Türkiye'de Eksfoliasyon Sendromu Glokomu ve Primer Açık Açılı Glokomda Loxl1 Geni Tek Nükleotid Polimorfizmlerinin Analizi

The purpose of this study was to evaluate the association between lysyl oxidase like 1 (LOXL1) single nucleotide polymorphisms (SNPs) in exfoliation syndrome (XFS), exfoliation glaucoma (XFG) and primary open angle glaucoma (POAG) in Turkish population. One hundred XFS, 100 XFG, 100 POAG patients and 100 control subjects evaluated at Hacettepe University School of Medicine Ophthalmology Department were included in the study. LOXL1 gene SNPs rs1048661 (R141L) and rs3825942 (G153D), were genotyped and their frequencies were compared between groups. The G allele of both SNPs were more frequently observed in XFS/XFG when compared with control subjects indicating that the T allele for rs1048661 (p=2.54x10-5, OR=0.334, %95 CI: 0.198-0.564 for XFS and p=8.56x10-5, OR=0.366, %95 CI: 0.219-0.611 for XFG) and the A allele for rs3825942 (p=3.69x10-9, OR=0.025, %95 CI: 0.003-0.188) were found to be protective alleles for XFS/XFG. The TT and GT genotypes of rs1048661 were underrepresented in both patients with XFS (p=2.64x10-4) and XFG group (p=3.20x10-4) compared to control subjects. GG genotype of rs3825942 was detected in all subjects of both XFS and XFG groups (p=3.69x10-4). By using logistic regression analysis, the effect of rs1048661 remained significant (p=8.45x10-8) after controlling for the effect of rs3825942. Female gender was found to be protective against the disease (p=0.001). There were no statistically significant differences between subjects with XFS and XFG for both SNP frequencies. No statistically significant differences in allele and genotype frequencies of rs1048661 and rs3825942 were found between patients with POAG and control subjects. In conclusion, LOXL1 polymorphisms were found to be associated in XFS and XFG but not POAG in Turkish population.Bu çalışmadaki amaç Türk toplumunda, eksfoliasyon sendromu (ES), eksfoliasyon glokomu (EG) ve primer açık açılı glokom (PAAG) olgularında lizil oksidaz benzeri 1 (LOXL1) polimorfizmlerini değerlendirmektir. Bu amaçla, Hacettepe Üniversitesi Tıp Fakültesi Göz Hastalıkları Anabilim Dalı polikliniğine başvuran 100 ES, 100 EG, 100 PAAG ve 100 kontrol olgusunda LOXL1 geni rs1048661 (R141L) ve rs3825942 (G153D) tek nükleotid polimorfizmleri (SNP) genotiplendirildi ve incelenen SNP'lerin alel ve genotip dağılımları, gruplar arasında karşılaştırıldı. Her iki SNP için de G alelinin, ES ve EG hastalarında, kontrol grubu ile karşılaştırıldığında daha sık bulunduğu; rs1048661'in T alelinin (ES için, p=2.54x10-5, OR=0.334, %95 GA: 0.198-0.564 ve EG için, p=8.56x10-5, OR=0.366, %95 GA: 0.219-0.611) ve rs3825942 için A alelinin (ES ve EG için p=3.69x10-9, OR=0.025, %95 GA: 0.003-0.188) koruyucu aleller olduğu düşünüldü. Genotip dağılımlarına bakıldığında, rs1048661'in TT ve GT genotipi, ES (p=2.64x10-4) ve EG (p=3.20x10-4) hastalarında, kontrol grubuna göre anlamlı olarak daha az bulundu. Çalışmaya dahil edilen tüm ES ve EG olgularında, rs3825942'de GG genotipi tespit edildi (p=2.21x10-4). Lojistik regresyon analizi ile cinsiyet ve iki SNP değerlendirildiğinde, rs1048661'in etkisi anlamlı kalırken (p=8.45x10-7), rs3825942'nin etkisi anlamlı bulunmadı (p=0.997). Kadın cinsiyet, ES ve EG için koruyucu olarak değerlendirildi (p=0.001). ES ve EG grupları arasında alel ve genotip dağılımı açısından istatistiksel olarak anlamlı fark görülmedi. PAAG ve kontrol grubu karşılaştırıldığında, iki SNP'in alel ve genotip dağılımı açısından istatiksel olarak anlamlı fark saptanmadı. Sonuç olarak, LOXL1 polimorfizmleri Türkiye'de beyaz ırk ile uyumlu olarak ES ve EG ile anlamlı olarak ilişkili bulunmuş, ancak PAAG ile ilişki gösterilememiştir

Genetyka molekularna zespołu pseudoeksfoliacji

Exfoliation syndrome is an age-related disorder of the extracellular matrix, characterized by progressive accumulation of abnormal fibrillar material in several ocular and extraocular tissues. Although the exact etiopathogenesis is still unknown, several genetic and environmental factors appear to be involved in disease pathogenesis. Recently, single nucleotide polymorphisms in lysyl oxidase-like 1 have been found to be strongly associated with exfoliation syndrome. Dysregulation of lysyl oxidase-like 1 specifity and activity, an enzyme with a role in tropoelastin cross-linking and elastin homeostasis is thought to be involved in the development of exfoliation syndrome. This review aims to examine the recent genetic findings in the disease process.Zespół pseudoeksfoliacji to związane z wiekiem zaburzenie macierzy zewnątrzkomórkowej, charakteryzujące się postępującym odkładaniem się nieprawidłowego materiału fibrylarnego w różnych tkankach oka i poza nimi. Dokładna etiopatogeneza choroby pozostaje nieznana, jednak wydaje się, że istnieje kilka czynników genetycznych i środowiskowych w nią zaangażowanych. Niedawno wykazano, że polimorfizmy pojedynczego nukleotydu w obrębie oksydazy lizynowej 1 są silnie powiązane z zespołem pseudoeksfoliacji. Dysregulacja swoistości i aktywności oksydazy lizynowej 1, czyli enzymu odgrywającego rolę w sieciowaniu tropoelastyny i homeostazie elastyny, jest uważana za jeden z czynników rozwoju zespołu pseudoeksfoliacji. Celem niniejszej pracy jest przeanalizowanie najnowszych doniesień dotyczących genetyki wspomnianego procesu chorobowego

Cerrahi ve Ameliyathane Hemşirelerinin Laparoskopik Cerrahiye Bakış Açıları

Amaç: Cerrahi servislerinde ve ameliyathanede çalışan hemşirelerin laparoskopik cerrahiye bakış açılarını değerlendirmeyi amaçladık.Gereç ve Yöntem: Bu çalışma kesitsel bir anket çalışmasıdır. Ankara Numune Eğitim ve Araştırma Hastanesi Genel Cerrahi ve Aile Hekimliği Kliniklerince, servis ve ameliyathane hemşirelerinin laparoskopik cerrahi hakkındaki görüşlerini öğrenmeye yönelik 25 soruluk bir anket hazırlandı. Çalışmaya 03.01.2018 tarih ve E-17-1701 sayılı etik kurul onayı alındıktan sonra başlandı ve anketler eğitim almış bir anketör tarafından hemşirelere yüz yüze görüşerek yapıldı. Bulgular: Çalışmaya katılanların 58’i kadın %89,2 , 7’si erkekti %10,8 . 1 katılımcı bu bölümü işaretlememişti. Yaş ortancası 36 Min. 23, Max. 55, Çeyrekler Arası Genişlik ÇAG =10 ’ydı. Çalışma süresi ortancası 14 Min. 3, Max. 33, ÇAG=14 yıldı. Laparoskopide geçirilen süre ortancası 5 Min. 1, Max. 20, ÇAG=6 yıldı. 10 yıldan uzun süre çalışmış olan hemşireler anlamlı derecede daha fazla oranda laparoskopik cerrahinin hastaların takip ve tedavisini zorlaştırmadığını söyledi p=0,002 . Oysa genel cerrahi hemşireleri diğer cerrahi dallara göre de anlamlı olarak daha fazla oranda zorlaştırmadığını ifade etti p=0,016 . Laparoskopik cerrahide ameliyat ekibinin yaralanma ve enfeksiyon riskinin daha az olduğunu düşünüyorum sorusuna ameliyathanede çalışanlar çoğunlukla olumlu cevap verdi p=0,034 . Laparoskopik cerrahide ameliyat sırasında komplikasyonların daha sık yaşandığını düşünüyorum sorusuna laparoskopi eğitimi almayan hemşireler çoğunlukla katıldı. Fakat eğitim alan hemşireler katılmadığını ifade etti p=0,047 .Sonuç: Laparoskopik cerrahide eğitim, çalışılan yer, bu konudaki deneyim ve hizmet süresi hemşirelerin bakış açılarını önemli ölçüde etkilemektedi

Association of Loxl1 Gene Polymorphisms with Exfoliation Syndrome/Glaucoma and Primary Open Angle Glaucoma in A Turkish Population

Purpose To investigate the association of lysyl oxidase like 1 (LOXL1) variants with exfoliation syndrome (XFS), exfoliation glaucoma (XFG), and primary open angle glaucoma (POAG) in a Turkish population. Methods Two LOXL1 single nucleotide polymorphisms (SNPs), rs1048661 (R141L) and rs3825942 (G153D), were analyzed in 300 Turkish patients (100 patients with XFS, 100 patients with XFG, 100 patients with POAG) and 100 control subjects. Results The T allele of rs1048661 was underrepresented in patients with XFS (odds ratio [OR]=0.334, 95% confidence interval [CI]: 0.198–0.564, p=2.54×10−5) and XFG (OR=0.366, 95% CI: 0.219–0.611, p=8.56×10−5) compared to the control subjects. None of the patients with XFS or XFG had the A allele of rs3825942, whereas 16% of the control subjects had that variant (OR=0.025, 95% CI: 0.003–0.188, p=3.69×10−9). No association was observed between the SNPs studied and POAG. By using logistic regression analysis, the effect of rs1048661 remained significant (p=8.45×10−8) after controlling for the effect of rs3825942, whereas rs3825942 was not significant with conditioning on rs1048661. Female gender was protective against the disease controlling with the effect of the two SNPs (OR=0.527, 95% CI: 0.358–0.776, p=0.001). Conclusions The findings of the current study indicate that in a logistic regression analysis model the T allele of rs1048661 is the most important risk-modifying factor for the development of XFS and XFG. Our results also confirm in a Turkish population the findings of previous reports describing the association between LOXL1 polymorphisms and XFS/XFG but not with POAG. The allele and genotype distribution in this cohort appear to be similar to those of Caucasians.PubMedWo

Detection of Kallikrein-Related Peptidase 4 with a Label-free Electrochemical Impedance Biosensor Based on a Zinc(II) Phthalocyanine Tetracarboxylic Acid-Functionalized Disposable Indium Tin Oxide Electrode

A new impedimetric biosensing system based on kallikrein-related peptidase 4 (KLK 4) antigen-specific antibodies and a zinc(II) phthalocyanine tetracarboxylic acid (Zn-PcTCa) matrix material was developed for the first time in this study. First, a Zn-PcTCa-coated indium tin oxide surface was used as an interface matrix material for the immobilization of anti-KLK 4 antibodies, and they bound to the platform via amide bonds. In the presence of KLK 4 antigens, the anti-KLK 4 antibodies specifically captured these antigens and caused changes in the electrochemical properties of the system. Randles equivalent circuit was utilized to evaluate the impedimetric signal, which was measured with the help of an electrochemical impedance spectroscopy method. After the specific interaction, the electron transfer resistance (R-ct) was remarkably increased and displayed a linear relationship with the level of the KLK 4 antigen in the range of 0.02-15 pg/mL, with a a detection limit of 6.8 fg/mL. The designed biosensor was able to detect a KLK 4 antigen with good sensitivity, excellent specificity, and high stability. In addition, because of having a low-cost and robust procedure for fabrication, it could be repeatedly used in several areas including clinical diagnosis.Namik Kemal University, NKU-BAPNamik Kemal University [NKUBAP.00.ONAP. 19.209]The authors thank the Scientific and Technological Research Council of Tekirdag. Namik Kemal University, NKU-BAP (NKUBAP.00.ONAP. 19.209) for the support of this work

Immobilization of Alpha-Amylase onto Ni2+ Attached Carbon Felt: Investigation of Kinetic Parameters from Potato Wastewater

α-amylase is an important enzyme for textile, food, paper, and the pharmaceutical industrial areas. In this study, Ni2+ attached carbon felt structures with nitrogen active site (Ni2+-N-ACF) are produced. The surface morphologies of the N-ACF and Ni2+-N-ACF are investigated by means of scanning electron microscopy (SEM) analysis. Ni2+ ions binding on the N-ACFs are determined by energy dispersive X-ray (EDX) analysis and a graphite furnace atomic absorption spectrometer (AAS). The effect of pH, ionic strength, initial α-amylase concentration, and temperature parameters is investigated for α-amylase immobilization on Ni2+-N-ACF structures. In addition, pH and temperature effect on the activities of the free and the immobilized amylase, kinetic parameters, storage, and operational stabilities are made. Lastly, starch degradation in potato waste water is tested on Ni2+-N-ACF. The obtained results show that α-amylase immobilized Ni2+-N-ACF can be used for starch degradation on an industrial scale