Browsing by Author "Aktan G."

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    Childhood onset limb-girdle muscular dystrophies in the aegean part of Turkey
    (Pacini Editore S.p.A., 2018) Yiş U.; Diniz G.; Hazan F.; Daimagüler H.S.; Baysal B.T.; Baydan F.; Akinci G.; Ünalp A.; Aktan G.; Bayram E.; Hiz S.; Paketçi C.; Okur D.; Özer E.; Danyeli A.E.; Polat M.; Uyanik G.; Çirak S.
    The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where SGCG proved to be disease-causing in most of the cases. About half of the patients were diagnosed with whole exome or targeted gene sequencing. A positive correlation between muscle biopsy and genetic findings were observed in 11% of the patients. We report one novel frameshifting mutation in TTN. Knowledge on frequencies of childhood-onset limb-girdle muscular dystrophies and related genes in Turkey will lead to a prompt diagnosis of these neuromuscular disorders. © 2018 Pacini Editore S.p.A. All rights reserved.
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    Therapeutic implications of etiology-specific diagnosis of early-onset developmental and epileptic encephalopathies (EO-DEEs): A nationwide Turkish cohort study
    (W.B. Saunders Ltd, 2024) Kanmaz S.; Tekgul H.; Kayilioglu H.; Atas Y.; Kart P.O.; Yildiz N.; Gumus H.; Aydin K.; Olculu C.B.; Dogan D.E.T.; Per H.; Canpolat M.; Gulec A.; Yildirim N.; Turk E.; Celik N.; Ozturk S.; Kumandas S.; Kilic B.; Topcu Y.; Ozpinar E.; Coskun A.; Arslan M.; Akkoyunlu D.S.; Cine N.; Uzan G.S.; Gunay C.; Akyol D.; Ersoy O.; Direk M.C.; Komur M.; Kirkgoz H.; Karaoğlu P.; Ibis I.B.P.; Cerci C.; Orak A.; Oktay S.; Ayanoglu M.; Yildirim M.; Bektas O.; Serdaroglu E.; Yilmaz S.B.; Cankurt I.; Hirfanoglu T.; Arhan E.; Gencpinar P.; Dundar N.O.; Teber S.; Serin H.M.; Yilmaz S.; Tosun A.; Polat M.; Yilmaz U.; Unalp A.; Kara B.; Okuyaz C.; Yis U.; Hiz S.; Aktan G.; Gokben S.; Unay B.; Serdaroglu A.; Cansu A.
    Objective: To evaluate the etiology-specific diagnosis of early-onset developmental epileptic encephalopathies (EO-DEEs) in a nationwide Turkish cohort to determine the implications for therapeutic management. Methods: The cohort comprised 1450 patients who underwent EO-DEE. The utility of genetic testing was assessed with respect to the initial phases of next generation sequencing (NGS) (2005–2013) and the current NGS era (2014–2022). A predefined four-stepwise diagnostic model was evaluated using cost-effectiveness analysis. The diagnostic and potential therapeutic yields of the genetic tests were subsequently determined. Results: Gene-related EO-DEEs were identified in 48.3 % (n = 701) of the cohort: non-structural genetic (62.6 %), metabolic genetic (15.1 %), and structural genetic (14.1 %). The most common nonstructural genetic variants were SCN1A (n = 132, 18.8 %), CDKL5 (n = 30, 4.2 %), STXBP1 (n = 21, 2.9 %), KCNQ2 (n = 21, 2.9 %), and PCDH19 (n = 17, 2.4 %). The rate of ultra-rare variants (< 0.5 %) was higher in the NGS era (52 %) than that in the initial phase (36 %). The potential therapeutic yields with precision therapy and antiseizure drug modification were defined in 34.5 % and 56.2 % in genetic-EO-DEEs, respectively. The diagnostic model provided an etiology-specific diagnosis at a rate of 78.7 %: structural (nongenetic) (31.4 %), genetic (38.5 %), metabolic (6.1 %), and immune-infectious (2.8 %). Based on a cost-effectiveness analysis, the presented diagnostic model indicated the early implementation of whole-exome sequencing for EO-DEEs. Significance: In the present cohort, the higher rate (48.3 %) of gene-related EO-DEE diagnoses in the NGS era provides a potential therapeutic management plan for more patients. © 2024 British Epilepsy Association
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    Knowledge, Homophobic Attitudes and Behaviors of Medical Students Towards LGBTI+ Individuals: Descriptive Study; [Tıp Fakültesi Öğrencilerinin LGBTİ+ Bireyler ile İlgili Bilgi, Homofobik Tutum ve Davranışları: Tanımlayıcı Çalışma]
    (Turkiye Klinikleri, 2024) Bilgin Şahin B.; Akman D.; Cengiz Özyurt B.; Toraman U.C.; Aktan G.; Cidani B.; Güneş D.; Demir G.; Özen G.; Sergin F.; Tokmak A.A.; Aktay F.
    Objective: The aim of this study is to evaluate the knowledge, behavior, and homophobic attitudes of students in the fourth, fifth and sixth years of the Faculty of Medicine towards LGBTI+ individuals. Material and Methods: The population of the research consists of 607 people who are fourth, fifth and sixth year students at Manisa Celal Bayar University Faculty of Medicine. No sample was selected in the research, and it was aimed to reach the entire population. The participation rate was 46.8% (n=284). The data for the study were collected through an online questionnaire. The questionnaire included questions about sociodemographic characteristics, knowledge, attitude, and behavior towards LGBTI+ individuals, and the Hudson Rickkets Homophobia scale. Results: The research group had an average age of 23.4±1.1 years, with 54.9% women and 45.1% men. Concerning sexual orientation, 90.1% of the group identified as heterosexual, 4.6% as, lesbian/gay and 4.2% as bisexual. The average score of the students on the Hudson and Ricketts Homophobia Scale was 65.14±27.87. There was no significant difference in the mean scores between classes (p>0.05). Students who live in extended families, identify as male, lack LGBTI+ individuals in their close circle, are uninformed about LGBTI+ individuals and their rights, and believe that sexual orientation is a choice and being LGBTI+ is a condition requiring treatment exhibit higher levels of homophobia. Seventy-one point one percent (71.1%) of the students think that the level of knowledge of healthcare professionals about LGBTI+ individuals is insufficient, while 70.1% think that lessons for LGBTI+ individuals are necessary. Additionally, 35.6% of the students believe that being an LGBTI+ individual will affect the healthcare they receive, and 70.1% think that LGBTI+ individuals cannot access comprehensive health services. Conclusion: Only 4.3% of the students think that healthcare professionals' knowledge about LGBTI+ individuals is sufficient, and 70.1% think that lessons for LGBTI+ individuals are necessary. The level of homophobia assessed by the Hudson and Ricketts Homophobia Scale was found to be lower than the results of similar studies across the country. It may be beneficial to integrate awareness-raising trainings in clinical branches into the faculty of Medical school education curriculum. © 2024 by Türkiye Klinikleri.