ABSTRACT
Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.
ABSTRACT
To observe the effect of different R‐R interval on left ventricular systolic function measured by echocardiography in patients with persistent atrial fibrillation ( AF ) ,and assess the clinical feasibility of the use of an index that is based on the RR1/RR2 ratio to accurately estimate left ventricular systolic function during AF . Methods T wenty‐one patients with persistent AF received echocardiographic examination ,left ventricular ejection fraction ( LVEF ) and stroke volume ( SV ) were recorded at least 10－20 consecutive cardiac cycles for each patient . T he effects of different R‐R intervals on LVEF and SV determined by echocardiography were analyzed . Bland‐Altman analysis was used to assess the correlation and agreement between the systolic parameters of a single beat method based on the ratio of preceding R‐R intervals approaching to 1 and the average value of multiple cardiac cycles as the golden standard . Results In the same patient with AF ,LVEF and SV measured in different cardiac cycles were unstable with great variation . LVEF and SV were not only correlated with heart rate ,showing significantly positive correlations with RR interval ( all r ＞ 0 .4 , P ＜ 0 .05 ) ; w hich were also affected by heart rate variability ,w hen the heart rate variability was high ( heart rate standard deviation ≥ 30 beats/min ) ,the measured SV was better correlated with RR 1/RR2 ( r :0 .581 vs 0 .835 , P ＝ 0 .009 ) . Bland‐Altman analysis showed excellent correlation and agreement between the LVEF and SV of a single beat with identical RR1and RR2 intervals and measured average values over all cardiac cycles ( r ＝0 .897 ,0 .918 ; all P ＜ 0 .001 ) . Conclusions LV systolic function is significantly correlated with RR interval and is also affected by heat rate variability . Single beat based on ratio of RR 1/RR2 to assess LV systolic function in patients with AF is as accurate as the time‐consuming method of averaging multiple cardiac cycles .
ABSTRACT
Objective To evaluate the efficacy and safety of higenamine hydrochloride(HG) stress echocardiography for diagnosis of coronary artery disease (CAD). Methods The study was designed as prospective,randomized,open-labled,positively controlled and crossover phase II multi-center clinical research.Ninety subjects who were suspected to have CAD were enrolled.HG dosage was titrated at 0.5,1, 2,4 μg.kg -1.min-1every 3 min.Adenosine was injected 140 μg.kg -1.min-1for 6 min with total dosage 0.8 mg/kg.Visual assessment of the left ventricle wall motionand 17-segment model were used for analysis of stress echocardiography.CAD was defined as identifying >50% diameter stenosis in at least one major coronary artery by coronary angiogram.All adverse reaction were recorded. Results For HG group,the sensitivity,specificity,accuracy,positive predictive value and negative predictive value were 28.9%,89.7%, 57.1%,76.5% and 47.8%,respectively;for adenosine group,they were 26.7%,94.9%,58.3%,85.7%and 47.1%,respectively. There was no significant difference between the two groups( P > 0.05). The diagnostic sensitivities of HG and adenosine echocardiography for single vessel stenosis were 11.1% and 5.6%,respectively( P >0.05).Both HG and adenosine echocardiography have the same sensitivity with 37.5% for double vessel stenosis and 44.4% for triple vessel stenosis.Advers reaction rate was 84.4% in HG group and 92.2% in adenosine group( P >0.05).Conclusions HG stress echocardiography for CAD diagnosis has high specificity,good safety and low sensitivity,which are similar to adenosine echo.