137 research outputs found
A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient
No full textRecessive mutations in COL11A2 (collagen, type XI, alpha 2), are responsible for otospondylomegaepiphyseal dysplasia (OSMED) and non-syndromic hearing loss while dominant mutations are associated with Stickler type III, isolated cleft palate, Robin sequence, non-ophthalmic Stickler syndrome, early onset osteoarthritis and autosomal dominant hearing loss. We describe here the clinical findings of two Turkish cousins with OSMED carrying a novel homozygous truncating mutation in exon 38 of COL11A2 gene, c.2763delT, identified on cDNA and confirmed at gDNA. This mutation is located on triple helix repeat domain of the collagen alpha-2 (XI) chain, where the majority of the previously identified mutations are located. Real-time RT-PCR experiment provided that mutated transcript does not decay completely. Although our analysis displays the partial survival of the mutant transcript from blood tissue, not from cartilage, we propose that this mechanism may play an important role on the variable expressivity of the heterozygous COL11A2 gene mutations. (C) 2010 Wiley-Liss, Inc
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss
No full textMutations in genes encoding gap- and tight-junction proteins have been shown to cause distinct forms of hearing loss. We have now determined the GJB2 [connexin 26 (Cx26)] mutation spectrum in 60 index patients from mostly large Turkish families with autosomal-recessive inherited non-syndromic sensorineural hearing loss (NSSHL). GJB2 mutations were found in 31.7% of the families, and the GJB2- 35delG mutation accounted for 73.6% of all GJB2 mutations. The carrier frequency of GJB2- 35delG in the normal Turkish population was found to be 1.17% (five in 429). In addition to the described W24X, 233delC, 120delE and R127H mutations, we also identified a novel mutation, Q80R, in the GJB2 gene. Interestingly, the Q80R allele was inherited on the same haplotype as V27I and E114G polymorphisms. As little is known about the mutation frequencies of most other recently identified gap- and tight-junction genes as a cause for hearing loss, we further screened our patients for mutations in GJB3 (Cx31), GJA1 (Cx43), DeltaGJB6 -D13S1830 (Cx30) and the gene encoding the tight-junction protein, claudin 14 (CLDN14 ). Several novel polymorphisms, but no disease-associated mutations, were identified in the CLND14 and GJA1 genes, and we were unable to detect the DeltaGJB6 -D13S1830 deletion. A novel putative mutation, P223T, was found in the GJB3 gene in heterozygous form in a family with two affected children. Our data shows that the frequency of GJB2 mutations in Turkish patients with autosomal-recessive NSSHL and the carrier rate of the GJB2- 35delG mutation in the Turkish population, is much lower than described for other Mediterranean countries. Furthermore, mutations in other gap- and tight-junction proteins are not a frequent cause of hearing loss in Turkey
Bibliometric analysis of the results of Reiki research
No full textIntroduction: This study analyses bibliometric indicators to assess global research trends on Reiki, including publication patterns and key contributing countries. Methods: The publications included in Web of Science (WOS) databases between 1970 and 2024 were reviewed. The WOS database was searched using TS= “REIKI” and all WOS indexes were included. This search identified 414 studies. Among them, letters (n = 7), editorial materials (n = 19), book reviews (n = 9), corrections (n = 2), art and poetry (n = 1), news (n = 1), and retracted publications (n = 1) were removed. The remaining 374 articles were included in this bibliometric analysis. The R-package for bibliometric analysis (Bibliometrix) was used. Results: The bibliometric analysis found that researchers published Reiki-related studies between 1983 and 2024, with a publication growth rate of 4.47 %. On average, articles were 9.5 years old and received 13 citations per document. The total number of keywords identified by the authors was 553, the number of authors in the articles was 1124 authors, the number of single-author articles was 70, the average number of publications per author was 3.5, and international co-authorships were 7.219 %. The USA, Brazil, the United Kingdom, Canada, and Turkiye were the top five countries that published on Reiki, respectively. The USA, Canada, the United Kingdom, Australia, and Turkiye were the top five countries with the most cited articles, respectively. Vitale A. is the most cited author. Journal of Alternative and Complementary Medicine is the most cited journal. Conclusion: This study is the first of its kind to evaluate the articles written by researchers in the field of Reiki only. Despite the difficulties researchers experienced in the field of Reiki, the studies have increasingly been conducted in this field over the years and have been cited studies more. This study may be helpful for researchers to determine productive countries, journals, authors, and emerging trends in Reiki by providing comprehensive analyses and structured information on this subject. © 202
mutations causes different types of Waardenburg syndrome
No full textType I Waardenburg syndrome (WS-I) is an auditory-pigmentary syndrome caused by heterozygous loss of function mutations in the PAX3 gene. Klein-Waardenburg syndrome (WS-III) is a very rare condition and represents an extreme presentation of WS-I, additionally associated with musculoskeletal abnormalities. We present an 18-months old Turkish child with typical Klein-Waardenburg syndrome (WS) including dystopia canthorum, partial albinism, and upper-limb defects. The child was born to a consanguineous couple and both parents had WS-I. We screened the entire coding region of the PAX3 gene for mutations and identified a novel missense mutation, Y90H, within the paired box domain of PAX3. Both parents were heterozygous for the mutation and the proposita was homozygous. This is the third report of a homozygous PAX3 mutation causing the WS-III phenotype. Molecular analysis of four additional Turkish families with variable clinical expression of WS-I identified two missense mutations, one splice-site mutation, and one small insertion in the PAX3 gene. (C) 2003 Wiley-Liss, Inc
Experimenting and thematically analyzing the project study to increase effectiveness of the case of the formation of seasons
No full textTeacher education is a critical component of the educational system, as it provides the skills and knowledge necessary for effective instruction in science and other related subjects. The purpose of this research is to enhance the incomplete and incorrect knowledge and skills of science teachers related to the formation of seasons by using a physical model that reveals the “change in the amount of energy per unit surface (CAEUS)”. Twenty-nine teachers from different regions of the country conducted experimental studies with physical models related to the formation of seasons, as part of a 5-day training program that included topics on astronomy. In this study, in which descriptive statistics, inferential statistics, and thematic analysis were used, it was observed that the comprehension of the causes and effects of the change in the amount of energy per unit surface was very successful in the development of mental models for understanding the seasons. Furthermore, the teachers reported that they were able to use the knowledge and skills they gained from the program in their teaching practice. The results obtained were compared with the literature and interpreted accordingly. © The Author(s), under exclusive licence to Springer Nature Switzerland AG 2023
Evaluation of Spiritual Care and Well-Being Levels of Individuals Diagnosed with Lung Cancer in Turkey
No full textThis study aimed to assess the spiritual care needs and spiritual well-being levels of lung cancer patients undergoing chemotherapy (CT). This descriptive cross-sectional study was conducted with 110 patients in the outpatient CT unit of a university hospital. Data were collected using a personal information form, the “Three-Factor Spiritual Well-Being Scale” and the “Spiritual Care Needs Scale.” The average age of participants was 62.6 ± 8.0 years. Patients with a university or above education level, civil servants, self-employed individuals, those receiving only CT, and those with less than 5 CT cycles had significantly higher spiritual well-being scores (p < 0.05). Spiritual care needs scale scores were significantly higher for married individuals and those receiving only CT (p < 0.05). In conclusion, both spiritual well-being levels and spiritual care needs were observed to be high among lung cancer patients. © The Author(s) 2024
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family
No full textDominant mutations in the GJB2 gene encoding connexin 26 (Cx26) can cause non-syndromic hearing impairment alone or in association with palmoplantar keratoderma (PPK). We have identified the novel G224A (R75Q) mutation in the GJB2 gene in a four-generation family from Turkey with autosomal dominant inherited hearing impairment and PPK. The age of onset and progression of hearing loss were found to be variable among affected family members, but all of them had more severe impairment at higher hearing frequencies. Interestingly, the novel R75Q mutation affects the same amino acid residue as described recently in a small family (R75W) with profound prelingual hearing loss and PPK. However, the R75W mutation was also observed in a control individual without PPK and unknown hearing status. Therefore, the nature of the R75W mutation remains ambiguous. Our molecular findings provide further evidence for the importance of the conserved R75 in Cx26 for the physiological function of the inner ear and the epidermal cells of the skin
A novel neighborhood generation method for heuristics and application to traveling salesman problem
No full textÖztürk, Melike (Dogus Author) -- Conference full title: International Conference on Intelligent and Fuzzy Systems, INFUS 2019; Istanbul; Turkey; 23 July 2019 through 25 July 2019.This paper presents a novel neighbor generation mechanism for heuristic algorithms in which a permutation solution representation is utilized. The mechanism, called cantor-set based (CB) method, is inspired by the recursive algorithm which is used to construct a famous fractal shape, namely a cantor set. CB method was embedded into the classical local search (LS) algorithm to show its advantage of escaping from local optima providing big jumps in the landscape. CB method benefits from the self-similarity aspect of the fractal shapes to generate neighbor solutions Several variations of the CB method were designed to find the most effective variation on the classical traveling salesman problem (TSP). To make comparisons, swap and insertion mechanisms were also embedded into LS separately for solving the TSP. Finally, the methods were compared using a set of benchmark problems with varying city sizes. The computational tests exhibit that CB method gives better results than swap and insertion mechanisms in terms of effectiveness
Helmholtz principle based supervised and unsupervised feature selection methods for text mining
No full textTutkan, Melike (Dogus Author) -- Akyokuş, Selim (Dogus Author)One of the important problems in text classification is the high dimensionality of the feature space. Feature selection methods are used to reduce the dimensionality of the feature space by selecting the most valuable features for classification. Apart from reducing the dimensionality, feature selection methods have potential to improve text classifiers' performance both in terms of accuracy and time. Furthermore, it helps to build simpler and as a result more comprehensible models. In this study we propose new methods for feature selection from textual data, called Meaning Based Feature Selection (MBFS) which is based on the Helmholtz principle from the Gestalt theory of human perception which is used in image processing. The proposed approaches are extensively evaluated by their effect on the classification performance of two well-known classifiers on several datasets and compared with several feature selection algorithms commonly used in text mining. Our results demonstrate the value of the MBFS methods in terms of classification accuracy and execution time
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