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

RESUMO

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.


Assuntos
Cardiomiopatias , Doença de Depósito de Glicogênio Tipo IIb , Insuficiência Cardíaca , Humanos , Masculino , Feminino , Doença de Depósito de Glicogênio Tipo IIb/complicações , Doença de Depósito de Glicogênio Tipo IIb/diagnóstico , Doença de Depósito de Glicogênio Tipo IIb/genética , Diagnóstico Diferencial , Consenso , Proteína 2 de Membrana Associada ao Lisossomo/genética , Cardiomiopatias/diagnóstico , Cardiomiopatias/genética , Cardiomiopatias/terapia , Insuficiência Cardíaca/diagnóstico
2.
Front Oncol ; 12: 960072, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36465402

RESUMO

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.
Artigo em Inglês | MEDLINE | ID: mdl-33585727

RESUMO

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.
Artigo em Inglês | MEDLINE | ID: mdl-33227699

RESUMO

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.


Assuntos
Proteínas Associadas a CRISPR/genética , Sistemas CRISPR-Cas , Repetições Palindrômicas Curtas Agrupadas e Regularmente Espaçadas , Edição de Genes , Terapia Genética , Imunoterapia , Terapia de Alvo Molecular , Neoplasias/terapia , Animais , Proteínas Associadas a CRISPR/metabolismo , Difusão de Inovações , Regulação Neoplásica da Expressão Gênica , Técnicas de Transferência de Genes , Terapia Genética/efeitos adversos , Humanos , Imunoterapia/efeitos adversos , Técnicas de Diagnóstico Molecular , Terapia de Alvo Molecular/efeitos adversos , Neoplasias/genética , Neoplasias/imunologia , Neoplasias/metabolismo , Valor Preditivo dos Testes
5.
Viruses ; 12(1)2020 01 06.
Artigo em Inglês | MEDLINE | ID: mdl-31935811

RESUMO

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.


Assuntos
Infecções por HIV/prevenção & controle , Infecções por HIV/transmissão , Migração Humana , Controle de Doenças Transmissíveis , Surtos de Doenças/prevenção & controle , Infecções por HIV/epidemiologia , Humanos , Cooperação Internacional , Saúde Pública , Literatura de Revisão como Assunto
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