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.     

An uncommon cause of fever in the elderly: late-onset systemic lupus erythematosus

Infections, tumors and multisystem disease are common causes of fever of unknown origin (FUO) in the elderly. Late-onset systemic lupus erythematosus (LO-SLE) is a very rare cause of FUO in elderly patients. Serositis and musculoskeletal manifestations are common, but fever as an initial manifestation in LO-SLE is rare. We present two patients with LO-SLE who manifested fever as an initial symptom. Fever was the only symptom for 2 months in the first case and for 3 months in the second. In conclusion, in geriatric patients who have fever, LO-SLE should be considered in the differential diagnosis.Abbreviations ANA Antinuclear antibody - ESR Erythrocyte sedimentation rate - HBV Hepatitis B - HCV Hepatitis C - CMV Cytomegalovirus - FUO Fever of unknown origin - HIV Human immunodeficiency virus - LO-SLE Late-onset systemic lupus erythematosus - RF Rheumatoid factor     

Clinical, echocardiographic, and hemodynamic characteristics of rheumatic mitral valve stenosis and atrial fibrillation

Chronic atrial fibrillation (AF) is associated with an increased frequency of embolic events and negative impact on cardiac function, and therefore, an increased morbidity and mortality risk in patients with rheumatic mitral valve stenosis (RMS). In the present study, the clinical, 2-D and Doppler echocardiographic, and left-and right-heart hemodynamic data were evaluated for 92 patients (68 women) with RMS and AF and compared with data from 118 patients (88 women) with RMS with sinus rhythm. The clinical, echocardiographic, and hemodynamic evaluations were performed within 1 to 7 days of each other. Patients with AF were older (45.7+/-13.4 vs 38.6+/-12.0 years, p < 0.01) and had a longer symptomatic period (108.2+/-117.9 vs 50.6+/-53.1 months, p < 0.01) compared with those with sinus rhythm. Most of the patients with AF were in NYHA functional capacity 3-4 (74% vs 19%), whereas most of the patients with sinus rhythm were in NYHA functional capacity 2. Patients with AF had a higher mitral valve score based on morphologic features ranging from 4 to 16 depending on the severity of disease (8.3+/-2.1 vs 6.5+/-1.9, p < 0.01) and greater left ventricular end-diastolic diameter (LVEDD) (52.3+/-8.7 vs 47.7+/-8.7 mm, p < 0.02), and end-systolic diameter (LVESD) (34.4+/-7.5 vs 30.9+/-7.5 mm, p < 0.01). Organic tricuspid valve involvement was diagnosed more frequently in patients with AF (61% vs 32%, p < 0.01). Mild mitral regurgitation was also more frequent in patients with AF (71%vs 51%, p < 0.03). The mitral valve area was similar in patients with and without AF (1.30+/-0.39 vs 1.39+/-0.41 cm2, p > 0.05). Mean diastolic mitral valve gradient and pulmonary artery pressure did not differ in patients with and without AF. Right atrial pressures were higher in patients with AF (7.6+/-3.3 vs 6.3+/-1.9 mm Hg, p < 0.02). The authors suggest that (1) AF occurred in older patients, who had a longer disease process and more serious symptoms; (2) hemodynamic derangements (mitral valve gradient, pulmonary artery pressure) did not differ in patients with and without AF; (3) greater mitral valve score, more tricuspid valve involvement, higher LVEDD, which are suggestive of greater rheumatic activity process were more frequently seen in patients with AF than in those without AF. These findings support the opinion that AF is a marker of widespread rheumatic damage in patients with RMS.     

Cytokine Expression Before and After Aspirin Desensitization Therapy in Aspirin-Exacerbated Respiratory Disease

Aspirin exacerbated respiratory disease (AERD) is induced by acetylsalicylic acid (ASA) and/or nonsteroidal antiinflammatory drugs (NSAIDs). Effects of desensitization on many mediators have been examined previously, but few studies addressed the influence of desensitization on T lymphocytes and T lymphocyte-derived cytokines. This study was performed to examine peripheral blood lymphocyte (PBL) cytokine expression in aspirin-sensitive patients who have asthma before and after aspirin desensitization. In this study, the release of interleukin-2 (IL-2), interleukin-4 (IL-4), and interferon-gamma (IFN-γ) by CD4+ T lymphocytes prior to aspirin desensitization were also measured at intracellular levels, and expression of these cytokines after 1 month aspirin desensitization was evaluated. Twelve patients with AERD were included in the study. Two different control groups were formed, one consisted of 15 healthy people and second 12 aspirin tolerant asthmatic (ATA) patients using aspirin. A blood sample was collected prior to desensitization, and the tests were repeated by taking a second blood sample 1 month after the 4-day desensitization treatment. The proportion of lymphocytes secreting IFN-γ in the study group was 15.61?±?4.40 % before desensitization and 15.08?±?5.89 % after desensitization. The rate of IFN-γ secreting CD4+ T lymphocytes was 20.51?±?4.41 % in the normal control group and 16.07?±?5.7 % in the ATA group (p?=?0.021). The ratio of CD4+ T lymphocyte secreting IFN-γ was reduced in patients with AERD before desensitization compared to normal control group (p?=?0.040). The levels of IL-2, IL-4, and the subsets of lymphocyte were not different before and after desensitization compared to control groups.     

Early osteoblastic activity on TiO2 thin films decorated with flower-like hierarchical Au structures

Titanium alloys are the most commonly used dental and orthopedic implant materials due to their proven biocompatibility and mechanical properties. The native oxide layer (TiO₂ layer) formed on such Ti-based implants acts as the self-protecting layer against possible ion release. Increasing the oxide layer thickness further on such TiO₂ implants even opens the triggering of the osseointegration process if the oxide layer is having a certain degree of roughness, preferably higher. This work reports a novel photocatalytic patterning of sputter deposited TiO₂ layers with flower-like Au structures to enhance the early osteoblastic activity. The prepared hierarchical Au structures, composed of micro- and nanoscale features on the top, lead to improved number of filopodia formation. This suggest that proposed Au–TiO₂ surface may foster the cell attachment and as well as cell proliferation.

Flower-like hierarchical Au structures, composed of micro- and nanoscale features, lead to higher number of filopodia formation on TiO₂ thin films.     

Intrarenal Surgery vs Percutaneous Nephrolithotomy in the Management of Lower Pole Stones Greater than 2 cm

Purpose

To compare the efficacy of RIRS and PNL in lower pole stones ≥2 cm. Materials and and Methods: A total of 109 patients who underwent PNL or RIRS for solitary lower pole stone between April 2009 and December 2012, were retrospectively analyzed. Lower pole stone was diagnosed with CT scan. Stone size was assessed as the longest axis of the stone. All patients were informed about the advantages, disadvantages and probable complications of both PNL and RIRS before the selection of the procedure. Patients decided the surgery type by themselves without being under any influences and written informed consent was obtained from all patients prior to the surgery. Patients were divided into two groups according to the patients’ preference of surgery type. Group 1 consisted of 77 patients who underwent PNL and Group 2 consisted of 32 patients treated with RIRS. Stone free statuses, postoperative complications, operative time and hospitalization time were compared in both groups.

Results

There was no statistical significance between the two groups in mean age, stone size, stone laterality, mean follow-up periods and mean operative times. In PNL group, stone-free rate was 96.1% at first session and 100% after the additional procedure. In Group 2, stone-free rate was 90.6% at the first procedure and 100% after the additional procedure. The final stone-free rates and operative times were similar in both groups.

Conclusions

RIRS should be an effective treatment alternative to PNL in lower pole stones larger than 2 cm, especially in selected patients.     

The comparison of high and standard definition computed tomography techniques regarding coronary artery imaging

ObjectiveThe aim was to compare coronary high-definition CT (HDCT) with standard-definition CT (SDCT) angiography as to radiation dose, image quality and accuracy.ResultsThe intraclass correlation coefficient (ICC) of measured vessel attenuation values in SDCT between the two radiologists was exceedingly good. The ICC was higher in HDCT. The radiation dose of HDCT was higher than that of SDCT. The mean tube current was 180 (mA) in HDCT and 147(mA) in SDCT with the same tube voltage (kVp). There was no significant difference between image quality.ConclusionHDCT has a higher radiation dose but has much more atenuation and the spatial resolution which improve measurement accuracy for imaging coronary arteries.