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Purpose: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical presentation, and overlap with other conditions including Marfan syndrome, the diagnosis is challenging, but important for prognosis and clinical management. CCA is caused by pathogenic variants in FBN2, encoding fibrillin-2, but locus heterogeneity has been suggested. We designed a clinical scoring system and diagnostic criteria to support the diagnostic process and guide molecular genetic testing., Methods: In this retrospective study, we assessed 167 probands referred for FBN2 analysis and classified them into a FBN2-positive (n = 44) and FBN2-negative group (n = 123) following molecular analysis. We developed a 20-point weighted clinical scoring system based on the prevalence of ten main clinical characteristics of CCA in both groups., Results: The total score was significantly different between the groups (P < 0.001) and was indicative for classifying patients into unlikely CCA (total score <7) and likely CCA (total score ≥7) groups., Conclusions: Our clinical score is helpful for clinical guidance for patients suspected to have CCA, and provides a quantitative tool for phenotyping in research settings.

Chanarin-Dorfman syndrome is an autosomal recessive lipid storage disease characterized by non-bullous congenital ichthyosiform erythroderma, and involvement of the liver, muscles and central nervous system due to a multisystemic accumulation of neutral lipids in various types of cells. Less than 100 affected individuals have been reported worldwide, the majority from the Mediterranean and Middle-East countries, especially Turkey. We present clinical and molecular data of four affected relatives with Chanarin-Dorfman syndrome homozygous for a N209X mutation in ABHD5, and provide a short review by comparing patients with N209X homozygous mutations to patients with other ABHD5 mutations. No major clinical differences exist between individuals with an N209X mutation and those with other mutations, which argues against a genotype/phenotype correlation., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Background: We evaluated correlates of prolonged use of evidence-based therapies in patients discharged after non-ST-segment elevation acute coronary syndrome (NSTE ACS)., Methods: 598 cardiologists enrolled 2443 patients at outpatient clinics 2-12 months after discharge for NSTE ACS. The use of cardiac medications for secondary prevention (antiplatelets, beta-blockers, angiotensin-converting enzymes, and statins) was evaluated., Results: A total of 2386 (97.7%) patients were on either antiplatelet monotherapy (n=623, 26.1%) or combination therapy (n=1763, 73.9%) at follow-up. Combination antiplatelet therapy declined by 23 percentage points (82.3% to 59.4%) 9-12 months after discharge, whereas use of other cardiac medications remained constant or increased. After multivariable analysis, the strongest predictors of combination antiplatelet therapy were PCI with a stent (odds ratio [OR] 3.75, 95% confidence interval [CI] 2.12-6.67), drug-eluting stents (OR 3.25, 95% CI 1.73-6.08), late PCI (OR 3.21, 95% CI 2.12-4.87) and statins at discharge (OR 1.98, 95% CI 1.40-2.80). Among the independent predictors of beta-blocker and statin use were extent of coronary artery disease and cardiac medications prescribed at discharge., Conclusions: After NSTE ACS, implementation of recommendations on long-term use of evidence-based therapies depends largely on in-hospital management. A variety of clinical characteristics are also predictive of long-term use.

Background: The interaction between the use of percutaneous coronary intervention (PCI) for non-ST-elevation acute coronary syndromes and the use of secondary prevention medications was analysed in the French S-Témoin Registry., Methods: The population consisted of 2433 patients seen by their cardiologists at an outpatient clinic 2-12 months after non ST-elevation ACS; the survey was carried out from September 2004 to April 2005., Results: Overall, patients undergoing PCI (75% of the population) had higher levels of prescription of recommended secondary prevention medications. Multivariate logistic regression analysis showed that the use and type of coronary intervention (drug eluting versus bare metal stents) was an independent correlate of the use of dual antiplatelet therapy. In addition, time from the acute episode was also a strong correlate of dual antiplatelet therapy. Statins were also more often used in patients with PCI., Conclusion: Patients not treated with PCI are less likely to receive appropriate secondary prevention medications after non ST-elevation acute coronary syndromes. Specific efforts should be directed towards these patients, in particular as regards the prescription of dual antiplatelet therapy.