Yıl: 2019 Cilt: 52 Sayı: 3 Sayfa Aralığı: 68 - 74 Metin Dili: İngilizce DOI: 10.5152/turkjnephrol.2019.3157 İndeks Tarihi: 21-07-2020

Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey

Öz:
Objective: Familial Mediterranean fever (FMF) is a hereditary disease. It usually affects countries in the Mediterraneanregion and is common in Turks. This retrospective study was conducted to evaluate phenotype-genotype characteristics ofchildren with FMF in Malatya district and surrounding areas in eastern Turkey.Materials and methods: A total of 427 patients who had been diagnosed with clinical FMF between 2006 and 2015 wereincluded in the study.Results: Of the patients, 207 (48.5%) were female, and 220 (51.5%) were male. The mean age of diagnosis was 7.7±3.7years, and the age of onset of complaints was 5.7±3.5 years. The delay of diagnosis was 1.9±1.8 years. The most commoncomplaint was abdominal pain (95.1%). The most commonly detected mutant allele was M694V (26.9%) mutation. Wedetected heterozygous mutations in 203 (52%) patients, homozygous mutations in 71 (18%) patients, compound heterozygous mutations in 81 (22%) patients, and no mutation in 8% of the patients. The most common homozygous mutation wasM694V (57.7%), the most common heterozygous mutation was E148Q (38.4%), and the most common compound heterozygous mutation was M694V/M680I (17.1%).Conclusion: In our study, we found that the frequency of mutations was similar to that of the whole population of Turkey,and the severity of the disease was lower.
Anahtar Kelime:

A Comparison of Biosurfactant Production Between Clinical and Environmental Exophiala Isolates

Öz:
Black yeast in the genus Exophiala are able to grow in hydrocarbon-contaminated environments and are pathogenic in immunosuppressed hosts. The biosurfactant produced by Exophiala species may be associated with strain pathogenicity by changing the hydrophobicity. The aim of this study was to prove the hypothesis that biosurfactant production in Exophilia strains isolated from clinical samples is lower than the strains isolates from toxic (dishwasher and railway sleepers) environments. A total of 122 Exophiala isolates 108 environmental (isolated from 82 dishwashers and 36 railway sleepers) and 14 clinical isolates confirmed by molecular tests were included in the study. Biosurfactant activity was tested by the drop collapse method, in which the surface of a microtiter plate well was evaluated for the presence of a biosurfactant, and by the oil spreading technique on crude oil. An open source analyses program, ImageJ®, was used for crude oil spreading technique data. A clear surface zone that differs more than two standard deviations from the mean size was accepted as a positive result. Among the 122 Exophiala species, 11 (9.0%) and 10 (8.2%) strains showed biosurfactant activity by the drop collapse test and oil spreading method, respectively. An acceptable relation was found between the drop collapse test and oil spreading method (Cohen κ coefficient= 0.30). Despite the presence of isolates showing biosurfactant activity, no statistically significant difference was detected between Exophiala strains (p= 0.72). The biosurfactant levels of environmental isolates were higher than the isolates obtained from the patients (p= 0.03). The highest biosurfactant level was observed in one Exophiala phaeomuriformis strain isolated from a dishwasher. There was no difference between the biosurfactant levels of the dishwasher and railway sleeper isolates (p= 0.66). Biosurfactant production may be a more important determinant of virulence in Exophiala species than expected. In this study, biosurfactant activity was higher in environmental isolates compared to the clinical isolates. Consensus of multiple biosurfactant screening protocols may clarify why environmental Exophiala species are less virulent. Further studies should evaluate biosurfactant activity in additional clinical Exophiala isolates. The biosurfactant activity of more Exophiala isolates obtained from patients should be investigated with further planned studies.
Anahtar Kelime:

Klinik ve Çevresel Exophiala İzolatlarında Biyosurfaktan Üretiminin Karşılaştırılması

Öz:
Exophiala cinsi esmer mantarlar hidrokarbon ile kontamine ortamlarda kolonize olabilmekte vebağışıklık sistemi baskılanmış insanlarda hastalık oluşturabilmektedirler. Exophiala türlerinde biyosurfaktanüretimi, değişen hücre hidrofobisitesinin, izolatların patojen hale dönüşmesiyle ilişkili olabilmektedir.Bu çalışma, klinik örneklerden elde edilen Exophiala izolatlarında biyosurfaktan üretiminin, toksikortamlardan (bulaşık makinesi ve demiryolu traversleri) elde edilen çevresel izolatlara göre daha düşükolduğu hipotezini kanıtlamak amacıyla yapılmıştır. Çalışmada, moleküler yöntemlerle tanımlanmış, 108’içevresel (82’si bulaşık makinesi, 36’sı demiryolu traversi) ve 14’ü klinik örneklerden elde edilen toplam122 Exophiala izolatı incelenmiştir. Biyosurfaktan aktivitesi, biyosurfaktan varlığının göstergesi olarakmikrotitrasyon plağının yüzeyinde yağa damlatma testi ve ham petrol üzerine yağ yayılımı yöntemiylearaştırılmıştır. Ham petrol kullanılarak yapılan yağ yayılım testi verileri, bilgisayarda açık kaynak kodluImageJ programıyla değerlendirilmiştir. Test edilen izolatların tamamında +2 standart sapmadan dahayüksek ölçülen temiz yüzey alanı pozitif sonuç olarak kabul edilmiştir. Araştırma kapsamında incelenen122 Exophiala izolatının 11 (%9.0)’i yağa damlatma yöntemiyle, 10 (%8.2)’u yağ yayılım testiylebiyosurfaktan aktivitesi göstermiştir. Yağa damlatma yöntemi ile yağ yayılım testleri arasında kabul edilebilirseviyede uyum saptanmıştır (Cohen κ değeri= 0.30). Biyosurfaktan aktivitesi gösteren izolatların varlığınarağmen, Exophiala türleri arasında istatistiksel olarak fark saptanmamıştır (p= 0.72). Çevresel izolatlarınbiyosurfaktan düzeyleri hastalardan elde edilen izolatlardan daha yüksek bulunmuştur (p= 0.03). En yüksek biyosurfaktan aktivite düzeyi, bulaşık makinesinden izole edilen bir Exophiala phaeomuriformisizolatında görülmüştür. Bulaşık makinelerinden elde edilen izolatlar ile demiryolları traverslerinden eldeedilen izolatlar arasında biyosurfaktan üretme düzeyleri bakımından fark saptanmamıştır (p= 0.66).Biyosurfaktan üretimi, Exophiala türlerinde virülansın beklenenden daha önemli bir göstergesi olabilir.Sunulan araştırmada, çevresel izolatlardaki biyosurfaktan aktivitesi, klinik örneklerden elde edilenizolatlardan daha yüksek bulunmuştur. Biyosurfaktan tarama protokolleri üzerinde anlaşmaya varılması,çevresel Exophiala izolatlarının neden daha az virülansa sahip oldukları hakkında yardımcı olabilir.Planlanacak ileri çalışmalarla, hastalardan elde edilen daha fazla sayıda Exophiala izolatının biyosurfaktanaktivitesi araştırılmalıdır.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
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APA KALEM H, ERGİN Ç, KAYHAN TETİK B, Aksoy L, Tabel Y, KAPLAN E, Selçuk E, Ilkit M, Elmas A (2019). Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey. , 68 - 74. 10.5152/turkjnephrol.2019.3157
Chicago KALEM Hülya,ERGİN Çağrı,KAYHAN TETİK BURCU,Aksoy Levent,Tabel Yılmaz,KAPLAN Engin,Selçuk Engin Burak,Ilkit Macit,Elmas Ahmet Taner Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey. (2019): 68 - 74. 10.5152/turkjnephrol.2019.3157
MLA KALEM Hülya,ERGİN Çağrı,KAYHAN TETİK BURCU,Aksoy Levent,Tabel Yılmaz,KAPLAN Engin,Selçuk Engin Burak,Ilkit Macit,Elmas Ahmet Taner Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey. , 2019, ss.68 - 74. 10.5152/turkjnephrol.2019.3157
AMA KALEM H,ERGİN Ç,KAYHAN TETİK B,Aksoy L,Tabel Y,KAPLAN E,Selçuk E,Ilkit M,Elmas A Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey. . 2019; 68 - 74. 10.5152/turkjnephrol.2019.3157
Vancouver KALEM H,ERGİN Ç,KAYHAN TETİK B,Aksoy L,Tabel Y,KAPLAN E,Selçuk E,Ilkit M,Elmas A Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey. . 2019; 68 - 74. 10.5152/turkjnephrol.2019.3157
IEEE KALEM H,ERGİN Ç,KAYHAN TETİK B,Aksoy L,Tabel Y,KAPLAN E,Selçuk E,Ilkit M,Elmas A "Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey." , ss.68 - 74, 2019. 10.5152/turkjnephrol.2019.3157
ISNAD KALEM, Hülya vd. "Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey". (2019), 68-74. https://doi.org/10.5152/turkjnephrol.2019.3157
APA KALEM H, ERGİN Ç, KAYHAN TETİK B, Aksoy L, Tabel Y, KAPLAN E, Selçuk E, Ilkit M, Elmas A (2019). Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey. Turkish journal of nephrology (Online), 52(3), 68 - 74. 10.5152/turkjnephrol.2019.3157
Chicago KALEM Hülya,ERGİN Çağrı,KAYHAN TETİK BURCU,Aksoy Levent,Tabel Yılmaz,KAPLAN Engin,Selçuk Engin Burak,Ilkit Macit,Elmas Ahmet Taner Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey. Turkish journal of nephrology (Online) 52, no.3 (2019): 68 - 74. 10.5152/turkjnephrol.2019.3157
MLA KALEM Hülya,ERGİN Çağrı,KAYHAN TETİK BURCU,Aksoy Levent,Tabel Yılmaz,KAPLAN Engin,Selçuk Engin Burak,Ilkit Macit,Elmas Ahmet Taner Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey. Turkish journal of nephrology (Online), vol.52, no.3, 2019, ss.68 - 74. 10.5152/turkjnephrol.2019.3157
AMA KALEM H,ERGİN Ç,KAYHAN TETİK B,Aksoy L,Tabel Y,KAPLAN E,Selçuk E,Ilkit M,Elmas A Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey. Turkish journal of nephrology (Online). 2019; 52(3): 68 - 74. 10.5152/turkjnephrol.2019.3157
Vancouver KALEM H,ERGİN Ç,KAYHAN TETİK B,Aksoy L,Tabel Y,KAPLAN E,Selçuk E,Ilkit M,Elmas A Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey. Turkish journal of nephrology (Online). 2019; 52(3): 68 - 74. 10.5152/turkjnephrol.2019.3157
IEEE KALEM H,ERGİN Ç,KAYHAN TETİK B,Aksoy L,Tabel Y,KAPLAN E,Selçuk E,Ilkit M,Elmas A "Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey." Turkish journal of nephrology (Online), 52, ss.68 - 74, 2019. 10.5152/turkjnephrol.2019.3157
ISNAD KALEM, Hülya vd. "Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey". Turkish journal of nephrology (Online) 52/3 (2019), 68-74. https://doi.org/10.5152/turkjnephrol.2019.3157