Right ventricular free wall perforation during pericardiocentesis,and an inappropriate device selection for percutaneous treatment

Right ventricular (RV) perforation is a rare but life‐threatening complication of pericardiocentesis and is usually treated surgically. We presented a case of RV free wall perforation, which occurred during pericardiocentesis and tried to be closed percutaneously with the Amplatzer vascular plug‐III (AVP‐III) device. The occluder device sealed the perforation, but it was in an insecure position; therefore, the patient underwent surgical repair. As an AVP‐III device, with a middle disk thicker than the RV myocardium, it may cause the RV myocardium to stretch outwards, so it should not be used for the treatment of RV perforation by the transcatheter way.     

Novel oncogene and tumor suppressor mutations in KIT and PDGFRA wild type gastrointestinal stromal tumors revealed by next generation sequencing

Among gastrointestinal stromal tumors (GISTs) of 10–15% are negative for KIT and PDGFRA, and most of these cases are SDH deficient. Recent studies have provided data on additional molecular alterations such as KRAS in KIT mutant GISTs. We aimed to assess the frequency and spectrum of somatic mutations in common oncogenes as well as copy number variations in GISTs negative for KIT and PDGFRA mutations. GISTs with wild type KIT/PDGFRA were tested via next generation sequencing for somatic mutations in 341 genes. SDHB immunohistochemistry to evaluate for SDH deficiency was also performed. Of 267 GISTs tested for KIT and PDGFRA mutations, 15 were wild type, of which eight cases had material available for further testing. All eight cases had loss of SDHB expression and had various molecular alterations involving ARID1A, TP53, and other genes. One case had a KRAS G12V (c.35G>T) mutation in both the primary gastric tumor and a post‐imatinib recurrence. This tumor had anaplastic features and was resistant to multiple tyrosine kinase inhibitors, ultimately resulting in cancer‐related mortality within 2 years of diagnosis. In conclusion, KRAS mutations occur in rare GISTs with wild type KIT and PDGFRA. These tumors may display immunohistochemical positivity for KIT and primary resistance to tyrosine kinase inhibitors. © 2014 Wiley Periodicals, Inc.     

Consistent copy number changes and recurrent PRKAR1A mutations distinguish Melanotic Schwannomas from Melanomas: SNP‐array and next generation sequencing analysis

Melanotic Schwannomas (MS) are rare tumors that share histological features with melanocytic tumors and schwannomas. However, their genetics are poorly understood. To elucidate the genetic characteristics of MS, we performed genome‐wide studies in a series of cases. Twelve MS cases were available for the study. Genomic DNAs extracted from formalin‐fixed paraffin embedded tumor tissues were subjected to copy number (CN) and allelic imbalance (AI) analysis by Single Nucleotide Polymorphism (SNP)‐array and screened for mutations in coding exons of 341 key cancer‐associated genes using a hybrid capture‐based next‐generation sequencing (NGS) assay. Sanger sequencing was used to further verify recurrent mutations detected by NGS study. SNP‐array analysis revealed remarkably stereotypic chromosomal abnormalities in MS. Hypodiploidy was common, typically involving monosomies of chromosomes 1, 2, and 17. All 12 samples showed mutations in PRKAR1A gene, including 2 cases with 2 mutations each. The 14 mutations were scattered across PRKAR1A, and most were inactivating mutations. AI on 17q, presenting as loss of heterozygosity with or without CN losses, combined with a PRKAR1A mutation was observed in 9/12 MS cases. The remaining 3 cases included the two samples harboring two mutations in PRKAR1A. MS exhibits a stereotypic pattern of chromosomal losses. In contrast, melanomas are typically characterized by the presence of multiple CN aberrations, without demonstrable differences in the frequency of losses and gains. Inactivation of both alleles of PRKAR1A by “two hits” observed in almost all cases underscores the central role of PRKAR1A in the pathogenesis of this neoplasm. © 2015 Wiley Periodicals, Inc.     

Left Atrial Deformation Parameters Predict Left Atrial Appendage Function and Thrombus in Patients in Sinus Rhythm with Suspected Cardioembolic Stroke: A Speckle Tracking and Transesophageal Echocardiography Study

The aim of this study was to evaluate left atrial deformations using speckle tracking echocardiography for predicting left atrial appendage (LAA) thrombus in patients with suspected cardioembolic stroke who were in normal sinus rhythm. A total of 153 ischemic stroke patients (89 males, 64 females) in sinus rhythm who were suspected of having cardioembolism were included in the study. The patients underwent conventional two‐dimensional (2D) echocardiogram and 2D speckle tracking echocardiogram of the left atrium. Left atrial peak strain (LA‐4C‐RES) and left atrial precontraction strain (LA‐4C‐PUMP) were measured. Patients were divided into 2 groups according to the presence of thrombus in the LAA in transesophageal echocardiography. Both LA‐4C‐RES and LA‐4C‐PUMP values were found to be significantly lower in patients with LAA thrombus (11.8 ± 1.4% vs. 33 ± 12%, P < 0.001 and 5.8 ± 1.3% vs. 14.2 ± 5.3%, P < 0.001, respectively). A good inverse correlation was present between LA‐4C‐RES values and LAA morphologic parameters (with LAA area: r = ?0.70, P < 0.001, with LAA length: r = ?0.60, P < 0.001), and a good positive correlation was present with LAA emptying velocity with pulse Doppler (r = 0.74, P < 0.001). The area under the receiver‐operating characteristic curve of the LA‐4C‐RES was 0.94 (0.90–0.98, P < 0.001), for the LA‐4C‐PUMP, the area was 0.92 (0.87–0.96, P < 0.001) to predict LAA thrombus. Left atrial deformation parameters measured by 2D speckle tracking method was found to predict impaired LAA functions and the presence of LAA thrombus in ischemic stroke patients with suspected cardioembolism, but who are in sinus rhythm.     

The penetration of detergents into adult and infant eyes: possible hazards of additives to ophthalmic preparations

In studies of surfactant penetration into the eye, radiolabelled detergent was found to penetrate the rabbit cornea, to accumulate readily in ocular tissues and to be released slowly. Repeated applications led to increasing binding of the detergent. Permeability, ocular and systemic uptake and retention were all greater in juvenile than in adult rabbits. Preliminary tests of the effects of surfactants on ocular cells in vitro using concentrations found in vivo, suggest that some low-level effects might occur, particularly in juveniles.     

Cardiogenic shock in an elderly man caused by left main coronary artery occlusion with spontaneous dissection of right coronary artery

We present a case of an 85-year-old man with acute myocardial infarction and cardiogenic shock due to left main coronary artery occlusion, with spontaneous dissection of the right coronary artery.