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Bilinen Metabolik Hastalıklar ve Sendromlar ile İlişkilendirilemeyen Konjenital/Gelişimsel Kataraktlarda Yeni Nesil Dizileme ile Moleküler Etiyolojinin Araştırılması
No full textProje No: THD-2017-11983The aim of the study was to identify the molecular etiology in patients with congenital/developmental cataract which can not be attributed to known metabolic diseases or syndromes by next generation sequencing. A total of four patients (three girls and one boy) who had isolated bilateral cataract were enrolled in the study after detailed genetic and metabolic evaluation. Two patients had nuclear, one patient had total and one patient had combined lamellar and sutural cataract. All patients underwent bilateral lensectomy and anterior vitrectomy. One family had consanguinity. DNA (Deoxyribonucleic Acid) was extracted from peripheral blood of probands and selected affected individuals in the family. Whole exome sequencing (WES) was performed by IonProton® technology. The results were confirmed by Sanger sequencing. Heterozygous c.215+1G>A mutation in CRYBA1 was detected in one patient, heterozygous c.432C>G (p.Tyr144Ter) mutation in CRYGC was detected in one patient, heterozygous c.70A>C (p.Pro24Thr) mutation in CRYGD was detected in one patient and heterozygous c.466G>A (p.Gly156Arg) mutation in CRYBB3 was detected in one patient. All these mutations were also detected in selected affected individuals of the families and were located on the crystalline genes which have been previously reported to be associated with congenital cataract. The study highlights that crystalline genes should be considered in the first place when performing studies regarding the genetic etiology of the congenital cataract in our country and the implementation of WES as a useful technology in identifying the genetic basis of complex diseases such as congenital cataract. In addition, the present study has a unique property and is the first report of whole exome sequencing data in regard with congenital cataract in our country.Bu çalışmada amaç bilinen bir metabolik hastalık ve sendrom ile ilişkilendirilemeyen konjenital/gelişimsel kataraktı olan hastalarda yeni nesil dizileme ile moleküler etiyolojiyi tanımlamaktı. Çalışmaya ayrıntılı genetik ve metabolik değerlendirme sonrasında izole bilateral kataraktı olan üç kız bir erkek toplam dört hasta dahil edildi. İki hastada nükleer, bir hastada total, bir hastada ise kombine lamellar ve sütüral katarakt mevcuttu. Tüm hastalara bilateral lensektomi ve ön vitrektomi uygulandı. Bir ailede akraba evliliği mevcuttu. Hastaların ve ailedeki seçilmiş etkilenmiş bireylerin periferik kanından DNA (Deoksiribonükleik Asit) izole edildi. Tüm ekzom sekanslama (WES, Whole Exome Sequencing)) IonProton® teknolojisi ile yapıldı. Sonuçlar Sanger sekanslama ile konfirme edildi. Bir hastada CRYBA1 geninde heterozigot c.215+1G>A, bir hastada CRYGC geninde heterozigot c.432C>G (p.Tyr144Ter), bir hastada CRYGD geninde heterozigot c.70C>A (p.Pro24Thr) bir hastada ise CRYBB3 geninde heterozigot c.466G>A (p.Gly156Arg) mutasyonu saptandı. Tüm bu mutasyonlar ailenin seçilmiş etkilenmiş bireylerinde de gösterildi ve daha önce konjenital katarakt ile ilişkili olduğu bildirilmiş kristalin genleri üzerindeydi. Bu çalışma, ülkemizde konjenital kataraktın genetik etiyolojisine yönelik yapılan çalışmalarda kristalin genlerinin öncelikle düşünülmesi gerektiğini ve WES’in konjenital katarakt gibi kompleks hastalıklarda genetik temeli tanımlamakta yararlı bir teknoloji olarak kullanımını vurgulamaktadır. Ayrıca, bu çalışma benzersiz bir özelliğe sahiptir ve ülkemizde konjenital kataraktın tüm ekzom sekanslama bilgisine dair ilk bildiridir
Strabismus In Geriatric Patients: Etiology And Clinical Features
No full textIntroduction: As life expectancy is continuously increasing, health issues, such as strabismus that has a functional and psychosocial impact on the quality of life, have gained more importance and require a solution. In the present study, we aimed to describe and determine the strabismus etiology and clinical features in patients aged >= 65 years who were examined in a strabismus clinic. Materials and Method: We retrospectively examined the data of patients aged >= 65 years who were admitted to the strabismus clinic between July 2018 and July 2019. The findings of the ophthalmological and orthoptic examination as well as the strabismus etiology, intervention required, and chief complaints were all recorded. Results: We extracted the medical records of 40 patients (16 female and 24 male) aged >= 65 years who were examined in the strabismus clinic. The chief complaint was diplopia in 30 (75%) patients, followed by ocular deviation in 10 (25%) patients. The deviation was horizontal in 26 (65%) patients. The most common etiology was thyroid eye disease (6 patients; 15%), followed by diabetes (5 patients, 12.5%), hypertension (5 patients, 12.5%), trauma (3 patients, 7.5%), cerebrovascular event (3 patients, 7.5%), intracranial mass (3 patients, 7.5%), and secondary deviation (3 patients, 7.5%). Moreover, 11 (27.5%) patients underwent surgery, whereas 17 (42.5%) patients received nonsurgical treatment; 14 (35%) patients did not re-visit the strabismus clinic. Conclusion: Strabismus can be seen in elderly individuals. The underlying etiology, such as trauma and cerebrovascular events, may be life threatening and requires prompt diagnosis and treatment.WoSScopu
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Get PDFWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
Author-wise bibliometric analysis based on entropy.
No full textAuthor-wise bibliometric analysis based on entropy.</p
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