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Objectives: Carbamoyl phosphate synthetase 1 (CPS-1) deficiency is a rare urea cycle disorder with an estimated prevalence of one in 150,000-200,000 live births. Patients often present with hyperammonemia shortly after protein feeding in the early days of life, and early-onset type is associated with high mortality rate., Case Presentation: We present here a case of a newborn male with a history of two deceased siblings whose ammonium level exceeded 200 μmol/L on the first day after birth, and who was started on dextrose infusion and ammonia-scavenging therapy after oral feeding was discontinued. Peritoneal dialysis was initiated after the patient's ammonia level exceeded 500 μmol/L. At the age of five months, the patient underwent hemodialysis due to elevated ammonia levels accompanied by lethargy. The patient's ammonia levels were successfully brought under control, and the patient underwent a liver transplantation at the age of six month, donated by the father., Conclusions: We present this case to emphasize the efficacy of liver transplantation from a parent carrying a CPS-1 deficiency. The authors believe that, with further support from future studies, the use of carglumic acid can improve the prognosis in the chronic management of CPS-1 deficiency., (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)

Objective: Presence of diabetic retinopathy (DR) may be used as an early marker of atherosclerosis in type 2 diabetes mellitus (DM) patients. This study aimed to investigate the relationship between the presence of DR and carotid intima-media thickness (CIMT), which is an indicator of early atherosclerosis in patients with type 2 DM., Methods: Thirty DM patients with retinopathy (DR group), 28 DM patients without retinopathy (non-DR group), and 27 healthy controls (control group) were included in the study. CIMT was assessed using a high-resolution B-mode ultrasonography device., Results: Mean CIMT was found to be 0.9±0.17 mm in the DR group, 0.8±0.16 mm in the non-DR group, and 0.7±0.13 mm in the control group. CIMT was found to be statistically significantly higher in the DR group compared to the other 2 groups (p<0.001). When multivariate analysis was performed, presence of DR still remained as an independent risk factor for increased CIMT values., Conclusion: Presence of DR in type 2 DM patients is an independent risk factor in terms of increased CIMT, which is considered to be a finding of subclinical atherosclerosis. Therefore, we believe that type 2 DM patients with retinopathy should be closely followed in terms of cardiovascular events.

Objectives: The present report describes patients with acute ST-elevation myocardial infarction who had at least two lesions in the culprit vessel (CV) during primary percutaneous coronary intervention (PCI). Here, we aimed to examine two different strategies, namely, PCI of only culprit lesion (CL) versus PCI of all lesions in the CV in the setting of acute ST-elevation myocardial infarction., Patients and Methods: Patients who underwent primary PCI were examined for the presence of an additional lesion in the infarct-related artery and divided into two groups according to the PCI strategy: CV versus CL groups. Coronary angiograms were examined for coronary thrombolysis in myocardial infarction (TIMI) flow and major clinical outcomes were determined., Results: Of 637 patients, 472 (74.1%) underwent primary PCI for the CV (CV group) and 165 (25.9%) underwent primary PCI only for CL (CL group). TIMI flow before primary PCI and after stenting of the CL was similar; however, TIMI flow after completion of the procedure was significantly better in the CL group (P=0.022). The composite of death, nonfatal myocardial infarction and repeat revascularization was significantly better in the CL group (P=0.041) and early stent thrombosis was observed more commonly in the CV group [14 (3.0%) patients vs. 1 (0.6%) patient, P=0.09]., Conclusion: In the presence of an additional lesion in the CV during primary PCI, deferring stenting for the non-CL in the culprit artery after stenting the CL may be considered to prevent the development of no-reflow or slow-reflow, and thus major clinical adverse events may be reduced.

Objective: To measure the serum erythropoietin (EPO) level in patients with saphenous vein grafts (SVGs) and to compare the EPO level in those with and without SVG disease., Subjects and Methods: The study included 85 consecutive patients with a history of coronary artery bypass graft surgery that underwent elective coronary angiography. Patients with >30% stenosis (diseased grafts) in at least one saphenous graft were included in group 1 (diseased group: n = 40), and group 2 (nondiseased group: n = 45) consisted of patients without diseased SVGs. The EPO level was measured using enzyme-linked immunosorbent assay (ELISA) using a commercially available ELISA kit; x03C7;2 test and independent samples t test were used where appropriate. Logistic regression was used for multivariate analysis., Results: There were not any significant differences in age, gender, or cardiovascular risk factors between the two groups except for increased triglyceride and low high-density lipoprotein levels in group 2. The EPO level was significantly higher in the nondiseased SVG group than in the diseased SVG group (25.5 ± 9.6 vs. 17.8 ± 6.8 mU ml-1, p = 0.002). Multivariate logistic regression analysis showed that the serum EPO level was an independent predictor of SVG disease (OR 1.14, 95% CI 1.06-1.24, p = 0.001)., Conclusion: In this study, SVG disease was associated with a low serum EPO level, suggesting that a low EPO level could be predictive of and contributes to the pathophysiology of SVG disease., (© 2015 S. Karger AG, Basel.)

Objective: Cardiac resynchronization therapy (CRT) improves heart rate variability (HRV) and heart rate turbulence (HRT) parameters. Herein, our aim was to compare these parameters with intracardiac-cardioverter defibrillator (ICD) patients with similar functional status to detect possible additional benefits of CRT on autonomic functions., Methods: Patients who had systolic HF (NYHA class II and III) with an ejection fraction <35% were enrolled in this observational, cross-sectional study. These patients were implanted either an ICD or a CRT device. A 24-hour Holter recording was obtained to assess HRV and HRT parameters in 2 groups. Unpaired t-test and Chi-square test were used for comparisons between 2 groups. Logistic regression analysis was performed to determine the variables affecting functional status., Results: Of 105 patients included in the study; 55 had CRT and 50 had ICD device. The baseline characteristics of the patients were similar in both groups. SDNN, SDANN, SDNN index, and LFnu were similar in both groups; however, RMSSD, pNN50, HFnu, LF/HF ratio, turbulence slope and albeit to a non-significant value turbulence onset were better in CRT group. When the HRV and HRT parameters were compared according to functional status, patients in functional class II had significantly better HRV and HRT parameters when compared to the ones in class III (p<0.05 for all). Regression analysis showed that only SDNN was associated with functional class [OR: 0.89 (95% CI: 0.80-0.98), p=0.03]. After the covariance analysis to eliminate the effects of functional status on HRV and HRT parameters; the parameters mostly related with the parasympathetic system activity, namely RMSSD, pNN50, HFnu, LF/HF ratio, turbulence onset and turbulence slope were still better in CRT group., Conclusion: The most striking finding in our study is that HRV and HRT values related with parasympathetic activation are better in CRT patients when compared to ICD patients with similar functional status. Therefore, upgrading to CRT may have additional benefits on autonomic functions, which needs further investigation.

Objectives: Monocytes and mature macrophages play significant roles after myocardial infarction. Here, our aim is to investigate the monocyte heterogeneity in acute ST elevation myocardial infarction (STEMI) and non-STEMI separately and determine any possible relationships between monocyte heterogeneity and coronary angiographic characteristics., Methods: Thirty STEMI, 30 non-STEMI, and 25 stable angina pectoris patients were enrolled. Blood samples were taken immediately at admission, and on days 2, 3, 4, 5, and 7 after STEMI or non-STEMI for cytometric analysis to determine monocyte heterogeneity. Peak creatine kinase (CK) and CK-myocardial band (CK-MB) levels were used to determine the severity of myocardial infarction. Coronary angiographic findings, such as the Gensini score, the presence of acute total occlusion, and development of no reflow after stenting, were noted., Results: The peak levels of CD14++CD16- monocytes were higher and were reached later in the STEMI group (631.6±116.7 vs. 539.6±103.0/mm, P=0.003; day 2.73±0.64 vs. 2.27±0.74, P=0.011). Peak CK and CK-MB levels were correlated positively with CD14++CD16- monocytes in the non-STEMI group. The Gensini score was found to be correlated with the peak CD14+CD16+ monocyte levels in the non-STEMI and stable angina pectoris groups. Patients with total occlusion of the culprit artery had significantly higher levels of CD14++CD16- monocytes (642.3±113.2 vs. 532.5±98.2/mm, P<0.001). The peak levels of CD14++CD16- monocytes were higher in patients with no reflow compared with the patients with thrombolysis in myocardial infarction grade 3 flow after percutaneous coronary intervention of the culprit lesion (688.1±104.6 vs. 565.1±111.0, P=0.002). In patients with no reflow, we also found higher peak CD14+CD16+ monocyte levels (82.3±12.1 vs. 71.2±10.6, P=0.02)., Conclusion: Monocyte heterogeneity differs in STEMI and non-STEMI. Peak levels of CD14++CD16- monocytes were higher and were reached later in the STEMI group compared with the non-STEMI group. More importantly, worse angiographic characteristics related to prognosis are associated with monocyte heterogeneity in both STEMI and non-STEMI patients.

Objective: To compare coronary blood flow in diabetic, prediabetic and nondiabetic patients with angiographically normal coronary arteries., Methods: In the present retrospective study, 759 patients with normal coronary arteries who underwent coronary angiography between January 2010 and July 2011 were enrolled. The angiograms of eligible patients were reviewed again for thrombolysis in myocardial infarction (TIMI) frame counts. Patients were subsequently grouped according to their diabetes mellitus (DM) status: group 1 nondiabetic; group 2 prediabetic; and group 3 DM., Results: TIMI FRAME COUNTS FOR EACH OF THREE CORONARY ARTERIES WERE FOUND TO BE SIGNIFICANTLY DIFFERENT AMONG GROUPS USING ANOVA TESTING (CORRECTED TIMI FRAME COUNTS FOR LEFT ANTERIOR DESCENDING ARTERY AND TIMI FRAME COUNTS FOR LEFT CIRCUMFLEX AND RIGHT CORONARY ARTERIES, RESPECTIVELY, IN THREE GROUPS: group 1 20.2±6.8, 18.8±5.4 and 19.9±8.7; group 2 22.2±8.0, 20.8±7.9 and 22.2±8.8; group 3 22.3±9.2, 21.6±10.2 and 22.3±10.6; P<0.01 for each coronary artery). When the groups were compared with one another using post hoc tests, group 2 and group 3 had similar TIMI frame counts for all three coronary arteries, but both of these groups had significantly higher TIMI frame counts than group 1 (P for each comparison was <0.017)., Conclusions: The present study has, for the first time, shown that coronary flow measured by TIMI frame count is slower in prediabetic patients than in nondiabetic patients, and is similar to coronary flow in diabetic patients. This result provides supportive evidence that endothelial dysfunction develops in the prediabetic phase before overt DM manifests.

Objective: To investigate the cross-sectional association between serum adipocyte fatty acid-binding protein (A-FABP) level and diagnosis or severity of obstructive sleep apnea syndrome (OSAS) and some echocardiographic indices related with cardiac dysfunction., Methods: In this study, plasma A-FABP and high-sensitivity C-reactive protein concentrations were measured, and echocardiography was performed in subjects without any cardiac or pulmonary disease who were referred for evaluation of OSAS. According to the apnea-hypopnea index (AHI), subjects were classified into 3 groups: control group (AHI <5; n = 33), mild to moderate OSAS (30 > AHI ≥ 5; n = 30), and severe OSAS (AHI ≥ 30; n = 31)., Results: Levels of A-FABP were significantly different between the groups (P < 0.001). After post hoc analyses, all 3 groups were also significantly different from each other. The levels of A-FABP were significantly higher in the patients with severe OSAS (36.4 ± 13.0 ng/mL) than in the control subjects (9.3 ± 4.6 ng/mL; P < 0.0001) or in patients with mild-moderate OSAS (24.5 ± 10.5 ng/mL; P < 0.001). Patients with myocardial performance index (MPI) greater than 0.47 had higher serum A-FABP levels than those with MPI of less than 0.47 (31.8 ± 13.2 ng/mL vs 10.9 ± 6.3 ng/mL; P = 0.001). Multivariable regression analyses revealed that increased serum A-FABP concentrations were independently associated with increased left ventricular mass index (β = 0.195; P = 0.033) and increased MPI (β = 0.165; P = 0.015)., Conclusions: Increased A-FABP levels were found in the patients with OSAS, which were correlated significantly with left ventricular mass index and MPI. Further prospective studies are needed to clarify whether increased serum A-FABP level is a marker or a potential mechanism for left ventricular involvement in patients with OSAS.

Background and Purpose: Coronary collateral circulation (CCC) has been demonstrated to be impaired in patients with type 2 diabetes mellitus which is characterized by insulin resistance. In this study, our purpose was to find out a possible relationship between CCC and non-alcoholic fatty liver disease (NAFLD), which is also characterized by insulin resistance, in non-diabetic patients with severe coronary artery disease., Methods: One hundred and fifty-one consecutive non-diabetic patients with stable angina pectoris who were found to have >95% stenosis of at least one major coronary artery were enrolled. Abdominal ultrasonography (USG) was performed after coronary angiography to determine the presence or absence of NAFLD., Results: According to Cohen-Rentrop method, 81 (53.7%) patients had good and 70 (46.3%) patients had poor collateral development. NAFLD was present in 98 patients (64.9% of study population) and more prevalent in patients with poor collateral development [58 of 70 patients (82.9%) vs. 40 of 81 patients (49.4%), p<0.001]. Mean Rentrop collateral score was significantly lower in patients with NAFLD (1.2±1.2 vs. 2.1±0.9, p<0.001). Shorter angina time, metabolic syndrome, presence of insulin resistance, less severe coronary artery disease, and female sex were also associated with poor collateral development. When the logistic regression analysis was performed using these factors, NAFLD was still significantly related to poor collateral development., Conclusions: Presence of NAFLD is associated with poor coronary collateral development in non-diabetic patients with severe coronary artery disease independent from other variables, especially metabolic syndrome and insulin resistance. Which mechanisms play role in this association is needed to be cleared with further studies., (Copyright © 2012 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.)

Objectives: An increased circulating monocyte count has been found to be related to good collateral development in patients with stable coronary artery disease. Our aim in this study was to determine any possible relationship between the levels of circulating monocyte subsets and coronary collateral development., Methods: Patients who had greater than 95% stenosis of at least one major coronary artery in their first coronary angiogram were included consecutively in this study. Collateral development was graded as good and poor according to the Cohen-Rentrop method. Blood samples were subjected to cytometric analysis for the determination of monocyte subsets, CD14++CD16- and CD14+CD16+ monocytes., Results: Out of 105 patients, 55 had good and 50 had poor coronary collateral development. When the baseline characteristics were compared, the monocyte count was significantly higher in the good collateral group (517±151 vs. 396±109/mm3, P<0.001). Cytometric analysis indicated that CD14++CD16- levels were significantly higher in the good collateral group (422±147 vs. 298±105/mm3, P<0.001). CD14+CD16+ cells did not differ between groups (80±29 vs. 84±29/mm3, P=0.41). When multivariate analysis was performed, increased CD14++CD16- levels were still significantly associated with good collateral development [odds ratio: 1.009 (1.005-1.014), P<0.001]., Conclusion: Our present results are the first to show a significant association between increased circulating CD14++CD16- monocyte levels and good coronary collateral development. Further studies are needed to better understand the relationship between different subsets of monocytes and collateralization.

We report on a rare case of persistent left superior vena cava (PLSVC) with absent right superior vena cava (RSVC), an anomaly that is also known as isolated PLSVC. This venous malformation was identified incidentally in a 30-year-old woman during thoracic multi-detector computed tomography (MDCT), which was performed with the suspicion of intra-thoracic malignancy. On thoracic MDCT, the RSVC was absent. A bridging vein drained the right jugular and right subclavian veins and joined the left brachiocephalic vein in order to form the PLSVC, which descended on the left side of the mediastinum and drained into the right atrium (RA) via a dilated coronary sinus (CS). The patient was referred to the cardiology department for further evaluation. Transthoracic echocardiography revealed a dilated CS, and agitated saline injected from the left or right arms revealed opacification of the CS before the RA. The patient had no additional cardiac abnormality. Isolated PLSVC is usually asymptomatic but it can pose difficulties with central venous access, pacemaker implantation and cardiothoracic surgery. This condition is also associated with an increased incidence of congenital heart disease, arrhythmias and conduction disturbances. A wide spectrum of clinicians should be aware of this anomaly, its variations and possible complications.