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.     

Effect of Weight Loss Induced by Intragastric Balloon Therapy on Cardiac Function in Morbidly Obese Individuals: A Pilot Study

Objective

The aim of the study was to investigate the effect of intragastric balloon therapy on left ventricular function and left ventricular mass in a cohort of morbidly obese patients.

Subjects and Methods

A prospective trial was performed in a cohort of 17 class II and class III morbidly obese individuals. The intragastric balloon was retained in the stomach for an average of 6 months. Conventional and tissue Doppler echocardiography were performed in all patients before and after the procedure.

Results

The mean age of the study participants was 36 ± 10 years (range: 18–55). The mean body mass index was significantly decreased following the intragastric balloon insertion procedure (44 ± 8 vs. 38 ± 5, p < 0.001). The left ventricular mass index and left atrial volume index were significantly decreased following the procedure (112 ± 21 vs. 93 ± 17, p = 0.001 and 20 ± 6 vs. 14 ± 5, p = 0.02, respectfully). In addition, the ratio of mitral peak early diastolic velocity to tissue Doppler-derived peak diastolic velocity and tissue Doppler echocardiography-derived left ventricular myocardial performance index were decreased significantly following the procedure (9.5 ± 1.9 vs. 7.7 ± 1.5, p = 0.002 and 0.57 ± 0.11 vs. 0.46 ± 0.06, p = 0.001, respectively).

Conclusions

Intragastric balloon therapy resulted in significant weight reduction in morbidly obese patients. This weight reduction was associated with improved left ventricular function.Key Words: Obesity, Intragastric balloon therapy, Echocardiography, Tissue Doppler     

Altered anti-oxidant status and increased lipid peroxidation in marasmic children

BACKGROUND: Protein energy malnutrition (PEM) is a common pediatric health problem in developing countries. Although the clinical features of PEM are well known, its pathophysiology is still unclear. Free radicals have been implicated in pathogenesis of PEM. In the present study, oxidant/anti-oxidant status in marasmus was investigated. METHODS: Red cell glutathione, glutathione peroxidase and superoxide dismutase and their related cofactors, serum selenium and copper, were studied in marasmic and control children. Serum lipid peroxidation was also evaluated to assess oxidative stress. RESULTS: The red cell glutathione levels and glutathione peroxidase activities were found to be significantly lower in the marasmic children than in the controls. Red cell superoxide dismutase (SOD) activity was not different between two groups. Serum selenium and copper concentrations were significantly lower in the marasmic children than in the control subjects. The malondialdehyde concentration, which is an index of lipid peroxidation, was significantly higher in the marasmic group compared with the controls. CONCLUSION: The anti-oxidant defense system was affected in marasmic children. Reduced anti-oxidant status and increased oxidative stress occurs in marasmic children.     

Radiation exposure to premature infants in a neonatal intensive care unit in Turkey

OBJECTIVE: The aim of this work was to determine the radiation dose received by infants from radiographic exposure and the contribution from scatter radiation due to radiographic exposure of other infants in the same room. MATERIALS AND METHODS: We retrospectively evaluated the entrance skin doses (ESDs) and effective doses of 23 infants with a gestational age as low as 28 weeks. ESDs were determined from tube output measurements (ESD(TO)) (n = 23) and from the use of thermoluminescent dosimetry (ESD(TLD)) (n = 16). Scattered radiation was evaluated using a 5 cm Perspex phantom. Effective doses were estimated from ESD(TO) by Monte Carlo computed software and radiation risks were estimated from the effective dose. ESD(TO) and ESD(TLD) were correlated using linear regression analysis. RESULTS: The mean ESD(TO) for the chest and abdomen were 67 microGy and 65 microGy per procedure, respectively. The mean ESD(TLD) per radiograph was 70 microGy. The measured scattered radiation range at a 2 m distance from the neonatal intensive care unit (NICU) was (11-17 microGy) per radiograph. Mean effective doses were 16 and 27 microSv per procedure for the chest and abdomen, respectively. ESD(TLD) was well correlated with ESD(TO) obtained from the total chest and abdomen radiographs for each infant (R(2) = 0.86). The radiation risks for childhood cancer estimated from the effective dose were 0.4 x 10(-6) to 2 x 10(-6) and 0.6 x 10(-6) to 2.9 x 10(-6) for chest and abdomen radiographs, respectively. CONCLUSION: The results of our study show that neonates received acceptable doses from common radiological examinations. Although the contribution of scatter radiation to the neonatal dose is low, considering the sensitivity of the neonates to radiation, further protective action was performed by increasing the distance of the infants from each other.     

Recurrent liver hydatid disease: when does it become symptomatic and how does one diagnose it?

BackgroundEchinococcosis is a zoonotic disease that mainly occurs in sheep-grazing areas. Recurrence of the disease and its diagnosis are relatively new areas of investigation due to the limited number of cases. The aim of this study was to evaluate the diagnosis of the symptomatic recurrent liver hydatid disease and the efficacy of abdominal ultrasonography (US).Materials and MethodsBetween 1988 and 2006, 412 patients with hydatid cyst of the liver were operated at Erciyes University Medical Faculty. We have considered a growing cyst at the original operative site or at the neighboring hepatic tissue as recurrence and investigated 38 of them for the recurrence of the disease (9.2%).ResultsThe recurrence usually occurred after 2 years. The majority of the cases were Types 2 and 3 (24 cases; 8 were Type 4 and 6 were Type 1) according to Gharbi classification. In 35 patients with recurrent disease approved after surgical exploration, US was successful in preoperative diagnosis (100%). Overall, the recurrence was demonstrated correctly by means of US in 35 patients (92.1%), and 23 of 26 patients (88.4%) were correctly diagnosed with the use of computed tomography. In our study, in the first 2 years after the operation, the success rate of US examination was 72.7%. The success rate of US rose up to 100% when the frequency of recurrence is highest.ConclusionBeyond 2 years after surgery, US examination alone might be enough for the diagnosis of symptomatic recurrent liver hydatid disease in patients with the suspicion of recurrence. Postoperative early US profile and annual US examination must be performed for at least 5 years to prevent misinterpretation in doubtful cases.