Search

This paper provides a step-by-step description of integrated methodology for quantification and prediction of gas (methane, CH4) content dynamics in shallow aquatic sediments under changing spatial and temporal conditions. Presence of gas bubbles even in small concentrations significantly affects sediment compressibility, which in turn decreases sound speed in sediment. Our integrated methodology consists of two basic steps. In the first step, free gas content is evaluated by acoustic applications based on the sound speed inferred from the reflection coefficient from gassy bottom. The experimental bottom reflections are registered and compared to the simulated ones, using a geoacoustic inversion technique. The best match between the model and the experiment provides sediment sound speed estimate, which is converted into free gas content using a basic relation. In the second step, a multivariate linear regression is fitted for gas content and closed form expression of gas content dependence on the following predictors, which change spatially and temporally over the aquatic ecosystem, is obtained: 1) water depth, 2) short-leaving CH4 production rate peaks fueled by punctuated organic matter deposition; and 3) CH4 bubble dissolution rates. • Gas content and sound speed in the sediment are estimated via the geoacoustic inversion technique by matching the experimentally recorded and simulated bottom reflections • Only single source and receiver are required for the acoustic methodology • A multivariate linear regression is fitted for gas content to indicate its dependence on various predictors that change spatially and temporally over the lake

Introduction D-serine and the DAO enzyme may impact the NMDA receptor and contribute to schizophrenia, but the exact role and outcomes are not fully understood due to the complexity of the disorder. Objectives We analyzed serum levels of d-serine and DAO in untreated individuals with schizophrenia during acute psychotic episodes. We correlated these factors with clinical characteristics and compared results to a healthy control group. We also examined any differences after six months of treatment. Methods The study involved 89 patients with schizophrenia or related psychotic disorders who were hospitalized due to psychotic episodes. Also, the study had 81 healthy participants matched in terms of gender, age, and smoking status with the patient group. PANSS, CGI, GAS, CDSS, and MoCA were applied to determine the severity of the disease. Serum d-serine and DAO levels were measured by ELISA kits. Results During an acute psychotic episode, patients had significantly lower levels of D-serine, DAO, and D-serine/DAO ratio compared to healthy individuals (Z=6.52, p

As the impact of fossil fuels on the planet becomes clear, the world is increasingly focusing on renewable energy sources [...]

Abstract Background The ideal extent of lymphadenectomy (LAD) in esophageal oncological surgery is debated. There is no evidence for improved survival after standardized paratracheal lymph node resection performing oncological esophagectomy. Lymph nodes from the lower paratracheal station are not standardly resected during 2-field Ivor-Lewis esophagectomy for esophageal cancer. The objective of this study was to evaluate the impact of lower paratracheal lymph node (LPL) resection on perioperative outcome during esophagectomy for cancer and analyze its relevance. Methods Retrospectively, we identified 200 consecutive patients operated in our center for esophageal cancer from January 2017 – December 2019. Patients with and without lower paratracheal LAD were compared regarding demographic data, tumor characteristics, operative details, postoperative complications, tumor recurrence and overall survival. Results 103 out of 200 patients received lower paratracheal lymph node resection. On average, five lymph nodes were resected in the paratracheal region and cancer infiltration was found in two patients. Those two patients suffered from neuroendocrine carcinoma and melanoma respectively. Cases with lower paratracheal lymph node yield had significantly less overall complicated procedures (p = 0.026). Regarding overall survival and recurrence rate no significant difference could be detected between both groups (p = 0.168 and 0.371 respectively). Conclusion The resection of lower paratracheal lymph nodes during esophagectomy remains debatable for distal squamous cell carcinoma or adenocarcinoma of the esophagus. Tumor infiltration was only found in rare cancer entities. Since resection can be performed safely, we recommend LPL resection on demand.

Background. Peipsi whitefish, Coregonus maraenoides Polyakov, 1874, is an endemic species of Lake Peipsi (Chudskoe) in Estonia and Russia. In the mid-1970s, it was introduced into the biggest Bulgarian artificial body of water—the Iskar Reservoir (Danube River basin). A recent survey confirmed the existence of a self-sustaining population of the Peipsi whitefish in the dam lake. Establishing a suitable method for determining Peipsi whitefish age would allow fishery managers and biologists to extract valuable information on various population parameters. Therefore, the aim of the presently reported study was to test the suitability of scales, pectoral fin rays, and otoliths for the most reliable age determining of Peipsi whitefish. Materials and methods. Age estimates were obtained from transverse sections of sagittal otoliths and pectoral fins, and scales from 54 Peipsi whitefish, collected between October and March 2016–2017. Two readers estimated ages from all three structures independently. The precision and bias of age estimates between readers and among structures were compared using age bias plots, coefficient of variation (CV), percent agreement (PA), and level of readability. Mean consensus ages from two readers for each structure were compared. Results. Mean consensus age estimates obtained by analysing the scales (2.0 years) were significantly lower than those obtained by analysing the fin rays (2.6) and otoliths (2.7). Between-reader percent agreement was lower and the coefficient of variation was higher for otoliths (PA = 22.2%; CV = 27.6) compared with scales (PA = 46.6%; CV = 10.02) and pectoral fin rays (PA = 67.4%; CV = 10.12). Comparison of age estimates from the different structures revealed the highest PA and the lowest CV values between otoliths and pectoral fin rays (PA = 62.6%; CV = 10.03%), while the lowest PA and highest CV (PA = 35%, CV = 25.03) were observed between age estimates from fin rays and scales (CV, P > 0. 005). The otolith and scale ages agreed for 46.7% and CV was 21.5. The scales were considered by both readers with the highest level of readability (88.9%) than the pectoral fin rays (70.4%) and otoliths (50%). Conclusion. The use of fin rays is recommended for the age estimation of C. maraenoides from the Iskar Reservoir but further work is needed to validate the accuracy of ageing methodology for small, under one-year old Peipsi whitefish.

An analytical solution is given to investigate the vibrations of a membrane under the effect of an incoming fluid flow perpendicular to it. The membrane is located at the stagnation point of the flow and is of finite width but infinite length. A rigid wall extends through the finite width of the membrane to infinity. The flow is considered to be a small perturbation on the two dimensional potential stagnation flow solution due to the vibrations of the membrane, and the membrane is modeled by the linear vibration equation. The resulting coupled problem is solved by a Galerkin procedure and the eigenvalue equation relating the membrane frequency to the other parameters is derived.

Abstract This study investigated the effects of threaded bolt fasteners on the initial and final stiffness of bolted joints in special steel modular construction. A comprehensive set of 246 specimens, including 4, 7.6, and 12 mm thick plates with 20 and 30 mm diameter bolts and different end spacings, were tested. The results revealed that connections with threaded bolts exhibited lower initial stiffness compared to pure shaft connections. This study introduced a novel formula that significantly improved simulation results for bolted joints, surpassing previous modeling approaches. Following the American Society for Testing and Materials (ASTM) definition, the “elastic” stiffness values obtained from the laboratory tests were compared with those of Eurocode provisions. Additionally, ad hoc formulas were proposed for the stiffness of shank, lap connection with partially threaded, and fully threaded bolts. These results offer valuable insights for enhancing the stiffness of bolted shear connections.

Background. Fish introductions have been a common tool to increase efficiency of utilization of water bodies and diversification of aquaculture production. As a result of increased interest in aquaculture and recreational fishing, throughout the past 70 years, the number of non-native fishes in Bulgaria has dramatically increased. This paper reviews the history, current state, and tendencies of the fish introductions in Bulgarian freshwaters. Materials and methods. The statistical data about introductions and aquaculture production were provided by the National Agency Fisheries and Aquaculture (Ministry of Agriculture and Forestry). A part of the data for restocking activities was provided by Bulgarian Union of Hunters and Fishermen. The taxonomy of freshwater fishes was based on the review of Eschmeyer (2006). Results. At present, twenty-six exotic species have been intentionally or unintentionally introduced in Bulgarian inland waters. They represent 15% of Bulgarian′s freshwater fish fauna and provide more than 60% of aquaculture production. The most abundant are exotic cyprinids (Cyprinidae) and salmonids (Salmonidae), constituting 22% and 18% of all introductions, respectively. The most intensive import of non-indigenous fishes, namely East Asian herbivorous carps (Cyprinidae), into Bulgaria occurred in the middle of the 1960s. Only twelve species have been naturalized. Two of them (Lepomis gibbosus and Perccottus glenii) are considered invasive. Along with these fish introductions, parasites, bacterial and viral pathogens were imported. Conclusion. The results of different fish introductions into Bulgarian freshwaters are controversial. Along with the positive influence on the aquaculture development, some extremely negative consequences, such as introduction of pathogens and spread of invasive species were observed. New introductions of fish species should not be made without scientific analyses evaluating the potential effects of introductions. Research, education, and strict control are the key tools of any effort to prevent the spread of the alien fish species.

Taking into account the perspective intensity of motion of transit transport and project rate of movement pursuant to recommendations in relation to the rational placing of geometrical elements of the route the parameters of the route of roundabout highways are determined.

Abstract Metal roof panels are commonly used on residential and commercial buildings. Steel panels exposed to hail have not yet been adequately tested for dent resistance. A finite element model (FEM) was used to analyze the entire test setup. To compare artificial hailstones with natural hailstones, which remained intact after impact, different steel sheets were struck by different sizes of artificial hailstones at different terminal velocities. The simulation and the material properties are assessed by comparing the experimental results with the FE model. An equation to predict the dent depth based on kinetic energy and stress is also presented. The results of this study provide a better understanding of the failure modes of hail and roof panels and their effects on dent resistance. In this study, the results of observations and numerical simulations agreed well with those of analytical models. The result is that the proposed equation overestimates the dent depths compared to the dent depths obtained with finite element models, while the equation leads to an underestimation of the dent depths found in the steel sheets.

Background/aim: Recent studies imply the significance of promoter CpG methylation as a biomarker for various cancer types in different genes. ALX3 is one of the candidate genes with prominent promoter methylation status change. In this study, the methylation status of ALX3 gene promoter and its expression was analyzed in lung cancer cell lines and clinical samples from The Cancer Genome Atlas Program (TCGA) program., Materials and Methods: Methylation status was screened using the COBRA Assay, and gene expression in two cancer (A549 & H1299) and one normal (Beas 2B) lung cell lines was determined using RT-PCR., Results: ALX3 gene promoter was found to be hypermethylated in both lung cancer cell lines compared to normal cells. However, no difference in the expression of this gene was observed. In addition to our in vitro findings, DNA Methylation and RNA-seq data of 413 adenocarcinoma samples from TCGA-LUAD dataset were analyzed. ALX3 gene was found to be hypermethylated in tumor compared to normal samples. Interestingly, the expression level of ALX3 gene in tumors was found to be higher than that in normal samples., Conclusion: ALX3 gene promoter hypermethylation could serve as a biomarker in lung cancer., (Copyright © 2023 International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.)

Background: Background: Renal ischemia-reperfusion injury (RIRI) is the most frequent cause of acute renal failure in clinical conditions such as trauma and shock as well as renal surgeries. Oxerutin is a member of the flavonoid family and possesses antioxidant properties. The aim of this study was to investigate whether oxerutin has protective effects on RIRI., Methods: Twenty-eight male Wistar albino rats were randomly divided into three groups: sham control group (n=8), RIRI group (n=10), and RIRI + oxerutin group (n=10). RIRI was achieved by clamping the left renal artery for 30 min, followed 1-h reperfusion period. Thereafter, blood samples and left kidney tissue samples were taken for histopathological and biochemical examination. Blood urea nitrogen (BUN), urea, creatinine, and cystatin C levels, which are indicators of kidney function, as well as tumor necrosis factor-alpha, which is an indicator of inflammation were analyzed in blood samples. Total antioxidant status and total oxidant status (TOS), which are indicators of oxidative stress were analyzed on renal tissues. The apoptotic index, an indicator of kidney damage, as well as histopathological changes were evaluated on renal tissues., Results: The apoptotic index, TOS, tumor necrosis factor-alpha, BUN, and urea levels were lower in the RIRI + oxerutin group than in the RIRI group (p<0.05). The results demonstrated that the histopathological and biochemical properties of oxerutin protected rats from RIRI., Conclusion: The findings obtained in this study show that prophylactic administration of oxerutin has protective effects on apoptosis and renal failure caused by RIRI. Therefore, oxerutin can be used as an effective prophylactic agent in the treatment of RIRI.

Nesfatin-1 is a multifunctional neuropeptide having crucial autonomic roles. It is well known that nesfatin-1 collaborates with other central neuromodulatory systems, such as central corticotropin-releasing hormone, melanocortin, oxytocin, and cholinergic systems to show its autonomic effects. Central arachidonic acid cascade plays an important role to provide the homeostasis by exhibiting similar autonomic effects to nesfatin-1. Based on these similarities, the current study was designed to show the effects of intracerebroventricularly (ICV) injected nesfatin-1 on the hypothalamic arachidonic acid (AA) cascade. Immunochemistry and western blot approaches demonstrated that ICV administration of nesfatin-1 provokes an increase in the hypothalamic cyclooxygenase (COX) -1, -2 and lipoxygenase (LOX) protein expression. Moreover, the microdialysis study demonstrated that centrally injected nesfatin-1 increased the posterior hypothalamic extracellular AA products. In conclusion, these findings report that while nesfatin-1 is generating its autonomic effects, it also might be using central prostaglandins and leukotrienes by activating central COX and LOX pathways., (Copyright © 2020 Elsevier B.V. All rights reserved.)

The aim of this study was to evaluate the effects of melatonin on the oxidative stress in heart tissues after induction of experimental periodontitis in rats. Thirty Wistar Albino male rats were divided into four groups as follows: healthy + saline solution (Hs, n = 7), healthy + melatonin (Hm, n = 7), periodontitis + saline solution (Ps, n = 8), and periodontitis + melatonin (Pm, n = 8). Experimental periodontitis was induced using a ligature placed at the gingival margin of the maxillary second molars. Melatonin was applied intraperitoneally (10 mg/kg) every day for 2 weeks. After sacrificing the rats, serum levels of malondialdehyde (MDA), superoxide dismutase (SOD), glutathione peroxidase (GSH-Px) levels, and melatonin levels were evaluated. The Pm group exhibited lower alveolar bone loss than the Ps group. Melatonin levels increased in the periodontitis groups, and the Pm group had lower MDA levels and higher GSH-Px levels than the Ps group. These findings suggest that melatonin administration reduces MDA and increases GSH-Px levels in heart tissue, and these effects may be due to its antioxidant properties. Further studies are needed to understand the effects of melatonin on the association between periodontitis and cardiovascular disease.

Objective: Viscum album (VA) is a species of mistletoe in the family Santalaceae that is thought to have therapeutic properties for several diseases, including diabetes. In the present study, conventional experimental rat model was used with diabetes induced with streptozotocin (STZ) to evaluate effect of VA on lipid peroxidation and antioxidant system., Methods: Total of 32 adult, male Sprague-Dawley rats were divided into 4 groups of 8 rats: Control group, STZ group, VA group, and group administered VA+STZ. VA extract was 100 mg/kg preparation delivered once a day by oral gavage for 10 days. Single dose of 55 mg/kg STZ citrate buffer (0.1 M, pH 4.5) was administered intraperitoneally to induce diabetes. Fasting blood glucose level was measured and recorded. Animals were sacrificed, and catalase (CAT), malondialdehyde (MDA), and protein present in liver and kidney tissue samples were measured. Activity of CAT, an antioxidant enzyme, was studied according to the Aebi method. MDA, a product of lipid peroxidation, was analyzed using Draper and Hadley spectrophotometric procedure. Protein level was determined using supernatant and extract of tissue homogenates according to Lowry method. Data were assessed using one-way analysis of variance and pairwise comparisons between groups. Post-hoc analysis included Dunnet test, Duncan test, and least significant difference test. P<0.05 was considered significant probability value., Results: Oxidative stress is associated with diabetic complications. VA administered to diabetic rats reduced oxidative stress and improved their general condition., Conclusion: Further studies are needed to enhance understanding of potential antidiabetic and antioxidant effects of VA., Competing Interests: Conflicts of Interest: None declared.

The goal of this study was to define the effect on hip contact forces of including subject-specific moment generating capacity in the musculoskeletal model by scaling isometric muscle strength and by including geometrical information in control subjects, hip osteoarthritis and total hip arthroplasty patients. Scaling based on dynamometer measurements decreased the strength of all flexor and abductor muscles. This resulted in a model that lacked the capacity to generate joint moments required during functional activities. Scaling muscle forces based on functional activities and inclusion of MRI-based geometrical detail did not compromise the model strength and resulted in hip contact forces comparable to previously reported measured contact forces.

We report a case with calciphylaxis very rarely presenting with bilateral optic neuropathy, acral gangrene and visceral ischaemia. Bilateral papilloedaema was found in a 43 year-old female with chronic renal failure. Acral dry gangrene was observed. Pathological examination of her amputated thumb revealed calcification, thrombi, obstructive endovascular fibrotic areas in the walls of arteries. She was diagnosed with calciphylaxis. Bilateral optic neuropathy was defined secondary to calciphylaxis. Abdominal computerized tomography revealed prominent calcifications in mesenteric, spleen and renal arteries. She died eight months after the diagnosis. Calciphylaxis should be considered in the differential diagnosis of the optic neuropathy.

Vascular malformations are non-neoplastic expansions of blood vessels that arise due to errors during angiogenesis. They are a heterogeneous group of sporadic or inherited vascular disorders characterized by localized lesions of arteriovenous, capillary, or lymphatic origin. Vascular malformations that occur inside bone tissue are rare. Herein, we report loss-of-function mutations in ELMO2 (which translates extracellular signals into cellular movements) that are causative for autosomal-recessive intraosseous vascular malformation (VMOS) in five different families. Individuals with VMOS suffer from life-threatening progressive expansion of the jaw, craniofacial, and other intramembranous bones caused by malformed blood vessels that lack a mature vascular smooth muscle layer. Analysis of primary fibroblasts from an affected individual showed that absence of ELMO2 correlated with a significant downregulation of binding partner DOCK1, resulting in deficient RAC1-dependent cell migration. Unexpectedly, elmo2-knockout zebrafish appeared phenotypically normal, suggesting that there might be human-specific ELMO2 requirements in bone vasculature homeostasis or genetic compensation by related genes. Comparative phylogenetic analysis indicated that elmo2 originated upon the appearance of intramembranous bones and the jaw in ancestral vertebrates, implying that elmo2 might have been involved in the evolution of these novel traits. The present findings highlight the necessity of ELMO2 for maintaining vascular integrity, specifically in intramembranous bones., (Copyright © 2016 American Society of Human Genetics. All rights reserved.)

Purpose: The aim of this study was to compare the biomechanical parameters of the cornea and intraocular pressure (IOP) before and after hemodialysis (HD) in patients with end-stage renal disease (ESRD) and also healthy subjects., Materials and Methods: Twenty-one patients with ESRD undergoing HD treatment (study group) and 21 healthy individuals (control group) were enrolled in this prospective study. Right eyes of each subjects were included. Central corneal thickness (CCT) were measured using Sirius Scheimpflug camera. Corneal hysteresis (CH), corneal resistance factor (CRF), corneal-compensated IOP (IOPcc), and Goldmann-related IOP (IOPg) were measured using ocular response analyzer. In the study group, measurements were taken just before HD and 30 minutes after HD., Results: The mean CCT, CRF, IOPg values did not differ between pre-HD, post-HD, and controls (P > 0.05). CH was found to be significantly higher in control group (10.6 ± 1.2 mm Hg) when compared with pre-HD (8.07 ± 1.8 mm Hg) and post-HD (8.8 ± 1.6 mm Hg) CH values (P = 0.0001). The mean IOPcc values did not differ pre-HD (18.5 ± 3.5 mm Hg) and post-HD (17.8 ± 3.9 mm Hg) (P = 0.39). The mean IOPcc values were lower significantly in control group (15.4 ± 2.8 mm Hg) when compared with pre-HD and post-HD values (P = 0.02 and 0.02, respectively). Significant correlations were seen between post-HD CRF and post-HD CCT (r = 0.6, P = 0.03); and post-HD IOPg and post-HD CCT (r = 0.51, P = 0.01)., Conclusions: ESRD may disrupt the biomechanical properties of the cornea. Changes in ocular response analyzer parameters should be kept in mind to evaluate accurate IOP measurements in patients with ESRD.

Purpose: To investigate the chromosomal changes in patients with benign prostatic hyperplasia (BPH)., Materials and Methods: A total of 54 patients diagnosed with clinical BPH underwent transurethral prostate resection to address their primary urological problem. All patients were evaluated by use of a comprehensive medical history and rectal digital examination. The preoperative evaluation also included serum prostate-specific antigen (PSA) measurement and ultrasonographic measurement of prostate volume. Prostate cancer was detected in one patient, who was then excluded from the study. We performed conventional cytogenetic analyses of short-term cultures of 53 peripheral blood samples obtained from the BPH patients., Results: The mean (±standard deviation) age of the 53 patients was 67.8±9.4 years. The mean PSA value of the patients was 5.8±7.0 ng/mL. The mean prostate volume was 53.6±22.9 mL. Chromosomal abnormalities were noted in 5 of the 53 cases (9.4%). Loss of the Y chromosome was the most frequent chromosomal abnormality and was observed in three patients (5.7%). There was no statistically significant relationship among age, PSA, prostate volume, and chromosomal changes., Conclusions: Loss of the Y chromosome was the main chromosomal abnormality found in our study. However, this coexistence did not reach a significant level. Our study concluded that loss of the Y chromosome cannot be considered relevant for the diagnosis of BPH as it is for prostate cancer. Because BPH usually occurs in aging men, loss of the Y chromosome in BPH patients may instead be related to the aging process.

Introduction: The aim of this study was to evaluate the potential association of single gene polymorphisms of manganese superoxide dismutase (MnSOD), glutathione peroxidase 1 (GPX1) and catalase (CAT) with clinical outcomes of acute kidney injury (AKI)., Materials and Methods: Ninety AKI patients and 101 healthy volunteers were included in the study. Determination of MnSOD rs4880, GPX1 rs1050450 and CAT rs769217 polymorphisms was performed using real-time polymerase chain reaction amplification. The duration of hospitalization of AKI patients, dialysis and intensive care requirements, sepsis, oliguria and in-hospital mortality rates were assessed., Results: The MnSOD, GPX1 and CAT genotypes and allele frequencies of AKI patients did not differ significantly from those of healthy controls. In patients with a T allele in the ninth exon of the CAT gene, intensive care requirements were greater than those of patients with the CC genotype (p = 0.04). In addition, sepsis and in-hospital mortality were observed significantly more frequently in patients with a T allele in the ninth exon of the CAT gene (p = 0.03). Logistic regression analysis determined that bearing a T allele was the primary determinant of intensive care requirements and in-hospital mortality, independent of patient age, gender, presence of diabetes and dialysis requirements (OR 6.10, 95% CI 1.34-27.81, p = 0.02 and OR 10.25, 95% CI 1.13-92.80, p = 0.04, respectively)., Conclusion: Among AKI patients in the Turkish population, hospital morbidity and mortality were found to be more frequent in patients bearing a T allele of the rs769217 polymorphism of the CAT gene.

Purpose: The aim of the present study was to investigate oxidative stress and apoptosis in kidney tissues of male Wistar rats that pre- and postnatally exposed to wireless electromagnetic field (EMF) with an internet frequency of 2.45 GHz for a long time., Methods: The study was conducted in three groups of rats which were pre-natal, post-natal. and sham exposed groups. Oxidative stress markers and histological evaluation of kidney tissues were studied., Results: Renal tissue malondialdehyde (MDA) and total oxidant (TOS) levels of pre-natal group were high and total antioxidant (TAS) and superoxide dismutase (SOD) levels were low. Spot urine NAG/creatinine ratio was significantly higher in pre- and post-natal groups (p < 0.001). Tubular injury was detected in most of the specimens in post-natal groups. Immunohistochemical analysis showed low-intensity staining with Bax in cortex, high-intensity staining with Bcl-2 in cortical and medullar areas of pre-natal group (p values, 0.000, 0.002, 0.000, respectively) when compared with sham group. Bcl2/Bax staining intensity ratios of medullar and cortical area was higher in pre-natal group than sham group (p = 0.018, p = 0.011)., Conclusion: Based on this study, it is thought that chronic pre- and post-natal period exposure to wireless internet frequency of EMF may cause chronic kidney damages; staying away from EMF source in especially pregnancy and early childhood period may reduce negative effects of exposure on kidney.

Objectives: This study aims to investigate the genetic association between single nucleotide mutation in mitochondrial manganese superoxide dismutase and a Behçet's disease (BD) population by using molecular techniques., Patients and Methods: Ninety-three BD patients (45 males, 48 females; mean age 33.15±8.99 years; range 17 to 65 years) and 125 controls (58 males, 67 females; mean age 28.33±7.31 years; range 18 to 62 years) were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The genotypic distributions in BD patients and controls were consistent with the Hardy-Weinberg equilibrium., Results: Significant differences were observed between BD patients and controls in terms of genotypic distribution. Frequencies of alanine (Ala)/Ala, Ala/valine (Val), and Val/Val were 14.0% (n=13), 45.2% (n=42), and 40.9% (n=38) in BD patients and 21.6% (n=27), 53.6% (n=67), and 24.8% (n=31) in controls, respectively (p=0.033)., Conclusion: The Val/Val genotype of the manganese superoxide dismutase gene is associated with the physiopathology of BD in a group of Turkish patients., Competing Interests: Conflict of Interest: The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.

Combined immunodeficiencies (CIDs) are heterogeneous group of disorders characterized by abrogated/impaired T cell development and/or functions that resulted from diverse genetic defects. In addition to the susceptibility to infections with various microorganisms, the patients may have lymphoproliferation, autoimmunity, inflammation, allergy and malignancy. Recently, three groups have independently reported patients having mutations in STK4 gene that cause a novel autosomal recessive (AR) CID. We describe here two siblings with a novel STK4 mutation identified during the evaluation of a group of patients with features highly overlapping with those of DOCK-8 deficiency, a form of AR hyperimmunoglobulin E syndrome. The patients' clinical features include autoimmune cytopenias, viral skin (molluscum contagiosum and perioral herpetic infection) and bacterial infections, mild onychomycosis, mild atopic and seborrheic dermatitis, lymphopenia (particularly CD4 lymphopenia), and intermittent mild neutropenia. Determination of the underlying defect and reporting the patients are required for the description of the phenotypic spectrum of each immunodeficiency., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Our objective in this experimental study is to research the effect of the intra-abdominal pressure which rises following pneumoperitoneum and whether Theophylline has a possible protective activity on this situation. In our study, 24 Wistar Albino rats were used. Rats were divided into two groups. The first group was set for only pneumoperitoneum model. The second group was given 15 mg/kg of Theophylline intraperitoneally before setting pneumoperitoneum model. Then urea, creatinine, cystatin-C, tissue and serum total antioxidant capacity, total oxidant capacity and oxidative stress index in two groups were measured and compared with each other. Apoptosis and histopathological conditions in the renal tissues were examined. The differences between the groups were analyzed with the Mann-Whitney U test. Results were considered significant at p < 0.05. No statistically significant difference was determined between tissue and serum averages in two groups in terms of TAS, TOS and OSI values (p > 0.05). The mean value of urea were similar in pneumoperitoneum and pneumoperitoneum + theophylline groups (p = 0.12). The mean cystatin-C value was 2.2 ± 0.3 µg/mL in pneumoperitoneum, 1.74 ± 0.33 µg/mL in pneumoperitoneum + theophylline (p = 0.002). According to our study, lower cystatin-C levels in the group, where Theophylline was given, are suggestive of lower renal injury in this group. However, this opinion is interrogated as there is no difference in terms of tissue and serum TAS, TOS, OSI and urea values between the groups.

Introduction: It was reported that the genetic susceptibility of major depressive disorder (MDD) is related with genetic polymorphisms. The aim of this study was to investigate the possible association of the genotype and allele frequencies of Ser49Gly and Arg389Gly polymorphisms in MDD by comparing them with healthy subjects., Methods: A total of 144 patients with MDD diagnosed according to Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV) criteria and 105 healthy controls were included in the study. Polymerase chain reaction (PCR) with restriction fragment length polymorphism (RFLP) was used for genotyping., Results: Of the 144 participants in the MDD group, 77 (53.5%) had homozygous wild type (AA), 57 (39.6%) had heterozygous type (AG), and 10 (6.9%) had mutant (GG) genotype for Ser49Gly, whereas 75 (52.1%) had homozygous wild type (GG), 59 (41.0%) had heterozygous (GC) type, and 10 (6.9%) had mutant homozygous (CC) genotype for Gly386Arg. There were no significant difference in the allele and genotype frequencies of the beta-1-adrenergic receptor (ADRB1) gene for Ser49Gly and Arg389Gly polymorphisms after comparing with healthy controls (p=0.626; p=0.863 and p=0.625; p=0.914)., Conclusion: The results of our study did not reveal a major effect of the polymorphism of Ser49Gly and Gly389Arg in the ADRB1 gene in MDD. Further studies with larger sample size are required to elucidate the role of other beta-1 adrenergic gene polymorphisms in MDD., Competing Interests: Conflict of Interest: No conflict of interest was declared by the authors.

Background/aim: To compare the protective efficacy of erdosteine and vitamins C and E against renal injury caused by hind limb ischemia-reperfusion (I/R)., Materials and Methods: Rats were split into 4 groups: group I as the control, group II as I/R, group III as I/R + erdosteine, and group IV as I/R + vitamins C and E. Superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GSH-Px) activities and malondialdehyde (MDA) tissue levels were determined., Results: MDA levels were found comparable with the control group in groups II and III. However, they were considerably decreased in group IV when compared to group II (P < 0.01). Additionally, SOD, CAT, and GSH-Px activities were considerably (P < 0.05) decreased in group II. While CAT and GSH-Px activities were restored (P <0.01) by vitamin E and C treatment, SOD activity was not significantly affected. While GSH-Px activities were higher (P < 0.05) with erdosteine administration, SOD and CAT activities were unchanged., Conclusion: The protective effect of vitamins C and E is higher than that of erdosteine treatment in reducing the oxidative stress after renal ischemia in this animal model.

Background/aim: Oral essential amino acids (AAs) containing supplements (EAS) and AA containing dialysate (ACD) are frequently used in peritoneal dialysis (PD) patients with malnutrition. The present study was conducted to investigate two strategies and compare their effects on the malnutrition status of PD patients., Materials and Methods: A total of 31 EAS, 14 ACD patients were enrolled in this study. Serum albumin levels were lower than 3.5 g/dL in all subjects. EAS group patients took five pills containing AAs three times a day with meals. In the other, 2.000 cc of 1.1% ACD was given to patients daily during the study. Demographic and laboratory parameters were analyzed and compared at baseline and 6th month., Results: Significant increases in BMI, albumin, and protein in both groups. Mean albumin levels increased significantly by 0.54 g/dL in ACD group (p < 0.005) and 0.49 g/dL in EAS group (p < 0.001) following 6 months. Mean albumin and delta albumin levels did not differ between two groups., Conclusion: These strategies may play an important role in increasing albumin levels and improving the nutritional status of PD patients.

Cerebrofaciothoracic dysplasia (CFT) (OMIM #213980) is a multiple congenital anomaly and intellectual disability syndrome involving the cranium, face, and thorax. The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT/MRI findings including hypoplasia of corpus callosum, enlargement of septum pellicidum, and diffuse hypodensity of the grey matter, flat face, hypertelorism, cleft lip and cleft palate, low-set, posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies. The underlying genetic defect remains unknown. Using combination of homozygosity mapping and whole-exome sequencing, we identified a homozygous nonsense founder mutation, p.Arg87Ter (c.259 C>T), in the human transmembrane and coiled-coil domains protein 1 (TMCO1) in four out of five families of Turkish origin. The entire critical region on chromosome 1q24 containing TMCO1 was excluded in the fifth family with characteristic findings of CFT providing evidence for genetic heterogeneity of CFT spectrum. Another founder TMCO1 mutation has recently been reported to cause a unique genetic condition, TMCO1-defect syndrome (OMIM #614132). TMCO1-defect syndrome shares many features with CFT. This study supports the fact that "TMCO1-defect syndrome," initially thought to represent a distinct disorder, indeed belongs to the genetically heterogeneous CFT dysplasia spectrum., (© 2013 Wiley Periodicals, Inc.)

The present study was conducted to investigate whether caffeic acid phenethyl ester (CAPE), an active component of propolis extract, has a protective effect on amphotericin B induced nephrotoxicity in rat models. Male Wistar-Albino rats were randomly divided into four groups: (I) control group (n = 10), (II) CAPE group (n = 9) which received 10 μmol/kg CAPE intraperitoneally (i.p.), (III) amphotericin B group (n = 7) which received one dose of 50 mg/kg amphotericin B, and (IV) amphotericin B plus CAPE group (n = 7) which received 10 μmol/kg CAPE i.p. and one dose of 50 mg/kg amphotericin B. The left kidney was evaluated histopathologically for nephrotoxicity. Levels of malondialdehyde (MDA), nitric oxide (NO), enzyme activities including catalase (CAT), and superoxide dismutase (SOD) were measured in the right kidney. Histopathological damage was prominent in the amphotericin B group compared to controls, and the severity of damage was lowered by CAPE administration. The activity of SOD, MDA, and NO levels increased and catalase activity decreased in the amphotericin B group compared to the control group (P = 0.0001, P = 0.003, P = 0.0001, and P = 0.0001, resp.). Amphotericin B plus CAPE treatment caused a significant decrease in MDA, NO levels, and SOD activity (P = 0.04, P = 0.02, and P = 0.0001, resp.) and caused an increase in CAT activity compared with amphotericin B treatment alone (P = 0.005). CAPE treatment seems to be an effective adjuvant agent for the prevention of amphotericin B nephrotoxicity in rat models.

We have characterized a novel autosomal recessive Crouzon-like craniosynostosis syndrome in a 12-affected member family from Antakya, Turkey, the presenting features of which include: multiple suture synostosis, midface hypoplasia, variable degree of exophthalmos, relative prognathism, a beaked nose, and conductive hearing loss. Homozygosity mapping followed by targeted next-generation sequencing identified a c.479+6T>G mutation in the interleukin 11 receptor alpha gene (IL11RA) on chromosome 9p21. This donor splice-site mutation leads to a high percentage of aberrant IL11RA mRNA transcripts in an affected individual and altered mRNA splicing determined by in vitro exon trapping. An extended IL11RA mutation screen was performed in a cohort of 79 patients with an initial clinical diagnosis of Crouzon syndrome, pansynostosis, or unclassified syndromic craniosynostosis. We identified mutations segregating with the disease in five families: a German patient of Turkish origin and a Turkish family with three affected sibs all of whom were homozygous for the previously identified IL11RA c.479+6T>G mutation; a family with pansynostosis with compound heterozygous missense mutations, p.Pro200Thr and p.Arg237Pro; and two further Turkish families with Crouzon-like syndrome carrying the homozygous nonsense mutations p.Tyr232* and p.Arg292*. Using transient coexpression in HEK293T and COS7 cells, we demonstrated dramatically reduced IL11-mediated STAT3 phosphorylation for all mutations. Immunofluorescence analysis of mouse Il11ra demonstrated specific protein expression in cranial mesenchyme which was localized around the coronal suture tips and in the lambdoidal suture. In situ hybridization analysis of adult zebrafish also detected zfil11ra expression in the coronal suture between the overlapping frontal and parietal plates. This study demonstrates that mutations in the IL11RA gene cause an autosomal recessive Crouzon-like craniosynostosis.

Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad development. We found through in vivo modeling in Xenopus laevis embryos that Irx5 modulates the migration of progenitor cell populations in branchial arches and gonads by repressing Sdf1. We further found that transcriptional control by Irx5 is modulated by direct protein-protein interaction with two GATA zinc-finger proteins, GATA3 and TRPS1; disruptions of these proteins also cause craniofacial dysmorphisms. Our findings suggest that IRX proteins integrate combinatorial transcriptional inputs to regulate key signaling molecules involved in the ontogeny of multiple organs during embryogenesis and homeostasis.

KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate. Consistent with a role of KIF7 in Hedgehog signaling, we show deregulation of most GLI transcription factor targets and impaired GLI3 processing in tissues from individuals with KIF7 mutations. KIF7 is also a likely contributor of alleles across the ciliopathy spectrum, as sequencing of a diverse cohort identified several missense mutations detrimental to protein function. In addition, in vivo genetic interaction studies indicated that knockdown of KIF7 could exacerbate the phenotype induced by knockdown of other ciliopathy transcripts. Our data show the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies.

Hypertension and related oxidative stress are involved in the pathogenesis of any renal diseases. Angiotensin-converting enzyme inhibitors have multi-directional renoprotective effects. In this study, we aimed to investigate whether lisinopril treatment has any biochemical alterations on renal tissue in L-NAME (Nε-nitro-L-arginine methyl ester) induced hypertension model. Twenty-eight Sprague-Dawley rats were included in this study and divided into four equal groups (n = 7): control group, L-NAME treated group (75 mg/kg/day), L-NAME plus lisinopril treated group and only lisinopril treated group (10 mg/kg/day). L-NAME and lisinopril were continued for 6 weeks. Systolic blood pressures were measured by using tail cuff method. In biochemical analysis, malondialdehyde (MDA, an index of lipid peroxidation) levels, the activities of superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GSH-Px) in renal tissues were used as markers of oxidative stress-induced renal impairment. Microalbumin and N-acetyl-β-D-glucosaminidase (NAG) in urine were determined as markers of renal tubular damage related to hypertension. Chronic L-NAME administration resulted in a significant depletion of serum nitric oxide (NO). When compared with control group, serum creatinine, microalbumin, urine NAG, renal tissue MDA level, and CAT activities were significantly high, while renal tissue SOD and GSH-Px activities low in L-NAME group. In the L-NAME plus lisinopril treated group, serum creatinine, microalbumin and urine NAG, renal MDA level and CAT activity decreased, whereas SOD, GSH-Px activities in renal tissue and serum NO levels were increased. Thus, lisinopril treatment reversed these effects. There were not any significant difference between L-NAME plus lisinopril treated group and control group concerning serum creatinine, renal tissue MDA level and SOD, GSH-Px, CAT activities. These results suggest that lisinopril could diminish biochemical alterations in L: -NAME induced hypertensive renal damage that occurs by oxidative stress.

Background: This study was designed to use carnitine for preventing deposition of end products of lipid peroxidation in rat models in the prevention of ischemia-reperfusion (IR) damage frequently seen following operations of infrarenal abdominal aorta (AA)., Methods: Forty male rats of Sprague-Dawley type were evenly (n = 8) randomized to five groups: sham laparotomy (SHAM), carnitine control (CC), aortic IR (AIR), AIR + low-dose carnitine (AIR+LDC), and AIR + high-dose carnitine (AIR+HDC)., Results: Compared to other groups, serum creatinine levels of AIR group were significantly higher. Also tissue malondialdehyde (MDA) levels of AIR group were significantly higher compared to SHAM, CC, and AIR+HDC groups. In histopathological examination, although tubular necrosis atrophy and tubular degeneration observed in AIR group showed regression with low-dose carnitine, tubular necrosis atrophy, tubular degeneration, glomerular damage, and vascular congestion thrombosis decreased with high-dose carnitine. Total score of histological damage was significantly higher in AIR, AIR+LDC, and AIR+HDC groups compared to SHAM and CC groups. Moreover, total score of histological damage was significantly lower in AIR+HDC group than AIR+LDC group., Conclusions: In this study, we showed carnitine can partially prevent renal damage in infrarenal AIR models of rats. This result may open new prospects to us in the prevention of renal IR damage during surgery of aorta.

Nonalcoholic fatty liver disease (NAFLD) is an important cause of liver failure. Whatever its cause, the liver failure is accompanied by multiple changes in the hemostatic system. The objective of the current report was to study several homeostasis parameters such as protein C, protein S, factor 7, factor 8 levels, platelet counts, prothrombin time and activated partial thromboplastin time, and plasminogen activator inhibitor in patients with fatty liver. A total of 28 consecutive patients with ultrasound proven NAFLD and 33 healthy volunteers were included in the study. Plasma prothrombin time and activated partial thromboplastin time were within normal ranges in both NAFLD and control groups. Plasma factor 7, factor 8, protein S, and protein C levels were decreased in NAFLD patients but the difference was not statistically significant, whereas plasminogen activator inhibitor 1 levels were significantly increased in patients with NAFLD compared to controls. In conclusion, in all types of liver disease, some alterations in hemostatic parameters are awaited. As fatty liver disease is very common in clinical practice, clinicians should be aware of this kind of alterations.

We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of the ala nasi, and low-set, posteriorly rotated ears in two distinct families. Using Affymetrix 250K SNP array genotyping and homozygosity mapping, we mapped this clinical entity to chromosome 12q21. In one of the families, three siblings were affected, and CNV analysis of the critical region showed a homozygous 3.7 Mb deletion containing the ALX1 (CART1) gene, which encodes the aristaless-like homeobox 1 transcription factor. In the second family we identified a homozygous donor-splice-site mutation (c.531+1G > A) in the ALX1 gene, providing evidence that complete loss of function of ALX1 protein causes severe disruption of early craniofacial development. Unlike loss of its murine ortholog, loss of human ALX1 does not result in neural-tube defects; however, it does severely affect the orchestrated fusion between frontonasal, nasomedial, nasolateral, and maxillary processes during early-stage embryogenesis. This study further expands the spectrum of the recently recognized autosomal-recessive ALX-related FND phenotype in humans., (Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Caffeic acid phenethyl ester (CAPE) is an antioxidant that can scavenge free radicals and protect cellular macromolecules, including DNA and proteins, from oxidative damage induced by various agents. The protective effect of CAPE on cisplatin-induced chromosome aberrations has been determined in rat bone marrow cells. The animals were pretreated with a single dose of CAPE (10 micromol/kg body weight [b.w.]) injected intraperitoneally (i.p.) 24 hours before the administration of cisplatin and then sacrificed 24 hours after the cisplatin administration. Cisplatin was administered to rats either alone (5 mg/kg b.w., i.p.) or after CAPE treatment. CAPE has led to a statistically significant decrease in the total number of chromosomal aberrations and abnormal metaphases induced by cisplatin when compared with only cisplatin given groups. We have concluded that CAPE could prevent cisplatin-induced chromosome aberrations by establishing a potent free radical scavenger effect.

Background: Respiratory functions are affected during hemodialysis. The strength of respiratory muscles, ultrafiltration rate, and acid-base balance have been suggested as important factors. L-carnitine is crucial for energy producing, utilization of fatty acid, and possible amino acids. A lack of carnitine in hemodialysis patients is caused by insufficient carnitine synthesis and especially by its loss during dialysis. This study was performed to investigate the chronic effects of L-carnitine treatment on respiratory functions in adults receiving chronic hemodialysis therapy., Methods: A total of 20 hemodialysis patients were scheduled to take L-carnitine supplementation (20 mg/kg three times/week) (group 1), and the rest of 20 hemodialysis patients served as the control group and were observed without supplementation with L-carnitine (group 2). Pre- and post-dialytic L-carnitine levels and post-dialytic respiratory functions tests were performed in both groups at baseline and after six months., Results: The average concentration of free and total carnitine levels increased significantly after six months of supplementation (p < 0.01). While a statistically significant increase between postdialytic forced expiratory volume in one second/forced vital capacity values after treatment period (77.10 +/- 12.15 and 83.00 +/- 14.49, before and after treatment, respectively, p < 0.05) was observed, the increase of vital capacity, forced expiratory volume in one second, and forced expiratory flow between 25-75% of expired vital capacity were not significant in the treatment group (p > 0.05)., Conclusion: Intravenous L-carnitine supplementation could contribute to the management of respiratory dysfunction in chronic hemodialysis patients by improving FEV1/FVC. The mechanism by which LC causes these effects merits further investigation.

Objectives: We aimed to investigate the glomerular hyperfiltration due to pregnancy in women with more parities., Methods: Five hundred women aged 52.57 +/- 8.08 years, without a history of hypertension, diabetes mellitus or complicated pregnancy were involved in the study. They were divided into three groups. Group 1: women with no or one parity (n = 76); group 2: women with two or three parities (n = 333); group 3: women with four or more parities (n = 91). Laboratory parameters and demographical data were compared between the three groups., Results: Mean age, serum urea and serum creatinine were similar between three groups. Patients in group 3 had significantly higher GFR values compared to groups 1 and 2 (109.44 +/- 30.99, 110.76 +/- 30.22 and 121.92 +/- 34.73 mL/min/1.73 m(2) for groups 1, 2 and 3, respectively; P = 0.008 for group 1 vs group 3; P = 0.002 for group 2 vs group 3)., Conclusions: In our study, we suggest that glomerular hyperfiltration due to pregnancy does not have adverse effects on kidney in women with more parities. Pregnancy may have possible protective mechanisms for kidney against adverse effects of glomerular hyperfiltration.

Objective: In patients with suspected urinary tract infection (UTI), antibiotic treatment is usually started empirically, before urine culture results are available. Unfortunately, antibiotic resistance has become an increasingly pressing clinical issue in many countries. The objective of this study was to assess the changing susceptibility of urinary pathogens to commonly used antimicrobials in a six-year period to evaluate the options for empirical antibiotic therapy in children with community acquired UTI., Material and Methods: A retrospective analysis of data from all pediatric urine samples processed at Fatih University Medical School microbiology laboratory was undertaken for a period of six years (January 2000-December 2006)., Results: A total of 767 urinary pathogens were isolated from 767 episodes of UTI in 698 patients. The most common causative agent was Escherichia coli (E. coli) followed by Klebsiella spp. and others. In 2000 almost 60% of the E. coli isolates were susceptible to ampicillin (AMP), more than 40% to Co-trimoxazole (SXT), more than 80% to gentamicin (GN), more than 90% to cefuroxime (CXM) and amikacin (AN), and more than 60% to piperacillin (PIP). By 2006 more than 70% were resistant to AMP and more than 50% were resistant to PIP. In 2000 CIP (2.7% resistant isolates) and CXM (3.4% resistant isolates) were the most active agents against Klebsiella spp.; and none of the isolates was found to be resistant to imipenem (IMP). In 2006 GN (2.7% resistant isolates), CIP (3.5% resistant isolates), CXM (2.7% resistant isolates), and AN (8.9% resistant isolates) were the most active agents against these species and still no resistance to IMP was found. For E. Coli the increase in resistance to AMP, CTX, IMP, and PIP was statistically significant (P < 0.05). For Klebsiella spp. the increase in resistance to AMP and CXM was statistically significant (P < 0.05)., Conclusions: Empirical antibiotic selection should be based on knowledge of the local prevalence of bacterial organisms and antibiotic sensitivities, because resistance patterns may vary in different regions.