Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal transplantation. A large number of such patients eventually develop cholestatic liver disease. Bi-allelic MYO5B mutations are also identified in a subset of patients with predominant early-onset cholestatic liver disease. We present here the compilation of 114 patients with disease-causing MYO5B genotypes, including 44 novel patients as well as 35 novel MYO5B mutations, and an analysis of MYO5B mutations with regard to functional consequences. Our data support the concept that (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED). Genotype-phenotype data are deposited in the existing open MYO5B database in order to improve disease diagnosis, prognosis, and genetic counseling.This research was funded by Jubiläumsfonds der Österreichischen Nationalbank, grant no.16678 (to A.R.J.), grant no. 18019 (to G.-F.V.) and Tiroler Wissenschaftsfonds, grant No. 0404/2386 (toG.-F.V.).info:eu-repo/semantics/publishedVersio

Bilgi ve Internet Firmalarında Fiyat Dağılımı

Internet firms charge a wide range of prices for nearly homogeneous products and price dispersion vary significantly across markets. This study is an attempt to explain different levels of price dispersion across online product markets. We found price dispersion vary systematically with the number of firms offering the product and the markets at which consumers are more informed have smaller price dispersion. Moreover prices charged by individual retailers decline as the number of retailers selling the same product rise.İnternetteki alısveris firmaları benzer veya aynı ürünler için birbirinden oldukça farklı fiyatlarda satıs yapabilmektedir. Fiyat farklılıkları sektörlere gore önemli oranda farklılık göstermektedir. Bu çalısma sektörlere gore önemli ölçüde değisiklik gösteren fiyat farklılıklarını açıklamayı amaçlamaktadır. Çalısma sonunda fiyat farklılıklarının aynı ürünü satan firma sayısı azaldıkça arttığı ve tüketici bilinç ve bilgi seviyesi yükseldikçe azaldığı sonucuna ulasıldı. Ayrıca aynı ürünü satan firma sayısı arttıkça ürünün ortalama fiyatının azaldığı bulundu.Publisher's Versio

1 Corresponding author INFORMATION AND THE PRICE DISPERSION ON THE NET

Abstract: Internet firms charge a wide range of prices for nearly homogeneous products and price dispersion vary significantly across markets. This study is an attempt to explain different levels of price dispersion across online product markets. We found price dispersion vary systematically with the number of firms offering the product and the markets at which consumers are more informed have smaller price dispersion. Moreover prices charged by individual retailers decline as the number of retailers selling the same product rise

Koroner aterosklerozu yükü ile asimetrik dimetilarjinin, karotis intima medya kalınlığı ve endotel fonksiyonu arasındaki ilişki.

İstanbul Bilim Üniversitesi, Tıp Fakültesi.Objectives: Detection of extent and severity of atherosclerosis using easy, non-invasive methods is of great importance. Atherosclerotic burden may be evaluated with the Gensini scoring system (GSS). Carotis intima media thickness (CIMT), plasma asymmetric dimethyl arginine (ADMA) level, and endothelial dysfunction are well known surrogate markers of atherosclerosis. The aim of this study was to evaluate the relationship between atherosclerotic burden determined by the GSS, and ADMA, CIMT and endothelial function. Study Design: Consecutive patients who had undergone coronary angiography were evaluated. 50 patients with acute coronary syndrome (ACS), 50 patients with stable coronary artery disease (SCA), and 50 patients with normal coronary arteries (NCA) were included. All subjects' GSS, ADMA, CIMT and endothelial functions were evaluated and compared.Amaç: Aterosklerozun şiddetinin ve yaygınlığının basit ve invaziv olmayan yöntemlerle tespiti oldukça önemlidir. Ateroskleroz yükü Gensini skor sistemi (GSS) kullanılarak belirlenebilmektedir. Karotis intima medya kalınlığı (KİMK), plazma asimetrik dimetilarjinin (ADMA) seviyesi ve endotel fonksiyon bozukluğu aterosklerozun iyi bilinen belirteçleridir. Bu çalışmanın amacı GSS ile tespit edilen ateroskleroz yükü ile ADMA, KİMK ve endotel fonksiyon bozukluğu arasındaki ilişkiyi incelemektir. Çalışma planı: Koroner anjiyografi yapılmış olan ardışık hastalar değerlendirildi. Akut koroner sendromlu (AKS) 50 hasta, stabil koroner arter (SKA) hastalığı olan 50 ve koroner arterleri normal (NKA) 50 olgu çalışmaya alındı. Çalışmaya alınan tüm olguların GSS, ADMA, KİMK ve endotel fonksiyonları ölçüldü ve karşılaştırıldı

Safen ven greft lezyonlarının paklitaksel ve sirolimus salınımlı stentler ile tedavisi: Kısa ve uzun dönem klinik sonuçların karşılaştırılması

İstanbul Bilim Üniversitesi, Tıp Fakültesi.Objective: The purpose of this study was to compare treatment of saphenous vein graft (SVG) lesions with paclitaxel-eluting (PES) and sirolimus-eluting stents (SES) in daily practice with regard to short- and long-term clinical outcomes. Methods: Between August 2002 and September 2006, a total of 71 patients with SVG lesions who were implanted PES or SES with percutaneous coronary intervention in our center were evaluated retrospectively. Forty-six patients with PES (PES group) were compared to twenty-five patients treated with SES (SES group) in terms of in-hospital, 30-day, six-months and 1-year clinical outcomes. Statistical analyses were performed using Chi-Square statistics or Fisher’s exact and independent sample t test. Survival analysis was done using Kaplan-Meier method and log-rank test.Amaç: Bu çalışmada amacımız günlük pratikte paklitaksel salınımlı (PSS) ve sirolimus salınımlı (SSS) stentler ile tedavi edilen safen ven greft (SVG) lezyonlu hastaları kısa ve uzun dönem klinik sonuçlar açısından karşılaştırmaktır. Yöntemler: Merkezimizde Ağustos 2002 ile Eylül 2006 tarihleri arasında SVG lezyonu için perkütan koroner girişim ile PSS veya SSS uygulanmış olan toplam 71 hasta retrospektif olarak değerlendirildi. Hastane içi, 30. gün, 6. ay ve 1. yıl klinik sonuçları açısından PSS uygulanan 46 hasta (PSS grubu), SSS uygulanan 25 hasta (SSS grubu) ile karşılaştırıldı. İstatistiksel değerlendirmede Ki-Kare, “Fisher exact” ve bağımsız örneklem t testleri kullanıldı. Sağkalım analizi Kaplan-Meier yöntemi ve log-rank testi ile yapıldı

Traumatic intracranial carotid tree aneurysms

OBJECTIVE: This study was designed to elucidate the requirements for angiographic evaluation in blunt head injuries, the timing of angiography, and the selection of appropriate therapeutic approaches

Treatment of saphetious vein graft lesions with paclilaxel- and sirolimus-eluting stews: comparison of short- and long-term clinical outcomes

WOS: 000262178300007PubMed ID: 19103539Objective: The purpose of this study was to compare treatment of saphenous vein graft (SVG) lesions with paclitaxel-eluting (PES) and sirolimus-eluting stents (SES) in daily practice with regard to short- and long-term clinical outcomes. Methods: Between August 2002 and September 2006, a total of 71 patients with SVG lesions who were implanted PES or SES with percutaneous coronary intervention in our center were evaluated retrospectively. Forty-six patients with PES (PES group) were compared to twenty-five patients treated with SES (SES group) in terms of in-hospital, 30-day, six-months and 1-year clinical outcomes. Statistical analyses were performed using Chi-Square statistics or Fisher's exact and independent sample t test. Survival analysis was done using Kaplan-Meier method and log-rank test. Results: Baseline clinical characteristics were similar in both groups except for a tendency toward a lower age in the SES group. No statistically significant difference was found between two groups by means of lesion and procedural characteristics. All clinical outcomes at 30-day, 6-month and 1-year after the interventions were similar in both groups. Early stent thrombosis was detected in one patient (2.2%) of PES group (p=0.65). Late stent thrombosis was not observed in both groups. The rate of major adverse cardiac events at 1-year was 8.7% in the PES group and 16% in the SES group (p=0.44). Conclusion: Short- and long-term clinical outcomes of PIES and SES in the treatment of SVG lesions are similar. The results of our study showed that both drug-eluting stents are effective and safe in real-world patient with diseased SVGs. (Anadolu Kardiyol Derg 2008; 8: 437-6