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Arngrimsson R.,University of Iceland | Barbey F.,University of Lausanne | Boks L.,A+ Network | Cecchi F.,University of Florence | And 26 more authors.
Orphanet Journal of Rare Diseases

Introduction: Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease progression. Since administration is burdensome and expensive, appropriate use is mandatory. We aimed to define European consensus recommendations for the initiation and cessation of ERT in patients with FD. Methods: A Delphi procedure was conducted with an online survey (n∈=∈28) and a meeting (n∈=∈15). Patient organization representatives were present at the meeting to give their views. Recommendations were accepted with 75% agreement and no disagreement. Results: For classically affected males, consensus was achieved that ERT is recommended as soon as there are early clinical signs of kidney, heart or brain involvement, but may be considered in patients of 16 years in the absence of clinical signs or symptoms of organ involvement. Classically affected females and males with non-classical FD should be treated as soon as there are early clinical signs of kidney, heart or brain involvement, while treatment may be considered in females with non-classical FD with early clinical signs that are considered to be due to FD. Consensus was achieved that treatment should not be withheld from patients with severe renal insufficiency (GFR < 45 ml/min/1.73 m2) and from those on dialysis or with cognitive decline, but carefully considered on an individual basis. Stopping ERT may be considered in patients with end stage FD or other co-morbidities, leading to a life expectancy of <1 year. In those with cognitive decline of any cause, or lack of response for 1 year when the sole indication for ERT is neuropathic pain, stopping ERT may be considered. Also, in patients with end stage renal disease, without an option for renal transplantation, in combination with advanced heart failure (NYHA class IV), cessation of ERT should be considered. ERT in patients who are non-compliant or fail to attend regularly at visits should be stopped. Conclusion: The recommendations can be used as a benchmark for initiation and cessation of ERT, although final decisions should be made on an individual basis. Future collaborative efforts are needed for optimization of these recommendations. © 2015 Biegstraaten et al.; licensee BioMed Central. Source

Cairoli R.,Niguarda Hospital | Beghini A.,University of Milan | Turrini M.,Niguarda Hospital | Bertani G.,Niguarda Hospital | And 9 more authors.
American Journal of Hematology

Acute myeloid leukemia (AML) with deranged core-binding factor beta (CBFβ) is usually associated with a favorable prognosis with 50-70% of patients cured using contemporary treatments. We analyzed the prognostic significance of clinical features on 58 patients with CBFβ-AML aged ≤60 years. Increasing age was the only predictor for survival (P <0.001), with an optimal cut-point at 43 years. White blood cells (WBCs) at diagnosis emerged as an independent risk factor for relapse incidence (P = 0.017), with 1.1% increase of hazard for each 1.0 × 109/L WBC increment. KIT mutations lacked prognostic value for survival and showed only a trend for relapse incidence (P = 0.069). © 2013 Wiley Periodicals, Inc. Source

Vettorello M.,Italy Emergency Operations Center and Helicopter Emergency Medical System | Vettorello M.,Anesthesia and Intensive Care Unit I | Santambrogio S.M.,Anesthesia and Intensive Care Unit I | Calini A.R.,Anesthesia and Intensive Care Unit I | And 8 more authors.
Acta Anaesthesiologica Scandinavica

Background Early recognition of hypovolaemia in trauma patients is very important. However, the most often used clinical signs, such as hypotension and tachycardia, lack specificity and sensitivity. Methods We propose a non-invasive index of hypovolaemia, the heart to arm time (iHAT), based on a modified pulse transit time indexed to heart rate. Pulse transit time is the sum of pre-ejection period and vascular transit time. Following pre-load reductions due to hypovolaemia, ventricular diastolic filling time increases causing an increase in pre-ejection-period, pulse transit time, and hence iHAT. One hundred and four consecutive patients with suspected major trauma were enrolled. The primary aim was to evaluate the use of the iHAT for detecting haemorrhage in major trauma. The secondary end point was to compare the specificity and sensitivity of iHAT compared to commonly used indexes. Results iHAT was calculated in 84 subjects, 11 of whom were haemorrhagic. iHAT discriminated haemorrhagic from non-haemorrhagic group (46.8% vs. 66.9%, P < 0.0001). The cut-off for iHAT with the best compromise between sensitivity (90.9%) and specificity (100%) was reached at the 58.78% level. Comparing haemorrhagic and non-haemorrhagic patients, the area under the ROC curve was 0.952 for iHAT, 0.835 for heart rate, and 0.911 for systolic blood pressure, showing no significant differences. Conclusions iHAT is a non-invasive index that can identify haemorrhage in trauma patients with high sensitivity and specificity. These data should be considered as an exploration, but any conclusion should be validated in a new set of consecutive patients. © 2013 The Acta Anaesthesiologica Scandinavica Foundation. Published by John Wiley & Sons Ltd. Source

Baldacchino A.,University of St. Andrews | Crocamo C.,University of Pavia | Humphris G.,University of St. Andrews | Neufeind J.,University of St. Andrews | And 3 more authors.
Computer Methods and Programs in Biomedicine

Background and objective: The application of e-health technology to the field of substance use disorders is at a relatively early stage, and methodological quality is still variable. Few have explored the extent of utilization of communication technology in exploring risk perception by patients enrolled in substance abuse services.The Overdose RIsk InfOrmatioN (ORION) project is a European Commission funded programme, aimed to develop and pilot an e-health psycho-educational tool to provide information to drug using individuals about the risks of suffering a drug overdose. Methods: In this article, we report on phase 1 (risk estimation), phase 2 (design), and phase 3 (feasibility) of the ORION project. Results: The development of ORION e-health tool underlined the importance of an evidence-based intervention aimed in obtaining reliable evaluation of risk. The ORION tool supported a decision making process aimed at influencing the substance users' self-efficacy and the degree to which the substance users' understand risk factors. Therefore, its innovative power consisted in translating risks combination into a clear estimation for the user who will then appear more likely to be interested in his/her risk perception. Conclusion: Exploratory field testing and validation confirmed the next stage of evaluation, namely, collection of routine patient samples in study clinics. The associations between risk perception of overdose, engagement with the ORION tool and willingness to alter overdose risk factors, in a clinical setting across various EU member states will further confirm the ORION tool's generalisability and effectiveness. © 2016 Elsevier Ireland Ltd. Source

Harmatz P.R.,University of California at San Francisco | Mengel K.E.,University of Mainz | Giugliani R.,Federal University of Rio Grande do Sul | Valayannopoulos V.,Institut Universitaire de France | And 13 more authors.
Molecular Genetics and Metabolism

Objectives: Baseline data from the Morquio A Clinical Assessment Program (MorCAP) revealed that individuals with Morquio A syndrome show substantial impairment in multiple domains including endurance and respiratory function (Harmatz et al., Mol Genet Metab, 2013). Here, 1- and 2-year longitudinal endurance and respiratory function data are presented. Methods: Endurance was assessed using the 6-minute walk test (6MWT) and the 3-minute stair climb test (3MSCT). Respiratory function was evaluated by measuring forced vital capacity (FVC) and maximum voluntary ventilation (MVV). Data were analyzed using repeated measures ANCOVA models. Annualized estimates of change were determined using model estimates and interpolation. Results: 353, 184, and 78 subjects were assessed at Year 0 (baseline), Year 1, and Year 2, respectively. The overall annualized estimate of change (SE) in 6MWT distance was - 4.86 ± 3.25. m; a larger decline of - 6.84 ± 5.38. m was observed in the subset of subjects meeting the inclusion/exclusion criteria of the Phase 3 clinical trial of elosulfase alfa (≥. 5. years of age with baseline 6MWT distance ≥. 30 and ≤. 325. m). In contrast, little change (- 0.14 ± 0.60. stairs/min) was observed in 3MSCT. Annualized changes (SE) in FVC and MVV were 2.44 ± 0.68% and 1.01 ± 2.38%, respectively. FVC and MVV increased in patients aged ≤. 14. years, but decreased in older patients. Conclusions: The natural history of Morquio A syndrome is characterized by progressive impairment of endurance as measured by the 6MWT. Longitudinal trends in FVC and MVV showing increase in younger patients, but decrease in older patients, are likely to be influenced by growth. Changes in 6MWT may represent a sensitive measure of disease progression in ambulatory Morquio A patients. © 2014. Source

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