A novel mutation of sgk-1 gene in central serous chorioretinopathy

AIM

To investigate the association of serum glucocorticoid kinase gene-1 (SGK-1) DNA variants with chronic central serous chorioretinopathy (CSC).

METHODS

We enrolled 32 eyes of 32 patients who were diagnosed with chronic CSC and composed 32 normal eyes as a control group. Peripheral blood was used for DNA extraction and polymerase chain reaction (PCR) amplification. SGK1 gene was sequenced by using BigDye^® Terminator v3.1 cycle sequencing KIT (Applied Biosystems, Foster City, CA, USA). The SGK1 gene and its variants were investigated in CSC patient group and control group.

RESULTS

We identified a new polymorphism M32V in two person in the patient group (Minor allele frequency (MAF)=0.009) on the region of 1-60 amino acids. The rs1057293 was located in the encoder region of the SGK 1 gene but not associated with CSC (P=0.68). An intrinsic rs1743966 is also not associated (P=0.28).

CONCLUSIONS

The new polymorphism M32V is located on the region of 1-60 amino acids which is necessary for localization to the mitochondria in CSC patient. This mutation is probably important for the energy metabolism and plays an important role in the cellular response to hyperosmotic stress and other stress stimuli. Both rs1057293 and rs1743966 are not associated with CSC.     

Turkey Handwashing Survey: suggestion for taking the ecological model into better consideration

Objectives

This study is aimed to find out the handwashing habits and their relations to the socio-economic variables.

Methods

The sampling is determined regarding the address-based population registration system of the country. The multi-staged stratified cluster sampling method was used. It is conducted by a face to face questionnaire with 6854 persons. 22 questions are asked whether they are washing their hands or not related to different situations, the results are graded and the “Handwashing Habits Score” (HHS) is obtained. The reasons for not handwashing were evaluated by categorizing as individual, environmental and combined reasons.

Results

The HHS is increasing in the older age groups (β = 0.148, p < 0.001), females (β = 0.306, p < 0.001), citizens of urban settlement (β = 0.061, p < 0.001), higher education levels (β = 0.191, p < 0.001). The reasons for not handwashing were found as 53.3 % individual, 39.2 % environmental, 7.5 % combined. The frequency of mentioning not washing hands because of the environmental reasons is getting higher in the older age groups, in the urban side, and in the higher education level (p < 0.001).

Conclusions

The handwashing habits are shaped by the determinant networks which form a complex structure by intertwining individual, socio-economic and environmental factors in different sub-groups with various weights. This result might contribute to the efforts of conceptualizing the health behaviors with ecological model.     

Blastic Plasmacytoid Dendritic Cell Neoplasm: Single Center Experience on a Rare Hematological Malignancy

PurposeBlastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and poor prognostic hematological malignancy. There is still no standard treatment established for BPDCN patients. We aim to summarize the main clinical, biological features and treatment of 9 BPDCN patients.MethodsNine patients with BPDCN who had been diagnosed between July 2008 and December 2018 in Ankara University School of Medicine, were retrospectively evaluated.ResultsAll patients (n = 9) were male, median age was 64 (21–80). Five patients (55.6%) had bone marrow infiltration, 5 patients (55.6%) cutaneous lesions, 6 patients (66.7%) lymph node involvement, 2 patients (22.2%) central nervous system involvement and 2 patients (22.2%) spleen involvement at time of diagnosis. Complex karyotype was observed in 2 patients. CHOP was given to 5 patients (55.6%), hyper-CVAD to 2 patients (22.2%), fludarabine, cyclophosphamide and mitoxantrone to 1 patient (11.1%) and cyclophosphamide, etoposide, methylprednisolone to 1 patient (11.1%) as first line chemotherapy. Four patients (44.4%) underwent allogeneic hematopoietic stem cell transplantation (AHSCT) in complete remission (CR) 1. Venetoclax was given to a transplant ineligible patient who had skin and lymph node involvement, with the off-label use. The median follow-up time was 15.9 months (3–48.6 months). Estimated median overall survival was 15.9 + 1.6 (95% CI 12.7–19.1) months.ConclusionIntensive induction therapies followed by AHSCT in CR seems to be best approaches for patients with BPDCN. Thus, more effective treatment strategies particularly targeted therapies should be warranted to improve the survival of patients with this rare disease.     

Does the Myocardial Performance Index Affect Pulmonary Artery Pressure in Patients With Mitral Stenosis? A Tissue Doppler Imaging Study

BACKGROUND: The relation between systolic pulmonary artery pressure (PAP) and mitral stenosis (MS) has been poorly understood. Although the mitral valve area (MVA) is an important factor affecting the PAP, there is a wide spectrum of the PAP in patients with MS despite a similar MVA. So, we analyzed whether the left and right ventricular myocardial performance index (MPI) correlated with the PAP. METHODS: Two-dimensional Doppler echocardiography was performed in 46 patients with MS. The left atrial diameter, mean mitral gradient, and MVA were measured. The PAP was derived from the tricuspid regurgitant jet velocity. The ejection time (ET), isovolumetric relaxation time (IRT), and contraction time (ICT) were measured on annulus of interventricular septum, lateral, inferior and anterior wall of left ventricle, and right ventricle free wall from apical two- and four-chamber views in patients with MS and 40 age-matched healthy patients by tissue Doppler imaging (TDI). Then the MPI was calculated as (IRT + ICT)/ET for both left and right ventricle. The correlation of PAP with MVA, mean mitral gradient, left atrial diameter, and left and right ventricular MPI was evaluated. RESULTS: MVA and PAP were measured as 1.57 +/- 0.39 cm2 (0.8-2.5 cm2)and 42 +/- 16 mmHg, respectively. It was determined that the MPI increased in patients with MS(0.59 +/- 0.1 vs 0.48 +/- 0.07, P < 0.001). It was also demonstrated that the MVA, left atrial diameter, mean diastolic gradient, and left ventricular MPI were correlated with PAP(r =-0.39 [P = 0.007], r = 0.43 [P = 0.003], r = 0.58 [P < 0.001], and r = 0.65 [P < 0.001], respectively). In multivariate analysis, although the PAP correlated with mean diastolic gradient and MPI (r = 0.39 [P = 0.013], and r = 0.48 [P < 0.001]), it did not correlate with left atrial diameter and MVA. The PAP also correlated with right ventricular MPI(r = 0.63 [P < 0.001]). CONCLUSION: This study demonstrates that the left ventricular MPI obtained by TDI is an important marker of PAP, and right ventricular MPI correlates with the PAP in patients with MS.     

Exercise-induced changes in QT interval duration and dispersion in patients with isolated myocardial bridging

BACKGROUND: Isolated myocardial bridging (MB) often is considered to be an unimportant angiographic finding; however, its association with cardiovascular event has been shown. In this study we aimed to assess exercise-induced electrocardiographic (ECG) changes and susceptibility to arrhythmia in patients with MB. METHOD: 21 consecutive patients who had angiographically proven MB (group I) and 25 subjects (group II) who had normal coronary arteries underwent exercise test using Bruce protocol. Before and after the exercise test the changes in QT interval duration and dispersion were compared. RESULTS: Baseline characteristics of both groups were similar. Heart rate significantly increased after exercise test in both groups. In group I, after exercise mean QT(max) and QT(min) durations did not change significantly compared to baseline values, respectively. (QT(max): 411+/-20 vs. 421+/-18 ms, p>0.05 and QT(min): 380+/-12 vs. 378+/-10 ms, p>0.05). However, following exercise test QT dispersion (QT(d)) and corrected QT dispersion (QT(cd)) significantly increased when compared to baseline values, respectively. (34+/-13 vs. 66+/-14 ms, p<0.05 and 37+/-14 vs. 69+/-17 ms, p<0.05) On the other hand, in control group QT(max) and QT(min) durations, QT(c) and QT(cd) did not change significantly compared to baseline values, respectively. (QT(max): 408+/-18 vs. 412+/-17 ms, p>0.05 and QT(min): 390+/-11 vs. 387+/-10 ms, p>0.05; QT(d): 25+/-14 vs. 31+/-16 ms, p>0.05; QT(cd): 27+/-15 vs. 33+/-17 ms, p>0.05). CONCLUSION: Treadmill exercise test significantly increased QT dispersion in patients with MB. This increase may result from exercise-induced ischemia at the area perfused by bridged artery.     

Inspiratory capacity and forced expiratory volume in the first second in exacerbation of chronic obstructive pulmonary disease

Object: Periodic exacerbations of symptoms are the major cause of morbidity, mortality and health care costs in patients with chronic obstructive pulmonary disease (COPD). Dyspnea is the major factor affecting the comfort of patients in the exacerbation of COPD. In this study, we aimed to compare the value of forced expiratory volume in the first second (FEV₁) and inspiratory capacity (IC) measured before and after treatment in exacerbations and in the improvement in dyspnea. Methods: Eighty‐seven patients (male/female, 80/7; mean age, 63 ± 7) with COPD exacerbation were included in this study. All subjects underwent spirometric tests on the first day and at the end of treatment. The subjects were asked to quantify the sensation of dyspnea that was described to them as a nonspecific discomfort associated with the act of breathing. The patients quantified dyspnea by pointing to a score on a large Borg scale from 0 to 10 arbitrary units. In the beginning and at the end of treatment, forced vital capacity (FVC), FEV₁, forced expiratory flow rate between 25% and 75% of FVC (FEF25–75), peak expiratory flow rate (PEF), IC and Borg score (BS) values were compared. Results: After treatment of COPD exacerbations, FEV₁, FEF25–75, PEF and IC significantly increased, and the BS significantly decreased compared to the initial values. The increase in IC was more significantly correlated with the improvement in BS compared with FEV₁. Admission and discharge day BS was negatively correlated with FEV₁, FEF25–75 and IC. Conclusion: We have shown a more dramatic improvement in IC compared with FEV₁ in patients treated as a result of acute exacerbation of COPD. These data suggest that IC may be more useful than FEV₁ during acute exacerbation of COPD. Moreover, IC better reflects the severity of dyspnea in these patients. Please cite this paper as: Yetkin O and Gunen H. Inspiratory capacity and forced expiratory volume in the first second in exacerbation of chronic obstructive pulmonary disease. The Clinical Respiratory Journal 2008; 2: 36–40.     

New parameters in identification of right ventricular myocardial infarction and proximal right coronary artery lesion

OBJECTIVE: The diagnosis of right ventricular myocardial infarction (RVMI) accompanied by acute inferior myocardial infarction (MI) is still a problem that we encounter. This study was designed to find out the usefulness both of peak myocardial systolic velocity (Sm) and of the myocardial performance index (MPI) of the right ventricle measured by pulsed-wave tissue Doppler imaging (TDI) in assessing right ventricular function. METHODS: Sixty patients who experienced a first acute inferior MI (mean [+/- SD] age, 57 +/- 9 years) were prospectively assessed. An ST-segment elevation of >or= 0.1 mV in V(4)-V(6)R lead derivations was defined as an RVMI. From the echocardiographic apical four-chamber view, the Sm, the peak early diastolic velocity, peak late diastolic velocity, the ejection time, the isovolumetric relaxation time, and the contraction time of the right ventricle were recorded at the level of the tricuspid annulus by using TDI. Then, the MPI was calculated. The patients were classified into the following three groups, according to the localization of the infarct-related artery (IRA) detected using coronary angiography: group I, proximal right coronary artery; group II, distal right coronary artery; and group III, circumflex coronary artery. RESULTS: RVMIs were detected in sixteen patients, and the IRA in 27 patients was the proximal right coronary artery. The right ventricular Sm was observed to be significantly low in patients with RVMIs and those in group I compared to those without RVMIs and those in groups II and III (10.9 +/- 1.3 vs 14.3 +/- 3.2 cm/s, respectively [p < 0.001]; 11.5 +/- 2.5 vs 15.1 +/- 3 cm/s, respectively; and 14.9 +/- 2.6 cm/s, respectively [p < 0.001]). In the diagnosis of RVMI, the values for sensitivity, specificity, negative predictive value, and positive predictive value of Sm < 12 cm/s were 81%, 82%, 92%, and 62% respectively, and in the diagnosis of the proximal right coronary artery as the IRA, those values were 63%, 88%, 74%, and 81%, respectively. The MPI was high in the same patient groups (0.83 +/- 0.12 vs 0.57 +/- 0.11 in those patients without RVMI, respectively, [p < 0.001]; 0.74 +/- 0.13 vs 0.56 +/- 0.15 in group II and 0.54 +/- 0.07 in group III, respectively [p < 0.001]). The sensitivity, specificity, negative predictive value, and positive predictive value of an MPI of > 0.70 in the diagnosis of RVMI were calculated as 94%, 80%, 97%, and 63%, respectively, and in the diagnosis of the proximal right coronary artery as the IRA, those values were 78%, 91%, 83%, and 88% respectively. CONCLUSIONS: An Sm <12 cm/s and an MPI > 0.70 obtained by TDI may define RVMI concomitant with acute inferior MI, and the IRA.     

Effects of left ventricular systolic dysfunction on left atrial appendage and left atrial functions in patients with chronic nonvalvular atrial fibrillation

OBJECTIVE: It has been claimed that left ventricular (LV) systolic dysfunction impairs left atrial (LA) and left atrial appendage (LAA) functions. In this study, we compared the LA and LAA function parameters in patients with chronic nonvalvular atrial fibrillation (AF) with and without LV systolic dysfunction. METHODS AND RESULTS: The study population consisted of 28 patients with chronic nonvalvularAF. Group I consisted of 12 patients with LV systolic dysfunction (mean age: 61 +/- 14 years; LV ejection fraction: 44 +/- 6%), group II of 16 patients with normal LV systolic function (mean age: 52 +/- 15 years; LV ejection fraction: 65 +/- 3%). LV ejection fraction (EF) was measured by echocardiography utilizing bi-plane area length method.The following LA and LAA transoesophageal echocardiography parameters were obtained: I) LA diameter, 2) LAA ejection velocity, 3) LAA filling velocity, 4) LAA ejection fraction, 5) pulmonary venous (PV) systolic velocity, 6) PV diastolic velocity, 7) PV systolic velocity/diastolic velocity ratio.The left atrium diameter was significantly larger in group I than in group 11 (4.7 +/- 0.7 cm vs. 3.8 +/- 0.6 cm, p < 0.05).The LAA ejection velocity and LAA ejection fraction were significantly lower in group I than in group 11 (22.6 +/- 15.5 cm/s vs 37.5 +/- 11.3 cm/s and 26.9 +/- 20.8% vs. 41.3 +/- 10.9%, p < 0.05 for both comparisons).The PV systolic velocity and PV systolic velocity/diastolic velocity ratio were significantly smaller in group I than in group II (26.2 +/- 14.8 cm/s vs. 51.5 +/- 22 cm/s and 0.7 +/- 0.6 vs. 1.2 +/- 0.5, p < 0.05 for both comparisons).Although decreased LAA filling and PV diastolic velocities were determined in group I, no significant difference existed between groups I and II.Thrombus and/or spontaneous echo contrast (SEC) in the LA and/or LAA were more frequent in group I (75% vs. 18%, p < 0.05). CONCLUSION: These results indicate that LV systolic dysfunction impairs various LA and LA function parameters and is associated with an increased frequency of SEC and/or LA thrombus in patients with chronic nonvalvularAF.