The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey

The aim of this study was to determine the Mediterranean fever (MEFV) gene mutations and their clinical correlations in children with familial Mediterranean fever (FMF) in southeast Turkey. Clinical and laboratory characteristics of 147 (65 males, 82 females) consecutive children with FMF having a positive MEFV gene mutation were prospectively investigated. Patients with negative MEFV gene mutations or atypical FMF presentations and those from other regions of the country were excluded. Clinical manifestations and disease severity scores were recorded. The six most frequent MEFV mutations including M694V, V726A, R726H, P369S, E148Q and P369S were investigated by a reverse hybridization test method. The median age of study group was 9.0 years, median age at diagnosis was 7.8 years, median age at disease onset was 5.0 years, and median follow-up duration was 4.0 years. A positive family history of FMF and parent-to-offspring transmission was found in 58.5 and 42.2 % of families, respectively. The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients. The M694V subgroup had higher mean disease severity score and longer attack duration compared with E148Q and other mutations subgroups (p < 0.05). Two patients with amyloidosis had the M694V homozygote genotype. In conclusion contrast to other regions and many other ethnicities of the world, the most frequent MEFV gene mutation was E148Q in southeast Turkey. The M694V mutation frequency was lower, and disease severity was relatively mild in FMF children of this region.     

Serum galectin-3 level in systemic sclerosis

Systemic sclerosis (SSc) is an autoimmune disease of unknown etiology characterized by progressive fibrosis. Activated fibroblasts are mainly responsible for fibrosis in SSc. Galectin-3, a β-galactoside-binding lectin, plays many important regulatory roles in both physiological and pathological processes including proliferation, apoptosis, inflammation, and fibrosis. The purpose of this study was to assess the serum galectin-3 levels in patients with SSc. Thirty-seven SSc patients, 23 systemic lupus erythematosus (SLE) patients (serving as patient control group), and 28 healthy volunteers were enrolled in this study. Disease activity and severity scores were detected with Valentini disease activity index and Medsger disease severity scale in the SSc group and SLE disease activity index and Systemic Lupus International Collaborating Clinics/American College of Rheumatology damage index in the SLE group. The serum levels of galectin-3, vascular endothelial growth factor, transforming growth factor-β, and interleukin-6 were determined. Compared to the control group, the galectin-3 levels were higher in the SSc and SLE groups. The galectin-3 levels were not correlated with the disease activity and severity indexes in both patient groups. But, the serum galectin-3 levels were higher in the active SSc and SLE subgroups than in the inactive SSc (4.6?±?5.8 vs. 1.3?±?1.1 ng/ml, p?=?0.015) and SLE (17.4?±?11.3 vs. 6.5?±?8.9 ng/ml, p?=?0.019) subgroups. These results suggest that galectin-3, which is associated with fibrosis and inflammation by previous studies, may be a prominent biomarker of disease activity in SSc.     

Production of chlorine-containing functional group doped graphene powders using Yucel's method as anode materials for Li-ion batteries

In this study, the one-step electrochemical preparation of chlorine doped and chlorine-oxygen containing functional group doped graphene-based powders was carried out by Yucel''s method, with the resultant materials used as anode materials for lithium (Li)-ion batteries. Cl atoms and ClO_x (x = 2, 3 or 4) groups, confirmed by X-ray photoelectron spectroscopy analysis, were covalently doped into the graphene powder network to increase the defect density in the graphene framework and improve the electrochemical performance of Li-ion batteries. The microscopic properties of the Cl-doped graphene powder were investigated by scanning electron microscopy and transmission electron microscopy (TEM) analyses. TEM analysis showed that the one-layer thickness of the graphene was approximately 0.33 nm. Raman spectroscopy analysis was carried out to determine the defect density of the graphene structures. The G peak obtained in the Raman spectra is related to the formation of sp² hybridized carbons in the graphene-based powders. The 2D peak seen in the spectra shows that the synthesized graphene-based powders have optically transparent structures. In addition, the number of sp² hybridized carbon rings was calculated to be 22, 19, and 38 for the Cl-GP1, Cl-GP2, and Cl-GOP samples, respectively. As a result of the charge/discharge tests of the electrodes as anodes in Li-ion batteries, Cl-GP2 exhibits the best electrochemical performance of 493 mA h g⁻¹ at a charge/discharge current density of 50 mA g⁻¹.

In this study, the one-step electrochemical preparation of chlorine doped and chlorine-oxygen containing functional group doped graphene-based powders was carried out by Yucel''s method, with the resultant materials used as anode materials for lithium (Li)-ion batteries.     

Providing insights into atherosclerosis: A case of multivessel coronary artery disease with an anomalous straightforward vessel spared from atherosclerosis

Atherosclerotic plaques tend to involve arterial localizations in which blood flow is not laminar due to arterial bends and bifurcations. A 49-year-old man was admitted to hospital with breathlessness and was subsequently diagnosed with left ventricular failure. Coronary angiography revealed three-vessel coronary artery disease and an anomalous extra left anterior descending artery taking off from the right sinus of Valsalva and spared from atherosclerosis. The absence of side branches and the relative lack of bends in arterial geometry were considered to be the cause of resistance to atherosclerosis. The present case identifies local flow conditions as an important factor determining the genesis of atherosclerosis in arterial segments.     

Effect of cervical mucus aspiration before intrauterine insemination

Objective

To determine whether cervical mucus aspiration before intrauterine insemination (IUI) has any effect on clinical pregnancy rates.

Method

The outcomes of 186 IUI cycles in 95 consecutive patients in whom mucus was aspired prior to IUI were compared retrospectively with those of 1057 IUI cycles in 505 women.

Results

The pregnancy rate was 15.1% (28 pregnancies for 186 cycles) in the cervical mucus aspiration group and 9.9% (105 pregnancies for 1057 cycles) in the control group (P = 0.05). Mucus aspiration led to significantly increased pregnancy rates for women with unexplained infertility (24% in the aspiration group vs 9.5% in the control group; P = 0.04).

Conclusion

Cervical mucus aspiration before IUI might improve clinical pregnancy rates by yet-to-be-defined mechanisms.     

A morphometric study of the inferior orbital fissure using three‐dimensional anatomical landmarks: Application to orbital surgery

The inferior orbital fissure (IOF) is an important structure during orbital surgery, however, neither its anatomical features nor the procedures necessary to expose the IOF have been examined in detail. A morphometric analysis of the IOF was performed on 232 orbits using computer software. The longest and shortest borders of the IOF were 18.2 ± 4.9 and 1.9 ± 1.3 mm, respectively. The outer and the inner angles were 138.9 ± 32.7° and 38.4 ± 24.7°, respectively. The perimeter of the IOF was 50.6 ± 13.5 mm and its area was 61.3 ± 39.1 mm². Eight types of IOF were observed. Type 1 IOF was observed in 42.2% and the Type 2 IOF was identified in 15.9%. A statistically significant relation was found between the longest edge and area and the widest edge and area of the IOF. The findings of our study suggest that the removal of the lateral wall should begin inferiorly, just lateral to the IOF and extended superolaterally. These data may be useful during surgical approaches to the orbit. Clin. Anat. 22:649–654, 2009. © 2009 Wiley‐Liss, Inc.     

A New,T-Shaped Adaptor for Easy,Quick and Efficient Fat Harvesting During Liposuction

Although there is a controversy about success and failure of autologous fat tissue transfers, it is a widely accepted method for soft tissue augmentation and is performed by many plastic surgeons as well as dermatologists all around the world. Its advantages are that it does not cause reactions, its absorption rates have been reduced by increased knowledge, experience, and techniques, it can yield good, long-term results, and there are now preservation techniques that allow reinjections when necessary. However, no single ideal technique has been determined. In this paper a new, simple, T-shaped adaptor for easy, quick, and efficient fat harvesting during liposuction is described. This study not only describes the clinical use of the adaptor, but also histologically examines its effects on fat cells under various vacuum pressures (-250 mmHg, -500 mmHg, -700 mmHg). The study shows that the cell structure of fat tissue harvested under medium power (with vacuum pressures of -250 mmHg and -500 mmHg) is not disrupted, while that of tissue harvested with a vacuum pressure of -700 mmHg was traumatized and occasional cell wall fragmentation occurred. In conclusion, it is shown that the T-shaped adaptor allows harvesting of the desired amount of fat tissue without causing trauma to fat cells when it is used with medium-power suction.     

Dopamine transporter-dependent induction of C-Fos in HEK cells

The psychostimulants cocaine and amphetamine increase expression of the immediate early gene (IEG) c-fos indirectly, via D1 dopamine receptor activation. To determine whether dopamine transporter substrates and inhibitors can affect c-Fos expression directly, we investigated their effects on c-Fos protein and c-fos mRNA in HEK-293 (HEK) cells transfected with the human dopamine transporter (hDAT). In untransfected HEK cells, methylphenidate and cocaine produced a small but statistically significant increase in c-Fos, whereas dopamine and amphetamine did not. In hDAT cells, DAT substrates (dopamine, amphetamine) increased c-Fos immunoreactivity 6- and 3-fold (respectively). The DAT inhibitors cocaine, methylphenidate, and bupropion also increased c-Fos approximately 3-fold in hDAT cells. If coincubated with dopamine, the inhibitors attenuated dopamine-induced c-Fos in hDAT cells. The magnitude of c-fos mRNA induction by substrates and inhibitors paralleled induction of c-Fos protein immunoreactivity. The results indicate that substrates or inhibitors of the DAT can trigger induction of IEG expression in the absence of D1 dopamine receptor. For substrates, IEG induction is DAT-dependent, but for certain DAT inhibitors the cellular response can be elicited in the absence of the DAT in HEK cells. Oxidative stress may partly, but not fully, account for the DA-induced c-Fos induction as an inhibitor of oxidative stress Trolox C, attenuated DA-induced c-Fos induction. Protein kinase C (PKC) may also partially account for c-Fos induction as a specific inhibitor of PKC Bisindolylmaleimide I (BIS) attenuated DA-induced c-Fos by 50%. DAT substrate and inhibitor effects on IEGs, other fos-related antigens, and possible mechanisms that contribute to c-Fos induction warrant investigation in presynaptic neurons as a potential contribution to the long-term effects of psychostimulants.     

Lymphoepithelioma-Like Carcinoma of the Urinary Bladder: A Case Report and Discussion of Differential Diagnosis

Lymphoepithelioma-like carcinoma (LELC) of the urinary bladder is very rare. It is mandatory to make differential diagnosis among lymphoma, chronic cystitis and LELC because of different therapeutic approach. A bladder tumor was found in a 90-year-old patient suffering from hematuria. After transurethral resection, undifferentiated tumor with prominent lymphoid infiltration was seen on light microscopy. Immunohistochemical examination demonstrated positive staining of tumor cells with cytokeratin (CK), epithelial membrane antigen and CK-20. We presented the case because of its rarity and related literature was reviewed.     

Hip arthroplasty for ochronosis

Alkaptonuria is a metabolic disorder in which homogentisic acid oxidase is absent. Therefore, homogentisic acid accumulates in cartilage and connective tissues. We can diagnose ochronotic arthropathy, a manifestation of long standing alkaptonuria, through careful radiological, physical, and laboratory examination. In this report, we describe 4 cases of ochronotic arthropathy to which we applied cementless total hip prosthesis due to severe hip involvement.