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Diseases, Volume 3, Issue 1 (March 2015) – 4 articles , Pages 1-33

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Article
Kid-Short Marfan Score (Kid-SMS) Is a Useful Diagnostic Tool for Stratifying the Pre-Test Probability of Marfan Syndrome in Childhood
Diseases 2015, 3(1), 24-33; https://doi.org/10.3390/diseases3010024 - 12 Mar 2015
Cited by 2 | Viewed by 5549
Abstract
Due to age dependent organ manifestation, diagnosis of Marfan syndrome (MFS) is a challenge, especially in childhood. It is important to identify children at risk of MFS as soon as possible to direct those to appropriate treatment but also to avoid stigmatization due [...] Read more.
Due to age dependent organ manifestation, diagnosis of Marfan syndrome (MFS) is a challenge, especially in childhood. It is important to identify children at risk of MFS as soon as possible to direct those to appropriate treatment but also to avoid stigmatization due to false diagnosis. We published the Kid-Short Marfan Score (Kid-SMS) in 2012 to stratify the pre-test probability of MFS in childhood. Hence we now evaluate the predictive performance of Kid-SMS in a new cohort of children. We prospectively investigated 106 patients who were suspected of having MFS. At baseline, children were examined according to Kid-SMS. At baseline and follow-up visit, diagnosis of MFS was established or rejected using standard current diagnostic criteria according to the revised Ghent Criteria (Ghent-2). At baseline 43 patients were identified with a risk of MFS according to Kid-SMS whereas 21 patients had Ghent-2 diagnosis of MFS. Sensitivity was 100%, specificity 77%, negative predictive value 100% and Likelihood ratio of Kid-SMS 4.3. During follow-up period, three other patients with a stratified risk for MFS were diagnosed according to Ghent-2. We confirm very good predictive performance of Kid-SMS with excellent sensitivity and negative predictive value but restricted specificity. Kid-SMS avoids stigmatization due to diagnosis of MFS and thus restriction to quality of life. Especially outpatient pediatricians and pediatric cardiologists can use it for primary assessment. Full article
(This article belongs to the Special Issue Marfan Syndrome: Recognition, Diagnosis and Managements)
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Article
Prognostication in Pulmonary Arterial Hypertension with Submaximal Exercise Testing
Diseases 2015, 3(1), 15-23; https://doi.org/10.3390/diseases3010015 - 06 Feb 2015
Cited by 3 | Viewed by 5052
Abstract
Introduction: The submaximal exercise test (SET), which gives both a measure of exercise tolerance, as well as disease severity, should be a more robust functional and prognostic marker than the six-minute walk test (6MWT). This study aimed to determine the prognostic value of [...] Read more.
Introduction: The submaximal exercise test (SET), which gives both a measure of exercise tolerance, as well as disease severity, should be a more robust functional and prognostic marker than the six-minute walk test (6MWT). This study aimed to determine the prognostic value of SET as predicted by the validated REVEAL (Registry to Evaluate Early and Long-Term Pulmonary Artery Hypertension Disease Management) registry risk score (RRRS). Methods: Sixty-five consecutive patients with idiopathic and associated pulmonary arterial hypertension (PAH) underwent right-heart catheterization, echocardiogram, 6MWT and a three-minute SET (Shape-HF™). Analyses explored the association between SET variables and prognosis predicted by the RRRS. Results: Although multiple SET variables correlated with the RRRS on univariate analyses, only VE/VCO2 (r = 0.57, p < 0.0001) remained an independent predictor in multivariate analysis (β = 0.05, p = 0.0371). Additionally, the VE/VCO2 was the most discriminatory (area under receiver operating characteristic curve, 0.84) in identifying the highest-risk category (RRRS ≥ 10), with an optimal cut-off of 40.6, resulting in a high sensitivity (92%) and negative-predictive value (97%), but a lower specificity (67%). Conclusion: SETs, particularly the VE/VCO2, appear to have prognostic value when compared to the RRRS. If validated in prospective trials, SET should prove superior to the 6MWT or the RRRS, with significant implications for both future clinical trials and clinical practice. Full article
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Article
Personalised External Aortic Root Support (PEARS) Compared with Alternatives for People with Life-Threatening Genetically Determined Aneurysms of the Aortic Root
Diseases 2015, 3(1), 2-14; https://doi.org/10.3390/diseases3010002 - 15 Jan 2015
Cited by 8 | Viewed by 5919
Abstract
Personalised external aortic support was first proposed in 2000 by Tal Golesworthy, an engineer with familial Marfan syndrome and an aortic root aneurysm. After putting together a research and development team, and finding a surgeon to take on the challenge to join him [...] Read more.
Personalised external aortic support was first proposed in 2000 by Tal Golesworthy, an engineer with familial Marfan syndrome and an aortic root aneurysm. After putting together a research and development team, and finding a surgeon to take on the challenge to join him in this innovative approach, he was central to the manufacture of the device, custom made for his own aorta. He was the patient for the ‘first in man’ operation in 2004. Ten years later he is well and 45 other people have had their own personalised device implanted. In this account, the stepwise record of proof of principle, comparative quantification of the surgical and perioperative requirements, 10 years of results, and development and research plans for the future are presented. Full article
(This article belongs to the Special Issue Marfan Syndrome: Recognition, Diagnosis and Managements)
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Editorial
Acknowledgement to Reviewers of Dieseases in 2014
Diseases 2015, 3(1), 1; https://doi.org/10.3390/diseases3010001 - 09 Jan 2015
Viewed by 3105
Abstract
The editors of Diseases would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2014:[...] Full article
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