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Amson M Lamoureux E Hilzenrat N Tischkowitz M 《Journal canadien de gastroenterologie》2012,26(6):330-332
The authors describe two siblings, each with a different, rare genetic condition that affects liver function. The index case, the 18-year-old asymptomatic brother of a young man recently diagnosed with Wilson disease, presented for Wilson disease screening and was also found to have abnormal liver function suggestive of cholestasis. However, ceruloplasmin level, 24 h urine copper concentration and liver synthetic function were normal. Further hepatic investigations and genetic mutation analysis were performed, ultimately leading to a diagnosis of Alagille syndrome. He was treated with ursodiol, which resulted in normalization of his liver function tests. Subsequently, he was found to be a carrier for a mutation in the Wilson disease gene, ATP7B. In the present report, the potential implications of being a heterozygote for Wilson disease in the context of Alagille syndrome are discussed. Also stressed is that care must be exercised by the clinician when diagnosing family members who may present with two different disorders closely mimicking one another. 相似文献
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Brönneke S Brückner B Peters N Bosch TC Stäb F Wenck H Hagemann S Winnefeld M 《Angiogenesis》2012,15(2):317-329
During embryonic development, the lymphatic system emerges by transdifferentiation from the cardinal vein. Although lymphatic
and blood vasculature share a close molecular and developmental relationship, they display distinct features and functions.
However, even after terminal differentiation, transitions between blood endothelial cells (BEC) and lymphatic endothelial
cells (LEC) have been reported. Since phenotypic plasticity and cellular differentiation processes frequently involve epigenetic
mechanisms, we hypothesized that DNA methylation might play a role in regulating cell type-specific expression in endothelial
cells. By analyzing global gene expression and methylation patterns of primary human dermal LEC and BEC, we identified a highly
significant set of genes, which were differentially methylated and expressed. Pathway analyses of the differentially methylated
and upregulated genes in LEC revealed involvement in developmental and transdifferentiation processes. We further identified
a set of novel genes, which might be implicated in regulating BEC-LEC plasticity and could serve as therapeutic targets and/or
biomarkers in vascular diseases associated with alterations in the endothelial phenotype. 相似文献
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In inoperable or high-risk patients with severe aortic stenosis, transcatheter aortic valve implantation (TAVI) provides an efficacious and safe alternative to surgical aortic valve replacement. In this case report, TAVI resulted in aortic valve cusp shearing and migration into the left main coronary artery, resulting in occlusion of coronary blood flow and cardiac arrest. The patient underwent immediate cardiopulmonary support and surgical intervention with a favourable outcome. With this case report, we illustrate the etiology and management of this complication, which can be recognized nonsurgically only if a high index of suspicion exists. 相似文献
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Vora AN Bonaca MP Ruff CT Jarolim P Murphy S Croce K Sabatine MS Simon DI Morrow DA 《Journal of thrombosis and thrombolysis》2012,34(2):229-234
Elevated levels of myeloid-related protein (MRP)-8/14 (S100A8/A9) are associated with first cardiovascular events in healthy individuals and worse prognosis in patients with acute coronary syndrome (ACS). The diagnostic utility of MRP-8/14 in patients presenting to the emergency room with symptoms concerning for ACS is uncertain. MRP-8/14 was measured in serial serum and plasma samples in a single center prospective cohort-study of patients presenting to the emergency room with non-traumatic chest pain concerning for ACS. Final diagnosis was adjudicated by an endpoint committee. Of patients with baseline MRP-8/14 results (n = 411), the median concentration in serum was 1.57 μg/ml (25th, 75th: 0.87, 2.68) and in plasma was 0.41 μg/ml (<0.4, 1.15) with only moderate correlation between serum and plasma (ρ = 0.40). A final diagnosis of MI was made in 106 (26%). Peak serum MRP-8/14 was higher in patients presenting with MI (p < 0.001). However, the overall diagnostic performance of MRP-8/14 was poor: sensitivity 28% (95% CI 20-38), specificity 82% (78-86), positive predictive value 36% (26-47), and negative predictive value 77% (72-81). The area under the ROC curve for diagnosis of MI with MRP-8/14 was 0.55 (95% CI 0.51-0.60) compared with 0.95 for cTnI. The diagnostic performance was not improved in early-presenters, patients with negative initial cTnI, or using later MRP-8/14 samples. Patients presenting with MI had elevated levels of serum MRP-8/14 compared to patients with non-cardiac chest pain. However, overall diagnostic performance of MRP-8/14 was poor and neither plasma nor serum MRP-8/14 offered diagnostic utility comparable to cardiac troponin. 相似文献
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