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1.
Medicine (Baltimore) ; 102(34): e34836, 2023 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-37653796

RESUMO

Acute ischemic stroke is a major cause of morbidity and mortality worldwide, and genetic factors play a role in the risk of stroke. Single nucleotide polymorphisms (SNPs) in the VKORC1, CYP4F2, and GGCX genes have been linked to clinical outcomes, such as bleeding and cardiovascular diseases. This study aimed to investigate the association between specific polymorphisms in these genes and the risk of developing the first episode of acute ischemic stroke in patients without a known embolic source. This retrospective, cross-sectional, observational, analytical, case-control study included adult patients diagnosed with acute ischemic stroke. The SNPs in VKORC1 rs9923231, CYP4F2 rs2108622, GGCX rs11676382 genes were genotyped and analyzed together with the demographic and clinical factors of the 2 groups of patients. The presence of SNPs in VKORC1 or CYP4F2 genes significantly increased the risk of ischemic stroke in the context of smoking, arterial hypertension, and carotid plaque burden. The multivariate logistic model revealed that smoking (odds ratio [OR] = 3.920; P < .001), the presence of carotid plaques (OR = 2.661; P < .001) and low-density lipoprotein cholesterol values >77 mg/dL (OR = 2.574; P < .001) were independently associated with stroke. Polymorphisms in the VKORC1 and CYP4F2 genes may increase the risk of ischemic stroke in patients without a determined embolic source. Smoking, the presence of carotid plaques, and high low-density lipoprotein cholesterol levels were reconfirmed as important factors associated with ischemic stroke.


Assuntos
AVC Isquêmico , Acidente Vascular Cerebral , Adulto , Humanos , Estudos de Casos e Controles , Estudos Transversais , Estudos Retrospectivos , Polimorfismo de Nucleotídeo Único , Acidente Vascular Cerebral/genética , LDL-Colesterol , Família 4 do Citocromo P450/genética , Vitamina K Epóxido Redutases/genética
2.
Expert Rev Mol Med ; 25: e18, 2023 05 08.
Artigo em Inglês | MEDLINE | ID: mdl-37154101

RESUMO

BACKGROUND: Glioblastoma (GBM) is the most frequent type of primary brain cancer, having a median survival of only 15 months. The current standard of care includes a combination of surgery, radiotherapy (RT) and chemotherapy with temozolomide, but with limited results. Moreover, multiple studies have shown that tumour relapse and resistance to classic therapeutic approaches are common events that occur in the majority of patients, and eventually leading to death. New approaches to better understand the intricated tumour biology involved in GBM are needed in order to develop personalised treatment approaches. Advances in cancer biology have widen our understanding over the GBM genome and allowing a better classification of these tumours based on their molecular profile. METHODS: A new targeted therapeutic approach that is currently investigated in multiple clinical trials in GBM is represented by molecules that target various defects in the DNA damage repair (DDR) pathway, a mechanism activated by endogenous and exogenous factors that induce alteration of DNA, and is involved for the development of chemotherapy and RT resistance. This intricate pathway is regulated by p53, two important kinases ATR and ATM and non-coding RNAs including microRNAs, long-non-coding RNAs and circular RNAs that regulate the expression of all the proteins involved in the pathway. RESULTS: Currently, the most studied DDR inhibitors are represented by PARP inhibitors (PARPi) with important results in ovarian and breast cancer. PARPi are a class of tumour agnostic drugs that showed their efficacy also in other localisations such as colon and prostate tumours that have a molecular signature associated with genomic instability. These inhibitors induce the accumulation of intracellular DNA damage, cell cycle arrest, mitotic catastrophe and apoptosis. CONCLUSIONS: This study aims to provide an integrated image of the DDR pathway in glioblastoma under physiological and treatment pressure with a focus of the regulatory roles of ncRNAs. The DDR inhibitors are emerging as an important new therapeutic approach for tumours with genomic instability and alterations in DDR pathways. The first clinical trials with PARPi in GBM are currently ongoing and will be presented in the article. Moreover, we consider that by incorporating the regulatory network in the DDR pathway in GBM we can fill the missing gaps that limited previous attempts to effectively target it in brain tumours. An overview of the importance of ncRNAs in GBM and DDR physiology and how they are interconnected is presented.


Assuntos
Glioblastoma , Masculino , Humanos , Glioblastoma/terapia , Glioblastoma/tratamento farmacológico , Recidiva Local de Neoplasia/tratamento farmacológico , Dano ao DNA , RNA não Traduzido/genética , Biomarcadores , Inibidores de Poli(ADP-Ribose) Polimerases/farmacologia , Inibidores de Poli(ADP-Ribose) Polimerases/uso terapêutico , Instabilidade Genômica , DNA , Reparo do DNA/genética
3.
J Med Life ; 13(2): 265-268, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32742524

RESUMO

Bone metastases in cholangiocarcinoma are uncommon. We report the case of a patient with disseminated osteolytic lesions who was admitted to the Neurology Department for progressive paraparesis. On the computed tomography examination, specific features for cholangiocarcinoma were described, confirmed later by the histopathological aspect of the bone lesions.


Assuntos
Neoplasias dos Ductos Biliares/complicações , Colangiocarcinoma/complicações , Osteólise/complicações , Paraparesia/complicações , Neoplasias dos Ductos Biliares/patologia , Neoplasias Ósseas/secundário , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/patologia , Colangiocarcinoma/patologia , Humanos , Masculino , Osteólise/diagnóstico por imagem , Paraparesia/diagnóstico por imagem , Tomografia Computadorizada por Raios X
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