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Objective:To investigate the value of pre-therapy 18F-FDG PET/CT radiomic models in differentiating epidermal growth factor receptor (EGFR) exon 19 deletion from exon 21 L858R missense in patients with non-small cell lung cancer (NSCLC). Methods:A total of 172 patients with EGFR mutant NSCLC (54 males, 118 females, age: (56.2±12.5) years) in the Fourth Hospital of Hebei Medical University between January 2015 and November 2019 were retrospectively included. Exon 19 mutation was found in 75 patients and exon 21 mutation was identified in 97 patients. The patients were divided into training set ( n=121) and validation set ( n=51) in a 7∶3 ratio by using random number table. The LIFEx 4.00 package was used to extract texture features of PET/CT images of lesions. The least absolute shrinkage and selection operator (LASSO) algorithm was used for feature screening. Three machine learning models, namely logistic regression (LR), random forest (RF), and support vector machine (SVM) models, were constructed based on the selected optimal feature subsets. The ROC curve analysis was performed to assess the predictive performance of those models. Finally, decision curve analysis (DCA) was used to evaluate the clinical value of the models. Results:Nine radiomics features, including 6 PET features (histogram (HISTO)_Kurtosis, SHAPE_Sphericity, gray level run length matrix (GLRLM)_ low gray-level run emphasis (LGRE), GLRLM_ run length non-uniformity (RLNU), neighborhood grey level different matrix (NGLDM)_Contrast, gray level zone length matrix (GLZLM)_ short-zone low gray-level emphasis (SZLGE)), and 3 CT features (gray level co-occurrence matrix (GLCM)_Correlation, GLRLM_ run percentage (RP), NGLDM_Contrast), were screened by LASSO algorithm. Three machine learning models had similar predictive performance in the training and validation sets: AUCs for the RF model were 0.79, 0.77, and those for the SVM model were 0.76, 0.75, for the LR model were 0.77, 0.75. The DCA showed that the 3 machine learning models had good net benefits and clinical values in predicting EGFR mutation subtypes.Conclusion:18F-FDG PET/CT radiomics provide a non-invasive method for the identification of EGFR exon 19 deletion and exon 21 L858R missense mutations in patients with NSCLC, which may help the clinical decision-making and the formulation of individualized treatment plan.
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Objective:To study the clinical characteristics of orobuccal involuntary movements (OB) induced by anticholinergic agents.Methods:The clinical characteristics of patients with OB induced by anticholinergic agents in Qilu Hospital (Qingdao) from April 2018 to October 2021 and cases reported in the literature were analyzed in combination with literature review.Results:Seven patients in Qilu Hospital (Qingdao) and 10 cases in the literature were analyzed. Of these 7 patients, 6 were elderly female, with involuntary, repetitive, stereotypical movements of the lips, tongue, and sometimes of the jaw after intake of anticholinergic medication with the latency 21-60 days and the involuntary movements improved 7-30 days after discontinuation of anticholinergic medication. Of 10 cases reported in the literature, 7 were elderly female and 8 only with OB and 2 patients had extremities dyskinesia plus OB. Involuntary movements appeared after latency of 3-93 days following the introduction of anticholinergic drugs and resolved after latency of 2-60 days following their withdrawal.Conclusions:OB induced by anticholinergic agents mostly occur sub-acutely during the treatment of Parkinson′s disease, and can resolve in a short time after withdrawal, which is independent of the dose of levodopa and anticholinergic agents. The aging, female, and anxiety and depression may be the risk factors.
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder occuring in male carriers of a premutation expansion (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene. However, no FXTAS cases have been reported in China. We report a 67-year old male who presented clinically with orthostatic tremor, intention tremor, resting tremor and ataxic gait. Magnetic resonance imaging showed lesions in the bilateral middle cerebellar peduncles. Gene test showed premutation (101 CGG repeats) of the FMR1 gene and confirmed the diagnosis of FXTAS.
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Objective To evaluate the clinical features and guanosine triphosphate cyclohydrolase 1 (GCH-1) gene mutation in a family with dopa-responsive dystonia (DRD).Methods The clinical features of this family were collected and their peripheral blood samples were screened for mutation in GCH-1 gene using PCR and DNA direct sequencing.Results The clinical features among each patient in this family were different.But all affected family members had quite a good response to levodopa treatment without significant adverse reactions.DNA test showed an AT deletion mutation at point of 631-632 in the 6th exon of GCH-1 gene in 5 affected members and 1 asymptomatic immediate family member.Conclusions Clinical heterogeneity is an important characteristic of DRD and clinical symptoms vary intra-families.Same gene type may cause different phenotype and not all carriers are patients.The deletion mutation at point of 631-632 in the 6th exon of GCH-1 gene should be considered as a pathogenic mutation for DRD.