotine, nicotine-N'-oxides, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), N-Nitrosonornicotine (NNN), propylene glycol, toluene, and vegetable glycerin. Some of the identified chemicals have been labeled as harmful, toxic, or cancerous through human, animal, and cell line studies. A variety of laboratory methods were used for analyses, which made reported levels less consistent. CONCLUSIONS: E-liquids and aerosols contain a variety of chemicals with potential health effects from inhaling them. Further, secondhand health effects are unknown because of limited understanding of the dose of exposure by non-users. Identification of constituents in e-cigarettes is the first step to determine their risks to humans and support evidence-based regulations and health policies.

4.
Biomed Pharmacother ; 133: 111007, 2021 Jan.
Article in English | MEDLINE | ID: mdl-33227699

ABSTRACT

CRISPR gene editing technology belongs to the third generation of gene editing technology. Since its discovery, it has attracted the attention of a large number of researchers. Investigators have published a series of academic articles and obtained breakthrough research results through in-depth research. In recent years, this technology has developed rapidly and been widely applied in many fields, especially in medicine. This review focuses on concepts of CRISPR gene editing technology, its application in cancer treatments, its existing limitations, and the new progress in recent years for detailed analysis and sharing.


Subject(s)
CRISPR-Associated Proteins/genetics , CRISPR-Cas Systems , Clustered Regularly Interspaced Short Palindromic Repeats , Gene Editing , Genetic Therapy , Immunotherapy , Molecular Targeted Therapy , Neoplasms/therapy , Animals , CRISPR-Associated Proteins/metabolism , Diffusion of Innovation , Gene Expression Regulation, Neoplastic , Gene Transfer Techniques , Genetic Therapy/adverse effects , Humans , Immunotherapy/adverse effects , Molecular Diagnostic Techniques , Molecular Targeted Therapy/adverse effects , Neoplasms/genetics , Neoplasms/immunology , Neoplasms/metabolism , Predictive Value of Tests
5.
Viruses ; 12(1)2020 01 06.
Article in English | MEDLINE | ID: mdl-31935811

ABSTRACT

HIV prevention and control methods are implemented on different scales to reduce the spread of the virus amongst populations. However, despite such efforts, HIV continues to persist in populations with a global incidence rate of 1.8 million in 2017 alone. The introduction of new infections into susceptible regional populations promotes the spread of HIV, indicating a crucial need to study the impact of migration and mobility on regional and global efforts to prevent HIV transmission. Here we reviewed studies that assess the impact of human mobility on HIV transmission and spread. We found an important role for both travel and migration in driving the spread of HIV across regional and national borders. Combined, our results indicate that even in the presence of control and preventive efforts, if migration and travel are occurring, public health efforts will need to remain persistent to ensure that new infections do not grow into outbreaks.


Subject(s)
HIV Infections/prevention & control , HIV Infections/transmission , Human Migration , Communicable Disease Control , Disease Outbreaks/prevention & control , HIV Infections/epidemiology , Humans , International Cooperation , Public Health , Review Literature as Topic
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