Using RNA-Seq SNP data to reveal potential causal mutations related to pig production traits and RNA editing.

RNA-Seq technology is widely used in quantitative gene expression studies and identification of non-annotated transcripts. However this technology also can be used for polymorphism detection and RNA editing in transcribed regions in an efficient and cost-effective way. This study used SNP data from an RNA-Seq assay to identify genes and mutations underlying production trait variations in an experimental pig population. The hypothalamic and hepatic transcriptomes of nine extreme animals for growth and fatness from an (Iberian × Landrace) × Landrace backcross were analyzed by RNA-Seq methodology, and SNP calling was conducted. More than 125 000 single nucleotide variants (SNVs) were identified in each tissue, and 78% were considered to be potential SNPs, those SNVs segregating in the context of this study. Potential informative SNPs were detected by considering those showing a homozygous or heterozygous genotype in one extreme group and the alternative genotype in the other group. In this way, 4396 and 1862 informative SNPs were detected in hypothalamus and liver respectively. Out of the 32 SNPs selected for validation, 25 (80%) were confirmed as actual SNPs. Association analyses for growth, fatness and premium cut yields with 19 selected SNPs were carried out, and four potential causal genes (RETSAT, COPA, RNMT and PALMD) were identified. Interestingly, new RNA editing modifications were detected and validated for the NR3C1:g.102797 (ss1985401074) and ACSM2B:g.13374 (ss1985401075) positions and for the COG3:g3.4525 (ss1985401087) modification previously identified across vertebrates, which could lead to phenotypic variation and should be further investigated.

Noninvasive assessment of cardiovascular risk: from Framingham to the future.

Risk assessment and risk factor modification have become essential tools in the management of cardiovascular disease. While the risk assessment defined by the Framingham Study researchers was a great leap forward, the search for additional and more precise markers of cardiovascular risk continues. Markers of thrombosis, abnormal endothelial function, plaque formation, and other events in atherosclerosis development are being evaluated. Some of the most promising for population screening are high-sensitivity C-reactive protein tests, degree of arterial stiffness (measured directly or as pulse pressure), and ankle-brachial index.

Assessment of subclinical atherosclerosis and cardiovascular risk.

Conventional cardiac risk factors do not fully explain the incidence of coronary artery disease and coronary events. Risk stratification and therapy based solely on these conventional risk factors may exclude a population who would otherwise benefit from lifestyle and risk factor modification. Recent efforts to improve our ability to recognize individuals and populations at increased risk of coronary events have focused on the noninvasive imaging of atherosclerosis, both in coronary and extracoronary arterial beds, or the identification of "non-traditional" serum markers. We review the complimentary role of these newer methods of risk stratification in the context of conventional risk factor evaluation.

Acquired coronary artery-pulmonary artery connection.

We report a patient who underwent resection of a mediastinal tumor with postoperative irradiation. Cardiac catheterization fifteen years later demonstrated coronary artery-pulmonary artery fistulas from both the right and left coronary arteries. This case report raises the issue of whether external beam irradiation may have been integral in neovascularization and the development of this acquired abnormality.

Atherosclerosis: an infectious disease?

Traditional risk factors do not fully account for atherogenesis. There is increasing evidence that infectious pathogens, such as Helicobacter pylori, cytomegalovirus, and Chlamydia pneumoniae, may promote the atherosclerotic cascade. Proposed mechanisms include macrophage transformation, endothelial injury, chronic inflammation, and thrombosis. Specific antibiotic therapy may affect outcome.

Immediate and persistent complete heart block following a horse kick.

Nonpenetrating chest trauma has been reported to cause acute and transient disorders of impulse formation and propagation, including intraventricular conduction delay and heart block. We report a case of immediate and sustained complete heart block following blunt chest injury.

Transient sinus node dysfunction in acute myocardial infarction associated with the use of a coronary stent.

We describe a patient with acute inferior wall myocardial infarction who developed sinus node dysfunction following thrombosis of the sinus node artery during percutaneous transluminal coronary angioplasty and intracoronary stent implantation. Sinus node function normalized spontaneously over the next week, allowing beta blockers to be initiated. Our experience suggests that sinus node dysfunction in this setting may be transient and should be managed conservatively.

Dobutamine stress echocardiography for preoperative cardiac risk stratification in patients undergoing orthotopic liver transplantation.

This study attempts to evaluate the efficacy of dobutamine stress echocardiography for preoperative cardiac risk stratification in patients undergoing orthotopic liver transplantation. Two hundred twenty consecutively submitted patients were evaluated in preparation for orthotopic liver transplantation. Dobutamine stress echocardiography was performed in 80 patients with known or suspected coronary artery disease. Follow-up information was available in 40 patients in the form of cardiac catheterization and/or outcome from liver transplantation to validate the dobutamine stress echo findings. The prevalence of coronary artery disease in this cohort was 5% and was closely associated with the presence of diabetes mellitus. Dobutamine stress echocardiography, when interpreted as abnormal in the presence of wall motion abnormalities only, is associated with a sensitivity, specificity, and positive and negative predictive value of 100%. Dobutamine stress echocardiography is highly efficacious and should be the screening study of choice to detect coronary artery disease in patients undergoing orthotopic liver transplantation.

[Acute fulminating hepatitis non-A non-B in pregnancy: a clinical case of probable sporadic hepatitis caused by E virus]. / Hepatitis aguda fulminante no A no B en el embarazo: un caso clínico de probable hepatitis esporádica producida por virus E.

The extreme severity of hepatitis E in the pregnant patient results a high maternal and fetal mortality in fulminating acute hepatitis. We present a clinical case of a 19 years old primigesta, 29 weeks pregnant, diagnosted as suffering from Acute Fulminating Hepatitis non A non B, probably E. The fetus died and liver transplant was contemplated for the patient due to the severity of disease. Liver transplant could not be carried out for lack of a suitable donor. The patient died 16 days after admission. The pathology report showed massive hepatic necrosis and terminal shock.