The term holoprosencephaly (HPC) is used to indicate the group of hemispheric deformities caused by a failure in the development of the prosencephalic vesicle. The purpose of this study is to explain the morphologic specter of twelve cases of HPC, qualify them, and compare them to the literature. It was evaluated 5837 pediatrics necropsies, and there were 12 cases of HPC. Data like gender, age and the presence of another associated malformations were evaluated and compared to another malformations and to the total number of necropsies. The majority of the cases was male (66.66%), and stillborns (75%). The most frequently type of HPC found was the lobar type (58.3%), and the most frequently type of facial alteration was the ciclopy (25%). There is a statistic tendency to HPC affect the male sex, in comparison with other neurologic malformations. Besides, the stillborns are more frequently observed in HPC than in other neurologic malformations.
Abstract Background Coronary artery calcium (CAC) scanning can be performed using non-contrast computed tomography to predict cardiovascular events, but has less value for risk stratification in symptomatic patients. Objective To identify and validate predictors of significant coronary obstruction (SCO) in symptomatic patients without coronary artery calcification. Methods A total of 4,258 participants were screened from the CORE64 and CORE320 studies that enrolled patients referred for invasive angiography, and from the Quanta Registry that included patients referred for coronary computed tomography angiography (CTA). Logistic regression models evaluated associations between cardiovascular risk factors, CAC, and SCO. An algorithm to assess the risk of SCO was proposed for patients without CAC. Significance level of 5% was used in the analyses. Results Of the 509 participants of the CORE study, 117 (23%) had zero coronary calcium score; 13 (11%) patients without CAC had SCO. Zero calcium score was related to younger age, female gender, lower body mass index, no diabetes, and no dyslipidemia. Being a current smoker increased ~3.5 fold the probability of SCO and other CV risk factors were not significantly associated. Considering the clinical findings, an algorithm to further stratify zero calcium score patients was proposed and had a limited performance in the validation cohort (AUC 58; 95%CI 43, 72). Conclusion A lower cardiovascular risk profile is associated with zero calcium score in a setting of high-risk patients. Smoking is the strongest predictor of SCO in patients without CAC.
A utilidade clinica de qualquer exame empregado na medicina depende da populacao estudada, pois mesmo um exame acurado nao tera proveito se usado na populacao incorreta. Enquanto que a sensibilidade e a especificidade sao caracteristicas inerentes ao metodo diagnostico, a probabilidade de o individuo apresentar a doenca quando o teste e positivo (valor preditivo positivo, VPP) e a probabilidade de o individuo nao a apresentar quando o teste e negativo (valor preditivo negativo, VPN) dependem da prevalencia da doenca na [...]
Background Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease present in one in 500 of the general population, and it is main cause of sudden death in young people. The presence of myocardial fibrosis in HCM is very common (more than 2/3 of patients), and its identification by late gadolinium enhancement (LGE) on cardiac magnetic resonance (CMR) helps the diagnosis and it is associated with ventricular arrhythmias and worse prognosis. The aim of our study was to find CMR characteristics that are related to the presence and burden of myocardial fibrosis by CMR in HCM. Methods We evaluated 115 consecutive HCM patients who underwent cardiac MRI and analyzed both the presence/ absence of myocardial fibrosis (LGE) and also its magnitude (estimated as absolute mass of myocardial fibrosis in grams and normalized to LV mass as percentage of LV myocardial mass) with other morphological and functional factors as well as population characteristics. Patients with a history of acute myocardial infarction as well as other cardiomyopathies that could present late enhancement were excluded. Results The mean age was 46.6 ± 16.1 yo, 77% male. Eighty patients (70%) had myocardial fibrosis in cardiac MRI. Patients with myocardial fibrosis had lower ejection fraction of the left ventricle (68.8 vs. 74.6 ± 0.1%, p = 0.011), higher end-systolic volume (45 ± 24 [23 ± 11] vs. 33 ± 12 [18 ± 5] ml [ml/m2], p = 0.027 [p = 0.041]), greater maximum thickness of the ventricular wall (21.9 ± 5.2 vs. 16.4 ± 2.8 mm, p < 0.001) and increased left ventricular mass (192.8 ± 58.1 [98.5 ± 27.0] vs. 157.5 ± 50.4 [82.8 ± 21.5] g[g/m2], p < 0.001 [p = 0.001]). In a logistic regression analysis, only ejection fraction (p = 0.034) and maximum wall thickness (p < 0.001) were independently associated with the presence of fibrosis. Among those with myocardial fibrosis, a greater mass of fibrosis correlated with a lower ejection fraction (r = -0.42, p = 0.003), lower end-systolic volumes (r = 0.56, p < 0.001), greater maximum thickness wall (r = 0.28, p = 0.024) and increased left ventricular mass (r = 0.35, p = 0.017). On the multivariate analysis, only the stroke volume (p < 0.001) and maximum thickness (p = 0.020) were correlated with the mass of myocardial fibrosis. However, when we analyzed the burden of fibrosis in relation to left ventricular mass (percentage of fibrosis) only greater end-systolic volume was independently associated with a higher percentage of fibrosis (r = 0.48, p < 0.001). Conclusions The presence of myocardial fibrosis in patients with HCM is independently related to lower ejection fraction and higher maximum thickness of the ventricular wall. The burden of fibrosis correlated independently with a higher maximum wall thickness (mass of fibrosis) and lower end-systolic volume (mass and percentage of fibrosis).
Objective The aim of this study was to compare image quality and radiation dose of coronary computed tomography (CT) angiography performed with dual-source CT scanner using 2 different protocols in patients with atrial fibrillation. Methods Forty-seven patients with AF underwent 2 different acquisition protocols: double high-pitch (DHP) spiral acquisition and retrospective spiral acquisition. The image quality was ranked according to a qualitative score by 2 experts: 1, no evident motion; 2, minimal motion not influencing coronary artery luminal evaluation; and 3, motion with impaired luminal evaluation. A third expert solved any disagreement. Results A total of 732 segments were evaluated. The DHP group (24 patients, 374 segments) showed more segments classified as score 1 than the retrospective spiral acquisition group (71.3% vs 37.4%). Image quality evaluation agreement was high between observers (κ = 0.8). There was significantly lower radiation exposure for the DHP group (3.65 [1.29] vs 23.57 [10.32] mSv). Conclusions In this original direct comparison, a DHP spiral protocol for coronary CT angiography acquisition in patients with atrial fibrillation resulted in lower radiation exposure and superior image quality compared with conventional spiral retrospective acquisition.
Background Dilated left ventricular volumes (VE) is one of the main factors of poor cardiovascular prognosis with systolic dysfunction. Myocardial fibrosis detected by late gadolinium enhancement (LGE) on cardiac magnetic resonance (CMR) has been recognized in recent years as an independent prognostic factor in dilated cardiomyopathy, in addition to guiding the etiological diagnosis, and most often the only noninvasive way to differentiate ischemic and nonischemic. The aim of our study was to determine the prevalence of myocardial fibrosis in patients with dilated LV and the morphological and functional differences between ischemic and non-ischemic patterns.