Meckel-gruber syndrome, a rare fetal anomaly: a case report

Otozomal resesif geçisli bir hastalık olan Meckel-Gruber Sendromu (MGS), multipl konjenital anomali içeren nadir bir hastalıktır ve letal seyreden bir sendromdur. MGS'nin klasik triadı; bilateral kistik renal displazi, oksipital ensefalosel ve postaksiyal polidaktilidir. Bunlardan üçünden en az ikisinin olması tanıyı koydurur. Bu yazıda intrauterinMGSsaptanan bir olgu sunulmasını amaçladık. Son adet tarihine göre 23 hafta 5 günlük gebelik + multipl fetal anomali nedeni ile gebe poliklinigimize refere edilen olgu obstetrik ultrasonografi ile degerlendirildi. Yasayan 2 saglıklı çocugu olan 26 yasındaki olgunun hikayesinden, daha önce 32. gebelik haftasında ölü dogum öyküsü oldugu, nedeninin bilinmedigi ama polidaktilisi bulundugu ögrenildi. Olgunun yapılan ultrasonunda fetal bilateral multikistik displastik böbrek, her iki elde polidaktili, bilateral ventrikülomegali ve anhidroamniyos saptandı. MGS düsünülen ve anhidramniyosu olan gebeye konsey kararı sonucu ve ailenin istegi ile tıbbi tahliye uygulandı. 750 gram agırlıgında bir erkek bebek ölü olarak dogurtuldu. Genetik incelemesi yapılan fetusun kromozom analizi normal (46, XY) olarak geldi. Otopsi sonucunda bilateral polikistik böbrek, her iki el ve ayaklarda polidaktili ve micrognati mevcuttu. Prenatal bilateral genislemis multikistik böbrek tanısı MGS'yi akla getirmelidir ve santral sinir sistemi malformasyonları ve polidaktili arastırması yapılmalıdır. Bununla birlikte fetal otopsinin tanının dogrulanmasında önemlidir.Meckel-Gruber Syndrome (MGS), an autosomal recessive disease, is a rare and lethal syndrome with congenital polymalformations Classical triad of MGS is bilateral cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. For diagnosis, two out of these three findings required to be present. In this article, we aimed to present a case with intrauterineMGS. Patient with 23 weeks and five days pregnancy (according to her last menstrual period) with multiple anomalies was evaluated by obstetric ultrasonography. The obstetric history of the 26-year-old patient revealed that she had 2 healthy living children and one previous intrauterine ex fetus with polydactyly and an unknown cause at 32 weeks of gestation. Ultrasonographic examination of the case showed fetal bilateral multicystic dysplastic kidney, polydactyly in hands, bilateral ventriculomegaly and anhidroamnios. The case was diagnosed as MGS and underwent medical termination of pregnancy with the consent of family and the council of doctors. An ex male infant weighing 750 grams was delivered. Genetic analysis showed normal chromosome analysis (46, XY). Bilateral polycystic kidneys, and polydactyly of both hands and feet, and microgynathy were found in autopsy. Investigation of central nervous system malformations and polydactyly should be conducted in patients with prenatal detection of bilateral enlarged multicystic kidneys, when MGS is considered as a possible diagnosis. Furthermore verification of the diagnosis with fetal autopsy is important

The genetic structure of the Turkish population reveals high levels of variation and admixture

The construction of population-based variomes has contributed substantially to our understanding of the genetic basis of human inherited disease. Here, we investigated the genetic structure of Turkey from 3,362 unrelated subjects whose whole exomes (n = 2,589) or whole genomes (n = 773) were sequenced to generate a Turkish (TR) Variome that should serve to facilitate disease gene discovery in Turkey. Consistent with the history of present-day Turkey as a crossroads between Europe and Asia, we found extensive admixture between Balkan, Caucasus, Middle Eastern, and European populations with a closer genetic relationship of the TR population to Europeans than hitherto appreciated. We determined that 50% of TR individuals had high inbreeding coefficients (≥0.0156) with runs of homozygosity longer than 4 Mb being found exclusively in the TR population when compared to 1000 Genomes Project populations. We also found that 28% of exome and 49% of genome variants in the very rare range (allele frequency < 0.005) are unique to the modern TR population. We annotated these variants based on their functional consequences to establish a TR Variome containing alleles of potential medical relevance, a repository of homozygous loss-of-function variants and a TR reference panel for genotype imputation using high-quality haplotypes, to facilitate genome-wide association studies. In addition to providing information on the genetic structure of the modern TR population, these data provide an invaluable resource for future studies to identify variants that are associated with specific phenotypes as well as establishing the phenotypic consequences of mutations in specific genes

Ulusaldan Küresele: Popülizm, Demokrasi, Güvenlik Konferansı

Öngörülmesi giderek güçleşen, sarsıntılı ve savrulmalı zamanlardan geçiyoruz. İkinci Dünya Savaşı ve Soğuk Savaş ortak deneyimleri sonrasında 1950’lerden ve 1990’lardan itibaren demokratik sistemlerin peş peşe dalgalarla meşrulaşacağı, yaygınlaşacağı ve güçleneceği öngörüsü hakimdi. Ancak son yıllarda yaşanan bazı gelişmelerle demokrasilerin geleceği tekrar sorgulanmaya başladı. Gerek 11 Eylül ile başlayan ve IŞİD ile devam eden ve şiddet içeren İslamcı radikalizm, gerek Batı demokrasilerinde popülist radikal sağ hareketlerin ve beyaz ırkçı grupların yükselişi ve iktidara gelişi, bir yandan güvenlik-özgürlük ikileminin demokrasi dengesini bozdu, bir yandan da hem demokratik sistemlerin hem dünya barışının geleceğini bizi tekrar sorgular, sorgulatır hale getirdi. Demokrasileri bildiğimizi zannediyoruz, ama demokrasiler ile ilgili daha öğrenmemiz gereken çok şey var. Demokrasi kaderimiz de geleceğimiz de olmak zorunda değil belki de. Ya da belki yanlış yerden soru sormaya başlıyoruz, belki demokrasi yerine yeni bir referansa ihtiyacımız var. Aslında demokrasileri çantada keklik görmeyip, sabırla büyütüp yeşertmek, geliştirmek, korumak, ileri safhalara taşımak ve bizden sonraki nesillere aktarmak bir sorumluluk, ve bu sorumluluk bizlere ait. Popülizm, demokrasi, güvenlik kavramlarının her biri bugün sıkça ve yaygın olarak kullandığımız kavramlar olarak gündelik sohbetlerimizin içine kadar girmiş durumda. Bu yaygın kullanımlarına rağmen her bir kavram, üzerine düşünmeye, tartışmaya ve değerlendirmeye tekrar tekrar olanak verecek derinlikte. Her bir tartışma bir diğerini açarken, farklı gibi görünen bu kavramların birbirleriyle kesiştikleri zeminler bulmak mümkün. Popülist liderlerin politikaları bütün siyaset yapma biçimlerini kendine çeken ya da kendinden uzaklaştıran eksenler yaratarak her ikisini de aynı anda besleyebiliyor. Popülist politikaya angaje olan liderler ve grupların yanında bu politikaya karşı mücadele eden kişiler ve kitleler de yok değil, ancak kimi zaman bu kitleler eleştirdiği bu siyaset biçiminin kurucu öznesi haline de gelebiliyor. Bunun karşısında tabandan gelen demokratikleşme talepleri ve popülist siyasetle beraber kurumsallaşan diğer politika yapma biçimleri, demokrasi anlayışımızı farklı yönlere çekebiliyor. Bu demokratikleşme talepleri kimi zaman olumlu karşılıklar alsa da, kimi zaman devletlerin güvenlik politikaları ile etkisizleştirilmeye ve bastırılmaya çalışılıyor. Güvenlik politikalarının alanı günümüz teknolojisi sebebiyle o kadar genişledi ki, bu politikanın nesnesi haline gelmemiş varlık ve alan bulmak neredeyse mümkün değil. Ulusaldan Küresele: Popülizm, Demokrasi, Güvenlik konferansımız bu alanların kendine özgülüklerini göz önünde bulundururken, aralarındaki kesişimleri de ortaya koyan pek çok değerli sunuma ev sahipliği yaptı. Konferansın düzenlenmesinde emeği geçen herkese, ve bu bildiri kitabında tam metinleri ve özetleri bulunan bütün katılımcılarımıza çok teşekkür ederiz.Publisher's Versio

The relationship between childhood traumas and aggression levels in adults

The effect of childhood traumas in adulthood psychopathology is considerable. There are studies indicating that there is cause and effect relation between adulthood aggression and childhood traumas. However, in Turkey, there are few studies on this subject. The results of these studies are controversial in some aspects. This research was designed to look into the relation between aggression level and childhood traumas in Turkish society. Childhood Trauma Questionnaire and Buss Perry Aggression Questionnaire were applied to 50 healthy individuals who were chosen randomly in Beylikduzu district of Istanbul province and who did not get any neuropsychiatric diagnosis. The childhood trauma levels of the participants were detected as significantly high but their aggression levels were detected as normal. A positive meaningful correlation was detected between the Childhood Trauma Questionnaire scores and Buss-Perry Aggression Questionnaire scores. These results are supporting the idea that childhood trauma may be among the predisposing factors of adulthood aggression. [Med-Science 2018; 7(3.000): 622-6

A generalization of openstack for managing heterogeneous cloud resources Heterojen bulut kaynaklarinin yonetimi için openstack genelleştirimi

This paper describes the generalization of OpenStack cloud resource management software to manage hardware resources other than the standard resources on the servers. To this end, OpenStack resource data structure is updated and the Nova project, which runs on the compute node, is rewritten so that it can run on different hardware platforms without depending on the operating system

OpenStack Generalization for Hardware Accelerated Clouds

OpenStack is a widely used management tool for cloud computing which is designed to work on servers and allocate standard computing resources such as CPU, memory or disk. The current trend for integrating different hardware accelerators such as FPGAs and GPUs in the cloud requires managing these heterogeneous resources. In this paper, we propose a generalization for OpenStack Nova project which extends the relevant data structures to include these new resources. More importantly, we present a new lightweight Nova Compute module that we call Nova-G Compute. Nova-G Compute is suitable to work with different hardware platforms and can communicate with the rest of the OpenStack Projects. We implement a hypervisor-like software to enable Nova-G Compute accessing the FPGA resources. We perform experimental evaluation of Nova-G Compute using the known and used OpenStack benchmarking tool Rally. Our results show that Nova-G Compute works as desired without any reduced performance compared to standard Nova

CLOUDGEN: Workload generation for the evaluation of cloud computing systems CLOUDGEN: Bulut Bilişim Sistemlerinin Başarim Deǧerlendirmesi icin Iş Yuku Uretimi

In this paper, we propose CLOUDGEN workflow that produces synthetic workloads for Infrastructure and Platform as a Service for the evaluation of resource management approaches in cloud computing systems. To this end, CLOUDGEN systematically processes and clusters records in a given workload trace and fits distributions for different workload parameters within the clusters. Different than the previous work, clustering is carried out to produce different virtual machine types for achieving models that are suitable for producing Infrastructure and Platform as a Service workload models. Finally, we demonstrate CLOUDGEN by modeling recent Azure traces with enough detail to enable researchers to use these models and generating synthetic traces that are statistically similar to the Azure traces

ACCLOUD (Accelerated CLOUD): A novel FPGA-Accelerated cloud archictecture-ACCLOUD: FPGA ile Hızlandırılmış Yeni bir BulutMimarisi

In this paper, we propose ACCLOUD (ACcelerated CLOUD) as a a novel architecture for cloud data centers. ACCLOUD features FPGA cards which work with the cloud servers or stand alone for hardware acceleration in the data plane. To this end, FPGA reconfigurable regions are virtualized and offered to the user together with other cloud resources including CPU, memory or disk. The cloud control is carried out within OpenStack framework incorporating the hardware resources. We propose a novel resource management approach for ACCOUD which fulfills the user requests by considering the tradeoffs between assignment of soft computing resources and hardware accelerators

Low-Cost High-Resolution Potentiostat for Electrochemical Detection of Nucleic Acids and Biomolecular Interactions

A handheld USB-powered instrument developed for the electrochemical detection of nucleic acids and biomolecular interactions is presented. The proposed instrument is capable of scanning ± 2.25 V while measuring currents up to ±10 mA, with a minimum current resolution of 6.87 pA. Therefore, it is suitable for nucleic acid sensors, which have high background currents. A low-cost microcontroller with an on-chip 16-bit analog-to-digital converter, 12-bit digital-to-analog converter, and a built-in USB controller were used to miniaturize the system. The offset voltages and gain errors of the analog peripherals were calibrated to obtain a superior performance. Thus, a similar performance to those of the market-leader potentiostats was achieved, but at a fraction of their cost and size. The performance of the application of this proposed architecture was tested successfully and was found to be similar to a leading commercial device through a clinical application in the aspects of the detection of nucleic acids, such as calf thymus ssDNA and dsDNA, and their interactions with a protein (BSA) by using single-use graphite electrodes in combination with the differential pulse voltammetry technique

The use of Jackson-Pratt silicone flat drains as prolonged pleural catheters for the management of pleural effusions

İstanbul Bilim Üniversitesi, Tıp Fakültesi.Introduction: Imbalance between secretion and absorbtion of pleural fluid results in pleural effusion. Emergence of pleural effusion ipsilateral or contralateral to the side drained previously is named recurrent effusion. There is currently no standart approach for the management of recurrent pleural effusions. Materials and methods: Eighteen patients, treated between 2011 and 2012 for recurrent pleural effusions due to various etiologies, not considered for surgical or other treatments, and underwent placement of prolonged pleural catheters ( Jackson-Pratt drain ) were included in this study. Twenty two prolonged pleural catheters were inserted in 18 patients. There were 10 females and 8 males, with mean age 59 (35-77). In 20 patients the catheters were inserted by an anterior approach, and by a posterior approach in one patient. Daily drainage above 1,500 mL was not permitted in order to avoid pulmonary edema. Catheters were removed in patients who had lung expansion and drainage under 50 mL/day