Next-generation screening of a panel of genes associated with periodic fever syndromes in patients with Familial Mediterranean Fever and their clinical characteristics

Familial Mediterranean Fever (FMF) is a hereditary fever syndrome that primarily affects Mediterranean populations. For the study, total number of 182 patients with FMF disease were enrolled and screening of a panel of genes, called “fever panel” which comprises 17 genes, was performed. The most common mutations in MEFV gene were homozygous M694V missense mutation (4.3%) and R202Q missense mutation (4.9%). The most common heterozygous mutations were R202Q (26.5%), M694V (25.9%) and E148Q (11.9%). Compound heterozygous and homozygous mutations were also detected. Also, different types of mutations were identified in NOD2, CARD14, NLRP12, NLRP3, NLRP7, IL1RN, LPIN2, TNFRSF1A, MVK and PSTPIP1 genes. Two novel missense variations in the MEFV gene, Gln34Pro and Ile247Val, which have not been previously reported in the databases, were identified. Also, Thr91Ile missense variation in the NOD2 gene, Gly461Cys missense variation in NLRP3 and Tyr732Stop nonsense variation in LPIN2 were firstly identified. The results of the current study suggest that in addition to the MEFV gene which has an important roles in FMF, molecular screening of other genes related to other autoinflammatory diseases might provide support in suspected cases and provide detailed information about the course of the disease. © 2020 Elsevier Inc

Evaluation of tool life - tool wear in milling of Inconel 718 superalloy and the investigation of effects of cutting parameters on surface roughness with Taguchi method

U ovom se radu istraživalo djelovanje brzine rezanja, smjera glodanja (prema dolje, prema gore), sloja premaza (TiAlN i TiAlN-TiN) i broja umetaka držača alata na površinsku hrapavost i trajanje alata kod suhog glodanja superlegure Inconel 718. U prvom su se redu proučavali učinci kontroliranih faktora na radni vijek alata pri brzinama rezanja od v = 50 m/min i v = 100 m/min. Ispitivala se promjena površinskog trošenja ovisno o brzini rezanja. Tipovi trošenja i mehanizmi trošenja su se određivali ispitivanjem optičkih slika istrošenih alata. U drugom dijelu rada, kako bi se istražilo djelovanje kontrolnih faktora na hrapavost površine, primijenjena je L16 Taguchi metoda te su određeni optimalni nivoi kontrolnih faktora, dajući najnižu vrijednost prosječnog parametra hrapavosti površine (Ra). Brzina rezanja je imala veći učinak na vijek trajanja alata nego što su to imali način glodanja i broj umetaka. Glodanje prema dolje je rezultiralo duljim trajanjem alata u usporedbi s glodanjem prema gore. Kod glodanja prema gore dulji radni vijek alata je postignut s 2 umetka pri malim brzinama rezanja, a s 4 umetka pri velikim brzinama rezanja. Pokazalo se da alati obloženi TiAlN-TiN premazom imaju dvostruko dulji radni vijek nego alati obloženi TiAlN premazom. Kod obje metode glodanja najučinkovitije vrste trošenja bile su površinsko trošenje i trošenje vrha alata.In this study, the effects of cutting speed, milling direction (down milling, up milling), coating layer (TiAlN and TiAlN-TiN) and the number of inserts of tool holder on the surface roughness and tool life in dry milling of Inconel 718 superalloy were investigated. In the first place, the effects of control factors on the tool life were studied at the cutting speeds of v = 50 m/min and v = 100 m/min. The alternation of flank wear depending on the cutting time was examined. The types of wear and wear mechanisms were determined by examining the optical images of worn tools. In the second part of the study, for the purpose of investigating the effects of control factors on the surface roughness, L16 Taguchi Technique was used and the optimal control factor levels, giving the lowest value of the average surface roughness parameter (Ra) were determined. The effect of cutting speed on the tool life was more than the effects of the milling type and number of inserts. Down milling resulted in longer tool life compared to up milling method. In up milling, longer tool life was obtained with 2 inserts at low cutting speeds and with 4 inserts at high cutting speeds. TiAlN-TiN coated tools exhibited twice as long tool life than the TiAlN coated tools. For both milling methods, the most effective wear types were flank wear and nose wear

Central Nervous System Vasculitis in Children

Çocukluk çağında santral sinir sistemi (SSS) vaskülitleri, SSS'de izole primer bir hastalık olabileceği gibi altta yatan sistemik hastalıklara sekonder olarak da ortaya çıkabilmektedir. Çocukluk çağı SSS vaskülitleri yakın zamanda tanımlanmış olup ciddi morbidite ve mortaliteye yol açabilmektedir. Primer SSS vaskülitlerinin iki tipi vardır. Bunlar orta ve büyük çaplı damarların tutulduğu anjiografi pozitif tip ve küçük damar tutulumunun olduğu anjiografi negatif tiptir. Birçok enfeksiyon ve sistemik enflamatuvar veya otoimmün hastalık sekonder SSS vaskülitine yol açabilmektedir. Primer ve sekonder SSS vaskülitlerinin klinik, radyolojik, prognoz ve tedavi yaklaşımları farklılık göstermektedir. SSS vasküliti olan çocuklarda erken tanı ve etkili tedavi ile morbidite ve mortalite önlenebilir. Central nervous system (CNS) vasculitis of childhood can occur as a primary disease limited to the CNS or as a secondary manifestation of an underlying systemic disorder. Central nervous system vasculitis in children is a newly recognized disease and can cause severe morbitidy and mortality. Two different subtypes of primary CNS vasculitis are defined: angiography-positive primary CNS vasculitis affecting large and medium-sized vessels, and angiography-negative primary CNS vasculitis affecting small-sized vessels. Many infections and systemic inflammatory or autoimmune diseases can cause secondary CNS vasculitis. Primary and secondary CNS vasculitis of childhood differ in clinical presentation, radiographic findings, prognosis, and treatment. Early recognition and effective treatment may prevent morbidity and mortality of childhood CNS vasculiti

Some Physicochemical Properties of the Whole Fruit Mandarin Jam

The citrus fruits have a high nutritive value and are also beneficial effects for human health due to their high flavonoid content. Mandarin (Citrus unshiu March.) a kind of citrus fruits are consumed as fresh and processed juice and/or juice concentrate. The aim of this work was to produce jam and evaluate its physical, chemical and sensory qualities from satsuma mandarins that are inconsumable or low quality small fruits. The jam was produced with 1:1 fruits: sugar ratios in an open vessel by traditional technique. Produced whole fruit mandarin jam had reasonable favour score from applied hedonic scale. The mean values of total soluble solid, titratable acidity as citric acid, dry matter, ash percent and pH of jam samples on wet basis were found as 70.38, 0.098, 74.77, 0.28 and 2.87 respectively. Hunter L, a and b values of tangerin jam were measured as 45.34, 11.48, and 21.16 respectively. Total phenolic content, antioxidant capacity and vitamine C of sample were measured 201.60 mg/100g as gallic acid equivalent and 102,24 mg FeSO4.7H2O/100g, 0.07 mg/100 g respectively

Examination of microprocessor systems and microprocessor controlled degassing-cut system design

Bu çalışmada, otomotiv endüstrisinde kullanılan, elektronik ve mikroişlemci kontrollü sistemler ile bunların çevre elemanları incelenmiştir. Bu inceleme ve araştırmalar ışığında mikroişlemci kontrollü, elektro-mekanik bir gaz verme-kesme sistemi tasarımı yapılmıştır. Tasarımı yapılan bu sistemin çalıştırılabilmesi için gerekli parametreler hesaplanmış ve elde edilen verilere göre mikroişlemci programı yazılmıştır.In this study, electronic equipments and microprocessor control systems with surraunding elements which are used in Otomotive Industry are examined. To design for system of microprocessor with electro mechanic gas control system are examined and researched. The effect parameters for using on this system are calculated, according to result of them and data. The programme of microprocessor is written

Investigation of the effects of the actuator mechanism and cylinder construction on the volumetric efficiency of the engine

Yüzyılın makinası olarak bilinen içten yanmalı motorlar birçok.kompleks mühendislik problemini de bünyesinde taşımaktadır. Bu nedenle motorlarda performans arttırmaya yönelik çalışmalar, çok parametreli performans olayının bütün yönleri ile incelenmesini gerektirir. Bu parametreler üzerinde ayrı ayrı ya da çok yönlü olarak araştırma ve geliştirme çalışmaları sürdürülmektedir. Motorlarda volümetrik verim ya da dolgu verimi yanma performansının en önünde gelen bir kavramıdır. Volümetrik verim atmosfer şartlan ile silindir içerisindeki termodinamik şartların yanısıra emme sistemindeki bütün elemanların varlığından ve yapısal özelliklerinden basit veya kompleks çok değişik mekanizmalarla etkilenir. Bu çalışmada, dinamik parametrelerden biri olan supap zamanlamasının volümetrik verim üzerindeki etkileri araştırılmıştır. Orjinal kam miline ilave olarak kam profili değişmeyen ancak supap açma ve kapama dereceleri değiştirilen onüç adet kam mili üretilmiştir. Bütün kam milleri ayrı ayrı denenerek, supap zamanlamasının değiştirilmesinin volümetrik verime etkileri deneysel ve teorik olarak incelenmiştir.Internal Combustion Engines, known as the ' machine of the last century ' involves almost all the sophisticated engineering concepts. Therefore studies on improving the performance need multiparametric schemes, these parameters are processed individually or combined. One of the most important of these parameters is the volumetric efficiency which takes part firstly in influencing the cycle efficiency. It is a typical one as being effected from almost all constructive, aerodynamic and thermal parameters through a simple or complicated relation. In this study we have investigated effect of valve timing, a highly dynamic parameter. Beside the original one, thirteen new camshafts have been produced without changing the angles that valves are open. That is new camshafts are produced by shifting the valve-open period. All camshafts are used to determine volumetric efficiency at various engine speeds.Pancar Motor A.Ş.Tofaş A.Ş

Investigation of performance and emission characteristics of waste cooking oil as biodiesel in a diesel engine

Abstract Biodiesel is one of the most popular prospective alternative fuels and can be obtained from a variety of sources. Waste frying oil is one such source along with the various raw vegetable oils. However, some specific technical treatments are required to improve certain fuel properties such as viscosity and calorific value of the biodiesel being obtained from waste cooking oil methyl ester (WCOME). Various treatments are applied depending on the source and therefore the composition of the cooking oil. This research investigated the performance of WCOME as an alternative biofuel in a four-stroke direct injection diesel engine. An 8-mode test was undertaken with diesel fuel and five WCOME blends. The best compromise blend in terms of performance and emissions was identified. Results showed that energy utilization factors of the blends were similar within the range of the operational parameters (speed, load and WCOME content). Increasing biodiesel content produced slightly more smoke and NOx for a great majority of test points, while the CO and THC emissions were lower