RESUMO
RATIONALE: The clinical manifestations of Fabry disease affect the nerves, kidneys, heart, skin, gastrointestinal tract and eyes. Our aim is to familiarize people with the FD diagnostic process by reporting this case. PATIENT CONCERNS: A 79-year-old-male patient presented with muscle pain and weakness in the extremities, also with an increasing erythrocyte sedimentation rate and C-reactive protein. Further examinations revealed that multiple organ involvement, such as rash, myocardial hypertrophy, peripheral neuropathy. DIAGNOSES: Cardiac MR demonstrated hypertrophic cardiomyopathy, myocardial fibrosis and low myocardial T1 value. The patient was eventually diagnosed with Fabry disease through proteomics and genetic testing. INTERVENTIONS: The treatment is enzyme replacement therapy (ERT). But this patient could not afford ERT and was given only general symptomatic treatment, pregabalin, and a gradual reduction in glucocorticoid. OUTCOMES: The patient's symptoms of joint pain and muscle weakness reduced significantly, and ESR and CRP had decreased to normal. LESSONS: FD is a rare disease and difficult to diagnose, but rare does not mean invisible. FD may present with signs and symptoms of rheumatic diseases. Rheumatologists should be aware and concerned about this disease.
Assuntos
Doença de Fabry , Arterite de Células Gigantes , Polimialgia Reumática , Idoso , Humanos , Masculino , Terapia de Reposição de Enzimas , Doença de Fabry/diagnóstico , Arterite de Células Gigantes/tratamento farmacológico , Coração , Rim , PeleRESUMO
Circular RNA (circ-RNA) and exosomes have recently been shown to play important roles in different tumors. However, the functions and regulatory mechanisms of exosomal circ-RNA in pancreatic ductal adenocarcinoma (PDAC) tumor progression remain unclear. Here, we identified a circular RNA (circ-PDE8A) from liver-metastatic PDAC cells by microarray analysis, detected its expression levels in clinical tissues and found that high circ-PDE8A expression was correlated with lymphatic invasion, TNM stage and a poor survival rate of PDAC patients. Further study revealed that circ-PDE8A promotes the invasive growth of PDAC cells via upregulating MET. Circ-PDE8A acts as a ceRNA for miR-338 to regulate MACC1 and stimulates invasive growth via the MACC/MET/ERK or AKT pathways. We further imaged the exosome communication between tumor cells and identified the tumor secreted exosomes in blood circulation. Finally, we analyzed the circ-PDE8A expression in plasma exosomes of PDAC patients and found that exosomal circ-PDE8A was associated with progression and prognosis in PDAC patients. Thus, circ-PDE8A may play an important role in tumor invasion, and exosomal circ-PDE8A may be a useful marker of PDAC diagnosis or progression.
Assuntos
3',5'-AMP Cíclico Fosfodiesterases/genética , Exossomos/metabolismo , MicroRNAs/metabolismo , Neoplasias Pancreáticas/patologia , Proteínas Proto-Oncogênicas c-met/metabolismo , RNA/genética , Fatores de Transcrição/metabolismo , Animais , Apoptose , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Carcinoma Ductal Pancreático/genética , Carcinoma Ductal Pancreático/metabolismo , Carcinoma Ductal Pancreático/patologia , Carcinoma Ductal Pancreático/cirurgia , Proliferação de Células , Progressão da Doença , Exossomos/genética , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/metabolismo , Neoplasias Hepáticas/secundário , Neoplasias Hepáticas/cirurgia , Camundongos , Camundongos Nus , MicroRNAs/genética , Invasividade Neoplásica , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/metabolismo , Neoplasias Pancreáticas/cirurgia , Pancreaticoduodenectomia , Prognóstico , Proteínas Proto-Oncogênicas c-met/genética , RNA Circular , RNA Neoplásico/genética , Transativadores , Fatores de Transcrição/genética , Células Tumorais Cultivadas , Ensaios Antitumorais Modelo de XenoenxertoRESUMO
BACKGROUND: Gegen (Puerariae Labatae Radix) is one of the important medicines in Traditional Chinese Medicine. The studies showed that Gegen and its preparation had effective actions for atherosclerosis. OBJECTIVE: Near-infrared (NIR) was used to develop a method for rapid determination of puerarin during percolation and concentration process of Gegen. MATERIALS AND METHODS: About ten batches of samples were collected with high-performance liquid chromatography analysis values as reference, calibration models are generated by partial least-squares (PLS) regression as linear regression, and artificial neural networks (ANN) as nonlinear regression. RESULTS: The root mean square error of prediction for the PLS and ANN model was 0.0396 and 0.0365 and correlation coefficients (r (2)) was 97.79% and 98.47%, respectively. CONCLUSIONS: The NIR model for the rapid analysis of puerarin can be used for on-line quality control in the percolation and concentration process. SUMMARY: Near-infrared was used to develop a method for on-line quality control in the percolation and concentration process of GegenCalibration models are generated by partial least-squares (PLS) regression as linear regression and artificial neural networks (ANN) as non-linear regressionThe root mean square error of prediction for the PLS and ANN model was 0.0396 and 0.0365 and correlation coefficients (r (2)) was 97.79% and 98.47%, respectively. Abbreviations used: NIR: Near-Infrared Spectroscopy; Gegen: Puerariae Loabatae Radix; TCM: Traditional Chinese Medicine; PLS: Partial least-squares; ANN: Artificial neural networks; RMSEP: Root mean square error of validation; R2: Correlation coefficients; PAT: Process analytical technology; FDA: The Food and Drug Administration; Rcal: Calibration set; RMSECV: Root mean square errors of cross-validation; RPD: Residual predictive deviation; SLS: Straight Line Subtraction; MLP: Multi-Layer Perceptron; MSE: Mean square error.