165 results on '"TEKİN, Mustafa"'
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2. Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review.
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Peart, LéShon and Tekin, Mustafa
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HEARING disorder diagnosis , *TREATMENT of hearing disorders , *MEDICAL technology , *SYSTEMATIC reviews , *MEDLINE , *RURAL conditions , *HEARING disorders , *ONLINE information services - Abstract
The Caribbean region has a diverse population of about 40 million people, spread over 13 sovereign states. This review aims to describe the existing studies on hereditary hearing loss (HL) in the Caribbean population. We systematically reviewed scientific articles on HL prevalence, genetic causes, technology use, and environmental effects in Caribbean nations and the Caribbean diaspora in the United States. Key findings show that HL rates, with diverse genetic variables, vary across Puerto Rico, Cuba, and the Dominican Republic. Local resources and technology have been used to diagnose HL, particularly in rural areas. Environmental factors tend to affect HL prevalence in various regions. This literature review of Caribbean-focused studies helps guide future research and healthcare strategies, particularly concerning genetic drift caused by migration to the United States. Understanding these factors can help diagnose and treat HL in America's diverse population. [ABSTRACT FROM AUTHOR]
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- 2024
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3. Postmodern Dinsellikler.
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Tekin, Mustafa
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RELIGIOUS experience , *SUBJECTIVITY , *SOCIOLOGY - Abstract
We live in a world evolving into postmodernity. Although it is intertwined with modernity, many manifestations of postmodernity can be observed in this period. Modernity took more rigid attitudes towards religion. This situation showed itself in the last century with practices such as the ability of religions. To continue their excistence through modern discourse on the one hand, and removing religion from the public sphere on the other. Elements of modernity, which has been criticized in all respects, are tried to be resolved with the postmodern mentality. Although postmodernity puts an end to the old totalitarian attitudes, it continues to perveive religion in a secular way and furthermore continues on its way by destroying the originality and nature of religion. In fact, this can be defined is emptying religion. This article aims to analyze with examples what kind of religiosity the postmoddrn approach envisages. It is discussed how postmodernity creats a form of religiosity in creed, worship and daily life. Although the attitude towards religion becomes more flexible in the postmodern period, it is observed that religion has lost its former aouthority and integrity. In this context, the God-Human relationship also seems to have changed. [ABSTRACT FROM AUTHOR]
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- 2023
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4. Effects of cross-linked polyethylene (XLPE) conductors in medium voltage power grids and load analysis.
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Tekin, Mustafa and Solmaz, Ramazan
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ELECTRIC power distribution grids , *ARTIFICIAL intelligence , *MICROGRIDS , *WORKING hours , *VOLTAGE , *ELECTRIC power consumption - Abstract
• Capacitive effect of XLPE conductors in microgrids. • Contribution of XLPE conductors to the Ferranti Effect in microgrids. • Modeling of medium voltage microgrids with Ferranti effect in Matlab/Simulink environment. • Load forecasting in microgrids having variable load characteristics. This study discusses the problems occurring in a microgrid established with XLPE conductors. The use of XLPE in electric grids has increased, causing problems such as voltage rise that leads to breakdowns in high-voltage equipment, increased capacitive power, and harmonic distortion. The Ferranti Effect also occurs, especially in these grids with no-load or low-load situations. Power demand in such microgrids varies depending on working days, holidays, and seasons. It is important to understand such grids' behavior and dynamic power demands for the continuity and quality of energy. Firstly, the grid was modeled in the Matlab/Simulink environment, and end-of-line and beginning-of-line voltages were simulated for three different load cases and compared with the measured grid parameters. Then, artificial intelligence-supported power forecasting and analysis were carried out using three years of power consumption data to analyze the grid's behavior and determine the energy demand in any period. Results show the existence of voltage rises at the end of the line in low load cases. Artificial intelligence algorithms have successfully predicted dynamic power demands. The study results are pioneering steps for autonomous grid management (e.g., anomaly detection) and sustainable smart grid designs that can decide which devices will be fed from the grid. [ABSTRACT FROM AUTHOR]
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- 2024
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5. A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene.
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Ergin, Filiz Başak Cengiz, Tekin, Mustafa, Güneş, Meltem, Güneş, Begüm, Baysun, Şahika, and Akar, Nejat
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DELETION mutation , *GENES , *MOTHERS - Abstract
Background: Incontinentia pigmenti (IP) is a rare X-linked dominant disorder affecting the skin and other ectodermal tissues that is caused by a mutation of the IKBKG/NEMO gene. Case presentation: We describe a Turkish family with IP. Sanger sequencing was performed in our patient with IP, and we identified DNA variant c.172_173delAA (p.Asn58SerfsTer79) in IKBKG. We found the same mutation in the patient's mother and grandmother. Conclusion: Our report expands the mutation spectrum in this disorder and provides valuable information on the importance of the IKBKG. Our study shows that confirmation of the mutation analysis of IP in the suspected cases is necessary for future planning pregnancies. [ABSTRACT FROM AUTHOR]
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- 2022
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6. A comprehensive analysis of postpartum depression and delivery characteristics: a cross-sectional study.
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Uzun, Navdar Dogus, Tekin, Mustafa, and Uzun, Fulya
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POSTPARTUM depression , *CROSS-sectional method , *SMOKING , *DEMOGRAPHIC characteristics , *DELIVERY (Obstetrics) , *DESIRE - Abstract
Objective: We attempted to identify risk factors for postpartum depression (PPD) by evaluating individuals in terms of their birth patterns, as well as other characteristics, including income level, smoking habits, number of children, age, and history of antidepressants. Methods and results: Participants completed a questionnaire consisting of three sections: demographic characteristics, delivery characteristics, and Edinburgh Postpartum Depression Scale. Participants with a depression medical history had a higher depression level during the postpartum. There were significant correlations between postpartum depression, the husband's working status, the desire fo r the pregnancy, and the patient's depression medical history. PPD levels did not differ for other birth-related variables. Conclusions: It is important to use appropriate screening tools to identify mothers with PPD in the community. It is also important to instruct mothers about how to care for both their babies and themselves. For this reason, the mother should be monitored for the first six months postpartum, and social - familial support should also be monitored. [ABSTRACT FROM AUTHOR]
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- 2021
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7. Photocurrent and hydrogen production by overall water splitting based on polymeric composite Calix[n]arene/Cyanin Dye/IrO2 nanoparticle.
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Tekin, Mustafa, Cevik, Emre, Sayin, Serkan, and Yildiz, Huseyin Bekir
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POLYMERIC composites , *HYDROGEN production , *MICROBIAL fuel cells , *PHOTOELECTROCHEMISTRY , *BILIRUBIN oxidase , *PLATINUM nanoparticles , *PHOTOELECTROCHEMICAL cells - Abstract
In this study, a new photoelectrochemical cell based on overall splitting of water into oxygen and hydrogen is constructed to obtain an improved photocurrent under a visible range of light. The photoanode was obtained by a gold electrode (GE) modified with carboxylic acid functionalized SH-Calix-4-arene-COOH and IrO 2 nanoparticles attached light absorbing cyanine dye via polymeric oligoaniline linkages. The conductive polymer, 4- (4H-Dithieno [3,2-b: 2 ′, 3′-d] pyrrol-4-yl)aniline, was coated on GE using electropolymerization and used as a photocathode after platinum nanoparticles (Pt) were attached on the surface. The system was illuminated under the visible light, and the water was oxidized via IrO 2 catalyst to produce hydrogen on the photocathode side while oxygen on the photoanode. A photocurrent density of 182.03 μA cm−2 was obtained by direct transfer of electrons without using a mediator. The bilirubin oxidase (BOx) enzyme was successfully used to remove excess oxygen from the reaction chamber and a further increase in photocurrent was reached up to 272.44 μA cm−2. Hydrogen production in the reaction chamber was measured by gas chromatography at different time intervals and a maximum of 1.25 × 10−8 mol cm−2 was obtained. Image 1 • A photoelectrochemical cell generating photocurrent via water splitting was constructed. • Calix[n]arene/Cyanin Dye/IrO 2 structure was used transfer electrons in high efficiency. • Electrocatalytic reduction of O2 into water is achieved by Bilirubin Oxidase. • The maximum power of 15.6 mW m−2 was reached at a current density of 39.6 mA m−2. [ABSTRACT FROM AUTHOR]
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- 2020
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8. Intra-articular administration of extra-virgin olive oil in degenerative osteoarthritis.
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Pamiry, Ahmet, Gökmen, Mehmet Yiğit, and Tekin, Mustafa
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KNEE osteoarthritis , *ANTERIOR cruciate ligament injuries , *OLIVE oil , *TREATMENT effectiveness , *MAGNETIC resonance imaging , *DESCRIPTIVE statistics , *INTRA-articular injections , *ANIMAL experimentation , *CARTILAGE cells , *STAINS & staining (Microscopy) , *RABBITS , *JOINT instability - Abstract
Background: We aimed to analyze the outcomes of intraarticular extra virgin olive oil (EVOO) injection on mechanically induced rabbit knee osteoarthritis (OA) by studying the morphological, histological, and radiological findings. Methods: The study was conducted on 32 New Zealand White rabbits. The randomly numbered subjects were divided into two main groups. The rabbits numbered 1 to 16 were selected to be the group to receive EVOO, and the remaining were selected into a control group. Both groups were separated into two subgroups for short-term (five weeks) and long-term (10 weeks) follow-up. Anterior cruciate ligament transection was applied on the left knees of all the rabbits via medial parapatellar arthrotomy to simulate knee instability. Immediately after the surgical procedure, 0.2 cc of EVOO was injected into the knee joint of rabbits numbered 1–16, and the control group received 0.2 cc of sterile saline. On the 14th day, long-term group subjects were administered another dose of 0.2 cc EVOO intraarticularly. Results: The gross morphological scores of the control group subjects were significantly different from the EVOO group for both short-term (p = 0,055) and long-term (p = 0,041) scores. In parallel, the MRI results of the EVOO subjects were significantly different from the control group for both short-term and long-term follow-up assessment scores (p = 0.017, p = 0.014, respectively). The Mankin scoring results showed that there were statistically significant differences between the EVOO and control group in the comparison of both total scores (p = 0.001 for short-term and p = 0.004 for long-term) and subgroup scoring, including macroscopic appearance, chondrocyte cell number, staining, and Tidemark integrity in both short-term (p = 0.005, p = 0.028, p = 0.001, p = 0.005, respectively) and long-term assessments (p = 0.002, p = 0.014, p < 0.001, p = 0. 200, respectively). Conclusions: We have observed promising outcomes of intra-articular application of extra virgin olive oil in the treatment of acute degenerative osteoarthritis in rabbit knees. Due to its potential cartilage restorative and regenerative effects, EVOO, when administered intra-articularly, may be a promising agent to consider for further research in the treatment of OA. [ABSTRACT FROM AUTHOR]
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- 2024
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9. Reliability evaluation of a system under a mixed shock model.
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Eryilmaz, Serkan and Tekin, Mustafa
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COMPUTATIONAL mathematics , *SHOCK environments , *NUMERICAL calculations , *MATHEMATICAL analysis , *ELECTRONIC systems - Abstract
Abstract A new mixed shock model is introduced and studied. According to the model, for two fixed critical values d 1 and d 2 such that d 1 < d 2 , the system under concern fails upon the occurrence of k consecutive shocks of size at least d 1 or a single large shock of size at least d 2. The new model combines run and extreme shock models. Reliability properties of the system are studied under two cases: when the interarrival time X i between the (i − 1) th and i th shock, and the magnitude of the i th shock Y i are independent for all i , and when the interarrival time between the (i − 1) th and i th shock, and the magnitude of the i th shock are dependent for all i. [ABSTRACT FROM AUTHOR]
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- 2019
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10. Effect of in-situ formed oxide and carbide phases on microstructure and corrosion behavior of Zr/Y doped CoCrFeNi high entropy alloys prepared by mechanical alloying and spark plasma sintering.
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Kotan, Hasan, Tekin, Mustafa, Bayatlı, Aleyna, Bayrak, Kübra Gürcan, Kocabaş, Mustafa, and Ayas, Erhan
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MECHANICAL alloying , *PARTICLE size distribution , *MICROSTRUCTURE , *STAINLESS steel , *GRAIN size , *TRANSMISSION electron microscopy , *CORROSION resistance - Abstract
The present work has examined the microstructural evolution, thermal stability, hardness, and corrosion behavior of Zr/Y doped CoCrFeNi HEAs prepared through high-energy mechanical alloying followed by spark plasma sintering (SPS) at 1100 °C. The achieved microstructures were investigated by XRD and TEM techniques. The results showed that investigated HEAs consist of an fcc solid solution of CoCrFeNi matrix with in-situ formed Cr–C carbides and Cr/Zr/Y based oxide phases. The SPS processing of CoCrFeNi yielded grain growth to 370 ± 60 nm, while 240 ± 160 nm grain size with bimodal grain size distribution and 165 ± 38 nm grain size were achieved with Zr and Y additions, respectively. The effects of microstructural changes on the hardness and corrosion behaviors of HEAs were also investigated. Compared with 372 ± 15 HV hardness of CoCrFeNi HEA, 445 ± 26 HV and 563 ± 58 HV hardness values were determined with Zr and Y doped HEAs, respectively. The increase in hardness is mainly ascribed to the precipitation strengthening of carbide and oxide phases as well as smaller grain sizes. The corrosion analysis showed that, although the achieved smaller grain sizes and the presence of different oxide types when dopped with Y and Zr impaired the corrosion resistance, the investigated HEAs have reasonable resistance to corrosion when compared to SS304 stainless steel. • CoCrFeNi–Zr/Y HEAs were nanostructured by mechanical alloying. • Ultrafine-grained matrix with Cr–C and Cr/Zr/Y based oxides were achieved after SPS. • 165 nm grain size was achieved with Y addition after SPS processing at 1100 °C. • 372 HV hardness of CoCrFeNi increased to 563 HV with Y additions. • Investigated HEAs have reasonable resistance to corrosion when compared to SS304. [ABSTRACT FROM AUTHOR]
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- 2023
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11. Power Quality Analysis Of A Campus Field: Case Study For Avşar Campus Of Kahramanmaraş Sütçü İmam University.
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Tekin, Mustafa, Sarı, Muhammed, Keçecioğlu, Ö. Fatih, Gani, Ahmet, Açıkgöz, Hakan, YILDIZ, Ceyhun, and Şekkeli, Mustafa
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POWER electronics , *QUALITY of life , *TECHNOLOGICAL innovations , *ELECTRIC power systems research , *ELECTRIC transformers - Abstract
Each passing day the use of power electronics based components have been increased because of rising the human's quality of life and development of technology. The increased use of these elements have been caused corruptions over the electricity power systems and thus it affects negatively the energy quality over power systems. Two parameters of power quality are harmonics and flicker. In this work; the measurements were taked the transformer's low voltage side which feed buildings of faculty of forest and rectorship where in Avşar Campus of Kahramanmaraş Sütçü İmam University by means of network analyzer. The figures which were formed through these measurement's data were interpreted in terms of harmonics and flicker and necessary solutions were offered. [ABSTRACT FROM AUTHOR]
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- 2016
12. Aminoglycoside induced ototoxicity associated with mitochondrial DNA mutations.
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Foster II, Joseph and Tekin, Mustafa
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AMINOGLYCOSIDES , *OTOTOXICITY , *MITOCHONDRIAL DNA , *GENETIC mutation , *DEAFNESS , *MEDICAL care costs - Abstract
Despite the risk of permanent ototoxic effects, aminoglycosides remain commonly utilized antibiotics worldwide due to low cost and efficiency in treating severe infections. Over the last two decades, mitochondrial mutations have been shown to enhance the likelihood of ototoxic injury. In particular the 1555A>G mutation in the mitochondrial gene MTRNR1 has been strongly associated with the onset of aminoglycoside-induced deafness; though pinning down the exact mechanism of action has thus far been elusive. Clinically aminoglycoside-induced deafness has been characterized by variation in the degree of hearing loss, which has prompted an investigation into genetic modifiers. To date, several putative mutations have been categorized as contributing factors to the onset of deafness with no single variation being sufficient to bring about hearing loss. Meanwhile current methods to mitigate the risk of ototoxic injury are in various stages of development. Efforts to alter the molecular structure of aminoglycosides have shown a potential path to reducing ototoxicity while preserving antibacterial properties, but these drugs are not clinically available. On the other hand, application of preemptive audiometry provides the most readily available method to both monitor and reduce the extent of aminoglycoside-induced deafness. [ABSTRACT FROM AUTHOR]
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- 2016
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13. Postmodernizmin "Din” Sorunu.
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TEKİN, Mustafa
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Modernism appeared a new imagination of a God, a universe and a human differently from a religion. Humanbeing became a new reference instead of the God; and The truth was tried to found by humanbeing on new values. Consequently hegemony of church (or God) would end. But the world witnessed bigger hegemonies and conflicts. In the meantime, modernism was criticised. At thet point, postmodernism came in to repair criticised dimensions of modernism. The truth became relatively, but postmodernism offered awards with hope on religion and liberty. Specially all of countries except in west saw postmodernism as a redemptive in this sense. We, in this article, tried to analyze the thesis of postmodernism at titles of "the truth" and "liberty/totalitarism" with the relation of religion. The relations between the God and humanbeing is a problem. It deepens crisis of humanbeing "the truth" and "liberty." [ABSTRACT FROM AUTHOR]
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- 2015
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14. Role of yttrium addition and annealing temperature on thermal stability and hardness of nanocrystalline CoCrFeNi high entropy alloy.
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Polat, Gökhan, Teki̇n, Mustafa, and Kotan, Hasan
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THERMAL stability , *HARDNESS , *YTTRIUM , *TRANSMISSION electron microscopes , *MECHANICAL alloying , *ENTROPY - Abstract
CoCrFeNi high entropy alloys (HEAs) with yttrium (Y) additions (1 and 4 at. %) were nanostructured by mechanical alloying process and annealed at various temperatures between 500 °C and 1100 °C. The structure, grain growth, and hardness were studied as a function of solute addition and annealing temperature using X-ray diffraction (XRD), focused ion beam (FIB), and scanning transmission electron microscope (S/TEM) techniques, and hardness test. The thermo-physical calculations were utilized to discuss the phase evolution after mechanical alloying and annealing with respect to added solutes. The results showed that Y additions did not affect the main crystal structure of the base CoCrFeNi HEA as the solid solution with a single face-centered cubic (fcc) crystal structure was maintained even after 1 h annealing at 1100 °C. The as-milled nanocrystalline grain size of CoCrFeNi HEA yielded extensive grain growth with the temperature exposures reaching 291 nm and 1.4 μm after annealing at 900 °C and 1100 °C, respectively. However, Y additions retarded the grain growth and decreased the average grain size upon annealing as compared to the base HEA. That is, 1 and 4 at. % Y additions stabilized the grain size around 88 nm and 95 nm (both determined by TEM) after annealing at 900 °C and 1100 °C, respectively. Accordingly, the as-milled hardness of CoCrFeNi HEA dropped from 475 HV to 220 HV after annealing at 1100 °C, while the reduction in hardness was relatively gradual with Y additions and retained around 435 HV with 4 at. % Y addition even after annealing at 1100 °C. Such thermal stability may facilitate the use of HEAs at high temperatures and enable the consolidation routes of powders into dense nanocrystalline compact HEAs. [Display omitted] • NC CoCrFeNi HEAs with Y additions were produced by MA and annealed up to 1100 °C. • Y additions did not affect the main crystal structure as fcc was maintained up to 1100 °C. • NC grain size of as-milled CoCrFeNi HEA yielded grain growth over micron size upon annealing. • Y additions retarded the grain growth below 100 nm after annealing at 1100 °C. • Annealed HEAs at 1100 °C had hardness values of 435 HV and 220 HV with and without Y addition, respectively. [ABSTRACT FROM AUTHOR]
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- 2022
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15. An investigation of abnormal grain growth in Zr doped CoCrFeNi HEAs through in-situ formed oxide phases.
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Tekin, Mustafa, Polat, Gökhan, and Kotan, Hasan
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FIELD ion microscopy , *FOCUSED ion beams , *GRAIN size , *MICROHARDNESS testing , *TRANSMISSION electron microscopy - Abstract
Abnormal grain growth (AGG) in nanocrystalline (CoCrFeNi) 100-x Zr x (x = 1 and 4 at. %) HEAs, prepared through high energy mechanical alloying, was comprehensively investigated upon annealing. Transmission electron microscopy (TEM), including high angle annular dark field imaging (HAADF) and energy dispersive spectroscopy (EDS) mapping, focused ion beam microscopy (FIB), and X-ray diffraction experiments (XRD) were utilized to investigate the microstructures as a function of added Zr content and temperature exposures. The results showed that nanocrystalline grains of the as-milled HEAs did not increase significantly upon annealing up to 700 °C as the nanocrystalline grain sizes were retained. However, grain growth was observed in (CoCrFeNi) 99 Zr 1 after annealing at 900 °C, which turned into AGG after annealing at a higher temperature of 1100 °C, disrupting the equiaxed grain structures observed at 900 °C. Although the increased amount of Zr doping reduced the average grain size in (CoCrFeNi) 96 Zr 4 , bimodal grain structure existed in the microstructure composed of a matrix with 255 nm grain size and abnormally grown grains up to 3 μm. The observed AGG was attributed to the pinning effect of in-situ formed secondary oxide phases. The microstructural evolution as a function of Zr doping and annealing temperatures was also correlated with the microhardness test results. The AGG and bimodal grain structure reported for the Zr doped CoCrFeNi HEA may open a new avenue to produce HEAs with the enhanced strength-ductility combination due to the incorporation of larger grains and in-situ formed oxide phases in a fine-grained matrix. [Display omitted] • Nanocrystalline Zr doped CoCrFeNi HEAs were prepared by MA and annealed up to 1100 °C. • Zr doping did not affect the fcc crystal structure which remained stable up to 1100 °C. • The grain size of (CoCrFeNi) 99 Zr 1 at 1100 °C was determined to be 630 nm. • (CoCrFeNi) 96 Zr 4 revealed bimodal grain structure with abnormally grown grains up to 3 μm in fine-grained matrix. • In-situ formed oxide phases are responsible for AGG as well as increased hardness. [ABSTRACT FROM AUTHOR]
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- 2022
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16. 6 February 2023, orthopedic experience in Kahramanmaraş earthquake and surgical decision in patients with crush syndrome.
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Kundakci, Bugra, Mirioglu, Akif, Tekin, Mustafa, Bagir, Melih, Bicer, Omer Sunkar, Arslan, Yusuf Kemal, Ozkan, Cenk, and Ozbarlas, Hilmi Serdar
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CRUSH syndrome , *FASCIOTOMY , *SEVERITY of illness index , *NATURAL disasters , *DESCRIPTIVE statistics , *DECISION making in clinical medicine , *AMPUTATION - Abstract
Background: The decision of fasciotomy or amputation in crush syndrome is controversial and challenging for surgeons. We aimed to share our experiences after the Kahramanmaraş earthquake, to predict the severity of crush syndrome and mortality, and to guide the surgical decision. Methods: The clinical data of patients during their first week of hospitalization were analyzed retrospectively. Totally, 233 crush syndrome patients were included. Demographic data, physical and laboratory findings, surgical treatments, and outcomes were recorded. Results: The mean time under the rubble was 41.89 ± 29.75 h. Fasciotomy and amputation were performed in 41 (17.6%) and 72 (30.9%) patients. One hundred and two patients (56.7%) underwent hemodialysis. Fifteen patients (6.4%) died. Lower extremity injury, abdominal trauma, and thoracic trauma were associated with mortality. Mortality was significantly increased in patients with thigh injuries (p = 0.028). The mean peak CK concentration was 69.817.69 ± 134.812.04 U/L. Peak CK concentration increased substantially with amputation (p = 0.002), lower limb injury (p < 0.001), abdominal trauma (p = 0.011), and thoracic trauma (p = 0.048). Conclusions: Thigh injury is associated with the severity of crush syndrome and mortality. Late fasciotomy should not be preferred in crush syndrome. Amputation is life-saving, especially in desperate lower extremity injuries. [ABSTRACT FROM AUTHOR]
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- 2023
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17. The promise of whole-exome sequencing in medical genetics.
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Rabbani, Bahareh, Tekin, Mustafa, and Mahdieh, Nejat
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MEDICAL genetics , *NUCLEOTIDE sequence , *GENETIC code , *HEALTH programs , *EXONS (Genetics) , *SINGLE nucleotide polymorphisms , *GENETIC mutation , *MEDICAL care - Abstract
Massively parallel DNA-sequencing systems provide sequence of huge numbers of different DNA strands at once. These technologies are revolutionizing our understanding in medical genetics, accelerating health-improvement projects, and ushering to a fully understood personalized medicine in near future. Whole-exome sequencing (WES) is application of the next-generation technology to determine the variations of all coding regions, or exons, of known genes. WES provides coverage of more than 95% of the exons, which contains 85% of disease-causing mutations in Mendelian disorders and many disease-predisposing SNPs throughout the genome. The role of more than 150 genes has been distinguished by means of WES, and this statistics is quickly growing. In this review, the impacts of WES in medical genetics as well as its consequences leading to improve health care are summarized. [ABSTRACT FROM AUTHOR]
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- 2014
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18. Passive smoking increases pain perception in children undergoing venous catheterization.
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Topaloğlu, Naci, Tekin, Mustafa, Yıldırım, Şule, Küçük, Adem, Gönüllü, Burçin, and Hancı, Volkan
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PASSIVE smoking , *PAIN perception , *PAIN in children , *INTRAVENOUS catheterization , *PAIN measurement - Abstract
Aim To establish whether there is any association between passive smoking and pain perception in children, in the absence of existing studies into possible links. Methods This single-centre study focused on 100 children - 50 who had been exposed to passive smoking and 50 who had not - who were admitted to general polyclinics from September 2012 to December 2012 and needed venous catheterization. Patients with chronic diseases, neurologic and psychiatric illnesses, communication problems and analgesic use in the last 24 h were excluded. The passive smoking group had a mean age of 7.3 years (56% male) and the nonpassive smoking group had a mean age of 7.7 years (44% male). The main study parameter was the Wong-Baker faces pain rating scale ( WBFPS) score during catheterization. Results There was a statistically significant difference between the pain perceptions of the 100 children studied and smoke exposure. The WBFPS scores of the 50 children who were passive smokers were significantly higher than the scores of the 50 who were not passive smokers (p = 0.00). Conclusion Passive smoking increases pain perception in children during invasive medical procedures. [ABSTRACT FROM AUTHOR]
- Published
- 2013
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19. SLITRK6 mutations cause myopia and deafness in humans and mice.
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Tekin, Mustafa, Chioza, Barry A., Yoshifumi Matsumoto, Diaz-Horta, Oscar, Cross, Harold E., Duygu Duman, Kokotas, Haris, Moore-Barton, Heather L., Kazuto Sakoori, Maya Ota, Yuri S. Odaka, Foster II, Joseph, Cengiz, F. Basak, Suna Tokgoz-Yilmaz, Oya Tekeli, Grigoriadou, Maria, Petersen, Michael B., Sreekantan-Nair, Ajith, Gurtz, Kay, and Xia-Juan Xia
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MYOPIA , *REFRACTIVE errors , *GENETIC disorders , *HERITABILITY , *GENETICS of deafness , *GENE mapping , *MUTANT proteins , *GENETICS - Abstract
Myopia is by far the most common human eye disorder that is known to have a clear, albeit poorly defined, heritable component. In this study, we describe an autosomal-recessive syndrome characterized by high myopia and sensorineural deafness. Our molecular investigation in 3 families led to the identification of 3 homozygous nonsense mutations (p.R181X, p.S297X, and p.Q414X) in SLIT and NTRK-like family, member 6 (SLITRK6), a leucine-rich repeat domain transmembrane protein. All 3 mutant SLITRK6 proteins displayed defective cell surface localization. High-resolution MRI of WT and Slitrk6-deficient mouse eyes revealed axial length increase in the mutant (the endophenotype of myopia). Additionally, mutant mice exhibited auditory function deficits that mirrored the human phenotype. Histological investigation of WT and Slitrk6-deficient mouse retinas in postnatal development indicated a delay in synaptogenesis in Slitrk6-deficient animals. Taken together, our results showed that SLITRK6 plays a crucial role in the development of normal hearing as well as vision in humans and in mice and that its disruption leads to a syndrome characterized by severe myopia and deafness. [ABSTRACT FROM AUTHOR]
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- 2013
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20. Batı'da Sekülerlik ve Türkiye Müslümanlığının Seküler İçerimleri.
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Tekin, Mustafa
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SECULARISM , *ISLAM , *LAICISM , *CHRISTIANITY , *EVERYDAY life - Abstract
This article aims to reveal the secular contents of Muslim practices in Turkey. Secularism is a concept that originated in the west and it has developed a context within its historical process. The relationship between the west and Christianity is important in this process and secularism which has gained a structural qualification in the western world, is a result of this relationship. This article will try to analyze the context of secularism in the western history, and then will discuss the Muslim experiences and its relationship with secularism in Turkey. In this context, we can say that there are some similarities and differences in the meaning of secularism in Turkey and in the West. These differences can be due to the religions, cultures and societies of two societies. It should be noted that the impacts of secularism can be seen in some practices of daily life within the modernization process, which could be traced back to the Tanzimat period in the Ottoman Empire. The article will analyze the impacts of secularism on Muslim practices within the context of language, daily life and religious practices. The mindsets and practices indicate that secularism has had some impacts in Turkey. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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21. GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf.
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Tekin, Mustafa, Xia-Juan Xia, Erdenetungalag, Radnaabazar, Cengiz, Filiz Basak, White, Thomas W., Radnaabazar, Janchiv, Dangaasuren, Begzsuren, Tastan, Hakki, Nance, Walter E., and Pandya, Arti
- Subjects
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DNA damage , *CHROMOSOME abnormalities , *GENETICS , *GENETICS of deafness , *EAR diseases - Abstract
We screened the GJB2 gene for mutations in 534 (108 multiplex and 426 simplex) probands with non-syndromic sensorineural deafness, who were ascertained through the only residential school for the deaf in Mongolia, and in 217 hearing controls. Twenty different alleles, including four novel changes, were identified. Biallelic GJB2 mutations were found in 4.5% of the deaf probands (8.3% in multiplex, 3.5% in simplex). The most common mutations were c.IVS1 + 1G > A (c.-3201G > A) and c.235delC with allele frequencies of 3.5% and 1.5%, respectively. The c.IVS1 + 1G > A mutation appears to have diverse origins based on associated multiple haplotypes. The p.V27I and p.E114G variants were frequently detected in both deaf probands and hearing controls. The p.E114G variant was always in cis with the p.V27I variant. Although in vitro experiments using Xenopus oocytes have suggested that p.[V27I;E114G] disturbs the gap junction function of Cx26, the equal distribution of this complex allele in both deaf probands and hearing controls makes it a less likely cause of profound congenital deafness. We found a lower frequency of assortative mating (37.5%) and decreased genetic fitness (62%) of the deaf in Mongolia as compared to the western populations, which provides an explanation for lower frequency of GJB2 deafness in Mongolia. [ABSTRACT FROM AUTHOR]
- Published
- 2010
- Full Text
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22. Grain size stabilization of oxide dispersion strengthened CoCrFeNi-Y2O3 high entropy alloys synthesized by mechanical alloying.
- Author
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Tekin, Mustafa, Polat, Gökhan, Kalay, Y. Eren, and Kotan, Hasan
- Subjects
- *
MECHANICAL alloying , *DISPERSION strengthening , *GRAIN size , *FIELD ion microscopy , *FOCUSED ion beams , *ENTROPY - Abstract
• CoCrFeNi high entropy alloys (HEAs) with 1 and 4 wt% Y 2 O 3 additions were nanostructured by mechanical alloying. • The as-milled and annealed HEAs possessed a microstructure of solid solution with fcc crystal structure. • The annealing of initially nanocrystalline CoCrFeNi HEA yielded grain growth reaching ~1.45 µm after annealing at 1100 °C. • The grain size stabilization was retained with Y 2 O 3 additions through the secondary oxide particles. • The higher hardness values were reached with increased Y 2 O 3 contents upon annealing. Nanocrystalline CoCrFeNi high entropy alloys (HEAs) with 1 and 4 wt% nanosized Y 2 O 3 were synthesized by high energy mechanical alloying and subjected to annealing treatments at different temperatures up to 1100 °C. X-ray diffraction (XRD), focused ion beam microscopy (FIB), and transmission electron microscopy (TEM) were used to investigate the microstructures of as-milled and annealed HEAs as a function of annealing temperature and Y 2 O 3 content. The results have shown that the as-milled HEAs were solid solutions with face-centered cubic (fcc) crystal structure, which remained stable even after annealing at 1100 °C. The as-milled nanocrystalline CoCrFeNi HEA revealed grain growth upon annealing, reaching 293 nm and 1.45 µm after annealing at 900 and 1100 °C, respectively. This suggests that the nanocrystalline microstructure of CoCrFeNi is not thermally stable at high temperatures. The grain size stability was found to reach around 72 nm with nanosized Y 2 O 3 particles after annealing at 1100 °C. Accordingly, 477 ± 20 HV as-milled hardness of CoCrFeNi was dramatically reduced to 220 ± 14 HV after annealing at 1100 °C due to severe grain coarsening but retained around 450 ± 23 HV with 4 wt% Y 2 O 3 addition. The correlation between microstructure and hardness was utilized to evaluate the mechanical properties. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
23. Halk Kütüphanelerinin Bölgesel Dağılım Trendi: Gini Kat Sayılarıyla 1995-2005 Dönemi için Uygulamalar.
- Author
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ÇİFTÇİ, Murat and TEKİN, Mustafa
- Subjects
- *
ECONOMIC development , *ECONOMIC policy , *DEMOGRAPHY , *PUBLIC libraries , *PUBLIC institutions - Abstract
In this study, inequalities in the spatial distribution of public libraries in Turkey was investigated. Gini-coefficients as inequality indicators were used. It was concluded that inequality in the spatial distribution of public libraries had substantially been decreased during the period of 1995 to 2005. It should however be noted that the analysis was realised without taking regard of the effect of relative populations of administrative units involved. [ABSTRACT FROM AUTHOR]
- Published
- 2008
- Full Text
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24. Effects on vocabulary acquisition of presenting new words in semantic sets versus semantically unrelated sets
- Author
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Erten, İsmail Hakkı and Tekin, Mustafa
- Subjects
- *
VOCABULARY , *INFERENCE (Logic) , *THEMATIC analysis , *FORMAL language semantics - Abstract
Abstract: This paper reports on a study which investigated the effect on vocabulary recall of introducing new words via two different methods. A one-group quasi-experimental research design with alternating time series measures was employed. A group of 60 fourth graders were taught 80 carefully selected words either in semantically related sets or semantically unrelated sets. Also under investigation was the effect of these methods on test completion. The statistical analysis revealed that learning words in semantically unrelated sets yields better results than learning vocabulary in semantically related sets. The difference persisted in the long term. Further, test completion time was much longer for the semantically related vocabulary items, indicating a slower recall of vocabulary. The study indicated that, contrary to frequent practice in many course books, presenting new vocabulary that belongs to the same semantic set together may cause interference due to cross-association and may even hinder vocabulary learning. Such practice needs to be questioned and alternative methods that involve presenting vocabulary in unrelated sets need to be developed to facilitate vocabulary teaching and learning. [Copyright &y& Elsevier]
- Published
- 2008
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25. EHL-İ SÜNNET'İN ÇAĞDAŞELEŠTİRİLERİNİN TOPLUMSAL ARKAPLANI.
- Author
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TEKİN, Mustafa
- Subjects
- *
ISLAMIC sects , *ABBASIDS , *CALIPHATE ,UMAYYAD dynasty - Abstract
Ahl-al Sunnah, as a school, constitutes a quorum in Islamic world. The constitution of Ahl-al Sunnah, as other sects, is in a historical process. As a matter of fact, if we looks at the Eras of ?Omayyad? and ?Abbasid?, we can realize this aspect. The discussions like caliphate, Maytry of Osman, Shi'i, action of human affect Ahl-al Sunnah and other sects seriously. Today, there are important critiques especially after 1980. As we know, social, political and cultural evets affect in early constitutional process. Today, there are some events in crituques to Ahl-al Sunnah. We try to indicate sociological background of contemporary crituques to Ahl-al Sunnah. [ABSTRACT FROM AUTHOR]
- Published
- 2007
26. Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia.
- Author
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Tekin, Mustafa, Hişmi, Burcu Öztürk, Fitoz, Suat, Özdağ, Hilal, Cengiz, Filiz Başak, Sırmacı, Aslı, Aslan, İdil, İnceoğlu, Bora, Yüksel-Konuk, E. Berrin, Yılmaz, Seda Taşır, Yasun, Öztan, and Akar, Nejat
- Subjects
- *
DEAFNESS , *GENETICS of deafness , *GENETIC mutation , *FIBROBLASTS , *PHENOTYPES , *EAR diseases - Abstract
We identified nine individuals from three unrelated Turkish families with a unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia). We later demonstrated three different homozygous mutations (p.S156P, p.R104X, and p.V206SfsX117) in the fibroblast growth factor 3 (FGF3) gene in affected members of these families, cosegregating with the autosomal recessive transmission as a completely penetrant phenotype. These findings demonstrate the involvement of FGF3 mutations in a human malformation syndrome for the first time and contribute to our understanding of the role this gene plays in embryonic development. Of particular interest is that the development of the inner ear is completely disturbed at a very early stage—or the otic vesicle is not induced at all—in all of the affected individuals who carried two mutant FGF3 alleles. [ABSTRACT FROM AUTHOR]
- Published
- 2007
- Full Text
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27. Niikawa–Kuroki (Kabuki) syndrome with congenital sensorineural deafness: Evidence for a wide spectrum of inner ear abnormalities
- Author
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Tekin, Mustafa, Fitoz, Suat, Arici, Serap, Cetinkaya, Ergun, and Incesulu, Armagan
- Subjects
- *
AUDIOLOGY , *INFLAMMATION , *SENSORINEURAL hearing loss - Abstract
Summary: Hearing loss, mainly due to recurrent otitis media, has been reported in approximately 40% of individuals with Niikawa–Kuroki (Kabuki) syndrome (NKS). Sensorineural hearing loss leading to congenital or prelingual deafness has been described rarely. We have identified two unrelated individuals with Niikawa–Kuroki syndrome among 535 probands who have severe to profound sensorineural deafness. Bilateral absence of the cochlea with dilated dysplastic vestibule and unilateral enlarged vestibule were demonstrated in these two individuals. In conclusion, Niikawa–Kuroki syndrome should be kept in mind when evaluating an individual with congenital deafness and a wide spectrum of inner ear abnormalities occurs in this syndrome. [Copyright &y& Elsevier]
- Published
- 2006
- Full Text
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28. 657del5 Mutation of the Nijmegen Breakage Syndrome Gene (NBS1) in the Turkish Population.
- Author
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Tekin, Mustafa, Akcayoz, Duygu, Ucar, Canan, Gulen, Huseyin, and Akar, Nejat
- Subjects
- *
GENETIC mutation , *SYNDROMES , *GENES , *FAMILIES - Abstract
The 657del5 mutation of the NBS1 gene has been demonstrated in most patients with Nijmegen breakage syndrome (NBS). We identified four Turkish families in which probands were diagnosed as having NBS and found to be homozygous for the 657del5 mutation. The 657del5 allele in the four Turkish families had a single origin. [ABSTRACT FROM AUTHOR]
- Published
- 2005
- Full Text
- View/download PDF
29. Assessment of Ventricular Repolarization in a Large Group of Children with Early Onset Deafness.
- Author
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TUTAR, ERCAN, TEKIN, MUSTAFA, UÇAR, TAYFUN, ÇOMAK, ELIF, ÖCAL, BURHAN, and ATALAY, SEMRA
- Subjects
- *
DEAFNESS , *DEAF children , *ELECTROCARDIOGRAPHY , *BRADYCARDIA , *SYNCOPE - Abstract
TUTAR, E.,et al.: Assessment of Ventricular Repolarization in a Large Group of Children with Early Onset DeafnessThis study examined the ECG traces of 397 deaf children (age 12.5± 2.9 years, range 6–19 years), after exclusion of cases with Jervell and Lange-Nielsen syndrome (JLNS), and compared them to those of 361 normal hearing counterparts (age 12.5± 2.7 years; range 7–18 years). An observer, who was unaware of the hearing status of the subjects, measured QT and QTc intervals and calculated dispersions of QT and QTc from standard 12-lead ECGs recorded at a speed of 25 mm/s at rest. Although the mean QT was found to be longer in deaf children than that observed in the control group (P<0.0001), the mean QTc was significantly shorter (P<0.0001). The mean heart rate was significantly lower in deaf children. When QT and QTc data were recompared after the children were grouped according to the heart rate, the observed difference became less significant or disappeared. In conclusion, there are no major abnormalities for repolarization parameters in children with congenital sensorineural deafness, when compared to hearing counterparts, if heart rates are similar. Based on these results, routine ECG screening of deaf children for repolarization abnormalities may be unnecessary unless they have a history of syncope or positive family history of syncope and/or early sudden death.(PACE 2004; 27:1217–1220) [ABSTRACT FROM AUTHOR]
- Published
- 2004
- Full Text
- View/download PDF
30. Advances in hereditary deafness.
- Author
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Tekin, Mustafa, Arnos, Kathleen S, and Pandya, Arti
- Subjects
- *
GENETICS of deafness , *DEAFNESS , *MEDICAL screening , *EAR - Abstract
Progress in the Human Genome Project, availability of cochlea-specific cDNA libraries, and development of murine models of deafness have resulted in rapid discovery of many loci and corresponding genes for deafness. Up to now, the chromosomal locations of about 70 genes for non-syndromic deafness have been mapped, and the genes of more than 20 loci have been identified and characterised. Mutations in one gene, connexin 26 (CX26GJB2), are responsible for most cases of recessive non-syndromic deafness, accounting for 30-40% of all childhood genetic deafness in some populations (eg, white people of Western European descent). We summarise advances in identification of genes for deafness and provide a guide to the clinical approach to diagnosis of patients with hearing loss. [ABSTRACT FROM AUTHOR]
- Published
- 2001
- Full Text
- View/download PDF
31. MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis?
- Author
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Tekin, Mustafa, Yalçinkaya, Fatoş, Çakar, Nilgün, Akar, Nejat, Mısırlıoğlu, Müge, Taştan, Hakkı, and Tümer, Necmiye
- Subjects
- *
FAMILIAL Mediterranean fever , *AMYLOIDOSIS , *GENETICS - Abstract
Familial Mediterranean fever (FMF) is an autosomal recessive disease. It is characterized by recurrent febrile episodes in association with peritonitis, pleuritis, and arthritis. Progressive systemic amyloidosis is the most important complication of FMF that inevitably leads to chronic renal failure. Recently, the gene for FMF, MEFV, has been cloned and four missense mutations have been described: M694V, M680I, V726A, and M694I. Initial studies have suggested that the presence of the M694V mutation carries a significant risk for the development of amyloidosis. In this study, we present seven families, in which at least two individuals have been diagnosed with FMF and at least one with amyloidosis. Among 18 individuals, in whom molecular testing was performed for the four aforementioned mutations, ten had amyloidosis. None of these ten individuals was found to be homozygous for the M694V mutation. In three families, there were two sibs with amyloidosis. None of the sib-pairs with amyloidosis was found to have the same genotype. There were two or more sibs with the same genotype in four families. Only one sib from each family developed amyloidosis in these families. These results provide evidence that FMF patients without the M694V mutation are also at risk for the development of amyloidosis. Particular mutations themselves do not appear to be sufficient to explain the occurrence of amyloidosis in all cases with FMF. [ABSTRACT FROM AUTHOR]
- Published
- 2000
- Full Text
- View/download PDF
32. Complete Heart Block Related to Mumps Myocarditis in an 80-Year-Old Woman.
- Author
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Özdinç, Şerife, Tekin, Mustafa, Özkeçeci, Gülay, Aşik, Gülşah, and Oruç, Oya
- Subjects
- *
HEART diseases , *MUMPS , *MYOCARDITIS , *EDEMA , *DIZZINESS - Abstract
Introduction: Mumps is an acute, self-limited, highly infectious, systemic viral disease characterized by a swelling of the parotid glands. It is more common in school-aged children. We want to emphasize in this case report that mumps can also occur in old people and cause a mortal and rare complication such as complete AV block associated with mumps myocarditis. Case Report: An 80-year-old woman admitted to the emergency room with complaints of swelling around the right ear, fatigue, weakness, dizziness, presyncope, and chest pain. Her grandson had had a fever and swelling around the right and left ear approximately 2 weeks before the beginning of her own ailment. Her core temperature was 37.5°C. Blood pressure was 120/60 mmHg and pulse rate was 37 beats/min. There was swelling of the right parotid gland and complete atrioventricular block in her electrocardiogram. The patient was consulted with a cardiolog and transferred to the cardiology clinic. Conclusion: Mumps is most commonly occurs in children, and the most common presentation of the disease is parotitis. However, it may occur in elders and result in mortal complications. [ABSTRACT FROM AUTHOR]
- Published
- 2015
- Full Text
- View/download PDF
33. Serous Cystadenoma in 12 Years Old Girl Presenting with Severe Anemia.
- Author
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Tekin, Mustafa, Küçük, Adem, Yıldırım, Şule, Topaloğlu, Naci, Arık, Muhammed Kasım, and Kızıldağ, Betül
- Abstract
A 12-year-old girl presented with anemia for eight months and abdominal pain for three months. She was prescribed iron supplements for eight months. She was admitted to our hospital with treatment-resistant anemia and abdominal pain. In physical examination she was found to have a mass in right lumbar area. An ultrasound and magnetic resonance imaging scans suggested a large cystic mass that fulfill the almost all of midline of the abdomen, pushing intra-abdominal organs laterally and superiorly. She had a successful excision of the tumor and the final pathology was serous cystadenoma. It is important to investigate the etiology of anemia in adolescent girls although the most common etiology is iron deficiency anemia. [ABSTRACT FROM AUTHOR]
- Published
- 2014
34. A Rare Case of Cystinosis Presenting with Alkalosis.
- Author
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Topaloğlu, Naci, Tekin, Mustafa, Yıldırım, Şule, and Gencer, Baran
- Subjects
- *
CYSTINOSIS , *ALKALOSIS , *HYPOKALEMIA , *URINALYSIS , *FANCONI syndrome , *KIDNEY tubules , *RICKETS , *DISEASES - Abstract
A 14-month-old girl was admitted to our clinic due to failure to thrive. Her weight and height were below the third percentile for age. Laboratory examination showed signs of alkalosis, hypokalemia, and hypochloremia. However, her urinalysis was consistent with renal tubular acidosis. Radiologic examination showed signs of active rickets. Based on clinical and laboratory findings, we focused on the probable diagnosis of cystinosis. Slit-lamp examination of the cornea confirmed our diagnosis. We should note that the presence of alkalosis does not exclude the possibility of diagnosis of cystinosis and we should be aware that if any slight doubt of cystinosis exists, patients should be carefully and completely evaluated for diagnosis. [ABSTRACT FROM AUTHOR]
- Published
- 2013
- Full Text
- View/download PDF
35. Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism.
- Author
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Ikinciogullari, Aydan, Tekin, Mustafa, Dogu, Figen, Reisli, Ismail, Tanir, Gonul, Yi, Zanhua, Garrison, Nanibaa, Brilliant, Murray H., and Babacan, Emel
- Subjects
- *
NEISSERIA meningitidis , *ALBINISM , *GENETICS , *JUVENILE diseases , *PEDIATRICS , *SIBLINGS , *COMPARATIVE studies , *COMPLEMENT (Immunology) , *CONSANGUINITY , *GENES , *RESEARCH methodology , *MEDICAL cooperation , *MEMBRANE proteins , *GENETIC mutation , *PROTEINS , *RESEARCH , *EVALUATION research , *GRAM-negative aerobic bacteria , *MENINGOCOCCAL infections , *GENOTYPES - Abstract
Presents a study on children with meningococcal meningitis and complement 6 deficiency associated with oculocutaneous albinism. Result of the examination on all the cellular and humoral immune parameters of the children; Analysis of the genes of the patients; Reason for the association of complement 6 deficiency with oculocutaneous albinism.
- Published
- 2005
- Full Text
- View/download PDF
36. A 17-month-old with extreme prenatal-onset growth delay. Microcephalic osteodysplastic primordial dwarfism type II.
- Author
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Tekin, Mustafa, Ng, Janice, Bodurtha, Joann, Tekin, M, Ng, J, and Bodurtha, J
- Subjects
- *
DWARFISM , *MICROCEPHALY - Abstract
Presents a case of a boy who demonstrates a severe prenatal onset of growth retardation. Characteristics of children with microcephalic osteodysplastic primordial dwarfism type II; Difference of the type of dwarfism from the other types; Result of radiological analysis.
- Published
- 2000
- Full Text
- View/download PDF
37. A Family with Stretchy Skin and Recurrent Hernias.
- Author
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Tekin, Mustafa and Bodurtha, Joann
- Subjects
- *
EHLERS-Danlos syndrome , *GENETIC disorders , *FAMILIAL diseases - Abstract
Reports on a case of two women with the familial disease Ehlers-Danlos syndrome (EDS). Major manifestations including joint hypermobility, stretchy skin and recurrent hernias; Molecular defects in several types of EDS; Clinical signs and symptoms; Laboratory evaluations for collagen structure and/or gene changes.
- Published
- 2002
38. Fever, Pain, and Rash in a Child.
- Author
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Tekin, Mustafa and Bodurtha, Joann
- Subjects
- *
FAMILIAL Mediterranean fever , *FEVER in children , *DIAGNOSIS - Abstract
Discusses the medical case of an 11-year-old boy of Turkish ancestry who was hospitalized with a two-week history of fatigue, myalgia, abdominal pain, nausea and vomiting. Pertinent medical history of the boy; Classic manifestations of familial Mediterranean fever (FMF); Treatment.
- Published
- 2000
39. Comparison of hematoma block and sedoanalgesia for analgesia before reduction of distal radius fractures.
- Author
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Bağır, Melih, Mirioğlu, Akif, Tekin, Mustafa, Biçer, Ömer Sunkar, and Özkan, Cenk
- Subjects
- *
DISTAL radius fractures , *HEMATOMA , *OLDER patients , *VISUAL analog scale , *ANALGESIA - Abstract
Purpose: The aim of this study was retrospective assessment of the reduction quality, hospitalization time, and relief of pain in hematoma block assisted closed reduction versus sedoanalgesia assisted closed reduction. Materials and Methods: There were 106 patients included who diagnosed as isolated displaced distal fracture of radius and treated with closed reduction. Hematoma block was used in 45 patients and sedoanalgesia was used in 61 patients. Midazolam (0,1 mg/kg) and fentanyl (1 mcg/kg) combination was administered as the sedoanalgesic agent, and lidocaine (10 ml, 1%) as the local anaestetic. Demographic data, fracture type according to Frykman classification, and mechanism of trauma were noted. Pain status of patients were recorded by using the Visual analog scale (VAS). Sarmiento criteria was used for the evaluation of the reduction quality. Cost of the analgesic procedure was assessed based on the prices of the analgesia procedures, used pharmaceuticals and medical consumables. Results: Both groups were similar in terms of gender, age, fracture type and affected side., Hospitalization time was shorter in hematoma block group, and VAS was significantly lower. Quality of reduction was similar in both groups. Cost per patient was four times higher in sedoanalgesia group compare to hematoma block group. Conclusion: Hematoma block is an effective, easily performed method that can be used prior to the closed reduction of the distal radius fractures to relieve the pain. Older patients can be susceptible to adverse effects of sedoanalgesia and hematoma block can be chosen as a more reliable method to provide the analgesia. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
40. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
- Author
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Dohrn, Maike F., Bademci, Guney, Rebelo, Adriana P., Jeanne, Médéric, Borja, Nicholas A., Beijer, Danique, Danzi, Matt C., Bivona, Stephanie A., Gueguen, Paul, Zafeer, Mohammad F., Tekin, Mustafa, Züchner, Stephan, Acosta, Maria T., Adams, David R., Afzali, Ben, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, and Ashley, Euan A.
- Subjects
- *
DEVELOPMENTAL delay , *INTELLECTUAL disabilities , *AUTISM , *GENETIC variation , *NEUROLOGICAL disorders , *CHILDREN with developmental disabilities , *CHILDREN with autism spectrum disorders - Abstract
ATP1A1 encodes a sodium‐potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous ATP1A1 variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children presenting with delayed motor and speech development and autism. While absent in controls, the variant occurred de novo in one proband and co‐segregated in two affected half‐siblings, with mosaicism in the healthy mother. Using a specific ouabain resistance assay in mutant transfected HEK cells, we found significantly reduced cell viability. Demonstrating loss of ATPase function, we conclude that this novel variant is pathogenic, expanding the phenotype spectrum of ATP1A1. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
41. Editörden.
- Author
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Tekin, Mustafa
- Published
- 2015
42. Correction: 6 February 2023, orthopedic experience in Kahramanmaraş earthquake and surgical decision in patients with crush syndrome.
- Author
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Kundakci, Bugra, Mirioglu, Akif, Tekin, Mustafa, Bagir, Melih, Bicer, Omer Sunkar, Arslan, Yusuf Kemal, Ozkan, Cenk, and Ozbarlas, Hilmi Serdar
- Subjects
- *
CRUSH syndrome , *FASCIOTOMY , *SEVERITY of illness index , *NATURAL disasters , *DECISION making in clinical medicine , *AMPUTATION - Abstract
A correction is presented to the article "Orthopedic Experience in Kahramanmaras Earthquake and Surgical Decision in Patients With Crush Syndrome," which appeared in the February 6, 2023 issue of the magazine.
- Published
- 2024
- Full Text
- View/download PDF
43. Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies.
- Author
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Ocak, Emre, Duman, Duygu, and Tekin, Mustafa
- Subjects
- *
GENETICS of deafness , *TREATMENT of hearing disorders , *HEARING disorders , *INNER ear - Abstract
Inner ear anomalies diagnosed using a radiological study are detected in almost 30% of cases with congenital or prelingual-onset sensorineural hearing loss. Inner ear anomalies can be isolated or occur along with a part of a syndrome involving other systems. Although astonishing progress has been made in research aimed at revealing the genetic causes of hearing loss in the past few decades, only a few genes have been linked to inner ear anomalies. The aim of this review is to discuss the known genetic causes of inner ear anomalies. Identifying the genetic causes of inner ear anomalies is important for guiding clinical care that includes empowered reproductive decisions provided to the affected individuals. Furthermore, understanding the molecular underpinnings of the development of the inner ear in humans is important to develop novel treatment strategies for people with hearing loss. [ABSTRACT FROM AUTHOR]
- Published
- 2019
- Full Text
- View/download PDF
44. The frequency of FV G1691A and PT G20210A mutations in an Albanian population.
- Author
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Avni Atay, A., Tekin, Mustafa, Allajalebeu, Klodian, Eğin, Yonca, and Akar, Nejat
- Subjects
- *
BLOOD coagulation factors , *GENETIC polymorphisms , *GENETIC mutation , *DISEASE incidence , *THROMBOSIS , *GENETICS - Abstract
A letter to the editor is presented which is concerned with the frequency of FV G1691A and PT G20210A mutations in an Albanian population.
- Published
- 2011
- Full Text
- View/download PDF
45. LETTERS TO THE EDITOR: 4.
- Author
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Tutar, Ercan and Tekin, Mustafa
- Subjects
- *
LETTERS to the editor , *HEARING impaired children - Abstract
Presents a response by Eric Tutar to a letter to the editor about his article "Assessment of ventricular repolarization in a large group of children with early onset deafness," in the September 2004 issue.
- Published
- 2005
- Full Text
- View/download PDF
46. Novel GPR156 variants confirm its role in moderate sensorineural hearing loss.
- Author
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Ramzan, Memoona, Bozan, Nazim, Seyhan, Serhat, Zafeer, Mohammad Faraz, Ayral, Aburrahman, Duman, Duygu, Bademci, Guney, and Tekin, Mustafa
- Subjects
- *
SENSORINEURAL hearing loss , *G protein coupled receptors , *INNER ear , *TURKS , *GENE families , *HEARING disorders - Abstract
Hereditary hearing loss (HL) is a genetically heterogeneous disorder affecting people worldwide. The implementation of advanced sequencing technologies has significantly contributed to the identification of novel genes involved in HL. In this study, probands of two Turkish families with non-syndromic moderate HL were subjected to exome sequencing. The data analysis identified the c.600G > A (p.Thr200Thr) and c.1863dupG (p.His622fs) variants in GPR156, which co-segregated with the phenotype as an autosomal recessive trait in the respective families. The in silico predictions and a minigene assay showed that the c.600G > A variant disrupts mRNA splicing. This gene belongs to the family of G protein-coupled receptors whose function is not well established in the inner ear. GPR156 variants have very recently been reported to cause HL in three families. Our study from a different ethnic background confirms GPR156 as a bona fide gene involved in HL in humans. Further investigation towards the understanding of the role of GPCRs in the inner ear is warranted. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
47. Novel GPR156 variants confirm its role in moderate sensorineural hearing loss.
- Author
-
Ramzan, Memoona, Bozan, Nazim, Seyhan, Serhat, Zafeer, Mohammad Faraz, Ayral, Aburrahman, Duman, Duygu, Bademci, Guney, and Tekin, Mustafa
- Subjects
- *
SENSORINEURAL hearing loss , *G protein coupled receptors , *INNER ear , *TURKS , *GENE families , *HEARING disorders - Abstract
Hereditary hearing loss (HL) is a genetically heterogeneous disorder affecting people worldwide. The implementation of advanced sequencing technologies has significantly contributed to the identification of novel genes involved in HL. In this study, probands of two Turkish families with non-syndromic moderate HL were subjected to exome sequencing. The data analysis identified the c.600G > A (p.Thr200Thr) and c.1863dupG (p.His622fs) variants in GPR156, which co-segregated with the phenotype as an autosomal recessive trait in the respective families. The in silico predictions and a minigene assay showed that the c.600G > A variant disrupts mRNA splicing. This gene belongs to the family of G protein-coupled receptors whose function is not well established in the inner ear. GPR156 variants have very recently been reported to cause HL in three families. Our study from a different ethnic background confirms GPR156 as a bona fide gene involved in HL in humans. Further investigation towards the understanding of the role of GPCRs in the inner ear is warranted. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
48. KBG syndrome.
- Author
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Swols, Dayna Morel, Foster II, Joseph, Tekin, Mustafa, Morel Swols, Dayna, and Foster, Joseph 2nd
- Subjects
- *
SKELETAL abnormalities , *CRANIOFACIAL abnormalities , *INTELLECTUAL disabilities , *DISEASE prevalence , *ETIOLOGY of diseases - Abstract
Clinical Description: KBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as triangular face, prominent nasal bridge, thin upper lip and synophrys; skeletal findings including short stature, delayed bone age, and costovertebral anomalies; and developmental delay/intellectual disability sometimes associated with seizures and EEG abnormalities. The condition was named KBG syndrome after the initials of the last names of three original families reported in 1975.Epidemiology: The prevalence of KBG syndrome is not established. There are over 100 patients reported in the literature. It is likely that KBG syndrome is underreported due to incomplete recognition and very mild presentations of the disorder in some individuals. KBG syndrome is typically milder in females.Etiology: Causative variants in ANKRD11 have been identified in affected individuals. The vast majority of identified variants are loss of function, which include nonsense and frameshift variants and larger deletions at 16q24.3. Haploinsufficiency appears to be the mechanism of pathogenicity.Genetic Counseling: Familial and de novo cases have been reported. Causative de novo variants occur approximately one third of the time. Transmission follows an autosomal dominant pattern. The syndrome displays inter- and intra-familial variability. [ABSTRACT FROM AUTHOR]- Published
- 2017
- Full Text
- View/download PDF
49. Price Forecasting Model for Turkish Day-Ahead Electricity Market Using Neural Network.
- Author
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Yıldız, Ceyhun, Gani, Ahmet, Tekin, Mustafa, Keçecioğlu, Ö. Fatih, Açıkgöz, Hakan, and Şekkeli, Mustafa
- Subjects
- *
ELECTRIC rates , *ARTIFICIAL neural networks , *ECONOMIC forecasting , *PROFITABILITY , *ELECTRIC power production , *ELECTRIC power consumption , *MATHEMATICAL models - Abstract
Day-ahead electricity market (DAM) price forecasts are crucial parameters for market participants to create their next - day generation plan. Accurate price forecasts help participant companies to increase their profit by shifting generation to high price occurred hours. In this study we developed a forecast model for Turkish energy market because country's energy market mechanism hasn't got price forecast module and there is no available accurate price forecasts. Architecture of model is based on feed forward back propagation neural network approach. Four year period real market data are used in train and test phases. Results of this study show that forecasts of proposed model have acceptable accuracy and the performance of the model strongly depends on the market demand and generation capacities. [ABSTRACT FROM AUTHOR]
- Published
- 2016
50. Reply to: 'passive smoking increases pain perception in children undergoing venous catheterization'.
- Author
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Topaloğlu, Naci, Tekin, Mustafa, Yıldırım, Şule, Küçük, Adem, Gönüllü, Burçin, and Hancı, Volkan
- Subjects
- *
PASSIVE smoking , *PAIN perception , *INTRAVENOUS catheterization - Abstract
A response from the author of the article "Passive smoking increases pain perception in children undergoing venous catheterization" is presented.
- Published
- 2013
- Full Text
- View/download PDF
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