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RISS 인기검색어
- 검색키워드
- 저자 : Ali Mert Kocer (검색결과 2 건)
- 무료
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- 유료
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Evaluation of Genetic Analysis with Autosomal Recessive Bestrophinopathy
Ali Mert Kocer,Mehmet Yasin Teke,Furkan Emre Sogut 한국망막학회 2019 Journal of Retina Vol.4 No.2
Purpose: We aimed to report a patient with autosomal recessive bestrophinopathy (ARB) who have novel compound heterozygous mutations in BEST1. Case summary: A 35-year old male patient who had no history of known trauma and disease was admitted to our hospital with bilateral visual disturbance since his childhood. Dilated fundus examination revealed widespread yellow-white subretinal accumulation and white scar formation on both posterior poles. Hyperfluorescent foci were observed along the vessel arcades in fundus autofluorescence imaging. Optical coherence tomography showed serous subretinal fluid under the bilateral macula. Arden rate was found to be 1.32 for right eye and 1.28 for left eye in the electrooculography examination. Bestrophinopathy was considered in the patient and a genetic examination test was performed for BEST1 gene. The whole gene sequence analysis test (Miseq-Illumina) performed on the BEST1 gene of the patient resulted in c.604C>T (p.Arg202Trp) (pR202W) /c.1013G>A (p.Trp338 *) (p.W338*) compound heterozygous mutation. Conclusions: ARB is a rare disease and usually associated with consanguineous marriage, the disease may also occur with different mutations of both spouses. For this reason, it is important that ophthalmologists consider the possibility of best retinopathy even in the absence of a consanguineous history.
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Adas, Yasemin Guzle,Yazici, Omer,Kekilli, Esra,Akkas, Ebru Atasever,Karakaya, Ebru,Ucer, Ali Riza,Ertas, Gulcin,Calikoglu, Tamer,Elgin, Yesim,Inan, Gonca Altinisik,Kocer, Ali Mert,Guney, Yildiz Asian Pacific Journal of Cancer Prevention 2015 Asian Pacific journal of cancer prevention Vol.16 No.17
Background: The aim of this study was to evaluate the effect of whole brain radiotherapy (WBRT) combined with streotactic radiosurgery versus stereotactic radiosurgery (SRS) alone for patients with brain metastases. Materials and Methods: This was a retrospective study that evaluated the results of 46 patients treated for brain metastases at Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Radiation Oncology Department, between January 2012 and January 2015. Twenty-four patients were treated with WBRT+SRS while 22 patients were treated with only SRS. Results: Time to local recurrence was 9.7 months in the WBRT+SRS arm and 8.3 months in SRS arm, the difference not being statistically significant (p=0.7). Local recurrence rate was higher in the SRS alone arm but again without significance (p=0,06). Conclusions: In selected patient group with limited number (one to four) of brain metastases SRS alone can be considered as a treatment option and WBRT may be omitted in the initial treatment.
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