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The cerebellar nuclei are a brain region with high iron content. Surprisingly, little is known about iron content in the cerebellar nuclei and its possible contribution to pathology in cerebellar ataxias, with the only exception of Friedreich’s ataxia. In the present exploratory cross-sectional study, quantitative susceptibility mapping was used to investigate volume, iron concentration and total iron content of the dentate nuclei in common types of hereditary and non-hereditary degenerative ataxias. Seventy-nine patients with spinocerebellar ataxias of types 1, 2, 3 and 6; 15 patients with Friedreich’s ataxia; 18 patients with multiple system atrophy, cerebellar type and 111 healthy controls were also included. All underwent 3 T MRI and clinical assessments. For each specific ataxia subtype, voxel-based and volumes-of-interest-based group analyses were performed in comparison with a corresponding age- and sex-matched control group, both for volume, magnetic susceptiblity (indicating iron concentration) and susceptibility mass (indicating total iron content) of the dentate nuclei. Spinocerebellar ataxia of type 1 and multiple system atrophy, cerebellar type patients showed higher susceptibilities in large parts of the dentate nucleus but unaltered susceptibility masses compared with controls. Friedreich’s ataxia patients and, only on a trend level, spinocerebellar ataxia of type 2 patients showed higher susceptibilities in more circumscribed parts of the dentate. In contrast, spinocerebellar ataxia of type 6 patients revealed lower susceptibilities and susceptibility masses compared with controls throughout the dentate nucleus. Spinocerebellar ataxia of type 3 patients showed no significant changes in susceptibility and susceptibility mass. Lower volume of the dentate nuclei was found to varying degrees in all ataxia types. It was most pronounced in spinocerebellar ataxia of type 6 patients and least prominent in spinocerebellar ataxia of type 3 patients. The findings show that alterations in susceptibility revealed by quantitative susceptibility mapping are common in the dentate nuclei in different types of cerebellar ataxias. The most striking changes in susceptibility were found in spinocerebellar ataxia of type 1, multiple system atrophy, cerebellar type and spinocerebellar ataxia of type 6. Because iron content is known to be high in glial cells but not in neurons of the cerebellar nuclei, the higher susceptibility in spinocerebellar ataxia of type 1 and multiple system atrophy, cerebellar type may be explained by a reduction of neurons (increase in iron concentration) and/or an increase in iron-rich glial cells, e.g. microgliosis. Hypomyelination also leads to higher susceptibility and could also contribute. The lower susceptibility in SCA6 suggests a loss of iron-rich glial cells. Quantitative susceptibility maps warrant future studies of iron content and iron-rich cells in ataxias to gain a more comprehensive understanding of the pathogenesis of these diseases.

Sagir, Cagdas/0000-0001-5962-721X; Tunca, Evren/0000-0002-2842-2411 WOS: 000487347700050 This study has investigated metal(loid) contamination in Asartepe Dam Lake, which is used for irrigation in Ankara, Turkey. Contamination Factor and Degree of Contamination were applied to evaluate contamination in the lake sediment. The contamination was shown to be moderate according to a modified Degree of Contamination analysis. Chromium was found to be the highest calculated metal on the Geoaccumulation Index, and the lake was found to be moderate-to-strongly contaminated according to the same method. The Pollution Load Index for the lake sediment varied between 3.11 and 3.5. Enrichment Factors suggest a minor anthropogenic origin for metal(loid) pollution; various statistical techniques were implemented. The greatest correlation among water-borne metal(loid)s was shown by analysis to be between iron and titanium. No strong correlation was observed for sediment samples. The results show that the lake water is relatively free of metal(loid)s. However, this is not the case for the lake sediment.

Senem Yaman Tunc,1 Elif Agacayak,1 Neval Yaman Goruk,2 Mehmet Sait Icen,1 Abdulkadir Turgut,1 Ulas Alabalik,3 Cihan Togrul,4 Cenap Ekinci,5 Aysun Ekinci,6 Talip Gul1 1Department of Obstetrics and Gynecology, School of Medicine, Dicle University, 2Department of Obstetrics and Gynecology, Diyarbakir Memorial Hospital, 3Department of Pathology, School of Medicine, Dicle University, Diyarbakir, 4Department of Obstetrics and Gynecology, School of Medicine, Hitit University, Corum, 5Department of Histology and Embryology, 6Department of Medical Biochemistry, School of Medicine, Dicle University, Diyarbakir, Turkey Aim: The purpose of this study was to investigate the protective effect of honokiol on experimental ischemia/reperfusion injury of rat ovary.Materials and methods: A total of 40 female Wistar albino rats were used in this study. The rats were divided into five groups as follows: sham (Group I), torsion (Group II), torsion + detorsion (Group III), torsion + detorsion + saline (Group IV), and torsion + detorsion + honokiol (Group V). Bilateral adnexa in all the rats except for those in the sham group were exposed to torsion for 3hours. The rats in Group IV were administered saline, whereas the rats in Group V were administered honokiol by intraperitoneal route 30minutes before detorsion. Tissue and plasma concentrations of malondialdehyde and nitric oxide were determined. Ovarian tissue was histologically evaluated. Data analyses were performed by means of Kruskal–Wallis test and Mann–Whitney U-test (Bonferroni correction) in SPSS 15.0 (Statistical Package for Social Sciences; SPSS Inc., Chicago, IL, USA).Results: The torsion and detorsion groups had higher scores in vascular congestion, hemorrhage, and inflammatory cell infiltration compared with the sham group (P

PubMedID: 26595427 Introduction: Mutations of the human GNRH1 gene are an extremely rare cause of normosmic idiopathic hypogonadotropic hypogonadism (nIHH), with only 6 mutations so far described. Patients: As part of a larger study, families with IHH were screened for mutations in genes known to be associated with IHH. In family 1, a 15-year and 9-month-old boy first presented during infancy with micropenis and bilateral cryptorchidism. His pubic and axillary hair is at stage 4 and 2, respectively. His testes are 1 ml bilaterally, and his stretched penile length is 3.6 cm. In family 2, a 19-year and 2-month-old man was referred because of absence of secondary sexual characteristics. His 13-year and 8-month-old sister did not have any breast development. Results: In 3 patients from 2 independent families we identified GNRH1 mutations. In the proband from family 1, a homozygous 1-base deletion (c.87delA) leading to a frameshift mutation (p.G29GfsX12) was identified. In family 2, the affected siblings had a novel homozygous mutation of c.G92A leading to p.R31H. Conclusion: Both mutations in these families are located in the region encoding the decapeptide and in the loci where the mutations have been described before. Therefore, these areas can be considered as mutational hot spots, indicating priority for routine diagnostic gene mutation analysis. © 2015 S. Karger AG, Basel.

Purpose of investigation: The purpose of this study was to determine the prevalence of various human papillomavirus (HPV) types and its relationship with some risk factors among Turkish women. Materials and Methods: A total of 673 patients were included in the study. Cervical samples were taken from the patients for routine Pap smear and HPV DNA tests. HPV DNA was studied in the cervical smear by using the PCR method. Results: The mean age of the patients was 40 +/- 10.9 years. Of all patients, 13.5% had a positive HPV DNA test. In addition, 5.1% of the patients were HPV type 16 positive, 1.5% were HPV type 18 positive, 0.6% were HPV type 31 positive, and 0.9% were HPV type 53 positive. Conclusion: Findings show that awareness should be raised among Turkish women regarding HPV infection and vaccination.

Inflammatory myopathies are a heterogeneous group of diseases with unknown etiology characterized by inflammation of the skeletal muscles and proximal muscle weakness. Dermatomyositis (DM) is an idiopathic inflammatory myopathy with characteristic cutaneous findings such as heliotrope rash, Gottron's sign, Gottron's papules, shawl sign and machinist hand. Amyopathic dermatomyositis (ADM) is a rare but well-recognized clinical subtype of DM, constituting aproximately 10-20% of patients with this disease. It generally manifests only pathognomonic skin findings without clinical and laboratory evidence of muscle involvement. In this report, we present a rare case of ADM associated with interstitial pulmonary disease.

WOS: 000353775900027, PubMed ID: 25604533, Objective. Takayasu arteritis is a rare large vessel vasculitis with incompletely understood etiology. This study was undertaken to perform the first unbiased genome-wide association analysis of Takayasu arteritis. Methods. Two independent cohorts of patients with Takayasu arteritis from Turkey and North America were included in our study. The Turkish cohort consisted of 559 patients and 489 controls, and the North American cohort consisted of 134 patients and 1,047 controls of European ancestry. Genotyping was performed using the Omni1-Quad and Omni2.5 genotyping arrays. Genotyping data were subjected to rigorous quality control measures and subsequently analyzed to discover genetic susceptibility loci for Takayasu arteritis. Results. We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 x 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 x 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 x 10(-10)). The genetic susceptibility locus in RPS9/LILRB3 lies within the leukocyte receptor complex gene cluster on chromosome 19q13.4, and the disease risk variant in this locus correlates with reduced expression of multiple genes including the inhibitory leukocyte immunoglobulin-like receptor gene LILRB3 (P = 2.29 x 10(-8)). In addition, we identified candidate susceptibility genes with suggestive levels of association (P < 1 x 10(-5)) with Takayasu arteritis, including PCSK5, LILRA3, PPM1G/NRBP1, and PTK2B. Conclusion. Our findings indicate novel genetic susceptibility loci for Takayasu arteritis and uncover potentially important aspects of the pathophysiology of this form of vasculitis., University of MichiganUniversity of Michigan System; Vasculitis Foundation; NIH (National Institute of Arthritis and Musculoskeletal and Skin Diseases)United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS) [U54-AR-7319, U01-AR5-1874-04]; NIH (National Center for Research Resources)United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Center for Research Resources (NCRR) [U54-RR-9497]; NIH (National Center for Advancing Translational Sciences, Office of Rare Diseases Research); NIHUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [3-P50-CA-093459, 5-P50-CA-097007, 5-R01-ES-011740, 5-R01-CA-133996]; AbbVieAbbott Laboratories; MSD; PfizerPfizer; Hoffmann-La RocheHoffmann-La Roche; GlaxoSmithKlineGlaxoSmithKline; Arthritis Research UKVersus Arthritis [19289], Supported by the University of Michigan and the Vasculitis Foundation. The Vasculitis Clinical Research Consortium has received support from the NIH (National Institute of Arthritis and Musculoskeletal and Skin Diseases grants U54-AR-7319 and U01-AR5-1874-04, National Center for Research Resources grant U54-RR-9497, and the National Center for Advancing Translational Sciences, Office of Rare Diseases Research). Genotyping data from European American controls were obtained from the High Density SNP Association Analysis of Melanoma: Case-Control and Outcomes Investigation data set (dbGaP study accession: phs000187.v1.p1). Research support for this data set was provided by the NIH (grants 3-P50-CA-093459, 5-P50-CA-097007, 5-R01-ES-011740, and 5-R01-CA-133996).; Dr. Aydin has received consulting fees, speaking fees, and/or honoraria from AbbVie, MSD, and Pfizer (less than $10,000 each). Dr. Pagnoux has received consulting fees, speaking fees, and/or honoraria from Hoffmann-La Roche and GlaxoSmithKline (less than $10,000 each).