Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and deafness. Poorly controlled type 1 DM increases the risk for thrombosis. However, coexistence of DM and hereditary thrombosis factors is rarely observed. Here we present the case of a 13.5-year-old, nonfollowed girl newly diagnosed with poorly controlled Wolfram syndrome on the basis of the results of clinical and laboratory examinations. On the eighth day after diabetic ketoacidosis treatment, pulmonary embolism developed in the subject. Thrombus identified in the right atrium using echocardiography was treated by emergency thrombectomy. Homozygous mutation in the methylenetetrahydrofolate reductase gene C677T, heterozygous factor-V Leiden mutation, and active protein C resistance were identified in the patient. The patient was lost because of a recurring episode of pulmonary embolism on the 86th day of hospitalization. We present this case to highlight the need for investigating hereditary thrombosis risk factors in diabetic patients in whom thromboembolism develops.

Background: Atrial electromechanical delay (EMD) parameters predict the development of atrial fibrillation. We investigated the effect of telmisartan treatment on atrial EMD parameters in patients with newly diagnosed essential hypertension.Methods: Thirty-six patients with essential hypertension were treated with telmisartan (80 mg/day) for 6 months. Baseline electrocardiographic P-wave measurements and echocardiographic atrial EMD parameters were compared with the 6-month follow-up.Results: Pmax and Pd were significantly decreased (108.4 +/- 6.1 vs 93.9 +/- 6.2 milliseconds, 33.4 +/- 8.6 vs 19.5 +/- 7.0 milliseconds, respectively, P = .0001 for each) after 6-month telmisartan therapy. The atrial EMD parameters were decreased from baseline (mitral EMD, 68.9 +/- 4.9 vs 53.8 +/- 4.9 milliseconds; septum EMD, 51.6 +/- 7.1 vs 42.6 +/- 7. milliseconds1; tricuspid EMD, 48 +/- 6.9 vs 39 +/- 6.9 milliseconds; interatrial EMD, 20.9 +/- 5.5 vs 14.8 +/- 5.7 milliseconds; P = .0001 for each parameter). The reduction of interatrial EMD was correlated with the reduction in systolic BP nighttime and the increase in mitral E wave velocity/mitral A wave velocity ratio.Conclusion: Telmisartan decreased the atrial EMD parameters in patients with newly diagnosed essential hypertension. (C) 2012 Elsevier Inc. All rights reserved.

A 71-year-old woman with chest pain occurring on physicalexercise was admitted to cardiology department.Myocardial perfusion scintigraphy revealed inferior andanteroapical segment hypoperfusion. Selective coronaryangiography revealed multiple coronary-cameral fistulasoriginating from the left anterior descending artery andthe right coronary artery and emptying into the left ventriclewithout any significant coronary artery stenosis. Coronaryartery fistulas are defined as abnormal communicationsbetween a coronary artery and a cardiac chamber ormajor vessel. Coronary-cameral fistulas terminating in theleft ventricle are uncommon. Small fistulas usually do notcause any hemodynamic compromise. However, the largerand multiple fistulas may cause myocardial ischemiaascribed to a coronary steal phenomenon. The best wayto manage cameral fistulae is uncertain largely due to therarity of the condition. In the present case, anti-ischemicmedications with metoprolol 50 mg/day provided an uneventfulfollow-up of six months without any intervention.

A 71-year-old woman with chest pain occurring on physical exercise was admitted to cardiology department. Myocardial perfusion scintigraphy revealed inferior and anteroapical segment hypoperfusion. Selective coronary angiography revealed multiple coronary-cameral fistulas originating from the left anterior descending artery and the right coronary artery and emptying into the left ventricle without any significant coronary artery stenosis. Coro nary artery fistulas are defined as abnormal communica tions between a coronary artery and a cardiac chamber or major vessel. Coronary-cameral fistulas terminating in the left ventricle are uncommon. Small fistulas usually do not cause any hemodynamic compromise. However, the larger and multiple fistulas may cause myocardial ischemia ascribed to a coronary steal phenomenon. The best way to manage cameral fistulae is uncertain largely due to the rarity of the condition. In the present case, anti-ischemic medications with metoprolol 50 mg/day provided an uneventful follow-up of six months without any intervention.

Introduction: The percutaneous catheterization of various arteries is used in visualization of coronary arteries.Aim: We aimed to determine whether arterial blood samples withdrawn from femoral arteries during standard ludkin's technique in patients evaluated with coronary angiography can also be used to determine some biochemical parameters.Material and methods: In 50 controls (25 males and 25 females) and 73 coronary artery disease (CAD) patients (10 females and 63 males) paraoxonase-1 (PON1) activity, total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), very low-density lipoprotein cholesterol (VLDL-C), high-density lipoprotein cholesterol (HDL-C) and triglyceride (TG) levels were measured using colorimetric methods. lipid peroxidation marker levels (conjugated dienes (CD) and thiobarbituric acid-reactive substances (TBARS)) were measured manually.Results: There was no difference in lipid and lipid peroxidation marker levels, PON1 activity and TC/HDL-C, LDL-C/HDL-C and PON1/HDL-C ratios between arterial and venous blood samples. LDL-C, CD and TBARS levels and TC/HDL-C and LDL-C/HDL-C ratios were significantly lower in both arterial and venous blood samples of controls compared with CAD patients. Paraoxonase-1 activity, HDL-C level and PON1/HDL-C ratio were higher in controls than CAD patients. On multiple logistic regression analysis, risk factors associated with CAD were found to be the levels of arterial CD, venous CD, arterial TBARS and arterial LDL-C/HDL-C ratios in CAD patients.Conclusions: Our study might indicate that arterial blood samples can also be used as well as venous samples to determine these parameters. On the other hand, elevated arterial lipid peroxides are associated with cardiovascular complications, presumably by decreasing PON1 activity.

BACKGROUNDAcute alcohol consumption can cause atrial fibrillation in patients with, and without, heart disease. Increased atrial electromechanical delay (EMD) has been associated with atrial fibrillation. We evaluated the atrial conduction properties by tissue Doppler imaging (TDI) echocardiography in healthy men following acute alcohol intake.METHODSThirty healthy male volunteers were included in this study. Baseline ECG, heart rate, blood pressure, and TDI echocardiographic findings were compared to readings taken one hour after drinking six 12-oz cans of beer (76.8 g of ethanol).RESULTSAlthough the blood pressure and heart rate remained similar before and one hour after alcohol intake, Pmax and Pd values were significantly prolonged (114.2 ± 10.4 vs 100.8 ± 10.6, p = 0.002; 50.6 ± 9.6 vs 34.5 ± 8.8, p < 0.0001). Interatrial EMD was significantly increased after drinking alcohol compared to the baseline (19.8 ± 9.2 vs 14.0 ± 5.5 ms, p < 0.0002).CONCLUSIONSAcute moderate alcohol intake was associated with an increased interatrial EMD obtained by TDI echocardiography. This finding may help explain how these patients express increased susceptibility to atrial fibrillation.

BACKGROUND:Coronary artery ectasia (CAE) is associated with increased sympathetic activity, plasma levels of inflammatory markers, and oxidative stress. These factors can also cause arrhythmias such as atrial fibrillation. Atrial conduction abnormalities in patients with CAE have not been investigated in terms of atrial electromechanical delay obtained by tissue Doppler echocardiography. METHODS:Ninety patients with pure CAE (n = 30), nonobstructive coronary artery disease (NO-CAD) (n = 30), and angiographically normal coronary arteries "controls" (n = 30) were compared in terms of electrocardiographic P-wave measurements, echocardiographic atrial electromechanical coupling (AEC) parameters, and interatrial conduction delay. RESULTS:The mean left atrium diameter in the CAE group was similar to the NO-CAD group but significantly greater than the control group (3.62 ± 0.28 vs 3.46 ± 0.32 vs 3.41 ± 0.31 cm, P = 0.021). P maximum and P-wave dispersion were significantly increased in the CAE group compared to the NOCAD group and the control group (108.6 ± 6.6 vs 97.9 ± 6.6 vs 93.5 ± 6.2, P = 0.0001; 34.4 ± 7.6 vs 23.2 ± 7.8 vs 19.4 ± 7.7 ms, P < 0.0001). Mitral AEC, septal AEC, and tricuspid AEC were significantly higher in the CAE group than the NO-CAD group and the control group (68 ± 4.5 vs 57 ± 4.5 vs 53 ± 4.6 ms, P < 0.0001; 50.7 ± 7 vs 42.7 ± 7 vs 41.7 ± 7.2 ms, P = 0.0001; 47 ± 6.7 vs 39.1 ± 6.7 vs 38.1 ± 6.6 ms, P < 0.0001). Interatrial conduction delay was significantly increased in the CAE group compared to the NO-CAD group and the control group (21 ± 5.5 vs 17.8 ± 5.6 vs 15 ± 5.6 ms, P < 0.0001).The correlation analysis demonstrated that the interatrial conduction delay and P-wave dispersion (Pd) were positively correlated with number of ectatic segments (ESN) (r = 0.41, P = 0.024 vs r = 0.49, P = 0.006). Stepwise multiple linear regression analysis revealed that the ESN was the only independent determinants of interatrial conduction delay (P = 0.024). CONCLUSION:Pd and interatrial conduction delay are prolonged in patients with CAE compared to NO-CAD patients and the healthy controls.

Background: Carotid intima‐media thickness (CIMT) is a potential indicator of subclinical atherosclerosis in patients with metabolic syndrome (MetS). Epicardial fat thickness (EFT) is suggested as a new cardiometabolic risk factor. We investigated the association between EFT and CIMT in patients with MetS. Methods: Forty patients with MetS were compared with 40 age‐ and sex‐matched subjects without MetS in terms of echocardiographic EFT, CIMT, anthropometric measurements, and metabolic profile in this cross‐sectional study. Results: The waist circumference, total and LDL‐cholesterol, fasting glucose, triglycerides, systolics and diastolic blood pressure levels, hs‐CRP, and homeostasis model assessment index for insulin resistance (HOMA‐IR) were significantly increased in patients with MetS. The EFT and CIMT were also increased significantly in patients with MetS compared to controls (7.2 ± 2 mm vs. 5.7 ± 1.9 mm; P = 0.001, 0.74 ± 0.1 mm vs. 0.59 ± 0.1 mm; P < 0.01, respectively). Echocardiographic EFT was the only independent predictor of CIMT in the multivariate analysis (standardized β coefficient = 0.74, P < 0.001). Conclusion: EFT is associated with increased CIMT in patients with MetS. (Echocardiography 2011;28:853‐858)

Objective - The levels of adiponectin, an anti-atherogenic protein, are decreased in patients with coronary artery disease. Syndrome X is associated with endothelial dysfunction, which is a key feature in the evolution of atherosclerosis. We sought to determine whether serum adiponectin levels are decreased in patients with syndrome X.Methods - Twenty-three syndrome X patients (14 men, 9 women) who presented with stable angina pectoris, had a positive non-invasive stress test or an abnormal myocardial perfusion scintigraphy single photon emission computed tomography (MPS SPECT) and a normal coronary angiogram, were included in our study, as were 17 asymptomatic healthy subjects (13 men, 4 women) with normal results from non-invasive stress testing. The serum adiponectin levels and lipid profiles of the patients and control subjects were determined with venous samples collected after a 12-hour fast. The results were analysed by a Mann Whitney U test.Results - Mean age (54.1 +/- 11.8 y in patients and 59.8 +/- 9.6 y in control subjects, P>0.05) and body mass index (28.0 +/- 3.3 in patients and 27.1 +/- 4.2 in control subjects, P>0.05) did not differ between the two groups.Adiponectin levels in patients with syndrome X (1.5 +/- 1.1 mu g/dl) were significantly lower than those in the control group (5.3 +/- 2.9 mu g/dl, P < 0.0001). Serum total cholesterol (TCHOL), triglyceride (TG), LDL, and HDL-cholesterol levels did not differ between the two groups (P>0.05).Conclusion - Serum adiponectin levels were lower in patients with syndrome X, and these low adiponectin concentrations may cause endothelial dysfunction. Thus, patients with a marked drop in adiponectin levels may be considered at high risk for future coronary events and may therefore benefit from additional pharmacological treatment.

ABS TRACT Ob jec ti ve: In cre a se in blo od glu co se con cen tra ti on can inac ti va te pa ra o xo na se-1 (PON1) and in cre a se li pid pe ro xi da ti on. The lack of pro tec ti ve ef fect of PON1 on li pid pe ro xi da ti on may be a fac tor in ac ce le ra ti on of co ro nary ar tery di se a se (CAD) in di a be tic pa ti ents. We the re fo re ai med to in ves ti ga te the chan ges in PON1 ac ti vity and li pid pe ro xi da ti on mar kers in di a be tic and non-di a be tic CAD pa ti ents. Ma te ri al and Met hods: We in ves ti ga ted the re la ti ons hip between se rum li pids, li pop ro te ins, thi o bar bi tu ric acid re ac ti ve-subs tan ces (TBARS), con ju ga ted di e nes (CD) and li pop ro te in(a) (Lp(a)) le vels and PON1 ac ti vity in CAD pa ti ents with and wit ho ut di a be tes. Results: Ele va ted le vels of Lp(a), CD and TBARS and dec re a sed le vel of high-den sity li pop ro te in choles te rol (HDL-C) and the ac ti vity of PON1 we re ob ser ved in CAD pa ti ents with and wit ho ut di a be tes by comparison to con trols. To tal cho les te rol and HDL-C have in cre a sed, TBARS and CD have dec re a sed in CAD pa ti ents wit ho ut di a be tes com pa red to tho se with di a be tes. On mul tip le logis tic reg res si on analy sis, risk fac tors as so ci a ted with CAD we re CD, TBARS and PON1/HDL-C ratio in non di a be tic CAD pa ti ents whe re as only glu co se le vels we re as so ci a ted with CAD in di a be tic CAD pa ti ents. Conc lu si on: PON1 ac ti vity and li pid pe ro xi da ti on mar kers have as so ci a ted with glu co se le vels in di a be tic pa ti ents and we re al so fo und to be the ma jor risk fac tor for CAD in di a be tes. We sug gest that ma in ta i ning the op ti mum glu co se le vels can be vi tal to re gu la te the oxi da ti ve ba lan ce in di a be tic pa ti ents. Furt her stu di es with a lar ge num ber of in di vi du als might be per for med for en han ce our know led ge.

Article Pseudohypoparathyroidism Type IA (PHP-Ia): Maternally Inherited GNAS Gene Mutation was published on February 1, 2009 in the journal Journal of Pediatric Endocrinology and Metabolism (volume 22, issue 2).

A 10-year-old girl with facial anomalies, mental retardation, peripheral lymphoedema, convulsions, cerebral cortical dysgenetic changes, bronchiectasis and chronic sinusitis is presented. She had features of both yellow nail syndrome and Hennekam syndrome. We think that our case might be a new congenital lymphoedema syndrome or an intermediate form between these syndromes.

BACKGROUND:An imbalance between the lipid peroxidation process and antioxidative protection is associated with the pathophysiology of coronary artery disease (CAD). The authors aimed to determine the relationship between the contributors of antioxidant protection, such as paraoxonase-1 (PON1) activity, albumin, vitamin C and ceruloplasmin (CP) levels, and lipid peroxidation indicators.METHODS:In the present study, the activity of PON1 was measured, together with serum concentrations of a variety of lipid constituents, albumin, vitamin C and CP levels, and lipid peroxidation indicators (conjugated dienes [CDs] and thiobarbituric acid-reactive substances [TBARS]). Data were gathered from 26 nondiabetic, angiographically proven, Turkish CAD patients and 26 healthy controls living in the Antalya region (Turkey).RESULTS:CAD patients had significantly lower PON1 activity, high-density lipoprotein cholesterol, vitamin C and albumin concentrations, and higher CP, CD and TBARS concentrations than the controls. In the entire study population (n=52), serum CP levels were positively correlated with TBARS and CD levels, and negatively correlated with albumin and vitamin C levels, as well as with PON1 activity. On multiple logistic regression analysis, risk factors associated with CAD included high CP and low albumin levels.CONCLUSIONS:CAD patients and controls were matched for age and sex, and high CP and low albumin levels were found to be independent risk factors for CAD. The present data gathered from the study group living in the Antalya region verifies that in CAD patients, CP impairs the oxidant-antioxidant balance in favour of the oxidants.

OBJECTIVESTo evaluate the clinical significance of body fat distribution in childhood obesity, we investigated the associations of subcutaneous and intraabdominal (preperitoneal and visceral) fat, estimated by ultrasonography, with metabolic risk factors.SUBJECTSFifty-one obese (age 11.5+/- 2.6 years) and 33 non-obese (age 12.2+/- 2.7 years) children.STUDY DESIGNCase control study.METHODSUltrasonographic measurements of fat thickness [maximum and minimum preperitoneal fat thicknesses (Pmax, Pmin), maximum and minimum subcutaneous fat thicknesses (Smax, Smin), visceral fat thickness (V), triceps (Tr) and subscapular (Ss) skin fold thicknesses] were documented. Blood pressures, lipid profiles, fasting insulin levels, glucose/insulin ratio and HOMA IR (homeostasis model assessment for insulin resistance) were evaluated in both groups and these parameters were correlated with body fat distribution.RESULTSIn the obese group, fasting insulin level was correlated to Smin, Smax, and Pmin. HOMA, accordingly, was also correlated to Smin, Smax, and Pmin. Fasting insulin level and HOMA showed no correlation with either Pmax or visceral fat thickness.ANALYSISAbdominal subcutaneous fat thickness measurements were the best predictors of hyperinsulinemia (R2: 0.32).CONCLUSIONWe did not observe a significant correlation between blood pressure, lipid parameters and body fat distribution in obese group. Abdominal subcutaneous fat thickness might be a better predictor of the risk for hyperinsulinemia in childhood obesity.

Ekokardiyografik olarak sol atriyoventrikuler olukta tespit edilen dairesel ekojenik yapilarin tanisal onemini ve ayirici tanidaki yerini; dilate koroner sinusu olan ve sistemik venoz donus anomalisi bulunan atriyal septal defekt olgumuzu sunarak, vurgulamak istedik. (Pamukkale Tip Dergisi, 2008;1:42-44).

The anomalous origin of the left circumflex coronary artery from the right sinus of Valsalva is a relatively common anatomical variation. Difficulties may occur in the diagnostic procedure, but recognition and adequate visualization of the anomaly is essential for proper patient management, especially in patients undergoing evaluation for percutaneous coronary intervention, coronary artery surgery or prosthetic valve replacement. In the present report, a patient who had undergone percutaneous coronary intervention for a right coronary artery lesion after inferior myocardial infarction is described. The anomalous origin of the left circumflex coronary artery arising independently from the right sinus of Valsalva was previously undetected.

Entrapment of coronary angioplasty hardware is one of the rare complications of percutaneous coronary artery interventions. We reported herein a case of 58-year-old man with an entrapped balloon catheter and guidewire within the right coronary artery during the application of a conventional balloon angioplasty for in-stent restenosis. Surgical removal of the entrapped balloon catheter and guidewire was performed successfully with a coronary artery bypass grafting to the affected vessel. The application of the balloon angioplasty for in-stent restenosis requires every caution against such type of complications.

A single coronary artery is a very rare type of coronary artery anomaly that may present in various forms. A patient is presented in whom the right coronary artery coursed as the terminal branch of the left circumflex artery. This is the second case of this anomaly in the literature.