Early onset marfan syndrome: Atypical clinical presentation of two cases.

Early onset Marfan Syndrome (eoMFS) is a rare, severe form of Marfan Syndrome (MFS). The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

Cardiovascular changes in children with coarctation of the aorta treated by endovascular stenting.

The aim of this study was to investigate the echocardiographic, biochemical short- and mid-term effects of the stenting procedure on left ventricular function, aortic stiffness, elasticity and systemic hypertension in children with coarctation of the aorta (CoA). Fifteen patients with native or recurrent CoA and 30 healthy controls who were sex and age matched were included in the study. The blood pressure values, echocardiographic measurements, elastic functions of ascending aorta and serum N-Terminal ProBNP (NT-ProBNP) levels were recorded prospectively before and at the first and sixth month after stenting. The mean arterial pressure recorded before stenting was 134.4±16.3 mm Hg; at the sixth month it was 115.5±9.5 mm Hg and in the control group it was 107.3±9.4 mm Hg. Although blood pressure levels were lower compared with the pre-stenting measurements (P<0.05), they were still significantly higher compared with the control group (P<0.05). Although a significant reduction was detected in the LVMIz at the end of the sixth month (50.4±14.3 g m(-2.7)) compared with the baseline (66.6±17.9 g m(-2.7); P<0.05), it was still higher compared with the control group (35.7±6.2 g m(-2.7); P<0.05). The baseline aortic elasticity (6.4±3.4 cm(2) dyn(-1) 10(-6)) was lower compared with the control group (10.0±1.7 cm(2) dyn(-1) 10(-6); P<0.05), and prestenting aortic stiffness was higher than that of the control group (5.6±1.6 dyn(-1) 10(-6); 2.5±0.45 dyn(-1) 10(-6); P<0.05). A statistically significant negative correlation was detected between the pressure gradient at the lesion site and aortic elasticity (r: -0.53, P: 0.04). Although resolution of the coarctation by endovascular stenting led to a reduction in the arteriopathy that had already begun before treatment, it was demonstrated that these children did not completely return to normal.

Computational active site analysis of molecular pathways to improve functional classification of enzymes.

This study describes a method to computationally assess the function of homologous enzymes through small molecule binding interaction energy. Three experimentally determined X-ray structures and four enzyme models from ornithine cyclo-deaminase, alanine dehydrogenase, and mu-crystallin were used in combination with nine small molecules to derive a function score (FS) for each enzyme-model combination. While energy values varied for a single molecule-enzyme combination due to differences in the active sites, we observe that the binding energies for the entire pathway were proportional for each set of small molecules investigated. This proportionality of energies for a reaction pathway appears to be dependent on the amino acids in the active site and their direct interactions with the small molecules, which allows a function score (FS) to be calculated to assess the specificity of each enzyme. Potential of mean force (PMF) calculations were used to obtain the energies, and the resulting FS values demonstrate that a measurement of function may be obtained using differences between these PMF values. Additionally, limitations of this method are discussed based on: (a) larger substrates with significant conformational flexibility; (b) low homology enzymes; and (c) open active sites. This method should be useful in accurately predicting specificity for single enzymes that have multiple steps in their reactions and in high throughput computational methods to accurately annotate uncharacterized proteins based on active site interaction analysis.

Predictors of burnout and job satisfaction among Turkish physicians.

BACKGROUND: Burnout is associated with decreased job performance and low career satisfaction. It has a special significance in health care, where staff experience both psychological-emotional and physical stress. AIM: To investigate levels of job satisfaction and burnout among Istanbul physicians, and the relationships between demographic characteristics, job characteristics, job satisfaction and burnout. DESIGN: Questionnaire-based survey. METHODS: We collected data from a randomly selected sample group of 598 physicians from different health-care institutions in Istanbul. A questionnaire regarding sociodemographic characteristics of the physicians, the Maslach Burnout Inventory (MBI) and the Minnesota Job Satisfaction Questionnaire (MSQ) were all administered during face-to-face interviews. RESULTS: Job satisfaction was inversely correlated with emotional exhaustion and depersonalization, and positively correlated with personal accomplishment. Under multilevel regression, the most significant and common predictors of all burnout dimensions and job satisfaction were the number of vacations at individual level, and public ownership of healthcare facilities at group level. Number of shifts per month was also a significant predictor of all burnout dimensions. DISCUSSION: Organizational efforts aimed at increasing the level of job satisfaction among physicians could help to prevent burnout.