RESUMO
Paired box gene 6 (PAX6) is the causative gene of aniridia. It is a dominantly inherited eye abnormality characterized by partial or complete absence of the iris. The PAX6 gene is located on chromosome 11p13 and contains 14 exons. It is expressed mainly in the developing eye and central nervous system. Submicroscopic copy number variations are common in the human genome. Submicroscopic deletions may cause several human diseases, either by disrupting coding sequences or by eliminating regulatory elements essential for expression of the gene in question. Over the past several years, array-based comparative genomic hybridization has become an increasingly useful tool for both identifying normal cytogenetic variations and characterizing chromosomal abnormalities associated with developmental delays and cancer. Our results support the notion that assessing copy number variation of the PAX6 gene itself and also of flanking regions, may contribute to the molecular diagnosis of aniridia.
Assuntos
Regiões 3' não Traduzidas/genética , Aniridia/genética , Proteínas do Olho/genética , Saúde da Família , Predisposição Genética para Doença , Proteínas de Homeodomínio/genética , Fatores de Transcrição Box Pareados/genética , Proteínas Repressoras/genética , Deleção de Sequência/genética , Aniridia/patologia , Aberrações Cromossômicas , Cromossomos Humanos Par 11 , Citogenética/métodos , Feminino , Perfilação da Expressão Gênica/métodos , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Fator de Transcrição PAX6 , Turquia/epidemiologiaRESUMO
BACKGROUND: Increased cardiovascular disease risk is very well known in nephrotic syndrome. Coronary flow reserve measurement by trans-thoracic echocardiography reflects coronary microvascular and endothelial function. However, diastolic filling abnormalities by echocardiography may indicate diastolic dysfunction. Our aim was to evaluate endothelial and diastolic functions by trans-thoracic echocardiography in nephrotic syndrome. METHODS: Eighteen patients with nephrotic syndrome (five females, 34 +/- 17 years) and 30 controls (10 females, 35 +/- 10 years) were evaluated in this cross-sectional observational study. Age, weight, lipid profile, glucose, blood urea nitrogen, creatinine, serum albumin, total protein, C-reactive protein, erythrocyte sedimentation rate, blood pressures, 24-hour urine volume, and protein were recorded. Glomerular filtration rate was estimated by Cockcroft-Gault Formula. Doppler flow and other echocardiographic parameters were measured by Vivid 7 echocardiography. RESULTS: Coronary flow reserve was significantly lower in patients than controls (p < 0.001) and was negatively correlated with proteinuria (p < 0. 001), creatinine levels (p = 0.03), total cholesterol (p = 0.02), C-reactive protein (p = 0.02), and erythrocyte sedimentation rate (p = 0.005). E/A ratio was significantly lower in patients than in controls (p = 0.005). DT was significantly higher in patients than in controls (p = 0.01) and isovolumic relaxation time was similar in both groups. CONCLUSION: Coronary flow reserve and left ventricular diastolic filling are significantly impaired in nephrotic syndrome. Proteinuria, serum creatinine, total cholesterol and inflammation may have all contributory effects on endothelial dysfunction. Early evaluation of patients with nephrotic syndrome should include coronary flow and diastolic function by echocardiography.
