“Background-Mutations

in the MEF2A gene, coding fo


“Background-Mutations

in the MEF2A gene, coding for a member of the myocyte enhancer factor 2 family of transcription factors, have been reported in patients with coronary artery disease and myocardial infarction (MI). In particular, a 21-bp deletion and 3 missense mutations were demonstrated either to reduce MEF2A transcriptional activity or to impair its nuclear translocation. However, the association of MEF2A with coronary selleck products artery disease/MI was not confirmed in other studies. We analyzed the role of MEF2A in the pathogenesis of MI in 2008 Italian patients with premature MI and in 2008 controls.

Methods and Results-Mutational screening of exon 8 (containing all so-far reported point mutations) disclosed 5 novel and 2 previously described missense mutations. Microsatellite genotyping and sequencing revealed the presence of the 21-bp deletion (located in exon 12) in 5 cases and in none of the controls. Functional studies on mutant proteins showed no alteration, neither in the transactivating properties (all mutants) nor in the nuclear localization (21-bp deletion). Furthermore, an association analysis performed using 3 microsatellites at the MEF2A locus showed no significant association

with MI. These results were confirmed in a replication study performed on an independent Italian population with coronary artery disease.

Conclusions-All selleck kinase inhibitor together, our data do not support MEF2A as a susceptibility gene for coronary artery disease/MI in the Italian population. (Circ Cardiovasc Genet. 2009; 2: 165-172.)”
“Objectives: The injuries of the larynx constitute around find more 1% of all injuries. The great majority of the injuries of the larynx happens during playing. The effects of these injuries may appear insignificant however, not always the direct clinical symptoms correlate with the degree of respiratory tract failure. The symptoms of laryngeal injuries depend on the extension and strength

of the trauma and always relate to impair patency of respiratory tract. The aim of the study is to compare two diagnostic methods: laryngoscopy and ultrasonography in evaluation of laryngeal injuries in children.

Methods: In the Department of Pediatric Otolaryngology, Medical University of Warsaw, in the period between 2004 and 2010 there were hospitalised 15 children with external injury of the larynx.

Results: From among 15 hospitalized children, 7 were qualified as not serious trauma and were treated preservatively and the other 8 as sever trauma. The mechanism of traumas was diverse. Dyspnea was a predominating symptom, the others included hoarsness, change in voice quality, even aphonia, pain while speaking and swallowing, cough and hemoptysis.

Conclusions: Direct laryngoscopy is a standard in diagnostics of the injuries of the larynx.

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