Pulmonary arterial pressure is an important index in cardiovascular disorders, especially for pulmonary hypertension (PH). Doppler echocardiography (DE) is widely used as a noninvasive method to assess pulmonary arterial pressure. However, recent studies have found several hemodynamic factors that affect its accuracy in estimating systolic pulmonary arterial pressure (sPAP). But the effect of tricuspid regurgitation (TR) has not been investigated. Therefore, our study is aimed to determine whether the severity of TR will affect the accuracy of sPAP measured by DE in an unselected patient population. We retrospectively studied 177 patients who underwent DE and right heart catheterization (RHC) examinations. Patients were categorized into 3 groups according to the severity of TR (mild, moderate, and severe). The discrepancy in sPAP measured by DE and RHC was calculated and compared in each group. Determinants of discordant results between two methods were also evaluated. Age, gender, interval between DE and RHC, sequence of DE and RHC were similar among groups (all P>.05). Differences in sPAP, RAP, and tricuspid regurgitation pressure gradient (TR-PG) were similar in group 1 and 2 (all P>.05), while all significantly higher in group 3 (all P<.05). The difference in sPAP between DE and RHC was affected independently by severe TR and severe PH (both P<.05). Severe TR and severe PH affect the accuracy of sPAP measured by DE. Modification of echocardiographic sPAP measurements by taking into consideration of these factors may lead to reduced systemic errors.
BACKGROUND Idiopathic basal ganglia calcification (IBGC) is a neurodegenerative disease characterized by symmetrical calcification of basal ganglia and other brain region, also known as Fahr’s disease. It can be sporadic or familial, and there is no definite etiology at present. With the development of neuroimaging, the number of reports of IBGC has increased in recent years. However, due to its hidden onset, diverse clinical manifestations, and low incidence, it is likely to be misdiagnosed or ignored by potential patients and their family. CASE SUMMARY We report a case of a 61-year-old man who presented with symptoms of dysphagia and alalia. His computed tomography scan of the brain revealed bilateral symmetric calcifications of basal ganglia, cerebellum, thalamus, and periventricular area. The genetic test showed a new mutation sites of MYORG , c.1438T>G mutation and c.1271_1272 TGGTGCGC insertion mutation. He was finally diagnosed with IBGC. CONCLUSION It is important to detect MYORG mutation when IBGC is suspected, especially in those without an obvious family history, for better understanding of the underlying mechanism and identifying potential treatments.
IntroductionSilent cerebrovascular disease (SCD), which is a common disease in the elderly, leads to cognitive decline, gait disorders, depression and urination dysfunction, and increases the risk of cerebrovascular events. Our study aims to compare the accuracy of the diagnosis of SCD-related gait disorders between the intelligent system and the clinician. Our team have developed an intelligent evaluation system for gait. This study will evaluate whether the intelligent system can help doctors make clinical decisions and predictions, which aids the early prevention and treatment of SCD.Methods and analysisThis study is a multi-centred, prospective, randomised and controlled trial.SCD subjects aged 60–85 years in Shanghai and Guizhou will be recruited continuously. All subjects will randomly be divided into a doctor with intelligence assistance group or a doctor group, at a 1:1 ratio. The doctor and intelligent assistant group will accept the intelligent system evaluation. The intelligent system obtains gait parameters by an Red-Green-Blue-depth camera and computer vision algorithm. The doctor group will accept the clinicians’ routine treatment procedures. Meanwhile, all subjects will accept the panel’s gait assessment and recognition rating scale as the gold standard. The primary outcome is the sensitivity of the intelligent system and clinicians to screen for gait disorders. The secondary outcomes include the healthcare costs and the incremental cost effectiveness ratio of intelligent systems and clinicians to screen for gait disorders.Ethics and disseminationApproval was granted by the Ethics Committee of Zhongshan Hospital affiliated with Fudan University on 26 November 2019. The approval number is B2019-027(2) R. All subjects will sign an informed consent form before enrolment. Serious adverse events will be reported to the main researchers and ethics committees. The subjects’ data will be kept strictly confidential. The results will be disseminated in peer-reviewed journals.Trial registration numberNCT04457908
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