The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

Cover Design In Periodicals

The word 'design', which is derived from the word 'designare', that means 'pointing something' stands for, in pictorial terms, pointing only one single thing in an ambience that includes more than one stimulus Graphic design, with its visualization, is the simplest way of giving message, which can grasp human perception and transmit the message to the target after seconds. In other words, Graphic Design is the communication language of our times. The act of designing is aimed to mark, impress, be unique, concretize and resolve. Moreover, since this act is closely related to visual arts, it requires good sight and drawing skills. Therefore, in universities, faculties of fine arts have begun to give graphic education. Accordingly, graphic designer is also likely to be labelled as an artist considering that he/she is a unique creator. The most important point that distinguishes between design and art is the supply-demand relation that always exists in the design applications. A reliable dialogue ambience should be established between client and designer in the stages of emerging of design, production and resulting. Among the applications of Graphic Design field, institutional identity design, press announcement, web design, poster, indoor and outdoor ads, TV credits, book and temporary publication designs can be included. All these graphic products have design problems that can be resolved in different media by using different ways. Periodicals forming the subject of this Workshop comprise one type of desktop publishing which could be extremely complicated to be designed, because they have varying messages and contents. Initially, cover design of periodicals are tasked to submit the service to the receiver ( reader) from the beginning of the action and to transmit messages of the content being evaluated orally and visually in the most precise and simplest way. For this reason, covers of periodicals should be designed with a relevant visual quality which is simple and attractive represents the content that it is corresponded and is effective even among other publications. Periodicals, at first sight, attract attention due to their cover visual quality, whatever their content is. Cover design should convey headlines and attractive issues to the individuals glancing at book shelves. The cover of a periodical, the content of whichever is science, art or fashion, should express both its issues and purpose through an artistic and unique approach. The solutions for cover design of periodicals, which pose a designing problem due to the structure mentioned, are no different than a cover of a book or a press announcement introducing a product. The fact that an attractive cover depends on artistic creation and unique visual design should be taken into consideration. In this paper, which is chosen as the title of this Workshop, the problems that need to be mentioned in all design fields as well as in the cover and pages of temporary publications will be examined 'visually'. At first, qualified samples will be investigated and the key points and wrong applications which necessitate attention for cover designs will be conveyed, and then the steps of execution and technical issues will be presented. During the execution of the workshop, the answers about how to design a cover of a journal according to its subject(s) and how to resolve the problems occurred in the execution of cover designing will be investigated through experimental design methods. The purpose of the activity is to produce designs, by which messages of periodicals on education, science, art, design, environment, etc., can be conveyed to target audience visually and to create aesthetic styles related to subject titles (Titles can be expanded in accordance with concerns of workshop participants, for instance, design proposals may be submitted for journals supporting the activity). The subjects can be varied in similar ways without changing the purpose of the workshop. The techniques that will be used for the workshop are basic designing tools and techniques such as photograph, collage (2-D cutpaste), illustration and designing programs. For example, a sketch arranged using collage technique or a photograph related to the subject will be transmitted to computer environment and integrated using typography, and then will be converted into a visual design. Size of journal cover will be in A4 format. Necessary equipment (for minimum level): A computer, a colour printer, camera (participants may be responsible for bringing their own cameras), white and coloured paper, various journals and newspapers (for collage technique), scissors, glue, ink brush, lead pencil and eraser. All the equipment except computer and printer may be supplied by participants. Duration and program: 4 February 2008, 2 hours, presentation and kick off the project 5 February 2008, 3 hours, carrying on the work 6 February 2008, 3 hours, completing the work and exhibiting Maximum 10 students will be accepted. The following methods can be used for searching the subject and observing different samples. -The usage of internet is an excellent source for graphic designers as is for everyone. Hundreds of source materials can be supplied for participants to enable them to see other designers' works and qualified samples. The addresses of some websites which should be investigated will be given to the participants in the presentation. -Urban or human portrait snapshots which are related to the subject may be taken for photo shooting. It is possible to observe the environment and gather visual items conforming to cover design through selectivity principle. -Opinions, visual notes, titles, quotations and photographs regarding the subject being examined can be stored by using a sketch notebook. (C) 2009 Elsevier Ltd. All rights reservedWoSScopu

Sürü zekâsında yeni bir yaklaşım: Kuş sürüsü algoritması

Matematiksel programlama olarak da bilinen optimizasyon, bir amaç (değerlendirme) fonksiyonuna göre bir problemde belirli aralıktaki sayısal değerlerin en uygununu seçen işlemler topluluğudur. Optimizasyon problemleri için birçok algoritma önerilmiştir. Bu algoritmaların çoğu sistemin modeli ve amaç fonksiyonu için matematiksel modellere ihtiyaç duymaktadır. Sürü zekâsına dayalı algoritmalar, büyük boyutlu optimizasyon problemleri için, kabul edilebilir sürede optimum ya da optimuma yakın çözümler verebilen algoritmalardır. Matematiksel modelin çıkarılamadığı durumlarda kabul edilebilir sürede sonuç elde edebilmek amacıyla genel amaçlı sezgisel optimizasyon algoritmaları kullanılır. Genel amaçlı sezgisel optimizasyon algoritmaları, biyoloji tabanlı, fizik tabanlı, sürü tabanlı, sosyal tabanlı, müzik tabanlı, kimya tabanlı, spor tabanlı ve matematik tabanlı olmak üzere sekiz farklı grupta değerlendirilmektedir. Sürü zekâsı tabanlı optimizasyon algoritmaları kuş, balık, kedi ve arı gibi canlı sürülerinin hareketlerinin incelenmesiyle geliştirilmiştir. Bu çalışmada, sürü zekâsı optimizasyon algoritmalarının en güncellerinden biri olan kuş sürüsü optimizasyon algoritması ayrıntılı olarak incelenmiştir. Bu algoritmanın performansı, farklı boyutlardaki tek modlu ve çok modlu kalite testi fonksiyonları kullanılarak test edilmiştir. Yapılan deneylerde, optimuma yakınsama eğilimi ve elde edilen sonuç değerleri, performans ölçütü olarak kullanılmıştır. İnceleme sonuçları karşılaştırmalı tablolar aracılığıyla sunulmuş ve yorumlanmıştır. Bu algoritma ile hem tek modlu hem de çok modlu kalite testi fonksiyonlarında diğer sürü zekâsı algoritmalarından çok daha iyi sonuçlar elde edildiği için, algoritmanın ileride birçok problemde etkili olarak kullanılacağı beklenmektedir.Matematiksel programlama olarak da bilinen optimizasyon, bir amaç (değerlendirme) fonksiyonuna göre bir problemde belirli aralıktaki sayısal değerlerin en uygununu seçen işlemler topluluğudur. Optimizasyon problemleri için birçok algoritma önerilmiştir. Bu algoritmaların çoğu sistemin modeli ve amaç fonksiyonu için matematiksel modellere ihtiyaç duymaktadır. Sürü zekâsına dayalı algoritmalar, büyük boyutlu optimizasyon problemleri için, kabul edilebilir sürede optimum ya da optimuma yakın çözümler verebilen algoritmalardır. Matematiksel modelin çıkarılamadığı durumlarda kabul edilebilir sürede sonuç elde edebilmek amacıyla genel amaçlı sezgisel optimizasyon algoritmaları kullanılır. Genel amaçlı sezgisel optimizasyon algoritmaları, biyoloji tabanlı, fizik tabanlı, sürü tabanlı, sosyal tabanlı, müzik tabanlı, kimya tabanlı, spor tabanlı ve matematik tabanlı olmak üzere sekiz farklı grupta değerlendirilmektedir. Sürü zekâsı tabanlı optimizasyon algoritmaları kuş, balık, kedi ve arı gibi canlı sürülerinin hareketlerinin incelenmesiyle geliştirilmiştir. Bu çalışmada, sürü zekâsı optimizasyon algoritmalarının en güncellerinden biri olan kuş sürüsü optimizasyon algoritması ayrıntılı olarak incelenmiştir. Bu algoritmanın performansı, farklı boyutlardaki tek modlu ve çok modlu kalite testi fonksiyonları kullanılarak test edilmiştir. Yapılan deneylerde, optimuma yakınsama eğilimi ve elde edilen sonuç değerleri, performans ölçütü olarak kullanılmıştır. İnceleme sonuçları karşılaştırmalı tablolar aracılığıyla sunulmuş ve yorumlanmıştır. Bu algoritma ile hem tek modlu hem de çok modlu kalite testi fonksiyonlarında diğer sürü zekâsı algoritmalarından çok daha iyi sonuçlar elde edildiği için, algoritmanın ileride birçok problemde etkili olarak kullanılacağı beklenmektedir

Bird swarm algorithms with chaotic mapping

Swarm intelligence based optimization methods have been proposed by observing the movements of alive swarms such as bees, birds, cats, and fish in order to obtain a global solution in a reasonable time when mathematical models cannot be formed. However, many swarm intelligence algorithms suffer premature convergence and they may stumble in local optima. Bird swarm algorithm (BSA) is one of the most recent swarm-based methods that suffers the same problems in some situations. In order to obtain a faster convergence with high accuracy from the swarm based optimization algorithms, different methods have been utilized for balancing the exploitation and exploration. In this paper, chaos has been integrated into the standard BSA, for the first time, in order to enhance the global convergence feature by preventing premature convergence and stumbling in the local solutions. Furthermore, a new research area has been introduced for chaotic dynamics. The standard BSA and the chaotic BSAs proposed in this paper have been tested on unimodal and multimodal unconstrained benchmark functions, and on constrained real-life engineering design problems. Generally, the obtained results from the proposed novel chaotic BSAs with an appropriate chaotic map can outperform the standard BSA on benchmark functions and engineering design problems. The proposed chaotic BSAs are expected to be used effectively in many complex problems in future by integrating enhanced multi-dimensional chaotic maps, time-continuous chaotic systems, and hybrid multi-dimensional maps.WOS:0005132751000182-s2.0-8506427301

Textural and compositional evidence for magma mixing in the evolution of the Camhdere volcanic rocks (Galatean Volcanic Province), Central Anatolia, Turkey

International audienc

Early Miocene adakite-like volcanism in the Balkuyumcu region, central Anatolia, Turkey: Petrology and geochemistry

International audienceThe Balkuyumcu region, located in the southwestern part of Ankara in the Izmir-Ankara suture zone (central Anatolia, Turkey), consists of basic andesitic, andesitic, dacitic and rhyolitic rocks extruded during the Early Miocene (20–22 Ma) as a result of post-collisional volcanism. Balkuyumcu volcanic rocks can be divided into two groups on the basis of their mineralogy and composition: The basic andesitic (BA) and andesitic, dacitic and rhyolitic (ADR) groups. The ADR and BA group of rocks have adakite-like and calc-alkaline characteristics, respectively. The ADR group has higher SiO2 content, Sr/Y and La/Yb ratios and low MgO, Mg#, Y and Yb contents than the BA group. Both groups have nearly the same Sr, Nd isotopic compositions and display similar normalized multi-element patterns with enrichments in LILE and LREE, depletions in Nb, Ti, Zr, P and a lack of Eu anomalies. Major, trace element and Sr, Nd isotopic data indicate that both groups of rocks were derived from the same source but affected by different magmatic processes during ascent. The adakite-like rocks may have been produced by partial melting of thickened lower continental crust. Fractional crystallization also played a major role in their formation. However, the BA group rocks were derived from partial melting of lower continental crust that was probably delaminated. These rocks appear to have had limited interaction with mantle peridodite during ascent to the surface

Larinksin Nadir Bir Patolojisi:Laringopiyosel

Larinksin Nadir Bir Patolojisi: Laringopiyosel&nbsp;AMAÇ:Laringosel, laringeal ventrikül sakkülünün anormal bir şekilde genişlemesidir. Kese cidarında pseudostratifiye kolumnar silli epitel yer alır ve ventrikül ile bağlantıyı sağlar. Etiyolojisi net ortaya konulmamakla birlikte, intralaringeal basıncı artıran faktörler (üflemeli çalgılar, ağırlık kaldırma) suçlanmaktadır. Laringosel olgularının yaklaşık %8’i enfekte olup, klinik tablo laringopiyosel olarak tanımlanır. Klinik görünüm sıklıkla endişe vericidir. Dispne, disfaji ve stridor izlenebilir. Hızlı tanı ve erken tedavi yönetimde hayatidir. Bu yazıda, hava yolunda tıkanıklık yapan laringopiyoselin klinik özellikleri ve yönetiminin sunulması amaçlandı.OLGUNUN ÖZELLİKLERİ:&nbsp;Otuz yedi yaşında kadın hasta Kasım 2022’de, yaklaşık altı gün önce başlayan boğazda ağrı, disfaji ve nefes almada güçlükle tarafımıza başvurdu. Fizik muayenesinde boyun sağ tarafı hassas ve ödemli, fleksibl fiberoptik laringoskopide sağ aryepiglottik fold şişkin olarak izlendi. Her iki vokal kord hareketleri doğaldı. Hastanın kan tetkiklerinde C-reaktif protein (CRP) 29.5 mg/L, eritrosit sedimantasyon hızı (ESR) 16 mm/saat, lökosit sayısı (WBC) 10.390 103/ μL olarak saptandı. İntravenöz kontras kullanılarak çekilen boyun Bilgisayarlı tomografide (BT) sağ paralaringeal boşlukta tiroid kıkırdak seviyesinde, tirohyoid membrana doğru herniasyon gösteren ve sağ eksternal tiroid laminasına ilerleyen lobüle, düşük atenüasyonlu yaklaşık 42*32 mm boyutunda periferal kontraslanmanın izlendiği kistik bir lezyon görüldü (Şekil 1,2).&nbsp;TEDAVİ VE PROGNOZ:&nbsp;Mikst tip laringopiyosel ön tanısı ile servisimize yatırılarak intravenöz antibiyotik tedavisine başlandı. Hastaya tedavisinin üçüncü gününde genel anestezi altında tirohyoid membran seviyesinde horizontal lateral servikotomi yoluyla kistik lezyon çıkarıldı. Hastanın dil kökü hemanjiomu nedeniyle lazer cerrahisi öyküsü bulunması ve hava yolunu güvence altına almak amacıyla aynı seansta trakeotomi açıldı. Postoperatif patoloji sonucu laringopiyosel olarak raporlandı. Postoperatif onuncu gününde dekanüle edilerek taburcu edildi.&nbsp;YORUM:&nbsp;Laringopiyoseller akut hava yolu tıkanıklığı riski nedeni ile özenle değerlendirilmelidir. Eksternal ve mikst tip laringopiyosellerde lateral servikotomi yaklaşımı başarıyla uygulanmaktadır. Ancak bu yöntemin süperior laringeal sinirde zedelenme ihtimali unutulmamalıdır. Son zamanlarda endoskopik ve robotik destekli (TORS) cerrahi yöntemleri literatürde bildirilmiştir.</p

The Effect of Grape Seed Extract on the Pancreatic Weight in Diabetic Rats

Objective: The pancreas is a vital organ that produces metabolic hormones and enzymes. Type II diabetes either arises from defective insulin secretion from pancreatic beta-cell cells or a diminished pancreatic beta-cell mass. The possible effects of grape seed extract on various metabolic diseases have been investigated in recent years. This study was designed to determine the effect of grape seed extract therapy on pancreatic mass

Petrogenesis of the Neogene bimodal magmatism of the Galatean Volcanic Province, Central Anatolia, Turkey

International audienceA series of geochemical analyses and radiometric age determinations are undertaken on rock samples collected from the Çamlıdere region in the Galatean Volcanic Province of NW Turkey, to better understand the characteristics of the bimodal Early-Middle Miocene volcanism developed near the Late Cretaceous Tethyan Suture Zone. Çamlıdere volcanic rocks consist of large volumes of older (> 20 Ma) calc-alkaline andesites, dacites and rhyolites and pyroclastites, and small volumes of slightly younger (~ 19 Ma) alkaline trachybasalts and basaltic trachyandesites, cropping out as dykes or small lava flows. The older rocks exhibit elevated LILE, LREE and depleted HFSE contents, carrying geochemical characteristics suggesting earlier subduction process. Some samples of the younger mildly alkaline lavas display geochemical characteristics of intraplate magmatism with enrichment of LILE contents with little or no HFSE depletion. Knowing that the Galatean volcanic rocks experienced syn-volcanic extensional tectonics during the Miocene, we think that the reactivation of the old suture zone produced first calc-alkaline series originated from a subduction-modified subcontinental lithospheric mantle, followed by more alkaline products. However, some volcanic rocks suggest penetration of small amounts of asthenospheric melts to this lithospheric mantle source. The regionally known last volcanic phase produced small amounts of alkaline basaltic rocks in Güvem area at about 10 Ma. Volcanic activities ended possibly with, or just after the Güvem event, when the extensional tectonic regime switched to strike-slip faulting in the region, with the inception of one of the major faults of Turkey, the North Anatolian Fault Zone