Changes in platelet aggregation during cardiopulmonary bypass: comparison of poly-2-methoxyethylacrylate and heparin as a circuit coating material

At present, there are various biomaterials that have high biocompatibility. In particular, there are many types of coated circuits in cardiopulmonary bypass (CPB) systems. However, only a few clinical studies have investigated platelet aggregation caused by these coated circuits. In this study, a CPB system coated with poly-2-methoxyethylacrylate (X coating) was used to ascertain whether platelet aggregation could be suppressed during CPB, and a comparison was made between X coating and ordinary (covalently bonded) heparin coating. The subjects were 19 adult patients who were scheduled to undergo valve replacement or valvuloplasty. They were divided into two groups: group X (X coating) and group H (heparin coating). The platelet aggregation threshold index (PATI, grading curve) and β-thromboglobulin and plalelet factor IV levels were assessed preoperatively (control), 5 min after heparin administration, 10 and 60 min after the start of CPB, and 0 and 2 h after the end of CPB. The results indicated that platelet aggregation was reduced during CPB and that platelets were activated. The changes in platelet aggregation associated with the X coating were shown to be similar to those associated with heparin coating.     

Deep white matter infarction: correlation of MR imaging and histopathologic findings

Focal and confluent areas of periventricular hyperintensity have been reported on magnetic resonance (MR) images in 30% of patients over 60 years of age. In order to better understand the pathologic basis of these lesions, the authors studied 14 formalin-fixed brains with MR imaging. Multiple focal areas of hyperintensity were identified in the periventricular white matter in three of the 14 brains studied (21%). Subsequent gross and microscopic pathologic examination of both hyperintense and normal-intensity areas was performed on 87 tissue sections. The larger lesions were characterized centrally by necrosis, axonal loss, and demyelination and therefore represent true infarcts. Reactive astrocytes oriented along the degenerated axons were identified at distances of up to several centimeters from the central infarct. This is called isomorphic gliosis and is associated with increased intensity on T2-weighted images that increases the apparent size of the central lesion.     

Exome sequencing: expanding the genetic testing toolbox

Exome sequencing identifies the cause of a Mendelian disorder Ng et al. (2009) Nature Genetics 41(1):30–36     

Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients

Carvalho DR, Navarro MMM, Martins BJAF, Coelho KEFA, Mello WD, Takata RI, Speck‐Martins CE. Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients. Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disorder reported worldwide. A specific heterozygous mutation (c.617G> A; p.R206H) in the activin A type I receptor gene (ACVR1) is regarded as the genetic cause of FOP in all classically affected individuals worldwide. However, a few patients with FOP variants harbor distinct mutations in ACVR1. We screened a group of FOP Brazilian population for mutations in ACVR1. Of 16 patients with a classic FOP phenotype (10 males and 6 females, age range of 3–42 years), all had the classic mutation (p.R206H). One 21‐year‐old woman with a variant FOP phenotype had the previously reported c.983G> A mutation (p.G328E). Our study contributes to the understanding of the predominant FOP phenotype and genotype and suggests that variant FOP phenotypes are associated with specific mutations in ACVR1 gene.     

Biologics for severe asthma—Which,when and why?

Asthma is a common chronic inflammatory condition of the airways that affects about 350 million people globally. In 5%–10% of individuals, it is severe, with considerable morbidity and high health care utilization. The goal of asthma management is disease control by reducing symptoms and exacerbations and reducing corticosteroid-related morbidity. The era of biologics has revolutionized the management of severe asthma. Biologics have changed our expectations for severe asthma, especially in those people with type-2 mediated immunity. We can now explore the potential for changing disease trajectory and inducing remission. However, biologics are not a panacea for all severe asthma sufferers and despite their success there remains substantial unmet clinical need. We review the pathogenesis of asthma, phenotyping the heterogeneity of asthma, currently licensed and future biologic agents, how to choose the initial biologic, assessing the response, remission and switching of biologic therapies.