scispace - formally typeset
Search or ask a question

Showing papers by "Istanbul University published in 2011"


Journal ArticleDOI
TL;DR: Focal cortical dysplasias (FCD) are localized regions of malformed cerebral cortex and are very frequently associated with epilepsy in both children and adults.
Abstract: Purpose Focal cortical dysplasias (FCD) are localized regions of malformed cerebral cortex and are very frequently associated with epilepsy in both children and adults. A broad spectrum of histopathology has been included in the diagnosis of FCD. An ILAE task force proposes an international consensus classification system to better characterize specific clinicopathological FCD entities. Methods Thirty-two Task Force members have reevaluated available data on electroclinical presentation, imaging, neuropathological examination of surgical specimens as well as postsurgical outcome. Key findings The ILAE Task Force proposes a three-tiered classification system. FCD Type I refers to isolated lesions, which present either as radial (FCD Type Ia) or tangential (FCD Type Ib) dyslamination of the neocortex, microscopically identified in one or multiple lobes. FCD Type II is an isolated lesion characterized by cortical dyslamination and dysmorphic neurons without (Type IIa) or with balloon cells (Type IIb). Hence, the major change since a prior classification represents the introduction of FCD Type III, which occurs in combination with hippocampal sclerosis (FCD Type IIIa), or with epilepsy-associated tumors (FCD Type IIIb). FCD Type IIIc is found adjacent to vascular malformations, whereas FCD Type IIId can be diagnosed in association with epileptogenic lesions acquired in early life (i.e., traumatic injury, ischemic injury or encephalitis). Significance This three-tiered classification system will be an important basis to evaluate imaging, electroclinical features, and postsurgical seizure control as well as to explore underlying molecular pathomechanisms in FCD.

1,395 citations


Book
26 Jul 2011
TL;DR: This article estimated glomerular filtration rate of the human glomerus and showed that the estimated rate can be improved by using the enzyme GFR-BPBP-DBPDBPdiastolic blood pressure
Abstract: ACEangiotensin-converting enzymeBPblood pressureDBPdiastolic blood pressureeGFRestimated glomerular filtration rateESCEuropean Society of CardiologyESHEuropean Society of HypertensionETendothelinIM...

837 citations


Journal ArticleDOI
TL;DR: Somatic heterozygous mutations in IDH1 or IDH2 mutations in cartilage tumors were associated with hypermethylation and downregulated expression of several genes and suggested intraneoplastic and somatic mosaicism.
Abstract: Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. Fourteen of 16 subjects had identical mutations in separate lesions. Immunohistochemistry to detect mutant IDH1 R132H protein suggested intraneoplastic and somatic mosaicism. IDH1 mutations in cartilage tumors were associated with hypermethylation and downregulated expression of several genes. Mutations were also found in 40% of solitary central cartilaginous tumors and in four chondrosarcoma cell lines, which will enable functional studies to assess the role of IDH1 and IDH2 mutations in tumor formation.

452 citations


Journal ArticleDOI
TL;DR: It is shown that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy.
Abstract: Ciliary dysfunction leads to a broad range of overlapping phenotypes, collectively termed ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also contribute modifier alleles to clinically distinct disorders. Here we show that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy. Moreover, although resequencing of TTC21B in a large, clinically diverse ciliopathy cohort and matched controls showed a similar frequency of rare changes, in vivo and in vitro evaluations showed a significant enrichment of pathogenic alleles in cases (P < 0.003), suggesting that TTC21B contributes pathogenic alleles to ∼5% of ciliopathy cases. Our data illustrate how genetic lesions can be both causally associated with diverse ciliopathies and interact in trans with other disease-causing genes and highlight how saturated resequencing followed by functional analysis of all variants informs the genetic architecture of inherited disorders.

348 citations


Journal ArticleDOI
Jérôme Avouac1, Jaap Fransen2, Ulrich A. Walker3, Valeria Riccieri4, Vanessa Smith5, Carolina de Souza Müller6, I. Miniati7, Ingo H. Tarner8, S. Bellando Randone6, Maurizio Cutolo9, Yannick Allanore1, Oliver Distler10, Gabriele Valentini11, L. Czirják12, Ulf Müller-Ladner8, Daniel E. Furst13, A Tyndall3, Marco Matucci-Cerinic7, F De Keyser5, Alberto Sulli9, Carmen Pizzorni9, Britta Maurer10, Stanislaw Sierakowsky14, Otylia Kowal-Bielecka14, P. Coelho, G. Riemekasten15, Simona Rednic16, Ileana Nicoara16, Roberto Caporali, Jiri Stork17, Murat Inanc18, Patricia Carreira19, Srdan Novak, Cecília Varjú12, Carlo Chizzolini20, Camillo Ribi20, Eugeniusz J. Kucharz21, AT Kotulska21, Małgorzata Widuchowska21, Jutta G Richter22, A. Sipek-Dolnicar23, Blaž Rozman23, Armando Gabrielli24, Gianluca Moroncini24, Dominique Farge1, C. Durant1, Hans P. Kiener25, E. Rath25, Paolo Airò, Frank A. Wollheim26, Nicolas Hunzelmann27, Stefano Bombardieri28, A. Della Rossa28, Laura Bazzichi28, Raffaele Pellerito, M. Saracco, Christopher P. Denton29, Madelon C. Vonk, F.H.J. van den Hoogen, Nemanja Damjanov, Ina Kötter30, Stefan Heitmann, Matthias Seidel, Paul Hasler, J.M. van Laar31, Maria João Salvador32, J.A. Pereira da Silva32, Søren Jacobsen33, Margitta Worm15, Annegret Kuhn34, Tatiana Nevskaya35, Evgeny Nasonov35, Raffaella Scorza, Henrik Nielsen, Richard M. Silver, Eric Hachulla, D. Launay, Guido Valesini4, Ruxandra Ionescu36, Daniela Opris36, N. Del Papa, Wanda Maglione, D. Comina, G. Udrea, Coziana Ciurtin, R. Ionitescu, C. Mihai, Cord Sunderkötter34, Jae Bum Jun37, Chris T. Derk38, S. Alhasani, L. Alhajjar, Evelien Ton39, James R. Seibold40, Peter Nash, Luc Mouthon1, C. A. Von Mühlen, Brigitte Krummel-Lorenz, P. Eilbacher, Rene Westhovens41, E. De Langhe41, Miroslav Mayer42, Branimir Anić42, M. Baresic42, F. Stoeckl43, Maria Uprus, S. Popa, M. Buslau, B. Granel, Thierry Zenone, Alessandro Mathieu44, Alessandra Vacca44, Paolo Amerio, T. Tourinho, L. Lonzetti, M. Lemos Lopes, R. E. de Souza45, D. Vealex46, Paola Caramaschi47, Alexandra Balbir-Gurman, Y. Braun, Susanne Ullman33, Magdalena Szmyrka-Kaczmarek48, Ewa Morgiel48, Marie Vanthuyne49, M. Meurer50, P. Rehberger50, Percival D. Sampaio-Barros45 
TL;DR: A core set of preliminary items considered as important for the very early diagnosis of systemic sclerosis were identified in a Delphi exercise among 110 experts in the field of SSc.
Abstract: Objective: To identify a core set of preliminary items considered as important for the very early diagnosis of systemic sclerosis (SSc). Methods: A list of items provided by European League Against Rheumatism (EULAR) Scleroderma Trial and Research(EUSTAR) centres were subjected to a Delphi exercise among 110 experts in the field of SSc. In round 1, experts were asked to choose the items they considered as the most important for the very early diagnosis of SSc. In round 2, experts were asked to reconsider the items accepted after the first stage. In round 3, the clinical relevance of selected items and their importance as measures that would lead to an early referral process were rated using appropriateness scores. Results: Physicians from 85 EUSTAR centres participated in the study and provided an initial list of 121 items. After three Delphi rounds, the steering committee, with input from external experts, collapsed the 121 items into three domains containing seven items, developed as follows: skin domain (puffy fingers/puffy swollen digits turning into sclerodactily);vascular domain (Raynaud's phenomenon, abnormal capillaroscopy with scleroderma pattern) and laboratory domain (antinuclear, anticentromere and antitopoisomerase-I antibodies). Finally, the whole assembly of EUSTAR centres ratified with a majority vote the results in a final face-to-face meeting. Conclusion: The three Delphi rounds allowed us to identify the items considered by experts as necessary for the very early diagnosis of SSc. The validation of these items to establish diagnostic criteria is currently ongoing in a prospective observational cohort.

334 citations


Journal ArticleDOI
David L. Hawksworth1, David L. Hawksworth2, Pedro W. Crous3, Scott A. Redhead, Don R. Reynolds4, Robert A. Samson3, Keith A. Seifert, John W. Taylor4, Michael J. Wingfield5, Özlem Abaci6, Catherine Aime7, Ahmet Asan8, Feng-Yan Bai, Z. Wilhelm de Beer5, Dominik Begerow9, Derya Berikten10, Teun Boekhout3, Peter K. Buchanan11, Treena I. Burgess12, Walter Buzina13, Lei Cai, Paul F. Cannon14, J. Leland Crane15, Ulrike Damm3, Heide Marie Daniel16, Anne D. van Diepeningen3, Irina S. Druzhinina17, Paul S. Dyer18, Ursula Eberhardt3, Jack W. Fell19, Jens Christian Frisvad20, David M. Geiser21, József Geml22, Chirlei Glienke23, Tom Gräfenhan24, Johannes Z. Groenewald3, Marizeth Groenewald3, Johannes de Gruyter25, Eveline Guého-Kellermann, Liang-Dong Guo, David S. Hibbett26, Seung-Beom Hong27, G. Sybren de Hoog2, Jos Houbraken3, Sabine M. Huhndorf28, Kevin D. Hyde, Ahmed Ismail3, Peter R. Johnston11, Duygu Göksay Kadaifciler29, Paul M. Kirk30, Urmas Kõljalg31, Cletus P. Kurtzman32, Paul Emile Lagneau, C. André Lévesque, Xingzhong Liu, Lorenzo Lombard3, Wieland Meyer15, Andrew N. Miller33, David W. Minter, Mohammad Javad Najafzadeh34, Lorelei L. Norvell, Svetlana Ozerskaya35, Rasime Ozic10, Shaun R. Pennycook11, Stephen W. Peterson32, Olga Vinnere Pettersson36, W. Quaedvlieg3, Vincent Robert3, Constantino Ruibal2, Johan Schnürer36, Hans Josef Schroers, Roger G. Shivas, Bernard Slippers5, Henk Spierenburg3, Masako Takashima, Evrim Taskin37, Marco Thines38, Ulf Thrane20, Alev Haliki Uztan6, Marcel van Raak25, János Varga39, Aida Vasco40, Gerard J.M. Verkley3, S.I.R. Videira3, Ronald P. de Vries3, Bevan S. Weir11, Neriman Yilmaz3, Andrey Yurkov9, Ning Zhang 
01 Jun 2011
TL;DR: The Amsterdam Declaration on Fungal Nomenclature recognizes the need for an orderly transitition to a single-name nomenclatural system for all fungi, and to provide mechanisms to protect names that otherwise then become endangered.
Abstract: The Amsterdam Declaration on Fungal Nomenclature was agreed at an international symposium convened in Amsterdam on 19–20 April 2011 under the auspices of the International Commission on the Taxonomy of Fungi (ICTF). The purpose of the symposium was to address the issue of whether or how the current system of naming pleomorphic fungi should be maintained or changed now that molecular data are routinely available. The issue is urgent as mycologists currently follow different practices, and no consensus was achieved by a Special Committee appointed in 2005 by the International Botanical Congress to advise on the problem. The Declaration recognizes the need for an orderly transitition to a single-name nomenclatural system for all fungi, and to provide mechanisms to protect names that otherwise then become endangered. That is, meaning that priority should be given to the first described name, except where that is a younger name in general use when the first author to select a name of a pleomorphic monophyletic genus is to be followed, and suggests controversial cases are referred to a body, such as the ICTF, which will report to the Committee for Fungi. If appropriate, the ICTF could be mandated to promote the implementation of the Declaration. In addition, but not forming part of the Declaration, are reports of discussions held during the symposium on the governance of the nomenclature of fungi, and the naming of fungi known only from an environmental nucleic acid sequence in particular. Possible amendments to the Draft BioCode (2011) to allow for the needs of mycologists are suggested for further consideration, and a possible example of how a fungus only known from the environment might be described is presented.

328 citations


Journal ArticleDOI
TL;DR: Analysis of three cancer-related miRNAs, miR-21, -141, and -221 in blood plasma of prostate cancer patients reveals varying patterns of these molecules in clinical subgroups of PCa.
Abstract: In addition to their potential as tissue-based markers for cancer classification and prognostication, the study of microRNAs (miRNAs) in blood circulation is also of interest. In the present study, we investigated the amounts of three cancer-related miRNAs, miR-21, -141, and -221 in blood plasma of prostate cancer (PCa) patients. A cohort of 51 patients with PCa was enrolled into the study, and miRNAs were measured in two subgroups, with localized/local advanced or metastatic PCa. A group of 20 healthy individuals served as the control group. miRNAs were quantified from the total RNA fraction using 200 μl plasma and the small RNA molecule RNU1A as a control for normalizing the miRNA amounts in circulation. We found similar levels of three miRNAs in healthy subjects with median values of 0.039, 0.033 and 0.04, respectively; (p = n.s.). In the patients, the miRNA levels were higher, with miR-21 being the highest (median, 1.51). The miR-221 levels were intermediate (median, 0.71) while the miR-141 displayed the lowest levels (median, 0.051). The differences between the control group and the patients were highly significant for the miR-21 (p < 0.001; area under the curve (AUC), 88%) and -221 (p < 0.001; AUC, 83%) but not for the miR-141 (p = 0.2). In patients diagnosed with metastatic PCa, levels of all three miRNAs were significantly higher than in patients with localized/local advanced disease where the difference for the miR-141 was most pronounced (p < 0.001; AUC, 75.5%). In conclusion, analysis of miR-21, -141, and -221 in blood of PCa patients reveals varying patterns of these molecules in clinical subgroups of PCa.

312 citations


Journal ArticleDOI
TL;DR: The main properties of enzymes from psychrophiles are described and some of their known biotechnological applications and ways to potentially improve their value for biotechnology are described.
Abstract: The bulk of the Earth's biosphere is cold (e.g. 90% of the ocean's waters are ≤ 5°C), sustaining a broad diversity of microbial life. The permanently cold environments vary from the deep ocean to alpine reaches and to polar regions. Commensurate with the extent and diversity of the ecosystems that harbour psychrophilic life, the functional capacity of the microorganisms that inhabitat the cold biosphere are equally diverse. As a result, indigenous psychrophilic microorganisms provide an enormous natural resource of enzymes that function effectively in the cold, and these cold-adapted enzymes have been targeted for their biotechnological potential. In this review we describe the main properties of enzymes from psychrophiles and describe some of their known biotechnological applications and ways to potentially improve their value for biotechnology. The review also covers the use of metagenomics for enzyme screening, the development of psychrophilic gene expression systems and the use of enzymes for cleaning.

290 citations


Journal ArticleDOI
TL;DR: A revised definition of dissociation is proposed for DSM‐5 and the implications of this definition for understanding dissociative symptoms and disorders are discussed.
Abstract: The rationale, research literature, and proposed changes to the dissociative disorders and conversion disorder in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) are presented. Dissociative identity disorder will include reference to possession as well as identity fragmentation, to make the disorder more applicable to culturally diverse situations. Dissociative amnesia will include dissociative fugue as a subtype, since fugue is a rare disorder that always involves amnesia but does not always include confused wandering or loss of personality identity. Depersonalization disorder will include derealization as well, since the two often co-occur. A dissociative subtype of posttraumatic stress disorder (PTSD), defined by the presence of depersonalization or derealization in addition to other PTSD symptoms, is being recommended, based upon new epidemiological and neuroimaging evidence linking it to an early life history of adversity and a combination of frontal activation ...

278 citations


Journal ArticleDOI
TL;DR: The warehouse selection problem, which is one of the main topics of logistics management that has a wide range of applications with multi-criteria decision making methodologies, is presented as a case study and how to choose the best warehouse location among many alternatives has been shown.
Abstract: For the solution of decision making problems with multi criteria, the literature presents many methodologies under the title of decision theory. In this context, AHP, TOPSIS, ELECTRE and Grey Theory are well-known and the most acceptable methodologies. Firstly, in this study; these methodologies are compared in terms of main characteristic of decision theory and thus advantages and disadvantages of these methodologies are offered. Later, the application of these methodologies on the warehouse selection problem, which is one of the main topics of logistics management that has a wide range of applications with multi-criteria decision making methodologies, is presented as a case study which is characterized in retail sector, that maintains high uncertainity and product variety and then how to choose the best warehouse location among many alternatives has been shown.

275 citations


Journal ArticleDOI
TL;DR: The principle materials and techniques of cranioplasty are reviewed and there is still no consensus about the best material.
Abstract: Cranioplasty is the surgical intervention to repair cranial defects. The aim of cranioplasty is not only a cosmetic issue; also, the repair of cranial defects gives relief to psychological drawbacks and increases the social performances. Many different types of materials were used throughout the history of cranioplasty. With the evolving biomedical technology, new materials are available to be used by the surgeons. Although many different materials and techniques had been described, there is still no consensus about the best material, and ongoing researches on both biologic and nonbiologic substitutions continue aiming to develop the ideal reconstruction materials. In this article, the principle materials and techniques of cranioplasty are reviewed.

Journal ArticleDOI
TL;DR: Evidence is provided of a role of Myo1E in podocyte function and the consequent integrity of the glomerular filtration barrier and of the glucocorticoid-resistant focal segmental glomerulosclerosis.
Abstract: A B S T R AC T Background Focal segmental glomerulosclerosis is a kidney disease that is manifested as the nephrotic syndrome. It is often resistant to glucocorticoid therapy and progresses to endstage renal disease in 50 to 70% of patients. Genetic studies have shown that familial focal segmental glomerulosclerosis is a disease of the podocytes, which are major components of the glomerular filtration barrier. However, the molecular cause in over half the cases of primary focal segmental glomerulosclerosis is unknown, and effective treatments have been elusive. Methods We performed whole-genome linkage analysis followed by high-throughput sequencing of the positive-linkage area in a family with autosomal recessive focal segmental glomerulosclerosis (index family) and sequenced a newly discovered gene in 52 unrelated patients with focal segmental glomerulosclerosis. Immunohistochemical studies were performed on human kidney-biopsy specimens and cultured podocytes. Expression studies in vitro were performed to characterize the functional consequences of the mutations identified. Results We identified two mutations (A159P and Y695X) in MYO1E, which encodes a nonmuscle class I myosin, myosin 1E (Myo1E). The mutations in MYO1E segregated with focal segmental glomerulosclerosis in two independent pedigrees (the index family and Family 2). Patients were homozygous for the mutations and did not have a response to glucocorticoid therapy. Electron microscopy showed thickening and disorganization of the glomerular basement membrane. Normal expression of Myo1E was documented in control human kidney-biopsy specimens in vivo and in glomerular podocytes in vitro. Transfection studies revealed abnormal subcellular localization and function of the A159P-Myo1E mutant. The Y695X mutation causes loss of calmodulin binding and of the tail domains of Myo1E. Conclusions MYO1E mutations are associated with childhood-onset, glucocorticoid-resistant focal segmental glomerulosclerosis. Our data provide evidence of a role of Myo1E in podocyte function and the consequent integrity of the glomerular filtration barrier.

Journal ArticleDOI
TL;DR: It is shown that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation.
Abstract: Functional impairment of DNA damage response pathways leads to increased genomic instability. Here we describe the centrosomal protein CEP152 as a new regulator of genomic integrity and cellular response to DNA damage. Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation.

Journal ArticleDOI
TL;DR: In this paper, physical, mechanical, and flammability properties of polypropylene (PP) composite panels were evaluated and the results suggest that an optimal composite panel formulation for automotive interior applications is a mixture of 60 wt % coir fiber, 37 Wt % PP powder, and 3 WT % maleic anhydride grafted PP powder.
Abstract: In this study, physical, mechanical, and flammability properties of coconut fiber reinforced polypropylene (PP) composite panels were evaluated. Four levels of the coir fiber content (40, 50, 60, and 70 % based on the composition by weight) were mixed with the PP powder and a coupling agent, 3 wt % maleic anhydride grafted PP (MAPP) powder. The water resistance and the internal bond strength of the composites were negatively influenced by increasing coir fiber content. However, the flexural strength, the tensile strength, and the hardness of the composites improved with increasing the coir fiber content up to 60 wt %. The flame retardancy of the composites improved with increasing coir fiber content. The results suggest that an optimal composite panel formulation for automotive interior applications is a mixture of 60 wt % coir fiber, 37 wt % PP powder, and 3 wt % MAPP.

Journal ArticleDOI
TL;DR: In this article, the optimum parameters of tuned mass dampers (TMD) are proposed under seismic excitations, and a Matlab program is developed for numerical optimization and time domain simulation.


Journal ArticleDOI
TL;DR: The prevalence of CKD in Turkey is 15.7%; it was higher in women than men (18.4% vs. 12.8%, P < 0.001) and increased with increasing age of the subjects, and cardiovascular risk factors were significantly more prevalent in CKD patients.
Abstract: Background. Chronic kidney disease (CKD) is a growing health problem worldwide that leads to end-stage kidney failure and cardiovascular complications. We aimed to determine the prevalence of CKD in Turkey, and to evaluate relationships between CKD and cardiovascular risk factors in a population-based survey. Methods. Medical data were collected through home visits and interviews. Serum creatinine, blood glucose, total cholesterol, triglycerides, HDL, LDL and uric acid were determined from 12-h fasting blood samples, and spot urine tests were performed for subjects who gave consent to laboratory evaluation. Results. A total of 10 872 participants were included in the study. The final analysis was performed on 10 748 subjects (mean age 40.5 ± 16.3 years; 55.7% women) and excluded 124 pregnant women. A low glomerular filtration rate (GFR) (< 60 mL/min/1.73 m2) was present in 5.2% of the subjects who were evaluated for GFR, while microalbuminuria and macroalbuminuria were observed in 10.2% and 2% of the subjects, respectively. The presence of CKD was assessed in subjects who gave consent for urinary albumin excretion measurement (n = 8765). The overall prevalence of CKD was 15.7%; it was higher in women than men (18.4% vs. 12.8%, P < 0.001) and increased with increasing age of the subjects. The prevalence of hypertension (32.7% in the general population), diabetes (12.7%), dyslipidaemia (76.3%), obesity (20.1%) and metabolic syndrome (31.3%) was significantly higher in subjects with CKD than subjects without CKD (P < 0.001 for all). Conclusions. The prevalence of CKD in Turkey is 15.7%. Cardiovascular risk factors were significantly more prevalent in CKD patients.

Journal ArticleDOI
TL;DR: To a large extent, the human infant is socialized through the acquisition of a specific cognitive mechanism known as theory of mind (ToM), a term which is currently used to explain a related set of intellectual abilities that enable us to understand that others have beliefs, desires, plans, hopes, information, and intentions that may differ from the authors' own.
Abstract: To a large extent, the human infant is socialized through the acquisition of a specific cognitive mechanism known as theory of mind (ToM), a term which is currently used to explain a related set of intellectual abilities that enable us to understand that others have beliefs, desires, plans, hopes, information, and intentions that may differ from our own. Various neurodevelopmental disorders, such as autism spectrum disorders, attention deficit hyperactivity disorder, developmental language disorders, and schizophrenia, as well as acquired disorders of the right brain (and traumatic brain injury) impair ToM. ToM is a composite function, which involves memory, joint attention, complex perceptual recognition (such as face and gaze processing), language, executive functions (such as tracking of intentions and goals and moral reasoning), emotion processing-recognition, empathy, and imitation. Hence, ToM development is dependent on the maturation of several brain systems and is shaped by parenting, social relations, training, and education; thus, it is an example of the dense interaction that occurs between brain development and (social) environment.

Journal ArticleDOI
TL;DR: Subcutaneous canakinumab 150 mg every 8 weeks was well tolerated and provided substantial disease control in children and adults across all CAPS phenotypes.
Abstract: Objective Longer-term effects of prolonged selective interleukin-1β blockade with canakinumab were evaluated in the largest cohort of cryopyrin-associated periodic syndrome (CAPS) patients studied to date. Methods Adult and paediatric CAPS patients (n=166, including canakinumab-naive and pretreated patients from previous studies) received canakinumab subcutaneously 150 mg or 2 mg/kg (≤40 kg) every 8 weeks for up to 2 years. Response and relapse was assessed using scores for disease activity, skin rash and C-reactive protein (CRP) and/or serum amyloid A (SAA) levels. Results Complete response was achieved in 85 of 109 canakinumab-naive patients (78%; 79/85 patients within 8 days, and five patients between days 10 and 21). Of 141 patients with an available relapse assessment, 90% did not relapse, their CRP/SAA levels normalised ( Conclusions Subcutaneous canakinumab 150 mg every 8 weeks was well tolerated and provided substantial disease control in children and adults across all CAPS phenotypes. Higher canakinumab doses in younger patients and more severe CAPS disease were efficacious in achieving complete responses without evidence of increased AE. Trial registration number: NCT00685373 (clinicaltrials.gov)

Journal ArticleDOI
TL;DR: Results show that the combination of the features derived from cross correlation and PSD is very promising in discriminating between epileptic and healthy EEG segments.
Abstract: Epilepsy is a neurological disorder that causes people to have seizures and the main application field of electroencephalography. In this study, combined time and frequency features approach for the classification of healthy and epileptic electroencephalogram (EEG) signals is proposed. Features in the time domain are extracted using the cross correlation (CC) method. Features related to the frequency domain are extracted by calculating the power spectral density (PSD). In the study, these individual time and frequency features are considered to carry complementary information about the nature of the EEG itself. By using divergence analysis, distributions of the feature vectors in the feature space are quantitatively measured. As a result, using the combination rather than individual feature vectors is suggested for classification. In order to show the efficiency of this approach, first of all, the classification performances of the time and frequency based feature vectors in terms of overall accuracy are analyzed individually. Afterwards, the feature vectors obtained by the combination of the individual feature vectors are used in classification. The results achieved by different classifier structures are given. Obtained performances in the study are comparatively evaluated by the help of the other studies for the same dataset in advance. Results show that the combination of the features derived from cross correlation and PSD is very promising in discriminating between epileptic and healthy EEG segments.

Journal ArticleDOI
TL;DR: This cohort of patients showed a higher mortality rate than nonneurologic patients despite a lower incidence of extracerebral organ dysfunction, and patients with neurologic disease developed fewer complications over the course of mechanical ventilation with the exception of a higher rate of ventilator-associated pneumonia in the brain trauma cohort.
Abstract: Objective:To describe and compare characteristics, ventilatory practices, and associated outcomes among mechanically ventilated patients with different types of brain injury and between neurologic and nonneurologic patients.Design:Secondary analysis of a prospective, observational, and multicenter s

Journal ArticleDOI
TL;DR: The first direct measurements of gas (CH 4, CO 2 ) flux on onshore ophiolites with present-day serpentinization were reported in this article, with fluxes from 0.07 to 1.07 g/m − 2 ǫd − 1.

Journal ArticleDOI
TL;DR: The results showed that the Aβ triggers neurodegeneration not only by inducing LVSCC A1C expression and NGF levels and but also by dramatically suppressing VDR expression, and vitamin D brought NGF expression to a state of equilibrium and did not show its apoptosis inducing effects.
Abstract: Amyloid-β (Aβ) is the core component of amyloid plaques of Alzheimer's disease (AD). The effects of Aβ include damage to neuronal plasma membrane, disruption of Ca(2+) homeostasis, and alterations of neurotrophic factor levels. The aim of this study was to determine the effects of Aβ treatment on vitamin D receptor (VDR), L-type voltage sensitive calcium channels A1C (LVSCC A1C), NGF, and observing the effects of vitamin D treatment on Aβ induced alterations in primary cortical neurons. As to the latter, we aimed to test the suggested neuroprotective role of vitamin D as a neglected neurosteroid. The expressions of VDR and LVSCC A1C were studied with qRT-PCR and Western blotting. NGF and cytotoxicity levels were determined by ELISA. Apoptotic cell death was investigated with caspase-3 protein expression by Western blotting. Our results showed that the Aβ triggers neurodegeneration not only by inducing LVSCC A1C expression and NGF levels and but also by dramatically suppressing VDR expression. Administration of vitamin D to this model protected neurons by preventing cytotoxicity and apoptosis, and also by downregulating LVSCC A1C and upregulating VDR. Additionally, vitamin D brought NGF expression to a state of equilibrium and did not show its apoptosis inducing effects. Consequently, prevention of Aβ toxicity which was one of the major component of AD type pathology by vitamin D treatment and understanding how Aβ effects vitamin D related pathways, might open up new frontiers in clarifying molecular mechanisms of neurodegeneration and provide basis for novel perspectives in both preventing and treating AD.

Journal ArticleDOI
TL;DR: In this paper, the adsorption capacity of Saklikent mud as low-cost adsorbent, for the removal of hazardous dye, Brilliant Green, from aqueous solution was studied.

Journal ArticleDOI
TL;DR: Key aspects thatShould be reported, common definitions that should be adopted and certain standard policies that should been adhered to when performing a minimally invasive resection of a thymic malignancy are identified.

Journal ArticleDOI
TL;DR: In this paper, a sample of 82850 stars from the RAVE survey, with well-determined velocities and stellar parameters, was analyzed to isolate the high-probability thin-disc dwarfs within 600 pc of the Sun.
Abstract: We analyze a sample of 82850 stars from the RAVE survey, with well-determined velocities and stellar parameters, to isolate a sample of 18026 high-probability thin-disc dwarfs within 600 pc of the Sun. We derive space motions for these stars, and deduce the solar space velocity with respect to the Local Standard of Rest. The peculiar solar

Journal ArticleDOI
TL;DR: It was concluded that the locator system showed superior clinical results than the ball and the bar attachments, with regard to the rate of prosthodontic complications and the maintenance of the oral function.
Abstract: Background: The purpose of this clinical study was to evaluate the complications associated with the different attachments used in implant-supported overdentures, including prosthetic problems and implant failures. A comparison of ball, bar and Locator (Zest Anchors, Inc, homepage, Escondido, CA, USA) attachments, in completely edentulous patients with two, three or four implants, was conducted. Material and methods: A total of 36 edentulous patients (20 female, 16 male) with a mean age of 66.3 years, were enrolled in the study. The patients were treated with 95 implants, for the prosthetic restoration of the maxilla or the mandible. The mean follow-up time was 41.17 months. Prosthetic complications including, fractured overdentures, replacements of O-ring attachment and retention clips, implant failures, hygiene problems, mucosal enlargements, attachment fractures, retention loss and dislodgement of the attachments were recorded and evaluated. The recall visits at 3, 6, 12 months and, annually thereafter. Results: Fourteen complications in the ball attachment group and 7 complications in the bar group were observed. No complications were observed in the locator group. The difference was found to be as statistically significant (p=0,009). Six of the 95 implants had failed. Totally 39 implant overdentures were applied. Three prostheses were renewed because of fractures. Conclusion: Within the limits of the present study, it was concluded that the locator system showed superior clinical results than the ball and the bar attachments, with regard to the rate of prosthodontic complications and the maintenance of the oral function.

Journal ArticleDOI
TL;DR: The guidelines for the management of spontaneous preterm labor also take into consideration the diagnostic marker insulin-like growth factor binding protein-1 (IGFBP-1) that I have worked with since the early 80s, but some errors and points that may be misleading are brought to the readers’ attention.
Abstract: These guidelines are based upon most recent and updated evidence and they are adapted to an European problematic by an expert view of the problem. These guidelines are not intended to be a meta-analysis or a systematic review. They follow the previous guidelines published in 2006 [1].

Journal ArticleDOI
01 Jan 2011-Thorax
TL;DR: Obese patients were more likely to have significant complications but there were no associations with increased mortality, and obese patients were less likely to receive low tidal volume based on actual body weight but high volumes based on predicted body weight.
Abstract: Background There are limited data on the impact of body mass index on outcomes in mechanically ventilated patients. Methods Secondary analysis of a cohort including 4698 patients mechanically ventilated. Patients were screened daily for management of mechanical ventilation, complications (acute respiratory distress syndrome, sepsis, ventilator associated pneumonia, barotrauma), organ failure (cardiovascular, respiratory, renal, hepatic, haematological) and mortality in the intensive care unit. To estimate the impact of body mass index on acute respiratory distress syndrome and mortality, the authors constructed models using generalised estimating equations (GEE). Results Patients were evaluated based on their body mass index: 184 patients (3.7%) were underweight, 1995 patients (40%) normal weight, 1781 patients (35.8%) overweight, 792 patients (15.9%) obese and 216 patients (4.3%) severely obese. Severely obese patients were more likely to receive low tidal volume based on actual body weight but high volumes based on predicted body weight. In obese patients, the authors observed a higher incidence of acute respiratory distress syndrome and acute renal failure. After adjustment, the body mass index was significantly associated with the development of acute respiratory distress syndrome: compared with normal weight; OR 1.69 (95% CI 1.07 to 2.69) for obese and OR 2.38 (95% CI 1.15 to 4.89) for severely obese. There were no differences in outcomes (duration of mechanical ventilation, length of stay and mortality in intensive care unit and hospital) based on body mass index categories. Conclusions In this cohort, obese patients were more likely to have significant complications but there were no associations with increased mortality.

Journal ArticleDOI
TL;DR: Examining human and mouse embryonic brains, it is determined that NDE1 is highly expressed in neuroepithelial cells of the developing cerebral cortex, particularly at the centrosome, and it is shown that NDI accumulates on the mitotic spindle of apical neural precursors in early neurogenesis.
Abstract: We investigated three families whose offspring had extreme microcephaly at birth and profound mental retardation. Brain scans and postmortem data showed that affected individuals had brains less than 10% of expected size (≤10 standard deviation) and that in addition to a massive reduction in neuron production they displayed partially deficient cortical lamination (microlissencephaly). Other body systems were apparently unaffected and overall growth was normal. We found two distinct homozygous mutations of NDE1, c.83+1G>T (p.Ala29GlnfsX114) in a Turkish family and c.684_685del (p.Pro229TrpfsX85) in two families of Pakistani origin. Using patient cells, we found that c.83+1G>T led to the use of a novel splice site and to a frameshift after NDE1 exon 2. Transfection of tagged NDE1 constructs showed that the c.684_685del mutation resulted in a NDE1 that was unable to localize to the centrosome. By staining a patient-derived cell line that carried the c.83+1G>T mutation, we found that this endogeneously expressed mutated protein equally failed to localize to the centrosome. By examining human and mouse embryonic brains, we determined that NDE1 is highly expressed in neuroepithelial cells of the developing cerebral cortex, particularly at the centrosome. We show that NDE1 accumulates on the mitotic spindle of apical neural precursors in early neurogenesis. Thus, NDE1 deficiency causes both a severe failure of neurogenesis and a deficiency in cortical lamination. Our data further highlight the importance of the centrosome in multiple aspects of neurodevelopment.