A patient with early-onset Alzheimer's disease with a novel PSEN1 p.Leu424Pro mutation

"Presenilin 1" (PSEN1) gene mutations are the major known genetic cause of early-onset Alzheimer's disease. Herein, we report a novel heterozygous PSEN1 mutation (p.Leu424Pro) in a Turkish patient presenting with deterioration of short-term memory and visuospatial skills starting at the age of 47 years. This novel mutation is located in the conserved residue of transmembrane domain 8 coded by exon 12. At the protein level, this mutation caused a disruption in the alpha helix structure of PSEN1. The structural and possible functional consequences of the mutation suggest that it has probably a pathogenic effect, which in turns had a potential role in the development of Alzheimer's disease in our patient. (C) 2019 Elsevier Inc. All rights reserved

Application of solid Carbon dioxide as a novel hemostatic agent on a hepatectomy model in rats

Background: Blood loss and the prolonged operative time for haemostasis is still a great problem after injury or during elective surgery of the liver. Various topical hemostatic agents were introduced to reduce the blood loss. The aim of this study is to evaluate the afficacy of solid carbon dioxide (SoCO(2)) as a hemostatic agent on hepatectomy model

Reliability and Validity of Rowland Universal Dementia Assessment Scale in Turkish Population

Background: The aim is to validate Turkish version Rowland Universal Dementia Assessment Scale (RUDAS). Methods: One hundred forty patients (>65 years) were included. Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition -V was used in all patients. Rowland Universal Dementia Assessment Scale was applied for 2 days. Results were compared with Mini-Mental State Examination; reliability, validity, and statistical values were determined. Results: Time validity was verified. Mini-mental state examination was correlated 45.3% in control and 73% in dementia group. Factor weights varied between 0.44 and 0.81; factor construct was verified as 6-item scoring. When 25 was cutoff point, sensitivity was 92.86% and specificity was 92.86%. Content validity index was found to be 100% by 7 specialists. Cronbach alpha (0.692) and test-retest reliability (intraclass correlation = 0.987) were determined. Conclusion: Rowland Universal Dementia Assessment Scale (Turkish) is validated and verified as reliable. Test could be applied for 5 minutes approximately; results are not affected by educational status, immigrant status, and language used; however, age and gender have significant effect on results

Multicenter study of levodopa carbidopa intestinal gel in Parkinson's disease: the Turkish experience

Background/aim: Our purpose was to determine the efficacy of levodopa carbidopa intestinal gel (LCIG) in a series of Turkish patients with Parkinson's disease (PD)

Dealing with the gray zones in the management of gastric cancer: The consensus statement of the Istanbul Group

The geographical location and differences in tumor biology significantly change the management of gastric cancer. The prevalence of gastric cancer ranks fifth and sixth among men and women, respectively, in Turkey. The international guidelines from the Eastern and Western countries fail to manage a considerable amount of inconclusive issues in the management of gastric cancer. The uncertainties lead to significant heterogeneities in clinical practice, lack of homogeneous data collection, and subsequently, diverse outcomes