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Positive remodeling (PR) is an atherosclerotic plaque feature defined as an increase in arterial caliber at the level of an atheroma, in response to increasing plaque burden. The mechanisms that lead to its formation are incompletely understood, but its role in coronary atherosclerosis has major clinical implications. Indeed, plaques with PR have elevated risk of provoking acute cardiac events. Hence, PR figures among the high-risk plaque features that cardiac imaging studies should report. This review aims to provide an overview of the current literature on coronary PR. It outlines the pathophysiology of PR, the different techniques used to assess its presence, and the imaging findings associated to PR, on both noninvasive and invasive studies. This review also summarizes clinical observations, trials, and studies, focused on the impact of PR on clinical outcome.
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OBJECTIVE: This work aimed to derive a machine learning (ML) model for the differentiation between ischemic cardiomyopathy (ICM) and non-ischemic cardiomyopathy (NICM) on non-contrast cardiovascular magnetic resonance (CMR). METHODS: This retrospective study evaluated CMR scans of 107 consecutive patients (49 ICM, 58 NICM), including atrial and ventricular strain parameters. We used these data to compare an explainable tree-based gradient boosting additive model with four traditional ML models for the differentiation of ICM and NICM. The models were trained and internally validated with repeated cross-validation according to discrimination and calibration. Furthermore, we examined important variables for distinguishing between ICM and NICM. RESULTS: A total of 107 patients and 38 variables were available for the analysis. Of those, 49 were ICM (34 males, mean age 60 ± 9 years) and 58 patients were NICM (38 males, mean age 56 ± 19 years). After 10 repetitions of the tenfold cross-validation, the proposed model achieved the highest area under curve (0.82, 95% CI [0.47-1.00]) and lowest Brier score (0.19, 95% CI [0.13-0.27]), showing competitive diagnostic accuracy and calibration. At the Youden's index, sensitivity was 0.72 (95% CI [0.68-0.76]), the highest of all. Analysis of predictions revealed that both atrial and ventricular strain CMR parameters were important for the identification of ICM patients. CONCLUSION: The current study demonstrated that using a ML model, multi chamber myocardial strain, and function on non-contrast CMR parameters enables the discrimination between ICM and NICM with competitive diagnostic accuracy. CLINICAL RELEVANCE STATEMENT: A machine learning model based on non-contrast cardiovascular magnetic resonance parameters may discriminate between ischemic and non-ischemic cardiomyopathy enabling wider access to cardiovascular magnetic resonance examinations with lower costs and faster imaging acquisition. KEY POINTS: ⢠The exponential growth in cardiovascular magnetic resonance examinations may require faster and more cost-effective protocols. ⢠Artificial intelligence models can be utilized to distinguish between ischemic and non-ischemic etiologies. ⢠Machine learning using non-contrast CMR parameters can effectively distinguish between ischemic and non-ischemic cardiomyopathies.
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Cardiomiopatias , Aprendizado de Máquina , Imagem Cinética por Ressonância Magnética , Isquemia Miocárdica , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Cardiomiopatias/diagnóstico por imagem , Estudos Retrospectivos , Isquemia Miocárdica/diagnóstico por imagem , Imagem Cinética por Ressonância Magnética/métodos , Diagnóstico Diferencial , Idoso , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
OBJECTIVE: Our study aimed to explore with cardiovascular magnetic resonance (CMR) the impact of left atrial (LA) and left ventricular (LV) myocardial strain in patients with acute pericarditis and to investigate their possible prognostic significance in adverse outcomes. METHOD: This retrospective study performed CMR scans in 36 consecutive patients with acute pericarditis (24 males, age 52 [23-52]). The primary endpoint was the combination of recurrent pericarditis, constrictive pericarditis, and surgery for pericardial diseases defined as pericardial events. Atrial and ventricular strain function were performed on conventional cine SSFP sequences. RESULTS: After a median follow-up time of 16 months (interquartile range [13-24]), 12 patients with acute pericarditis reached the primary endpoint. In multivariable Cox regression analysis, LA reservoir and LA conduit strain parameters were all independent determinants of adverse pericardial diseases. Conversely, LV myocardial strain parameters did not remain an independent predictor of outcome. With receiving operating characteristics curve analysis, LA conduit and reservoir strain showed excellent predictive performance (area under the curve of 0.914 and 0.895, respectively) for outcome prediction at 12 months. CONCLUSION: LA reservoir and conduit mechanisms on CMR are independently associated with a higher risk of adverse pericardial events. Including atrial strain parameters in the management of acute pericarditis may improve risk stratification. CLINICAL RELEVANCE STATEMENT: Atrial strain could be a suitable non-invasive and non-contrast cardiovascular magnetic resonance parameter for predicting adverse pericardial complications in patients with acute pericarditis. KEY POINTS: ⢠Myocardial strain is a well-validated CMR parameter for risk stratification in cardiovascular diseases. ⢠LA reservoir and conduit functions are significantly associated with adverse pericardial events. ⢠Atrial strain may serve as an additional non-contrast CMR parameter for stratifying patients with acute pericarditis.
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Imagem Cinética por Ressonância Magnética , Pericardite , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Pericardite/diagnóstico por imagem , Adulto , Estudos Retrospectivos , Projetos Piloto , Imagem Cinética por Ressonância Magnética/métodos , Prognóstico , Átrios do Coração/diagnóstico por imagem , Átrios do Coração/fisiopatologia , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/fisiopatologia , Adulto Jovem , Valor Preditivo dos TestesRESUMO
Stable chest pain is a common symptom with multiple potential causes. Non-invasive imaging has an important role in diagnosis and guiding management through the assessment of coronary stenoses, atherosclerotic plaque, myocardial ischaemia or infarction, and cardiac function. Computed tomography (CT) provides the anatomical evaluation of coronary artery disease (CAD) with the assessment of stenosis, plaque type and plaque burden, with additional functional information available from CT fractional flow reserve (FFR) or CT myocardial perfusion imaging. Stress magnetic resonance imaging, nuclear stress myocardial perfusion imaging, and stress echocardiography can assess myocardial ischaemia and other cardiac functional parameters. Coronary CT angiography can be used as a first-line test for many patients with stable chest pain, particularly those with low to intermediate pre-test probability. Functional testing may be considered for patients with known CAD, where the clinical significance is uncertain based on anatomical testing, or in patients with high pre-test probability. This practice recommendations document can be used to guide the selection of non-invasive imaging for patients with stable chest pain and provides brief recommendations on how to perform and report these diagnostic tests. KEY POINTS: The selection of non-invasive imaging tests for patients with stable chest pain should be based on symptoms, pre-test probability, and previous history. Coronary CT angiography can be used as a first-line test for many patients with stable chest pain, particularly those with low to intermediate pre-test probability. Functional testing can be considered for patients with known CAD, where the clinical significance of CAD is uncertain based on anatomical testing, or in patients with high pre-test probability. KEY RECOMMENDATIONS: Non-invasive imaging is an important part of the assessment of patients with stable chest pain. The selection of non-invasive imaging test should be based on symptoms, pre-test probability, and previous history. (Level of evidence: High). Coronary CT angiography can be used as a first line test for many patients with stable chest pain, particularly those with low to intermediate pre-test probability. CT provides information on stenoses, plaque type, plaque volume, and if required functional information with CT fractional flow reserve or CT perfusion. (Level of evidence: High). Functional testing can be considered for patients with known CAD, where the clinical significance of CAD is uncertain based on anatomical testing, or in patients with high pre-test probability. Stress MRI, SPECT, PET, and echocardiography can provide information on myocardial ischemia, along with cardiac functional and other information. (Level of evidence: Medium).
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Dor no Peito , Humanos , Dor no Peito/diagnóstico por imagem , Dor no Peito/etiologia , Angiografia por Tomografia Computadorizada/métodos , Angiografia Coronária/métodos , Imageamento por Ressonância Magnética/métodos , Doença da Artéria Coronariana/diagnóstico por imagem , Doença da Artéria Coronariana/complicações , Tomografia Computadorizada por Raios X/métodos , Imagem de Perfusão do Miocárdio/métodosRESUMO
RATIONALE: To provide an overview of the current status of cardiac multimodality imaging practices in Europe and radiologist involvement using data from the European Society of Cardiovascular Radiology (ESCR) MRCT-registry. MATERIALS AND METHODS: Numbers on cardiac CT and MRI examinations were extracted from the MRCT-registry of the ESCR, entered between January 2011 and October 2023 (n = 432,265). Data collection included the total/annual numbers of examinations, indications, complications, and reporting habits. RESULTS: Thirty-two countries contributed to the MRCT-registry, including 29 European countries. Between 2011 and 2022, there was a 4.5-fold increase in annually submitted CT examinations, from 3368 to 15,267, and a 3.8-fold increase in MRI examinations, from 3445 to 13,183. The main indications for cardiac CT were suspected coronary artery disease (CAD) (59%) and transcatheter aortic valve replacement planning (21%). The number of patients with intermediate pretest probability who underwent CT for suspected CAD showed an increase from 61% in 2012 to 82% in 2022. The main MRI indications were suspected myocarditis (26%), CAD (21%), and suspected cardiomyopathy (19%). Adverse event rates were very low for CT (0.3%) and MRI (0.7%) examinations. Reporting of CT and MRI examinations was performed mainly by radiologists (respectively 76% and 71%) and, to a lesser degree, in consensus with non-radiologists (19% and 27%, respectively). The remaining examinations (4.9% CT and 1.7% MRI) were reported by non-radiological specialties or in separate readings of radiologists and non-radiologists. CONCLUSIONS: Real-life data on cardiac imaging in Europe using the largest available MRCT-registry demonstrate a considerable increase in examinations over the past years, the vast majority of which are read by radiologists. These findings indicate that radiologists contribute to meeting the increasing demands of competent and effective care in cardiac imaging to a relevant extent. CLINICAL RELEVANCE STATEMENT: The number of cardiac CT and MRI examinations has risen over the past years, and radiologists read the vast majority of these studies as recorded in the MRCT-registry. KEY POINTS: ⢠The number of cardiac imaging examinations is constantly increasing. ⢠Radiologists play a central role in providing cardiac CT and MR imaging services to a large volume of patients. ⢠Cardiac CT and MR imaging examinations performed and read by radiologists show a good safety profile.
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Competência Clínica , Imageamento por Ressonância Magnética , Radiologistas , Sistema de Registros , Tomografia Computadorizada por Raios X , Humanos , Europa (Continente) , Imageamento por Ressonância Magnética/métodos , Tomografia Computadorizada por Raios X/métodos , Radiologistas/estatística & dados numéricos , Cardiopatias/diagnóstico por imagem , MasculinoRESUMO
This position statement guides cardiovascular magnetic resonance (CMR) imaging program directors and learners on the key competencies required for Level II and III CMR practitioners, whether trainees come from a radiology or cardiology background. This document is built upon existing curricula and was created and vetted by an international panel of cardiologists and radiologists on behalf of the Society for Cardiovascular Magnetic Resonance (SCMR).
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Cardiologia , Competência Clínica , Consenso , Currículo , Educação de Pós-Graduação em Medicina , Imageamento por Ressonância Magnética , Humanos , Educação de Pós-Graduação em Medicina/normas , Imageamento por Ressonância Magnética/normas , Cardiologia/educação , Cardiologia/normas , Doenças Cardiovasculares/diagnóstico por imagem , Cardiologistas/educação , Cardiologistas/normas , Valor Preditivo dos Testes , Radiologistas/educação , Radiologistas/normas , Radiologia/educação , Radiologia/normas , Sociedades Médicas/normasRESUMO
Takotsubo syndrome (TS) is a temporary form of left ventricular (LV) dysfunction characterized by a distinct pattern of LV impairment, often triggered by a physical or emotional stressful event. Historically, TS was considered a benign condition due to its prompt restoration of myocardial function and generally excellent outcomes. However, recent studies have shown that complications similar to those seen after myocardial infarction can occur, necessitating careful monitoring of these patients. Among noninvasive imaging techniques, cardiovascular magnetic resonance (CMR) is becoming increasingly important in evaluating patients with TS. CMR offers a unique ability to noninvasively assess myocardial tissue characteristics, allowing for detecting the typical features of TS, such as specific wall motion abnormalities and myocardial edema. Beyond its well-established diagnostic utility in the clinical management of TS, CMR has also proven valuable in prognosis and risk stratification for these patients. Advances in CMR, including myocardial strain and parametric mapping have expanded its role in the diagnosis, prognosis, and follow-up of these patients. This review aims to provide a comprehensive overview of the potential applications of CMR in the diagnostic and prognostic evaluation of TS patients. It explores the emerging use of novel CMR imaging biomarkers that may enhance diagnosis, improve prognostic accuracy, and contribute to the overall management of these patients.
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Imagem Cinética por Ressonância Magnética , Cardiomiopatia de Takotsubo , Cardiomiopatia de Takotsubo/diagnóstico por imagem , Cardiomiopatia de Takotsubo/fisiopatologia , Cardiomiopatia de Takotsubo/diagnóstico , Humanos , Prognóstico , Imagem Cinética por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética/métodosRESUMO
Cardiac computed tomography (CT) and cardiac magnetic resonance imaging (MRI) are routine radiological examinations for diagnosis and prognosis of cardiac disease. The expected growth in cardiac radiology in the coming years will exceed the current scanner capacity and trained workforce. The European Society of Cardiovascular Radiology (ESCR) focuses on supporting and strengthening the role of cardiac cross-sectional imaging in Europe from a multi-modality perspective. Together with the European Society of Radiology (ESR), the ESCR has taken the initiative to describe the current status of, a vision for, and the required activities in cardiac radiology to sustain, increase and optimize the quality and availability of cardiac imaging and experienced radiologists across Europe. KEY POINTS: ⢠Providing adequate availability for performing and interpreting cardiac CT and MRI is essential, especially with expanding indications. ⢠The radiologist has a central role in non-invasive cardiac imaging examinations which encompasses the entire process from selecting the best modality to answer the referring physician's clinical question to long-term image storage. ⢠Optimal radiological education and training, knowledge of the imaging process, regular updating of diagnostic standards, and close collaboration with colleagues from other specialties are essential.
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Cardiopatias , Radiologia , Humanos , Radiologia/educação , Coração , Radiografia , Imageamento por Ressonância Magnética , Europa (Continente)RESUMO
The European Society of Cardiovascular Radiology (ESCR) is the European specialist society of cardiac and vascular imaging. This society's highest priority is the continuous improvement, development, and standardization of education, training, and best medical practice, based on experience and evidence. The present intra-society consensus is based on the existing scientific evidence and on the individual experience of the members of the ESCR writing group on carotid diseases, the members of the ESCR guidelines committee, and the members of the executive committee of the ESCR. The recommendations published herein reflect the evidence-based society opinion of ESCR. The purpose of this second document is to discuss suggestions for standardized reporting based on the accompanying consensus document part I. KEY POINTS: ⢠CT and MR imaging-based evaluation of carotid artery disease provides essential information for risk stratification and prediction of stroke. ⢠The information in the report must cover vessel morphology, description of stenosis, and plaque imaging features. ⢠A structured approach to reporting ensures that all essential information is delivered in a standardized and consistent way to the referring clinician.
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Doenças das Artérias Carótidas , Radiologia , Humanos , Consenso , Imageamento por Ressonância Magnética/métodos , Doenças das Artérias Carótidas/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodosRESUMO
The European Society of Cardiovascular Radiology (ESCR) is the European specialist society of cardiac and vascular imaging. This society's highest priority is the continuous improvement, development, and standardization of education, training, and best medical practice, based on experience and evidence. The present intra-society consensus is based on the existing scientific evidence and on the individual experience of the members of the ESCR writing group on carotid diseases, the members of the ESCR guidelines committee, and the members of the executive committee of the ESCR. The recommendations published herein reflect the evidence-based society opinion of ESCR. We have produced a twin-papers consensus, indicated through the documents as respectively "Part I" and "Part II." The first document (Part I) begins with a discussion of features, role, indications, and evidence for CT and MR imaging-based diagnosis of carotid artery disease for risk stratification and prediction of stroke (Section I). It then provides an extensive overview and insight into imaging-derived biomarkers and their potential use in risk stratification (Section II). Finally, detailed recommendations about optimized imaging technique and imaging strategies are summarized (Section III). The second part of this consensus paper (Part II) is focused on structured reporting of carotid imaging studies with CT/MR. KEY POINTS: ⢠CT and MR imaging-based evaluation of carotid artery disease provides essential information for risk stratification and prediction of stroke. ⢠Imaging-derived biomarkers and their potential use in risk stratification are evolving; their correct interpretation and use in clinical practice must be well-understood. ⢠A correct imaging strategy and scan protocol will produce the best possible results for disease evaluation.
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Aterosclerose , Doenças das Artérias Carótidas , Radiologia , Acidente Vascular Cerebral , Humanos , Consenso , Tomografia Computadorizada por Raios X/métodos , Doenças das Artérias Carótidas/diagnóstico por imagem , Imageamento por Ressonância Magnética , Padrões de ReferênciaRESUMO
Buffalo farming is an important livestock activity in Mexico. However, the low technological level of the farms makes it difficult to monitor the growth rates of the animals. The objectives of this study were to analyse the body measurements of 107 adult female Murrah buffaloes, to estimate the interrelationships between those measurements and body weight, and to develop equations to predict body weight (BW) using body measurements including withers at height (WH), rump height (RH), body height (BH), heart girth (HG), abdominal girth (AG), pelvic girth (PG), body length (BL), girth circumference (GC), diagonal body length (DBL), pelvic circumference (PC), and abdomen circumference (AC). The study was conducted on two commercial farms in southern Mexico. Pearson correlation and stepwise regression techniques were used for the data analysis. To find out the best regression models, we used model quality criteria such as coefficient of determination (R2), adjusted R2 (Adj.R2), root mean square error (RMSE), Mallow's Cp, Akaike's information criteria (AIC), Bayesian information criteria (BIC), and coefficient of variation (CV). Correlation results indicated that BW had a positive high correlation (P < 0.01) of all the measured traits. Model 4 (-780.56 + 311.76GC + 383.51DBL + 51.82PC + 47.65AC-106.78BL) was the best regression model with a higher R2 (0.87), Adj. R2 (0.86) smaller Cp (4.24), AIC (749.19), BIC (752.16), and RMSE (36.91). The current study suggests that GC, DBL, PC, AC, and BL might be used in combination to estimate BW of adult female Murrah buffaloes.
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Bison , Búfalos , Feminino , Animais , Teorema de Bayes , México , Peso Corporal , Análise de RegressãoRESUMO
OBJECTIVES: To compare the use of coronary computed tomography angiography (CCTA) between academic and non-academic sites across Europe over the last decade. METHODS: We analyzed a large multicenter registry (ESCR MR/CT Registry) of stable symptomatic patients who received CCTA 01/2010-01/2020 at 47 (22%) academic and 165 (78%) non-academic sites across 19 European countries. We compared image quality, radiation dose, contrast-media-related adverse events, patient characteristics, CCTA findings, and downstream testing between academic and non-academic sites. RESULTS: Among 64,317 included patients (41% female; 60 ± 13 years), academic sites accounted for most cases in 2010-2014 (52%), while non-academic sites dominated in 2015-2020 (71%). Despite less contemporary technology, non-academic sites maintained low radiation doses (4.76 [2.46-6.85] mSv) with a 30% decline of high-dose scans ( > 7 mSv) over time. Academic and non-academic sites both reported diagnostic image quality in 98% of cases and low rate of scan-related adverse events (0.4%). Academic and non-academic sites examined similar patient populations (41% females both; age: 61 ± 14 vs. 60 ± 12 years; pretest probability for obstructive CAD: low 21% vs. 23%, intermediate 73% vs. 72%, high 6% both, CAD prevalence on CCTA: 40% vs. 41%). Nevertheless, non-academic sites referred more patients to non-invasive ischemia testing (6.5% vs. 4.2%) and invasive coronary angiography/surgery (8.5% vs. 5.6%). CONCLUSIONS: Non-academic and academic sites provide safe, high-quality CCTA across Europe, essential to successfully implement the recently updated guidelines for the diagnosis and management of chronic coronary syndromes. However, despite examining similar populations with comparable CAD prevalence, non-academic sites tend to refer more patients to downstream testing. KEY POINTS: ⢠Smaller non-academic providers increasingly use CCTA to rule out obstructive coronary artery disease. ⢠Non-academic and academic sites provide comparably safe, high-quality CCTA across Europe. ⢠Compared to academic sites, non-academic sites tend to refer more patients to downstream testing.
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Angiografia por Tomografia Computadorizada , Doença da Artéria Coronariana , Idoso , Angiografia por Tomografia Computadorizada/métodos , Angiografia Coronária/métodos , Doença da Artéria Coronariana/diagnóstico por imagem , Doença da Artéria Coronariana/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Tomografia Computadorizada por Raios XRESUMO
The present study aimed at the morphometric characterization of the native Guajolote reared in two regions of Mexico using multivariate analysis techniques. Data from a total of 362 unrelated native Guajolotes (257 males and 105 females) were used: of these, 160 were from the Central region and 202 were from the Southeast region. The birds were also grouped according to age, as youngs (≤ 8 months; n = 150) and adults (≥ 9 months; n = 212). The body weight (BW) and nine morphometric measurements-chest circumference (CC), body length (BL), body height (BH), neck length (NL), peak length (PL), shank length (SL), shank diameter (SD), wing length (WL) and wing width (WW)-were measured. There were significant differences (p < 0.05) due to the effect of region, sex and age for most of the morphometric measurements evaluated. There was a high percentage of positive and significant correlations (p < 0.001; p < 0.01) between the variables. In each region, three principal components were extracted that represented more than 75% of the accumulated variation among the variables. The most discriminating morphometric measurements between populations were WW, PL and NL. The Mahalanobis distance between the males and females of the two populations was 37.457 and 29.310 (p < 0.001), respectively. This differentiation can contribute to the definition of the phenotypic standard of this poultry genetic resource for its official recognition as a breed, as well as in the orientation of its genetic improvement programs in the future.
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Aves , Perus , Animais , Peso Corporal , Feminino , Masculino , México , Análise MultivariadaRESUMO
The objective of this study was to develop and evaluate linear, quadratic, and exponential mathematical models to predict live weight (LW) from heart girth (HG) in crossbred heifers raised in tropical humid conditions in Mexico. Live weight (363.32 ± 150.88 kg) and HG (166.83 ± 24.88 cm) were measured in 400 heifers aged between 3 and 24 months. Linear and non-linear regression was used to construct the prediction models. The goodness of fit of the models was evaluated using the Akaike information criterion (AIC), the Bayesian information criterion (BIC), coefficient of determination (R2), mean squared error (MSE), and root MSE (RMSE). In addition, the developed models were evaluated through internal and external cross-validation (k-folds) using independent data. The ability of the fitted models to predict the observed values was evaluated based on the root mean square error of prediction (RMSEP), R2, and mean absolute error (MAE). The correlation coefficient between LW and HG was r = 0.98 (P < 0.001). The quadratic model showed the lowest values of MAE (736.57), RMSEP (27.13), AIC (3783.95), and BIC (3799.91). Additionally, this model exhibited better goodness-of-fit values regarding external and internal validation criteria (higher R2 and lower RMSEP and MAE), thus having better predictive performance. The RMSE represented about 8% of the observed LW. Heart girth is highly correlated (r = 0.98) with LW. The quadratic model showed a high predictive capacity for crossbred heifers kept in tropical conditions.
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Coração , Animais , Teorema de Bayes , Bovinos , Feminino , MéxicoRESUMO
Machine learning offers great opportunities to streamline and improve clinical care from the perspective of cardiac imagers, patients, and the industry and is a very active scientific research field. In light of these advances, the European Society of Cardiovascular Radiology (ESCR), a non-profit medical society dedicated to advancing cardiovascular radiology, has assembled a position statement regarding the use of machine learning (ML) in cardiovascular imaging. The purpose of this statement is to provide guidance on requirements for successful development and implementation of ML applications in cardiovascular imaging. In particular, recommendations on how to adequately design ML studies and how to report and interpret their results are provided. Finally, we identify opportunities and challenges ahead. While the focus of this position statement is ML development in cardiovascular imaging, most considerations are relevant to ML in radiology in general. KEY POINTS: ⢠Development and clinical implementation of machine learning in cardiovascular imaging is a multidisciplinary pursuit. ⢠Based on existing study quality standard frameworks such as SPIRIT and STARD, we propose a list of quality criteria for ML studies in radiology. ⢠The cardiovascular imaging research community should strive for the compilation of multicenter datasets for the development, evaluation, and benchmarking of ML algorithms.
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Aprendizado de Máquina , Radiologia , Algoritmos , Humanos , Radiografia , Sociedades MédicasRESUMO
BACKGROUND: Focal dermal hypoplasia (FDH) is rare X-linked dominant disease characterized by atrophy and linear pigmentation of the skin, split hand/foot deformities and ocular anomalies. FDH is caused by mutations of the Porcupine (PORCN) gene, which encodes an enzyme that catalyzes the palmitoylation of Wnt ligands required for their secretion. High resolution melting analysis (HRM) is a technique that allows rapid, labor-efficient, low-cost detection of genomic variants. In the present study, we report the successful implementation of HRM in the molecular diagnosis of FDH. METHODS: Polymerase chain reaction and HRM assays were designed and optimized for each of the coding exons of the PORCN gene, processing genomic DNA samples form a non-affected control and a patient complying with the FDH diagnostic criteria. The causal mutation was characterized by Sanger sequencing from an amplicon showing a HRM trace suggesting heterozygous variation and was validated using an amplification-refractory mutation system (ARMS) assay. RESULTS: The melting profiles suggested the presence of a variant in the patient within exon 1. Sanger sequencing revealed a previously unknown C to T transition replacing a glutamine codon for a premature stop codon at position 28, which was validated using ARMS. CONCLUSIONS: Next-generation sequencing facilitates the molecular diagnosis of monogenic disorders; however, its cost-benefit ratio is not optimal when a single, small or medium size causal gene is already identified and the clinical diagnostic presumption is strong. Under those conditions, as it is the case for FDH, HRM represents a cost- and labor-effective approach.
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Aciltransferases/genética , Éxons/genética , Hipoplasia Dérmica Focal/diagnóstico , Hipoplasia Dérmica Focal/genética , Proteínas de Membrana/genética , Desnaturação de Ácido Nucleico/genética , Sequência de Aminoácidos , Códon sem Sentido , Feminino , Hipoplasia Dérmica Focal/fisiopatologia , Heterozigoto , Humanos , Lactente , Mutação , Filogenia , Reação em Cadeia da Polimerase/métodos , Alinhamento de SequênciaRESUMO
Transcatheter aortic valve replacement (TAVR) is a minimally invasive alternative to conventional aortic valve replacement in symptomatic patients with severe aortic stenosis and contraindications to surgery. The procedure has shown to improve patient's quality of life and prolong short- and mid-term survival in high-risk individuals, becoming a widely accepted therapeutic option which has been integrated into current clinical guidelines for the management of valvular heart disease. Nevertheless, not every patient at high-risk for surgery is a good candidate for TAVR. Besides clinical selection, which is usually established by the Heart Team, certain technical and anatomic criteria must be met as, unlike in surgical valve replacement, annular sizing is not performed under direct surgical evaluation but on the basis of non-invasive imaging findings. Present consensus document was outlined by a working group of researchers from the European Society of Cardiovascular Radiology (ESCR) and aims to provide guidance on the utilisation of CT and MR imaging prior to TAVR. Particular relevance is given to the technical requirements and standardisation of the scanning protocols which have to be tailored to the remarkable variability of the scanners currently utilised in clinical practice; recommendations regarding all required pre-procedural measurements and medical reporting standardisation have been also outlined, in order to ensure quality and consistency of reported data and terminology. KEY POINTS: ⢠To provide a reference document for CT and MR acquisition techniques, taking into account the significant technological variation of available scanners. ⢠To review all relevant measurements that are required and define a step-by-step guided approach for the measurements of different structures implicated in the procedure. ⢠To propose a CT/MR reporting template to assist in consistent communication between various sites and specialists involved in the procedural planning.
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Estenose da Valva Aórtica/diagnóstico por imagem , Valva Aórtica/anormalidades , Valva Aórtica/diagnóstico por imagem , Calcinose/diagnóstico por imagem , Doenças das Valvas Cardíacas/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Tomografia Computadorizada Multidetectores/métodos , Cuidados Pré-Operatórios , Substituição da Valva Aórtica Transcateter , Valva Aórtica/cirurgia , Estenose da Valva Aórtica/cirurgia , Doença da Válvula Aórtica Bicúspide , Consenso , Humanos , Imageamento Tridimensional , Imagem Cinética por Ressonância Magnética , Qualidade de Vida , Tomografia Computadorizada por Raios X/métodosRESUMO
The original version of this article, published on 05 September 2019, unfortunately contained a mistake. The image of "Jena Valve" in Table 3 was incorrect.
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BACKGROUND: Midgut volvulus is a rare cause of acute abdomen characterized by a twisting of the entire small intestine around its mesenteric pedicle. It is a well-known complication of intestinal malrotation usually occurring in infants and young children. We report a rare case of a midgut volvulus without any underlying condition occurring in a young adult. CASE PRESENTATION: A 24-year-old male was admitted to our surgical department with symptoms and signs of small bowel obstruction. The abdominal computed tomography (CT) scan showed dilatation of the entire small intestine and a rotation of the mesentery. The patient underwent an urgent explorative laparoscopy with conversion to median laparotomy, revealing a midgut volvulus with marked intestinal ischemia. Mesenteric fixation was normal but the mesenteric pedicle was described as relatively narrow. The midgut volvulus was untwisted with subsequent recovery of the intestinal ischemia. RESULTS: The postoperative period was marked by prolonged ileus requiring nasogastric tube decompression that gradually resolved after 1 week. The patient was discharged on the tenth postoperative day. He had fully resumed his daily activities 1 month after surgery and had experienced no recurrent symptoms 6 months later. CONCLUSION: Primary midgut volvulus is an extremely rare condition that must be considered in all young adults presenting with intestinal obstruction without previous abdominal surgery. Early diagnosis and immediate surgical intervention are the key factors to a successful outcome.
Assuntos
Anormalidades do Sistema Digestório/diagnóstico , Obstrução Intestinal/diagnóstico , Volvo Intestinal/diagnóstico , Anormalidades do Sistema Digestório/etiologia , Anormalidades do Sistema Digestório/cirurgia , Humanos , Obstrução Intestinal/etiologia , Obstrução Intestinal/cirurgia , Volvo Intestinal/etiologia , Volvo Intestinal/cirurgia , Masculino , Adulto JovemRESUMO
AIMS: In addition to increased risk of cardiovascular disease, the prevalence of diabetic cardiomyopathy is increasingly recognized in patients with type 1 diabetes mellitus (T1DM). We aimed to identify the occurrence of subclinical markers of cardiovascular risk and cardiac dysfunction and assess their relation to clinical parameters in asymptomatic patients with T1DM. METHODS AND RESULTS: A total of 102 patients (mean age 46 years [20-73], 62% male) with a history of T1DM ranging from 5 to 47 years underwent standard 2D and pulse-wave tissue Doppler echocardiography (Philips iE33) and computerized tomography for assessment of coronary calcium score (CACS) and visceral fat. Global peak longitudinal strain (GPLSS, speckle tracking) was calculated by offline analysis (Qlab 9.0). Whereas systolic function was preserved in all patients (LVEF > 50%), subclinical dysfunction (defined as global longitudinal peak systolic strain [GLPSS] of >-20%) was present in 39% and 66% had diastolic dysfunction. Fifty patients had a CACS above the 50th percentile according to age and gender. These patients were older, more obese, had higher levels of visceral fat, higher SBP and increased levels of LDL cholesterol. Higher CACS meant increased risk of diastolic and subclinical systolic dysfunction. However, decreased GLPSS was also detected in 30% of patients with CACS of <50th percentile. Stepwise linear regression analysis indicated visceral fat as a strong predictor of abnormal GPLSS and CACS. CONCLUSION: Subclinical left ventricular dysfunction and atherosclerosis were highly prevalent in asymptomatic T1DM. Abnormal GPLSS was noted with or without associated increase in CACS. Visceral fat was a strong predictor of increased CACS as well as abnormal GLPSS.