ACE gene I/D polymorphism and risk of sarcoidosis development in Turkish patients.

INTRODUCTION: Etiology of sarcoidosis is unknown but the prevalence of disease in different ethnic groups and identical twins, family characteristics indicate that genetic predisposition is a possible factor. The angiotensin-converting enzyme (ACE) has been implicated in the pahophysiology of sarcoidosis. The aim of this study is to investigate the influence of a polymorphism in I/D (Insertion/Deletion) of the ACE gene on the susceptibility to sarcoidosis. PATIENTS AND METHODS: Our study included 70 Turkish patients who had histopathological diagnosis of sarcoidosis and 69 healthy age and sex matched control subjects. Polymerase chain reaction was used for analysing an I/D polymorphism in the gene coding for ACE. Genotyping was done according to bands that were formed on the agarose gel electrophoresis. Chi-square test was used for statistical analysis and p< 0.05 was accepted as significance. RESULTS: Although the D allele was more frequent in the sarcoidosis patients group, the frequency of the D allele was 67% and 54% respectively in the sarcoidosis and the control group. No significant difference in allele frequencies of I/I, I/D, D/D polymorphisms was observed between the sarcoidosis and control group (p> 0.05). Similarly allele frequencies of I/I, I/D, D/D polymorphisms was not different between sarcoidosis patients with extrapulmonary involvement and sarcoidosis patients without extrapulmonary involvement (p> 0.05). CONCLUSION: Our findings have showed that contribution of ACE gene polymorphisms to susceptibility of disease development in Turkish sarcoidosis patients is not different from the healthy control subjects.

Impaired left ventricular systolic and diastolic functions in patients with early grade pulmonary sarcoidosis.

AIMS: Cardiac sarcoidosis is symptomatic in only 5% of patients, and it is an independent predictor of mortality and carries a very poor prognosis. In our study, we aimed to assess left ventricle (LV) systolic and diastolic functions with tissue Doppler imaging (TDI) in patients with early grade pulmonary sarcoidosis. METHODS AND RESULTS: The study population included 55 patients with Grade I-II sarcoidosis (41 females, 14 males, mean age: 47.9 ± 10.1) and 22 healthy subjects. LV lateral and septal wall early myocardial peak velocity (E(m)), late myocardial peak velocity (A(m)), E(m) to A(m) ratio, myocardial relaxation time (RT(m)), myocardial systolic wave (S(m)) velocity, isovolumic acceleration (IVA), myocardial pre-contraction time (PCT(m)), contraction time (CT(m)), and the PCT(m) to CT(m) ratio were measured. No statistically significant difference was detected between the groups according to age, gender, body mass index, systolic and diastolic blood pressure, or heart rate. LV systolic parameters, LV septal, and lateral wall IVA, were significantly lower, and the PCT(m) to CT(m) ratio (P = 0.026) was higher at the septal annulus as compared with control group. E(m), a LV diastolic parameter, was significantly lower at the septal annulus. CONCLUSION: Cardiac sarcoid involvement is not rare and is treatable. It should be identified at an early stage. TDI, especially IVA, may be a suitable tool for the early detection of subclinical LV sarcoid involvement.

[Impaired myocardial performance in sarcoidosis]. / Sarkoidozda bozulmus miyokard performansi.

Despite myocardial sarcoid involvement has been reported in 20-27% in autopsy series, only 5% of the patients are clinically symptomatic. This study was planned to evaluate right and left ventricular functions in patients with early stage sarcoidosis (stage I and II) without any findings of cardiac involvement with Tei index which globally shows systolic and diastolic functions of the ventricles was used. Seventy-two patients under follow-up for sarcoidosis without cardiac involvement (53 women, 19 men; mean age 49.1 ± 10.3 years) and nineteen age-matched healthy control subjects (14 women, 5 men; mean age 48.7 ± 6.5 years) were enrolled in the study. All subjects were evaluated with two-dimensional and Doppler echocardiography. Right and left ventricle Tei indices (myocardial performance index) were calculated from measured Doppler parameters. Peak velocity of the mitral A wave (A) was higher, peak velocity of the mitral E wave, E/A ratio were lower; and ejection time was shorter in patients with sarcoidosis (p< 0.05) compare to controls. Peak velocity of the tricuspid A wave was higher, E wave deceleration time was longer and E/A ratio was lower (p< 0.05) in sarcoidosis group. While left ventricular Tei index was higher in patients with sarcoidosis (p= 0.021), right ventricular Tei index was similar to healthy controls' (p>0.05). Left ventricular myocardial performance is disturbed in patients with early stage sarcoidosis. This can be related to a subclinical involvement of sarcoidosis.

GSTT1 and GSTM1 gene polymorphisims in sarcoidosis.

INTRODUCTION: Sarcoidosis is a granulomatous disease of unknown cause, which affects all systems, especially the lungs and the lymphatic system. Genetic and environmental factors are held accountable for the etiology. Based on the general opinion, sarcoidosis develops after exposure to a specific environmental agent by genetically susceptible individuals.  The present study aimed to evaluate the disease susceptibility of the GSTT1 and GSTM1 gene polymorphisms in the patients with sarcoidosis. METHOD: The present study included 78 patients; 38 patients with histopathologically verified sarcoidosis and 40 control subjects. Multiplex PCR method was used to determine the GSTT1 and GSTM1 gene polymorphisms. The genotype was determined based on the bands formed in the agarose gel electrophoresis. The statistical analysis was done using the chi-square test. RESULTS: The positive/negative genotype rates were 79%/21% and 53%/47%, respectively in the case group for the GSTT1 and GSTM1 gene polymorphisms, whereas the positive/negative genotype rates were 77%/23% and 55%/45% in the control group. There was no statistically significant difference in the positive and negative genotypes compared with the case group and the control group for the GSTT1 and GSTM1 gene polymorphisms (p > 0.05). DISCUSSION: The results from the present study suggest that there is not any association with the control group for the disease susceptibility of the GSTT1 and GSTM1 gene polymorphisms in patients with sarcoidosis, and this result should be supported by large-scale studies because of the limited number of cases in the present study.

Relationship between disease severity and D-dimer levels measured with two different methods in pulmonary embolism patients.

Pulmonary embolism (PE) is diagnosed with increasing frequency nowadays due to advances in the diagnostic methods and the increased awareness of the disease. There is a tendency to use non invasive diagnostic methods for all diseases. D-dimer is a fibrin degradation product. We aimed to detect the relationship between disease severity and the D-dimer levels measured with two different methods. We compared D-dimer levels in cases of massive vs. non-massive PE. A total of 89 patients who were diagnosed between 2006 and 2008 were included in the study. Group 1 included patients whose D-dimer levels were measured with the immunoturbidimetric polyclonal antibody method (D-dimerPLUS®), while Group 2 patients made use of the immunoturbidimetric monoclonal antibody method (InnovanceD-DIMER®). In each group, the D-dimer levels of those with massive and non-massive PE were compared, using the Mann Whitney U test. The mean age of Group 1 (25 F/26 M) was 56.0 ± 17.9 years, and that of Group 2 (22 F/16 M) was 52.9 ± 17.9 years. There was no statistical difference in gender and mean age between the two groups (p > 0.05). In Group 1, the mean D-dimer level of massive cases (n = 7) was 1444.9 ± 657.9 µg/L and that of nonmassive PE (n = 34) was 1304.7 ± 350.5 µg/L (p > 0.05). In Group 2, the mean D-dimer level of massive cases (n = 6) was 9.7 ± 2.2 mg/L and that of non-massive PE (n = 32) was 5.9 ± 1.3 mg/L (p < 0.05). The mean D-dimer levels of massive cases as measured with the immunoturbidimetric monoclonal antibody method were significantly higher. Pulmonary embolism patients whose D-dimer levels are higher (especially higher than 6.6 mg/L) should be considered as possibly having massive embolism. Diagnostic procedures and management can be planned according to this finding.