Institution
Istanbul University
Education•Istanbul, Turkey•
About: Istanbul University is a education organization based out in Istanbul, Turkey. It is known for research contribution in the topics: Population & Medicine. The organization has 19050 authors who have published 38464 publications receiving 727640 citations. The organization is also known as: İstanbul Üniversitesi & University of Istanbul.
Topics: Population, Medicine, Cancer, Breast cancer, Diabetes mellitus
Papers published on a yearly basis
Papers
More filters
••
TL;DR: The reference cut-off values for muscle mass, muscle strength and calf circumference in Turkey were defined to improve general applicability of EWGSOP criteria and were somewhat higher but comparable with other reference populations.
254 citations
••
TL;DR: In contrast, Ror2−/− mice have a short-limbed phenotype that is more reminiscent of the mesomelic shortening observed in RRS, and several homozygous ROR2 mutations in this cohort of RRS patients are located upstream from those previously found in BDB.
Abstract: Robinow syndrome is a short-limbed dwarfism characterized by abnormal morphogenesis of the face and external genitalia, and vertebral segmentation. The recessive form of Robinow syndrome (RRS; OMIM 268310), particularly frequent in Turkey, has a high incidence of abnormalities of the vertebral column such as hemivertebrae and rib fusions, which is not seen in the dominant form. Some patients have cardiac malformations or facial clefting. We have mapped a gene for RRS to 9q21-q23 in 11 families. Haplotype sharing was observed between three families from Turkey, which localized the gene to a 4. 9-cM interval. The gene ROR2, which encodes an orphan membrane-bound tyrosine kinase, maps to this region. Heterozygous (presumed gain of function) mutations in ROR2 were previously shown to cause dominant brachydactyly type B (BDB; ref. 7). In contrast, Ror2-/- mice have a short-limbed phenotype that is more reminiscent of the mesomelic shortening observed in RRS. We detected several homozygous ROR2 mutations in our cohort of RRS patients that are located upstream from those previously found in BDB. The ROR2 mutations present in RRS result in premature stop codons and predict nonfunctional proteins.
254 citations
••
Maastricht University1, Utrecht University2, Cardiff University3, Dokuz Eylül University4, Adnan Menderes University5, Ankara University6, Middle East Technical University7, University of Valencia8, University of Castilla–La Mancha9, University of Santiago de Compostela10, Complutense University of Madrid11, Istanbul University12, King's College London13
TL;DR: The association between white noise speech illusions and familial risk is contingent on additional evidence of endophenotypic expression and of exposure to childhood adversity, and speech illusions may represent a trait-dependent risk marker.
Abstract: Introduction: White noise speech illusions index liability for psychotic disorder in case– control comparisons. In the current study, we examined i) the rate of white noise speech illusions in siblings of patients with psychotic disorder and ii) to what degree this rate would be contingent on exposure to known environmental risk factors (childhood adversity and recent life events) and level of known endophenotypic dimensions of psychotic disorder [psychotic experiences assessed with the Community Assessment of Psychic Experiences (CAPE) scale and cognitive ability]. Methods: The white noise task was used as an experimental paradigm to elicit and measure speech illusions in 1,014 patients with psychotic disorders, 1,157 siblings, and 1,507 healthy participants. We examined associations between speech illusions and increasing familial risk (control-> sibling-> patient), modeled as both a linear and a categorical effect, and associations between speech illusions and level of childhood adversities and life events as well as with CAPE scores and cognitive ability scores. Results: While a positive association was found between white noise speech illusions across hypothesized increasing levels of familial risk (controls-> siblings-> patients) [odds ratio (OR) linear 1.11, 95% confidence interval (CI) 1.02–1.21, p = 0.019], there was no evidence for a categorical association with sibling status (OR 0.93, 95% CI 0.79–1.09, p = 0.360). The association between speech illusions and linear familial risk was greater if scores on the CAPE positive scale were higher (p interaction = 0.003; ORlow CAPE positive scale 0.96, 95% CI 0.85–1.07; ORhigh CAPE positive scale 1.26, 95% CI 1.09–1.46); cognitive ability was lower (p interaction < 0.001; ORhigh cognitive ability 0.94, 95% CI 0.84–1.05; ORlow cognitive ability 1.43, 95% CI 1.23–1.68); and exposure to childhood adversity was higher (p interaction < 0.001; ORlow adversity 0.92, 95% CI 0.82–1.04; ORhigh adversity 1.31, 95% CI 1.13–1.52). A similar, although less marked, pattern was seen for categorical patient– control and sibling–control comparisons. Exposure to recent life events did not modify the association between white noise and familial risk (p interaction = 0.232). Conclusion: The association between white noise speech illusions and familial risk is contingent on additional evidence of endophenotypic expression and of exposure to childhood adversity. Therefore, speech illusions may represent a trait-dependent risk marker.
253 citations
••
TL;DR: The role of the thymus is still obscure in MG defined by antibodies against the agrin receptor LRP4 and in MG without all of the above autoantibdies (triple sero-negative MG) since these MG subtypes have been described only recently and thymectomy has been their standard treatment.
252 citations
••
TL;DR: Two major neurological diagnoses in Behçet's disease are NBS and VST, distinct in clinical, radiological, and prognostic aspects, hence suggesting a difference in pathogenesis.
Abstract: This study was conducted to describe clinical and prognostic aspects of neurological involvement in Behcet's disease (BD). Patients referred for neurological evaluation fulfilled the criteria of the International Study Group for Behcet's Disease. We analyzed disability and survival by the Kaplan-Meier method, using Kurtzke's Extended Disability Status Scale (modified for BD) and the prognostic effect of demographic and clinical factors by Cox regression analysis. We studied 164 patients; of the 107 diagnostic neuroimaging studies: 72.1% showed parenchymal involvement, 11.7% venous sinus thrombosis (VST) and the others were normal. CSF studies were performed in 47 patients; all with inflammatory CSF findings (n=18) had parenchymal involvement. An isolated increase in pressure was compatible with either VST or normal imaging. The final diagnoses were VST (12.2%), neuro-Behcet's syndrome (NBS) (75.6%), isolated optic neuritis (0.6%), psycho-Behcet's syndrome (0.6%), and indefinite (11%). VST and NBS were never diagnosed together. Ten years from onset of BD 45.1% (all NBS) reached a disability level of EDSS 6 or higher, and 95.7±2.1% of the patients were still alive. Having accompanying cerebellar symptoms at onset or a progressive course is unfavorable. Onset with headache or a diagnosis of VST is favorable. Two major neurological diagnoses in BD are NBS and VST. These are distinct in clinical, radiological, and prognostic aspects, hence suggesting a difference in pathogenesis.
252 citations
Authors
Showing all 19361 results
Name | H-index | Papers | Citations |
---|---|---|---|
Bobby Samir Acharya | 133 | 1121 | 100545 |
Serkant Ali Cetin | 129 | 1369 | 85175 |
Alexander Nikitenko | 129 | 1159 | 82102 |
Aytul Adiguzel | 124 | 964 | 71366 |
Neil Risch | 122 | 386 | 70042 |
Laurent Poirel | 117 | 621 | 53680 |
Andrei Starodumov | 114 | 697 | 57900 |
Suat Ozkorucuklu | 110 | 698 | 55607 |
Robert J. Desnick | 102 | 694 | 39698 |
Lars Berglund | 97 | 641 | 42300 |
Angel Carracedo | 88 | 885 | 38053 |
Peter A. Merkel | 85 | 430 | 34014 |
Thomas A. Pearson | 84 | 349 | 41573 |
Willy Malaisse | 80 | 1635 | 31641 |
C. Pagliarone | 79 | 796 | 27164 |