Synovial sarcoma in the right atrium and right ventricle

A metastatic synovial sarcoma in the right atrium and ventricle is described. A 36-year-old man was admitted to our hospital with generalized fatigue, dyspnoea, and precordial pain. Transthoracic echocardiography demonstrated a metastatic tumour in both the right atrium and right ventricle and revealed obstruction of the inflow tract of the right ventricle caused by a metastatic right atrial tumour. Thoracic computed tomography revealed a pleural-based paravertebral mass in the left intrathoracic cavity and multiple pulmonary nodules in both lungs. Cardiac surgery was performed for palliative treatment due to right cardiac failure and a risk of fatal embolization. The patient died 12 months after the cardiac surgery.     

Decompression, enucleation, and implant placement in the management of a large dentigerous cyst

The dentigerous cyst is a developmental odontogenic cyst, accounting for 10% of all cysts of the jaws. The treatment options are decompression, marsupialization, or enucleation regarding the features of the lesions. In this article, a case of a 17-year-old adolescent girl having a large mandibular dentigerous cyst associated with an unerupted third molar is presented. The treatment is composed of decompression for 6 months and enucleation. Decompression and enucleation are a predictable choice in the treatment of large cysts. Radiologic evaluation is mandatory to decide for the appropriate time for the removal of the decompression stents, the enucleation time, and also for the evaluation of the adequate new bone formation for implant placement. The present case emphasizes the success of a conservative approach in the management of a large dentigerous cyst in a young patient and also the maintenance of the new bone formation without using any graft materials for the placement of dental implants.     

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy

The familial form of dilated cardiomyopathy (DCM) occurs in about 20%–50% of DCM cases. It is a heterogenous genetic disease: mutations in more than 20 different genes have been shown to cause familial DCM. LMNA, encoding the nuclear membrane protein lamin A/C, is one of the most inportant disease gene for that disease. Therefore, we analyzed the LMNA gene in a large cohort of 73 patients with familial DCM. Clinical examination (ECG, echocardiography, and catheterization) was followed by genetic characterization of LMNA by direct sequencing. We detected five heterozygous missense mutations (prevalence 7%) in five different families characterized by severe DCM and heart failure with conduction system disease necessitating pacemaker implantation and heart transplantation. Four of these variants clustered in the protein domain coil 1B, which is important for lamin B interaction and lamin A/C dimerization. Although we identified two novel mutations (E203V, K219T) besides three known ones (E161K, R190Q, R644C), it was remarkable that four mutations represent LMNA hot spots. DCM patients with LMNA mutations show a notable homogenous severe phenotype as we could confirm in our study. Testing LMNA in such families seems to be recommended because genotype information in an individual could definitely be useful for the clinician. Returned for 1. Revision: 18 February 2008 1. Revision received: 12 August 2008 Returned for 2. Revision: 20 August 2008 2. Revision received: 21 August 2008     

A giant inferoposterior true aneurysm of the left ventricle mimicking a pseudoaneurysm

A left ventricular aneurysm (LVA) is most commonly the result of myocardial infarction, usually involving the anterior wall. A left ventricular pseudoaneurysm (LVPSA) or false aneurysm forms when cardiac rupture is contained by adherent pericardium or scar tissue. The accurate diagnosis, although difficult to establish, is an important one to make because these aneurysms are prone to rupture. In this article, we report a challenging case of a cardiac aneurysm a year after a coronary bypass operation which could not be definitively diagnosed despite of imaging with different techniques including echocardiography, coronary angiography, left ventriculography and magnetic resonance imaging (MRI). The patient underwent a second cardiac surgery, the aneurysm was resected, the mitral valve was replaced and the defect in the ventricular wall was repaired. Because of the combined diagnostic capabilities like detailed and functional pathoanatomy and aneurysmal wall characterization, MRI seems to have multiple advantages in differential diagnosis.     

Safety awareness among laboratory workers

The purpose of this study was to assess safety awareness among laboratory personnel. The research group, which consisted of 84 subjects (88.4% of 95 persons contacted), completed a questionnaire. Of the study population, 55.9% were male and 44.1 % were female. On the subject of how to receive samples, 70.2% of the study group knew the correct answer. In all, 90.5% and 79.8%, respectively, knew what procedures should be followed after injuries or accidents occurred in the laboratory. The lowest number of correct responses on the questionnaire was associated with the topic of waste disposal. Results of this study show that laboratory personnel would benefit greatly from educational initiatives designed to promote laboratory safety.     

Childhood asthma and its relationship with tonsillar tissue

The aim of this study was to evaluate the prevalence of asthma among 4-17 years old school children and to determine the relationship between frequent tonsillitis, tonsillar hypertrophy and asthma-related symptoms. A total of 2,000 school children, aged 4-17 years, in Denizli were surveyed using the ISAAC questionnaire; the size of the tonsils was evaluated by physical examination. A total of 1,784 questionnaires were completed giving an overall response rate of 89.2%. The prevalence of lifetime wheezing, 12-month wheezing and lifetime doctor-diagnosed asthma were 16.4%, 6.2% and 1.7%, respectively. The prevalence of frequent tonsillitis and tonsillar hypertrophy were 19.9% and 3.4%, respectively. Tonsillar hypertrophy was positively correlated with a history of frequent tonsillitis. Frequent tonsillitis and tonsillar hypertrophy could be evaluated as risk factors for asthma due to their significant association with asthma-related symptoms.     

Variations in the human soluble epoxide hydrolase gene and recurrence of atrial fibrillation after catheter ablation

Background

Single nucleotide polymorphisms (SNPs) of EPHX2 alter sEH activity and are associated with increased [rs41507953 (K55R)] or reduced [rs751141 (R287Q)] cardiovascular risk via modulation of fibrosis, inflammation or cardiac ion channels. This indicates an effect on development and therapy response of AF. This study tested the hypothesis that variations in the EPHX2 gene encoding human soluble epoxide hydrolase (sEH) are associated with atrial fibrillation (AF) and recurrence of atrial fibrillation after catheter ablation.

Methods and results

A total of 218 consecutive patients who underwent catheter ablation for drug refractory AF and 268 controls were included. Two SNPs, rs41507953 and rs751141, were genotyped by direct sequencing. In the ablation group, holter recordings 3, 12 and 24 months after ablation were used to detect AF recurrence. No significant association of the SNPs and AF at baseline was detected. In the ablation group, recurrence of AF occurred in 20% of the patients 12 months after ablation and in 35% 24 months after ablation. The presence of the rs751141 polymorphism significantly increased the risk of AF recurrence 12 months (odds ratio [OR]: 3.2, 95% confidence interval [CI]: 1.237 to 8.276, p = 0.016) and 24 months (OR: 6.076, 95% CI: 2.244 to 16.451, p < 0.0001) after catheter ablation.

Conclusions

The presence of rs751141 polymorphism is associated with a significantly increased risk of AF recurrence after catheter ablation. These results point to stratification of catheter ablation by genotype and differential use of sEH-inhibitory drugs in the future.