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50 result(s) for "Augustine, Allan"
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Disease risk and GVHD biomarkers can stratify patients for risk of relapse and nonrelapse mortality post hematopoietic cell transplant
The graft-versus-leukemia (GVL) effect after allogeneic hematopoietic cell transplant (HCT) can prevent relapse but the risk of severe graft-versus-host disease (GVHD) leads to prolonged intensive immunosuppression and possible blunting of the GVL effect. Strategies to reduce immunosuppression in order to prevent relapse have been offset by increases in severe GVHD and nonrelapse mortality (NRM). We recently validated the MAGIC algorithm probability (MAP) that predicts the risk for severe GVHD and NRM in asymptomatic patients using serum biomarkers. In this study we tested whether the MAP could identify patients whose risk for relapse is higher than their risk for severe GVHD and NRM. The multicenter study population (n = 1604) was divided into two cohorts: historical (2006–2015, n = 702) and current (2015–2017, n = 902) with similar NRM, relapse, and survival. On day 28 post-HCT, patients who had not developed GVHD (75% of the population) and who possessed a low MAP were at much higher risk for relapse (24%) than severe GVHD and NRM (16 and 9%); this difference was even more pronounced in patients with a high disease risk index (relapse 33%, NRM 9%). Such patients are good candidates to test relapse prevention strategies that might enhance GVL.
Echocardiographic assessment of the right heart in adults: a practical guideline from the British Society of Echocardiography
The structure and function of the right side of the heart is influenced by a wide range of physiological and pathological conditions. Quantification of right heart parameters is important in a variety of clinical scenarios including diagnosis, prognostication, and monitoring response to therapy. Although echocardiography remains the first-line imaging investigation for right heart assessment, published guidance is relatively sparse in comparison to that for the left ventricle. This guideline document from the British Society of Echocardiography describes the principles and practical aspects of right heart assessment by echocardiography, including quantification of chamber dimensions and function, as well as assessment of valvular function. While cut-off values for normality are included, a disease-oriented approach is advocated due to the considerable heterogeneity of structural and functional changes seen across the spectrum of diseases affecting the right heart. The complex anatomy of the right ventricle requires special considerations and echocardiographic techniques, which are set out in this document. The clinical relevance of right ventricular diastolic function is introduced, with practical guidance for its assessment. Finally, the relatively novel techniques of three-dimensional right ventricular echocardiography and right ventricular speckle tracking imaging are described. Despite these techniques holding considerable promise, issues relating to reproducibility and inter-vendor variation have limited their clinical utility to date.
Normal reference intervals for cardiac dimensions and function for use in echocardiographic practice: a guideline from the British Society of Echocardiography
This guideline presents reference limits for use in echocardiographic practice, updating previous guidance from the British Society of Echocardiography. The rationale for change is discussed, in addition to how the reference intervals were defined and the current limitations to their use. The importance of interpretation of echocardiographic parameters within the clinical context is explored, as is grading of abnormality. Each of the following echo parameters are discussed and updated in turn: left ventricular linear dimensions and LV mass; left ventricular volumes; left ventricular ejection fraction; left atrial size; right heart parameters; aortic dimensions; and tissue Doppler imaging. There are several important conceptual changes to the assessment of the heart’s structure and function within this guideline. New terminology for left ventricular function and left atrial size are introduced. The British Society of Echocardiography has advocated a new approach to the assessment of the aortic root, the right heart, and clarified the optimal methodology for assessment of LA size. The British Society of Echocardiography has emphasized a preference to use, where feasible, indexed measures over absolute values for any chamber size.
A practical guideline for performing a comprehensive transthoracic echocardiogram in adults: the British Society of Echocardiography minimum dataset
Since cardiac ultrasound was introduced into medical practice around the middle twentieth century, transthoracic echocardiography has developed to become a highly sophisticated and widely performed cardiac imaging modality in the diagnosis of heart disease. This evolution from an emerging technique with limited application, into a complex modality capable of detailed cardiac assessment has been driven by technological innovations that have both refined ‘standard’ 2D and Doppler imaging and led to the development of new diagnostic techniques. Accordingly, the adult transthoracic echocardiogram has evolved to become a comprehensive assessment of complex cardiac anatomy, function and haemodynamics. This guideline protocol from the British Society of Echocardiography aims to outline the minimum dataset required to confirm normal cardiac structure and function when performing a comprehensive standard adult echocardiogram and is structured according to the recommended sequence of acquisition. It is recommended that this structured approach to image acquisition and measurement protocol forms the basis of every standard adult transthoracic echocardiogram. However, when pathology is detected and further analysis becomes necessary, views and measurements in addition to the minimum dataset are required and should be taken with reference to the appropriate British Society of Echocardiography imaging protocol. It is anticipated that the recommendations made within this guideline will help standardise the local, regional and national practice of echocardiography, in addition to minimising the inter and intra-observer variation associated with echocardiographic measurement and interpretation.
Echocardiographic assessment of pulmonary hypertension: a guideline protocol from the British Society of Echocardiography
Pulmonary hypertension is defined as a mean arterial pressure of ≥25 mmHg as confirmed on right heart catheterisation. Traditionally, the pulmonary arterial systolic pressure has been estimated on echo by utilising the simplified Bernoulli equation from the peak tricuspid regurgitant velocity and adding this to an estimate of right atrial pressure. Previous studies have demonstrated a correlation between this estimate of pulmonary arterial systolic pressure and that obtained from invasive measurement across a cohort of patients. However, for an individual patient significant overestimation and underestimation can occur and the levels of agreement between the two is poor. Recent guidance has suggested that echocardiographic assessment of pulmonary hypertension should be limited to determining the probability of pulmonary hypertension being present rather than estimating the pulmonary artery pressure. In those patients in whom the presence of pulmonary hypertension requires confirmation, this should be done with right heart catheterisation when indicated. This guideline protocol from the British Society of Echocardiography aims to outline a practical approach to assessing the probability of pulmonary hypertension using echocardiography and should be used in conjunction with the previously published minimum dataset for a standard transthoracic echocardiogram.
Echocardiographic assessment of the tricuspid and pulmonary valves: a practical guideline from the British Society of Echocardiography
Transthoracic echocardiography is the first-line imaging modality in the assessment of right-sided valve disease. The principle objectives of the echocardiographic study are to determine the aetiology, mechanism and severity of valvular dysfunction, as well as consequences on right heart remodelling and estimations of pulmonary artery pressure. Echocardiographic data must be integrated with symptoms, to inform optimal timing and technique of interventions. The most common tricuspid valve abnormality is regurgitation secondary to annular dilatation in the context of atrial fibrillation or left-sided heart disease. Significant pulmonary valve disease is most commonly seen in congenital heart abnormalities. The aetiology and mechanism of tricuspid and pulmonary valve disease can usually be identified by 2D assessment of leaflet morphology and motion. Colour flow and spectral Doppler are required for assessment of severity, which must integrate data from multiple imaging planes and modalities. Transoesophageal echo is used when transthoracic data is incomplete, although the anterior position of the right heart means that transthoracic imaging is often superior. Three-dimensional echocardiography is a pivotal tool for accurate quantification of right ventricular volumes and regurgitant lesion severity, anatomical characterisation of valve morphology and remodelling pattern, and procedural guidance for catheter-based interventions. Exercise echocardiography may be used to elucidate symptom status and demonstrate functional reserve. Cardiac magnetic resonance and CT should be considered for complimentary data including right ventricular volume quantification, and precise cardiac and extracardiac anatomy. This British Society of Echocardiography guideline aims to give practical advice on the standardised acquisition and interpretation of echocardiographic data relating to the pulmonary and tricuspid valves.
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease
Stacy Steinberg, Hreinn Stefansson, Thorlakur Jonsson and colleagues found that rare variants predicted to alter the function of ABCA7 are associated with risk of Alzheimer's disease. The association was found in Iceland and replicated in northern Europe and the United States. We conducted a search for rare, functional variants altering susceptibility to Alzheimer's disease that exploited knowledge of common variants associated with the same disease. We found that loss-of-function variants in ABCA7 confer risk of Alzheimer's disease in Icelanders (odds ratio (OR) = 2.12, P = 2.2 × 10 −13 ) and discovered that the association replicated in study groups from Europe and the United States (combined OR = 2.03, P = 6.8 × 10 −15 ).
Variant of TREM2 Associated with the Risk of Alzheimer's Disease
This study shows that a variant of TREM2 , which encodes a protein that suppresses inflammation, causes susceptibility to Alzheimer's disease. Although the variant is rare, its effect on the risk of disease is similar to that of the ε4 allele of apolipoprotein E. Alzheimer's disease, the most common form of dementia in the elderly, is a neurodegenerative disorder that is characterized by a slow but progressive loss of cognitive function. Extracellular amyloid plaques, intracellular neurofibrillary tangles, and loss of neurons and synapses resulting in brain atrophy are the main pathological hallmarks of Alzheimer's disease. 1 Disease onset is usually after the age of 70 years, although the prevalence increases exponentially with age after the age of 65 years and exceeds 25% in those over the age of 90 years. 2 The vast majority of variants in the sequence of the genome that have been shown . . .
Echocardiographic assessment of aortic stenosis: a practical guideline from the British Society of Echocardiography
The guideline provides a practical step-by-step guide in order to facilitate high-quality echocardiographic studies of patients with aortic stenosis. In addition, it addresses commonly encountered yet challenging clinical scenarios and covers the use of advanced echocardiographic techniques, including TOE and Dobutamine stress echocardiography in the assessment of aortic stenosis.