High-throughput mutational analysis of TOR1A in primary dystonia

<p>Abstract</p> <p>Background</p> <p>Although the c.904_906delGAG mutation in Exon 5 of <it>TOR1A </it>typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous. Recently, another Exon 5 mutation (c.863G>A) has been associated with early-onset generalized dystonia and some ΔGAG mutation carriers present with late-onset focal dystonia. The aim of this study was to identify <it>TOR1A </it>Exon 5 mutations in a large cohort of subjects with mainly non-generalized primary dystonia.</p> <p>Methods</p> <p>High resolution melting (HRM) was used to examine the entire <it>TOR1A </it>Exon 5 coding sequence in 1014 subjects with primary dystonia (422 spasmodic dysphonia, 285 cervical dystonia, 67 blepharospasm, 41 writer's cramp, 16 oromandibular dystonia, 38 other primary focal dystonia, 112 segmental dystonia, 16 multifocal dystonia, and 17 generalized dystonia) and 250 controls (150 neurologically normal and 100 with other movement disorders). Diagnostic sensitivity and specificity were evaluated in an additional 8 subjects with known ΔGAG DYT1 dystonia and 88 subjects with ΔGAG-negative dystonia.</p> <p>Results</p> <p>HRM of <it>TOR1A </it>Exon 5 showed high (100%) diagnostic sensitivity and specificity. HRM was rapid and economical. HRM reliably differentiated the <it>TOR1A </it>ΔGAG and c.863G>A mutations. Melting curves were normal in 250/250 controls and 1012/1014 subjects with primary dystonia. The two subjects with shifted melting curves were found to harbor the classic ΔGAG deletion: 1) a non-Jewish Caucasian female with childhood-onset multifocal dystonia and 2) an Ashkenazi Jewish female with adolescent-onset spasmodic dysphonia.</p> <p>Conclusion</p> <p>First, HRM is an inexpensive, diagnostically sensitive and specific, high-throughput method for mutation discovery. Second, Exon 5 mutations in <it>TOR1A </it>are rarely associated with non-generalized primary dystonia.</p

Global cardiometabolic risk profile in patients with hypertension: Results from the Turkish arm of the pan-European GOOD survey

PubMed ID: 21200100Objectives: We evaluated the results of the Turkish arm of the GOOD survey which investigated the cardiometabolic risk profile and the control of blood pressure (BP) of adult hypertensive outpatients in 12 countries across Europe. Study design: A total of 218 hypertensive patients (139 females, 79 males; mean age 57.2±10.9 years) from Turkey were included in this pan-European survey. Blood pressure control (defined as BP <140/90 mmHg for nondiabetics and <130/80 mmHg for diabetics) and cardiometabolic risk factors such as diabetes mellitus, metabolic syndrome, obesity, sedentary lifestyle, and atherogenic dyslipidemia were evaluated in accordance with the 2003 ESH/ESC guidelines on management of hypertension. Results: Control of BP was achieved in only 21.6% of the patients diagnosed with hypertension for a mean duration of 7.7±5.4 years. The mean systolic and diastolic BPs were 144±21 mmHg and 88±14 mmHg, respectively. The most frequent concomitant disease was type 2 diabetes mellitus (66 patients, 30.3%). Patients with diabetes had a higher prevalence of metabolic syndrome compared to nondiabetics (78.8% vs. 48%, p<0.01). The absence of BP control was more pronounced among diabetics than in nondiabetics for systolic (77.3% vs. 63.8%) and diastolic (84.9% vs. 57.2%) pressures. Nearly half of the hypertensive patients had atherogenic dyslipidemia, but only 35.8% of them were treated with lipid lowering drugs. Conclusion: Despite appropriate treatment, poor BP control in Turkish hypertensive patients was associated with metabolic syndrome, diabetes, and undertreatment of atherogenic dyslipidemia. Therefore, more effective measures must be taken in the management of cardiovascular risk factors to improve BP control

Toughness of 2,25Cr-1Mo steel and weld metal

4th International Conference on the Advancement of Materials and Nanotechnology, ICAMN 2016 -- 9 November 2016 through 11 November 2016 -- -- 1305922,25Cr-1Mo steel is extensively used at elevated temperature structural applications in fossil fire power plants for steam pipes, nozzle chambers and petrochemical industry for hydrocracking unit due to its excellent creep resistance and good redundant to oxidation. Also they should have acceptable weldability and toughness. The steels are supplied in quenched and tempered condition and their welded components are subjected to post-weld heat treatment (PWHT). Tempering process is carried out at 690-710°C to improve toughness properties. However they are sensitive to reheat cracking and temper embrittlement. To measure temper embrittlement of the steels and their weld metal, temper embrittlement factor and formula (J factor - Watanabe and X formula- Bruscato) are used. Step cooling heat treatment is also applied to determine temper embrittlement. In this study, toughness properties of Cr Mo (W) steels were reviewed. Also transition temperature curves of 2,25Cr-1Mo steel and its weld metal were constructed before and after step cool heat treatment as experimental study. While 2,25Cr-1Mo steel as base metal was supplied, all weld metal samples were produced in Gedik Welding Company. Hardness measurements and microstructure evaluation were also carried out. © 2017 Author(s)