3,721 research outputs found
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene
Background: Golabi, Ito, and Hall reported a family with X linked mental retardation (XLMR), microcephaly, postnatal growth deficiency, and other anomalies, including atrial septal defect, in 1984.Methods: This family was restudied as part of our ongoing study of XLMR, but significant linkage to X chromosome markers could not be found. Extreme short stature and microcephaly as well as other new clinical findings were observed. Mutations in the polyglutamine tract binding protein 1 gene (PQBP1) have recently been reported in four XLMR disorders (Renpenning, Hamel cerebro-palato-cardiac, Sutherland-Haan, and Porteous syndromes) as well as in several other families. The clinical similarity of our family to these patients with mutations in PQBP1, particularly the presence of microcephaly, short stature, and atrial septal defect, prompted examination of this gene.Results: A missense mutation in PQBP1 was identified which changed the conserved tyrosine residue in the WW domain at position 65 to a cysteine (p.Y65C).Conclusions: This is the first missense mutation identified in PQBP1 and the first mutation in the WW domain of the gene. The WW domain has been shown to play an important role in the regulation of transcription by interacting with the PPxY motif found in transcription factors. The p.Y65C mutation may affect the proper functioning of the PQBP1 protein as a transcriptional co-activator
The anti-biofilm activity of essential oils against Listeria monocytogenes and Salmonella Enteritidis
[SPA] La presencia de biofilms es habitual en la industria alimentaria. Los biofilms pueden presentarse en todo tipo de superficies de las plantas de procesado de alimentos, desde plásticos, vidrio, metal o madera, hasta los propios alimentos. La fijación de las bacterias a los alimentos o a las superficies conduce a serios problemas higiénicos y pérdidas económicas debidas a la alteración de alimentos. Además, los biofilms persisten en las superficies en contacto con los alimentos. Por estas razones, se considera que la presencia de biofilms en los sistemas alimentarios constituye un riesgo grave para la salud pública. El uso de productos químicos no está recomendado ya que las bacterias pueden desarrollar resistencia a los mismos, que puede llevar a un aumento significativo del número de cepas microbianas con resistencia adquirida. Así pues, resulta conveniente investigar el uso de productos naturales(aceites esenciales), conocidos por su actividad antimicrobiana, para el control de los biofilms causados por microorganismos patógenos.
[ENG] The presence of biofilms is common in food industry. Biofilms can exist on all types of surfaces in food plants ranging from plastic, glass, metal, wood, to food products. The attachment of the bacteria to the food product or the product contact surfaces leads to serious hygienic problems and economic losses due to food spoilage. In addition to that, biofilms persist on food contact surfaces. For these reasons, it is considered that the presence of biofilms in the food systems is a serious public health risk. Chemical products are not recommended because the bacteria can acquire resistance, which lead to a significant increase in the number of microbial strains becoming resistant. Therefore, it is important to investigate the use of natural products (essential oils), known for their antimicrobial activity, in order to control biofilm development by foodborne pathogens.This research will be financially supported, initially, by the Ministry of Economy and Competitiveness of the Spanish Government and European Regional Development Fund (ERDF) through project AGL2013-48993-C2-1-R
Hubungan Regulasi diri dengan Prokrastinasi Akademik Mahasiswa Magister yang bekerja pada Perguruan Tinggi Surabaya
Penelitian meta-analisis oleh Steel (2007) di Universitas Calgary bahwa 80% hingga 95% mahasiswa melakukan prokrastinasi, terutama saat melakukan tugas kuliah. Pada penelitian Klassen, Krawchuk dan Rajani (2008) di universitas Kanada juga menghasilkan data bahwa prokrastinasi pada siswa terkait dengan tingkat regulasi diri yang lebih rendah.Dalam penelitian ini, ditemukan bahwa siswa dengan kemampuan untuk mengatur diri yang rendah memiliki IPK yang lebih rendah,dan lebih banyak menunda..Tujuan penelitian ini untuk mengetahui mengenai hubungan prokrastinasi akademik dengan regulasi diri mahasiswa. metode penelitian kuantitatif.Penelitian ini merupakan penelitian kuantitatif dengan menggunakan metode survey. Hasil yang didapatkan menunjukkan nilai signifikansi 0,000 (p<0,05).Hasil tersebut menunjukkan adanya korelasi negatif antara prokrastinasi akademik dengan regulasi diri dan menunjukkan hubungan yang signifikan.Sehingga ada hubungan yang signifikan prokrastinasi akademik dengan regulasi diri mahasiswa magister yang bekerja.
 
The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population
Simian Virus 40 Large T Antigen as a Model to Test the Efficacy of Flouroquinolones against Viral Helicases
Simian virus 40 large T-antigen (SV40 LT-Ag) is a 708 amino acid nuclear phosphoprotein. Among many functions of LT-Ag is its ability to perform as an ATPase-helicase, catalyzing the unwinding of viral genome during replication. The LT-Ag has been employed in the studies of helicase structure and function, and has served as a model helicase for the screening of antiviral drugs that target viral helicase. In this study, using in vitro enzyme assays and in silico computer modeling, we screened a batch of 18 fluoroquinolones to assess their potential as antivirals by virtue of their inhibition of the LT-Ag helicase. We found all fluoroquinolones to be inhibitory to the helicase activity of LT-Ag. In our docking analysis, most of these tested drugs showed similarity in their interactions with LT-Ag. Our study shows the potential of fluoroquinolones as antiviral drugs and of SV40 LT-Ag as a model protein for screening drugs against viral helicases
Blue light effects on rose photosynthesis and photomorphogenesis
Through its impact on photosynthesis and morphogenesis, light is the environmental factor that most affects plant architecture. Using light rather than chemicals to manage plant architecture could reduce the impact on the environment. However, the understanding of how light modulates plant architecture is still poor and further research is needed. To address this question, we examined the development of two rose cultivars, Rosa hybrida‘Radrazz’ and Rosa chinensis‘Old Blush’, cultivated under two light qualities. Plants were grown from one-node cuttings for 6 weeks under white or blue light at equal photosynthetic efficiencies. While plant development was totally inhibited in darkness, blue light could sustain full development from bud burst until flowering. Blue light reduced the net CO2 assimilation rate of fully expanded leaves in both cultivars, despite increasing stomatal conductance and intercellular CO2 concentrations. In ‘Radrazz’, the reduction in CO2 assimilation under blue light was related to a decrease in photosynthetic pigment content, while in both cultivars, the chl a/b ratio increased. Surprisingly, blue light could induce the same organogenetic activity of the shoot apical meristem, growth of the metamers and flower development as white light. The normal development of rose plants under blue light reveals the strong adaptive properties of rose plants to their light environment. It also indicates that photomorphogenetic processes can all be triggered by blue wavelengths and that despite a lower assimilation rate, blue light can provide sufficient energy via photosynthesis to sustain normal growth and development in roses
Extractive Text-Based Summarization of Arabic videos: Issues, Approaches and Evaluations
International audienceIn this paper, we present and evaluate a method for extractive text-based summarization of Arabic videos. The algorithm is proposed in the scope of the AMIS project that aims at helping a user to understand videos given in a foreign language (Arabic). For that, the project proposes several strategies to translate and summarize the videos. One of them consists in transcribing the Ara-bic videos, summarizing the transcriptions, and translating the summary. In this paper we describe the video corpus that was collected from YouTube and present and evaluate the transcription-summarization part of this strategy. Moreover, we present the Automatic Speech Recognition (ASR) system used to transcribe the videos, and show how we adapted this system to the Algerian dialect. Then, we describe how we automatically segment into sentences the sequence of words provided by the ASR system, and how we summarize the obtained sequence of sentences. We evaluate objectively and subjectively our approach. Results show that the ASR system performs well in terms of Word Error Rate on MSA, but needs to be adapted for dealing with Algerian dialect data. The subjective evaluation shows the same behaviour than ASR: transcriptions for videos containing dialectal data were better scored than videos containing only MSA data. However, summaries based on transcriptions are not as well rated, even when transcriptions are better rated. Last, the study shows that features, such as the lengths of transcriptions and summaries, and the subjective score of transcriptions, explain only 31% of the subjective score of summaries
Existence of global strong solutions in critical spaces for barotropic viscous fluids
This paper is dedicated to the study of viscous compressible barotropic
fluids in dimension . We address the question of the global existence
of strong solutions for initial data close from a constant state having
critical Besov regularity. In a first time, this article show the recent
results of \cite{CD} and \cite{CMZ} with a new proof. Our result relies on a
new a priori estimate for the velocity, where we introduce a new structure to
\textit{kill} the coupling between the density and the velocity as in
\cite{H2}. We study so a new variable that we call effective velocity. In a
second time we improve the results of \cite{CD} and \cite{CMZ} by adding some
regularity on the initial data in particular is in . In this
case we obtain global strong solutions for a class of large initial data on the
density and the velocity which in particular improve the results of D. Hoff in
\cite{5H4}. We conclude by generalizing these results for general viscosity
coefficients
Locked nailing for the treatment of displaced articular fractures of the calcaneus: description of a new procedure with calcanail®
Although open reduction and internal fixation is considered the best method for treating displaced articular fractures of the calcaneus, lateral approach is at high risk for wound healing complications. For this reason, the authors developed a posterior approach and a new implant to perform both intrafocal reduction and internal fixation. The aim of this technical note is to describe this method of treatment for displaced articular fractures of the calcaneus, which offered the following advantages: (a) the creation of a working channel that provides also a significant bone autograft, (b) the intrafocal reduction of the displaced articular surface, (c) the insertion of a locking nail that maintains the reduced articular surface at the right height, (d) the possibility to switch from an ORIF to a reconstruction arthrodesis with the same approach and instrumentation in case of severely damaged posterior facet
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