1,741,410 research outputs found
Evaluation of phenotype - genotype association in familial mediterranean fever (FMF) patients followed By Gazi University Hospital Pediatric Nephrology and Rheumatology department
No full textAmaç: Ailevi Akdeniz Ateşi (FMF) tekrarlayan ataklar ile seyreden, ataklar sırasında ateş, peritonit, plörit, tek yada çoklu eklem tutulumunun olduğu artralji ve artrit ve/veya gelip geçici özellikte deri döküntüleri ile seyreden otozomal resesif geçişli otoinflamatuar bir hastalıktır.Çalışmamızda FMF tanılı hasta grubumuzda MEFV gen mutasyonu dağılımının belirlenmesi ve MEFV gen mutasyon fenotipe etkisinin gösterilmesi amaçlandı.
Gereç ve Yöntem: Gazi Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı Nefroloji polikliniğinde 2006 - 2016 yılları arasında Livneh ve arkadaşlarının modifiye ettiği Tel Hashomer kriterlerine göre FMF tanısı koyulan 782 hasta çalışmaya dahil edildi. Hasta dosyaları retrospektif olarak taranarak demografik veriler, MEFV gen mutasyon analizleri kayıt edildi. Tüm Hastalara Pras ağırlık skorlaması yapıldı.
Bulgular: Tüm FMF olgularının %53.1 ünü erkek (n=415), %46.9 unu kız (n=367) hastalar oluşturmaktaydı. Hastaların başvuru sırasındaki yaşlarının ortalaması 8,26 yıl saptandı. Şikayetlerin başlama yaşı 6,36 yıl olarak saptandı. Türkiye de çalışmalarda da gösterildiği gibi en sık mutasyon M694V mutasyonudur. Bu mutasyon M680I, E148Q ve V726A mutasyonları izlemektedir. Bu mutasyonlar tüm hastaların %80 inden fazlasını oluşturmaktadır. M694V taşıyan hastalarda hastlığın başlma yaşı ve Pras ağırlık skorunu belirgin olarak yüksek olup daha yüksek dozda kolşisin dozuna hastalık aktivitesini kontrol etmek için ihtiyaç vardı.
Sonuç: Her nekadar genotipik benzer olan hastaların klinik bulguları farklılık göstersede M694V mutasyonuna sahip hastalar belirgin olarak daha ağır ataklar geçirmektedir. Bu hastaların yakın takibi ve izlem protokollerinin diğer mutasyonlara göre daha farklı olması faydalı olabilir.Introduction: Familial Mediterranean fever (FMF; OMIM no.608107) is an autosomal recessive inherited multisystemic disorder characterized by recurrent episodes of fever accompanied by sterile peritonitis, arthritis, pleuritis, and a typical inflammatory skin rash called erysipelas-like erythema. The development of renal amyloidosis type AA is the most devastating manifestation of the disease and ıt could occur without presence of typical attacts.
Materials and Methods: This study was performed respectively in the Gazi University Pediatric Nephrology Department. A clinical diagnosis of FMF was made according to Tel Hashomer criteria. Of the 261 unrelated patients investigated, 191 patients had 1 or 2 mutations by FMF strip assay. In 70 of patients without identified mutation by strip assay had polymorphism by DNA sequencing assay. Pras scoring was made. The Aim was to demonstrate the phenotype and genotype relationship of FMF.
Results: Of the 261 patients, 136 (52%) were girls, 125 (48%) were boys, and the age ranged from 104,8±49 months. There were common seen mutations in 191 patients, 70 patients had MEFV polymorphisms. The most frequent mutation was the M694V/M694V. Fever, abdominal pain and artritis were seen statistically significant in patient carrying M694V mutation and they had high Pras scores and colchicine dosage in order to control disaese activity. R202Q mutation was the common expressed polymorphism in 70 patients without any identifed mutation by strip assay. We demonstrate coexpression of R314R single nucleotid polymorphism present on 3th exon and D102D, G138G, A165A subhaplotypes and R314R single nucleotide polymorphism and E474E, Q476Q, D510D subhaplotypes.
Conclusion: The DNA sequence analysis will become common with the progressions made in the field of molecular genetic. We will understand better the phenotype and genotype relationship
Genetic improvement of private woodland ecosystems in the Pacific Northwest
No full textBulletin no. 774 Moscow, Idaho :University of Idaho, College of Agriculture, Cooperative Extension System, 1995-04-01. Author(s): Mahoney, Ronald L.; Fins, Laure
Commento all'art. 774 c.p.c.
No full textIl breve contributo verte sul rinvio delle operazioni di formazione dell'inventario ai sensi dell'art. 774 c.p.c
Going Beyond Counting First Authors in Author Co-citation Analysis
No full textThe 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
774. Kussō
No full textIwao Seiichi, Iyanaga Teizō, Ishii Susumu, Yoshida Shōichirō, Fujimura Jun'ichirō, Fujimura Michio, Yoshikawa Itsuji, Akiyama Terukazu, Iyanaga Shōkichi, Matsubara Hideichi. 774. Kussō. In: Dictionnaire historique du Japon, volume 13, 1987. Lettre K (3) pp. 144-145
Inscriptions 765 à 774
No full textInscriptions 765 à 774. In: Revue épigraphique du Midi de la France, tome 2, N°53, 1889. pp. 419-427
Santa Fe (ATSF) 774
No full textA photograph print showing Santa Fe (ATSF) 774, 2-8-0, (Richmond) class 769, ex: S Fe Pac 271, Dallas, TX. "Retired 1940 & sold to Mexico Northwest Railway.
- …
