Novel non-synonymous polymorphisms in the COX-1 gene in Turkish pediatric patients with cardiovascular anomalies.

Variation in the gene encoding cyclooxygenase-1 (COX-1) is involved in the process of aspirin resistance. This study investigated the genetic variations in the COX-1 gene. The 4 coding regions of the human COX-1 gene in 90 pediatric patients (median age of 6.5 months, 55% males) with cardiovascular anomalies were screened using DNA sequencing. Twenty coding-region variants causing amino acid substitutions as well as 2 new non-synonymous polymorphisms were identified. All variants were compared with an independent Caucasian population (N = 24 unrelated individuals). Most of the discovered polymorphisms were rare, although some variants resulted in amino acid changes occurring at a frequency >5% (W8R, P17L, Q41Q, Q240Q, D189E, and P188P). In addition, 2 new non-synonymous polymorphisms (F200L and D189E) were identified. These findings demonstrated novel genetic variants of the human COX- 1 gene. Future studies characterizing the functional impact of these variants are warranted.

Left ventricular function in patients with polycystic ovary syndrome: a Doppler echocardiographic study.

PURPOSE: Polycystic ovary syndrome (PCOS) is frequently accompanied by the presence of cardiovascular risk factors. The aim of this study was to determine and compare the echocardiographic profiles of patients with PCOS with those of healthy subjects by using conventional echocardiographic methods and tissue Doppler imaging. METHODS: The study population consisted of 26 untreated patients with PCOS and 24 healthy controls who were mathced with respect to age and body mass index. In addition to standard two dimensional and M-mode measurements, color Doppler M-mode of left ventricular inflow propagation velocities (Vp), pulmonary venous flow measurements, transmitral valve flows and tissue Doppler imaging of the mitral annulus and basal wall were recorded. RESULTS: There were no significant differences between patients with PCOS and control subjects with respect to ejection fraction, mitral E/A ratio, deceleration time, isovolumic relaxation time, Vp and pulmonary venous velocities. The tissue Doppler profiles of patients with PCOS were also found to be similar to those of controls. CONCLUSION: This study suggests that there are no significant differences in certain conventional and tissue Doppler echocardiographic measures of cardiac function between patients with PCOS and healthy control subjects.