1.Recent advance in diagnosis and treatment of myocardial contusion
Chinese Journal of Thoracic and Cardiovascular Surgery 2022;38(10):631-633
Myocardial contusion, also known as cardiac contusion, is common in blunt chest trauma, which serious threat to life and health. The disease is insidious and concealed, and the incidence and fatality rate are extremely high. It lacks specific clinical manifestations and diagnostic methods, and is often covered by combined multiple injuries. Thus easily leading to the missed diagnosis or misdiagnosis, and delays the best time for treatment. Early diagnosis and treatment of the disease have important clinical significance in saving patients, lives and improving prognosis.
2.Value of cardiac magnetic resonance in the diagnosis of myocardial contusion
Qingsong MIAO ; Degang CONG ; Keyuan LIU ; Jianping DING ; Fuyan WANG
Chinese Journal of Trauma 2022;38(1):54-60
Objective:To evaluate the diagnostic value of cardiac magnetic resonance (CMR) in myocardial contusion.Methods:A case-control study was performed on 42 patients with blunt chest injury treated in Affiliated Hospital of Hangzhou Normal University from September 2018 to January 2021. There were 24 males and 18 females, with the age range of 23-66 years [(44.2±10.9)years]. The patients were divided into myocardial contusion group ( n=20) and non-myocardial contusion group ( n=22) according to the clinical diagnostic criteria of myocardial contusion (cardiac troponin I>0.06 ng/ml). All the patients underwent CMR examination within 7 days after hospitalization, and eletrocardiography (ECG) as well as transthoracic echocardiography (TTE) examinations with 24 hours. Abnormal findings on CMR, ECG and TTE were compared between the two groups. The receiver operating characteristic (ROC) curve was used for the comparison of the diagnostic efficacy of CMR, ECG and TTE for myocardial contusion. The area under the curve (AUC), sensitivity, specificity, positive predictive value and Youden index of CMR, ECG and TTE were calculated, respectively. Results:There were 15 patients (75%) presenting CMR abnormalities in myocardial contusion group compared to 2 patients (9%) in non-myocardial contusion group ( P<0.01). CMR abnormalities mainly included myocardial oedema, ischemia or hemorrhage, which were located in the left ventricle of 12 patients (71%), right ventricle of 3 (18%) and ventricular septal of 3 (12%). There were 12 patients (60%) showing ECG abnormalities in myocardial contusion group compared to 7 patients (32%) in non-myocardial contusion group ( P>0.05). Abnormal ECG changes included 8 patients (42%) with sinus tachycardia or bradycardia, 5 (26%) with ST-T changes, 3 (16%) with atrial premature beat, 2 (11%) with bundle branch block and 1 (5%) with frequent premature ventricular contractions. There were 10 patients (50%) showing TTE abnormalities in myocardial contusion group compared to 9 patients (41%) in non-myocardial contusion group ( P>0.05). TTE abnormalities manifested as left ventricular diastolic dysfunction in 12 patients (63%) and wall motion abnormalities in 7 (37%). The AUC of CMR, ECG and TTE for diagnosing myocardial contusion was 0.83 (95% CI 0.70-0.96), 0.64 (95% CI 0.47-0.81) and 0.55 (95% CI 0.70-0.72), respectively. For CMR, ECG and TTE, the diagnostic sensitivity was 75.0%, 60.0% and 50.0%, with the specificity of 91.0%, 68.2% and 59.1%, the positive predictive value was 88.2%, 63.2% and 52.6%, and the Youden index of 66.0, 28.2 and 9.1, respectively. Conclusion:CMR can accurately detect myocardial contusion, with better diagnostic performance than ECG and TTE as well as relatively higher sensitivity and specificity, indicating that CMR has great value for clinical diagnosis of myocardial contusion.
3.Novel mutation in SCO2 of patients with high myopia from Enshi Tujia and Miao Autonomous Prefecture of China
Yin LI ; Dandan ZHANG ; Qingsong WU ; Tuo LI
International Eye Science 2024;24(1):5-9
AIM: To evaluate the pathogenic variants of the SCO2(OMIM 604272)gene in patients with high myopia from Enshi Tujia and Miao Autonomous Prefecture of China.METHODS: A total of 384 patients with high myopia whose spherical refractive error was ≤ -6.00 D and whose axial length was ≥26.00 mm in at least one eye were recruited. DNA was extracted by the phenol-chloroform method from 5 mL of peripheral venous blood. Sanger sequencing was performed to identify pathogenic variants in exon 2 of SCO2. The detected variants were evaluated via in silico prediction software. A total of 288 people from the same district were included as the normal control cohort.RESULTS: Seven variants were detected, namely, four synonymous variants(c.201C>T/p.=, c.576C>T/p.=, c.633A>C/p.=, c.780T>C/p.=.), two missense variants(c.187A>G/p.Ile63Val, c.59G>C/p.Arg20Pro)and one nonsense variant(c.544C>T/p.Gln182*). The two missense variants were not damaging, as predicted by PolyPhen2, SIFT and Provean. The novel nonsense variant(c.544C>T/p.Gln182*)cannot be found in the 1000 Genomes Project and was not identified in 288 normal controls. Variant Taster suggested that the nonsense variant site was conserved.CONCLUSION: The newly identified nonsense mutation may be responsible for high myopia of the patients in our cohort. SCO2 is associated with high myopia, while the incidence of SCO2 variants in high myopia in this cohort was as low as 1/384; the nonsense mutation may be a scarce variant of high myopia in the Enshi Tujia and Miao Autonomous Prefecture of China.