28 research outputs found
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment
Acyl CoA Oxidase 2 (ACOX2) encodes branched-chain acyl-CoA oxidase, a peroxisomal enzyme believed to be involved in the metabolism of branched-chain fatty acids and bile acid intermediates. Deficiency of this enzyme has not been described previously. We report an 8-y-old male with intermittently elevated transaminase levels, liver fibrosis, mild ataxia, and cognitive impairment. Exome sequencing revealed a previously unidentified homozygous premature termination mutation (p.Y69*) in ACOX2 Immunohistochemistry confirmed the absence of ACOX2 expression in the patient's liver, and biochemical analysis showed marked elevation of intermediate bile acids upstream of ACOX2. These findings define a potentially treatable inborn error of bile acid biosynthesis caused by ACOX2 deficiency
THE OPINIONS OF FACULTY MEMBERS ON APPLICATION FOR BOLOGNA PROCESS IN TURKISH HIGHER EDUCATION
Arastırmada, Ankara'daki dört kamu ve altı vakıf üniversitesinde görevli öğretim
elemanlarının üniversitelerindeki Bologna Süreci kapsamında gerçeklestirilen çalısmalara
iliskin görüsleri tespit edilmistir.
Arastırmanın hedef evrenini, Ankara genelinde kamu ve vakıf üniversitelerin
mühendislik, fen-edebiyat ve eğitim fakültelerinde 20062007 eğitim öğretim yılında hali
hazırda tam gün statüde görev yapan 3781 öğretim elemanı olusturmaktadır. Arastırmada
evrenin tamamına ulasma güçlüğünden dolayı 575 öğretim elemanından olusan bir
örneklem seçilmistir. Uygulanan anketlerin % 71.5'i geri dönmüstür. Öğretim
elemanlarının görüslerinin analizinde aritmetik ortalama ve standart sapma gibi betimsel
istatistiklerin yanında, ikili karsılastırmalarda t-testi, üç ya da daha fazla kategorili
değiskenlere göre karsılastırmalarda ise tek yönlü varyans analizi tekniği kullanılmıstır.
Arastırmada varılan sonuçlardan bazıları asağıda özetlenmistir:
1. Üniversitelerin Bologna süreci kapsamında yapılan çalısmalara iliskin olarak
öğretim elemanlarının bilgi eksiklikleri bulunmakta ve sürecin yeterince
anlasılamadığı görülmektedir.
2. Öğretim elemanlarının görüslerine göre üniversitelerde daha çok geleneksel
anlamda eğitim-öğretim ve arastırma gibi islevler yerine getirilmekte, Bologna
Süreci'ne iliskin etkin çalısmalar ve uygulamalar yeterince
gerçeklestirilememektedir.
3. Öğretim elemanlarının unvanlarındaki ilerlemeye ve yaslarındaki artısa bağlı
olarak Bologna Süreci uygulamalarının gerçeklestirilme düzeyine iliskin algıları
olumsuzlasmaktadır. Genç öğretim elemanları uygulamalara iliskin daha olumlu
düsünmektedirler. Bununla birlikte, kadın öğretim elemanları erkeklere oranla
uygulamaların gerçeklestirilme düzeyini daha yüksek değerlendirmislerdir.
4. Öğretim elemanlarının görüsleri fakülte türüne göre değisiklik göstermistir.
Mühendislik ve fen-edebiyat fakülteleri, Bologna Süreci kapsamındaki
uygulamaları gerçeklestirme konusunda eğitim fakültelerine göre daha
basarılıdırlar.
5. Öğretim elemanlarının görüsleri çalıstıkları üniversite türüne göre anlamlı
farklılıklar göstermistir. Bologna uygulamalarının vakıf üniversitelerinde daha
yüksek düzeyde gerçeklestirildiği görülmektedir.
Arastırmanın sonucunda Türk yükseköğretim sisteminde Bologna Süreci
kapsamındaki uygulamaların gelistirilmesine yönelik önerilerde bulunulmustur.This research addressed the question asked to faculty members from four state and
six foundation universities in Ankara concerning how the Bologna Process is progressing
in their individual respective universities.
The study population consisted of 3781 faculty members from the faculties of Art
and Sciences, Education and Engineering within various universities in Ankara.
Participants were the faculty members working at their universities during the two
semesters in 2006/2007 educational year. Out of this population, 575 were selected as the
study sample by using the stratified sampling method. A self developed questionaire was
used to gather data. In data analysis, means and standart deviation were the descriptive
statistics; t-test and ANOVA were the inferential statistics. The differences among groups
were tested at the significant level of .05.
The findings of the study can be summarized as follows:
1. Faculty members had insufficient information on the applications of Bologna
Process and they were not properly convinced by this process.
2. Universities in study sample performed more effectively using traditional ways
and methods like education or research rather than application of Bologna
Process.
3. Older faculty members with higher positions more negatively perceived the
process than the younger ones. Female faculty members perceived the
applications of Bologna Process more positively than the males.
4. The Bologna Process was performed better in the fields of Engineering, Art and
Science compared to the field of Education.
5. The opinions of faculty members vary depending on the type of university. The
application of the Bologna Process has been more succesful in higher levels in
foundation universities.
This research advises on how to effectively implement the Bologna Process within
the Turkish Higher Education System
First record of Chromogobius zebratus (Gobiidae) for the mediterranean coast of Turkey
The Kolombatovic's goby Chromogobius zebratus, was caught for the first time from the Turkish coast of the Mediterranean Sea. The lateral-line system and morphometric features of this species were examined. © Tübitak
The atlantic starfish, Asterias rubens Linnaeus, 1758 (Echinodermata: Asteroidea: Asteriidae) spreads in the Black sea
A single specimen of Asterias rubens was collected on 17 February 2009 off Karasu, Sakarya, Turkey. Its possible impact on Mytilus galloprovincialis beds in the Black Sea is discussed. © 2009 The Author(s)
Immediate and late onset forms of insulin hypersensitivity presenting with glucose dysregulation [Glukoz disregülasyonu ile ortaya çikan erken ve geç başlangiçli ınsulin aşiri duyarliliği]
We report the case of a 35-year-old woman allergic to detemir, neutral protamine Hagedorn, and glargine. Initially, local reactions to the insulin preparations occurred, which continued even after the types of insulin and the application areas were changed. When the use of insulin therapy was continued, the local reactions developed into systemic forms. Interestingly, blood glucose levels kept increasing to uncontrolled levels every time the cutaneous reactions occurred. The patient was referred to our clinic for further investigation. The results of the skin prick tests with insulin preparations were negative; however, the intradermal test results were positive with the following dilutions of the insulin preparations: 1/100 detemir, 1/100 glargine, 1/1.000 neutral protamine Hagedorn, and 1/1.000 regular insulin. The intradermal skin test results for glulisine, aspart, and lispro were negative. The levels of immunglobulin E specific to human insulin were high (194 kU/L; N 0-87 kU/L); whereas, the specific immunglobulin G4 levels were normal (35 mg/dL; N 0-125 mg/dL). We attempted to treat the patient with glulisine and aspart; however, similar reactions were observed with these insulin preparations as well. As we considered the levels of the anti-insulin antibodies and the late-onset local reactions, the insulin allergy in our patient was reckoned to be mediated by Type 1 and Type 4 hypersensitivity. The only insulin preparation that had never been used with this patient before was lispro, which also demonstrated negative intradermal skin test results. Therefore, we suggested the use of a continuous subcutaneous insulin infusion pump with lispro. Finally, the insulin hypersensitivity was successfully treated, and glycemic control was achieved. © 2018 by Turkish Journal of Endocrinology and Metabolism Association