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1.
Ageing Res Rev ; 84: 101834, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36581178

RESUMO

Parkinson's Disease (PD) is a neurodegenerative disorder that affects dopaminergic neurons in the mesencephalic substantia nigra, causing a progressive clinical course characterized by pre-motor, non-motor and motor symptoms, which negatively impact the quality of life of patients and cause high health care costs. Therefore, the present study aims to discuss the clinical manifestations of PD and to make a correlation with the gut-brain (GB) axis, approaching epidemiology and therapeutic perspectives, to better understand its clinical progression and identify symptoms early. A literature review was performed regarding the association between clinical progression, the gut-brain axis, epidemiology, and therapeutic perspectives, in addition to detailing pre-motor, non-motor symptoms (neuropsychiatric, cognitive, autonomic, sleep disorders, sensory abnormalities) and cardinal motor symptoms. Therefore, this article addresses a topic of extreme relevance, since the previously mentioned clinical manifestations (pre-motor and non-motor) can often act as prodromal markers for the early diagnosis of PD and may precede it by up to 20 years.


Assuntos
Doenças do Sistema Nervoso Autônomo , Transtornos Cognitivos , Disfunção Cognitiva , Doença de Parkinson , Humanos , Doença de Parkinson/diagnóstico , Doença de Parkinson/epidemiologia , Doença de Parkinson/complicações , Qualidade de Vida , Doenças do Sistema Nervoso Autônomo/diagnóstico , Doenças do Sistema Nervoso Autônomo/etiologia , Progressão da Doença
2.
Viruses ; 14(2)2022 02 02.
Artigo em Inglês | MEDLINE | ID: mdl-35215902

RESUMO

Efficient, wide-scale testing for SARS-CoV-2 is crucial for monitoring the incidence of the infection in the community. The gold standard for COVID-19 diagnosis is the molecular analysis of epithelial secretions from the upper respiratory system captured by nasopharyngeal (NP) or oropharyngeal swabs. Given the ease of collection, saliva has been proposed as a possible substitute to support testing at the population level. Here, we used a novel saliva collection device designed to favour the safe and correct acquisition of the sample, as well as the processivity of the downstream molecular analysis. We tested 1003 nasopharyngeal swabs and paired saliva samples self-collected by individuals recruited at a public drive-through testing facility. An overall moderate concordance (68%) between the two tests was found, with evidence that neither system can diagnose the infection in 100% of the cases. While the two methods performed equally well in symptomatic individuals, their discordance was mainly restricted to samples from convalescent subjects. The saliva test was at least as effective as NP swabs in asymptomatic individuals recruited for contact tracing. Our study describes a testing strategy of self-collected saliva samples, which is reliable for wide-scale COVID-19 screening in the community and is particularly effective for contact tracing.


Assuntos
Teste de Ácido Nucleico para COVID-19/métodos , Teste de Ácido Nucleico para COVID-19/normas , RNA Viral/análise , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , SARS-CoV-2/genética , Saliva/virologia , COVID-19/diagnóstico , COVID-19/virologia , Feminino , Humanos , Masculino , Programas de Rastreamento , Nasofaringe/virologia , RNA Viral/genética , SARS-CoV-2/isolamento & purificação , Manejo de Espécimes/métodos
3.
Mol Diagn Ther ; 21(6): 653-661, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28744745

RESUMO

OBJECTIVE: Maternal plasma is a source of circulating placental nucleic acids. This study was designed to detect aberrantly expressed placental mRNA genes circulating in the maternal plasma of pregnancies affected with fetal conotruncal anomalies (CNTRA) and left-ventricular outflow tract (LVOT) obstruction in the second trimester of pregnancy. METHODS: This was a retrospective monocentric study conducted from 1 Jan 2016 to 31 Dec 2016. NanoString technology was used to identify aberrantly expressed genes, comparing 36 women carrying a fetus with CNTRA or LVOT obstruction to 42 controls at 19-24 weeks of gestation. The genes with differential expression were subsequently tested using real-time polymerase chain reaction. Linear discriminant analysis was used to combine all the mRNA species with discriminant ability for CNTRA and LVOT obstruction. A multivariable receiver operating characteristic (ROC) curve having the estimated discriminant score as an explanatory variable was generated for the two affected groups versus controls. RESULTS: Three genes with differential expression, namely MAPK1, IQGAP1 and Visfatin were found. The ROC curves yielded detection rates of 60 and 62.5% at a false-positive rate of 5% for CNTRA and LVOT, respectively. CONCLUSIONS: These data suggested that molecular screening of CNTRA and LVOT obstruction in the second trimester is feasible. Prospective studies are needed to test the discriminant ability of these genes and to calculate the predictive positive value in the general population.


Assuntos
Cardiopatias Congênitas/diagnóstico , Ventrículos do Coração/anormalidades , RNA Mensageiro/sangue , Obstrução do Fluxo Ventricular Externo/diagnóstico , Adulto , Biomarcadores/sangue , Estudos de Casos e Controles , Citocinas/genética , Eletrocardiografia , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Cardiopatias Congênitas/genética , Humanos , Pessoa de Meia-Idade , Proteína Quinase 1 Ativada por Mitógeno/genética , Nicotinamida Fosforribosiltransferase/genética , Gravidez , Segundo Trimestre da Gravidez , Curva ROC , Estudos Retrospectivos , Obstrução do Fluxo Ventricular Externo/genética , Proteínas Ativadoras de ras GTPase/genética
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