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Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship
No full textBackground: Primary heart muscle diseases called cardiomyopathy (CMP) constitute an important group of subsequent heart disorders. CMPs are basically divided into four subgroups associated with the heart muscle but clinically distinguishable: hypertrophic CMP (HCM), dilated CMP (DCM), restrictive CMP (RCM), and left ventricular non-compaction CMP. Material and Methods: The results of the patients who applied to the Genetic Diseases Evaluation Center with the preliminary diagnosis of clinical CMP were evaluated retrospectively in the current study. In the current study, 103 cases were included and evaluated for phenotype-genotype association with the CMP next-generation sequencing (NGS) panel. Results: Fifty-eight different variants were identified in 45 patients. Sixteen out of those 58 variants were novel. Of these variants, 19 (32.75%) were likely pathogenic (LP)/pathogenic (P), and 35 (60.34%) were variants of uncertain significance. Conclusion: The prevalence of pathogenic variants in target genes associated with CMP is important for our current country's population, and multiple gene groups associated with CMP can be screened through NGS. The contribution rate to the clinical diagnosis was 18.44% in terms of the individual population who applied to our medical genetics center and were compatible with the CMP indication
A folkloric study of the Yoruks of Stip and Radovish
No full textYazının henüz bilinmediği ilk uygarlıklarda bütün toplumlar heyecan ve kültür miraslarını sonraki kuşaklara sözlü olarak aktarmıştır. Kulaktan kulağa taşınan sözlü kültür ürünleri bir topluluğun belleği, bir halkın uyduğu kutsal mirastır. Halk kültürü günlük hayatı, sağduyusu, dini ve gelenek görenekleriyle önemli özellikleri içinde barındıran, üretilip yaşatılan sözlü veya yazılı olarak gelecek kuşaklara aktarılmasını amaçlayan yaşayış kalıplarının bütünüdür. Bir diğer deyişle halk kültürü bir bölgedeki kültür ürünlerinin tümüdür. Makedonya Yörüklüğü farklı din, kültür ve ırktan toplumlarla bir arada bulunmalarına rağmen özlerini unutmayıp dil, din, gelenek ve göreneklerine sahip çıkmışlar ve millî benliklerini muhafaza etmeye devam etmişlerdir. Fakat modernleşmenin yaygınlık kazanması neticesinde bu kültürün bazı önemli unsurlarının ne yazık ki kaybolmaya yüz tuttuğu da gözlemlenmiştir. Gelenek, görenek ve sözlü kültür ürünlerimizi elbette unutmayacağız, yaşamakta olduğumuz her olayın altında geleneğimizden izler olacağını unutmamalıyız. Saygı ve selamlamada, sofraya oturup kalkmada, kültür ürünlerinin canlılığında var olan bu izler zamanla zayıflayabilir, ancak biz onlara sahip çıktıkça, onları yazıya aktarmaya çalışarak onlar korunmuş olacaklardır. Kaynak araştırmalar incelendiğinde Makedonya Yörüklüğünün halk bilimi üzerine yapılmış geniş kapsamlı bilimsel bir çalışmaya rastlanmamaktadır. Hâliyle bu çalışmamız söz konusu unutulmaya yüz tutmuş kültürel değerleri yazıya aktararak gün yüzüne çıkarmak ve olanları yaşatarak nesiller boyu aktarılmasını sağlamaktır. Bir alan araştırması olan bu çalışma, saha araştırmaları sırasında gözlem, görüşme ve mülakat teknikleri kullanılarak derlemeler yapılmış ve daha sonra yazıya aktarılmıştır. Anahtar Kelimeler: Yörükler, Makedonya, halk edebiyatı, kültür, inanış.A
The effect of mobile learning-based enriched digital activity schedules on development of symbolic play skills in children with autism
No full textBu araştırmanın amacı, otizm spektrum bozukluğu (OSB) olan çocuklar için "Dijital Etkinlik Çizelgeleri ile Sembolik Oyun Öğretim Programı" (DEÇSÖP) geliştirmek, geliştirilen öğretim tasarımının OSB'li erken çocukluk dönemindeki bir çocuğun sembolik oyun becerileri üzerindeki etkililiğini sınamak ve program sonrası tasarım sürecine katılan eğitimcilerin görüşlerine yer vermek olarak belirlenmiştir. DEÇSÖP, Brown ve Green (2016)'in öğretim tasarımı geliştirme süreci aşamaları takip edilerek geliştirilmiştir. Öğretim tasarımı; ihtiyaçların belirlenmesi, uygulanması ve değerlendirilmesi olmak üzere üç temel aşamadan oluşmaktadır. İhtiyaç analizi aşamasında, OSB'li çocuklarla en az bir dönem çalışmış öğretmenler arasından seçilen katılımcıların görüşlerine başvurulmuştur. Bu aşamada, Türkiye'nin Marmara Bölgesi'nde yer alan büyükşehirlerinden birinin sosyo-ekonomik olarak üst düzeyde konumlanan bir ilçesindeki UDA temelli bir özel eğitim kurumunda çalışan 16 eğitimci yer almıştır. Programın etkililiğinin değerlendirilmesine yönelik uygulama aşaması ise aynı kurumda eğitim alan OSB tanılı veya risk altında bulunan iki öğrenci (pilot uygulama: bir ve tek denekli araştırma: bir) ile yürütülmüştür (2022-2014). Araştırmanın modellenmesi, karma araştırma desenlerinden çok aşamalı karma yöntem ile gerçekleştirilmiş ve öğretim programının etkililiğini belirlemek için, tek-denekli araştırma modellerinden davranışlar arası yoklama evreli çoklu yoklama modeli kullanılmıştır. Bulgular, DEÇSÖP' ün OSB'li bir çocuğa mobil öğrenme tabanlı zenginleştirilmiş dijital etkinlik çizelgeleriyle sembolik oyun becerilerini öğretmede etkili olduğunu göstermiştir. Sonuçlar DEÇSÖP' ün OSB'li çocuklarda sembolik oyun becerilerinin geliştirilmesinde etkili olduğunu ve sürece katılan alandaki eğitimcilerin memnuniyetini de göstermektedir. DEÇSÖP' ün yaygınlaştırılmasının OSB'li çocukların öğretim programlarına yönelik önemli bir adım olacağı da düşünülmektedir.The aim of this study is to develop a "S
Numerical Simulation of Closed Die Hot Forging Process of CuZn40Pb2 Brass Alloy Valve Body Cover
No full text2023 International Conference of Computational Methods in Sciences and Engineering, ICCMSE 2023 -- -- Heraklion; Galaxy Heraklion Hotel -- 206326In this study, numerical simulation of the closed die hot forging process of CuZn40Pb2 brass alloy water valve cover was analyzed. During the hot forging process of the brass alloy water valve cover in a conventional single stroke forging press, a number of defects occur in the formation of the material geometry. The main factors affecting these defects are cylindrical billet and die temperature. Finite element simulations including geometry, filling sequence and force were performed with Deform 3D software and the effect of temperature was optimized. However, during the experiment, it was observed that when the brass alloy water valve cover is forged in a conventional press, the coefficient of friction, which decreases with the use of lubricant, also significantly affects the flow behavior of the material. Through further analysis of the experimental process and finite element simulation results, the causes of die and valve cover defects were discovered. The results of stress and strain values obtained with the support of finite element simulation showed that temperature and friction coefficient have an effect on forging defects. The experimental results were found to be in agreement with the finite element simulation results. © 2025 Elsevier B.V., All rights reserved
Nurses' preparedness for disasters: Perceptions and levels of psychological resilience
No full textAim: This study investigates the relationship between nurses' disaster preparedness, the factors influencing it, and nurses' psychological resilience. Background: The International Council of Nursing considers disaster preparedness and response to be essential qualifications for nurses. Nurses' resilience levels have a significant impact on their professional behavior under challenging circumstances, such as disasters, resulting in improved patient care and satisfaction. Methods: This cross-sectional study involved 400 nurses employed at secondary and tertiary healthcare institutions in a city in Turkey. Data were collected through face-to-face interviews using a descriptive questionnaire, the nurses' perception of disaster preparedness scale (NP-DPS), and the Connor-Davidson resilience scale (CD-RISC). Results: Participants' average age was 32.29 +/- 7.12 years, and 75.3% were female. The average total score on the NP-DPS was 78.64 +/- 9.47, with notably lower scores observed in the intervention subscale. Nurses with higher education levels, prior disaster training and experience, a sense of preparedness for disasters, and a passion for their profession had significantly higher average scores (p < 0.05). The results indicate that the nurses' psychological resilience was at a moderate level, and disaster preparedness was identified as the most significant predictor (R-2 = 0.214, p <= 0.001). Conclusion: Nurses' disaster preparedness is influenced by their education level, disaster training, previous volunteer experience in disasters, passion for the profession, and psychological resilience. Healthcare administrators can enhance nurses' disaster preparedness by providing targeted support and resources. Implications for nursing policy: The results highlight the need for national policies that integrate nurses' professional competencies and resilience for effective disaster responses and emphasize the importance of disaster preparedness training programs for nurses. Managers play a crucial role in implementing these national and international policies
Satisfaction levels of patients with musculoskeletal problems treated with physical therapy modalities: A multi-center study
No full textObjectives: This study aims to assess patients' level of satisfaction with physical therapy modalities from different centers in T & uuml;rkiye. Patients and methods: In this cross-sectional study, a Patient Satisfaction Questionnaire in the Treatment with the Physical Therapy Modalities was created by the Turkish Society of Physical Medicine and Rehabilitation, the Physical Therapy Modalities Working Group and it was applied to a total of 2,466 patients (847 males, 1,619 females; mean age: 51.8 +/- 14.6 years; range, 18 to 90 years) from 13 different hospitals. The participants were selected from patients who were treated in the physical therapy and rehabilitation departments of nine universities and four training and research hospitals for musculoskeletal complaints. The questionnaire included questions assessing demographic data, disease characteristics and level of satisfaction with the treatment program. Consecutive patients that were enrolled in treatment programs for musculoskeletal problems were included in the study. Results: The cumulative rate of patients who were very satisfied and satisfied with these treatments was 54.1%. The higher the education level, the higher the satisfaction rate was. The satisfaction level of the currently employed was higher than that of retirees. The patients who were most satisfied with physical therapy were those who presented with cervical spinal complaints. The rate of patients who never received physical therapy before was 51.5%, indicating higher satisfaction levels. Outpatient physical therapy patients reported higher satisfaction rates than inpatients. The patients conveyed their satisfaction with the therapist performing the treatment and expressed their intention to choose physical therapy again, if necessary. Conclusion: Patients express high levels of satisfaction with physical therapy modalities, and they encounter minimal or no issues in practice
Reduced Graphene Oxide, Molybdenum Disulfur, Polythiophene and Carbon Black Nanocomposite Formation and Their Supercapacitor Evaluations
No full textIn this paper, graphene oxide (GO), reduced graphene oxide (rGO), molybdenum disulfide (MoS2), polythiophene (PTh), GO/MoS2/PTh, rGO/MoS2/PTh, and rGO/MoS2/PTh/carbon black (CB) nanocomposites were firstly synthesized to be used as a component of electrode material for supercapacitor devices. Thiophene monomer was chemically synthesized by an in-situ oxidation polymerization method. The microwave-irradiation method was used to form the reduction process of GO. The materials were characterized by scanning electron microscopy, energy dispersive x-ray analysis, atomic force microscopy, thermogravimetric analysis (TGA) and, differential thermal analysis, Fourier transform infrared spectroscopy, and attenuated total reflectance analysis, Brunauer-Emmett-Teller analysis, four-point probe conductivity, cyclic voltammetry, galvanostatic charge-discharge and electrochemical impedance spectroscopy analysis. The TGA analysis shows that PTh has the most degradable material due to small polymer chains. However, the highest thermal stability (98.56%) was obtained for MoS2. The temperature raised up to 982 degrees C. Moreover, the highest specific capacitance was calculated as Csp = 1588.72 F/g at 2 mV/s for the rGO/MoS2/PTh nanocomposite in a 6 M KOH electrolyte solution. In addition, the highest energy and power densities, specific capacitive retention, and the lowest equivalent series resistance (ESR) were presented for this nanocomposite as E = 3.20 Wh/kg at 10 mA, P = 1152.5 W/kg at 10 mA, 111.48% after 1000 charge-discharge cycles and ESR = 0.05 Omega at 10 mA, respectively. Equivalent ladder circuit model of Rs(C1(R1(R2C2))) was also evaluated to interpret theoretical and experimental data using ZSimpWin 3.22 program. Results are compatible with each other. An easy preparation method and eco-friendly synthesis were reported for rGO/MoS2/PTh/CB nanocomposite for next generation supercapacitor evaluations.Tekirdag Namik Kemal University [NKUBAP.01, YL.21.350]; Scientific and Research Project Unit (Tekirdag Namik Kemal University)This work is a partly supported by the Scientific and Research Project Unit (Tekirdag Namik Kemal University) (project number: NKUBAP.01.YL.21.350). Thank you for this research grant
Do ethical views of end-of-life patients' family members impact organ donation decisions?
No full textBackground: The relatives of patients who decide to donate their loved one's organs experience dilemmas about organ donation and are affected by culture, religion, and individual views. Aim: The aim of this study was to determine the relationship between the ethical position and personal characteristics of the family members of the patients receiving end-of-life care and their thoughts about organ donation in Turkey. Research design and participants: The study was completed with 158 family members. For data collection, a personal information form and the Ethics Position Questionnaire were used. Ethical considerations: This study was obtained from the ethics committee of the faculty of medicine in Turkey. It was based on voluntary participation, informed consent, confidentiality, and anonymity. Results: All participants in the study shared the same faith and were Muslims. The idealism and relativism tendencies of the participants tended to be high. The number of children, the participants have, participants' status of waiting for an organ transplant, the view that the clergy and health personnel will increase interest in organ donation were identified as factors associated with idealism tendencies. Participants' status of having children, the number of children participants have, participants' status of organ transplant waiting, the view that the health personnel will increase interest in organ donation were identified as factors associated with relativism tendencies (p < 0.0.5). Conclusion: The results of this study demonstrated a relationship between participants' idealism and relativism tendencies, among those with a large number of children, waiting for organ donation, advocating for clergy guidance to increase organ donations, and believing healthcare professionals need not guide to increase organ donations. In light of this finding, it may be recommended to establish a multidisciplinary team, including healthcare professionals and clergy, and to inform the society with accurate information to increase the number of organ donations
The effects of an early childhood sensory development support program on children between the ages of 60 and 72 months in terms of their development, sensory characteristics, and learning behaviors
No full textBu araştırmada, Erken Çocukluk Duyusal Gelişim Destek Programının 60-72 aylık çocukların gelişimlerine, duyusal özelliklerine ve öğrenme davranışlarına etkisi incelenmesi amaçlanmıştır. Araştırmada, nicel araştırma yöntemlerinden öntest-sontest eşleştirilmiş kontrol gruplu yarı deneysel desen kullanılmıştır. Araştırmanın çalışma grubunu, MEB'e bağlı okul öncesi eğitim kurumunda öğrenim gören ve normal gelişim gösteren 60-72 aylık çocuklardan oluşmaktadır. Kolay ulaşılabilirlik örnekleme yöntemi ile benzeşik örnekleme kullanılmıştır. Araştırmanın verileri, Anne R. Sanford ve Janet G. Zelman tarafından (1981) geliştirilen, Tunçeli (2017) tarafından uyarlanan "LAP-3 Gelişim Değerlendirme Ölçeği", Tezcan (2020) tarafından geliştirilen "Duyusal Değerlendirme Formu" ile McDermott, Green, Stott ve Francis (2000) tarafından geliştirilen, Veziroglu-Çelik ve Acar (2018) tarafından uyarlanan "Okul Öncesi Öğrenme Davranışları Ölçeği" kullanılarak toplanmıştır. Araştırmacı tarafından geliştirilen Erken Çocukluk Duyusal Gelişim Destek Programı (EÇDuGeD-P), 60-72 aylık çocukların içsel ve dışsal duyuları geliştirmeyi amaçlayan öğrenmeyi arttırıcı tekrarlı ve aktif katılım gerektiren üç aşamalı modül olarak tasarlanmıştır. Modüller; birbirini takip eden başlangıç, geliştirici ve tamamlayıcı düzeylerden oluşmaktadır. Program haftada 5 gün, 50 dakikalık oturumlar ile toplamda 12 hafta boyunca uygulanmıştır. Araştırmanın nicel verileri Sosyal Bilimler için İstatistik Programı kullanılarak analiz edilmiştir. Veri analizinde Bağımsız Örneklem T testi, Mann Whitney U testi ve ANCOVA analizi kullanılmış olup Cohen's d etki büyüklükleri hesaplanmıştır. Araştırma sonucunda, EÇDuGeD Programının deney grubundaki çocukların gelişimlerine, duyusal özelliklerine ve öğrenme davranışlarına anlamlı bir etkisinin olduğu tespit edilmiştir. Programa katılan çocukların gelişim puanlarında anlamlı bir artış ve duyusal problemlerinde anlamlı bir azalış saptanmıştır. Ayrıca, dikkat, motivasyon gibi öğrenme davranışlarında da deney grubu lehine anlamlı farklılıklar tespit edilmiştir. Bu bulgular alanyazında tartışılmış ve programının yaygınlaştırılmasına yönelik önerilere yer verilmiştir.This research aims to examine the effect
The Gagauz of Edirne
No full textThe environment provides by Pax Ottomana across the vast geography of the Ottoman Empire encouraged the coexistence of diverse ethnic and religious communities which contributed to the development of a culture of coexistence and created a legacy whose traces are still felt. The Gagauz people were a part of the region’s rich Ottoman cultural heritage. However, their absence from records complicates researching their past. This study, which was designed in the form of cultural analysis, aims to identify and map the pre-migration Gagauz settlements in Edirne region. The research data includes official records, archives and bibliography and the examination of accessible maps to determine the settlements of the Gagauz community. The data were thematically transformed into findings, summarized and interpreted according to their characteristics. As part of the study, charts and maps were produced to document the former and current names of the historical Gagauz settlements in Edirne region