Osborn wave in hypothermia and relation to mortality

Kalkan, Asim/0000-0002-5800-0201; Serbest, Sancar/0000-0003-2696-8303; eroglu, oguz/0000-0001-7033-8566WOS: 000470109200011PubMed: 30170934Background & aim: The aim of this study was to compare hypothermia patients with and without an Osborn wave (OW) in terms of physical examination findings, laboratory results, and clinical survival. Methods: The study was carried out retrospectively on hypothermic patients. The hypothermic patients were divided into two groups. Group 1 comprised patients with OW on electrocardiogram (ECG), and Group 2 comprised patients without OW on ECG. The Mann-Whitney U test was used to compare the two groups, and the relationships between the variables and the presence of OW and mortality were analyzed with ANOVA. A value of p < 0.05 was considered statistically significant. Results: OW was detected on ECG of 41.9% of the patients (Group 1). The mean body temperature was 30.8 +/- 4.1 degrees C in Group 1 and 33.3 +/- 1.6 degrees C in Group 2 (p = 0.106). The mean creatinine level was 1.01 +/- 0.6 mg/dl in Group 1 and 0.73 +/- 0.5 mg/dl in Group 2 (p = 0.046). The mean bicarbonate level was 15.9 +/- 3.8 mmol/l in Group 1 and 18.6 +/- 3.5 mmol/l in Group 2 (p = 0.038). A relationship was determined between the presence of OW and pH, bicarbonate, and creatinine levels (p = 0.026; 0.013; 0.042, respectively). The mortality rate was 69.2% in Group 1 and 77.8% in Group 2 (p = 0.689). Conclusion: Although there is a relationship between the decrease in bicarbonate levels, changes in kidney functions that cause acidosis, and the presence of OW, it has no effect on mortality. The presence of OW in hypothermic patients is insufficient to make a decision regarding mortality. (C) 2018 Elsevier Inc. All rights reserved

Chanarin-Dorfman Syndrome: A Case Report

Chanarin-Dorfman syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in various types of cells. Mutation of ABHD5/CG158 gene in the short arm of the 3rd chromosome is responsible from the main metabolic defect. Clinically, the disease is presented with ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation. Here we present a case of Chanarin-Dorfman syndrome in a 2 years girl with who had ichthyosis, elevation of liver enzymes, hepatomegaly and mutation of ABHD5

A Rare Case: Touraine Solente Gole Syndrome

Touraine-Solente-Gole syndrome, also known as pachydermoperiostosis, is transmitted as an autosomal recessive trait. It is characterized by enlargement of fingers and toes, pachyderma, excessive sweating, and pain. In this paper, we present a 9-year-old patient to attract attention to this rare disease. A 9-year-old female patient was brought to our outpatient clinics with sweating and enlargement of hands and feet. She was the fourth child born to consanguineous parents. Her 26-year-old elder sister also had the same symptoms. Her physical examination revealed clubbing of the hands, and thick and sweating fingers. Her test results were unremarkable. Hand x-ray revealed epiphyseal, and metaphyseal thickening of the hands, and periostal hyperosteosis. Pachydermoperiostosis usually begins in childhood, progresses till 20 years of age, then, ceases. Delayed closure of fontanelles, and patent ductus arteriosus may be symptoms of the disease. Patients with deletions and mutations in HPGD (15-hydroxy prostaglandin dehydrogenase) gene (4q33-q34) demonstrate this phenotype. This syndrome is more frequent in females, and mimics rheumatic diseases. Ibuprofen therapy may be used for bone pain. Colchicine is the alternative treatment. In cases of excessive hand and feet sweating associated with clubbed fingers pachydermoperiostosis should be brought to mind

Memory function in patients with obsessive compulsive disorder and the problem of confidence in their memories: A clinical study

Aim: To examine obsessive-compulsive patients for memory of obsessive-compulsive relevant material and confidence in their memory. Methods: Memory function was examined by a recognition task using neutral and obsessive-compulsive relevant sentences in 32 patients with obsessive-compulsive disorder and 31 control subjects. We also investigated the participants' confidence in the accuracy of their recognition. The severity of obsessive-compulsive disorder was evaluated by using the Yale-Brown Obsessive Compulsive Scale. The Maudsley Obsessive Compulsive Questionnaire, the Hamilton Depression Rating Scale, and the State-Trait Anxiety Inventory were also administered to the two groups. Results: Whereas obsessive-compulsive disorder patients were not significantly different from control subjects on measures of recognition memory for both obsessive-compulsive relevant and neutral material, they were significantly less confident in the memory for obsessive-compulsive relevant and neutral sentences. Also, the State-Trait Anxiety Inventory (STAI) scores were negatively correlated with the recognition performance of obsessive-compulsive disorder relevant sentences and the levels of confidence in memory in the obsessive-compulsive disorder group. The obsessive-compulsive patients with checking compulsions were not different from non-checking obsessive-compulsive patients. Conclusion: Our results suggest that obsessive-compulsive patients experience difficulties in confidence in their memory, possibly related to anxiety rather than primary memory deficits

Sınır sahipliği ile görüntülerden hassas görsel bilgi edinimi

TÜBİTAK EEEAG01.10.2015Tekdüze görüntü alanlarının neden olduğu eksik ve muğlâk görsel bilginin düzeltilebilmesi, ilgili görüntü alanlarını çevreleyen sınırlardaki (görüntü işleme diliyle; kenarlardaki) güvenilir görsel bilgilerin ‘içeriye doldurma’ mekanizması kullanılarak görüntü alanlarının iç kısımlarına iletilmesiyle mümkün olabilir. Ancak, bu yöntemin kullanılabilmesi, görüntü alanlarının sınırlarının daha önceden belirlenmesini gerektirir; bir başka deyişle, görüntüdeki her kenara bir ‘sınır sahipliği’ bilgisi verilmiş olmalıdır. ‘Sınır sahipliği’ bilgisi, görüntüdeki kenarları ve alanları birbirine bağlar; böylece, kenarlardaki güvenilir görsel bilgi, doğru alanların içine doğru aktarılabilir. Bu projede üç hedefi gerçekleştirilmiştir: (1) Sınır sahipliğinin belirlenmesi için önemli mekanizmaları incelemek, (2) bu inceleme sonuçlarını kullanan bilişimsel (ing. computational) bir model geliştirmek ve (3) bu bilişimsel modeli, yerel mekanizmalar kullanan, önemli görme problemlerine uygulayarak, sınır sahipliği bilgisinin görsel bilginin kalitesi ve niceliği üzerindeki etkisini göstermek. İlk hedefimizde, insan denekler tarafından sınır sahipliği işaretlenecek ve incelememiz için temel oluşturacak görüntüler toplanmıştır. Sınır sahipliği işaretlenmiş bu görüntüleri kullanarak, sınır sahipliği bilgisi ve farklı görsel öğeler arasında incelemesi yapılmıştır. Bu türden bir yaklaşımın, sınır sahipliği gibi henüz işleme mekanizması anlaşılamamış bir problem için oldukça uygun olduğunu düşünüyoruz; çünkü insan görme sisteminin görüntülerdeki düzenliliği kullandığı ve bu düzenliliği (işaretlenmiş görüntüler üzerinden) incelemenin farklı algısal mekanizmaların çalışma prensipleri hakkında ipuçları taşıyacağı literatür tarafından yaygın olarak kabul görmektedir. İkinci hedefimiz için, sınır sahipliği bilgisi taşıyan farklı veri kaynaklarını ve bu kaynaklar arasındaki ilişkileri modellemek için farklı bilişimsel yöntemler geliştirdik. Bu yöntemler arasında, tensör oylama, olasılıksal rastgele alan, karar destek makineleri, Bayes sınıflandırma, AdaBoost sınıflandırma sayılabilir. Ayrıca, bu yöntemleri verisetimiz üzerinde detaylı bir biçimde kıyaslamış bulunmaktayız. Bilişimsel modeli geliştirdikten sonra, modelimizi yerel hesaplama yöntemleri kullanan üç önemli görme problemi olan, optik akış ve stereo görme hesaplamalarına ve kenarlardaki derinlik bilgisini kullanarak görüntü alanları içerisinde derinlik öngörme problemlerine uyguladık ve sınır sahipliği bilgisinin farklı seviyelerde katkı sağladığını gösterdik.One way to rectify the ambiguous and the incomplete visual information is to utilize the reliable visual information available at the borders (in image processing terms, the edges) of the regions by ‘filling-in’ mechanisms, which diffuse the information in to the regions. However, such mechanisms require that the borders of the regions have already been determined; i.e., each border in the scene is assigned to a region. ‘Border ownership’ links the regions and the edges in the scene; in this way, the reliable information at the edges can be diffused into the correct regions. In this project, we achieved three goals: (1) Investigate the mechanisms important for determining border ownership. (2) Use and interpret the results of the investigation in item (1) to develop a computational model that would estimate the border ownership of the edges in the images. (3) Apply the developed computational model to important vision problems to demonstrate that using border ownership improves acquisition of reliable and complete visual information. As our first goal, we collected human-labeled dataset that contains the border ownership of the edges. Using this labeled data, we investigated the relationship between different visual information and the border ownership assignment. We argue that such an investigation is crucial for a problem whose underlying mechanisms are unkown (like border ownership) since it is known that human vision system utilizes the regularities in the scenes and investigating such regularities (from labeled data) can yield important facts about different visual processes. As our secold goal, we developed several computational methods to estimate border ownership. The developed methods include tensor voting, conditional random field, support vector machines, Bayesian classification, AdaBoost learning etc. Moreover, we evaluated all these algorithms on our dataset. As our final goal, we applied the computational model derived in our second goal to three important vision problems: optic flow and stereo disparity computation, and depth estimation at image regions from the edges in the scene, and showed that border ownership improves the quality of such visual information

Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study

Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with non-syndromic early onset severe obesity

Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study

Objective: Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with nonsyndromic early onset severe obesity. Methods: Children with severe (body mass index-standard deviation score >3) and early onset (<7 years) obesity were screened by next-generation sequencing based, targeted DNA custom panel for 41 known-obesity-related genes and the results were confirmed by Sanger technique. Results: Six novel variants were identified in five candidate genes in seven out of 105 children with severe obesity; two in SIM1 (p.W306C and p.Q36X), one in POMC (p.Y160H), one in PCSK1 (p.W130G fs Ter8), two in MC4R (p.D126E) and one in LEPR (p.Q4H). Additionally, two previously known variations in MC4R were identified in four patients (p.R165W in three, and p.V166I in one). Conclusion: We identified six novel and four previously described variants in six obesity-related genes in 11 out of 105 childrens with early onset severe obesity. The prevalence of monogenic obesity was 10.4\% in our cohort