9 research outputs found
Evaluation of the modern submarine landscape off southwestern Turkey through the documentation of ancient shipwreck sites
The issue of damage to shipwreck sites caused by the operation of mobile fishing gear has only recently begun to be addressed by the archaeological community. However, the nature, extent, and intensity of this damage has yet to be quantified. Acoustic and video surveys conducted between 2008 and 2010 located and imaged sixteen ancient shipwrecks around the Bodrum and Datça Peninsulas, Turkey, many of which were heavily damaged by trawling activity. The results of this research illustrate the unfortunate reality that many wreck sites in the Aegean Sea are heavily damaged by modern fishing activities. Quantifying the extent and intensity of trawl scars on the seabed further reveals the geographic spread of damage in these areas. The results of these mapping projects call attention to the dismantling of cultural sites by the use of mobile fishing gear on the seabed. By comparing the number of broken artifacts on these wreck sites to other sites that have escaped the effects of trawling, such as those in the Black Sea, we see that shipwrecks that are or were at one time in areas of trawling activity show a considerable amount of damage. The location and condition of these wreck sites helps map and quantify past and recent trawling activity, and pinpoint areas on the shallow coastal shelf where additional trawling restrictions or protected zones may be able to help the preservation of archaeological material. © 2012 Elsevier Ltd
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study (vol 39, pg 911, 2019)
The second affiliation of the corresponding author Eda Tahir Turanlı was incorrectly published as İstanbul Medeniyet University instead of Istanbul Technical University. © 2019, Springer-Verlag GmbH Germany, part of Springer Nature
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study
Systemic autoinflammatory diseases (sAIDs) are a heterogeneous group of disorders, having monogenic inherited forms with overlapping clinical manifestations. More than half of patients do not carry any pathogenic variant in formerly associated disease genes. Here, we report a cross-sectional study on targeted Next-Generation Sequencing (NGS) screening in patients with suspected sAIDs to determine the diagnostic utility of genetic screening. Fifteen autoinflammation/immune-related genes (ADA2-CARD14-IL10RA-LPIN2-MEFV-MVK-NLRC4-NLRP12-NLRP3-NOD2-PLCG2-PSTPIP1-SLC29A3-TMEM173-TNFRSF1A) were used to screen 196 subjects from adult/pediatric clinics, each with an initial clinical suspicion of one or more sAID diagnosis with the exclusion of typical familial Mediterranean fever (FMF) patients. Following the genetic screening, 140 patients (71.4%) were clinically followed-up and re-evaluated. Fifty rare variants in 41 patients (20.9%) were classified as pathogenic or likely pathogenic and 32 of those variants were located on the MEFV gene. We detected pathogenic or likely pathogenic variants compatible with the final diagnoses and inheritance patterns in 14/140 (10%) of patients for the following sAIDs: familial Mediterranean fever (n=7), deficiency of adenosine deaminase 2 (n=2), mevalonate kinase deficiency (n=2), Muckle-Wells syndrome (n=1), Majeed syndrome (n=1), and STING-associated vasculopathy with onset in infancy (n=1). Targeted NGS panels have impact on diagnosing rare monogenic sAIDs for a group of patients. We suggest that MEFV gene screening should be first-tier genetic testing especially in regions with high carrier rates. Clinical utility of multi-gene testing in sAIDs was as low as expected, but extensive genome-wide familial analyses in combination with exome screening would enlighten additional genetic factors causing disease