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Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis
Braun, Daniela Anne,Lawson, Jennifer Ashley,Gee, Heon Yung,Halbritter, Jan,Shril, Shirlee,Tan, Weizhen,Stein, Deborah,Wassner, Ari J.,Ferguson, Michael A.,Gucev, Zoran,Fisher, Brittany,Spaneas, Leslie American Society of Nephrology 2016 CLINICAL JOURNAL- AMERICAN SOCIETY OF NEPHROLOGY Vol.11 No.4
<P>Background and objectives Nephrolithiasis is a prevalent condition that affects 10%-15% of adults in their lifetime. It is associated with high morbidity due to colicky pain, the necessity for surgical intervention, and sometimes progression to CKD. In recent years, multiple monogenic causes of nephrolithiasis and nephrocalcinosis have been identified. However, the prevalence of each monogenic gene in a pediatric renal stone cohort has not yet been extensively studied. Design, setting, participants, & measurements To determine the percentage of cases that can be explained molecularly by mutations in one of 30 known nephrolithiasis/nephrocalcinosis genes, we conducted a high-throughput exon sequencing analysis in an international cohort of 143 individuals <18 years of age, with nephrolithiasis (n=123) or isolated nephrocalcinosis (n=20). Over 7 months, all eligible individuals at three renal stone clinics in the United States and Europe were approached for study participation. Results We detected likely causative mutations in 14 of 30 analyzed genes, leading to a molecular diagnosis in 16.8% (24 of 143) of affected individuals; 12 of the 27 detected mutations were not previously described as disease causing (44.4%). We observed that in our cohort all individuals with infantile manifestation of nephrolithiasis or nephrocalcinosis had causative mutations in recessive rather than dominant monogenic genes. In individuals who manifested later in life, causative mutations in dominant genes were more frequent. Conclusions We present the first exclusively pediatric cohort examined for monogenic causes of nephrolithiasis/nephrocalcinosis, and suggest that important therapeutic and preventative measures may result from mutational analysis in individuals with early manifestation of nephrolithiasis or nephrocalcinosis.</P>
BRAUN J. E.,KEEIN S. A.,MITCHELL J. W. 대한설비공학회 1983 설비저널 Vol.12 No.2
논문은 물을 저장물질로 사용하는 공간난방에 있어서의 seasonal storage의 몇 가지 중요한 문제연구하고 있다. 집열기 면적과 저장체적 그리고 시스템 성능간의 관계를 transient simulation program(TRNSYS)을 사용하여 조사하였다. 여기서 seasonal storage의 가장 일어나기 쉬운 상태가 나타내어지는데 seasonal storage system의 설계에 특히 역점을 두고 있다. 이러한 설계방법은 몇 일간에서 seasonal storage에 이르는 seasonal pacity (저장용량)에 대하여 적용되어진다. 비용과 관련하여 이러한 설계방법은 seasonal storage system 경제성 (economic viability)을 추정하는데 유용할 것이다. 또한 시스템 설계에서 부하 열기의 크기 탱크단열 집열기 경사 매년 기후변화의 중요성이 조사되고 있다.
Braun, Artur,Aksoy Akgul, Funda,Chen, Qianli,Erat, Selma,Huang, Tzu-Wen,Jabeen, Naila,Liu, Zhi,Mun, Bongjin S.,Mao, Samuel S.,Zhang, Xiaojun American Chemical Society 2012 Chemistry of materials Vol.24 No.17
<P>Substoichiometric tungsten oxide films of approximately 10 nm thickness deposited with pulsed laser ablation on single-crystal TiO<SUB>2</SUB> substrates with (001) and (110) orientation show defect states near the Fermi energy in the valence-band X-ray photoelectron spectroscopy (XPS) spectra. The spectral weight of the defect states is particularly strong for the film grown on the (001) surface. In situ XPS under an oxygen pressure of 100 mTorr shows that the spectral weight of the defect states decreases significantly at 500 K for the film on the (110) substrate, whereas that of the film grown on the (001) substrate remains the same at a temperature up to 673 K. Furthermore, diffusion of titanium from the substrate to the film surface is observed on the (110) substrate, as is evidenced by the sudden appearance of the Ti 2p core level signature above 623 K and below 673 K. The film grown on the (001) surface does not show such an interdiffusion effect, which suggests that the orientation of the substrate can have a significant influence on the high-temperature integrity of the tungsten oxide films. Quantitative analysis of the O 1s core level XPS spectra shows that chemisorbed water from sample storage under ambient conditions is desorbed during heating under oxygen exposure.</P><P><B>Graphic Abstract</B> <IMG SRC='http://pubs.acs.org/appl/literatum/publisher/achs/journals/content/cmatex/2012/cmatex.2012.24.issue-17/cm301829y/production/images/medium/cm-2012-01829y_0011.gif'></P><P><A href='http://pubs.acs.org/doi/suppl/10.1021/cm301829y'>ACS Electronic Supporting Info</A></P>
CONSIDERATIONS REGARDING ROK SPENT NUCLEAR FUEL MANAGEMENT OPTIONS
Braun, Chaim,Forrest, Robert Korean Nuclear Society 2013 Nuclear Engineering and Technology Vol.45 No.4
In this paper we discuss spent fuel management options in the Republic of Korea (ROK) from two interrelated perspectives: Centralized dry cask storage and spent fuel pyroprocessing and burning in sodium fast reactors (SFRs). We argue that the ROK will run out of space for at-reactors spent fuel storage by about the year 2030 and will thus need to transition centralized dry cask storage. Pyroprocessing plant capacity, even if approved and successfully licensed and constructed by that time, will not suffice to handle all the spent fuel discharged annually. Hence centralized dry cask storage will be required even if the pyroprocessing option is successfully developed by 2030. Pyroprocessing is but an enabling technology on the path leading to fissile material recycling and burning in future SFRs. In this regard we discuss two SFR options under development in the U.S.: the Super Prism and the Travelling Wave Reactor (TWR). We note that the U.S. is further along in reactor development than the ROK. The ROK though has acquired more experience, recently in investigating fuel recycling options for SFRs. We thus call for two complementary joint R&D project to be conducted by U.S. and ROK scientists. One leading to the development of a demonstration centralized away-fromreactors spent fuel storage facility. The other involve further R&D on a combined SFR-fuel cycle complex based on the reactor and fuel cycle options discussed in the paper.
The E-Factor : Advancing Women Entrepreneurs in the Digital Economy
Braun, Patrice Asian pacific women's information network center 2006 APWIN Vol.8 No.-
ICT now allows entrepreneurs who were previously excluded, to participate in the digital economy. Yet SME owners, particularly women, are slightly reluctant to invest the necessary time and money into the digital economy. Although SME owners do using the Internet and other technological means, they often use them for non-business purposes. Entering the digital economy is viewed as a risky investment and is an area in which they feel they lack the necessary skills and knowledge to successfully participate in. However, it is argued that with some time and guidance, the necessary skills and knowledge can incrementally be taught to these entrepreneurs. It is also argued that public policy must recognize the ability ICT has to strengthen SMEs. In doing so, governments, NGOs, lOs and SME entrepreneurs can collaboratively strengthen the digital economy.
Braun, C.,Proch, S.,Seo, H.O.,Kim, Y.D.,Gantefor, G. North Holland ; Elsevier Science Ltd 2012 Chemical physics letters Vol.530 No.-
Relaxation dynamics of optically excited states of Au<SUB>3</SUB><SUP>-</SUP> and Au<SUB>3</SUB><SUP>-</SUP>(H<SUB>2</SUB>O)<SUB>m</SUB> were studied via femtosecond time-resolved photoelectron spectroscopy (fsTRPES). Au<SUB>3</SUB><SUP>-</SUP> exhibits photo-dissociation into either (Au<SUB>2</SUB><SUP>-</SUP>+Au<SUB>1</SUB>) or (Au<SUB>2</SUB>+Au<SUB>1</SUB><SUP>-</SUP>) with a time constant of 1.6ns. One water molecule adsorbed on Au<SUB>3</SUB><SUP>-</SUP> opened new photo-induced dissociation channel with a much shorter time constant. More than one water molecule on Au<SUB>3</SUB><SUP>-</SUP> inhibited photo-dissociation, most likely as a result of facile dissipation of excess energy of optically excited states by nuclear motions of clusters. The photochemical pathway can be controlled by adjusting the number of water molecules interacting with the ionic species.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Braun, Daniela A,Rao, Jia,Mollet, Geraldine,Schapiro, David,Daugeron, Marie-Claire,Tan, Weizhen,Gribouval, Olivier,Boyer, Olivia,Revy, Patrick,Jobst-Schwan, Tilman,Schmidt, Johanna Magdalena,Lawson, J Nature Pub. Co 2017 Nature genetics Vol.49 No.10
<P>Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue. Furthermore, knockdown of these genes impaired protein translation, caused endoplasmic reticulum stress, activated DNA-damage-response signaling, and ultimately induced apoptosis. Knockdown of OSGEP or TP53RK induced defects in the actin cytoskeleton and decreased the migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identified four new monogenic causes of GAMOS, describe a link between KEOPS function and human disease, and delineate potential pathogenic mechanisms.</P>