İstanbul Galata Üniversitesi Kurumsal Akademik Arşivi
DSpace@Galata, İstanbul Galata Üniversitesi tarafından doğrudan ve dolaylı olarak yayınlanan; kitap, makale, tez, bildiri, rapor, araştırma verisi gibi tüm akademik kaynakları uluslararası standartlarda dijital ortamda depolar, Üniversitenin akademik performansını izlemeye aracılık eder, kaynakları uzun süreli saklar ve telif haklarına uygun olarak Açık Erişime sunar.
Güncel Gönderiler
Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1
(Springer Science and Business Media Deutschland GmbH, 2025) Yeter, Burcu; Demirkol, Yasemin Kendir; Usluer, Esra; Oğuz, Sümeyra; Eser, Metin; Yarar, Murat Hakkı; Canbek, Sezin
Wiedemann-Steiner syndrome (WSS) is a rare autosomal dominant neurogenetic disorder caused by monallelic variants in KMT2A gene, characterized by neuromotor developmental delay, intellectual disability, microcephaly, seizures, behavioral disorders, dysmorphic facial features, hirsutism, and systemic anomalies. The KMT2A gene encodes a histone lysine methyltransferase crucial for the regulation of gene expression during early developmental stages. In this study, the clinical and molecular findings of 15 Turkish patients with WSS confirmed by whole exome sequencing are reported. Variant segregation was confirmed in all families. The ages of the patients were between 1.5 and 16 years. The majority of patients had neuromotor developmental delay, speech delay, and intellectual disability. The most frequently recognised dysmorphic facial features were thick eyebrows, long eyelashes, synophrys, hypertelorism, and broad nose. Other frequently observed clinical findings included short stature, congenital hypotonia, behavioral problems, genitourinary anomalies, and abnormal gait. Novel findings included focal segmental glomerulosclerosis, cholelithiasis, and sacrococcygeal teratoma. Fifteen different KMT2A variants were detected, including 8 novel (p.Gln3594*, p.Glu1407Argfs*4, p.Ser610Ilefs*9, p.Ser2188Leufs*25, p.Glu970Glnfs*37, p.Ser759Valfs*22, p.Lys1346Serfs*24, and c.11146 + 1_11146 + 6delinsA) variants. Additionally, one patient exhibited a dual molecular diagnosis with a de novo variant in CSNK2A1, associated with Okur-Chung neurodevelopmental syndrome. Conclusion: This study expands the clinical and molecular spectrum of WSS, highlighting novel variants and unique manifestations. It emphasizes the importance of molecular testing in accurate diagnosis and management. By characterizing phenotypic diversity and dual diagnosis, this work contributes valuable insights for advancing clinical care and guiding future research. (Table presented.)
Neuropsychiatry of psychological resilience: An overview
(Istanbul Medipol University, 2025) Eroğlu, İpek; Macit, Çağlar; Gezgin, Ulaş Başar; Omurtağ, Gülden Zehra; Himmetoğlu, Asena
Psychological resilience is the operational software of competencies that enables us to cope positively with life’s drawbacks. As with all competencies and associated skills, the level of psychological resilience may vary among in-dividuals. This research addresses the neuropsychiatric dimension of psychological resilience and discusses its potential applications in improving public health and pharmacy practices. To conduct a modeling study to identify, di-agnose and disseminate to the society the individual characteristics that con-stitute the building blocks of a resilient society that will cope with pandemics, climate change, wars, waves of migration, inability to meet the basic needs of the increasing population and infrastructure problems, global economic crisis, technological challenges, digital transformation pressure, disruptive changes, and the VUCA (volatility, uncertainty, complexity, ambiguity) world environ-ment, led us to a detailed literature review. Neuropsychiatry of psychological resilience is exemplified by recent global developments, biological underpinnings, genetic variations, clinical perspectives, and developmental aspects.
Development and Evaluation of an Electronic Nursing Process System for Cardiology Nurses Based on the Functional Health Patterns Model
(Lippincott Williams and Wilkins, 2025) Enç, Nuray; Türen, Sevda; Şendir, Merdiye
The research was conducted to develop and evaluate an electronic nursing process system for cardiology nurses according to the functional health patterns model. A design-based research method was used, in which quantitative and qualitative research methods were used together. The sample of the study consisted of 25 cardiology nurses working in a university hospital who had not used a system created according to the functional health patterns model before and 8 subject matter experts. A snowball sampling method was used. The research process was carried out within the framework of the five cycles of design-based research: analysis, design, development, implementation, and evaluation. Face-to-face interviews were used to collect data from nurses and subject matter experts regarding the features that the ideal electronic nursing process system will create according to the functional health patterns model. After the system was developed in accordance with these data, the system was tested three times by the nurses and experts in the sample group on 11 defined tasks in terms of effectiveness, efficiency, and satisfaction of the participants, using success rate and completion time criteria through observations of effectiveness and efficiency. The satisfaction level was measured through semistructured interviews with the sample group. Data were analyzed using content analysis. The system was redeveloped based on the findings obtained after analyzing the data collected after each test. With the last development made after the third test, the system was given its final form. At the end of the study, it was revealed that the electronic nursing process system developed according to the functional health patterns model for cardiology nurses was effective and efficient and the satisfaction level of the users with the system was high.
The automation trap: Unpacking the consequences of over-reliance on AI in education and its hidden costs
(IGI Global, 2025)
With the growing presence of artificial intelligence (AI) in classrooms, its influence on how students think, learn, and interact deserves close scrutiny. However, its increasing integration and accessibility raise concerns about AI dependency among students. Excessive reliance on AI may weaken essential cognitive skills, including critical thinking, problem-solving, and creativity, which are crucial for academic and professional success. Moreover, diminished human interaction with teachers and peers threatens the human aspect of education. This chapter critically examines the risks of AI over-reliance, emphasizing its long-term consequences on student development. Left unchecked, this dependency may lead to superficial learning and hinder the cultivation of independent thought. The normalization of AI-generated outputs may also blur the line between authentic learning and algorithmic convenience. It highlights the shift from AI as a supportive tool to a potential source of dependency and advocates for a more balanced, human-centered integration of technology in education.
The effect of endurance-based sports on athlete success and psychological well-being
(Campus EDUCA SPORTIS S.L., 2025) Özpinar, Saliha; Yüce, Ali Serdar; Korkmaz, Murat; Öztaş, Dilek; Aras, Gökşen
The aim of this study is to examine the effects of psychological resilience on sport success and mental health. The relationships between commitment, control and challenge, which are sub-dimensions of psychological resilience, and sport success and psychological well-being were evaluated and discussed in detail. Today, the problems arising due to the increasing competitive environment and stress factors have made it more important for athletes to be psychologically strong. Although the relationship between psychological resilience and sport success has been previously examined in the literature, studies evaluating the individual effects of the sub-dimensions of resilience in a large sample group are quite limited. This study aims to overcome this deficiency and make an up-to-date contribution to the subject. A total of 684 students (72 percent male, 28 percent female) studying at the Faculties of Sport Sciences of 16 universities in Istanbul, Ankara, Izmir, Bursa and Antalya participated in the study. Participants completed the Resilience Scale and Mental Health Inventory, and their sporting achievements were evaluated by their coaches using the Sport Achievement Scale. Data were collected via Google Forms® and analysed using SPSS 22.0 software with correlation, regression and Granger causality tests. The findings revealed that all resilience sub-dimensions showed positive and significant relationships with sport achievement (R²=0.93) and psychological well-being (R²=0.68). Especially control and challenge factors had the strongest effects. As a result of the research, commitment, control and challenge, which are the sub-dimensions of psychological resilience, significantly affect both success levels and psychological well-being of athletes. Therefore, resilience development programmes for athletes should focus on these areas.
