Paroxysmal dyskinesias are a group of neurological diseases characterized by intermittent episodes of involuntary movements with different causes. Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesia and can be divided into primary and secondary types based on the etiology. Clinically, PKD is characterized by recurrent and transient attacks of involuntary movements precipitated by a sudden voluntary action. The major cause of primary PKD is genetic abnormalities, and the inheritance pattern of PKD is mainly autosomal-dominant with incomplete penetrance. The proline-rich transmembrane protein 2 (PRRT2) was the first identified causative gene of PKD, accounting for the majority of PKD cases worldwide. An increasing number of studies has revealed the clinical and genetic characteristics, as well as the underlying mechanisms of PKD. By seeking the views of domestic experts, we propose an expert consensus regarding the diagnosis and treatment of PKD to help establish standardized clinical evaluation and therapies for PKD. In this consensus, we review the clinical manifestations, etiology, clinical diagnostic criteria and therapeutic recommendations for PKD, and results of genetic analyses in PKD patients performed in domestic hospitals.
Background: The application value of T 2 mapping in evaluating cervical cancer (CC) features remains unclear. Purpose: To investigate the role of T 2 values in evaluating CC classification, grade, and lymphovascular space invasion (LVSI) in comparison to apparent diffusion coefficient (ADC), and to compare synthetic T 2-weighted (T 2 W) images calculated from T 2 values to conventional T 2 W images for CC staging. Study Type: Retrospective. Population: Sixty-three patients with histopathologically confirmed CC. Field Strength/Sequence: 3T, conventional T 2 W turbo spin-echo, diffusion-weighted echo-planar, and accelerated T 2 mapping sequence. Assessment: T 2 and ADC values between different pathological features of CC were compared. The diagnostic accuracies of conventional and synthetic T 2 W images in staging were also compared. Statistical Tests: Parameters were compared using an independent t-test, Wilcoxon signed-rank test, and the chi-square test. Receiver operating characteristic analysis was performed. Results: The T 2 values varied significantly between well/moderately differentiated and poorly differentiated tumors ([92.8 AE 9.5 msec] vs. [83.8 AE 9.5 msec], P < 0.05) and between LVSI-positive and LVSI-negative CC ([82.2 AE 8.2 msec] vs. [93.9 AE 9.1 msec], P < 0.05). The ADC values showed a significant difference for grade ([0.76 AE 0.10 × 10 −3 mm 2 /s] vs. [0.65 AE 0.11 × 10 −3 mm 2 /s], P < 0.05) and no difference for LVSI status ([0.71 AE 0.11× 10 −3 mm 2 /s] vs. [0.73 AE 0.12× 10 −3 mm 2 /s], P = 0.472). There was no significant difference in T 2 and ADC values between squamous cell carcinoma and adenocarcinoma (P = 0.378 and P = 0.661, respectively). In MRI staging, the conventional and synthetic T 2 W images resulted in a similar accuracy (71% vs. 68%, P = 0.698). Data Conclusion: The accelerated T 2 mapping sequence may facilitate grading and staging of CC by providing quantitative T 2 maps and synthetic T 2 W images in one acquisition. T 2 values may be superior to ADC in predicting LVSI. Level of Evidence: 2 Technical Efficacy Stage: 2
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