667 research outputs found

    Novel SSR4 gene splice variant leads to congenital disorder of glycosylation, type Iy

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    BackgroundCongenital disorders of glycosylation (CDG) are a group of multi-systemic genetic disorders. Over 100 monogenic human diseases were known related with defects in glycosylation process. Defects of SSR4 gene lead to a rare X linked pattern of CDG which has been rarely reported.MethodWe reported a Chinese boy with developmental delay, microcephaly, and epileptic seizures. Whole exome sequencing and Sanger sequencing were performed in the family.ResultA novel maternal splice variant c.351+1del in SSR4 gene was identified by trio-exome sequencing, and confirmed by Sanger sequencing. The functional effect of the variant was further investigated by minigene. The minigene results showed three abnormal splice forms: (1) 1 bp deletion in 3′ end of exon 4; (2) 42 bp deletion in 3′ end of exon 4; (3) skipping of exon 4. All three forms resulted in truncated proteins. c.351+1del in SSR4 gene causes congenital disorder of glycosylation, type Iy, consisted with the proband's phenotype. Up to date, all of the pathogenic SSR4 gene variants were null variants. The most variants were reported in exon 4. Patients (within or between families) carrying the same variants exhibited phenotypic heterogeneity.ConclusionThe current study expanded the pathogenic variant spectrum of SSR4 gene and revealed the impact of c.351+1del on SSR4 splicing. Standardizing the transcript and naming conventions of variants were crucial for the study of SSR4 genotypes and phenotypes

    Compact 3D-MEMS-meander rnonopole antenna 

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    [[abstract]]A MEMS meander monopole antenna is fabricated in the form of a folded microstrip on the upper and bottom surfaces of the substrate. This design is based on the meander line principle with a three-dimensional structure to achieve reduced size compared to many other small size printed antennas. The MEMS technologies, such as excimer laser drilling and copper electroplating were used in the fabrication of this antenna. This antenna can be mounted on the silicon wafer by anodic bonding technology. The design features 2.45 GHz operating frequency with 190 MHz bandwidth for WLAN applications. The geometric length of the antenna is 21 mm, and the width is 4 mm. Measured results have good agreement with simulation data.[[note]]SC

    2.4 and 5.2 GHz dual-band antenna fabricated on flexible parylene membrane 

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    [[abstract]]A 2.4 and 5.2 GHz dual-band monopole antenna fabricated on a flexible parylene membrane for Bluetooth and wireless local area network (WLAN) modules was designed and fabricated. The measured results show a good antenna performance and agree very well with the design simulations in both return loss and radiation characteristics. Parylene is a flexible polymer film; it can be deposited on various substrates and peeled off after completing device processes as stand-alone thin-and-flexible-substrate-containing devices. Owing to its excellent physical and chemical properties such as its low dielectric constant, light weight, low conductivity, and inertness to chemicals, parylene is also suitable for fabrication of many other RF devices.[[note]]SC

    The receptions of literary disputes against heretics in Josephite literacy (based on «The Word about the Incarnation» by Daniel Metropolitan)

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    The article investigates the literary controversy in the Russian Church in the fi rst half of the XVI century. Author conducted a literary and textual analysis of one of the largest polemical writings of Metropolitan Daniel of Moscow — «The word of the Incarnation of our Lord Jesus Christ.» This work was part of the composition «Sobornik slov» of Metropolitan Daniel, however, was never published and attracted the attention of researchers. At the same time it is the only writing in ancient russian literacy, where polemics with «netlennomnimaya» heresy, in which during the council in 1531, Daniel has accused the prince-monk Vassian (Patrikeev). The author established the county direct textual relationship «Sudnoe delo» of Vassian from «the Incarnation of the Word.» In addition, based on the study of ancient lists of «Words» author identifi ed the major literary devices and methods of Josephite polemicists school in the beginning of XVI century. «The word of the Incarnation» and many other works of Metropolitan Daniel examined in the paper as complex literary works, where identifies several levels of meaning. Analysis of a compilation of the «Word» has allowed the author to identify the strict sequence of citing biblical and patristic texts, and to identify the logic of argument advocated by Metropolitan Daniel. In this regard, the author attempts to refute the preconceived idea that the scribes Josephite schools were compilers, and destitute of original art. The author came to conclusion that existing in the national historiography technique of studying polemical writings of Russian medieval writers is in need of major changes

    Telaah Kritis terhadap al-Risalah:‎ Karya Magnum Opus ‎ Usul Fikih Imam al-Shafi’iy

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    Abstract: This paper specifically investigates conceptual contribution of al-Shafi'iy -as contained in his al-Risalah- to the model or system of formation of Islamic law relating to grounding normative basis in his concep of Islamic law, that there are five: al-Qur'an, Sunnah, ijma', qiyas, and aqawil al-sahabah. In the method of the law-making, Kitab al-Risalah was referring to the structure of the legal hierarchy. In a hierarchical structure of this law starts from the highest and most early as the first reference, then decreased to below. Recognized or not, through this work began systematically structured models of istinbat in Islamic law. Also through this work also, al-Sha fi'iy recognized had been instrumental in laying the foundations of istinbat in Islamic law which further systematically arranged a new nomenclature called the science of usul fiqh. In the contemporary era, Nasr Hamid Abu Zayd tried to do a critical reading by stating that the thought of al-Shafi'iy is flavorful the Arab centric, which leads to sectarianism. However, according to the author, these accusations are not sufficient in alibi to shift the great merit of al-Shafi'iy in pioneering the idea to systematize the disciplines of usul fiqh. Abstrak: Tulisan ini secara khusus menyorot sumbangan pemikiran al-Shafi’iy—seperti yang tertuang dalam karyanya al-Risalah—terhadap model atau sistem pembentukan hukum Islam yang terkait dengan landasan normatif yang dijadikan pegangan dalam memunculkan pemikiran fikihnya, yaitu ada lima: al-Qur’an, Sunnah,  Ijma’, Qiyas, dan Aqawil al-Sahabah. Adapun dalam metode menetapkan hukum, kitab al-Risalah mengacu pada struktur hierarki hukum. Dalam struktur hierarki hukum ini dimulai dari yang paling tinggi dan yang paling awal sebagai acuan pertama, selanjutnya mengacu dengan menurun ke bawahnya. Diakui atau tidak, melalui karyanya ini mulai tersusun rapi model-model istinbat hukum Islam. Juga melalui karyanya ini pula, al-Shafi’iy ditahbiskan telah berjasa dalam meletakkan dasar-dasar istinbat hukum Islam yang selanjutnya tersusunlah secara sistematis sebuah nomenklatur baru yang bernama ilmu usul fikih. Pada era kekinian, Nasr Hamid Abu Zayd mencoba melakukan pembacaan kritis dengan menyatakan pemikiran al-Shafi’iy beraroma Arab sentris yang mengarah pada label sektarianisme. Namun demikian tuduhan ini, menurut hemat penulis, tidak cukup alibi untuk menggeser jasa besar al-Shafi’iy dalam merintis gagasan mensistematisasi disiplin ilmu usul fikih

    Improving route discovery in on-demand routing protocols using local topology information in MANETs

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    Most existing routing protocols proposed for MANETs use flooding as a broadcast technique for the propagation of network control packets; a particular example of this is the dissemination of route requests (RREQs), which facilitate route discovery. In flooding, each mobile node rebroadcasts received packets, which, in this manner, are propagated network-wide with considerable overhead. This paper improves on the performance of existing routing protocols by reducing the communication overhead incurred during the route discovery process by implementing a new broadcast algorithm called the adjusted probabilistic flooding on the Ad-Hoc on Demand Distance Vector (AODV) protocol. AODV [3] is a well-known and widely studied algorithm which has been shown over the past few years to maintain an overall lower routing overhead compared to traditional proactive schemes, even though it uses flooding to propagate RREQs. Our results, as presented in this paper, reveal that equipping AODV with fixed and adjusted probabilistic flooding, instead, helps reduce the overhead of the route discovery process whilst maintaining comparable performance levels in terms of saved rebroadcasts and reachability as achieved by conventional AODV\@. Moreover, the results indicate that the adjusted probabilistic technique results in better performance compared to the fixed one for both of these metrics

    An experimental study on crossing nose damage of railway turnouts in The Netherlands

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    geen isbn, paper 37OLD Road and Railway Engineerin
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