Endothelial Function in Adolescents with a History of Premature Coronary Artery Disease in One Parent

Background: In young adults, a family history of premature coronary artery disease (CAD), as well as genetic and environmental factors are independent risk factors for coronary artery disease.
 Methods: Endothelial function was studied in 30 children (21 boys and 9 girls with mean age of 14.9 +/- 2.3 years old) of patients with documented CAD (men 45 and women 50 years old). Chidren did not have any history of diabetes mellitus, dyslipidemia, hypertension, and smoking (active/passive). Using vascular ultrasound, we measured resting Basal Brachial artery Diameter (BBD) and Endothelium-Dependent Dilatation (EDD) in response to increased flow and sublingual glyceryltrinitrate (GTN), an Endothelium-Independent Dilation (EID). These parameters were also measured in 30 control subjects with normal parents (18 boys and 12 girls with mean age of 14.2 +/- 2/5years old) and results were compared with each other.
 Results: Adolescents in CAD group had abnormal Endothelial Dependent Dilatation or EDD/BBD (8.5 +/- 3.4% vs 11.8 +/- 4.5% in control subjects; P= 0.003).Endothelial Independent Dilatation (EID/BBD) in the positive fimily history group was significantly more than control subjects (18.5 +/- 6.7% vs 11.9 +/- 5.2%; P <0.001). EDD/EID or the index of endothelial function was significantly lower in the positive family history group (0.92 +/- 0.05 vs 1+/- 0.03; P<0.001). There was no difference in EDD/EID index between those with history of premature CAD in mother (7 cases) and those with history of premature CAD in father (23 cases) (0.92 +/- 0.04 vs 0.91+/- 0.05).
 Conclusion: Normal adolescents without any cardiovascular risk factors but a history of premature coronary artery disease in one parent may have endothelial dysfunction, and there is no difference whether the CAD is in mother or father.
 Keywords: Endothelial dependent dilation, family history, CAD risk factors, premature coronary artery diseas

Endothelial function in male body builders taking anabolic androgenic steroids

Background: Adverse cardiovascular events have been reported in body builders taking anabolic steroids. Adverse effects of AAS on endothelial function can initiate atherosclerosis. This study evaluates endothelial function in body builders using AAS, compared with non-steroids using athletes as controls.
 Methods: We recruited 30 nonsmoking male body builders taking AAS, 14 in build up phase, 8 in work out phase, and 8 in post steroid phase, and 30 nonsmoking male athletes who denied ever using steroids. Serum lipids and fasting plasma glucose were measured to exclude dyslipidemia and diabetes. Brachial artery diameter was measured by ultrasound at rest, after cuff inflation, and after sublingual glyceriltrinitrate (GTN) to determine flow mediated dilation (FMD), nitro mediated dilation (NMD) and ratio of FMD to NMD (index of endothelial function).
 Result: Use of AAS was associated with higher body mass index (BMI) and low density lipoprotein–cholesterol (LDL-C). Mean ratio of flow mediated dilatation after cuff deflation to post GTN dilatation of brachial artery (index of endothelial function) in body builders taking AAS was significantly lower than control group (0.96(0.05) versus 1(0.08); p=0.03). After adjusting BMI, age and weight, no significant difference was seen in index of endothelial function between two groups (p=0 .21).
 Conclusion: Our study indicates that taking AAS in body builders doesn’t have direct effect on endothelial function. Future study with bigger sample size and measurement of AAS metabolites is recommended.
 Key words: endothelium, lipids, anabolic steroids, body builder

Dental Abnormalities in Schimke immuno-osseous dysplasia

Described for the first time in 1971, Schimke immuno-osseous dysplasia (SIOD) is an autosomal-recessive multisystem disorder that is caused by bi-allelic mutations of SMARCAL1, which encodes a DNA annealing helicase. To define better the dental anomalies of SIOD, we reviewed the records from SIOD patients with identified bi-allelic SMARCAL1 mutations, and we found that 66.0% had microdontia, hypodontia, or malformed deciduous and permanent molars. Immunohistochemical analyses showed expression of SMARCAL1 in all developing teeth, raising the possibility that the malformations are cell-autonomous consequences of SMARCAL1 deficiency. We also found that stimulation of cultured skin fibroblasts from SIOD patients with the tooth morphogens WNT3A, BMP4, and TGFβ1 identified altered transcriptional responses, raising the hypothesis that the dental malformations arise in part from altered responses to developmental morphogens. To the best of our knowledge, this is the first systematic study of the dental anomalies associated with SIOD