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1.
Brief Bioinform ; 25(2)2024 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-38385881

RESUMO

Gene expression during brain development or abnormal development is a biological process that is highly dynamic in spatio and temporal. Previous studies have mainly focused on individual brain regions or a certain developmental stage. Our motivation is to address this gap by incorporating spatio-temporal information to gain a more complete understanding of brain development or abnormal brain development, such as Alzheimer's disease (AD), and to identify potential determinants of response. In this study, we propose a novel two-step framework based on spatial-temporal information weighting and multi-step decision trees. This framework can effectively exploit the spatial similarity and temporal dependence between different stages and different brain regions, and facilitate differential gene analysis in brain regions with high heterogeneity. We focus on two datasets: the AD dataset, which includes gene expression data from early, middle and late stages, and the brain development dataset, spanning fetal development to adulthood. Our findings highlight the advantages of the proposed framework in discovering gene classes and elucidating their impact on brain development and AD progression across diverse brain regions and stages. These findings align with existing studies and provide insights into the processes of normal and abnormal brain development.


Assuntos
Doença de Alzheimer , Encéfalo , Humanos , Doença de Alzheimer/genética , Expressão Gênica , Árvores de Decisões
2.
Bioinformatics ; 40(9)2024 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-39240375

RESUMO

MOTIVATION: Structural variants (SVs) play an important role in genetic research and precision medicine. As existing SV detection methods usually contain a substantial number of false positive calls, approaches to filter the detection results are needed. RESULTS: We developed a novel deep learning-based SV filtering tool, CSV-Filter, for both short and long reads. CSV-Filter uses a novel multi-level grayscale image encoding method based on CIGAR strings of the alignment results and employs image augmentation techniques to improve SV feature extraction. CSV-Filter also utilizes self-supervised learning networks for transfer as classification models, and employs mixed-precision operations to accelerate training. The experiments showed that the integration of CSV-Filter with popular SV detection tools could considerably reduce false positive SVs for short and long reads, while maintaining true positive SVs almost unchanged. Compared with DeepSVFilter, a SV filtering tool for short reads, CSV-Filter could recognize more false positive calls and support long reads as an additional feature. AVAILABILITY AND IMPLEMENTATION: https://github.com/xzyschumacher/CSV-Filter.


Assuntos
Aprendizado Profundo , Humanos , Software , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Análise de Sequência de DNA/métodos , Algoritmos , Variação Estrutural do Genoma
3.
Exp Ther Med ; 28(5): 410, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-39258241

RESUMO

In recent decades, immune checkpoint inhibitors (ICIs) have emerged as safer and less disruptive alternatives to conventional chemotherapy and radiotherapy for certain patients with tumours. ICIs serve a synergistic role alongside conventional therapies by manipulating the immune system to recognise and target tumour cells. However, excessive activation of the immune system can lead to immune-related adverse events including pneumonia, myocarditis and colitis, which pose serious and even fatal risks. In the present case series, three patients with a thoracic tumour with an ICI-induced peptic ulcer triggered by programmed cell death protein 1 antibodies (diagnosed by gastrointestinal endoscopy) are presented. These cases were successfully treated with corticosteroids. The diagnostic and treatment processes undertaken for these patients underscore the requirement to comprehensively understand the mechanism of ICI-induced peptic ulcer. Moreover, the relevant literature was also reviewed in the present study.

4.
Biomol Biomed ; 24(5): 1350-1360, 2024 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-38577906

RESUMO

Hepatoid adenocarcinoma (HAC) is a poorly differentiated extrahepatic tumor that can produce alpha-fetoprotein (AFP). The literature does not provide a comprehensive understanding of the prognostic factors for HAC. Therefore, we present a novel nomogram to predict the cancer-specific survival (CSS) of patients with HAC. We analyzed 265 cases of HAC from the Surveillance, Epidemiology, and End Results (SEER) database spanning from 2004 to 2015. Using a Cox proportional hazard regression model, we identified several risk factors and incorporated them into our predictive nomogram. The nomogram's predictive ability was assessed by utilizing the concordance index (C-index), calibration curve, and receiver operating characteristic (ROC). Results from a multivariate Cox regression showed that CSS was independently correlated with liver metastasis, surgery, and chemotherapy. Our nomogram had a C-index of 0.71 (95% CI 0.71-0.96). Furthermore, calibration curves demonstrated concordance between the predicted survival probability from the nomogram and the observed survival probability. The areas under the curve (AUC) for 6-month, 1-, and 3-year survival were 0.80, 0.82, and 0.88, respectively. Our study successfully formulated a prognostic nomogram that offers promising predictions for the 6-month, 1-, and 3-year CSS of patients with HAC. This nomogram holds potential for practical use in guiding treatment decisions and designing clinical trials.


Assuntos
Adenocarcinoma , Nomogramas , Programa de SEER , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Adenocarcinoma/mortalidade , Adenocarcinoma/patologia , Idoso , Neoplasias Hepáticas/mortalidade , Neoplasias Hepáticas/patologia , Curva ROC , Adulto , Modelos de Riscos Proporcionais , Fatores de Risco , Prognóstico
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