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.
Evidence has demonstrated that microRNA-342-5p (miR-342-5p) is implicated in atherosclerosis (AS), but little is known regarding its intrinsic regulatory mechanisms. Here, we aimed to explore the effect of miR-342-5p targeting Wnt3a on formation of vulnerable plaques and angiogenesis of AS. ApoE−/− mice were fed with high-fat feed for 16 w to replicate the AS vulnerable plaque model. miR-342-5p and Wnt3a expression in aortic tissues of AS were detected. The target relationship between miR-342-5p and Wnt3a was verified. Moreover, ApoE−/− mice were injected with miR-342-5p antagomir and overexpression-Wnt3a vector to test their functions in serum lipid levels, inflammatory and oxidative stress-related cytokines, aortic plaque stability and angiogenesis in plaque of AS mice. miR-342-5p expression was enhanced and Wnt3a expression was degraded in aortic tissues of AS mice and miR-342-5p directly targeted Wnt3a. Up-regulating Wnt3a or down-regulating miR-342-5p reduced blood lipid content, inflammatory and oxidative stress levels, the vulnerability of aortic tissue plaque and inhibited angiogenesis in aortic plaque of AS mice. Functional studies show that depleting miR-342-5p can stabilize aortic tissue plaque and reduce angiogenesis in plaque in AS mice via restoring Wnt3a.
Background and objectivesThe epidemiology of stroke at high altitudes has not been extensively studied, especially at heights of 4000 m and above. Thus, stroke prevention and treatment at high altitudes are challenging. We conducted a cross-sectional study to estimate the prevalence of stroke, the detection rate of individuals at high risk of stroke and the risk factors for stroke in the Qinghai-Tibet Plateau in China, a high altitude plateau that inhabits approximately 15 million people.DesignA population-based cross-sectional study in the Qinghai-Tibet Plateau.SettingData were collected from participants through face-to-face screening using a primary screening table. The table relied on the China National Stroke Screening and Prevention Project.ParticipantsA total of 10 700 residents aged ≥40 years and living on the Qinghai-Tibet Plateau for more than 6 months participated from January 2019 to December 2021.Main outcome measuresThe primary screening table included basic demographic information, medical history information, personal lifestyle habits and physical examination information.ResultsA total of 10 056 people were included in the analysis. The prevalence of stroke was 2.3% (95% CI 2.0% to 2.6%), and the detection rate of individuals at high risk of stroke was 26.2% (95% CI 25.3% to 27.0%). The prevalence of stroke and the detection rate of individuals at high risk of stroke increased with altitude (p<0.01), and the prevalence of stroke at high altitudes was almost 2.2 times that at mid-altitudes (p<0.01). After full adjustments, age, residence, hypertension, family history of stroke and smoking were significantly associated with stroke (p<0.05).ConclusionsThe prevalence of stroke, the related risk factors and the detection rate of high-risk individuals were clarified. The prevalence rates of hypertension, overweight or obesity and diabetes in the Qinghai-Tibet Plateau were all higher than the Chinese average. Higher-altitude exposure may be an independent risk factor for stroke.
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