The study of genetic predisposition on periodontitis and peri-implantitis.

Background: Peri-implant mucositis and peri-implantitis cases increase in number with the increase of implant applications. Peri-implant mucositis and peri-implantitis are defined as inflammatory diseases with inflammation and loss in soft and hard tissue, similar to the other periodontal diseases. As observed in many diseases, genetic predisposition factors also affect the progress of periodontitis and peri-implantitis. Aim: This study examines if there is any solid genetic predisposition causing periodontitis and peri-implantitis formation in Turkish patients. Patients & Methods: In order to evaluate single nucleotide polymorphism (SNP), Interleukin-8 (IL-8) and N-formyl-L-methionyl-L-leucyl-phenylalanine (fMLP), playing a role in the chemotaxis of neutrophils, and Fc Gamma Receptor IIA (FcγRIIA) and Fc Gamma Receptor IIIA (FcγRIIIA), playing a role in the antigen-antibody complexes and phagocytosis, were selected. Thirty-two Turkish non-smoking subjects, having periodontitis, thirty-three Turkish non-smoking subjects, having peri-implantitis and thirty-three Turkish non-smoking healthy subjects were selected. In total 98 adults participated in our study. Collected saliva samples from the participants were used for DNA isolation. SNPs were determined in these subgroups of the study by means of genotype-specific polymerase chain reactions. Results: When IL-8 A-251T, FcγRIIa -H131 and FcγRIIIa -V158 polymorphism were evaluated, no significant difference was found between periodontitis, peri-implantitis and healthy groups. However, this study observed that fMLP Receptor (FPR1) gene polymorphism creates a significant difference in individuals at higher risk of periodontitis or peri-implantitis. Conclusion: Results show that individuals with the G genotype have a higher risk of periodontitis, while individuals with G / C genotype have higher risk of peri-implantitis.

Clinical and demographic features of hidradenitis suppurativa: a multicentre study of 1221 patients with an analysis of risk factors associated with disease severity.

BACKGROUND: Hidradenitis suppurativa (HS) is a chronic, relapsing and debilitating inflammatory disease associated with profound morbidity. AIM: In this multicentre study, we investigated the demographic and clinical features of HS, and determined risk factors of disease severity. METHODS: In total, 1221 patients diagnosed with HS from 29 centres were enrolled, and the medical records of each patient were reviewed. RESULTS: The mean age of disease onset was 26.2 ± 10.4 years, and almost 70% (n = 849) of patients were current or former smokers. Mean disease duration was 8.9 ± 8.4 years with a delay in diagnosis of 5.8 ± 3.91 years. Just over a fifth (21%; n = 256) of patients had a family history of HS. The axillary, genital and neck regions were more frequently affected in men than in women, and the inframammary region was more frequently affected in women than in men (P < 0.05 for all). Acne (40.8%), pilonidal sinus (23.6%) and diabetes mellitus (12.6%) were the most prevalent associated diseases. Of the various therapies used, antibiotics (76.4%) were most common followed by retinoids (41.7%), surgical interventions (32.0%) and biologic agents (15.4%). Logistic regression analysis revealed that the most important determinants of disease severity were male sex (OR = 2.21) and involvement of the genitals (OR = 3.39) and inguinal region (OR = 2.25). More severe disease was associated with comorbidity, longer disease duration, longer diagnosis delay and a higher number of smoking pack-years. CONCLUSIONS: Our nationwide cohort study found demographic and clinical variation in HS, which may help broaden the understanding of HS and factors associated with disease severity.

A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD.

A Thanatophoric dysplasia, is a severe congenital anomaly which mostly causes stillbirth or death of the affected baby within hours due to respiratory insufficiency. The diagnosis of TD is typically suspected on ultrasound during the second trimester of pregnancy, when severe shortening of the long bones, frontal bossing, flattened vertebrae, and short ribs that result in a narrow thorax and bell-shaped abdomen, can be seen. Here, we present a case with prenatal ultrasonographic findings suggestive of TD, and highlight the patient's postnatal dysmorphic features and typical radiographic findings. The definitive diagnosis of TD type I (TDI) was made postnatally, when molecular genetic analysis revealed the previously described p.R248C mutation in FGFR3. This case is reported due to its relative long life span and the definitive molecular diagnosis that could be made during hospitalization.

Impact of valve surgery on serum osteopontin levels in patients with mitral regurgitation.

OBJECTIVE: Osteopontin (OPN), a sialoprotein present within atherosclerotic lesions, especially in calcified plaques, is linked to the progression of coronary artery disease and heart failure. We assessed the impact of valve surgery on serum OPN and left ventricular (LV) function in patients with mitral regurgitation (MR). METHODS: Thirty-two patients with severe MR scheduled for surgery were included in the study. Echocardiography markers were assessed preoperatively and at 3 months following the surgery and matched with the serum OPN levels. RESULTS: Valve surgery was associated with a reduction of the ejection fraction (EF) from 55.2 ± 6.3 to 48.8 ± 7.1% after surgery, p < 0.001. Following surgery, the OPN level was significantly higher than preoperatively (mean 245, range 36-2,284 ng/ml vs. 76, 6-486 ng/ml, p = 0.007). Preoperative OPN exhibited a slight negative correlation with the EF (r = -0.35, p = 0.04), and a moderate correlation with vena contracta (r = -0.38, p = 0.02). There were no other meaningful correlations between conventional echocardiographic parameters and OPN. CONCLUSION: Following valve surgery due to severe MR, patients exhibited a decrease in EF and an increase in OPN levels. The assessment of preoperative OPN failed to strongly predict probable LV dysfunction.

Evaluation of adiponectin and lipoprotein(a) levels in cardiac syndrome X.

AIMS: Low adiponectin and high lipoprotein(a) [Lp(a)] levels are associated with endothelial dysfunction, atherosclerosis, and coronary artery disease. Cardiac syndrome X (CSX) is characterized by anginal symptoms, positive stress test, and documentation of normal epicardial coronary arteries with angiography. In this study we aimed to investigate the relationship between CSX and circulating levels of adiponectin and Lp(a). PATIENTS AND METHODS: We enrolled 53 female patients with CSX and 33 patients as the control group. The diagnosis of CSX was made according to presence of angina, findings suggestive of ischemia during stress electrocardiography or myocardial perfusion scintigraphy, and documentation of normal coronary arteries in coronary angiography. The control group consisted of patients with atypical angina and normal stress electrocardiography test results. Both groups were matched in terms of hypertension, diabetes mellitus, and metabolic syndrome. RESULTS: Adiponectin levels were significantly decreased in patients with CSX (4.57 µg/ml vs. 13.18 µg/ml; p=0.001); however, Lp(a) levels were significantly increased (36.30 mg/dl vs. 7.24 mg/dl; p < 0.001). Low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides (TG) concentrations did not differ between the case group and the control group (p=0.14, p=0.62, p=0.64, respectively). There was no significant difference between groups in terms of age, body mass index, waist circumference hypertension, hyperlipidemia, diabetes mellitus, or metabolic syndrome. In multivariate analysis, Lp(a) and adiponectin were found to be independent predictors of CSX. An Lp(a) level of > 21 mg/dl had 84 % sensitivity and 96 % specificity {area under the curve (AUC)= 0.922, p < 0.0001, 95 % CI [0.842-0.970]} and an adiponectin level of ≤ 5.18 µg/ml also had 58.7 % sensitivity and 82.1 % specificity (AUC=0.726, p=0.0003, 95 % CI [0.609-0.823]) for detecting CSX. CONCLUSION: We detected low adiponectin and high Lp(a) levels in patients with CSX and these findings may be related to the microvascular injury in CSX.

Coronary vessel diameters during and after primary percutaneous coronary artery intervention.

BACKGROUND: Primary percutaneous coronary intervention (P-PCI) is the gold standard treatment for acute coronary syndromes. Plasma levels of catecholamines and other vasopressors are elevated during acute myocardial infarction (AMI) and coronary vasoconstriction is frequent. We aimed to compare the reference vessel diameter (RVD) of the infarct-related artery (IRA) during primary PCI and after an average of 3 days. METHODS: Coronary angiography (CAG) was performed on 58 patients with acute ST-segment elevation myocardial infarction (STEMI) and TIMI 3 flow after P-PCI (43 men, 15 women; mean age, 55.5 ± 10 years). TIMI 3 flow was achieved either by simple balloon dilatation and/or thrombus aspiration. Lesion length, RVD, minimal lumen diameter (MLD), mean vessel diameter (meanD), and area of stenosis were compared during P-PCI and follow-up CAG. RESULTS: RVD, MLD, and meanD values were significantly higher during the follow-up CAG than after P-PCI (RVD 2.7 ± 0.7 mm vs. 2.9 ± 0.7 mm, p = 0.001; MLD 1.5 ± 0.5 mm vs. 1.7 ± 0.4 mm, p = 0.002; meanD 2.2 ± 0.5 mm vs. 2.4 ± 0.5 mm, p = 0.001). Area of stenosis values were significantly lower during the follow-up CAG than after primary PCI (69.5 ± 16.5 % vs. 62.1 ± 15 %, p = 0.001). Lesion lengths were not statistically significant during the follow-up CAG and primary PCI (lesion length 24.0 ± 10.8 mm vs. 22.1 ± 8.8 mm, p > 0.05). CONCLUSION: This study showed that RVD was higher at the follow-up CAG a few days after AMI in patients who had TIMI 3 flow after P-PCI with simple balloon dilatation and/or thrombus aspiration. A delay of a few days for stent implantation in P-PCI allows for larger-diameter stent use and may help to reduce stent thrombosis and restenosis rates.

TLR2 and TLR4 gene polymorphisms in Turkish vitiligo patients.

BACKGROUND: It has been shown that toll like receptors (TLR) may be involved in some inflammatory skin diseases such as psoriasis, atopic dermatitis. Vitiligo is an acquired pigmentation disorder of unknown aetiology. A number of genes playing a role in inflammatory response may be associated with development of vitiligo. OBJECTIVES: To investigate whether there is an association between TLR 2 and TLR4 gene polymorphisms in Turkish patients with vitiligo. METHODS: A total of 100 patients (59 women and 41 men) with vitiligo and 100 controls (58 women and 42 men) were included in the study. The TLR2 gene Arg753Gln and TLR4 gene Asp299Gly and Thr399Ile polymorphisms were genotyped by using polymerase chain reaction and restriction fragment length polymorphism method. The data were analysed by Mann-Whitney U-test, chi-squared test and logistic regression analysis. RESULTS: Significant difference was found in the distribution of TLR2 Arg753Gln genotype and in the allele frequencies TLR2 753Gln between vitiligo patients and healthy subjects (P < 0.05). The distribution of TLR4 Asp299Gly genotype was significantly higher in the patient group (10%) than in the control group (%2) (P < 0.05). The TLR4 Thr399Ile distribution did not show any difference in both vitiligo and healthy groups. CONCLUSIONS: Our findings suggest that Toll-like receptor 2 gene Arg753Gln and Toll-like receptor 4 Asp299Gly gene polymorphisms are associated with vitiligo susceptibility in Turkish patients.

Transcatheter mitral paravalvular closure: a single centre experience with techniques and outcomes.

BACKGROUND: In patients with symptomatic mitral PVL, successful transcatheter reduction of the PVL to less than mild is associated with significant improvement in short- and midterm survival. OBJECTIVES: In this study, we present our single-centre, same operators' experience on percutaneous paravalvular leak closure with techniques and outcomes. METHODS: In this retrospective observational designed study, we retrieved hospital records of patients with a surgical history of mechanical or biological prosthetic valve replacement and who subsequently underwent transcatheter mitral paravalvular leak closure (TMPLC). All procedures were performed by the same operators. RESULTS: A total of 45 patients with 58 PVDs underwent TMPLC using 60 devices. All patients had moderate or severe mitral paravalvular regurgitation associated with symptomatic HF (15.6%), clinically significant haemolytic anaemia (57.8%) or both (26.7%). The technical success rate was 91.4%, with 53 defects successfully occluded. The clinical success rate was 75.6%. Among the clinical success parameters, the preprocedural median ejection fraction increased from 45% (35-55) to 50% (40-55) (p = .04). Mitral gradients decreased from max/mean 18/8 mmHg to max/mean 16/7 mmHg; p = .02). Haemoglobin levels increased from 9.9 (8.5-11.1) to 11.1 (3-13); p = .003. LDH levels decreased from 875 (556-1125) to 435 (314-579); p: <.001. All-cause 30-day and in-hospital mortality rates were the same at 8.9%. CONCLUSION: This single-centre study with a limited number of patients confirmed that TMPLC is a safe and effective procedure to improve symptoms and severity of PVL.

Medial olivocochlear suppression in musicians versus non-musicians.

The medial olivocochlear efferent (MOCE) branch synapses with outer hair cells (OHCs), and the efferent pathway can be activated via a contralateral acoustic stimulus (CAS). The activation of MOCE can change OHC motile responses and convert signals that are capable of controlling the sensitivity of the peripheral hearing system in a frequency-specific manner. The aim of this study was to examine the MOCE system activity in professional musicians using transient evoked otoacoustic emission test and CAS. Musician group showed stronger suppression in all frequency bands in the presence of CAS.

Combined liver-kidney transplantation and follow-up in primary hyperoxaluria treatment: report of three cases.

INTRODUCTION: Primary hyperoxaluria type-1 (PH1) is an autosomal recessive disorder caused by impaired activity of the hepatic peroxisomal alanine-glyoxilate aminotransferase, which leads to end-stage renal disease (ESRD) and requires combined liver-kidney transplantation (CLKT). Herein, we have reported 3 children diagnosed with PH1 who received CLKT. CASE 1: A 4.5-year-old boy with an elder brother diagnosed with PH1 was diagnosed during family screening when the sonography showed multiple calculi. Within 5 years he experienced flank pain, hematuria attacks, and anuric phases due to obstruction and received hemodialysis (HD) when ESRD appeared. CLKT was performed from his full-match sister at the age of 9.5. He is doing well at 5.5 years. CASE 2: A 7-year-old boy was admitted with polyuria, polydypsia, and stomach pain with renal stones on sonography. PD was instituted when serum creatinine and BUN levels were measured as high values. At the age of 10, CKLT was performed from his mother. His liver and renal function tests are well at 14 months after CKLT. CASE 3: A 2.5-year-old girl had attacks of dark urine without any pain; renal stones were imaged on sonography. She was diagnosed with PH1 and operated on several times due to obstruction. She received peritoneal dialysis and a cadaveric CLKT was performed when she was 9 years old. At the age of 16, she experienced chronic allograft nephropathy requiring HD and subsequent cadaveric donor renal transplantation at 1.5 years after initiation of HD. CONCLUSION: Herein, we have presented the favorable clinical outcomes of patients with CKLT to indicate the validity of this treatment choice for PH1.

Effect of obesity and overweight on cyclosporine blood levels and renal functions in renal adolescent recipients.

INTRODUCTION: The impact of obesity, a frequent problem after renal transplantation, which has been associated with poor graft and patient survival, was evaluated on renal function and cyclosporine (CsA) blood levels. PATIENTS: We retrospectively evaluated the data of adolescent renal recipients between 1994 and 2004. Patients with serum creatinine > or = 2.5 mg/dL were excluded. We grouped the data with regard to the body mass index (BMI) percentiles as group I (BMI > 95th), group II (BMI < 95th), group III (BMI > 85th), group IV (BMI < 85th). We compared the clinical and laboratory findings between groups I and II and between groups III and IV. RESULTS: We evaluated 778 visits of 27 patients (M/F: 19/8). There were 30 visits in the obesity period (group I) and 72 visits after the overweight periods were added (group III). Serum creatinine levels were significantly higher and glomerular filtration rate levels significantly lower among obese and/or overweight than lean periods (P < .05). Proteinuria levels were similar in groups I and II, but significantly higher in group III than group IV (P = .356 and .000, respectively). CsA(mg/bw), CsA(mg/bmi), and CsA(mg/bsa) levels were significantly lower in group I than group II and in group III than group IV (P < .05), while C0 and C2 levels were similar (P > .05). CONCLUSION: Weight gain is associated with worse renal functions but not greater proteinuria in our patients. Smaller CsA doses were sufficient to maintain C0 and C2 levels similar to the lean patients, results that were parallel to those of adult renal recipients.

Correlation of C0 and C2 levels with lipid profiles in adolescent renal transplant recipients in the early and late posttransplant periods.

Hyperlipidemia is a frequent complication after renal transplantation. Cyclosporine therapy is an important cause of hyperlipidemia. It is still controversial whether C0 or C2 is the most effective way to monitor blood cyclosporine concentrations to guide dosages. We sought to evaluate the relationship of C0 or C2 to serum lipid levels in the early and late posttransplant periods among adolescent renal transplant recipients. The posttransplantation charts of 26 adolescent renal transplant recipients were evaluated retrospectively. Serum C0 and C2 levels and serum lipid (triglyceride and total cholesterol) levels were analyzed both in the early (first 6 months) and the late (thereafter) posttransplant periods. Hypertriglyceridemia and hypercholesterolemia were defined as levels above the 95th percentile adjusted for age and gender. To evaluate the influence of C0 and C2 levels on serum lipids, we excluded one patient with familial hyperlipidemia. In addition, serum lipid levels of the remaining 25 patients were excluded in acute rejection periods and when the serum creatinine levels were above 2.5 mg/dL, representing chronic allograft nephropathy. Concurrently recorded serum C0 and C2 levels were present for only 21 patients. Overall, we evaluated the records of 245 visits for these 21 patients. The incidence of hyperlipidemia decreased in the late posttransplant period, being significant for hypercholesterolemia. C2 had strong negative correlation with serum lipids; it was significant for total cholesterol in the early posttransplant period (r=-0.542, P=.005), but weaker in the late posttransplant and whole posttransplant periods. Thus correlation of C2 with serum lipids showed differences during posttransplant follow-up. C0, on the other hand, was positively correlated with total cholesterol levels in all periods, being significant for the whole posttransplant period (r=0.293, P=.000) and for the late posttransplant period (r=0.196, P=.025). Although not statistically significant, C0 levels were higher among hypertriglyceridemic or hypercholesterolemic episodes both in the early and the late posttransplant periods. When only the C0 levels of all 25 patients were analyzed (789 visits), C0 and serum cholesterol levels were positively correlated both in the early and the late posttransplant periods (P=.013, r=0.198 and P=.000, r=0.177, respectively). We concluded that C0 has a more predictable correlation with serum cholesterol levels after renal transplantation in adolescent patients.

What is the risk of pyelonephritis due to desmopressin in rats with cystitis?

The risk of pyelonephritis in children with asymptomatic cystitis or bacteriuria, using desmopressin for primary nonpoliuric nocturnal enuresis, is not known. The aim of this study was to study whether there is a risk of pyelonephritis in rats with cystitis using desmopressin. Wistar rats (n = 28) were divided into four groups of cystitis (groups I-IV). DDAVP (2 microg daily) and saline (0.5 ml daily) were injected intramuscularly for 7 days in groups II and IV and groups I and III, respectively. The urinalysis, urine culture, and 24-h urinary volume (UV(24)) were assessed for all rats on days 1, 3, 5, and 7. In groups III and IV these studies were also performed on days 14, 21, and 28. Serum creatinine was determined on day 7 in all rats and on day 28 in groups III and IV. Groups I and II and groups III and IV were killed at the end of days 7 and 28, respectively. Kidneys and urinary bladders were graded subjectively for inflammation and fibrosis. Inflammation and fibrosis scores in kidney and bladder tissues were not different between DDAVP or saline-injected rats in cystitis groups at weeks 1 and 4. No fibrosis was found in any of the urinary bladders on histological examination. Ascendant pyelonephritis was detected in each of the four rats in DDAVP-administered and saline-administered cystitis groups. The histopathologic scores of the renal tissue with pyelonephritis showed no correlation with the daily urine volume, the positive test results for urine leukocyte esterase with dipstick test, the urine culture results for E. coli based on colony-forming unit per milliliter, or serum creatinine levels in cystitis groups. It was found that the administration of DDAVP to cystitis groups did not increase the risk of ascendant pyelonephritis.

Cumulative effects of conjugated linoleic acid and exercise on endurance development, body composition, serum leptin and insulin levels.

AIM: The aim of this study was to evaluate the accruing effects of conjugated linoleic acid (CLA) supplementation and aerobic exercise (Ex) on body composition and serum lipid profile in humans. METHODS: Forty-four healthy female young subjects were divided ExCLA, CLA, Ex and control (C) groups. The groups of CLA and ExCLA were supplemented with 3.6 g/d CLA whilst ExCLA and Ex groups were exercised for 30 min(-1.)3 days(-1.)week(-1) for 6 weeks. RESULTS: After the study period, fat ratio, fat mass, waist and hip girths were reduced in all experimental groups and fat-free mass induced in ExCLA and CLA groups and body weight was reduced in the CLA group when compared to baseline levels. These alterations were significantly different than those of controls with the highest variations were observed in the ExCLA. There was no change in serum leptin, apo-AI, apo-B, total cholesterol, HDL, LDL, free fatty acid, and triglyceride levels. Serum glucose concentrations of ExCLA and CLA groups and insulin level of ExCLA group decreased significantly as compared to baseline levels with only serum glucose reduction of both groups were significantly different than those of controls (P<0.05). Endurance performance significantly increased in ExCLA and Ex groups (P<0.01) but did not vary in the CLA and controls. CONCLUSIONS: It was shown that both CLA and exercise were effective in improvement of body composition and these effects were cumulated when they have been used together. CLA supplementation alone or with exercise seems effective on serum glucose and insulin concentrations but ineffective on endurance performance.

Enhanced sludge conditioning by enzyme pre-treatment: comparison of laboratory and pilot scale dewatering results.

The effect of enzyme pre-treatment on dewaterability of anaerobically digested sludge was investigated at both laboratory and pilot scale. Our results revealed a significant increase in cake solid content (27% cake solids compared to 18% without enzyme pre-treatment), using an enzyme dose of only 20 mg/L. In order to assess practical application, enzyme pre-treatment was applied at the Wilmington, Delaware (U.S.) wastewater treatment plant, using a pilot-scale centrifuge. However, the efficiency reached in laboratory scale could not be obtained in pilot scale, where the final cake solids content did not exceed 20%. Centrifuge and belt filter press (simulated by Crown Press) dewatering were compared in terms of the process efficiencies in the absence and presence of enzyme pre-treatment. Possible factors that might cause the differences were tested by experimental and statistical comparisons. Results indicated that the higher shear applied in centrifugation is responsible for the lack of improved cake solids. The network strength of sludge determined by rheological measurements revealed that enzymatic treatment weakens the gel structure of the sludge floc through the hydrolysis of extracellular polymeric substances; this allows improved dewatering by filtration processes, but leads to floc deterioration when subjected to high shear during centrifugation.

The factors affecting blood pressure in pediatric renal transplant recipients.

To investigate the parameters affecting systemic blood pressure in pediatric renal transplant recipients, we retrospectively examined the data from 19 adolescent renal transplant recipients including 6 girls overall, mean age of 15,47 +/- 3.56 years. Serum creatinine (Scr), fractional extraction of sodium (FENa), whole blood trough cyclosporine(C0), plasma total cholesterol (TC) and triglyceride levels, and systolic and diastolic blood pressure (SBP and DBP) were monitored during a total of 677 visits. SBP and DBP, classified as <95p (groups 1s and 1d) and >95p (groups 2s and 2d), were correlated with differences between groups 1 and 2. Group 2s Scr and FENa levels were higher than group 1s (P =.002 and P =.048, respectively), whereas C0 and FENa levels were higher in Group 2d than Group 1d (P = 0.028 and P = 0.036, respectively). Among the entire group, SBP and DBP positively correlated with C0; Scr and SBP, with FENa. While there was a positive correlation between SBP and C0 in groups 1s and 2s (r = 0.188, P <.000; and r = 0.145, P =.040), DBP was only associated with C0 in group 1d (P =.03, r = 0.156). In contrast, DBP showed a positive correlation with Scr in group 2d (P =.023, r = 0.132), and SBP with Scr in Group 1s. C0 and Scr levels were correlated in Groups 1s, 1d and 2d. At high BP levels (>95p), SBP is mostly affected by C0; DBP, with Scr. However, in both groups these two parameters positively correlate with each other. Thus, in adolescent renal transplant recipients the cause of high blood pressure does not appear to be solely related to cyclosporine related to induced allograft dysfunction.