The metabolism of Tay-Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay-Sachs brain tissue

Science.gov (United States)

Tallman, John F.; Johnson, William G.; Brady, Roscoe O.

1972-01-01

The catabolism of Tay-Sachs ganglioside, N-acetylgalactosaminyl- (N-acetylneuraminosyl) -galactosylglucosylceramide, has been studied in lysosomal preparations from normal human brain and brain obtained at biopsy from Tay-Sachs patients. Utilizing Tay-Sachs ganglioside labeled with 14C in the N-acetylgalactosaminyl portion or 3H in the N-acetylneuraminosyl portion, the catabolism of Tay-Sachs ganglioside may be initiated by either the removal of the molecule of N-acetylgalactosamine or N-acetylneuraminic acid. The activity of the N-acetylgalactosamine-cleaving enzyme (hexosaminidase) is drastically diminished in such preparations from Tay-Sachs brain whereas the activity of the N-acetylneuraminic acid-cleaving enzyme (neuraminidase) is at a normal level. Total hexosaminidase activity as measured with an artificial fluorogenic substrate is increased in tissues obtained from patients with the B variant form of Tay-Sachs disease and it is virtually absent in the O-variant patients. The addition of purified neuraminidase and various purified hexosaminidases exerted only a minimal synergistic effect on the hydrolysis of Tay-Sachs ganglioside in the lysosomal preparations from the control or patient with the O variant of Tay-Sachs disease. Images PMID:4639018

Energy in the Kantowski–Sachs space-time using teleparallel ...

Indian Academy of Sciences (India)

Inflation is again considered to be one of the early phases of the Universe [10]. For testing gravitational energy–momentum tensor of the teleparallel theory in quasilocal approach and also in the. Hamiltonian structure of TEGR, it is intended to calculate the total energy of inflationary. Kantowski–Sachs-type Universe. Again ...

Basic versus applied research: Julius Sachs (1832-1897) and the experimental physiology of plants.

Science.gov (United States)

Kutschera, Ulrich

2015-01-01

The German biologist Julius Sachs was the first to introduce controlled, accurate, quantitative experimentation into the botanical sciences, and is regarded as the founder of modern plant physiology. His seminal monograph Experimental-Physiologie der Pflanzen (Experimental Physiology of Plants) was published 150 y ago (1865), when Sachs was employed as a lecturer at the Agricultural Academy in Poppelsdorf/Bonn (now part of the University). This book marks the beginning of a new era of basic and applied plant science. In this contribution, I summarize the achievements of Sachs and outline his lasting legacy. In addition, I show that Sachs was one of the first biologists who integrated bacteria, which he considered to be descendants of fungi, into the botanical sciences and discussed their interaction with land plants (degradation of wood etc.). This "plant-microbe-view" of green organisms was extended and elaborated by the laboratory botanist Wilhelm Pfeffer (1845-1920), so that the term "Sachs-Pfeffer-Principle of Experimental Plant Research" appears to be appropriate to characterize this novel way of performing scientific studies on green, photoautotrophic organisms (embryophytes, algae, cyanobacteria).

Ethical Issues with Genetic Testing for Tay-Sachs.

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Clayton, Tricia

Several genetic disorders are specific to Jewish heritage; one of the most devastating is Tay-Sachs disease.Tay-Sachs is a fatal hereditary disease, causing progressive neurological problems for which there is no cure. Ethical issues surrounding genetic testing for Tay-Sachs within the Jewish community continue to be complex and multifaceted. A perspective of Tay-Sachs, using rights-based ethics and virtue ethics as a theoretical framework, is explored.

Prenatal Diagnosis Of Tay-Sachs Disease

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Özgür Özyüncü

2010-04-01

CONCLUSION: Tay-Sachs disease can be diagnosed prenatally by measuring hexosaminidase enzyme activity in fetal tissue samples with an acceptable complication rate. Prenatal diagnosis should be offered to families who have affected siblings with Tay-Sachs disease.

Noncommutative black holes

Energy Technology Data Exchange (ETDEWEB)

Lopez-DomInguez, J C [Instituto de Fisica de la Universidad de Guanajuato PO Box E-143, 37150 Leoen Gto. (Mexico); Obregon, O [Instituto de Fisica de la Universidad de Guanajuato PO Box E-143, 37150 Leoen Gto. (Mexico); RamIrez, C [Facultad de Ciencias FIsico Matematicas, Universidad Autonoma de Puebla, PO Box 1364, 72000 Puebla (Mexico); Sabido, M [Instituto de Fisica de la Universidad de Guanajuato PO Box E-143, 37150 Leoen Gto. (Mexico)

2007-11-15

We study noncommutative black holes, by using a diffeomorphism between the Schwarzschild black hole and the Kantowski-Sachs cosmological model, which is generalized to noncommutative minisuperspace. Through the use of the Feynman-Hibbs procedure we are able to study the thermodynamics of the black hole, in particular, we calculate Hawking's temperature and entropy for the 'noncommutative' Schwarzschild black hole.

Master of the master gland: Choh Hao Li, the University of California, and science, migration, and race.

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Zulueta, Benjamin C

2009-01-01

This essay examines the origins of the relationship between Choh Hao Li and the University of California, Berkeley. Li came to the United States from China in 1935 for graduate study at the University of Michigan, but ended up enrolling at Berkeley. Over the course of the next two decades, Li went from being a foreign graduate student in chemistry on a temporary visa to an internationally recognized leader in the biochemistry of endocrinology at the head of his own laboratory and a naturalized citizen of the United States. At what was otherwise a dark time for Americans of Chinese descent, Li was garnering adulation in the popular press. He was called the "master of the master gland" for his successes both in isolating and in synthesizing pituitary hormones. Specifically, the essay explores the making of the "master of the master gland" from the perspectives of the history of science and the history of race and migration in the United States, tracing the interplay among Li's scientific work, his migrations, his career aspirations, and his legal status in the United States. A Chinese intellectual cast adrift by the shifting geopolitics of World War II and the early Cold War, Li danced delicately along the margins of membership in American society during the 1940s, only arriving at what turned out to be his final destination after careful and protracted negotiations with officials of the U.S. government, with influential members of the international scientific community, and with representatives of the University of California, Berkeley.

Combinative effects of Thanh Hao Miet Giap Thang ...

African Journals Online (AJOL)

Background: Traditional formulae usually exhibit therapeutic effects through the combinations of different ingredients. The purpose of this study was to investigate in vitro anti-oxidative activity of Thanh Hao Miet Giap Thang (THMGT) (Sweet Wormwood and Tortoise Shell Decoction) formula and the interactions of its ...

Self-similar cosmological solutions with dark energy. I. Formulation and asymptotic analysis

International Nuclear Information System (INIS)

Harada, Tomohiro; Maeda, Hideki; Carr, B. J.

2008-01-01

Based on the asymptotic analysis of ordinary differential equations, we classify all spherically symmetric self-similar solutions to the Einstein equations which are asymptotically Friedmann at large distances and contain a perfect fluid with equation of state p=(γ-1)μ with 0 1). However, in the latter case there is an additional parameter associated with the weak discontinuity at the sonic point and the solutions are only asymptotically 'quasi-Friedmann', in the sense that they exhibit an angle deficit at large distances. In the 0<γ<2/3 case, there is no sonic point and there exists a one-parameter family of solutions which are genuinely asymptotically Friedmann at large distances. We find eight classes of asymptotic behavior: Friedmann or quasi-Friedmann or quasistatic or constant-velocity at large distances, quasi-Friedmann or positive-mass singular or negative-mass singular at small distances, and quasi-Kantowski-Sachs at intermediate distances. The self-similar asymptotically quasistatic and quasi-Kantowski-Sachs solutions are analytically extendible and of great cosmological interest. We also investigate their conformal diagrams. The results of the present analysis are utilized in an accompanying paper to obtain and physically interpret numerical solutions

Midisuperspace-induced corrections to the Wheeler De Witt equation

International Nuclear Information System (INIS)

Mazzitelli, F.D.

1992-04-01

We consider the midisuperspace of four dimensional spherically symmetric metrics and the Kantowski-Sachs minisuperspace contained in it. We discuss the quantization of the midisuperspace using the fact that the dimensionally reduced Einstein Hilbert action becomes a scalar-tensor theory of gravity in two dimensions. We show that the covariant regularization procedure in the midisuperspace induces modifications into the minisuperspace Wheeler De Witt equation. (author). 8 refs

Structural consequences of amino acid substitutions causing Tay-Sachs disease.

Science.gov (United States)

Ohno, Kazuki; Saito, Seiji; Sugawara, Kanako; Sakuraba, Hitoshi

2008-08-01

To determine the structural changes in the alpha-subunit of beta-hexosaminidase due to amino acid substitutions causing Tay-Sachs disease, we built structural models of mutant alpha-subunits resulting from 33 missense mutations (24 infantile and 9 late-onset), and analyzed the influence of each amino acid replacement on the structure by calculating the number of atoms affected and determining the solvent-accessible surface area of the corresponding amino acid residue in the wild-type alpha-subunit. In the infantile Tay-Sachs group, the number of atoms influenced by a mutation was generally larger than that in the late-onset Tay-Sachs group in both the main chain and the side chain, and residues associated with the mutations found in the infantile Tay-Sachs group tended to be less solvent-accessible than those in the late-onset Tay-Sachs group. Furthermore, color imaging determined the distribution and degree of the structural changes caused by representative amino acid substitutions, and that there were also differences between the infantile and late-onset Tay-Sachs disease groups. Structural study is useful for elucidating the basis of Tay-Sachs disease.

Three-dimensional computed tomography measurement accuracy of varying Hill-Sachs lesion size.

Science.gov (United States)

Ho, Anthony; Kurdziel, Michael D; Koueiter, Denise M; Wiater, J Michael

2018-02-01

The glenoid track concept has been proposed to correlate shoulder stability with bone loss. Accurate assessment of Hill-Sachs lesion size preoperatively may affect surgical planning and postoperative outcomes; however, no measurement method has been universally accepted. This study aimed to assess the accuracy and reliability of measuring Hill-Sachs lesion sizes using 3-dimensional (3D) computed tomography (CT). Nine polyurethane humerus bone substitutes were used to create Hill-Sachs lesions of varying sizes with a combination of lesion depth (shallow, intermediate, and deep) and width (small, medium, and large). Specimens were scanned with a clinical CT scanner for size measurements and a micro-CT scanner for measurement of true lesion size. Six evaluators repeated measurements twice in a 2-week interval. Scans were measured by use of 3D CT reconstructions for length, width, and Hill-Sachs interval and with use of 2D CT for depth. The interclass correlation coefficient evaluated interobserver and intraobserver variability and percentage error, and Student t-tests assessed measurement accuracy. Interclass correlation coefficient reliability demonstrated strong agreement for all variables measured (0.856-0.975). Percentage error between measured length and measured depth and the true measurement significantly varied with respect to both lesion depth (P = .003 and P = .005, respectively) and lesion size (P = .049 and P = .004, respectively). The 3D CT imaging is effective and reproducible in determining lesion size. Determination of Hill-Sachs interval width is also reliable when it is applied to the glenoid track concept. Measured values on 3D and 2-dimensional imaging using a conventional CT scanner may slightly underestimate true measurements. Copyright © 2017 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Elsevier Inc. All rights reserved.

An inducible mouse model of late onset Tay-Sachs disease.

Science.gov (United States)

Jeyakumar, Mylvaganam; Smith, David; Eliott-Smith, Elena; Cortina-Borja, Mario; Reinkensmeier, Gabriele; Butters, Terry D; Lemm, Thorsten; Sandhoff, Konrad; Perry, V Hugh; Dwek, Raymond A; Platt, Frances M

2002-08-01

Mouse models of the G(M2) gangliosidoses, Tay-Sachs and Sandhoff disease, are null for the hexosaminidase alpha and beta subunits respectively. The Sandhoff (Hexb-/-) mouse has severe neurological disease and mimics the human infantile onset variant. However, the Tay-Sachs (Hexa-/-) mouse model lacks an overt phenotype as mice can partially bypass the blocked catabolic pathway and escape disease. We have investigated whether a subset of Tay-Sachs mice develop late onset disease. We have found that approximately 65% of the mice develop one or more clinical signs of the disease within their natural life span (n = 52, P disease at an earlier age (n = 21, P Tay-Sachs mice confirmed that pregnancy induces late onset Tay-Sachs disease. Onset of symptoms correlated with reduced up-regulation of hexosaminidase B, a component of the bypass pathway.

The National Tay Sachs and Allied Diseases Association.

Science.gov (United States)

Zeitlin, Paula

1986-01-01

The National Tay-Sachs and Allied Diseases Association is involved in education, research, and prevention of Tay-Sachs, an inherited metabolic disorder which destroys the central nervous system, and over 30 related disorders. The group features a parent peer group network and a support group for carrier couples. (CL)

National Tay-Sachs and Allied Diseases Association, Inc.

Science.gov (United States)

Exceptional Parent, 1977

1977-01-01

Reviewed are the history and organization, purpose and programs, and public services of the National Tay-Sachs and Allied Diseases Association, an organization geared toward eradicating Tay-Sachs disease (a hereditary disorder affecting primarily Jewish infants which generally leads to deterioration and death by the child's fifth year). (SBH)

Tay-Sachs disease: current perspectives from Australia

Directory of Open Access Journals (Sweden)

Lew RM

2015-01-01

Full Text Available Raelia M Lew,1,7 Leslie Burnett,2,3,4 Anné L Proos,2 Martin B Delatycki5,6 1Department of Obstetrics and Gynecology, QEII Research Institute for Mothers and Infants, The University of Sydney, Australia; 2NSW Health Pathology North, Royal North Shore Hospital, St Leonards, Australia; 3SEALS, Prince of Wales Hospital, Randwick, Australia; 4Sydney Medical School-Northern, Royal North Shore Hospital E25, University of Sydney, Sydney, Australia; 5Department of Clinical Genetics, Austin Health, Heidelberg, Australia; 6Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Australia; 7Department of Obstetrics and Gynaecology, Dentistry and Health Sciences, Faculty of Medicine, The University of Melbourne, Melbourne, Australia Abstract: Tay-Sachs disease (TSD is a fatal, recessively inherited neurodegenerative condition of infancy and early childhood. Although rare in most other populations, the carrier frequency is one in 25 in Ashkenazi Jews. Australian high-school-based TSD preconception genetic screening programs aim to screen, educate, and optimize reproductive choice for participants. These programs have demonstrated high uptake, low psychological morbidity, and have been shown to result in fewer than expected Jewish TSD-affected births over 18 years of operation. The majority of Jewish individuals of reproductive age outside of the high school screening program setting in Australia have not accessed screening. Recent recommendations advocate supplementing the community high school screening programs with general practitioner- and obstetrician-led genetic screening of Ashkenazi Jewish individuals for TSD and other severe recessive diseases for which this group is at risk. Massively parallel DNA sequencing is expected to become the testing modality of choice over the coming years. Keywords: Tay-Sachs disease, genetic screening, Australia

[Tay-Sachs disease in non-Jewish infant in Israel].

Science.gov (United States)

Nadim, Nasser

2012-01-01

Tay-Sachs disease, also known as GM2 gangliosidosis or Hexosaminidase A deficiency is an autosomal recessive genetic fatal disorder. The disease is known to appear in East European Ashkenazi Jews, North African Jews, and Quebec French Canadians exclusively, but, with different frequency and type of mutation. Its most common variant is the infantile type Tay-Sachs disease. Juvenile and late-onset forms of the disease are infrequent and slowly progressive. At nearly 3 to 6 months old, a baby with Tay-Sachs progressively loses his motor skills and attentiveness. Startle responses and hyperreflexia become prominent, especially on eliciting deep patellar and Achilles reflexes, as a consequence of neurodegeneration of the upper motor neuron. Other systemic damage ensues gradually; seizures, blindness, spasticity of limbs, inability to swallow and breathe, and eventually the baby dies at 1-4 years of age. All Tay-Sachs patients have a "cherry red spot", easily seen in the macula area of the retina, using an ophthalmoscope. The "cherry red spot" is the only normal part of the retina in these sick babies. The case presented here emphasizes that Tay-Sachs disease is sometimes misdiagnosed at first visits even by an experienced clinician, because of his lack of awareness that this disease is not exclusively a Jewish disease.

Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.

Science.gov (United States)

Guetta, Esther; Peleg, Leah

2008-01-01

Tay-Sachs disease is an autosomal recessive storage disease caused by the impaired activity of the lysosomal enzyme hexosaminidase A. In this fatal disease, the sphingolipid GM2 ganglioside accumulates in the neurons. Due to high carrier rates and the severity of the disease, population screening and prenatal diagnosis of Tay-Sachs disease are routinely carried out in Israel. Laboratory diagnosis of Tay-Sachs is carried out with biochemical and DNA-based methods in peripheral and umbilical cord blood, amniotic fluid, and chorionic villi samples. The assay of hexosaminidase A (Hex A) activity is carried out with synthetic substrates, 4-methylumbelliferyl-6-sulfo-N-acetyl-beta-glucosaminide (4-MUGS) and 4-methylumbelliferil-N-acetyl-beta-glucosamine (4-MUG), and the DNA-based analysis involves testing for the presence of specific known mutations in the alpha-subunit gene of Hex A. Prenatal diagnosis of Tay-Sachs disease is accomplished within 24-48 h from sampling. The preferred strategy is to simultaneously carry out enzymatic analysis in the amniotic fluid supernatant or in chorionic villi and molecular DNA-based testing in an amniotic fluid cell-pellet or in chorionic villi.

Tay-Sachs and Sandhoff Diseases

Science.gov (United States)

... more common in these groups: Creole of northern Argentina Metis Indians in Saskatchewan, Canada Lebanese If you or your partner is part of these ethnic groups, or you have a family history of Tay-Sachs disease or Sandhoff disease, tell ...

Enfermedad de Tay-Sachs

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Albia Josefina Pozo Alonso

Full Text Available La enfermedad de Tay-Sachs es un trastorno neurodegenerativo progresivo de herencia autosómica recesiva. Se debe a la deficiencia de la enzima β-hexosaminidasa A, que provoca una acumulación de gangliósidos GM2 en los lisosomas. Se incluye dentro de las esfingolipidosis. De las esfingolipidosis que presentan mancha rojo cereza en la mácula, la enfermedad de Tay-Sachs es la única en la que no se evidencia hepatoesplenomegalia. La variante más frecuente se inicia en la lactancia. Se presenta un lactante del sexo masculino al que se le realizó el diagnóstico de esta entidad a los 8 meses de edad. A partir de los 4 meses comenzó a presentar una reacción de sobresalto. A los 6 meses comenzó a perder habilidades previamente adquiridas y crisis epilépticas mioclónicas. Se constató una disminución de la actividad específica de la enzima hexosaminidasa A en leucocitos.

Proton MR spectroscopy in three children with Tay-Sachs disease.

Science.gov (United States)

Aydin, Kubilay; Bakir, Baris; Tatli, Burak; Terzibasioglu, Ege; Ozmen, Meral

2005-11-01

Tay-Sachs disease is an inherited metabolic disease caused by the accumulation of GM(2) gangliosides in the central nervous system. Deficiency of hexosaminidase A leads to the accumulation of gangliosides in neurons, axons and glial cells. To present the cranial MRI and proton MR spectroscopy findings of children of Tay-Sachs disease. Three children aged 10, 20 and 21 months were examined. On T2-weighted MR images there were hyperintense signal changes in the basal ganglia and cerebral white matter. MR spectroscopy demonstrated an increase in myoinositol/creatine and choline/creatine ratios with a decrease in the N-acetyl aspartate/creatine ratio. The spectroscopy findings support demyelination, gliosis and neuronal loss in the neuropathological process of Tay-Sachs disease.

Proton MR spectroscopy in three children with Tay-Sachs disease

Energy Technology Data Exchange (ETDEWEB)

Aydin, Kubilay; Bakir, Baris; Terzibasioglu, Ege [Istanbul University, Neuroradiology Division, Department of Radiology, Istanbul (Turkey); Tatli, Burak; Ozmen, Meral [Istanbul University, Department of Paediatric Neurology, Istanbul (Turkey)

2005-11-01

Tay-Sachs disease is an inherited metabolic disease caused by the accumulation of GM{sub 2} gangliosides in the central nervous system. Deficiency of hexosaminidase A leads to the accumulation of gangliosides in neurons, axons and glial cells. To present the cranial MRI and proton MR spectroscopy findings of children of Tay-Sachs disease. Three children aged 10, 20 and 21 months were examined. On T2-weighted MR images there were hyperintense signal changes in the basal ganglia and cerebral white matter. MR spectroscopy demonstrated an increase in myoinositol/creatine and choline/creatine ratios with a decrease in the N-acetyl aspartate/creatine ratio. The spectroscopy findings support demyelination, gliosis and neuronal loss in the neuropathological process of Tay-Sachs disease. (orig.)

Proton MR spectroscopy in three children with Tay-Sachs disease

International Nuclear Information System (INIS)

Aydin, Kubilay; Bakir, Baris; Terzibasioglu, Ege; Tatli, Burak; Ozmen, Meral

2005-01-01

Tay-Sachs disease is an inherited metabolic disease caused by the accumulation of GM 2 gangliosides in the central nervous system. Deficiency of hexosaminidase A leads to the accumulation of gangliosides in neurons, axons and glial cells. To present the cranial MRI and proton MR spectroscopy findings of children of Tay-Sachs disease. Three children aged 10, 20 and 21 months were examined. On T2-weighted MR images there were hyperintense signal changes in the basal ganglia and cerebral white matter. MR spectroscopy demonstrated an increase in myoinositol/creatine and choline/creatine ratios with a decrease in the N-acetyl aspartate/creatine ratio. The spectroscopy findings support demyelination, gliosis and neuronal loss in the neuropathological process of Tay-Sachs disease. (orig.)

A critique of Jeffrey D. Sachs's The end of poverty.

Science.gov (United States)

Henwood, Doug

2006-01-01

Jeffrey Sachs's The End of Poverty is a manifesto and how-to guide on ending extreme poverty around the world; it promotes the U.N. Millennium Development Goals. Sachs achieved fame with his policy package for the "stabilization" of Bolivia (which did nothing to relieve Bolivia's poverty), and became advisor to the Yeltsin government in Russia and to Poland, Slovenia, and Estonia as they began their transitions to capitalism (the last three mixed successes; Russia a thorough disaster). Sachs later became more prominent as a critic of development orthodoxy, and was economic advisor to the Jubilee 2000 movement. The End of Poverty is full of sharp critiques of Western imperialism, but his views on the rest of the development business are more conventional.

Effective gene therapy in an authentic model of Tay-Sachs-related diseases.

Science.gov (United States)

Cachón-González, M Begoña; Wang, Susan Z; Lynch, Andrew; Ziegler, Robin; Cheng, Seng H; Cox, Timothy M

2006-07-05

Tay-Sachs disease is a prototypic neurodegenerative disease. Lysosomal storage of GM2 ganglioside in Tay-Sachs and the related disorder, Sandhoff disease, is caused by deficiency of beta-hexosaminidase A, a heterodimeric protein. Tay-Sachs-related diseases (GM2 gangliosidoses) are incurable, but gene therapy has the potential for widespread correction of the underlying lysosomal defect by means of the secretion-recapture cellular pathway for enzymatic complementation. Sandhoff mice, lacking the beta-subunit of hexosaminidase, manifest many signs of classical human Tay-Sachs disease and, with an acute course, die before 20 weeks of age. We treated Sandhoff mice by stereotaxic intracranial inoculation of recombinant adeno-associated viral vectors encoding the complementing human beta-hexosaminidase alpha and beta subunit genes and elements, including an HIV tat sequence, to enhance protein expression and distribution. Animals survived for >1 year with sustained, widespread, and abundant enzyme delivery in the nervous system. Onset of the disease was delayed with preservation of motor function; inflammation and GM2 ganglioside storage in the brain and spinal cord was reduced. Gene delivery of beta-hexosaminidase A by using adeno-associated viral vectors has realistic potential for treating the human Tay-Sachs-related diseases.

Sachês antimicrobianos em pós-colheita de manga

Directory of Open Access Journals (Sweden)

Eber Antonio Alves Medeiros

2011-10-01

Full Text Available Objetivou-se com este trabalho desenvolver sachês incorporados com óleos essenciais avaliando as propriedades físico-químicas e microbiológicas de mangas armazenadas em saco de papel contendo estes sachês em seu interior. Os óleos essenciais de orégano (Origanum vulgaris e capim-limão (Cymbopogon citratus foram incorporados em saches, e sua atividade antimicrobiana foi testada nos fungos Colletotrichum gloeosporides, Lasiodiplodia theobromae, Xanthomonas campestris pv. mangiferae indica, Alternaria alternata. Frutos de manga 'Tommy Atkins' foram acondicionados individualmente em sacos de papel contendo em seu interior um sachê antimicrobiano e mantidos a 25 °C ± 2 °C e UR 80% ± 5% por nove dias. Os parâmetros cor da epiderme, firmeza de polpa, sólidos solúveis, acidez titulável e pH sofreram pouca influência dos óleos essenciais de orégano e capim limão, indicando que a presença do óleo essencial não altera as características físico-químicas da polpa de manga. Os sachês ativos incorporados com óleos essenciais de orégano e capim limão apresentaram controle no crescimento dos microrganismos testados, sendo o capim-limão mais eficiente, reduzindo em aproximadamente 2 ciclos Log a contagem de mesófilos aeróbios e fungos filamentosos e leveduras em relação ao tratamento controle empregado.

'Cherry red spot' in a patient with Tay-Sachs disease: case report.

Science.gov (United States)

Aragão, Ricardo Evangelista Marrocos de; Ramos, Régia Maria Gondim; Pereira, Felipe Bezerra Alves; Bezerra, Andreya Ferreira Rodrigues; Fernandes, Daniel Nogueira

2009-01-01

Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzyme hexosaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in progressive loss of neurological function. The accumulation of lipid in retinal ganglion cells that leads to a chalk-white appearance of the fundus called 'cherry red spot' is the hallmark of Tay-Sachs disease. It is also seen in others neurometabolic diseases as well as in central retinal artery occlusion. This case reports a child with Tay-Sachs disease in a family with four previous similar deaths without diagnostic.

"Cherry red spot" in a patient with Tay-Sachs disease: case report "Mácula em cereja" em paciente com doença de Tay-Sachs: relato de caso

Directory of Open Access Journals (Sweden)

Ricardo Evangelista Marrocos de Aragão

2009-08-01

Full Text Available Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzime hexosaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in progressive loss of neurological function. The accumulation of lipid in retinal ganglion cells that leads to a chalk-white appearance of the fundus called "cherry red spot" is the hallmark of Tay-Sachs disease. It is also seen in others neurometabolic diseases as well as in central retinal artery occlusion. This case reports a child with Tay-Sachs disease in a family with four previous similar deaths without diagnostic.Tay-Sachs é uma doença autossômica recessiva, caracterizada pela deficiência da enzima hexosaminidase A levando ao acúmulo de esfingolipídios (GM2 em células neuronais que resulta em uma perda progressiva da função neurológica. O acúmulo de lipídios em células ganglionais da retina leva a uma aparência de mácula em cereja, característica do fundo de olho de pessoas acometidas. "Mácula em cereja" também pode ser vista em outras doenças neurometabólicas e em oclusão da artéria central da retina. Este trabalho relata o caso de um paciente com doença de Tay-Sachs em uma família com história de quatro óbitos por causas semelhantes sem diagnóstico.

CMB anisotropies at all orders: the non-linear Sachs-Wolfe formula

OpenAIRE

Roldan, Omar

2017-01-01

We obtain the non-linear generalization of the Sachs-Wolfe + integrated Sachs-Wolfe (ISW) formula describing the CMB temperature anisotropies. Our formula is valid at all orders in perturbation theory, is also valid in all gauges and includes scalar, vector and tensor modes. A direct consequence of our results is that the maps of the logarithmic temperature anisotropies are much cleaner than the usual CMB maps, because they automatically remove many secondary anisotropies. This can for instan...

Tay-Sach disease with "cherry-red spot"--first reported case in Malaysia.

Science.gov (United States)

Chan, L Y; Balasubramaniam, S; Sunder, R; Jamalia, R; Karunakar, T V N; Alagaratnam, J

2011-12-01

We present a rare case of Tay-Sachs disease with retinal 'cherry-red spots' in a 19-month-old Malay child. Molecular genetic studies confirmed the diagnosis. The case highlights that 'cherry-red spot' is a useful clinical clue in Tay-Sachs disease and several other lysosomal storage disorders. It serves as an ideal illustration of the eye as a window to inborn error of metabolism.

Tay Sachs and Related Storage Diseases: Family Planning

Science.gov (United States)

Schneiderman, Gerald; And Others

1978-01-01

Based on interviews with 24 families, the article discusses family planning and the choices available to those families in which a child has previously died from Tay-Sachs or related lipid storage diseases. (IM)

Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.

OpenAIRE

Lane, A B; Young, E; Jenkins, T

1980-01-01

A non-Jewish family is presented in which the genes for Tay-Sachs disease and Sandhoff disease are segregating. Individuals heterozygous for both alleles have low serum and white cell total hexosaminidase levels together with a proportion of heat-labile hexosaminidase A (HEX A) which falls in the normal range. The individuals would not be detected as carriers of Tay-Sachs disease or Sandhoff disease in a population screening program.

Distribution of a pseudodeficiency allele among Tay-Sachs carriers

Energy Technology Data Exchange (ETDEWEB)

Tomczak, J.; Grebner, E.E. (Thomas Jefferson Univ., Philadelphia, PA (United States)); Boogen, C. (Univ. of Essen Medical School (Germany))

1993-08-01

Recently Triggs-Raine et al. (1992) identified a new mutation in the gene coding for the [alpha]-subunit of [beta]-hexosaminidase A (hex A), the enzyme whose deficiency causes Tay-Sachs disease. This mutation, a C[sub 739]-to-T transition in exon 7, results in an altered enzyme that is active (albeit at reduced levels) in cells but that has essentially no activity in serum. This so-called pseudodeficient allele was first detected in compound heterozygotes who also carried a Tay-Sachs disease allele and therefore had no detectable hex A in their serum but who were in good health. Carriers of this apparently benign mutation are generally indistinguishable from carriers of a lethal mutation by means of routine enzyme-based screening tests, because the product of the pseudodeficient allele is not detectable in serum and has decreased activity in cells. This suggests that some individuals who have been classified as Tay-Sachs carriers are actually carriers of the pseudodeficient allele and are not at risk to have a child affected with Tay-Sachs disease. The pseudodeficient allele may also be responsible for some inconclusive diagnoses, where leukocyte values fall below the normal range but are still above the carrier range. The fact that there are now two mutant alleles (the psuedodeficient and the adult) that are indistinguishable from the lethal infantile mutations by means of enzyme assay yet that are phenotypically very different and that together may account for as much as 12% of enzyme-defined carriers on the basis of the data here suggests that DNA analysis should be part of a comprehensive screening program. It will be particularly useful to identify the mutations in couples at risk, before they undergo prenatal diagnosis. DNA analysis will also resolve some inconclusive diagnoses.

Outcomes of arthroscopic "Remplissage": capsulotenodesis of the engaging large Hill-Sachs lesion

Directory of Open Access Journals (Sweden)

Mayo Lee

2011-06-01

Full Text Available Abstract Background A Hill-Sachs lesion of the humeral head after a shoulder dislocation is clinically insignificant in most cases. However, a sizable defect will engage with the anterior rim of the glenoid and cause instability even after anterior glenoid reconstruction. The purpose of this study was to evaluate the outcome of arthroscopic capsulotenodesis of the posterior capsule and infraspinatus tendon ("remplissage" to seal a large engaging Hill-Sachs lesion in an unstable shoulder. Methods This was a prospective follow-up study of patients who underwent arthroscopic surgery for recurrent shoulder instability with a large engaging Hill-Sachs lesion from 2007 to 2009. The clinical results were measured preoperatively and postoperatively with the Simple Shoulder test (SST and the Rowe score for instability. Results Eleven patients met the inclusion criteria of this study. The mean follow-up time was 30 months (range 24 to 35 months. At the last follow-up, significant improvement was observed in both scores with no recurrent dislocations. The mean SST improved from 6.6 to 11 (p Conclusions Arthroscopic remplissage for shoulder instability is an effective soft tissue technique to seal a large engaging Hill-Sachs lesion with respect to recurrence rate, range of motion and shoulder function.

Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.

Science.gov (United States)

Lane, A B; Young, E; Jenkins, T

1980-01-01

A non-Jewish family is presented in which the genes for Tay-Sachs disease and Sandhoff disease are segregating. Individuals heterozygous for both alleles have low serum and white cell total hexosaminidase levels together with a proportion of heat-labile hexosaminidase A (HEX A) which falls in the normal range. The individuals would not be detected as carriers of Tay-Sachs disease or Sandhoff disease in a population screening program. PMID:7446530

The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program.

Science.gov (United States)

Rozenberg, R; Pereira, L da V

2001-07-05

Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community. Laboratory of Molecular Genetics--Institute of Biosciences--Universidade de São Paulo. 581 senior students from selected Jewish high schools. Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion. Among 581 students that attended educational classes, 404 (70%) elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65% were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample. The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.

The white matter of the human cerebrum: Part I The occipital lobe by Heinrich Sachs

Science.gov (United States)

Forkel, Stephanie J.; Mahmood, Sajedha; Vergani, Francesco; Catani, Marco

2015-01-01

This is the first complete translation of Heinrich Sachs' outstanding white matter atlas dedicated to the occipital lobe. This work is accompanied by a prologue by Prof Carl Wernicke who for many years was Sachs' mentor in Breslau and enthusiastically supported his work. PMID:25527430

[Sandhoff's and Tay-Sachs disease--based on our own cases].

Science.gov (United States)

Kokot, Witold; Raczyńska, Krystyna; Krajka-Lauer, Jarosława; Iwaszkiewicz-Bilikiewicz, Barbara; Wierzba, Jolanta

2004-01-01

The authors described two infant with Sandhoff's and Tay-Sachs disease. Tay-Sachs disease is well-known inherited disease leading to an accumulation of gangliosides in the brain and retina. Sandhoffs disease (GM2 gangliosidosis type 0) was diagnosed in an infant, in whom a progressive neurological disorder and cherry-red foveal spots were developed. In addition, to the general clinical examination, indirect ophthalnoscopy, blood white cells enzymatic examination are used to make definitive diagnosis. In this cases, the early eye fundus examination allowed us to make the proper diagnosis. The fundus change is characterized by the "cherry-red spot" in the central area.

The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program

Directory of Open Access Journals (Sweden)

Roberto Rozenberg

Full Text Available CONTEXT: Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. OBJECTIVE: To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community. SETTING: Laboratory of Molecular Genetics - Institute of Biosciences - Universidade de São Paulo. PARTICIPANTS: 581 senior students from selected Jewish high schools. PROCEDURE: Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion. RESULTS: Among 581 students that attended educational classes, 404 (70% elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65% were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample. CONCLUSION: The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: Implications for carrier screening

Energy Technology Data Exchange (ETDEWEB)

Triggs-Raine, B.L.; Akerman, B.R.; Gravel, R.A. (McGill Univ.-Montreal Children' s Hospital Research Institute, Montreal, Quebec (Canada)); Mules, E.H.; Thomas, G.H.; Dowling, C.E. (Johns Hopkins School of Medicine, Baltimore, MD (United States)); Kaback, M.M.; Lim-Steele, J.S.T. (Univ. of California, San Diego, CA (United States)); Natowicz, M.R. (Eunice Kennedy Shriver Center for Mental Retardation, Waltham, MA (United States)); Grebner, E.E. (Thomas Jefferson Univ., Philadelphia, PA (United States)); Navon, R.R. (Tel-Aviv Univ., Kfar-Sava (Israel)); Welch, J.P. (Dalhousie Univ., Halifax, Nova, Scotia (Canada)); Greenberg, C.R. (Univ. of Manitoba, Winnipeg (Canada))

1992-10-01

Deficiency of [beta]-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described. The authors analyzed the HEXA gene of one pseudodeficient subject and identified both a C[sub 739]-to-T substitution that changes Arg[sub 247][yields]Trp on one allele and a previously identified Tay-Sachs disease mutation of the second allele. Six additional pseudodeficient subjects were found to have the C[sub 739]-to-T but for none of 36 Jewish enzyme-defined carries who did not have one of three known mutations common to this group. The C[sub 739]-to-T allele, together with a [open quotes]true[close quotes] Tay-Sachs disease allele, causes Hex A pseudodeficiency. Given both the large proportion of non-Jewish carriers with this allele and that standard biochemical screening cannot differentiate between heterozygotes for the C[sub 739]-to-T mutations and Tay-Sachs disease carriers, DNA testing for this mutation in at-risk couples is essential. This could prevent unnecessary or incorrect prenatal diagnoses. 40 refs., 3 figs., 4 tabs.

The white matter of the human cerebrum: part I The occipital lobe by Heinrich Sachs.

Science.gov (United States)

Forkel, Stephanie J; Mahmood, Sajedha; Vergani, Francesco; Catani, Marco

2015-01-01

This is the first complete translation of Heinrich Sachs' outstanding white matter atlas dedicated to the occipital lobe. This work is accompanied by a prologue by Prof Carl Wernicke who for many years was Sachs' mentor in Breslau and enthusiastically supported his work. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

Planck 2015 results: XXI. The integrated Sachs-Wolfe effect

DEFF Research Database (Denmark)

Ade, P. A R; Aghanim, N.; Arnaud, M.

2016-01-01

This paper presents a study of the integrated Sachs-Wolfe (ISW) effect from the Planck 2015 temperature and polarization data release. This secondary cosmic microwave background (CMB) anisotropy caused by the large-scale time-evolving gravitational potential is probed from different perspectives....

CMB anisotropies at all orders: the non-linear Sachs-Wolfe formula

International Nuclear Information System (INIS)

Roldan, Omar

2017-01-01

We obtain the non-linear generalization of the Sachs-Wolfe + integrated Sachs-Wolfe (ISW) formula describing the CMB temperature anisotropies. Our formula is valid at all orders in perturbation theory, is also valid in all gauges and includes scalar, vector and tensor modes. A direct consequence of our results is that the maps of the logarithmic temperature anisotropies are much cleaner than the usual CMB maps, because they automatically remove many secondary anisotropies. This can for instance, facilitate the search for primordial non-Gaussianity in future works. It also disentangles the non-linear ISW from other effects. Finally, we provide a method which can iteratively be used to obtain the lensing solution at the desired order.

CMB anisotropies at all orders: the non-linear Sachs-Wolfe formula

Energy Technology Data Exchange (ETDEWEB)

Roldan, Omar, E-mail: oaroldan@if.ufrj.br [Instituto de Física, Universidade Federal do Rio de Janeiro, 21941-972, Rio de Janeiro, RJ (Brazil)

2017-08-01

We obtain the non-linear generalization of the Sachs-Wolfe + integrated Sachs-Wolfe (ISW) formula describing the CMB temperature anisotropies. Our formula is valid at all orders in perturbation theory, is also valid in all gauges and includes scalar, vector and tensor modes. A direct consequence of our results is that the maps of the logarithmic temperature anisotropies are much cleaner than the usual CMB maps, because they automatically remove many secondary anisotropies. This can for instance, facilitate the search for primordial non-Gaussianity in future works. It also disentangles the non-linear ISW from other effects. Finally, we provide a method which can iteratively be used to obtain the lensing solution at the desired order.

Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.

Science.gov (United States)

Kodama, Takashi; Togawa, Tadayasu; Tsukimura, Takahiro; Kawashima, Ikuo; Matsuoka, Kazuhiko; Kitakaze, Keisuke; Tsuji, Daisuke; Itoh, Kohji; Ishida, Yo-Ichi; Suzuki, Minoru; Suzuki, Toshihiro; Sakuraba, Hitoshi

2011-01-01

To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2) levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified hexosaminidase (Hex) B exhibiting Hex A-like activity was examined. Then, the lyso-GM2 concentrations in human plasma samples were determined. The lyso-GM2 levels in the brain and plasma in Sandhoff mice were apparently increased compared with those in wild-type mice, and they decreased on intracerebroventricular administration of the modified Hex B. The lyso-GM2 levels in plasma of patients with Tay-Sachs disease and Sandhoff disease were increased, and the increase in lyso-GM2 was associated with a decrease in Hex A activity. Lyso-GM2 is expected to be a potential biomarker of Tay-Sachs disease and Sandhoff disease.

Tay Sachs disease: an autopsy case report.

Science.gov (United States)

Jadhav, Meenal Vitthal; Landge, Meenal P; Sawaimoon, Satyakam K; Harke, Arun B; Deshmukh, Sanjay D

2005-10-01

This report describes a case report of a postmortem performed on a 5-year old patient of Tay-Sachs disease, presenting with failure to thrive, muscular flaccidity, and cherry-red spots on macula on fundoscopy. There was no history of similarly affected sibling or any other family member. The diagnosis was confirmed by enzyme studies. At postmortem, there was no organomegaly. The brain, on microscopy, showed vacuolated swollen neurons.

Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.

Directory of Open Access Journals (Sweden)

Takashi Kodama

Full Text Available To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2 levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified hexosaminidase (Hex B exhibiting Hex A-like activity was examined. Then, the lyso-GM2 concentrations in human plasma samples were determined. The lyso-GM2 levels in the brain and plasma in Sandhoff mice were apparently increased compared with those in wild-type mice, and they decreased on intracerebroventricular administration of the modified Hex B. The lyso-GM2 levels in plasma of patients with Tay-Sachs disease and Sandhoff disease were increased, and the increase in lyso-GM2 was associated with a decrease in Hex A activity. Lyso-GM2 is expected to be a potential biomarker of Tay-Sachs disease and Sandhoff disease.

Correlation of augmented startle reflex with brainstem electrophysiological responses in Tay-Sachs disease.

Science.gov (United States)

Nakamura, Sadao; Saito, Yoshiaki; Ishiyama, Akihiko; Sugai, Kenji; Iso, Takashi; Inagaki, Masumi; Sasaki, Masayuki

2015-01-01

To clarify the evolution of an augmented startle reflex in Tay-Sachs disease and compare the temporal relationship between this reflex and brainstem evoked potentials. Clinical and electrophysiological data from 3 patients with Tay-Sachs disease were retrospectively collected. The augmented startle reflex appeared between the age of 3 and 17 months and disappeared between the age of 4 and 6 years. Analysis of brainstem auditory evoked potentials revealed that poor segregation of peak I, but not peak III, coincided with the disappearance of the augmented startle reflex. A blink reflex with markedly high amplitude was observed in a patient with an augmented startle reflex. The correlation between the augmented startle reflex and the preservation of peak I but not peak III supports the theory that the superior olivary nucleus is dispensable for this reflex. The blink reflex with high amplitudes may represent augmented excitability of reticular formation at the pontine tegmentum in Tay-Sachs disease, where the pattern generators for the augmented startle and blink reflexes may functionally overlap. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study.

Science.gov (United States)

Elstein, D; Doniger, G M; Simon, E; Korn-Lubetzki, I; Navon, R; Zimran, A

2008-08-01

To test neurocognitive function in patients with late-onset Tay-Sachs disease (LOTS) using a computerized system to assess whether cognition is a clinically relevant outcome measure of possible therapeutic intervention in LOTS. Ten adults with Tay-Sachs disease were administered at least one battery of the Mindstreams Neurotrax system for evaluation of cognitive function. Six sub-scores and a Global Cognitive Score (GCS) were tabulated. A disease specific severity score was also devised with six domains. Despite identical genotypes, all patients but the two oldest had > or = 3/6 sub-scores one standard deviation below normal mean (100); verbal and executive functions were most affected. The severity score measured other functions. Because of provocative findings on re-testing in patients exposed to miglustat, and despite the very small cohort, cognitive function may be an appropriate and clinically relevant outcome measure for future therapeutic interventions in LOTS.

Tay-Sachs disease with conspicuous cranial computerized tomographic appearances

International Nuclear Information System (INIS)

Watanabe, Kishichiro; Mukawa, Akio; Muto, Kazuhiko; Nishikawa, Jiro; Takahashi, Shigeko.

1985-01-01

An autopsy case of a 3-year-old female infant with Tay-Sachs disease was presented. A cherry red spot in the fundus and a deficiency of N-acetyl-β-hexosaminidase A in the white blood cells were revealed soon after admission at the age of one year. Her parents and sister were found to be healthy carriers. The patient showed a typical clinical course with marked cranial swelling. In addition to the marked ballooning of neurons on light microscope, membranous cytoplasmic body (MCB) on electron microscope and abnormal accumulation of GM 2 ganglioside in the cerebral cortex by thin layer chromatography were confirmed in the autopsy specimens. In the late stage of her clinical course, the cranial computerized tomography (CT) demonstrated symmetric and deep-wavy hyperdense cerebral cortical zones, diffuse hypodensity and diminished volume of cerebral white matter, mild to moderate ventricular dilatation, and a small cerebellum and brainstem. These conspicuous appearances of the cranial CT seem to be characteristic of Tay-Sachs disease in the late stage, and they are derived from abnormal accumulation of GM 2 ganglioside in the cerebral cortex, and diffuse intense demyelination (dysmyelinating demyelination) of the cerebral white matter. (author)

Choroidal Coloboma in a Case of Tay-Sachs Disease

OpenAIRE

Ahmed, Nasreen Raees; Tripathy, Koushik; Kumar, Vivek; Gogia, Varun

2014-01-01

Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matter of chance or signifies the involvement of ganglioside metabolism in ocular embryogenesis remains to be elucidated.

Choroidal coloboma in a case of tay-sachs disease.

Science.gov (United States)

Ahmed, Nasreen Raees; Tripathy, Koushik; Kumar, Vivek; Gogia, Varun

2014-01-01

Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matter of chance or signifies the involvement of ganglioside metabolism in ocular embryogenesis remains to be elucidated.

Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.

Science.gov (United States)

Chamoles, Néstor A; Blanco, Mariana; Gaggioli, Daniela; Casentini, Carina

2002-04-01

Tay-Sachs disease (TSD), Sandhoff disease (SD) and variants are caused by deficient activity of the lysosomal enzymes hexosaminidase A (HA) and total hexosaminidase (TH) (hexosaminidase A plus B), respectively. For diagnosis, these enzymes are usually measured in plasma or extracts of leukocytes. We describe methods for the assay of hexosaminidase A and total hexosaminidase activities in dried blood spots (DBSs) on filter paper. We studied 163 healthy controls, 9 Tay-Sachs patients, 4 Sandhoff patients, 18 obligate carriers and the newborn-screening cards from two patients with Tay-Sachs and one patient with Sandhoff disease. To tubes containing a 3-mm-diameter blood spot, we added elution liquid and substrate solution. After incubation at 37 degrees C, the amount of hydrolyzed product was compared with a calibrator to allow the quantification of enzyme activity. The described methodology is useful to distinguish patients with Tay-Sachs disease or Sandhoff disease from carriers and controls using samples that are sufficiently stable to be transported to the testing laboratory by mail. The diagnosis of both diseases from a newborn-screening card (NSC) was clearly demonstrated, even after storage for up to 38 months at room temperature. The newborn-screening card has been added to the biological materials that allow the identification of patients with Tay-Sachs disease and Sandhoff disease.

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.

Science.gov (United States)

Hussein, Norita; Weng, Stephen F; Kai, Joe; Kleijnen, Jos; Qureshi, Nadeem

2018-03-14

Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting. This is an update of a previously published review. To assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Registers. In addition, we searched for all relevant trials from 1970 (or the date at which the database was first available if after 1970) to date using electronic databases (MEDLINE, Embase, CINAHL, PsycINFO), clinical trial databases (National Institutes of Health, Clinical Trials Search portal of the World Health Organization, metaRegister of controlled clinical trials), and hand searching of key journals and conference abstract books from 1998 to date (European Journal of Human Genetics, Genetics in Medicine, Journal of Community Genetics). We also searched the reference lists of relevant articles, reviews and guidelines and also contacted subject experts in the field to request any unpublished or other published trials.Date of latest search of the registers: 20 June 2017.Date of latest search of all other sources: 16 November 2017. Any randomised or quasi-randomised controlled trials (published or unpublished) comparing reproductive outcomes of systematic preconception genetic risk assessment for thalassaemia, sickle

İki Kardeşte Görülen Tay-Sachs Hastalığı

OpenAIRE

KÜÇÜKÖDÜK, Ş.

2010-01-01

In view of two cases of autosomal recessive Tay-Sachs disease which affected two siblings, genetic consultation has been once more emphasized. The clinical features of this entity has been reviewed under the information obtained from recent literature. Otozomal resesif geçiş gösteren ve iki kardeşide etkiliyen Tay-Sachs hastalığında, genetik danışmanın önemi bir kez daha vurgulandı. Bu hastalığın klinik özellikleri literatür bilgilerinin ışığı altında gözden geçirildi....

Tay-Sachs disease: high gene frequency in a non-Jewish population.

Science.gov (United States)

Kelly, T E; Chase, G A; Kaback, M M; Kumor, K; McKusick, V A

1975-01-01

A non-Amish "Pennsylvania Dutch" semi-isolate was found to have a high frequency of Tay-Sachs gene. This high frequency could be ascribed to founder effect and may represent, in microcosm, how this mechanism could have produced the high gene frequency among Ashkenazi Jews. PMID:803011

78 FR 24447 - Goldman Sachs Trust, et al.; Notice of Application

Science.gov (United States)

2013-04-25

... SECURITIES AND EXCHANGE COMMISSION [Investment Company Act Release No. 30471; 812-14075] Goldman Sachs Trust, et al.; Notice of Application April 19, 2013. AGENCY: Securities and Exchange Commission..., or cause more than 10% of the acquired company's voting stock to be owned by investment companies and...

Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.

Science.gov (United States)

Rozenberg, R; Kok, F; Burin, M G; Sá Miranda, M C; Vasques, C; Henriques-Souza, A M M; Giugliani, R; Vainzof, Mariz; Pereira, L V

2006-06-01

Molecular analysis of five Brazilian families, including eight patients presenting with nonclassic Tay-Sachs disease, was performed to identify frequent causative mutations and their correlation with clinical course. Three patients were affected by the B1 subacute variant and were shown to carry the R178H mutation (the DN allele), which is also common among Portuguese patients. Two of them were compound heterozygotes, whereas the third presented with the mutation in both alleles. Since Brazil was a Portuguese colony for over two centuries, common ancestry might be the probable explanation. The fourth patient presented with a juvenile phenotype and carries the R499H mutation, which has been reported only once worldwide and is associated with residual enzyme activity, responsible for a slower clinical course. The fifth family, of an Ashkenazi Jewish background, showed an extensive intrafamilial clinical variability among three affected sibs presenting with muscle atrophy, ataxia, and psychiatric symptoms. They were first diagnosed as having atypical spinal muscular atrophy and, subsequently, spinocerebellar ataxia, but, recently, the diagnosis of late-onset Tay-Sachs disease was confirmed based on reduced plasma hexosaminidase A activity and the G269S/InsTATC1278 genotype. It is therefore highly recommended to test patients with a similar clinical history for Tay-Sachs disease. In the same family, one first cousin committed suicide at the age of 24 years, presenting with a clinical phenotype that suggested an undiagnosed case and highlighting the effect of the intrafamilial clinical variability in delaying a prompt diagnosis. It is now recognized that his parents are, in fact, a carrier couple. Additionally, another relative had been previously identified as a heterozygote in a Tay-Sachs disease screening program, but the information was not shared among the family. Since this information might anticipate diagnosis and genetic counseling, it is advisable that

Choroidal Coloboma in a Case of Tay-Sachs Disease

Directory of Open Access Journals (Sweden)

Nasreen Raees Ahmed

2014-01-01

Full Text Available Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matter of chance or signifies the involvement of ganglioside metabolism in ocular embryogenesis remains to be elucidated.

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: Evidence against a single defect within this ethnic group

International Nuclear Information System (INIS)

Myerowitz, R.

1988-01-01

Tay-Sachs disease is an inherited disorder in which the α chain of the lysosomal enzyme β-N-acetylhexosaminidase A bears the mutation. Ashkenazi Jews are found to be carriers for a severe type of Tay-Sachs disease, the classic form, 10 times more frequently than the general population. Ashkenazi Jewish patients with classic Tay-Sachs disease have appeared to be clinically and biochemically identical, and the usual assumption has been that they harbor the same α-chain mutation. The author has isolated the α-chain gene from an Ashkenazi Jewish patient, GM2968, with classic Tay-Sachs disease and compared its nucleotide sequences with that of the normal α-chain gene in the promoter region, exon and splice junction regions, and polyadenylylation signal area. Only one difference was observed between these sequences. The alteration is presumed to be functionally significant and to result in aberrant mRNA splicing. Utilizing the polymerase chain reaction to amplify the region encompassing the mutation, the author developed an assay to screen patients and heterozygote carriers for this mutation. Surprisingly, in each of two Ashkenazi patients, only one α-chain allele harbored the splice junction mutation. Only one parent of each of these patients was positive for the defect. Another Ashkenazi patient did not bear this mutation at all nor did either of the subject's parents. The data are consistent with the presence of more than one mutation underlying the classic form of Tay-Sachs disease in the Ashkenazi Jewish population

General exact solution for homogeneous time-dependent self-gravitating perfect fluids

International Nuclear Information System (INIS)

Gaete, P.; Hojman, R.

1988-01-01

A procedure to obtain the general exact solution of Einstein equations for a self-gravitating spherically-symmetric static perfect fluid obeying an arbitrary equation of state, is applied to time-dependent Kantowsky-Sachs line elements (with spherical, planar and hyperbolic symmetry). As in the static case, the solution is generated by an arbitrary function of the independent variable and its first derivative. To illustrate the results, the whole family of (plane-symmetric) solutions with a ''gamma-law'' equation of state is explicity obtained in terms of simple known functions. It is also shown that, while in the static plane-symmtric line elements, every metric is in one to one correspondence with a ''partner-metric'' (both originated from the same generatrix function), in this case every generatrix function univocally determines one metric. (author) [pt

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: Evidence against a single defect within this ethnic group

Energy Technology Data Exchange (ETDEWEB)

Myerowitz, R. (National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD (USA))

1988-06-01

Tay-Sachs disease is an inherited disorder in which the {alpha} chain of the lysosomal enzyme {beta}-N-acetylhexosaminidase A bears the mutation. Ashkenazi Jews are found to be carriers for a severe type of Tay-Sachs disease, the classic form, 10 times more frequently than the general population. Ashkenazi Jewish patients with classic Tay-Sachs disease have appeared to be clinically and biochemically identical, and the usual assumption has been that they harbor the same {alpha}-chain mutation. The author has isolated the {alpha}-chain gene from an Ashkenazi Jewish patient, GM2968, with classic Tay-Sachs disease and compared its nucleotide sequences with that of the normal {alpha}-chain gene in the promoter region, exon and splice junction regions, and polyadenylylation signal area. Only one difference was observed between these sequences. The alteration is presumed to be functionally significant and to result in aberrant mRNA splicing. Utilizing the polymerase chain reaction to amplify the region encompassing the mutation, the author developed an assay to screen patients and heterozygote carriers for this mutation. Surprisingly, in each of two Ashkenazi patients, only one {alpha}-chain allele harbored the splice junction mutation. Only one parent of each of these patients was positive for the defect. Another Ashkenazi patient did not bear this mutation at all nor did either of the subject's parents. The data are consistent with the presence of more than one mutation underlying the classic form of Tay-Sachs disease in the Ashkenazi Jewish population.

Role of the physician in screening for carriers of Tay-Sachs disease.

Science.gov (United States)

Lowden, J. A.

1978-01-01

A screening test for carriers of Tay-Sachs disease has been available in Toronto for more than 6 years. In that time more than 11 000 Jewish residents have been tested. Most had requested testing after hearing about the screening program from friends or the media; few had been advised by their physicians to be tested. To sample the attitudes of physicians in Toronto towards carrier screening, we studied questionnaire responses of 42 physicians whose practices were composed largely of Jewish patients. Only 31% regularly advised their young adult Jewish patients to have a carrier screening test but 76% said they had patients who asked if they should be tested. Of the 14 (33%) who had had one or more patients with Tay-Sachs disease 6 did not advise carrier testing. There was a positive correlation between specialty training and support for the screening program. Methods for increasing physician advocacy of these programs are discussed. PMID:709448

Black Hole Entropy from Bondi-Metzner-Sachs Symmetry at the Horizon.

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Carlip, S

2018-03-09

Near the horizon, the obvious symmetries of a black hole spacetime-the horizon-preserving diffeomorphisms-are enhanced to a larger symmetry group with a three-dimensional Bondi-Metzner-Sachs algebra. Using dimensional reduction and covariant phase space techniques, I investigate this augmented symmetry and show that it is strong enough to determine the black hole entropy in any dimension.

Rapid identification of HEXA mutations in Tay-Sachs patients.

Science.gov (United States)

Giraud, Carole; Dussau, Jeanne; Azouguene, Emilie; Feillet, François; Puech, Jean-Philippe; Caillaud, Catherine

2010-02-19

Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder due to mutations in the HEXA gene resulting in a beta-hexosaminidase A (Hex A) deficiency. The purpose of this study was to characterize the molecular abnormalities in patients with infantile or later-onset forms of the disease. The complete sequencing of the 14 exons and flanking regions of the HEXA gene was performed with a unique technical condition in 10 unrelated TSD patients. Eleven mutations were identified, including five splice mutations, one insertion, two deletions and three single-base substitutions. Four mutations were novel: two splice mutations (IVS8+5G>A, IVS2+4delAGTA), one missense mutation in exon 6 (c.621T>G (p.D207E)) and one small deletion (c.1211-1212delTG) in exon 11 resulting in a premature stop codon at residue 429. The c.621T>G missense mutation was found in a patient presenting an infantile form. Its putative role in the pathogenesis of TSD is suspected as residue 207 is highly conserved in human, mouse and rat. Moreover, structural modelling predicted changes likely to affect substrate binding and catalytic activity of the enzyme. The time-saving procedure reported here could be useful for the characterization of Tay-Sachs-causing mutations, in particular in non-Ashkenazi patients mainly exhibiting rare mutations. Copyright (c) 2010 Elsevier Inc. All rights reserved.

Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatment.

Science.gov (United States)

Shapiro, B E; Hatters-Friedman, S; Fernandes-Filho, J A; Anthony, K; Natowicz, M R

2006-09-12

The authors conducted a retrospective and brief prospective study of adverse effects of approximately 350 medications in 44 adults with late-onset Tay-Sachs disease (LOTS). Some medications were relatively safe, whereas others, particularly haloperidol, risperidone, and chlorpromazine, were associated with neurologic worsening.

Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population.

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Udwadia-Hegde, Anaita; Hajirnis, Omkar

2017-01-01

Juvenile Tay-Sachs disease is rarer than other forms of Tay-Sachs disease and is usually seen in children between the age of 2 and 10 years. Pyrimethamine as a pharmacological chaperone was used to increase β-hexosaminidase A activity in this patient. We describe a patient with Tay-Sachs disease from the Indian population, a juvenile case who presented with developmental regression starting at the age of three, initially with motor followed by language regression. She is currently incapacitated with severe behavioral issues. This brief communication gives an insight into the efficacy of pharmacological chaperones. It also describes two unreported mutations in hexosaminidase A gene from the Indian population. After commencing Pyrimethamine, though initial benefits with increase in levels corresponded with briefly halting the motor regression, the observed increase was only transient and not associated with discernible beneficial neurological or psychiatric effects.

Late-onset Tay-Sachs disease.

Science.gov (United States)

Barritt, Andrew W; Anderson, Stuart J; Leigh, P Nigel; Ridha, Basil H

2017-10-01

We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of the arms. MR scan of the brain showed isolated cerebellar atrophy and formal neuropsychometric testing identified significant subclinical deficits in attention, processing speed and memory. We suspected a form of GM 2 gangliosidosis, and white cell enzyme analysis showed markedly reduced enzymatic activity of β-hexosaminidase A. Genetic testing subsequently revealed two heterozygous pathogenic mutations in the HEXA gene (c.1499delT p.(Leu500fs) and c.805G>A p.(Gly269Ser)), confirming the very rare diagnosis of adult-onset Tay-Sachs disease. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population

Directory of Open Access Journals (Sweden)

Anaita Udwadia-Hegde MD, DCH, MRCPCH

2017-01-01

Full Text Available Background: Juvenile Tay-Sachs disease is rarer than other forms of Tay-Sachs disease and is usually seen in children between the age of 2 and 10 years. Pyrimethamine as a pharmacological chaperone was used to increase β-hexosaminidase A activity in this patient. Patient: We describe a patient with Tay-Sachs disease from the Indian population, a juvenile case who presented with developmental regression starting at the age of three, initially with motor followed by language regression. She is currently incapacitated with severe behavioral issues. Conclusion: This brief communication gives an insight into the efficacy of pharmacological chaperones. It also describes two unreported mutations in hexosaminidase A gene from the Indian population. After commencing Pyrimethamine, though initial benefits with increase in levels corresponded with briefly halting the motor regression, the observed increase was only transient and not associated with discernible beneficial neurological or psychiatric effects.

Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

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Colaianni, Alessandra; Chandrasekharan, Subhashini; Cook-Deegan, Robert

2010-04-01

Genetic testing for Tay-Sachs and Canavan disease is particularly important for Ashkenazi Jews, because both conditions are more frequent in that population. This comparative case study was possible because of different patenting and licensing practices. The role of DNA testing differs between Tay-Sachs and Canavan diseases. The first-line screening test for Tay-Sachs remains an enzyme activity test rather than genotyping. Genotyping is used for preimplantation diagnosis and confirmatory testing. In contrast, DNA-based testing is the basis for Canavan screening and diagnosis. The HEXA gene for Tay-Sachs was cloned at the National Institutes of Health, and the gene was patented but has not been licensed. The ASPA gene for Canavan disease was cloned and patented by Miami Children's Hospital. Miami Children's Hospital did not inform family members and patient groups that had contributed to the gene discovery that it was applying for a patent, and pursued restrictive licensing practices when a patent issued in 1997. This led to intense controversy, litigation, and a sealed, nonpublic 2003 settlement that apparently allowed for nonexclusive licensing. A survey of laboratories revealed a possible price premium for ASPA testing, with per-unit costs higher than for other genetic tests in the Secretary's Advisory Committee on Genetics, Health, and Society case studies. The main conclusion from comparing genetic testing for Tay-Sachs and Canavan diseases, however, is that patenting and licensing conducted without communication with patients and advocates cause mistrust and can lead to controversy and litigation, a negative model to contrast with the positive model of patenting and licensing for genetic testing of cystic fibrosis.

The effect of a combined glenoid and Hill-Sachs defect on glenohumeral stability: a biomechanical cadaveric study using 3-dimensional modeling of 142 patients.

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Arciero, Robert A; Parrino, Anthony; Bernhardson, Andrew S; Diaz-Doran, Vilmaris; Obopilwe, Elifho; Cote, Mark P; Golijanin, Petr; Mazzocca, Augustus D; Provencher, Matthew T

2015-06-01

Bone loss in anterior glenohumeral instability occurs on both the glenoid and the humerus; however, existing biomechanical studies have evaluated glenoid and humeral head defects in isolation. Thus, little is known about the combined effect of these bony lesions in a clinically relevant model on glenohumeral stability. The purpose of this study was to determine the biomechanical efficacy of a Bankart repair in the setting of bipolar (glenoid and humeral head) bone defects determined via computer-generated 3-dimensional (3D) modeling of 142 patients with recurrent anterior shoulder instability. The null hypothesis was that adding a bipolar bone defect will have no effect on glenohumeral stability after soft tissue Bankart repair. Controlled laboratory study. A total of 142 consecutive patients with recurrent anterior instability were analyzed with 3D computed tomography scans. Two Hill-Sachs lesions were selected on the basis of volumetric size representing the 25th percentile (0.87 cm(3); small) and 50th percentile (1.47 cm(3); medium) and printed in plastic resin with a 3D printer. A total of 21 cadaveric shoulders were evaluated on a custom shoulder-testing device permitting 6 degrees of freedom, and the force required to translate the humeral head anteriorly 10 mm at a rate of 2.0 mm/s with a compressive load of 50 N was determined at 60° of glenohumeral abduction and 60° of external rotation. All Bankart lesions were made sharply from the 2- to 6-o'clock positions for a right shoulder. Subsequent Bankart repair with transosseous tunnels using high-strength suture was performed. Hill-Sachs lesions were made in the cadaver utilizing a plastic mold from the exact replica off the 3D printer. Testing was conducted in the following sequence for each specimen: (1) intact, (2) posterior capsulotomy, (3) Bankart lesion, (4) Bankart repair, (5) Bankart lesion with 2-mm glenoid defect, (6) Bankart repair, (7) Bankart lesion with 2-mm glenoid defect and Hill-Sachs lesion

Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

Science.gov (United States)

Sheth, Jayesh; Mistri, Mehul; Datar, Chaitanya; Kalane, Umesh; Patil, Shekhar; Kamate, Mahesh; Shah, Harshuti; Nampoothiri, Sheela; Gupta, Sarita; Sheth, Frenny

2014-01-01

Tay-Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52), resulting from the mutation in HEXA gene. Very little is known about the molecular pathology of TSD in Indian children except for a few mutations identified by us. The present study is aimed to determine additional mutations leading to Tay-Sachs disease in nine patients confirmed by the deficiency of β-hexosaminidase-A (C (D175A) and c.805G>C (p.G269R) in one case; and one small 1 bp deletion c.426delT (p.F142LfsX57) and one splice site mutation c.459+4A>C in the other two cases respectively. None of these mutations were detected in 100 chromosomes from healthy individuals of the same ethnic group. Three previously reported missense mutations, (i) c.532C>T (p.R178C), (ii) c.964G>T (p.D322Y), and (iii) c.1385A>T (p.E462V); two nonsense mutations (i) c.709C>T (p.Q237X) and (ii) c.1528C>T (p.R510X), one 4 bp insertion c.1277_1278insTATC (p.Y427IfsX5) and one splice site mutation c.459+5G>A were also identified in six cases. We observe from this study that novel mutations are more frequently observed in Indian patients with Tay-Sachs disease with clustering of ~ 73% of disease causing mutations in exons 5 to 12. This database can be used for a carrier rate screening in the larger population of the country.

Substrate reduction therapy in the infantile form of Tay-Sachs disease.

Science.gov (United States)

Bembi, B; Marchetti, F; Guerci, V I; Ciana, G; Addobbati, R; Grasso, D; Barone, R; Cariati, R; Fernandez-Guillen, L; Butters, T; Pittis, M G

2006-01-24

Substrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Based on the positive experience in Gaucher disease and experimental data in Tay-Sachs (TSD) and Sandhoff animal models, the authors investigated the clinical efficacy of SRT in two patients with infantile TSD. SRT could not arrest the patients' neurologic deterioration. However, a significant drug concentration in CSF as well as macrocephaly prevention were observed.

Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system.

Science.gov (United States)

Miklyaeva, Elena I; Dong, Weijia; Bureau, Alexandre; Fattahie, Roya; Xu, Yongqin; Su, Meng; Fick, Gordon H; Huang, Jing-Qi; Igdoura, Suleiman; Hanai, Nobuo; Gravel, Roy A

2004-03-19

Tay-Sachs disease is an autosomal recessive neurodegenerative disease resulting from a block in the hydrolysis of GM2 ganglioside, an intermediate in ganglioside catabolism. The mouse model of Tay-Sachs disease (Hexa -/-) has been described as behaviorally indistinguishable from wild type until at least 1 year of age due to a sialidase-mediated bypass of the metabolic defect that reduces the rate of GM2 ganglioside accumulation. In this study, we have followed our mouse model to over 2 years of age and have documented a significant disease phenotype that is reminiscent of the late onset, chronic form of human Tay-Sachs disease. Onset occurs at 11-12 months of age and progresses slowly, in parallel with increasing storage of GM2 ganglioside. The disease is characterized by hind limb spasticity, weight loss, tremors, abnormal posture with lordosis, possible visual impairment, and, late in the disease, muscle weakness, clasping of the limbs, and myoclonic twitches of the head. Immunodetection of GM2 ganglioside showed that storage varies widely in different regions, but is most intense in pyriform cortex, hippocampus (CA3 field, subiculum), amygdala, hypothalamus (paraventricular supraoptic, ventromedial and arcuate nuclei, and mammilary body), and the somatosensory cortex (layer V) in 1- to 2-year-old mutant mice. We suggest that the Tay-Sachs mouse model is a phenotypically valid model of disease and may provide for a reliable indicator of the impact of therapeutic strategies, in particular geared to the late onset, chronic form of human Tay-Sachs disease.

Characterization of two Turkish beta-hexosaminidase mutations causing Tay-Sachs disease.

Science.gov (United States)

Ozkara, Hatice Asuman; Sandhoff, Konrad

2003-04-01

Two homoallelic mutations have recently been identified in the alpha-subunit of hexosaminidase A (EC 3.2.1.52) causing the infantile form of Tay-Sachs disease in Turkish patients. Both of these mutations, a 12 bp deletion (1096-1107 or 1098-1108 or 1099-1109) in exon 10 and a point mutation (G1362 to A, Gly454 to Asp) in exon 12, are located in the catalytic domain of the hexosaminidase alpha-chain. In order to determine whether these mutations affect the function of the catalytic domain or result in an instable protein, both mutant cDNAs were overexpressed in COS-1 cells. As judged by Western blotting, transfections of wild-type cDNA produced pro-alpha-chain and mature alpha-chain in parallel with a fivefold increase in cellular hexosaminidase activity using the synthetic substrate 4-methylumbelliferyl beta-N-acetylglucosamine 6-sulfate (MUGS). However, both mutants produced only pro-alpha-chains, although no mature form or detectable hexosaminidase activity towards two different synthetic substrates was observed. These data are consistent with the biochemical phenotype of infantile Tay-Sachs disease. We conclude that the overexpressed mutant pro-alpha-chains were misfolded and could not undergo further proteolytic processing to the active form of the enzyme in the lysosome.

Matter sources for a null big bang

International Nuclear Information System (INIS)

Bronnikov, K A; Zaslavskii, O B

2008-01-01

We consider the properties of stress-energy tensors compatible with a null big bang, i.e., cosmological evolution starting from a Killing horizon rather than a singularity. For Kantowski-Sachs cosmologies, it is shown that if matter satisfies the null energy condition, then (i) regular cosmological evolution can only start from a Killing horizon, (ii) matter is absent at the horizon and (iii) matter can only appear in the cosmological region due to interaction with vacuum. The latter is understood phenomenologically as a fluid whose stress tensor is insensitive to boosts in a particular direction. We also argue that matter is absent in a static region beyond the horizon. All this generalizes the observations recently obtained for a mixture of dust and a vacuum fluid. If, however, we admit the existence of phantom matter, its certain special kinds (with the parameter w ≤ -3) are consistent with a null big bang without interaction with vacuum (or without vacuum fluid at all). Then in the static region there is matter with w ≥ -1/3. Alternatively, the evolution can begin from a horizon in an infinitely remote past, leading to a scenario combining the features of a null big bang and an emergent universe

Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease

Directory of Open Access Journals (Sweden)

Jayesh Sheth

2014-01-01

Full Text Available Tay–Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52, resulting from the mutation in HEXA gene. Very little is known about the molecular pathology of TSD in Indian children except for a few mutations identified by us. The present study is aimed to determine additional mutations leading to Tay–Sachs disease in nine patients confirmed by the deficiency of β-hexosaminidase-A (C (D175A and c.805G>C (p.G269R in one case; and one small 1 bp deletion c.426delT (p.F142LfsX57 and one splice site mutation c.459+4A>C in the other two cases respectively. None of these mutations were detected in 100 chromosomes from healthy individuals of the same ethnic group. Three previously reported missense mutations, (i c.532C>T (p.R178C, (ii c.964G>T (p.D322Y, and (iii c.1385A>T (p.E462V; two nonsense mutations (i c.709C>T (p.Q237X and (ii c.1528C>T (p.R510X, one 4 bp insertion c.1277_1278insTATC (p.Y427IfsX5 and one splice site mutation c.459+5G>A were also identified in six cases. We observe from this study that novel mutations are more frequently observed in Indian patients with Tay–Sachs disease with clustering of ~73% of disease causing mutations in exons 5 to 12. This database can be used for a carrier rate screening in the larger population of the country.

ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease.

Science.gov (United States)

2005-10-01

Tay-Sachs disease (TSD) is a severe progressive neurologic disease that causes death in early childhood. Carrier screening, should be offered before pregnancy to individuals and couples at high-risk, including those of Ashkenazi Jewish, French-Canadian, or Cajun descent and those with a family history consistent with TSD. If both partners are determined to be carriers of TSD, genetic counseling and prenatal diagnosis should be offered.

Doença de Tay-Sachs em criança de raça negra Tay-Sachs disease in a Negro child

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Sérgio Rosemberg

1970-12-01

Full Text Available É relatado um caso de doença de Tay-Sachs em criança da raça negra. O encontro desta entidade em indivíduos não judeus é bastante raro, sendo este o quinto caso descrito em criança negra. Os autores estudam alguns aspectos genéticos, chegando à conclusão de que o cálculo da freqüência do gene mutante é impossível devido ao pequeno número de casos e ao fato de que não há estimativas seguras quanto à taxa de nascimento de indivíduos negros na população, Em que pese o fato de o diagnóstico se assentar em bases puramente clínicas e anatômicas, prescindindo os autores de exames bioquímicos específicos, os dados apresentados são congruentes com os casos clássicos descritos na literatura.A case of Tay-Sachs diseases in a Negro child is reported. The occurrence of this disease in non-Jewish individuals is very rare and this is the fifth case of a Negro-child reported in the litterature. Some genetical aspects are studied and the authors conclude that the frequency calculation of the mutant gene is impossible due to the small number of cases and to the fact that there is reliable information regarding the rate of birth of Negro individuals in the general population. The diagnosis was based on ophtalmological and clinical data. No specific biochemical tests were performed but the data obtained are congruent with other cases reported in the litterature.

Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay-Sachs disease.

Science.gov (United States)

Hayase, Tomomi; Shimizu, Jun; Goto, Tamako; Nozaki, Yasuyuki; Mori, Masato; Takahashi, Naoto; Namba, Eiji; Yamagata, Takanori; Momoi, Mariko Y

2010-03-01

We report the case of a girl with Tay-Sachs disease who had convulsions and deteriorated rapidly after an upper respiratory infection at the age of 11 months. At the age of 16 months, her seizures became intractable and magnetic resonance imaging of the brain showed high signal intensity on T2-weighted images and marked swelling in the white matter and basal nucelei of the right hemisphere. Her seizures and right hemisphere lesion improved with glycerol and dexamethasone treatment. When dexamethasone was discontinued, her symptoms worsened and lesions later appeared in the left hemisphere. Her cerebrospinal fluid showed elevated levels of the cytokines TNF-alpha and IL-5. It is considered that inflammation contributes to disease progression in Tay-Sachs disease.

Towards N = 2 SUSY homogeneous quantum cosmology; Einstein-Yang-Mills systems

International Nuclear Information System (INIS)

Donets, E.E.; Tentyukov, M.N.; Tsulaya, M.M.

1998-01-01

The application of N = 2 supersymmetric Quantum Mechanics for the quantization of homogeneous systems coupled with gravity is discussed. Starting with the superfield formulation of N = 2 SUSY sigma-model, Hermitian self-adjoint expressions for quantum Hamiltonians and Lagrangians for any signature of a sigma-model metric are obtained. This approach is then applied to coupled SU (2) Einstein-Yang-Mills (EYM) systems in axially-symmetric Bianchi - I,II,VIII, IX, Kantowski-Sachs and closed Friedmann-Robertson-Walker cosmological models. It is shown that all these models admit the embedding into N = 2 SUSY sigma-model with the explicit expressions for superpotentials, being direct sums of gravitational and Yang-Mills (YM) parts. In addition, YM parts of superpotentials exactly coincide with the corresponding Chern-Simons terms. The spontaneous SUSY breaking, caused by YM instantons in EYM systems is discussed in a number of examples

Neuro-ophthalmology of late-onset Tay-Sachs disease (LOTS).

Science.gov (United States)

Rucker, J C; Shapiro, B E; Han, Y H; Kumar, A N; Garbutt, S; Keller, E L; Leigh, R J

2004-11-23

Late-onset Tay-Sachs disease (LOTS) is an adult-onset, autosomal recessive, progressive variant of GM2 gangliosidosis, characterized by involvement of the cerebellum and anterior horn cells. To determine the range of visual and ocular motor abnormalities in LOTS, as a prelude to evaluating the effectiveness of novel therapies. Fourteen patients with biochemically confirmed LOTS (8 men; age range 24 to 53 years; disease duration 5 to 30 years) and 10 age-matched control subjects were studied. Snellen visual acuity, contrast sensitivity, color vision, stereopsis, and visual fields were measured, and optic fundi were photographed. Horizontal and vertical eye movements (search coil) were recorded, and saccades, pursuit, vestibulo-ocular reflex (VOR), vergence, and optokinetic (OK) responses were measured. All patients showed normal visual functions and optic fundi. The main eye movement abnormality concerned saccades, which were "multistep," consisting of a series of small saccades and larger movements that showed transient decelerations. Larger saccades ended earlier and more abruptly (greater peak deceleration) in LOTS patients than in control subjects; these changes can be attributed to premature termination of the saccadic pulse. Smooth-pursuit and slow-phase OK gains were reduced, but VOR, vergence, and gaze holding were normal. Patients with late-onset Tay-Sachs disease (LOTS) show characteristic abnormalities of saccades but normal afferent visual systems. Hypometria, transient decelerations, and premature termination of saccades suggest disruption of a "latch circuit" that normally inhibits pontine omnipause neurons, permitting burst neurons to discharge until the eye movement is completed. These measurable abnormalities of saccades provide a means to evaluate the effects of novel treatments for LOTS.

Dismantling of the 904 Cell at the HAO/Sud Facility - 13466

Energy Technology Data Exchange (ETDEWEB)

Vaudey, C.E.; Crosnier, S. [AREVA Clean-Up BU, 1 route de la Noue 91196 - Gif-sur-Yvette (France); Renouf, M.; Gaspard, N. [AREVA Clean-Up BU, Site de La Hague - BV 35 - 50444 Beaumont Hague (France); Pinot, L. [AREVA D and D BU, Site de La Hague - 50444 Beaumont Hague (France)

2013-07-01

La Hague facility, in France, is the spent fuel recycling plant wherein a part of the fuel coming from some of the French, German, Belgian, Swiss, Dutch and Japanese nuclear reactors is reprocessed before being recycled in order to separate certain radioactive elements. The facility has been successively handled by the CEA (1962-1978), Cogema (1978-2006), and AREVA NC (since 2006). La Hague facility is composed of 3 production units: The UP2-400 production unit started to be operated in 1966 for the reprocessing of UNGG metal fuel. In 1976, following the dropout of the graphite-gas technology by EDF, an HAO workshop to reprocess the fuel from the light water reactors is affiliated and then stopped in 2003. - UP2-400 is partially stopped in 2002 and then definitely the 1 January 2004 and is being dismantled - UP2-800, with the same capacity than UP3, started to be operated in 1994 and is still in operation. And UP3 - UP3 was implemented in 1990 with an annual reprocessing capacity of 800 tons of fuel and is still in operation The combined licensed capacity of UP2-800 and UP3 is 1,700 tons of used fuel. (authors)

Atypical presentation of late-onset Tay-Sachs disease.

Science.gov (United States)

Deik, Andres; Saunders-Pullman, Rachel

2014-05-01

Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity. We describe a 53-year-old woman who presented with adult-onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable etiology. Development of cerebellar ataxia in mid-life prompted reassessment. Beta-hexosaminidase A quantification assay demonstrated absence of the isozyme. Genetic testing identified compound heterozygous mutations in the HEXA gene, confirming the diagnosis of LOTS. The phenotypic spectrum of LOTS includes motor neuronopathy, ataxia, choreoathetosis, neuropathy, and psychiatric symptoms in various combinations. This patient highlights the emergence of different clinical features over many years and emphasizes the need to consider LOTS in the differential diagnosis of progressive muscular atrophy. Copyright © 2013 Wiley Periodicals, Inc.

Generalized Bondi-Sachs equations for characteristic formalism of numerical relativity

Science.gov (United States)

Cao, Zhoujian; He, Xiaokai

2013-11-01

The Cauchy formalism of numerical relativity has been successfully applied to simulate various dynamical spacetimes without any symmetry assumption. But discovering how to set a mathematically consistent and physically realistic boundary condition is still an open problem for Cauchy formalism. In addition, the numerical truncation error and finite region ambiguity affect the accuracy of gravitational wave form calculation. As to the finite region ambiguity issue, the characteristic extraction method helps much. But it does not solve all of the above issues. Besides the above problems for Cauchy formalism, the computational efficiency is another problem. Although characteristic formalism of numerical relativity suffers the difficulty from caustics in the inner near zone, it has advantages in relation to all of the issues listed above. Cauchy-characteristic matching (CCM) is a possible way to take advantage of characteristic formalism regarding these issues and treat the inner caustics at the same time. CCM has difficulty treating the gauge difference between the Cauchy part and the characteristic part. We propose generalized Bondi-Sachs equations for characteristic formalism for the Cauchy-characteristic matching end. Our proposal gives out a possible same numerical evolution scheme for both the Cauchy part and the characteristic part. And our generalized Bondi-Sachs equations have one adjustable gauge freedom which can be used to relate the gauge used in the Cauchy part. Then these equations can make the Cauchy part and the characteristic part share a consistent gauge condition. So our proposal gives a possible new starting point for Cauchy-characteristic matching.

GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).

Science.gov (United States)

Karimzadeh, Parvaneh; Jafari, Narjes; Nejad Biglari, Habibeh; Jabbeh Dari, Sayena; Ahmad Abadi, Farzad; Alaee, Mohammad-Reza; Nemati, Hamid; Saket, Sasan; Tonekaboni, Seyed Hasan; Taghdiri, Mohammad-Mahdi; Ghofrani, Mohammad

2014-01-01

GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay-Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB. Patients who were diagnosed withGM2-Gangliosidosis in the Neurology Department of Mofid Children's Hospital in Tehran, Iran from October 2009 to February 2014were included in our study. The disorder was confirmed by neurometabolic and enzyme level detection of hexosaminidases A, B, and AB in reference to Wagnester Laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 9 patients with Sandhoff disease and 9 with Tay Sachs disease. 83% of our patients were the offspring of consanguineous marriages. All of them had a developmental disorder as a chief complaint. 38%of patients had a history of developmental delay or regression and 22% had seizures. The patients with Sandhoff and Tay Sachs disease were followed for approximately 5 years and the follow-up showed all patients were bedridden or had expired due to refractory seizures, pneumonia aspiration, or swallowing disorders. Neuro-imaging findings included bilateral thalamic involvement, brain atrophy, and hypo myelination in near half of our patients (48%). According to the results of this study, we suggest that cherry-red spots, hyperacusis, refractory seizures, and relative parents in children with developmental delay and/or regression should be considered for assessment of GM2-Gangliosidosis disease.

Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease

Energy Technology Data Exchange (ETDEWEB)

Proia, R.L.; Yamanaka, S.; Johnson, M.D. [and others

1994-09-01

Tay-Sachs disease, the prototype of the G{sub M2} gangliosidoses, is a catastrophic neurodegenerative disorder of infancy. The disease is caused by mutations in the HEXA gene resulting in an absence of the lysosomal enzyme, {beta}-hexosaminidase A. As consequence of the enzyme deficiency, G{sub M2} ganglioside accumulates progressively, beginning early in fetal life, to excessive amounts in the central nervous system (CNS). Rapid mental and motor deterioration starting in the first year of life leads to death by 2 to 4 years of age. Through the targeted disruption of the Hexa gene in embryonic stem cells, we have produced mice with biochemical and neuropathologic features of Tay-Sachs disease. The mutant mice exhibited less than 1% of normal {beta}-hexosaminidase A activity and accumulated G{sub M2} ganglioside in their CNS in an age-dependent manner. The accumulated ganglioside was stored in neurons as membranous cytoplasmic bodies characteristically found in the neurons of Tay-Sachs disease patients. At three to five months of age the mutant mice showed no apparent defects in motor or memory function. These {beta}-hexosaminidase A deficient mice should be useful for devising strategies to introduce functional enzymes and genes into the CNS. This model may also be valuable for studying the biochemical and pathologic changes occurring during the course of the disease.

Shock absorption of below-knee prostheses : A comparison between the SACH and the Multiflex foot

NARCIS (Netherlands)

van Leeuwen, J. L.; Speth, L. A W M; Daanen, H. A M

1990-01-01

Shock waves were measured during walking on a treadmill on the metal tube of a below-knee KBM prosthesis, provided either with a SACH foot or with a Multiflex foot. Accelerations were measured in the axial direction and the dorso-ventral direction, about 160 mm proximal to the sole of the shoe. The

Molecular characterization of a novel HEXA mutation at the +3 position of intron 8 in a Tay-Sachs disease patient

Energy Technology Data Exchange (ETDEWEB)

Richard, M.; Triggs-Raine, B. [Univ. of Manitoba, Winnipeg (Canada); Natowicz, M. [E.K. Shriver Center, Waltham, MA (United States)

1994-09-01

Tay-Sachs disease is an autosomal recessive lysosomal storage disorder resulting from mutations in the HEXA gene that cause a deficiency in the activity of that enzyme {beta}-hexosaminidase A (Hex A). This deficiency leads to the build-up of G{sub M2} ganglioside, resulting in neurodegeneration and death. Biochemical analysis of a non-Jewish patient with a late-infantile form of Tay-Sachs disease revealed a substantial level of Hex A activity (38.4%) when 4-MUG was used as the substrate. However, when a substrate (4-MUGS) specific for the {alpha}-subunit of Hex A ({alpha}{beta}) was used, almost no activity was detected in the HEXA gene of the patient using SSCP analysis followed by sequencing. The first mutation, a G533A substitution in exon 5, is previously described and associated with the B1 form of Tay-Sachs disease. The second mutation is a novel a-to-g base change at the +3 position of intron 8. This was confirmed using the AIRS method, whereby a MaeIII site was created in the presence of the mutation. Normal and patient mRNA was reverse transcribed and exons 7 to 9 were PCR-amplified from the cDNA. An abnormally sized amplification product detected only in the patient cDNA was sequenced; exon 8 had been deleted and exons 7 and 9 were spliced together. A substantial level of normally-sized PCR product was also detected in the patient`s cDNA. Experiments are in progress to determine if this is produced from the allele harboring the G533A mutation. Given that previous mutations of this type have been associated with 97-100% abnormal splicing, this mutation is likely to be the cause, together with the G533A mutation, of Tay-Sachs disease in this patient.

Integrated Sachs-Wolfe effect in a quintessence cosmological model: Including anisotropic stress of dark energy

International Nuclear Information System (INIS)

Wang, Y. T.; Xu, L. X.; Gui, Y. X.

2010-01-01

In this paper, we investigate the integrated Sachs-Wolfe effect in the quintessence cold dark matter model with constant equation of state and constant speed of sound in dark energy rest frame, including dark energy perturbation and its anisotropic stress. Comparing with the ΛCDM model, we find that the integrated Sachs-Wolfe (ISW)-power spectrums are affected by different background evolutions and dark energy perturbation. As we change the speed of sound from 1 to 0 in the quintessence cold dark matter model with given state parameters, it is found that the inclusion of dark energy anisotropic stress makes the variation of magnitude of the ISW source uncertain due to the anticorrelation between the speed of sound and the ratio of dark energy density perturbation contrast to dark matter density perturbation contrast in the ISW-source term. Thus, the magnitude of the ISW-source term is governed by the competition between the alterant multiple of (1+3/2xc-circumflex s 2 ) and that of δ de /δ m with the variation of c-circumflex s 2 .

Mechanism of interrupted saccades in patients with late-onset Tay-Sachs disease.

Science.gov (United States)

Optican, Lance M; Rucker, Janet C; Keller, Edward L; Leigh, R John

2008-01-01

In late-onset Tay-Sachs disease (LOTS), saccades are interrupted by one or more transient decelerations. Some saccades reaccelerate and continue on before eye velocity reaches zero, even in darkness. Intervals between successive decelerations are not regularly spaced. Peak decelerations of horizontal and vertical components of oblique saccades in LOTS is more synchronous than those in control subjects. We hypothesize that these decelerations are caused by dysregulation of the fastigial nuclei (FN) of the cerebellum, which fire brain stem inhibitory burst neurons (IBNs).

Tay-Sachs disease: current perspectives from Australia.

Science.gov (United States)

Lew, Raelia M; Burnett, Leslie; Proos, Anné L; Delatycki, Martin B

2015-01-01

Tay-Sachs disease (TSD) is a fatal, recessively inherited neurodegenerative condition of infancy and early childhood. Although rare in most other populations, the carrier frequency is one in 25 in Ashkenazi Jews. Australian high-school-based TSD preconception genetic screening programs aim to screen, educate, and optimize reproductive choice for participants. These programs have demonstrated high uptake, low psychological morbidity, and have been shown to result in fewer than expected Jewish TSD-affected births over 18 years of operation. The majority of Jewish individuals of reproductive age outside of the high school screening program setting in Australia have not accessed screening. Recent recommendations advocate supplementing the community high school screening programs with general practitioner- and obstetrician-led genetic screening of Ashkenazi Jewish individuals for TSD and other severe recessive diseases for which this group is at risk. Massively parallel DNA sequencing is expected to become the testing modality of choice over the coming years.

Hill-Sachs lesion location: does it play a role in engagement?

Energy Technology Data Exchange (ETDEWEB)

Gyftopoulos, Soterios; Wang, Annie; Babb, James [NYU Langone Medical Center, Department of Radiology, New York, NY (United States)

2015-08-15

To see if there is an association between engagement on physical examination (PE) and the location of the Hill-Sachs lesion (HSL) as assessed by the modified biceps angle. Sixty-two patients with a history of anterior shoulder dislocation, who underwent preoperative MRI and arthroscopy at our institution and were tested for engagement on PE, were collected. Two musculoskeletal radiologists reviewed the MR studies, noting the presence of an HSL and documenting the location of the HSL with the modified biceps angle. Statistical analysis included the Mann-Whitney (MW) test and ROC (receiver-operating characteristic) curve. Of 62 patients, there were 58 males and 4 females with a mean age of 30 (range 18-59 years). Twenty patients demonstrated engagement on PE, while 42 did not. All patients had evidence of an HSL on MRI and arthroscopy. The mean biceps angle for the engaging group was 151.5 ± 13.9 , and 142.4 ± 17.3 for the non-engaging group. The biceps angle was statistically significantly higher among patients who had engagement compared to those who did not (p = 0.027). Overall, diagnostic accuracy was highest for a biceps angle >149 , which resulted in a sensitivity of 70 % and specificity of 67 %. The modified biceps angle, as measured on MRI, was significantly higher in patients who demonstrated engagement on physical examination than in those who did not. This supports the theory that the location of the Hill-Sachs lesion may play a role in engagement and may be its most important characteristic when determining its significance. (orig.)

COR1 Engineering Test Unit Measurements at the NCAR/HAO Vacuum Tunnel Facility, October-November 2002

Science.gov (United States)

Thompson, William

2002-01-01

The Engineering Test Unit (ETU) of COR1 was made in two configurations. The first configuration, ETU-1, was for vibration testing, while the second, ETU-2, was for optical testing. This is a report on the optical testing performed on ETU-2 at the NCAR/HAO Vacuum Tunnel Facility during the months of October and November, 2002. This was the same facility used to test the two previous breadboard models. In both configurations, the first two tube sections were complete, with all optical elements aligned. The vibration model ETU-1 had the remaining tube sections attached, with mass models for the remaining optics, for the various mechanisms, and for the focal plane assembly. It was then converted into the optical model ETU-2 by removing tube sections 3 to 5, and mounting the remaining optics on commercial mounts. (The bandpass filter was also installed into tube 2, which had been replaced in ETU-1 by a mass model, so that pre- and post-vibration optical measurements could be made.) Doublet 2 was installed in a Newport LP-2 carrier, and aligned to the other optics in the first two tube sections. The LP-2 adjustment screws were then uralened so that the alignment could be maintained during shipping. Because neither the flight polarizer nor Hollow Core Motor were available, they were simulated by a commercial polarizer and rotational mount, both from Oriel corporation. The Oriel rotational stage was not designed for vacuum use, but it was determined after consultation with the company, and lab testing, that the stage could be used in the moderate vacuum conditions at the NCAR/HAO facility. The shutter and focal plane assembly were simulated with the same camera used for the previous two breadboard tests. The focal plane mask was simulated with a plane of BK7 glass with a mask glued on, using the same procedure as for the Lyot spot on Doublet 1, and mounted in an adjustable LP-2 carrier. Two masks were made, one made to the precise specifications of the optical design, the

Theoretical investigation of structure and stability of molecules and ions HAO2, HAS2, HSAO and HOAS with 16 valent electrons (A = B, Al, C+, Si+)

International Nuclear Information System (INIS)

Zyubina, T.S.; Charkin, O.P.

1991-01-01

Using several basic sets and taking into consideration electron correlation in the framework of MP3 approximation, non-empiric calculations of the structure and stability of HAO 2 , HAS 2 , HOAS, HSAO molecules and ions with 16 valent electrons (A = B, Al, C + , Si + ) were made. Similarity of OAS, AO 2 , AS 2 (A = B - , Al - , C, Si) molecules and ions to proton was ascertained

Serial MR imaging and 1H-MR spectroscopy in monozygotic twins with Tay-Sachs disease.

Science.gov (United States)

Imamura, A; Miyajima, H; Ito, R; Orii, K O

2008-10-01

Four-year-old monozygotic female twins with early onset Tay-Sachs disease are described. The sisters showed similar slowly progressive clinical symptoms and deterioration, however the younger sister also demonstrated intractable myoclonus in the right leg. The serial MR images and (1)H-MR spectroscopy of the brain were obtained in both twins. MR images showed high intensity on T (2)-weighted image in the bilateral white matter, however there were no signal changes in the basal ganglia and thalamus during any of the phases. The ratio of N-acetylaspartate (NAA)/creatine (Cr) was decreased in the both white matter lesions and the corpus striatum, and that of myoinositol (mI)/Cr was increased in the damaged white matter on MR spectroscopy. The elevation of the lactate peak was clearly demonstrated in the left basal ganglia of the younger sister; however it was not shown in cerebral lesions of the elder sister. Changes in metabolites on MR spectroscopy were closely linked to the respective clinical features of each twin. Follow-up examination by (1)H-MR spectroscopy is useful for the evaluation of neuronal changes in children with Tay-Sachs disease.

Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.

Science.gov (United States)

Lew, Raelia M; Burnett, Leslie; Proos, Anné L; Barlow-Stewart, Kristine; Delatycki, Martin B; Bankier, Agnes; Aizenberg, Harry; Field, Michael J; Berman, Yemima; Fleischer, Ronald; Fietz, Michael

2015-03-01

Internationally, Tay-Sachs disease (TSD) preconception screening of Ashkenazi Jewish (AJ) individuals and couples has led to effective primary prevention of TSD. In Australia, adolescent preconception genetic screening programs operate mainly in Jewish community high schools. These existing programs offer an effective means of primary prevention of TSD, are cost effective and safe. However, in the broader Australian community TSD screening is not systematically performed and cases still occur in unscreened AJ individuals. In order to improve the effectiveness of Australian screening, there is a need for definitive guidelines for healthcare professionals to facilitate extension of the proven benefits of preconception TSD screening to all AJ individuals at risk. We performed a systematic review of the relevant literature relating to AJ pre-conception and antenatal screening for TSD. The evidence was assessed using an established National Health and Medical Research Council evidence grading system. Evaluations of efficacy of TSD screening programs design and execution, cost-benefit and cost-utility health economic evaluation, and population outcomes were undertaken. The results have been used to propose a model for universal AJ TSD preconception and antenatal screening for the primary care setting. © 2014 The Authors. Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

Multimedia messages in genetics: design, development, and evaluation of a computer-based instructional resource for secondary school students in a Tay Sachs disease carrier screening program.

Science.gov (United States)

Gason, Alexandra A; Aitken, MaryAnne; Delatycki, Martin B; Sheffield, Edith; Metcalfe, Sylvia A

2004-01-01

Tay Sachs disease is a recessively inherited neurodegenerative disorder, for which carrier screening programs exist worldwide. Education for those offered a screening test is essential in facilitating informed decision-making. In Melbourne, Australia, we have designed, developed, and evaluated a computer-based instructional resource for use in the Tay Sachs disease carrier screening program for secondary school students attending Jewish schools. The resource entitled "Genetics in the Community: Tay Sachs disease" was designed on a platform of educational learning theory. The development of the resource included formative evaluation using qualitative data analysis supported by descriptive quantitative data. The final resource was evaluated within the screening program and compared with the standard oral presentation using a questionnaire. Knowledge outcomes were measured both before and after either of the educational formats. Data from the formative evaluation were used to refine the content and functionality of the final resource. The questionnaire evaluation of 302 students over two years showed the multimedia resource to be equally effective as an oral educational presentation in facilitating participants' knowledge construction. The resource offers a large number of potential benefits, which are not limited to the Tay Sachs disease carrier screening program setting, such as delivery of a consistent educational message, short delivery time, and minimum financial and resource commitment. This article outlines the value of considering educational theory and describes the process of multimedia development providing a framework that may be of value when designing genetics multimedia resources in general.

Regional neuro axonal injury detected by 1H 3 Tesla spectroscopic imaging in late onset Tay sachs

International Nuclear Information System (INIS)

Gagoski, Borjan Aleksandar; Eichler, Florian S.

2010-01-01

Late-onset Tay Sachs (LOTS) is a rare lysosomal storage disorder resulting from mutations of the subunit of the lysosomal enzyme β-hexosaminidase A, which catalyzes the degradation of GM2 ganglioside. We have applied the fast encoding spectroscopic imaging technique to LOTS patients to further investigate the neuro degenerative consequences of this disease.(Author)

Tay-Sachs disease: progression of changes on neuroimaging in four cases

International Nuclear Information System (INIS)

Fukumizu, M.; Yoshikawa, H.; Kurokawa, T.; Takashima, S.; Sakuragawa, N.

1992-01-01

The neuroradiological findings in four patients with Tay-Sachs disease are described in three phases of the clinical course. The basal ganglia and cerebral white matter show low density on computed tomography and high signal intensity on T2-weighted magnetic resonance imaging in the initial phase. The caudate nuclei are characteristically enlarged and protrude into the lateral ventricles in the first and second phases. The cerebral white matter shows low density on the CT which varies in extent from the second to third phases, and the whole brain becomes atrophic in the last phase. Thus, central nervous system involvement in the disease may begin in basal ganglia as well as in cerebral white matter. (orig.)

Tay-Sachs disease: progression of changes on neuroimaging in four cases

Energy Technology Data Exchange (ETDEWEB)

Fukumizu, M; Yoshikawa, H; Kurokawa, T [National Center Hospital for Mental, Nervous, and Muscular Disorders, Tokyo (Japan). Div. of Child Neurology; Takashima, S [National Inst. of Neuroscience, National Center of Neurology and Psychiatry, Tokyo (Japan). Div. of Mental Retardation and Birth Defect Research; Sakuragawa, N [National Inst. of Neuroscience, National Center of Neurology and Psychiatry, Tokyo (Japan). Div. of Inherited Metabolic Disease

1992-11-01

The neuroradiological findings in four patients with Tay-Sachs disease are described in three phases of the clinical course. The basal ganglia and cerebral white matter show low density on computed tomography and high signal intensity on T2-weighted magnetic resonance imaging in the initial phase. The caudate nuclei are characteristically enlarged and protrude into the lateral ventricles in the first and second phases. The cerebral white matter shows low density on the CT which varies in extent from the second to third phases, and the whole brain becomes atrophic in the last phase. Thus, central nervous system involvement in the disease may begin in basal ganglia as well as in cerebral white matter. (orig.).

The theory of stochastic cosmological lensing

Energy Technology Data Exchange (ETDEWEB)

Fleury, Pierre; Uzan, Jean-Philippe [Institut d' Astrophysique de Paris, UMR 7095 du CNRS, 98 bis Bd Arago, 75014 Paris (France); Larena, Julien, E-mail: fleury@iap.fr, E-mail: j.larena@ru.ac.za, E-mail: uzan@iap.fr [Department of Mathematics, Rhodes University, Grahamstown 6140 (South Africa)

2015-11-01

On the scale of the light beams subtended by small sources, e.g. supernovae, matter cannot be accurately described as a fluid, which questions the applicability of standard cosmic lensing to those cases. In this article, we propose a new formalism to deal with small-scale lensing as a diffusion process: the Sachs and Jacobi equations governing the propagation of narrow light beams are treated as Langevin equations. We derive the associated Fokker-Planck-Kolmogorov equations, and use them to deduce general analytical results on the mean and dispersion of the angular distance. This formalism is applied to random Einstein-Straus Swiss-cheese models, allowing us to: (1) show an explicit example of the involved calculations; (2) check the validity of the method against both ray-tracing simulations and direct numerical integration of the Langevin equation. As a byproduct, we obtain a post-Kantowski-Dyer-Roeder approximation, accounting for the effect of tidal distortions on the angular distance, in excellent agreement with numerical results. Besides, the dispersion of the angular distance is correctly reproduced in some regimes.

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

Science.gov (United States)

Neudorfer, Orit; Pastores, Gregory M; Zeng, Bai J; Gianutsos, John; Zaroff, Charles M; Kolodny, Edwin H

2005-02-01

The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Tay-Sachs disease, a clinical variant of the GM2-gangliosidoses. A comprehensive physical examination, including neurological assessments, was performed to establish the current disease pattern and severity. In addition, the patients' past medical histories were reviewed. The patients' alpha-subunit mutations (beta-Hexosaminidase A genotype) were determined and correlated with their corresponding clinical findings and disease course. Twenty-one patients (current mean age: 27.0 years; range: 14-47 years) were identified. The pedigree revealed a relative with the "classic" infantile or late-onset form of Tay-Sachs disease in four (out of 18) unrelated families. The patients were predominantly male (15/21 individuals) and of Ashkenazi Jewish ancestry (15/18 families). Mean age at onset was 18.1 years; balance problems and difficulty climbing stairs were the most frequent presenting complaints. In several cases, the diagnosis was delayed (mean age at diagnosis: 27.0 years). Analysis of the beta-hex A gene revealed the G269S mutation as the most common disease allele; found in homozygosity (N = 1) or heterozygosity (N = 18; including 2 sib pairs). Disease onset (age 36 years) was delayed and progression relatively slower in the homozygous G269S patient. Two siblings (ages 28 and 31 years), of non-Jewish ancestry, were compound heterozygotes (TATC1278/W474C); their clinical course is dominated by psychiatric problems. Brain imaging studies revealed marked cerebellar atrophy in all patients (N = 18) tested, regardless of disease stage. Late-onset Tay-Sachs disease is an infrequent disorder and the diagnosis is often missed or delayed (by approximately 8 years). Early on, the majority of patients develop signs of either cerebellar or anterior motor neuron involvement. Affected individuals may also develop psychotic episodes. In most cases, the later

Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.

Science.gov (United States)

Stepien, Karolina M; Lum, Su Han; Wraith, J Edmond; Hendriksz, Christian J; Church, Heather J; Priestman, David; Platt, Frances M; Jones, Simon; Jovanovic, Ana; Wynn, Robert

2017-12-07

Tay-Sachs disease is a rare metabolic disease caused by a deficiency of hexosaminidase A that leads to accumulation of GM2 gangliosides predominantly in neural tissue. Late-onset Tay-Sachs disease variant is associated with a higher level of residual HexA activity. Treatment options are limited, and there are a few described cases who have undergone haematopoietic stem cell transplantation (HSCT) with variable outcome.We describe a case of a 23-year-old male patient who presented with a long-standing tremor since 7 years of age. He had gait ataxia, a speech stammer and swallowing problems. His condition had had a static course apart from his tremor that had been gradually deteriorating. Because of the deterioration in his neurological function, the patient had an uneventful, matched-sibling donor bone marrow transplant at the age of 15 years. Eight years post-HSCT, at the age of 23, he retains full donor engraftment, and his white cell beta-HexA of 191 nmol/mg/h is comparable to normal controls (in-assay control = 187). He continues to experience some intentional tremor that is tolerable for daily life and nonprogressive since HSCT. HSCT is a potential treatment option which might arrest neurodegeneration in patients with LOTS.

On the structure and applications of the Bondi-Metzner-Sachs group

Science.gov (United States)

Alessio, Francesco; Esposito, Giampiero

This work is a pedagogical review dedicated to a modern description of the Bondi-Metzner-Sachs (BMS) group. Minkowski space-time has an interesting and useful group of isometries, but, for a generic space-time, the isometry group is simply the identity and hence provides no significant informations. Yet symmetry groups have important role to play in physics; in particular, the Poincaré group describing the isometries of Minkowski space-time plays a role in the standard definitions of energy-momentum and angular-momentum. For this reason alone it would seem to be important to look for a generalization of the concept of isometry group that can apply in a useful way to suitable curved space-times. The curved space-times that will be taken into account are the ones that suitably approach, at infinity, Minkowski space-time. In particular we will focus on asymptotically flat space-times. In this work, the concept of asymptotic symmetry group of those space-times will be studied. In the first two sections we derive the asymptotic group following the classical approach which was basically developed by Bondi, van den Burg, Metzner and Sachs. This is essentially the group of transformations between coordinate systems of a certain type in asymptotically flat space-times. In the third section the conformal method and the notion of “asymptotic simplicity” are introduced, following mainly the works of Penrose. This section prepares us for another derivation of the BMS group which will involve the conformal structure, and is thus more geometrical and fundamental. In the subsequent sections we discuss the properties of the BMS group, e.g. its algebra and the possibility to obtain as its subgroup the Poincaré group, as we may expect. The paper ends with a review of the BMS invariance properties of classical gravitational scattering discovered by Strominger, that are finding application to black hole physics and quantum gravity in the literature.

Tay-Sachs disease in Jacob sheep.

Science.gov (United States)

Torres, Paola A; Zeng, Bai Jin; Porter, Brian F; Alroy, Joseph; Horak, Fred; Horak, Joan; Kolodny, Edwin H

2010-12-01

Autopsy studies of four Jacob sheep dying within their first 6-8 months of a progressive neurodegenerative disorder suggested the presence of a neuronal storage disease. Lysosomal enzyme studies of brain and liver from an affected animal revealed diminished activity of hexosaminidase A (Hex A) measured with an artificial substrate specific for this component of β-hexosaminidase. Absence of Hex A activity was confirmed by cellulose acetate electrophoresis. Brain lipid analyses demonstrated the presence of increased concentrations of G(M2)-ganglioside and asialo-G(M2)-ganglioside. The hexa cDNA of Jacob sheep was cloned and sequenced revealing an identical number of nucleotides and exons as in human HexA and 86% homology in nucleotide sequence. A missense mutation was found in the hexa cDNA of the affected sheep caused by a single nucleotide change at the end of exon 11 resulting in skipping of exon 11. Transfection of normal sheep hexa cDNA into COS1 cells and human Hex A-deficient cells led to expression of Hex S but no increase in Hex A indicating absence of cross-species dimerization of sheep Hex α-subunit with human Hex β-subunits. Using restriction site analysis, the heterozygote frequency of this mutation in Jacob sheep was determined in three geographically separate flocks to average 14%. This large naturally occurring animal model of Tay-Sachs disease is the first to offer promise as a means for trials of gene therapy applicable to human infants. Copyright © 2010 Elsevier Inc. All rights reserved.

Crystal Structure of Human [Beta]-Hexosaminidase B: Understanding the Molecular Basis of Sandhoff and Tay-Sachs Disease

Energy Technology Data Exchange (ETDEWEB)

Mark, Brian L.; Mahuran, Don J.; Cherney, Maia M.; Zhao, Dalian; Knapp, Spencer; James, Michael N.G.

2010-12-01

In humans, two major {beta}-hexosaminidase isoenzymes exist: Hex A and Hex B. Hex A is a heterodimer of subunits {alpha} and {beta} (60% identity), whereas Hex B is a homodimer of {beta}-subunits. Interest in human {beta}-hexosaminidase stems from its association with Tay-Sachs and Sandhoff disease; these are prototypical lysosomal storage disorders resulting from the abnormal accumulation of G{sub M2}-ganglioside (G{sub M2}). Hex A degrades G{sub M2} by removing a terminal N-acetyl-D-galactosamine ({beta}-GalNAc) residue, and this activity requires the G{sub M2}-activator, a protein which solubilizes the ganglioside for presentation to Hex A. We present here the crystal structure of human Hex B, alone (2.4 {angstrom}) and in complex with the mechanistic inhibitors GalNAc-isofagomine (2.2 {angstrom}) or NAG-thiazoline (2.5 {angstrom}). From these, and the known X-ray structure of the G{sub M2}-activator, we have modeled Hex A in complex with the activator and ganglioside. Together, our crystallographic and modeling data demonstrate how {alpha} and {beta}-subunits dimerize to form either Hex A or Hex B, how these isoenzymes hydrolyze diverse substrates, and how many documented point mutations cause Sandhoff disease ({beta}-subunit mutations) and Tay-Sachs disease ({alpha}-subunit mutations).

Area density of localization-entropy II: double cone-localization and quantum origin of the Bondi-Metzner-Sachs symmetry

Energy Technology Data Exchange (ETDEWEB)

Schroer, Bert

2006-04-15

The holographic encoding is generalized to subalgebras of QFT localized in double cones. It is shown that as a result of this radically different spacetime encoding the modular group acts geometrically on the holographic image. As a result we obtain a formula for localization entropy which is identical to the previously derived formula for the wedge-localized subalgebra. The symmetry group in the holographic encoding turns out to be the Bondi-Metzner-Sachs group. (author)

Pathological alterations typical of human Tay-Sachs disease, in the retina of a deep-sea fish

Science.gov (United States)

Fishelson, L.; Delarea, Yacov; Galil, Bella S.

Micrographs of retinas from the deep-sea fish Cataetyx laticeps revealed visual cells containing membranous whorls in the ellipsoids of the inner segments resulting from stretching and modifications of the mitochondria membranes and their cristae. These pathological structures seem to be homologous to the whorls observed in retinas of human carriers of Tay-Sachs disease. This disease, a genetic disorder, is found in humans and some mammals. Our findings in fish suggest that the gene responsible can be found throughout the vertebrate evolutionary tree, possibly dormant in most taxa.

Serum Metabolomic Characterization of Liver Fibrosis in Rats and Anti-Fibrotic Effects of Yin-Chen-Hao-Tang

Directory of Open Access Journals (Sweden)

Hongyang Zhang

2016-01-01

Full Text Available Yin-Chen-Hao-Tang (YCHT is a famous Chinese medicine formula which has long been used in clinical practice for treating various liver diseases, such as liver fibrosis. However, to date, the mechanism for its anti-fibrotic effects remains unclear. In this paper, an ultra-performance liquid chromatography-time-of-flight mass spectrometry (UPLC-TOF-MS-based metabolomic study was performed to characterize dimethylnitrosamine (DMN-induced liver fibrosis in rats and evaluate the therapeutic effects of YCHT. Partial least squares-discriminant analysis (PLS-DA showed that the model group was well separated from the control group, whereas the YCHT-treated group exhibited a tendency to restore to the controls. Seven significantly changed fibrosis-related metabolites, including unsaturated fatty acids and lysophosphatidylcholines (Lyso-PCs, were identified. Moreover, statistical analysis demonstrated that YCHT treatment could reverse the levels of most metabolites close to the normal levels. These results, along with histological and biochemical examinations, indicate that YCHT has anti-fibrotic effects, which may be due to the suppression of oxidative stress and resulting lipid peroxidation involved in hepatic fibrogenesis. This study offers new opportunities to improve our understanding of liver fibrosis and the anti-fibrotic mechanisms of YCHT.

Spherically symmetric Einstein-aether perfect fluid models

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Coley, Alan A.; Latta, Joey [Department of Mathematics and Statistics, Dalhousie University, Halifax, Nova Scotia, B3H 3J5 (Canada); Leon, Genly [Instituto de Física, Pontificia Universidad Católica de Valparaíso, Casilla 4950, Valparaíso (Chile); Sandin, Patrik, E-mail: aac@mathstat.dal.ca, E-mail: genly.leon@ucv.cl, E-mail: patrik.sandin@aei.mpg.de, E-mail: lattaj@mathstat.dal.ca [Max-Planck-Institut für Gravitationsphysik (Albert-Einstein-Institut), Am Mühlenberg 1, D-14476 Potsdam (Germany)

2015-12-01

We investigate spherically symmetric cosmological models in Einstein-aether theory with a tilted (non-comoving) perfect fluid source. We use a 1+3 frame formalism and adopt the comoving aether gauge to derive the evolution equations, which form a well-posed system of first order partial differential equations in two variables. We then introduce normalized variables. The formalism is particularly well-suited for numerical computations and the study of the qualitative properties of the models, which are also solutions of Horava gravity. We study the local stability of the equilibrium points of the resulting dynamical system corresponding to physically realistic inhomogeneous cosmological models and astrophysical objects with values for the parameters which are consistent with current constraints. In particular, we consider dust models in (β−) normalized variables and derive a reduced (closed) evolution system and we obtain the general evolution equations for the spatially homogeneous Kantowski-Sachs models using appropriate bounded normalized variables. We then analyse these models, with special emphasis on the future asymptotic behaviour for different values of the parameters. Finally, we investigate static models for a mixture of a (necessarily non-tilted) perfect fluid with a barotropic equations of state and a scalar field.

Three novel mutations in Iranian patients with Tay-Sachs disease.

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Jamali, Solmaz; Eskandari, Nasim; Aryani, Omid; Salehpour, Shadab; Zaman, Talieh; Kamalidehghan, Behnam; Houshmand, Massoud

2014-01-01

Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. In this study, we examined 31 patients for TSD-causing mutations using PCR, followed by restriction enzyme digestion. Molecular genetics analysis of DNA from 23 patients of TSD revealed mutations that has been previously reported, including four-base duplications c.1274_1277dupTATC in exon 11 and IVS2+1G>A, deletion TTAGGCAAGGGC in exon 10 as well as a few novel mutations, including C331G, which altered Gln>Glu in HEXB, A>G, T>C, and p.R510X in exon 14, which predicted a termination codon or nonsense mutation. In conclusion, with the discovery of these novel mutations, the genotypic spectrum of Iranian patients with TSD disease has been extended and could facilitate definition of disease-related mutations.

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

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Haghighi, Alireza; Rezazadeh, Jamileh; Shadmehri, Azam Ahmadi; Haghighi, Amirreza; Kornreich, Ruth; Desnick, Robert J

2011-09-01

The β-hexosaminidase A (HEXA) mutations in the first reported cases of infantile Tay-Sachs disease in the Persian population were identified in two unrelated consanguineous families. The clinical diagnoses of the affected infants were confirmed by their markedly deficient levels of HEXA activity in plasma or peripheral leukocytes. The specific causative mutation in each family was determined by sequencing the HEXA alleles in both sets of related parents. Two mutations were identified: c.1A>G (p.MIV), which obliterated the initiating methionine in codon 1, and c.1177C>T (p.R393X), which predicted a termination codon or nonsense mutation.

Embedded Lensing Time Delays, the Fermat Potential, and the Integrated Sachs-Wolfe Effect

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Chen, Bin; Kantowski, Ronald; Dai, Xinyu

2015-05-01

We derive the Fermat potential for a spherically symmetric lens embedded in a Friedman-Lemaître-Robertson-Walker cosmology and use it to investigate the late-time integrated Sachs-Wolfe (ISW) effect, i.e., secondary temperature fluctuations in the cosmic microwave background (CMB) caused by individual large-scale clusters and voids. We present a simple analytical expression for the temperature fluctuation in the CMB across such a lens as a derivative of the lens’ Fermat potential. This formalism is applicable to both linear and nonlinear density evolution scenarios, to arbitrarily large density contrasts, and to all open and closed background cosmologies. It is much simpler to use and makes the same predictions as conventional approaches. In this approach the total temperature fluctuation can be split into a time-delay part and an evolutionary part. Both parts must be included for cosmic structures that evolve and both can be equally important. We present very simple ISW models for cosmic voids and galaxy clusters to illustrate the ease of use of our formalism. We use the Fermat potentials of simple cosmic void models to compare predicted ISW effects with those recently extracted from WMAP and Planck data by stacking large cosmic voids using the aperture photometry method. If voids in the local universe with large density contrasts are no longer evolving we find that the time delay contribution alone predicts values consistent with the measurements. However, we find that for voids still evolving linearly, the evolutionary contribution cancels a significant part of the time delay contribution and results in predicted signals that are much smaller than recently observed.

Traumatic glenohumeral bone defects and their relationship to failure of arthroscopic Bankart repairs: significance of the inverted-pear glenoid and the humeral engaging Hill-Sachs lesion.

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Burkhart, S S; De Beer, J F

2000-10-01

Our goal was to analyze the results of 194 consecutive arthroscopic Bankart repairs (performed by 2 surgeons with an identical suture anchor technique) in order to identify specific factors related to recurrence of instability. Case series. We analyzed 194 consecutive arthroscopic Bankart repairs by suture anchor technique performed for traumatic anterior-inferior instability. The average follow-up was 27 months (range, 14 to 79 months). There were 101 contact athletes (96 South African rugby players and 5 American football players). We identified significant bone defects on either the humerus or the glenoid as (1) "inverted-pear" glenoid, in which the normally pear-shaped glenoid had lost enough anterior-inferior bone to assume the shape of an inverted pear; or (2) "engaging" Hill-Sachs lesion of the humerus, in which the orientation of the Hill-Sachs lesion was such that it engaged the anterior glenoid with the shoulder in abduction and external rotation. There were 21 recurrent dislocations and subluxations (14 dislocations, 7 subluxations). Of those 21 shoulders with recurrent instability, 14 had significant bone defects (3 engaging Hill-Sachs and 11 inverted-pear Bankart lesions). For the group of patients without significant bone defects (173 shoulders), there were 7 recurrences (4% recurrence rate). For the group with significant bone defects (21 patients), there were 14 recurrences (67% recurrence rate). For contact athletes without significant bone defects, there was a 6.5% recurrence rate, whereas for contact athletes with significant bone defects, there was an 89% recurrence rate. (1) Arthroscopic Bankart repairs give results equal to open Bankart repairs if there are no significant structural bone deficits (engaging Hill-Sachs or inverted-pear Bankart lesions). (2) Patients with significant bone deficits as defined in this study are not candidates for arthroscopic Bankart repair. (3) Contact athletes without structural bone deficits may be treated by

Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient

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Zhong Liu

2016-09-01

Full Text Available Human iPSC line TSD-01-hiPSC was generated from fibroblasts of a patient with infantile Tay-Sachs disease (TSD. The patient is compound heterozygous at the HEXA gene by carrying a 1278insTATC allele and an IVS12+1G>C allele. STEMCCA lentivirus, which expresses OCT4, SOX2, KLF4, and c-MYC from a polycistronic transcript, were used for reprogramming. TSD-01-hiPSC express pluripotency markers such as OCT4, SOX2, NANOG, Tra-1-60, and alkaline phosphatase, and can differentiate into tissues from all the three embryonic germ layers. This TSD patient-derived hiPSC line may serve as a valuable in vitro tool for disease modeling and drug test.

Chlorpromazine-induced perturbations of bile acids and free fatty acids in cholestatic liver injury prevented by the Chinese herbal compound Yin-Chen-Hao-Tang.

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Yang, Qiaoling; Yang, Fan; Tang, Xiaowen; Ding, Lili; Xu, Ying; Xiong, Yinhua; Wang, Zhengtao; Yang, Li

2015-04-16

Yin-Chen-Hao-Tang (YCHT), a commonly used as a traditional chinese medicine for liver disease. Several studies indicated that YCHT may improving hepatic triglyceride metabolism and anti-apoptotic response as well as decreasing oxidative stress .However, little is known about the role of YCHT in chlorpromazine (CPZ) -induced chlolestatic liver injury. Therefore, we aimed to facilitate the understanding of the pathogenesis of cholestatic liver injury and evaluate the effect of Yin-Chen-Hao-Tang (YCHT) on chlorpromazine (CPZ)-induced cholestatic liver injury in rats based on the change of bile acids (BAs) and free fatty acids (FFAs) alone with the biochemical indicators and histological examination. We conducted an experiment on CPZ-induced cholestatic liver injury in Wistar rats with and without YCHT for nine consecutive days. Serum levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), albumin (ALB), total bilirubin (TBIL), total cholesterol (TC), triglycerides (TG), low density lipoprotein-cholesterol (LDL-C) were measured to evaluate the protective effect of YCHT against chlorpromazine (CPZ)-induced cholestatic liver injury. Histopathology of the liver tissue showed that pathological injuries were relieved after YCHT pretreatment. In addition, ultra-performance lipid chromatography coupled with quadrupole mass spectrometry (UPLC-MS) and gas chromatography coupled with mass spectrometry (GC-MS) was applied to determine the content of bile acids, free fatty acids, respectively. Obtained data showed that YCHT attenuated the effect of CPZ-induced cholestatic liver injury, which was manifested by the serum biochemical parameters and histopathology of the liver tissue. YCHT regulated the lipid levels as indicated by the reversed serum levels of TC, TG, and LDL-C. YCHT also regulated the disorder of BA and FFA metabolism by CPZ induction. Results indicated that YCHT exerted a protective effect on CPZ-induced cholestasis liver injury. The variance of

Unverrichteter Sache

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Jani Kirov

2007-01-01

Full Text Available Rezensiertes Werk: Adriaan Lanni, Law and Justice in the Courts of Classical Athens, Cambridge: Cambridge University Press 2006, 210 S., ISBN-13 978-0-521-85759-8; ISBN-10 0-521-85759-7

Chinese herbal medicine compound Yi-Zhi-Hao pellet inhibits replication of influenza virus infection through activation of heme oxygenase-1

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Jinqiu Yin

2017-11-01

Full Text Available As a leading cause of respiratory disease, influenza A virus (IAV presents a pandemic threat in annual seasonal outbreaks. Given the limitation of existing anti-influenza therapies, there remains to be a requirement for new drugs. Compound Yi-Zhi-Hao pellet (CYZH is a famous traditional Chinese medicine (TCM used in the clinic, whose formula has been recorded in Complication of National Standard for Traditional Chinese Medicine to treat common cold. In this study, we found that CYZH exhibited a broad-spectrum anti-influenza activity and inhibited the expression of viral RNA and proteins in vitro. Mechanistically, CYZH had no inhibitory activities against viral protein hemagglutinin and IAV RNA-dependent RNA polymerase. Instead, it induced activation of erythroid 2-related factor 2 (Nrf2 and nuclear factor kappa B (NF-κB, which subsequently upregulated heme oxygenase-1 (HO-1 expression. Also, CYZH protected cells from oxidative damage induced by reactive oxygen series. In conclusions, CYZH inhibits IAV replication in vitro, at least partly by activating expression of the Nrf2/HO-1 pathway.

University of Hawaii Institute for Astronomy

Science.gov (United States)

2001-01-01

Thornton, Scott Sheppard, and Wei-Hao Wang. Visiting colleagues included Marcelo Emilio , Miwa Go- to, Olivier Guyon, Masatoshi Imanishi, Roland Meier...Univ. Nevada, Las Vegas ), and C. Deliyannis (Indiana Univ.). Spectroscopic observations at high spectral resolu- tion of unevolved stars in globular

Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient.

Science.gov (United States)

Liu, Zhong; Zhao, Rui

2016-09-01

Human iPSC line TSD-01-hiPSC was generated from fibroblasts of a patient with infantile Tay-Sachs disease (TSD). The patient is compound heterozygous at the HEXA gene by carrying a 1278insTATC allele and an IVS12+1G>C allele. STEMCCA lentivirus, which expresses OCT4, SOX2, KLF4, and c-MYC from a polycistronic transcript, were used for reprogramming. TSD-01-hiPSC express pluripotency markers such as OCT4, SOX2, NANOG, Tra-1-60, and alkaline phosphatase, and can differentiate into tissues from all the three embryonic germ layers. This TSD patient-derived hiPSC line may serve as a valuable in vitro tool for disease modeling and drug test. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients.

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Shapiro, Barbara E; Logigian, Eric L; Kolodny, Edwin H; Pastores, Gregory M

2008-08-01

Late-onset Tay-Sachs (LOTS) disease is a chronic, progressive, lysosomal storage disorder caused by a partial deficiency of beta-hexosaminidase A (HEXA) activity. Deficient levels of HEXA result in the intracellular accumulation of GM2-ganglioside, resulting in toxicity to nerve cells. Clinical manifestations primarily involve the central nervous system (CNS) and lower motor neurons, and include ataxia, weakness, spasticity, dysarthria, dysphagia, dystonia, seizures, psychosis, mania, depression, and cognitive decline. The prevalence of peripheral nervous system (PNS) involvement in LOTS has not been well documented, but it has traditionally been thought to be very low. We examined a cohort of 30 patients with LOTS who underwent clinical and electrophysiologic examination, and found evidence of a predominantly axon loss polyneuropathy affecting distal nerve segments in the lower and upper extremities in eight patients (27%).

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment.

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Shapiro, Barbara E; Pastores, Gregory M; Gianutsos, John; Luzy, Cécile; Kolodny, Edwin H

2009-06-01

To evaluate the safety and efficacy of miglustat in patients with GM2 gangliosidosis. A randomized, multicenter, open-label, 12-month study involving patients aged 18 years or older, randomized 2:1 to miglustat (200 mg TID) or "no miglustat treatment." This study was followed by 24 months of extended treatment during which all patients received miglustat. Primary efficacy endpoints were change in eight measures of isometric muscle strength in the limbs and isometric grip strength, evaluated at baseline, and months 12 and 36. Secondary efficacy endpoints included gait, balance, disability, and other neurological assessments. Safety evaluations included adverse event reporting. Thirty patients (67% male, age range 18-56 years) with late-onset Tay-Sachs disease were enrolled; 20 were randomized to miglustat and 10 to "no miglustat treatment." Muscle and grip strength generally decreased over the study period. No differences were observed between the two groups in any efficacy measure, either during the 12-month randomized phase or the full 36 months. The most common treatment-related adverse events were decrease in weight and diarrhea. Miglustat treatment was not shown to lead to measurable benefits in this cohort of patients with late-onset Tay-Sachs disease. The observed safety profile was consistent with that of the approved dose (100 mg TID) in type 1 Gaucher disease.

Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease.

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Altarescu, Gheona; Brooks, Barry; Margalioth, Ehud; Eldar Geva, Talia; Levy-Lahad, Ephrat; Renbaum, Paul

2007-07-01

Preimplantation genetic diagnosis (PGD) for single gene defects is described for a family in which each parent is a carrier of both Tay-Sachs (TS) and Gaucher disease (GD). A multiplex fluorescent polymerase chain reaction protocol was developed that simultaneously amplified all four familial mutations and 10 informative microsatellite markers. In one PGD cycle, seven blastomeres were analysed, reaching a conclusive diagnosis in six out of seven embryos for TS and in five out of seven embryos for GD. Of the six diagnosed embryos, one was wild type for both TS and GD, and three were wild type for GD and carriers of TS. Two remaining embryos were compound heterozygotes for TS. Two transferable embryos developed into blastocysts (wt/wt and wt GD/carrier TS) and both were transferred on day 5. This single cycle of PGD resulted in a healthy live child. Allele drop-out (ADO) was observed in three of 34 reactions, yielding an 8% ADO rate. The occurrence of ADO in single cell analysis and undetected recombination events are primary causes of misdiagnosis in PGD and emphasize the need to use multiple polymorphic markers. So far as is known, this is the first report of concomitant PGD for two frequent Ashkenazi Jewish recessive disorders.

Collision-free gases in spatially homogeneous space-times

International Nuclear Information System (INIS)

Maartens, R.; Maharaj, S.D.

1985-01-01

The kinematical and dynamical properties of one-component collision-free gases in spatially homogeneous, locally rotationally symmetric (LRS) space-times are analyzed. Following Ray and Zimmerman [Nuovo Cimento B 42, 183 (1977)], it is assumed that the distribution function f of the gas inherits the symmetry of space-time, in order to construct solutions of Liouville's equation. The redundancy of their further assumption that f be based on Killing vector constants of the motion is shown. The Ray and Zimmerman results for Kantowski--Sachs space-time are extended to all spatially homogeneous LRS space-times. It is shown that in all these space-times the kinematic average four-velocity u/sup i/ can be tilted relative to the homogeneous hypersurfaces. This differs from the perfect fluid case, in which only one space-time admits tilted u/sup i/, as shown by King and Ellis [Commun. Math. Phys. 31, 209 (1973)]. As a consequence, it is shown that all space-times admit nonzero acceleration and heat flow, while a subclass admits nonzero vorticity. The stress π/sub i/j is proportional to the shear sigma/sub i/j by virtue of the invariance of the distribution function. The evolution of tilt and the existence of perfect fluid solutions is also discussed

Quantum cosmology of a Bianchi III LRS geometry coupled to a source free electromagnetic field

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Karagiorgos, A.; Pailas, T.; Dimakis, N.; Terzis, Petros A.; Christodoulakis, T.

2018-03-01

We consider a Bianchi type III axisymmetric geometry in the presence of an electromagnetic field. A first result at the classical level is that the symmetry of the geometry need not be applied on the electromagnetic tensor Fμν the algebraic restrictions, implied by the Einstein field equations to the stress energy tensor Tμν, suffice to reduce the general Fμν to the appropriate form. The classical solution thus found contains a time dependent electric and a constant magnetic charge. The solution is also reachable from the corresponding mini-superspace action, which is strikingly similar to the Reissner-Nordstr{öm one. This points to a connection between the black hole geometry and the cosmological solution here found, which is the analog of the known correlation between the Schwarzschild and the Kantowski-Sachs metrics. The configuration space is drastically modified by the presence of the magnetic charge from a 3D flat to a 3D pp wave geometry. We map the emerging linear and quadratic classical integrals of motion, to quantum observables. Along with the Wheeler-DeWitt equation these observables provide unique, up to constants, wave functions. The employment of a Bohmian interpretation of these quantum states results in deterministic (semi-classical) geometries most of which are singularity free.

Active packaging for fresh-cut broccoli using 1-methylcyclopropene in biodegradable sachet/ Embalagem ativa para brócolis minimamente processado utilizando 1-metilciclopropeno em sachê biodegradável

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Marta de Toledo Benassi

2006-07-01

Full Text Available Fresh-cut broccoli florets were packed in polypropylene pots containing a sachet with 1- methylcyclopropene (1-MCP and sealed with biodegradable starch-based film. Broccoli was stored for 8 days at 12oC and after this time the color and the texture of the product were similar of the fresh broccoli, with no off-flavor development or decay. Active packaging with 1-MCP in a sachet was efficient to extent shelf life of broccoli florets retarding yellowing and vitamin C losses. It is an alternative of 1-MCP treatment for fresh-cut products and besides, the sachet can absorbs condensed water reducing spoilage and off-odor development.Brócolis minimamente processados foram embalados em bandejas de polipropileno com sachê contendo 1-metilciclopropeno (1-MCP e selado com filme biodegradável de amido. Os brócolis foram armazenados por 8 dias a 12oC e após este tempo a cor e a textura mantiveram-se similares às do produto fresco, sem desenvolvimento de odor não característico ou podridão. A embalagem ativa contendo 1-MCP na forma de sachê foi eficiente no aumento da vida de prateleira de brócolis, retardando o amarelecimento e a perda de vitamina C. Esta é uma alternativa para o tratamento com 1-MCP para produtos minimamente processados e além disso, o sachê pode absorver a água condensada, reduzindo a deterioração e o desenvolvimento de odor não característico.

Black holes in an expanding universe and supersymmetry

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Dietmar Klemm

2016-02-01

Full Text Available This paper analyzes the supersymmetric solutions to five and six-dimensional minimal (ungauged supergravities for which the bilinear Killing vector constructed from the Killing spinor is null. We focus on the spacetimes which admit an additional SO(1,1 boost symmetry. Upon the toroidal dimensional reduction along the Killing vector corresponding to the boost, we show that the solution in the ungauged case describes a charged, nonextremal black hole in a Friedmann–Lemaître–Robertson–Walker (FLRW universe with an expansion driven by a massless scalar field. For the gauged case, the solution corresponds to a charged, nonextremal black hole embedded conformally into a Kantowski–Sachs universe. It turns out that these dimensional reductions break supersymmetry since the bilinear Killing vector and the Killing vector corresponding to the boost fail to commute. This represents a new mechanism of supersymmetry breaking that has not been considered in the literature before.

Optical structures, algebraically special spacetimes, and the Goldberg-Sachs theorem in five dimensions

International Nuclear Information System (INIS)

Taghavi-Chabert, Arman

2011-01-01

Optical (or Robinson) structures are one generalization of four-dimensional shearfree congruences of null geodesics to higher dimensions. They are Lorentzian analogues of complex and CR structures. In this context, we extend the Goldberg-Sachs theorem to five dimensions. To be precise, we find a new algebraic condition on the Weyl tensor, which generalizes the Petrov type II condition, in the sense that it ensures the existence of such congruences on a five-dimensional spacetime, vacuum or under weaker assumptions on the Ricci tensor. This results in a significant simplification of the field equations. We discuss possible degenerate cases, including a five-dimensional generalization of the Petrov type D condition. We also show that the vacuum black ring solution is endowed with optical structures, yet fails to be algebraically special with respect to them. We finally explain the generalization of these ideas to higher dimensions, which has been checked in six and seven dimensions.

Integrated Sachs-Wolfe effect versus redshift test for the cosmological parameters

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Kantowski, R.; Chen, B.; Dai, X.

2015-04-01

We describe a method using the integrated Sachs-Wolfe (ISW) effect caused by individual inhomogeneities to determine the cosmological parameters H0, Ωm , and ΩΛ, etc. This ISW-redshift test requires detailed knowledge of the internal kinematics of a set of individual density perturbations, e.g., galaxy clusters and/or cosmic voids, in particular their density and velocity profiles, and their mass accretion rates. It assumes the density perturbations are isolated and embedded (equivalently compensated) and makes use of the newly found relation between the ISW temperature perturbation of the cosmic microwave background (CMB) and the Fermat potential of the lens. Given measurements of the amplitudes of the temperature variations in the CMB caused by such clusters or voids at various redshifts and estimates of their angular sizes or masses, one can constrain the cosmological parameters. More realistically, the converse is more likely, i.e., if the background cosmology is sufficiently constrained, measurement of ISW profiles of clusters and voids (e.g., hot and cold spots and rings) can constrain dynamical properties of the dark matter, including accretion, associated with such lenses and thus constrain the evolution of these objects with redshift.

Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease.

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Seyrantepe, Volkan; Demir, Secil Akyildiz; Timur, Zehra Kevser; Von Gerichten, Johanna; Marsching, Christian; Erdemli, Esra; Oztas, Emin; Takahashi, Kohta; Yamaguchi, Kazunori; Ates, Nurselin; Dönmez Demir, Buket; Dalkara, Turgay; Erich, Katrin; Hopf, Carsten; Sandhoff, Roger; Miyagi, Taeko

2018-01-01

Tay-Sachs disease is a severe lysosomal storage disorder caused by mutations in Hexa, the gene that encodes for the α subunit of lysosomal β-hexosaminidase A (HEXA), which converts GM2 to GM3 ganglioside. Unexpectedly, Hexa -/- mice have a normal lifespan and show no obvious neurological impairment until at least one year of age. These mice catabolize stored GM2 ganglioside using sialidase(s) to remove sialic acid and form the glycolipid GA2, which is further processed by β-hexosaminidase B. Therefore, the presence of the sialidase (s) allows the consequences of the Hexa defect to be bypassed. To determine if the sialidase NEU3 contributes to GM2 ganglioside degradation, we generated a mouse model with combined deficiencies of HEXA and NEU3. The Hexa -/- Neu3 -/- mice were healthy at birth, but died at 1.5 to 4.5months of age. Thin-layer chromatography and mass spectrometric analysis of the brains of Hexa -/- Neu3 -/- mice revealed the abnormal accumulation of GM2 ganglioside. Histological and immunohistochemical analysis demonstrated cytoplasmic vacuolation in the neurons. Electron microscopic examination of the brain, kidneys and testes revealed pleomorphic inclusions of many small vesicles and complex lamellar structures. The Hexa -/- Neu3 -/- mice exhibited progressive neurodegeneration with neuronal loss, Purkinje cell depletion, and astrogliosis. Slow movement, ataxia, and tremors were the prominent neurological abnormalities observed in these mice. Furthermore, radiographs revealed abnormalities in the skeletal bones of the Hexa -/- Neu3 -/- mice. Thus, the Hexa -/- Neu3 -/- mice mimic the neuropathological and clinical abnormalities of the classical early-onset Tay-Sachs patients, and provide a suitable model for the future pre-clinical testing of potential treatments for this condition. Copyright © 2017 Elsevier Inc. All rights reserved.

The bystander effect model of Brenner and Sachs fitted to lung cancer data in 11 cohorts of underground miners, and equivalence of fit of a linear relative risk model with adjustment for attained age and age at exposure

International Nuclear Information System (INIS)

Little, M P

2004-01-01

Bystander effects following exposure to α-particles have been observed in many experimental systems, and imply that linearly extrapolating low dose risks from high dose data might materially underestimate risk. Brenner and Sachs (2002 Int. J. Radiat. Biol. 78 593-604; 2003 Health Phys. 85 103-8) have recently proposed a model of the bystander effect which they use to explain the inverse dose rate effect observed for lung cancer in underground miners exposed to radon daughters. In this paper we fit the model of the bystander effect proposed by Brenner and Sachs to 11 cohorts of underground miners, taking account of the covariance structure of the data and the period of latency between the development of the first pre-malignant cell and clinically overt cancer. We also fitted a simple linear relative risk model, with adjustment for age at exposure and attained age. The methods that we use for fitting both models are different from those used by Brenner and Sachs, in particular taking account of the covariance structure, which they did not, and omitting certain unjustifiable adjustments to the miner data. The fit of the original model of Brenner and Sachs (with 0 y period of latency) is generally poor, although it is much improved by assuming a 5 or 6 y period of latency from the first appearance of a pre-malignant cell to cancer. The fit of this latter model is equivalent to that of a linear relative risk model with adjustment for age at exposure and attained age. In particular, both models are capable of describing the observed inverse dose rate effect in this data set

The Val{sup 192}Leu mutation in the {alpha}-subunit of {beta}-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease

Energy Technology Data Exchange (ETDEWEB)

Hou, Y.; Vavougios, G.; Hinek, A. [Univ. of Toronto (Canada)] [and others

1996-07-01

Substitution mutations adversely affecting the {alpha}-subunit of {beta}-hexosaminidase A ({alpha}{beta}) (EC 3.2.1.52) result in Tay-Sachs disease. The majority affect the initial folding of the pro-{alpha} chain in the endoplasmic reticulum, resulting in its retention and degradation. A much less common occurrence is a mutation that specifically affects an {open_quotes}active-site{close_quotes} residue necessary for substrate binding and/or catalysis. In this case, hexosaminidase A is present in the lysosome, but it lacks all {alpha}-specific activity. This biochemical phenotype is referred to as the {open_quotes}B1-variant form{close_quotes} of Tay-Sachs disease. Kinetic analysis of suspected B1-variant mutations is complex because hexosaminidase A is heterodimeric and both subunits possess similar active sites. In this report, we examine a previously identified B1-variant mutation, {alpha}-Val{sup 192}Leu. Chinese hamster ovary cells were permanently cotransfected with an {alpha}-cDNA-construct encoding the substitution and a mutant {beta}-cDNA ({beta}-Arg{sup 211}Lys), encoding a {beta}-subunit that is inactive but normal in all other respects. We were surprised to find that the Val{sup 192}Leu substitution produced a pro-{alpha} chain that did not form {alpha}-{beta} dimers and was not transported to the lysosome. Finally, we reexamined the hexosaminidase activity and protein levels in the fibroblasts from the original patient. These data were also not consistent with the biochemical phenotype of the B1 variant of Tay-Sachs disease previously reported to be present. Thus, we conclude that the Val{sup 192}Leu substitution does not specifically affect the {alpha}-active site. 23 refs., 4 figs., 2 tabs.

A hymenopterists’ guide to the Hymenoptera Anatomy Ontology: utility, clarification, and future directions

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Katja Seltmann

2012-05-01

Full Text Available Hymenoptera exhibit an incredible diversity of phenotypes, the result of ~240 million years of evolution and the primary subject of more than 250 years of research. Here we describe the history, development, and utility of the Hymenoptera Anatomy Ontology (HAO and its associated applications. These resources are designed to facilitate accessible and extensible research on hymenopteran phenotypes. Outreach with the hymenopterist community is of utmost importance to the HAO project, and this paper is a direct response to questions that arised from project workshops. In a concerted attempt to surmount barriers of understanding, especially regarding the format, utility, and development of the HAO, we discuss the roles of homology, “preferred terms”, and “structural equivalency”. We also outline the use of Universal Resource Identifiers (URIs and posit that they are a key element necessary for increasing the objectivity and repeatability of science that references hymenopteran anatomy. Pragmatically, we detail a mechanism (the “URI table” by which authors can use URIs to link their published text to the HAO, and we describe an associated tool (the “Analyzer” to derive these tables. These tools, and others, are available through the HAO Portal website (http://portal.hymao.org. We conclude by discussing the future of the HAO with respect to digital publication, cross-taxon ontology alignment, the advent of semantic phenotypes, and community-based curation.

Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

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Mehul Mistri

Full Text Available Tay Sachs disease (TSD is a neurodegenerative disorder due to β-hexosaminidase A deficiency caused by mutations in the HEXA gene. The mutations leading to Tay Sachs disease in India are yet unknown. We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene. The clinical inclusion criteria included neuroregression, seizures, exaggerated startle reflex, macrocephaly, cherry red spot on fundus examination and spasticity. Neuroimaging criteria included thalamic hyperdensities on CT scan/T1W images of MRI of the brain. Biochemical criteria included deficiency of hexosaminidase A (less than 2% of total hexosaminidase activity for infantile patients. Total leukocyte hexosaminidase activity was assayed by 4-methylumbelliferyl-N-acetyl-β-D-glucosamine lysis and hexosaminidase A activity was assayed by heat inactivation method and 4-methylumbelliferyl-N-acetyl-β-D-glucosamine-6-sulphate lysis method. The exons and exon-intron boundaries of the HEXA gene were bidirectionally sequenced using an automated sequencer. Mutations were confirmed in parents and looked up in public databases. In silico analysis for mutations was carried out using SIFT, Polyphen2, MutationT@ster and Accelrys Discovery Studio softwares. Fifteen families were included in the study. We identified six novel missense mutations, c.340 G>A (p.E114K, c.964 G>A (p.D322N, c.964 G>T (p.D322Y, c.1178C>G (p.R393P and c.1385A>T (p.E462V, c.1432 G>A (p.G478R and two previously reported mutations. c.1277_1278insTATC and c.508C>T (p.R170W. The mutation p.E462V was found in six unrelated families from Gujarat indicating a founder effect. A previously known splice site mutation c.805+1 G>C and another intronic mutation c.672+30 T>G of unknown significance were also identified. Mutations could not be identified in one family. We conclude that TSD patients from Gujarat should be screened for the common mutation p.E462V.

Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

Science.gov (United States)

Mistri, Mehul; Tamhankar, Parag M; Sheth, Frenny; Sanghavi, Daksha; Kondurkar, Pratima; Patil, Swapnil; Idicula-Thomas, Susan; Gupta, Sarita; Sheth, Jayesh

2012-01-01

Tay Sachs disease (TSD) is a neurodegenerative disorder due to β-hexosaminidase A deficiency caused by mutations in the HEXA gene. The mutations leading to Tay Sachs disease in India are yet unknown. We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene. The clinical inclusion criteria included neuroregression, seizures, exaggerated startle reflex, macrocephaly, cherry red spot on fundus examination and spasticity. Neuroimaging criteria included thalamic hyperdensities on CT scan/T1W images of MRI of the brain. Biochemical criteria included deficiency of hexosaminidase A (less than 2% of total hexosaminidase activity for infantile patients). Total leukocyte hexosaminidase activity was assayed by 4-methylumbelliferyl-N-acetyl-β-D-glucosamine lysis and hexosaminidase A activity was assayed by heat inactivation method and 4-methylumbelliferyl-N-acetyl-β-D-glucosamine-6-sulphate lysis method. The exons and exon-intron boundaries of the HEXA gene were bidirectionally sequenced using an automated sequencer. Mutations were confirmed in parents and looked up in public databases. In silico analysis for mutations was carried out using SIFT, Polyphen2, MutationT@ster and Accelrys Discovery Studio softwares. Fifteen families were included in the study. We identified six novel missense mutations, c.340 G>A (p.E114K), c.964 G>A (p.D322N), c.964 G>T (p.D322Y), c.1178C>G (p.R393P) and c.1385A>T (p.E462V), c.1432 G>A (p.G478R) and two previously reported mutations. c.1277_1278insTATC and c.508C>T (p.R170W). The mutation p.E462V was found in six unrelated families from Gujarat indicating a founder effect. A previously known splice site mutation c.805+1 G>C and another intronic mutation c.672+30 T>G of unknown significance were also identified. Mutations could not be identified in one family. We conclude that TSD patients from Gujarat should be screened for the common mutation p.E462V.

Spontaneous appearance of Tay-Sachs disease in an animal model.

Science.gov (United States)

Zeng, B J; Torres, P A; Viner, T C; Wang, Z H; Raghavan, S S; Alroy, J; Pastores, G M; Kolodny, E H

2008-01-01

Tay-Sachs disease (TSD) is a progressive neurodegenerative disorder due to an autosomal recessively inherited deficiency of beta-hexosaminidase A (Hex A). Deficiency of Hex A in TSD is caused by a defect of the alpha-subunit resulting from mutations of the HEXA gene. To date, there is no effective treatment for TSD. Animal models of genetic diseases, similar to those known to exist in humans, are valuable and essential research tools for the study of potentially effective therapies. However, there is no ideal animal model of TSD available for use in therapeutic trials. In the present study, we report an animal model (American flamingo; Phoenicopterus ruber) of TSD with Hex A deficiency occurring spontaneously in nature, with accumulation of G(M2)-ganglioside, deficiency of Hex A enzymatic activity, and a homozygous P469L mutation in exon 12 of the hexa gene. In addition, we have isolated the full-length cDNA sequence of the flamingo, which consists of 1581 nucleotides encoding a protein of 527 amino acids. Its coding sequence indicates approximately 71% identity at the nucleotide level and about 72.5% identity at the amino acid level with the encoding region of the human HEXA gene. This animal model, with many of the same features as TSD in humans, could represent a valuable resource for investigating therapy of TSD.

The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.

Science.gov (United States)

Georgiou, Theodoros; Christopoulos, George; Anastasiadou, Violetta; Hadjiloizou, Stavros; Cregeen, David; Jackson, Marie; Mavrikiou, Gavriella; Kleanthous, Marina; Drousiotou, Anthi

2014-12-01

Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder caused by mutations in the HEXA gene resulting in β-hexosaminidase A (HEX A) deficiency and neuronal accumulation of GM2 ganglioside. We describe the first patient with Tay-Sachs disease in the Cypriot population, a juvenile case which presented with developmental regression at the age of five. The diagnosis was confirmed by measurement of HEXA activity in plasma, peripheral leucocytes and fibroblasts. Sequencing the HEXA gene resulted in the identification of two previously described mutations: the nonsense mutation c.78G>A (p.Trp26X) and the silent mutation c.1305C>T (p.=). The silent mutation was reported once before in a juvenile TSD patient of West Indian origin with an unusually mild phenotype. The presence of this mutation in another juvenile TSD patient provides further evidence that it is a disease-causing mutation. Successful preimplantation genetic diagnosis (PGD) and prenatal follow-up were provided to the couple.

Fermat Potentials of Embedded Lensing, the Integrated Sachs-Wolfe Effect, and Weak-Lensing of CMB by Cosmic Voids

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Chen, Bin; Kantowski, R.; Dai, X.

2014-01-01

We have developed an accurate gravitational lens theory for an inhomogeneity embedded in an otherwise homogeneous universe, which to the lowest order is applicable to any mass distribution. We derive the Fermat potential for a spherically symmetric lens embedded in a FLRW cosmology and use it to investigate the late-time integrated Sachs-Wolfe effect (ISW) caused by individual large scale inhomogeneities, in particular, cosmic voids. We present a simple analytical expression for the CMB temperature fluctuation across such a lens as the derivative of the lens Fermat potential. Our formalism is applicable to both linear and nonlinear density evolution scenarios, to arbitrarily large density contrasts, and to all open and closed background cosmologies. Our results are particularly useful for modeling ISW effects extracted through stacking large numbers of cosmic voids and clusters (that is, the aperture photometry method). For structures co-expanding with the background cosmology, i.e., for time-independent density contrasts, we find that the gravitational lensing time delay alone can produce fluctuations of the order of seen in recent observations by WMAP and Planck. We revisit the possibility of explaining the non-Gaussian cold spot on the south hemisphere via the Rees-Sciama effect of a large cosmic void using constraints obtained from the most recent void catalogs and our new void-lensing formalism, and compare it with other explanations such as a collapsing cosmic texture. We also study the remapping of primordial CMB anisotropies, the weak-lensing shear, and magnification caused by void lensing.

78 FR 67363 - Findings of Research Misconduct

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2013-11-12

... University--Canada (formerly University of Western Ontario): Based on the report of an investigation conducted by Western University--Canada (WU) and ORI's subsequent oversight analysis, ORI found that Dr. Hao...-supported research, Respondent shall ensure that a plan for supervision of his duties is submitted to ORI...

Crystallographic Structure of Human β-Hexosaminidase A: Interpretation of Tay-Sachs Mutations and Loss of GM2 Ganglioside Hydrolysis

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Lemieux, M. Joanne; Mark, Brian L.; Cherney, Maia M.; Withers, Stephen G.; Mahuran, Don J.; James, Michael N. G.

2010-01-01

Lysosomal β-hexosaminidase A (Hex A) is essential for the degradation of GM2 gangliosides in the central and peripheral nervous system. Accumulation of GM2 leads to severely debilitating neurodegeneration associated with Tay-Sachs disease (TSD), Sandoff disease (SD) and AB variant. Here, we present the X-ray crystallographic structure of Hex A to 2.8 Å resolution and the structure of Hex A in complex with NAG-thiazoline, (NGT) to 3.25 Å resolution. NGT, a mechanism-based inhibitor, has been shown to act as a chemical chaperone that, to some extent, prevents misfolding of a Hex A mutant associated with adult onset Tay Sachs disease and, as a result, increases the residual activity of Hex A to a level above the critical threshold for disease. The crystal structure of Hex A reveals an αβ heterodimer, with each subunit having a functional active site. Only the α-subunit active site can hydrolyze GM2 gangliosides due to a flexible loop structure that is removed post-translationally from β, and to the presence of αAsn423 and αArg424. The loop structure is involved in binding the GM2 activator protein, while αArg424 is critical for binding the carboxylate group of the N-acetyl-neuraminic acid residue of GM2. The β-subunit lacks these key residues and has βAsp452 and βLeu453 in their place; the β-subunit therefore cleaves only neutral substrates efficiently. Mutations in the α-subunit, associated with TSD, and those in the β-subunit, associated with SD are discussed. The effect of NGT binding in the active site of a mutant Hex A and its effect on protein function is discussed. PMID:16698036

Effects of Xiaochuan Yi Hao on plasma TXB2 and 6-K-PGF1α levels in guinea pig with asthma

International Nuclear Information System (INIS)

Chen Jinyan; Cheng Zhixi; Li Zhiqiang

2002-01-01

Objective: Xiaochuan Yi Hao (XYH) is a clinically proved effective recipe for treatment of asthma. According to current understanding of the disease mechanism of bronchial asthma the plasma levels as thromboxane B 2 (TXB 2 ) and 6-keto-prostaglandin F 1α (6-K-PGF 1α ) were studied in guinea to elucidate the pharmacological action of XYH recipe. Methods: Asthma was induced in guinea pigs after immunization with abdominal injection of 10% egg albumin. The latent period of asthma paroxysm was observed after sensitized guinea pigs had inhaled the albumin aerosol. TXB 2 and 6-K-PGF 1α levels in plasma were detected by radioimmunoassay (RIA). Results: Plasma TXB 2 and 6-K-PGF 1α levels were 197.53 +- 87.56 pg/ml and 29.08 +- 9.17 pg/ml respectively in the asthma model group. XYH recipe was able to restore the TXB 2 and 6-K-PGF 1α levels towards normal to 123.40 +- 59.78 pg/ml and 41.73 +- 14.81 pg/ml. The effect of XYH recipe was shown to be dose related. Conclusion: XYH might be effective in treatment-of bronchial asthma through restoring the balance between TXB 2 and 6-K-PGF 1α

Initial-boundary-value problem of the self-gravitating scalar field in the Bondi-Sachs gauge

International Nuclear Information System (INIS)

Frittelli, Simonetta; Gomez, Roberto

2007-01-01

It is shown that, in the Bondi-Sachs gauge that fixes the speed of incoming light rays to the value 1, the Einstein equations coupled to a scalar field in spherical symmetry are cast into a symmetric-hyperbolic system of equations for the scalar field, lapse and shift as fundamental variables. In this system of equations, the lapse and shift are incoming characteristic fields, and the scalar field has three components: incoming, outgoing and static. A constraint-preserving boundary condition is prescribed by imposing the projection of the Einstein equation normal to the boundary at the outer value of the radial coordinate. The boundary condition specifies one of the two incoming metric fields. The remaining incoming metric field and the incoming scalar field component need to be specified arbitrarily. Numerical simulations of the scattering of the scalar field by a black hole in the nonlinear regime are presented that illustrate interesting facts about black-hole physics and the behavior of the characteristic variables of the problem

How flat is our Universe really?

International Nuclear Information System (INIS)

Okouma, P.M.; Fantaye, Y.; Bassett, B.A.

2013-01-01

Distance measurement provides no constraints on curvature independent of assumptions about the dark energy, raising the question, how flat is our Universe if we make no such assumptions? Allowing for general evolution of the dark energy equation of state with 20 free parameters that are allowed to cross the phantom divide, w(z)=−1, we show that while it is indeed possible to match the first peak in the Cosmic Microwave Background with non-flat models and arbitrary Hubble constant, H 0 , the full WMAP7 and supernova data alone imply −0.12 k 0 prior, this tightens significantly to Ω k =0.002±0.009. These constitute the most conservative and model-independent constraints on curvature available today, and illustrate that the curvature-dynamics degeneracy is broken by current data, with a key role played by the Integrated Sachs Wolfe effect rather than the distance to the surface of last scattering. If one imposes a quintessence prior on the dark energy (−1⩽w(z)⩽1) then just the WMAP7 and supernova data alone force the Universe to near flatness: Ω k =0.013±0.012. Finally, allowing for curvature, we find that all datasets are consistent with a Harrison–Zel'dovich spectral index, n s =1, at 2σ, illustrating the interplay between early and late Universe constraints

In silico analyses of essential interactions of iminosugars with the Hex A active site and evaluation of their pharmacological chaperone effects for Tay-Sachs disease.

Science.gov (United States)

Kato, Atsushi; Nakagome, Izumi; Nakagawa, Shinpei; Kinami, Kyoko; Adachi, Isao; Jenkinson, Sarah F; Désiré, Jérôme; Blériot, Yves; Nash, Robert J; Fleet, George W J; Hirono, Shuichi

2017-11-15

The affinity of a series of iminosugar-based inhibitors exhibiting various ring sizes toward Hex A and their essential interactions with the enzyme active site were investigated. All the Hex A-inhibiting iminosugars tested formed hydrogen bonds with Arg178, Asp322, Tyr421 and Glu462 and had the favorable cation-π interaction with Trp460. Among them, DMDP amide (6) proved to be the most potent competitive inhibitor with a K i value of 0.041 μM. We analyzed the dynamic properties of both DMDP amide (6) and DNJNAc (1) in aqueous solution using molecular dynamics (MD) calculations; the distance of the interaction between Asp322 and 3-OH and Glu323 and 6-OH was important for stable interactions with Hex A, reducing fluctuations in the plasticity of the active site. DMDP amide (6) dose-dependently increased intracellular Hex A activity in the G269S mutant cells and restored Hex A activity up to approximately 43% of the wild type level; this effect clearly exceeded the border line treatment for Tay-Sachs disease, which is regarded as 10-15% of the wild type level. This is a significantly greater effect than that of pyrimethamine, which is currently in Phase 2 clinical trials. DMDP amide (6), therefore, represents a new promising pharmacological chaperone candidate for the treatment of Tay-Sachs disease.

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

Science.gov (United States)

Gort, Laura; de Olano, Natalia; Macías-Vidal, Judit; Coll, M A Josep

2012-09-10

The GM2 gangliosidoses are autosomal recessive lysosomal storage diseases caused by a deficiency of the β-hexosaminidase A enzyme. This enzyme is composed of two polypeptide chains designated the α- and β- subunits and it interacts with the GM2 activator protein. The HEXA and HEXB genes encode the α-subunit and the β-subunit, respectively. Mutations in these genes are causative of Tay-Sachs disease (HEXA) and Sandhoff disease (HEXB). We analyzed the complete HEXA gene in 34 Spanish patients with Tay-Sachs disease and the HEXB gene in 14 Spanish patients with Sandhoff disease. We identified 27 different mutations, 14 of which were novel, in the HEXA gene and 14 different mutations, 8 of which unreported until now, in the HEXB gene, and we attempted to correlate these mutations with the clinical presentation of the patients. We found a high frequency of c.459+5G>A (IVS4+5G>A) mutation in HEXA affected patients, 22 of 68 alleles, which represent the 32.4%. This is the highest percentage found of this mutation in a population. All patients homozygous for mutation c.459+5G>A presented with the infantile form of the disease and, as previously reported, patients carrying mutation p.R178H in at least one of the alleles presented with a milder form. In HEXB affected patients, the novel deletion c.171delG accounts for 21.4% of the mutant alleles (6/28). All patients with this deletion showed the infantile form of the disease. The Spanish GM2 gangliosidoses affected patients show a great mutational heterogeneity as seen in other inherited lisosomal diseases in this country. Copyright © 2012. Published by Elsevier B.V.

Characterization of inducible models of Tay-Sachs and related disease.

Science.gov (United States)

Sargeant, Timothy J; Drage, Deborah J; Wang, Susan; Apostolakis, Apostolos A; Cox, Timothy M; Cachón-González, M Begoña

2012-09-01

Tay-Sachs and Sandhoff diseases are lethal inborn errors of acid β-N-acetylhexosaminidase activity, characterized by lysosomal storage of GM2 ganglioside and related glycoconjugates in the nervous system. The molecular events that lead to irreversible neuronal injury accompanied by gliosis are unknown; but gene transfer, when undertaken before neurological signs are manifest, effectively rescues the acute neurodegenerative illness in Hexb-/- (Sandhoff) mice that lack β-hexosaminidases A and B. To define determinants of therapeutic efficacy and establish a dynamic experimental platform to systematically investigate cellular pathogenesis of GM2 gangliosidosis, we generated two inducible experimental models. Reversible transgenic expression of β-hexosaminidase directed by two promoters, mouse Hexb and human Synapsin 1 promoters, permitted progression of GM2 gangliosidosis in Sandhoff mice to be modified at pre-defined ages. A single auto-regulatory tetracycline-sensitive expression cassette controlled expression of transgenic Hexb in the brain of Hexb-/- mice and provided long-term rescue from the acute neuronopathic disorder, as well as the accompanying pathological storage of glycoconjugates and gliosis in most parts of the brain. Ultimately, late-onset brainstem and ventral spinal cord pathology occurred and was associated with increased tone in the limbs. Silencing transgenic Hexb expression in five-week-old mice induced stereotypic signs and progression of Sandhoff disease, including tremor, bradykinesia, and hind-limb paralysis. As in germline Hexb-/- mice, these neurodegenerative manifestations advanced rapidly, indicating that the pathogenesis and progression of GM2 gangliosidosis is not influenced by developmental events in the maturing nervous system.

Characterization of inducible models of Tay-Sachs and related disease.

Directory of Open Access Journals (Sweden)

Timothy J Sargeant

2012-09-01

Full Text Available Tay-Sachs and Sandhoff diseases are lethal inborn errors of acid β-N-acetylhexosaminidase activity, characterized by lysosomal storage of GM2 ganglioside and related glycoconjugates in the nervous system. The molecular events that lead to irreversible neuronal injury accompanied by gliosis are unknown; but gene transfer, when undertaken before neurological signs are manifest, effectively rescues the acute neurodegenerative illness in Hexb-/- (Sandhoff mice that lack β-hexosaminidases A and B. To define determinants of therapeutic efficacy and establish a dynamic experimental platform to systematically investigate cellular pathogenesis of GM2 gangliosidosis, we generated two inducible experimental models. Reversible transgenic expression of β-hexosaminidase directed by two promoters, mouse Hexb and human Synapsin 1 promoters, permitted progression of GM2 gangliosidosis in Sandhoff mice to be modified at pre-defined ages. A single auto-regulatory tetracycline-sensitive expression cassette controlled expression of transgenic Hexb in the brain of Hexb-/- mice and provided long-term rescue from the acute neuronopathic disorder, as well as the accompanying pathological storage of glycoconjugates and gliosis in most parts of the brain. Ultimately, late-onset brainstem and ventral spinal cord pathology occurred and was associated with increased tone in the limbs. Silencing transgenic Hexb expression in five-week-old mice induced stereotypic signs and progression of Sandhoff disease, including tremor, bradykinesia, and hind-limb paralysis. As in germline Hexb-/- mice, these neurodegenerative manifestations advanced rapidly, indicating that the pathogenesis and progression of GM2 gangliosidosis is not influenced by developmental events in the maturing nervous system.

Probing the integrated Sachs-Wolfe effect using embedded lens models

Science.gov (United States)

Chen, B.; Kantowski, R.

2015-04-01

The photometry profile of the integrated Sachs-Wolfe (ISW) effect, recently obtained by the Planck consortium by stacking patches of cosmic microwave background (CMB) sky maps around a large number of cosmic voids, contains a cold ring at about half the void's effective radius surrounded by a hot ring near the void's boundary. The source of the temperature structure is assumed to be the ISW effect but the exact cause of the ringed structure is not currently well understood, particularly the outer hot ring. Numerical simulations have suggested that hot/cold ring structures can be produced by motions associated with nonlinear growths of cosmic structures whose gravitational potentials produce the ISW effect. We have recently developed the embedded lens theory and the Fermat potential formalism which can be used to model the ISW effect caused by intervening individual lens inhomogeneities evolving arbitrarily. This theory only requires knowledge of the void's projected mass profile as a function of the passing CMB photons' impact radius and the rate of change of that mass distribution at passage. We present two simple embedded void lens models with evolving mass densities and investigate the ISW effect caused by these lenses. Both models possess expanding mass shells which produce hot rings around central cold regions, consistent with the recent observations. By adding a small overdensity at the void's center we can produce the slight positive temperature excess hinted at in Planck's photometric results. We conclude that the embedded lens theory and the Fermat potential formalism is well suited for modeling the ISW effect.

Physical map location of the multicopy genes coding for ammonia monooxygenase and hydroxylamine oxidoreductase in the ammonia-oxidizing bacterium Nitrosomonas sp. strain ENI-11.

Science.gov (United States)

Hirota, R; Yamagata, A; Kato, J; Kuroda, A; Ikeda, T; Takiguchi, N; Ohtake, H

2000-02-01

Pulsed-field gel electrophoresis of PmeI digests of the Nitrosomonas sp. strain ENI-11 chromosome produced four bands ranging from 1,200 to 480 kb in size. Southern hybridizations suggested that a 487-kb PmeI fragment contained two copies of the amoCAB genes, coding for ammonia monooxygenase (designated amoCAB(1) and amoCAB(2)), and three copies of the hao gene, coding for hydroxylamine oxidoreductase (hao(1), hao(2), and hao(3)). In this DNA fragment, amoCAB(1) and amoCAB(2) were about 390 kb apart, while hao(1), hao(2), and hao(3) were separated by at least about 100 kb from each other. Interestingly, hao(1) and hao(2) were located relatively close to amoCAB(1) and amoCAB(2), respectively. DNA sequence analysis revealed that hao(1) and hao(2) shared 160 identical nucleotides immediately upstream of each translation initiation codon. However, hao(3) showed only 30% nucleotide identity in the 160-bp corresponding region.

Radioimmunoassay and heat denaturation enzyme assay for the detection of Tay-Sachs heterozygotes during pregnancy

International Nuclear Information System (INIS)

Nguyen, C.; Gold, R.J.M.; Mahuran, D.; Lowden, J.A.

1981-01-01

Tay-Sachs disease results from a loss of activity of hexosaminidase A (HEX A) in body tissues and fluids. Heterozygotes for the disease are usually identified by their relatively low ratio of heat-labile HEX A to total hexosaminidase. During pregnancy an intermediate isoenzyme (HEX I) increases in activity in serum and obscures the heterozygote status. HEX I does not increase in leucocytes, tears and other body tissues but because of technical difficulties in these assays the authors examined the feasibility of using a radioimmunoassay for HEX A. By univariate analysis, the heat denaturation assay gave a lower cost of misclassification for non-pregnant normals while RIA did so for pregnant normals. A combination of both tests led to reduced cost of misclassification compared to either alone. Bayesian analysis of bivariate gaussian density functions for heat denaturation and for radioimmunoassays of HEX isoenzymes was employed to calculate misclassification frequencies. Among the parameters examined, HEX A measured by RIA and % HEX A by heat-denaturation assay were the two having the best discriminatory power. (Auth.)

How flat is our Universe really?

Energy Technology Data Exchange (ETDEWEB)

Okouma, P.M., E-mail: okouma@saao.ac.za [Department of Maths and Applied Maths, University of Cape Town, Rondebosch 7701, Cape Town (South Africa); South African Astronomical Observatory, Observatory, Cape Town (South Africa); African Institute for Mathematical Sciences, 6-8 Melrose Road, Muizenberg, Cape Town (South Africa); Centre for High Performance Computing, 15 Lower Hope St., Rosebank, Cape Town (South Africa); Fantaye, Y. [Astrophysics Sector, International School for Advanced Studies, SISSA, 34136 Trieste (Italy); Institute of Theoretical Astrophysics, University of Oslo, P.O. Box 1029 Blindern, N-0315, Oslo (Norway); Bassett, B.A. [Department of Maths and Applied Maths, University of Cape Town, Rondebosch 7701, Cape Town (South Africa); South African Astronomical Observatory, Observatory, Cape Town (South Africa); African Institute for Mathematical Sciences, 6-8 Melrose Road, Muizenberg, Cape Town (South Africa); Centre for High Performance Computing, 15 Lower Hope St., Rosebank, Cape Town (South Africa)

2013-02-12

Distance measurement provides no constraints on curvature independent of assumptions about the dark energy, raising the question, how flat is our Universe if we make no such assumptions? Allowing for general evolution of the dark energy equation of state with 20 free parameters that are allowed to cross the phantom divide, w(z)=−1, we show that while it is indeed possible to match the first peak in the Cosmic Microwave Background with non-flat models and arbitrary Hubble constant, H{sub 0}, the full WMAP7 and supernova data alone imply −0.12<Ω{sub k}<0.01 (2σ). If we add an H{sub 0} prior, this tightens significantly to Ω{sub k}=0.002±0.009. These constitute the most conservative and model-independent constraints on curvature available today, and illustrate that the curvature-dynamics degeneracy is broken by current data, with a key role played by the Integrated Sachs Wolfe effect rather than the distance to the surface of last scattering. If one imposes a quintessence prior on the dark energy (−1⩽w(z)⩽1) then just the WMAP7 and supernova data alone force the Universe to near flatness: Ω{sub k}=0.013±0.012. Finally, allowing for curvature, we find that all datasets are consistent with a Harrison–Zel'dovich spectral index, n{sub s}=1, at 2σ, illustrating the interplay between early and late Universe constraints.

Effect Effects of Auricularia auricula Polysaccharides on Exhaustive ...

African Journals Online (AJOL)

Exhaustive Swimming Exercise-Induced Oxidative Stress in Mice. Haitao Hao .... of the College of Life Sciences, China Jiliang. University ..... The delicate physiological balance between oxidative ... This work was supported by funds from.

The presence of two different infantile Tay-Sachs disease mutations in a Cajun population

Energy Technology Data Exchange (ETDEWEB)

McDowell, G.A.; Blitzer, M.G. (Univ. of Maryland School of Medicine, Baltimore, MD (United States)); Mules, E.H. (Kennedy Krieger Institute, Baltimore, MD (United States)); Fabacher, P. (Office of Public Health, Shreveport, LA (United States)); Shapira, E. (Tulane Univ. of School of Medicine, New Orleans, LA (United States))

1992-11-01

A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the [beta]-hexosaminidase A (Hex A) [alpha]-subunit exon 11 insertion mutation that is present in approximately 70% of Ashkenazi Jewish TSD heterozygotes. The mutation in the remaining allele was a single-base transition in the donor splice site of the [alpha]-subunit intron 9. To determine the origins of these two mutations in the Cajun population, the TSD carrier status was enzymatically determined for 90 members of four of the six families, and extensive pedigrees were constructed for all carriers. A single ancestral couple from France was found to be common to most of the carriers of the exon 11 insertion. Pedigree data suggest that this mutation has been in the Cajun population since its founding over 2 centuries ago and that it may be widely distributed within the population. In contrast, the intron 9 mutation apparently was introduced within the last century and probably is limited to a few Louisiana families. 29 refs., 4 figs.

High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up.

Science.gov (United States)

Curd, Helen; Lewis, Sharon; Macciocca, Ivan; Sahhar, Margaret; Petrou, Vicki; Bankier, Agnes; Lieberman, Sari; Levy-Lahad, Ephrat; Delatycki, Martin B

2014-04-01

The Melbourne high school Tay-Sachs disease (TSD) carrier screening program began in 1997. The aim of this study was to assess the outcomes of this screening program among those who had testing more than 5 years ago, to evaluate the long-term impact of screening. A questionnaire was used for data collection and consisted of validated scales and purposively designed questions. Questionnaires were sent to all carriers and two non-carriers for each carrier who were screened in the program between 1999 and 2005. Twenty-four out of 69 (34.8 %) carriers and 30/138 (21.7 %) non-carriers completed the questionnaire. Most participants (82 %) retained good knowledge of TSD and there was no evidence of a difference in knowledge between carriers and non-carriers. Most participants (83 %) were happy with the timing and setting of screening and thought that education and screening for TSD should be offered during high school. There was no difference between carriers and non-carriers in mean scores for the State Trait Anxiety Inventory and Decision Regret Scale. This evaluation indicated that 5-11 years post high school screening, those who were screened are supportive of the program and that negative consequences are rare.

Orientation relationship in various 9% Cr ferritic/martensitic steels-EBSD comparison between Nishiyama-Wassermann, Kurdjumov-Sachs and Greninger-Troiano

International Nuclear Information System (INIS)

Barcelo, F.; Bechade, J. L.; Fournier, B.

2010-01-01

EBSD measurements were carried out on four different martensitic steels (T91, P92, EM10 and Eurofer) in various metallurgical conditions (nine different microstructural states). The usual orientation relationships (ORs) between the parent austenitic phase and the resulting martensite in martensitic steels are those of Nishiyama-Wassermann (NW) and Kurjumov-Sachs (KS). The present study first proposes a methodology based on the combined analysis of the misorientation distribution, the pole figures (PFs) and the angle/axis pairs. This methodology leads to the conclusion that neither NW nor KS relationships are able to account for all the features observed whatever the material under study. A third OR proposed by Greninger and Troiano (GT) proves to describe the relationship between austenite and ferrite in all four different martensitic steels much more accurately. (authors)

Effect Effects of Auricularia auricula Polysaccharides on Exhaustive ...

African Journals Online (AJOL)

Pharmacotherapy Group, Faculty of Pharmacy, University of Benin, Benin City, 300001 Nigeria. ... in Mice. Haitao Hao. Department of Physical Education and Military Training, China Jiliang ..... Nutr Sci Vitaminol (Tokyo) 2004; 50: 300-304. 5.

Design, synthesis, and biological evaluation of enantiomeric beta-N-acetylhexosaminidase inhibitors LABNAc and DABNAc as potential agents against Tay-Sachs and Sandhoff disease.

Science.gov (United States)

Rountree, J S Shane; Butters, Terry D; Wormald, Mark R; Boomkamp, Stephanie D; Dwek, Raymond A; Asano, Naoki; Ikeda, Kyoko; Evinson, Emma L; Nash, Robert J; Fleet, George W J

2009-03-01

N-Acetylhexosaminidases are of considerable importance in mammals and are involved in various significant biological processes. In humans, deficiencies of these enzymes in the lysosome, resulting from inherited genetic defects, cause the glycolipid storage disorders Tay-Sachs and Sandhoff diseases. One promising therapy for these diseases involves the use of beta-N-acetylhexosaminidase inhibitors as chemical chaperones to enhance the enzyme activity above sub-critical levels. Herein we describe the synthesis and biological evaluation of a potent inhibitor, 2-acetamido-1,4-imino-1,2,4-trideoxy-L-arabinitol (LABNAc), in a high-yielding 11-step procedure from D-lyxonolactone. The N-benzyl and N-butyl analogues were also prepared and found to be potent inhibitors. The enantiomers DABNAc and NBn-DABNAc were synthesised from L-lyxonolactone, and were also evaluated. The L-iminosugar LABNAc and its derivatives were found to be potent noncompetitive inhibitors of some beta-N-acetylhexosaminidases, while the D-iminosugar DABNAc and its derivatives were found to be weaker competitive inhibitors. These results support previous work postulating that D-iminosugar mimics inhibit D-glycohydrolases competitively, and that their corresponding L-enantiomers show noncompetitive inhibition of these enzymes. Molecular modelling studies confirm that the spatial organisation in enantiomeric inhibitors leads to a different overlay with the monosaccharide substrate. Initial cell-based studies suggest that NBn-LABNAc can act as a chemical chaperone to enhance the deficient enzyme's activity to levels that may cause a positive pharmacological effect. LABNAc, NBn-LABNAc, and NBu-LABNAc are potent and selective inhibitors of beta-N-acetylhexosaminidase and may be useful as therapeutic agents for treating adult Tay-Sachs and Sandhoff diseases.

A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease.

Science.gov (United States)

Martino, S; Marconi, P; Tancini, B; Dolcetta, D; De Angelis, M G Cusella; Montanucci, P; Bregola, G; Sandhoff, K; Bordignon, C; Emiliani, C; Manservigi, R; Orlacchio, A

2005-08-01

Therapy for neurodegenerative lysosomal Tay-Sachs (TS) disease requires active hexosaminidase (Hex) A production in the central nervous system and an efficient therapeutic approach that can act faster than human disease progression. We combined the efficacy of a non-replicating Herpes simplex vector encoding for the Hex A alpha-subunit (HSV-T0alphaHex) and the anatomic structure of the brain internal capsule to distribute the missing enzyme optimally. With this gene transfer strategy, for the first time, we re-established the Hex A activity and totally removed the GM2 ganglioside storage in both injected and controlateral hemispheres, in the cerebellum and spinal cord of TS animal model in the span of one month's treatment. In our studies, no adverse effects were observed due to the viral vector, injection site or gene expression and on the basis of these results, we feel confident that the same approach could be applied to similar diseases involving an enzyme defect.

Serial CT scans and MRI scans of Tay-Sachs disease

International Nuclear Information System (INIS)

Shimoizumi, Hideo; Miyao, Masutomo; Ichihashi, Koh; Sawa, Rituko; Yamamoto, Yoshifumi; Tanaka, Osamu; Yanagisawa, Masayoshi; Kamoshita, Shigehiko.

1986-01-01

Serial X-ray CT and MRI were performed on 2 cases of Tay-Sachs disease. Case 1 : a 3-year-10-month-old girl. Her developmental milestones were normal until the age of 6 months. At the age of 10 months, hypotonia and unduly sensitiveness to sounds were noticed. She had cherry red spots in both fundi, and the serum hexosaminidase A activity was low. Significant clinical features during the next 3 years included regression of developmental milestones to the level of one month, and myoclonic and generalised seizures. After 3 years she showed megalencephaly, unstable body temperature, and respiratory disorders. Case 2 : a 2-year-6-month-old boy. His developmental milestones were normal until the age of 5 months. Then he manifested hyperreaction to noises and further developments ceased. He started to deteriorate from the age of 1 year and 2 months, and had no head control at the age of 1 year and 6 months. Cherry red spots were detected and the serum hexsosaminidase A activity was low, too. X-ray CT at the early stage of cases 1 and 2 showed mild cerebral atrophy and high density areas in bilateral thalami and basal ganglia. At the late stage of Case 1, high density areas appeared in occipital and frontal white matters. MRI in both patients were strikingly similar. In their grey matters, linear light areas were demonstrated on IR images. Their white matters showed extensive dark (long T 1 ) areas on IR images, and extensive light (long T 2 ) areas on SE images. Bilateral thalami and basal ganglia were light on IR images and dark on SE images. The findings of MRI in our patients seemed to correlate well with pathological and biochemical changes in their brains. (author)

Memory effects of transformation textures in steel and its prediction by the double Kurdjumov–Sachs relation

International Nuclear Information System (INIS)

Tomida, T.; Wakita, M.; Yasuyama, M.; Sugaya, S.; Tomota, Y.; Vogel, S.C.

2013-01-01

The phenomenon that the transformation texture near the initial texture reproduces after the phase transformation cycle such as ferrite (α, body-centered cubic) → austenite (γ, face-centered cubic) → α is called a texture memory. In this study, the texture change in a 0.1% C–1% Mn hot-rolled steel sheet during the α → γ → α transformation cycle was studied via neutron diffraction and the transformation texture prediction based on a variant selection rule that we call the double Kurdjumov–Sachs (K–S) relation. The texture change observed by neutron diffraction, which clearly showed the texture memory, could be quantitatively reproduced by the proposed variant selection rule adopted into the calculation method based on the spherical harmonics expansion of orientation distribution functions. Therefore, it is most likely that the texture memory in steel is caused by the preferential selection of those K–S variants that reduce the interfacial energy between a precipitate and two adjoining parent phase grains at the same time, which we call the double K–S relation

Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.

Science.gov (United States)

Haghighi, Alireza; Masri, Amira; Kornreich, Ruth; Desnick, Robert J

2011-12-01

Tay-Sachs disease (TSD), a pan-ethnic, autosomal recessive, neurodegenerative, lysosomal disease, results from deficient β-hexosaminidase A activity due to β-hexosaminidase α-subunit (HEXA) mutations. Prenatal/premarital carrier screening programs in the Ashkenazi Jewish community have markedly reduced disease occurrence. We report the first Jordanian Arab TSD patient diagnosed by deficient β-hexosaminidase A activity. HEXA mutation analysis revealed homozygosity for a nonsense mutation, c.78G>A (p.W26X). Previously reported in Arab patients, this mutation is a candidate for TSD screening in Arab populations. Copyright © 2011 Elsevier Inc. All rights reserved.

Peculiar velocity measurement in a clumpy universe

Science.gov (United States)

Habibi, Farhang; Baghram, Shant; Tavasoli, Saeed

Aims: In this work, we address the issue of peculiar velocity measurement in a perturbed Friedmann universe using the deviations from measured luminosity distances of standard candles from background FRW universe. We want to show and quantify the statement that in intermediate redshifts (0.5 deviations from the background FRW model are not uniquely governed by peculiar velocities. Luminosity distances are modified by gravitational lensing. We also want to indicate the importance of relativistic calculations for peculiar velocity measurement at all redshifts. Methods: For this task, we discuss the relativistic correction on luminosity distance and redshift measurement and show the contribution of each of the corrections as lensing term, peculiar velocity of the source and Sachs-Wolfe effect. Then, we use the SNe Ia sample of Union 2, to investigate the relativistic effects, we consider. Results: We show that, using the conventional peculiar velocity method, that ignores the lensing effect, will result in an overestimate of the measured peculiar velocities at intermediate redshifts. Here, we quantify this effect. We show that at low redshifts the lensing effect is negligible compare to the effect of peculiar velocity. From the observational point of view, we show that the uncertainties on luminosity of the present SNe Ia data prevent us from precise measuring the peculiar velocities even at low redshifts (z < 0.2).

Adeno-Associated Virus Gene Therapy in a Sheep Model of Tay-Sachs Disease.

Science.gov (United States)

Gray-Edwards, Heather L; Randle, Ashley N; Maitland, Stacy A; Benatti, Hector R; Hubbard, Spencer M; Canning, Peter F; Vogel, Matthew B; Brunson, Brandon L; Hwang, Misako; Ellis, Lauren E; Bradbury, Allison M; Gentry, Atoska S; Taylor, Amanda R; Wooldridge, Anne A; Wilhite, Dewey R; Winter, Randolph L; Whitlock, Brian K; Johnson, Jacob A; Holland, Merilee; Salibi, Nouha; Beyers, Ronald J; Sartin, James L; Denney, Thomas S; Cox, Nancy R; Sena-Esteves, Miguel; Martin, Douglas R

2018-03-01

Tay-Sachs disease (TSD) is a fatal neurodegenerative disorder caused by a deficiency of the enzyme hexosaminidase A (HexA). TSD also occurs in sheep, the only experimental model of TSD that has clinical signs of disease. The natural history of sheep TSD was characterized using serial neurological evaluations, 7 Tesla magnetic resonance imaging, echocardiograms, electrodiagnostics, and cerebrospinal fluid biomarkers. Intracranial gene therapy was also tested using AAVrh8 monocistronic vectors encoding the α-subunit of Hex (TSD α) or a mixture of two vectors encoding both the α and β subunits separately (TSD α + β) injected at high (1.3 × 10 13 vector genomes) or low (4.2 × 10 12 vector genomes) dose. Delay of symptom onset and/or reduction of acquired symptoms were noted in all adeno-associated virus-treated sheep. Postmortem evaluation showed superior HexA and vector genome distribution in the brain of TSD α + β sheep compared to TSD α sheep, but spinal cord distribution was low in all groups. Isozyme analysis showed superior HexA formation after treatment with both vectors (TSD α + β), and ganglioside clearance was most widespread in the TSD α + β high-dose sheep. Microglial activation and proliferation in TSD sheep-most prominent in the cerebrum-were attenuated after gene therapy. This report demonstrates therapeutic efficacy for TSD in the sheep brain, which is on the same order of magnitude as a child's brain.

Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.

Science.gov (United States)

Mehta, Nikita; Lazarin, Gabriel A; Spiegel, Erica; Berentsen, Kathleen; Brennan, Kelly; Giordano, Jessica; Haque, Imran S; Wapner, Ronald

2016-09-01

Carrier screening for Tay-Sachs disease is performed by sequence analysis of the HEXA gene and/or hexosaminidase A enzymatic activity testing. Enzymatic analysis (EA) has been suggested as the optimal carrier screening method, especially in non-Ashkenazi Jewish (non-AJ) individuals, but its utilization and efficacy have not been fully evaluated in the general population. This study assesses the reliability of EA in comparison with HEXA sequence analysis in non-AJ populations. Five hundred eight Hispanic and African American patients (516 samples) had EA of their leukocytes performed and 12 of these patients who tested positive by EA ("carriers") had subsequent HEXA gene sequencing performed. Of the 508 patients, 25 (4.9%) were EA positive and 40 (7.9%) were inconclusive. Of the 12 patients who were sequenced, 11 did not carry a pathogenic variant and one carried a likely deleterious mutation (NM_000520.4(HEXA):c.1510C>T). High inconclusive rates and poor correlation between positive/inconclusive enzyme results and identification of pathogenic mutations suggest that ethnic-specific recalibration of reference ranges for EA may be necessary. Alternatively, HEXA gene sequencing could be performed.

Health Advocacy Organizations and the Pharmaceutical Industry: An Analysis of Disclosure Practices

Science.gov (United States)

Raveis, Victoria H.; Friedman, Anne; Rothman, David J.

2011-01-01

Health advocacy organizations (HAOs) are influential stakeholders in health policy. Although their advocacy tends to closely correspond with the pharmaceutical industry's marketing aims, the financial relationships between HAOs and the pharmaceutical industry have rarely been analyzed. We used Eli Lilly and Company's grant registry to examine its grant-giving policies. We also examined HAO Web sites to determine their grant-disclosure patterns. Only 25% of HAOs that received Lilly grants acknowledged Lilly's contributions on their Web sites, and only 10% acknowledged Lilly as a grant event sponsor. No HAO disclosed the exact amount of a Lilly grant. As highly trusted organizations, HAOs should disclose all corporate grants, including the purpose and the amount. Absent this disclosure, legislators, regulators, and the public cannot evaluate possible conflicts of interest or biases in HAO advocacy. PMID:21233424

Magnification-temperature correlation: The dark side of integrated Sachs-Wolfe measurements

International Nuclear Information System (INIS)

LoVerde, Marilena; Hui, Lam; Gaztanaga, Enrique

2007-01-01

Integrated Sachs-Wolfe (ISW) measurements, which involve cross-correlating the microwave background anisotropies with the foreground large-scale structure (e.g. traced by galaxies/quasars), have proven to be an interesting probe of dark energy. We show that magnification bias, which is the inevitable modulation of the foreground number counts by gravitational lensing, alters both the scale dependence and amplitude of the observed ISW signal. This is true especially at high redshifts because (1) the intrinsic galaxy-temperature signal diminishes greatly back in the matter-dominated era, (2) the lensing efficiency increases with redshift and (3) the number count slope generally steepens with redshift in a magnitude limited sample. At z > or approx. 2, the magnification-temperature correlation dominates over the intrinsic galaxy-temperature correlation and causes the observed ISW signal to increase with redshift, despite dark energy subdominance--a result of the fact that magnification probes structures all the way from the observer to the sources. Ignoring magnification bias therefore can lead to (significantly) erroneous conclusions about dark energy. While the lensing modulation opens up an interesting high z window for ISW measurements, high redshift measurements are not expected to add much new information to low redshift ones if dark energy is indeed the cosmological constant. This is because lensing introduces significant covariance across redshifts. The most compelling reasons for pursuing high redshift ISW measurements are to look for potential surprises such as early dark energy domination or signatures of modified gravity. We conclude with a discussion of existing measurements, the highest redshift of which is at the margin of being sensitive to the magnification effect. We also develop a formalism which might be of more general interest: to predict biases in estimating parameters when certain physical effects are ignored in interpreting observations

Calligraphy and meditation for stress reduction: an experimental comparison

OpenAIRE

Kao, Henry; Zhu,Lin.; Chen,Hao Yi; Liu,Ivy C.Y.; Zhang,Manlin; Chao,An An

2014-01-01

Henry SR Kao,1 Lin Zhu,2 An An Chao,3 Hao Yi Chen,4 Ivy CY Liu,5 Manlin Zhang6 1Department of Social Work and Social Administration, University of Hong Kong, Hong Kong; 2Department of Psychology, Renmin University of China, Beijing, 3International Society of Calligraphy Therapy, Hong Kong; 4Department of Business Administration, National Chengchi University, Taipei, Taiwan, 5Department of Psychology, Fu Jen Catholic University, Taipei, Taiwan; 6Department of Psychology, Sun Yat-Sen University...

Journal of Chemical Sciences | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Chemical Sciences. Hao-Hao Hui. Articles written in Journal of Chemical Sciences. Volume 120 Issue 3 May 2008 pp 347-351. Microwave-assisted efficient oxidation of internal alkynes to 1,2-diaryldiketones with DMSO/I2 · Min Chen Qin Zhao De-Bing She Ming-Yu Yang Hao-Hao Hui ...

Effects of insulin analogs and glucagon-like peptide-1 receptor agonists on proliferation and cellular energy metabolism in papillary thyroid cancer

OpenAIRE

He, Liang; Zhang, Siliang; Zhang, Xiaowen; Liu, Rui; Guan, Haixia; Zhang, Hao

2017-01-01

Liang He,1,* Siliang Zhang,2,* Xiaowen Zhang,3 Rui Liu,2 Haixia Guan,2 Hao Zhang1 1Department of Thyroid Surgery, The First Hospital of China Medical University, Shenyang, Liaoning, 2Department of Endocrinology and Metabolism, The Endocrine Institute and The Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Hospital of China Medical University, Shenyang, Liaoning, 3Department of Endocrinology and Metabolism, Drum Tower Hospital Affiliated to Nanjing University Medical Schoo...

[beta]-hexosaminidase isozymes from cells cotransfected with [alpha] and [beta] cDNA constructs: Analysis of the [alpha]-subunit missense mutation associated with the adult form of Tay-Sachs disease

Energy Technology Data Exchange (ETDEWEB)

Brown, C.A.; Mahuran, D.J. (Univ. of Toronto (Canada))

1993-08-01

In vitro mutagenesis and transient expression in COS cells has been used to associate a missense mutation with a clinical or biochemical phenotype. Mutations affecting the [alpha]-subunit of [beta]-hexosaminidase A ([alpha][beta]) (E.C.3.2.1.52) result in Tay-Sachs disease. Because hexosaminidase A is heterodimeric, analysis of [alpha]-chain mutations is not straightforward. The authors examine three approaches utilizing previously identified mutations affecting [alpha]-chain folding. These involve transfection of (1) the [alpha] cDNA alone; (2) a [beta] cDNA construct encoding a [beta]-subunit substituted at a position homologous to that of the [alpha]-subunit, and (3) both [alpha] and [beta] cDNAs. The latter two procedures amplified residual activity levels over that of patient samples, an effect not previously found with mutations affecting an [open quotes]active[close quotes] [alpha]Arg residue. This effect may help to discriminate between protein-folding and active-site mutations. The authors conclude that, with proper controls, the latter method of cotransfection can be used to evaluate the effects and perhaps to predict the clinical course of some [alpha]-chain mutations. Using this technique, they demonstrate that the adult-onset Tay-Sachs mutation, [alpha]Gly[yields]Ser[sup 269], does not directly affect [alpha][beta] dimerization but exerts an indirect effect on the dimer through destabilizing the folded [alpha]-subunit at physiological temperatures. Two other [alpha] mutations linked to more severe phenotypes appear to inhibit the initial folding of the subunit. 36 refs., 2 figs., 5 tabs.

Planck 2015 results: XXI. The integrated Sachs-Wolfe effect

International Nuclear Information System (INIS)

Ade, P. A. R.; Aghanim, N.; Arnaud, M.; Ashdown, M.; Aumont, J.

2016-01-01

Here, this paper presents a study of the integrated Sachs-Wolfe (ISW) effect from the Planck 2015 temperature and polarization data release. This secondary cosmic microwave background (CMB) anisotropy caused by the large-scale time-evolving gravitational potential is probed from different perspectives. The CMB is cross-correlated with different large-scale structure (LSS) tracers: radio sources from the NVSS catalogue; galaxies from the optical SDSS and the infrared WISE surveys; and the Planck 2015 convergence lensing map. The joint cross-correlation of the CMB with the tracers yields a detection at 4σ where most of the signal-to-noise is due to the Planck lensing and the NVSS radio catalogue. In fact, the ISW effect is detected from the Planck data only at ≈3σ (through the ISW-lensing bispectrum), which is similar to the detection level achieved by combining the cross-correlation signal coming from all the galaxy catalogues mentioned above. We study the ability of the ISW effect to place constraints on the dark-energy parameters; in particular, we show that Ω Λ is detected at more than 3σ. This cross-correlation analysis is performed only with the Planck temperature data, since the polarization scales available in the 2015 release do not permit significant improvement of the CMB-LSS cross-correlation detectability. Nevertheless, the Planck polarization data are used to study the anomalously large ISW signal previously reported through the aperture photometry on stacked CMB features at the locations of known superclusters and supervoids, which is in conflict with ΛCDM expectations. We find that the current Planck polarization data do not exclude that this signal could be caused by the ISW effect. In addition, the stacking of the Planck lensing map on the locations of superstructures exhibits a positive cross-correlation with these large-scale structures. Finally, we have improved our previous reconstruction of the ISW temperature fluctuations by combining

Astragalus polysaccharides protect cardiac stem and progenitor cells by the inhibition of oxidative stress-mediated apoptosis in diabetic hearts

OpenAIRE

Chen,Wei; Ju,Jing; Yang,Yehong; Wang,Hao; Chen,Wenjie; Zhao,Xuelan; Ye,Hongying; Zhang,Yu

2018-01-01

Wei Chen,1 Jing Ju,1 Yehong Yang,2 Hao Wang,3 Wenjie Chen,1 Xuelan Zhao,1 Hongying Ye,2 Yu Zhang1 1Department of Geriatrics, Huashan Hospital, Fudan University, Shanghai, China; 2Department of Endocrinology, Huashan Hospital, Fudan University, Shanghai, China; 3Core Center of Animal Facility, School of Medicine, Fudan University, Shanghai, China Introduction: Diabetic cardiomyopathy is characterized by an imbalance between myocyte death and regeneration mediated by the progressive loss of c...

Transient HEXA expression in a transformed human fetal Tay-Sachs disease neuroglial cell line

Energy Technology Data Exchange (ETDEWEB)

Fernandes, M.J.; Hechtman, P.; Kaplan, F. [McGill Univ., Quebec (Canada)] [and others

1994-09-01

Tay-Sachs disease (TSD) is a severe neurodegenerative disorder characterized by the accumulation of GM{sub 2} ganglioside in the neurons of the central cortex. The recessively inherited disorder results from deficiency of hexosaminidase A (Hex A), a heterodimer of an {alpha} and {beta} subunit encoded by the HEXA and HEXB genes. Expression of HEXA mutations in COS cells has several disadvantages including high endogenous hexosaminidase activity. We report a new transient expression system with very low endogenous Hex A activity. An SV40-transformed fetal TSD neuroglial cell line was assessed for transient expression of the HEXA gene. pCMV{alpha}, a vector incorporating the cytomegalovirus promoter with the human {alpha}-subunit cDNA insert, proved to be the most efficient expression vector. Transfection of 4x10{sup 6} cells with 5-20 {mu}g of plasmid resulted in 100 to 500-fold Hex A activity (4MUGS hydrolysis) relative to mock-transfected cells. Use of pCMV{beta}-Gal as a control for transfection efficiency indicated that 10-20% of cells were transfected. Hex A specific activity increased for at least 72 h post-transfection. This new transient expression system should greatly improve the characterization of mutations in which low levels of HEXA expression result in milder clinical phenotypes and permit studies on enzymatic properties of mutant forms of Hex A. Since the cells used are of CNS origin and synthesize gangliosides, it should also be possible to study, in culture, the metabolic phenotype associated with TSD.

Harnessing supramolecular peptide nanotechnology in biomedical applications

OpenAIRE

Chan, Kiat Hwa; Lee, Wei Hao; Zhuo, Shuangmu; Ni, Ming

2017-01-01

Kiat Hwa Chan,1 Wei Hao Lee,2 Shuangmu Zhuo,3 Ming Ni3 1Division of Science, Yale-NUS College, Singapore; 2Department of Chemistry, Krieger School of Arts & Sciences, Johns Hopkins University, Baltimore, MD, USA; 3Fujian Provincial Key Laboratory for Photonics Technology, Key Laboratory of OptoElectronic Science and Technology for Medicine of Ministry of Education, Fujian Normal University, Fuzhou, People’s Republic of China Abstract: The harnessing of peptides in biomedic...

Molecular characterization of both alleles in an unusual Tay-Sachs disease BI variant

Energy Technology Data Exchange (ETDEWEB)

Coulter-Mackie, M.B. (Univ. of Western Ontario, London (Canada) Child Health Research Institute, Children' s Hospital of Western Ontario, London (Canada) Child Parent Resource Institute, London, Ontario (Canada))

1994-06-01

In a recent report, the authors described an exon 6 mutation in a Tay-Sachs B1 variant patient, first reported by Gordon et al. (1988), who displayed a typical B1 variant biochemical phenotype - i.e., (a) significant levels of hexosaminidase A (Hex A) activity in an assay with a neutral synthetic substrate, 4-methylumbelliferyl-[beta]-N-acetylglucosamide, and (b) <2% of control Hex A in a test on the sulfated substrate, 4-methylumbelliferyl-[beta]-N-acetylglucosamide-6-sulfate. The patient was found to carry a double mutation (G[sub 574][yields]C [val[sub 192][yields]leu] and G[sub 598][yields]A [val[sub 200][yields]met]) inherited from her mother. Only the 574 mutation produced a deleterious effect on Hex A activity in transfected COS0-1 cells, producing a B1 variant biochemical phenotype. The paternal allele apparently caused decreased abundance of mRNA, since no candidate paternal mutations were found in cloned reverse transcription-PCR (RT-PCR) products in the reported study. The biochemical phenotype of the original patient and the properties of the cDNA carrying the G[sub 574] [yields] C mutation in transient expression studies were compatible with a B1 variant mutation. The possibility remained that there might be some contribution from the paternal allele to the patient's phenotype. However, the paternal allele produces relatively low yields of a largely mis-spliced mRNA whose product would not be functional. Therefore, the G[sub 574] [yields] C (val[yields]leu) mutation in the maternal allele is clearly confirmed as a B1 variant mutation with all the ramifications for the substrate binding site and/or catalytic center that this implies.

Large-angle cosmic microwave background anisotropies in an open universe

Science.gov (United States)

Kamionkowski, Marc; Spergel, David N.

1994-01-01

If the universe is open, scales larger than the curvature scale may be probed by observation of large-angle fluctuations in the cosmic microwave background (CMB). We consider primordial adiabatic perturbations and discuss power spectra that are power laws in volume, wavelength, and eigenvalue of the Laplace operator. Such spectra may have arisen if, for example, the universe underwent a period of `frustated' inflation. The resulting large-angle anisotropies of the CMB are computed. The amplitude generally increases as Omega is decreased but decreases as h is increased. Interestingly enough, for all three Ansaetze, anisotropies on angular scales larger than the curvature scale are suppressed relative to the anisotropies on scales smaller than the curvature scale, but cosmic variance makes discrimination between various models difficult. Models with 0.2 approximately less than Omega h approximately less than 0.3 appear compatible with CMB fluctuations detected by Cosmic Background Explorer Satellite (COBE) and the Tenerife experiment and with the amplitude and spectrum of fluctuations of galaxy counts in the APM, CfA, and 1.2 Jy IRAS surveys. COBE normalization for these models yields sigma(sub 8) approximately = 0.5 - 0.7. Models with smaller values of Omega h when normalized to COBE require bias factors in excess of 2 to be compatible with the observed galaxy counts on the 8/h Mpc scale. Requiring that the age of the universe exceed 10 Gyr implies that Omega approximately greater than 0.25, while requiring that from the last-scattering term in the Sachs-Wolfe formula, large-angle anisotropies come primarily from the decay of potential fluctuations at z approximately less than 1/Omega. Thus, if the universe is open, COBE has been detecting temperature fluctuations produced at moderate redshift rather than at z approximately 1300.

Characterization and photocatalytic activity of boron-doped TiO2 thin ...

Indian Academy of Sciences (India)

Wintec

Chen Daimai, Wang Dong Yang and Jiang Zhongyi 2006 Ind. Eng. Chem. 45 4110. Cheng Jen-hao 2003 A study on photocatalytic oxidation of aque- ous chlorobenzene solution by nanostructured film of TiO2,. Master Thesis, National Sun Yat-Sen University, Taiwan. Deki S, Henin Yu Yu Ko, Fujita T, Akamatsu K, Mizuhata ...

Mortality incidence estimation using federal death certificate and natality data with an application to Tay-Sachs disease.

Science.gov (United States)

Jalal, Kabir; Carter, Randy L

2015-09-01

For confidentiality reasons, US federal death certificate data are incomplete with regards to the dates of birth and death for the decedents, making calculation of total lifetime of a decedent impossible and thus estimation of mortality incidence difficult. This paper proposes the use of natality data and an imputation-based method to estimate age-specific mortality incidence rates in the face of this missing information. By utilizing previously determined probabilities of birth, a birth date and death date are imputed for every decedent in the dataset. Thus, the birth cohort of each individual is imputed, and the total on-study time can be calculated. This idea is implemented in two approaches for estimation of mortality incidence rates. The first is an extension of a person-time approach, while the second is an extension of a life table approach. Monte Carlo simulations showed that both approaches perform well in comparison to the ideal complete data methods, but that the person-time method is preferred. An application to Tay-Sachs disease is demonstrated. It is concluded that the imputation methods proposed provide valid estimates of the incidence of death from death certificate data without the need for additional assumptions under which usual mortality rates provide valid estimates. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Multiscale Mathematics for Nano-Particle-Endowed Active Membranes and Films

Science.gov (United States)

2016-08-03

graduated and move on to either continue their postdoc training or working in universities and industries . The team has been very productive during...6402. 21. Hua Jiang, Hao Yang, Jun Zeng, Zhiyuan Zhou, Jin Peng, Qi Wang, Analytic Oncology, Electron J Metab Nutr Cancer，Jun. 2015，Vol. 2， No. 2, 26...approved for public release. 6 Hill, July 2016-present 2. Norazaliza Mond Gamil, PhD May 2015, Universiti Malaysia Pahang, 2015- present 3. Chen

Thermal Investigation of Three-Dimensional GaN-on-SiC High Electron Mobility Transistors

Science.gov (United States)

2017-07-01

University of L’Aquila, (2011). 23 Rao, H. & Bosman, G. Hot-electron induced defect generation in AlGaN/GaN high electron mobility transistors. Solid...AFRL-RY-WP-TR-2017-0143 THERMAL INVESTIGATION OF THREE- DIMENSIONAL GaN-on-SiC HIGH ELECTRON MOBILITY TRANSISTORS Qing Hao The University of Arizona...clarification memorandum dated 16 Jan 09. This report is available to the general public, including foreign nationals. Copies may be obtained from the

Tay–Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum–associated degradation

Science.gov (United States)

Dersh, Devin; Iwamoto, Yuichiro; Argon, Yair

2016-01-01

Loss of function of the enzyme β-hexosaminidase A (HexA) causes the lysosomal storage disorder Tay–Sachs disease (TSD). It has been proposed that mutations in the α chain of HexA can impair folding, enzyme assembly, and/or trafficking, yet there is surprisingly little known about the mechanisms of these potential routes of pathogenesis. We therefore investigated the biosynthesis and trafficking of TSD-associated HexA α mutants, seeking to identify relevant cellular quality control mechanisms. The α mutants E482K and G269S are defective in enzymatic activity, unprocessed by lysosomal proteases, and exhibit altered folding pathways compared with wild-type α. E482K is more severely misfolded than G269S, as observed by its aggregation and inability to associate with the HexA β chain. Importantly, both mutants are retrotranslocated from the endoplasmic reticulum (ER) to the cytosol and are degraded by the proteasome, indicating that they are cleared via ER-associated degradation (ERAD). Leveraging these discoveries, we observed that manipulating the cellular folding environment or ERAD pathways can alter the kinetics of mutant α degradation. Additionally, growth of patient fibroblasts at a permissive temperature or with chemical chaperones increases cellular Hex activity by improving mutant α folding. Therefore modulation of the ER quality control systems may be a potential therapeutic route for improving some forms of TSD. PMID:27682588

Assessing the potential success of cystic fibrosis carrier screening: lessons learned from Tay-Sachs disease and beta-thalassemia.

Science.gov (United States)

Laberge, A-M; Watts, C; Porter, K; Burke, W

2010-01-01

The objective of this study was to identify factors involved in the success of 2 well-established population-based carrier screening programs - Tay-Sachs disease (TSD) in Ashkenazi Jews and beta-thalassemia in Sardinia and Cyprus - and to assess the potential for success of a population-based cystic fibrosis (CF) carrier screening strategy using these factors. We performed a literature review and key informant interviews. Factors involved in the success of TSD and beta-thalassemia carrier screening programs include disease characteristics (well-defined population at risk, severe disease with predictable course, availability of effective treatment), test characteristics (high sensitivity, straightforward interpretation of results), and community characteristics (involvement of community, support of families and advocacy groups, consensus in favor of avoiding affected births). Current CF screening strategies include few of the factors listed above. Unlike TSD and beta-thalassemia, the purpose of current CF carrier screening strategies is informed reproductive decision-making, without an explicit goal of reducing disease incidence. When compared to TSD and beta-thalassemia, CF is a less favorable candidate for population-based carrier screening. Because of its different purpose, CF carrier screening will require different measures of success than those used for TSD and beta-thalassemia carrier screening, and a consensus on the value or success of CF carrier screening may be difficult to achieve.

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

Science.gov (United States)

Zeesman, Susan; McCready, Elizabeth; Sadikovic, Bekim; Nowaczyk, Małgorzata Jm

2015-01-01

Malsegregation of chromosomes during reproduction can result in uniparental disomy when associated with trisomy rescue, monosomy rescue or gamete complementation. Pathogenicity stemming from uniparental disomy in liveborns results from imprinting disorders or autozygosity for autosomal recessive disorders. We report on a girl with Prader-Willi syndrome and Tay-Sachs disease resulting from maternal uniparental disomy of chromosome 15. The child also had an isochromosome Xq. To further characterize the etiology of the aberrant chromosome 15 and the isochromosome Xq, SNP loci from both chromosomes were assessed in the proband and parents, and genome-wide DNA methylation analysis was performed. SNP and DNA methylation analysis confirmed maternal uniparental heterodisomy around the Prader-Willi locus, while the region around the HEXA locus showed maternal uniparental isodisomy. This result is consistent with trisomy rescue of a maternal meiosis l error in a chromosome 15 with two meiotic recombinations. SNP analysis of the X chromosomes is consistent with a maternal origin for the isochromosome. © 2014 Wiley Periodicals, Inc.

Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews.

Science.gov (United States)

Lew, Raelia M; Proos, Anne L; Burnett, Leslie; Delatycki, Martin; Bankier, Agnes; Fietz, Michael J

2012-12-10

To evaluate the outcomes of preconception screening of Jewish Australians for Tay Sachs disease (TSD) carrier status on Jewish TSD-affected births. Epidemiological observational study involving a complete retrospective audit of infantile and intermediate TSD cases diagnosed in Sydney and Melbourne between 1 January 1995 and 31 December 2011 (Royal Children's Hospital Melbourne; Pacific Laboratory Medicine Services, Pathology North, NSW Health Pathology, Sydney; Victorian Clinical Genetics Services, Melbourne; and SA Pathology, Adelaide), and carrier frequency among Jewish high school students attending schools participating in TSD screening programs over the same period. Jewish TSD carrier frequency; and expected versus observed Jewish TSD-affected births. The 2006 Census indicated that most of the total 88,826 Jewish Australians live in Melbourne (46%) and Sydney (40%). The 7,756 Jewish high school students screened for TSD in Sydney and Melbourne during the study period had a carrier frequency of one in 31 (3.26%; 95% CI, 2.89%-3.68%).The estimated expected number of TSD-affected births in Melbourne and Sydney in 1995-2011 was 4.1 for Jewish births and 7.4 for other births (a ratio of Jewish to non-Jewish births of 1:2). The actual number was 12 (four in Sydney and eight in Melbourne), of which two were Jewish (a ratio of Jewish to non-Jewish births of 1:5). This finding of fewer than expected Jewish TSD cases coincided with a period during which screening programs were operating. There have been no Jewish TSD-affected children born to parents who were screened previously. Community education, appreciation of autosomal recessive inheritance and genetic carrier screening before pregnancy are the likely factors in our finding of fewer than expected Jewish babies with TSD. Ongoing outcome monitoring must continue.

Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage

OpenAIRE

Lew, Raelia; Burnett, Leslie; Proos, Anné

2011-01-01

The Australasian Community Genetics Program provided a preconception screening for Tay-Sachs disease (TSD) to 4,105 Jewish high school students in Sydney and Melbourne over the 12-year period 1995–2007. By correlating the frequencies of mutant HEXA, MIM *606869 (gene map locus 15q23-q24) alleles with subjects’ nominated ethnicity (Ashkenazi/Sephardi/Mixed) and grandparental birthplaces, we established that Ashkenazi ethnicity is a better predictor of TSD carrier status than grandparental ance...

Imaging MALDI mass spectrometry using an oscillating capillary nebulizer matrix coating system and its application to analysis of lipids in brain from a mouse model of Tay-Sachs/Sandhoff disease.

Science.gov (United States)

Chen, Yanfeng; Allegood, Jeremy; Liu, Ying; Wang, Elaine; Cachón-Gonzalez, Begoña; Cox, Timothy M; Merrill, Alfred H; Sullards, M Cameron

2008-04-15

The quality of tissue imaging by matrix-assisted laser desorption/ionization mass spectrometry (MALDI-MS) depends on the effectiveness of the matrix deposition, especially for lipids that may dissolve in the solvent used for the matrix application. This article describes the use of an oscillating capillary nebulizer (OCN) to spray small droplets of matrix aerosol onto the sample surface for improved matrix homogeneity, reduced crystal size, and controlled solvent effects. This system was then applied to the analysis of histological slices of brains from mice with homozygous disruption of the hexb gene (hexb-/-), a model of Tay-Sachs and Sandhoff disease, versus the functionally normal heterozygote (hexb+/-) by imaging MALDI-MS. This allowed profiling and localization of many different lipid species, and of particular interest, ganglioside GM2, asialo-GM2 (GA2), and sulfatides (ST). The presence of these compounds was confirmed by analysis of brain extracts using electrospray ionization in conjunction with tandem mass spectrometry (MS/MS). The major fatty acid of the ceramide backbone of both GM2 and GA2 was identified as stearic acid (18:0) versus nervonic acid (24:1) for ST by both tissue-imaging MS and ESI-MS/MS. GM2 and GA2 were highly elevated in hexb-/- and were both localized in the granular cell region of the cerebellum. ST, however, was localized mainly in myelinated fiber (white matter) region of the cerebellum as well as in the brain stem with a relatively uniform distribution and had similar relative signal intensity for both hexb+/- and hexb-/- brain. It was also observed that there were distinct localizations for numerous other lipid subclasses; hence, imaging MALDI-MS could be used for "lipidomic" studies. These results illustrate the usefulness of tissue-imaging MALDI-MS with matrix deposition by OCN for histologic comparison of lipids in tissues such as brains from this mouse model of Tay-Sachs and Sandhoff disease.

Updated tomographic analysis of the integrated Sachs-Wolfe effect and implications for dark energy

Science.gov (United States)

Stölzner, Benjamin; Cuoco, Alessandro; Lesgourgues, Julien; Bilicki, Maciej

2018-03-01

We derive updated constraints on the integrated Sachs-Wolfe (ISW) effect through cross-correlation of the cosmic microwave background with galaxy surveys. We improve with respect to similar previous analyses in several ways. First, we use the most recent versions of extragalactic object catalogs, SDSS DR12 photometric redshift (photo-z ) and 2MASS Photo-z data sets, as well as those employed earlier for ISW, SDSS QSO photo-z and NVSS samples. Second, we use for the first time the WISE × SuperCOSMOS catalog, which allows us to perform an all-sky analysis of the ISW up to z ˜0.4 . Third, thanks to the use of photo-z s , we separate each data set into different redshift bins, deriving the cross-correlation in each bin. This last step leads to a significant improvement in sensitivity. We remove cross-correlation between catalogs using masks which mutually exclude common regions of the sky. We use two methods to quantify the significance of the ISW effect. In the first one, we fix the cosmological model, derive linear galaxy biases of the catalogs, and then evaluate the significance of the ISW using a single parameter. In the second approach we perform a global fit of the ISW and of the galaxy biases varying the cosmological model. We find significances of the ISW in the range 4.7 - 5.0 σ thus reaching, for the first time in such an analysis, the threshold of 5 σ . Without the redshift tomography we find a significance of ˜4.0 σ , which shows the importance of the binning method. Finally we use the ISW data to infer constraints on the dark energy redshift evolution and equation of state. We find that the redshift range covered by the catalogs is still not optimal to derive strong constraints, although this goal will be likely reached using future datasets such as from Euclid, LSST, and SKA.

Reduction of nitric oxide catalyzed by hydroxylamine oxidoreductase from an anammox bacterium.

Science.gov (United States)

Irisa, Tatsuya; Hira, Daisuke; Furukawa, Kenji; Fujii, Takao

2014-12-01

The hydroxylamine oxidoreductase (HAO) from the anammox bacterium, Candidatus Kuenenia stuttgartiensis has been reported to catalyze the oxidation of hydroxylamine (NH2OH) to nitric oxide (NO) by using bovine cytochrome c as an oxidant. In contrast, we investigated whether the HAO from anammox bacterium strain KSU-1 could catalyze the reduction of NO with reduced benzyl viologen (BVred) and the NO-releasing reagent, NOC 7. The reduction proceeded, resulting in the formation of NH2OH as a product. The oxidation rate of BVred was proportional to the concentration of BVred itself for a short period in each experiment, a situation that was termed quasi-steady state. The analyses of the states at various concentrations of HAO allowed us to determine the rate constant for the catalytic reaction, (2.85 ± 0.19) × 10(5) M(-1) s(-1), governing NO reduction by BVred and HAO, which was comparable to that reported for the HAO from the ammonium oxidizer, Nitrosomonas with reduced methyl viologen. These results suggest that the anammox HAO functions to adjust anammox by inter-conversion of NO and NH2OH depending on the redox potential of the physiological electron transfer protein in anammox bacteria. Copyright © 2014 The Society for Biotechnology, Japan. Published by Elsevier B.V. All rights reserved.

Plug-and-play monitoring and performance optimization for industrial automation processes

CERN Document Server

Luo, Hao

2017-01-01

Dr.-Ing. Hao Luo demonstrates the developments of advanced plug-and-play (PnP) process monitoring and control systems for industrial automation processes. With aid of the so-called Youla parameterization, a novel PnP process monitoring and control architecture (PnP-PMCA) with modularized components is proposed. To validate the developments, a case study on an industrial rolling mill benchmark is performed, and the real-time implementation on a laboratory brushless DC motor is presented. Contents PnP Process Monitoring and Control Architecture Real-Time Configuration Techniques for PnP Process Monitoring Real-Time Configuration Techniques for PnP Performance Optimization Benchmark Study and Real-Time Implementation Target Groups Researchers and students of Automation and Control Engineering Practitioners in the area of Industrial and Production Engineering The Author Hao Luo received the Ph.D. degree at the Institute for Automatic Control and Complex Systems (AKS) at the University of Duisburg-Essen, Germany, ...

Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.

Science.gov (United States)

Zampieri, Stefania; Montalvo, Annalisa; Blanco, Mariana; Zanin, Irene; Amartino, Hernan; Vlahovicek, Kristian; Szlago, Marina; Schenone, Andrea; Pittis, Gabriela; Bembi, Bruno; Dardis, Andrea

2012-05-15

Tay-Sachs disease (TSD) is a recessively inherited disorder caused by the deficient activity of hexosaminidase A due to mutations in the HEXA gene. Up to date there is no information regarding the molecular genetics of TSD in Argentinean patients. In the present study we have studied 17 Argentinean families affected by TSD, including 20 patients with the acute infantile form and 3 with the sub-acute form. Overall, we identified 14 different mutations accounting for 100% of the studied alleles. Eight mutations were novel: 5 were single base changes leading to drastic residue changes or truncated proteins, 2 were small deletions and one was an intronic mutation that may cause a splicing defect. Although the spectrum of mutations was highly heterogeneous, a high frequency of the c.459+5G>A mutation, previously described in different populations was found among the studied cohort. Haplotype analysis suggested that in these families the c.459+5G>A mutation might have arisen by a single mutational event. Copyright © 2012 Elsevier B.V. All rights reserved.

Particle Physics at the University of Pittsburgh Summary Report for Proposal Period FY'09-11

Energy Technology Data Exchange (ETDEWEB)

Boudreau, Joe [Univ. of Pittsburgh, PA (United States); Dytman, Steven [Univ. of Pittsburgh, PA (United States); Mueller, James [Univ. of Pittsburgh, PA (United States); Naples, Donna [Univ. of Pittsburgh, PA (United States); Paolone, Vittorio [Univ. of Pittsburgh, PA (United States); Savinov, Vladimir [Univ. of Pittsburgh, PA (United States)

2012-10-01

Presented is the final summary report for grant DOE-FG02-91ER40646. The HEP group at the University consists of three tasks: B,D and L. Task B supports Pitt's CDF group at the energy frontier which includes Joe Boudreau and Paul Shepard. Work of the group includes Hao Song's thesis on the measurement of the B_c lifetime using exclusive J/psi+pion decays, and an update of the previous B_c semi-leptonic analyses under the supervision of Paul Shepard. Task D supports Pitt's neutrino group at the intensity frontier which includes PIs Dytman, Naples and Paolone. The group also includes postdoctoral research associate Danko, and thesis students Isvan (MINOS), Eberly (Minerva ), Ren (Minerva )and Hansen (T2K). This report summarizes their progress on ongoing experiments which are designed to make significant contributions to a detailed understanding of the neutrino mixing matrix. Task L supports Pitt's ATLAS group at the energy frontier and includes investigators Vladimir Savinov, James Mueller and Joe Boudreau. This group contributed both to hardware (calorimeter electronics, Savinov) and to software (Simulation, Detector Description, and Visualization: Boudreau and Mueller; MC generators: Savinov) and a summary of their progress is presented.

Influence of defect size and localization on the engagement of reverse Hill-Sachs lesions.

Science.gov (United States)

Moroder, Philipp; Runer, Armin; Kraemer, Manuel; Fierlbeck, Johann; Niederberger, Alfred; Cotofana, Sebastian; Vasvari, Imre; Hettegger, Bernhard; Tauber, Mark; Hurschler, Christof; Resch, Herbert

2015-03-01

Reverse Hill-Sachs (RHS) lesions can cause recurrent posterior shoulder instability because of engagement with the posterior glenoid rim; however, the effect of defect size and localization have yet to be determined. Both size and localization are critical for the engagement of an RHS defect with the posterior glenoid rim. Controlled laboratory study. Ten RHS defects with predefined extent and localization were created through an anterolateral rotator cuff sparing approach in 10 fresh-frozen cadaveric shoulder specimens using a custom-made saw guide. Computed tomography scans of all specimens were completed, and standardized measurements were performed to determine the size (alpha angle) and localization (beta angle) of the defect as well as a combination of both parameters (gamma angle). Internal rotation motions were imposed on the shoulder joint in different arm positions and with varying amount of posterior translation by means of a robot-assisted shoulder simulator. The association between engagement of the defects and the defined parameters (alpha, beta, and gamma angles) was analyzed. In 0° of abduction, a cutoff value between engaging and nonengaging defects of 37.5° for the alpha angle (100% sensitivity; 75% specificity; area under the curve [AUC], 0.875; P = .055) and 36.5° for the beta angle (100% sensitivity; 25% specificity; AUC, 0.708; P = .286) was determined. The gamma angle showed the highest discriminatory power (AUC, 0.938; P = .025) with a cutoff value of 85.5° rendering 100% sensitivity and 75% specificity in the prediction of engagement. An increase in the applied posterior translation force decreased the degrees of internal rotation necessary before engagement occurred. No engagement occurred during internal rotation with the arm in 60° of abduction or 60° of flexion. The size and localization of RHS defects are both critical factors for engagement. The combination of both parameters in terms of the gamma angle measurement might be a

A Drosophila protein family implicated in pheromone perception is related to Tay-Sachs GM2-activator protein.

Science.gov (United States)

Starostina, Elena; Xu, Aiguo; Lin, Heping; Pikielny, Claudio W

2009-01-02

Low volatility, lipid-like cuticular hydrocarbon pheromones produced by Drosophila melanogaster females play an essential role in triggering and modulating mating behavior, but the chemosensory mechanisms involved remain poorly understood. Recently, we showed that the CheB42a protein, which is expressed in only 10 pheromone-sensing taste hairs on the front legs of males, modulates progression to late stages of male courtship behavior in response to female-specific cuticular hydrocarbons. Here we report that expression of all 12 genes in the CheB gene family is predominantly or exclusively gustatory-specific, and occurs in many different, often non-overlapping patterns. Only the Gr family of gustatory receptor genes displays a comparable variety of gustatory-specific expression patterns. Unlike Grs, however, expression of all but one CheB gene is sexually dimorphic. Like CheB42a, other CheBs may therefore function specifically in gustatory perception of pheromones. We also show that CheBs belong to the ML superfamily of lipid-binding proteins, and are most similar to human GM2-activator protein (GM2-AP). In particular, GM2-AP residues involved in ligand binding are conserved in CheBs but not in other ML proteins. Finally, CheB42a is specifically secreted into the inner lumen of pheromone-sensing taste hairs, where pheromones interact with membrane-bound receptors. We propose that CheB proteins interact directly with lipid-like Drosophila pheromones and modulate their detection by the gustatory signal transduction machinery. Furthermore, as loss of GM2-AP in Tay-Sachs disease prevents degradation of GM2 gangliosides and results in neurodegeneration, the function of CheBs in pheromone response may involve biochemical mechanisms critical for lipid metabolism in human neurons.

A Drosophila Protein Family Implicated in Pheromone Perception Is Related to Tay-Sachs GM2-Activator Protein*

Science.gov (United States)

Starostina, Elena; Xu, Aiguo; Lin, Heping; Pikielny, Claudio W.

2009-01-01

Low volatility, lipid-like cuticular hydrocarbon pheromones produced by Drosophila melanogaster females play an essential role in triggering and modulating mating behavior, but the chemosensory mechanisms involved remain poorly understood. Recently, we showed that the CheB42a protein, which is expressed in only 10 pheromone-sensing taste hairs on the front legs of males, modulates progression to late stages of male courtship behavior in response to female-specific cuticular hydrocarbons. Here we report that expression of all 12 genes in the CheB gene family is predominantly or exclusively gustatory-specific, and occurs in many different, often non-overlapping patterns. Only the Gr family of gustatory receptor genes displays a comparable variety of gustatory-specific expression patterns. Unlike Grs, however, expression of all but one CheB gene is sexually dimorphic. Like CheB42a, other CheBs may therefore function specifically in gustatory perception of pheromones. We also show that CheBs belong to the ML superfamily of lipid-binding proteins, and are most similar to human GM2-activator protein (GM2-AP). In particular, GM2-AP residues involved in ligand binding are conserved in CheBs but not in other ML proteins. Finally, CheB42a is specifically secreted into the inner lumen of pheromone-sensing taste hairs, where pheromones interact with membrane-bound receptors. We propose that CheB proteins interact directly with lipid-like Drosophila pheromones and modulate their detection by the gustatory signal transduction machinery. Furthermore, as loss of GM2-AP in Tay-Sachs disease prevents degradation of GM2 gangliosides and results in neurodegeneration, the function of CheBs in pheromone response may involve biochemical mechanisms critical for lipid metabolism in human neurons. PMID:18952610

Adsorption of lithium ion to amorphous hydrous aluminium oxide

International Nuclear Information System (INIS)

Wada, Hideo; Kitamura, Takao; Fujii, Ayako; Katoh, Shunsaku

1982-01-01

Adsorption process of lithium ion to amorphous hydrous aluminium oxide (a-HAO) was investigated by pH titration method with lithium chloride-lithium hydroxide mixed solution and X-ray diffraction analysis of a-HAO after pH titration. In the pH titration, the addition of hydroxide ion in amount from 0 to 4.0 mmol.g -1 gave no change to the pH of the solution and caused adsorption of lithium ion equivalent in amount to added hydroxide ion. X-ray diffraction analysis showed the formation of lithium hydrogenaluminate LiH (AlO 2 ) 2 .5H 2 O (LHA) in the a-HAO after pH titration. These results showed that adsorption of lithium ion by a-HAO was related to a reaction which consumed hydroxide ion and formed LHA. In order to elucidate detail process of the reaction, changes of pH, aluminium concentration and lithium concentration of the solution, respectively with time, were determined. The pH of the solution decreased in two stages. At the first stage of the pH decrease, the aluminium concentration increased whereas the lithium concentration did not change. At the second stage, the lithium concentration decreased together with the decrease of the aluminium concentration. It was inferred that adsorption of lithium ion proceeded through dissolution of a-HAO and precipitation of LHA. Theoretical adsorption capacity calculated from the above formula for LHA and aluminium content in a-HAO was 4.7 mmol.g -1 and agreed fairly well with observed value 4.0 mmol.g -1 . (author)

Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.

Science.gov (United States)

Vallance, Hilary; Morris, Tara J; Coulter-Mackie, Marion; Lim-Steele, Joyce; Kaback, Michael

2006-02-01

A DNA-proven Tay-Sachs disease (TSD) carrier and his brother were found to have serum percent Hexosaminidase A (%HexA) enzymatic activities in the non-carrier range, while the leukocyte %HexA profiles clearly identified them as TSD heterozygotes. Both their serum HexA and HexB enzymatic activities were below reference range, suggesting inheritance of mutations in both the HEXA (alpha-subunit) and HEXB (beta-subunit) genes. DNA sequencing revealed that both individuals, carried the common HEXA 1277_1278insTATC mutation, and two common HEXB polymorphisms: [619A>G (+) delTG]. To determine if these HEXB polymorphisms reduce HexA and HexB enzymatic activities, 69 DNA samples from subjects previously screened enzymatically in both serum and leukocytes for TSD carrier status were selected for either high, mid-range or low serum Total Hex (defined as the sum of HexA and HexB) activities and were tested for the HEXB mutations. Further, three additional TSD carriers ascertained by the atypical pattern of normal serum %HexA but carrier leukocyte %HexA, were found to have the [delTG (+) 619A>G] genotype. In addition, the frequency of the [delTG (+) 619A>G] genotype was significantly higher (P G] haplotype in the Ashkenazi Jewish population (approximately 10%), up to 10% of TSD carriers may have normal serum %HexA values with low total Hex. Accordingly, serum %HexA should not be the sole criterion used for carrier status determination. Where total Hex activity is reduced, further testing with leukocyte Hex profiles is indicated.

Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.

Science.gov (United States)

Martin, Dianna C; Mark, Brian L; Triggs-Raine, Barbara L; Natowicz, Marvin R

2007-03-01

The assessment of risk for Tay-Sachs disease (TSD) in individuals of French Canadian background living in New England is an important health issue. In preliminary studies of the enzyme-defined carrier frequency for TSD among Franco-Americans in New England, we found frequencies (1:53) higher than predicted from the incidence of infantile TSD in this region. We have now further evaluated the risk for TSD in the Franco-American population of New England. Using a fluorescence-based assay for beta-hexosaminidase activity, we determined the carrier frequencies for TSD in 2783 Franco-Americans. DNA analysis was used to identify mutations causing enzyme deficiency in TSD carriers. We determined the enzyme-defined carrier frequency for TSD as 1:65 (95% confidence interval 1:49 to 1:90). DNA-based analysis of 24 of the enzyme-defined carriers revealed 21 with sequence changes: 9 disease-causing, 4 benign, and 8 of unknown significance. Six of the unknowns were identified as c.748G>A p.G250S, a mutation we show by expression analysis to behave similarly to the previously described c.805G>A p.G269S adult-onset TSD mutation. This putative adult-onset TSD c.748G>A p.G250S mutation has a population frequency similar to the common 7.6 kb deletion mutation that occurs in persons of French Canadian ancestry. We estimate the frequency of deleterious TSD alleles in Franco-Americans to be 1:73 (95% confidence interval 1:55 to 1:107). These data provide a more complete data base from which to formulate policy recommendations regarding TSD heterozygosity screening in individuals of French Canadian background.

Heterotrophic nitrogen removal in Bacillus sp. K5: involvement of a novel hydroxylamine oxidase.

Science.gov (United States)

Yang, Yunlong; Lin, Ershu; Huang, Shaobin

2017-12-01

An aerobic denitrifying bacterium isolated from a bio-trickling filter treating NOx, Bacillus sp. K5, is able to convert ammonium to nitrite, in which hydroxylamine oxidase (HAO) plays a critical role. In the present study, the performance for simultaneous nitrification and denitrification was investigated with batch experiments and an HAO was purified by an anion-exchange and gel-filtration chromatography from strain K5. The purified HAO's molecular mass was determined by SDS-PAGE and its activity by measuring the change in the concentration of ferricyanide, the electron acceptor. Results showed that as much as 87.8 mg L -1 ammonium-N was removed without nitrite accumulation within 24 hours in the sodium citrate medium at C/N of 15. The HAO isolated from the strain K5 was approximately 71 KDa. With hydroxylamine (NH 2 OH) as a substrate and potassium ferricyanide as an electron acceptor, the enzyme was capable of oxidizing NH 2 OH to nitrite in vitro when the pH varied from 7 to 9 and temperature ranged from 25 °C to 40 °C. This is the first time that an HAO has been purified from the Bacillus genus, and the findings revealed that it is distinctive in its molecular mass and enzyme properties.

Recovery of lithium from geothermal water by amorphous hydrous aluminium oxide

International Nuclear Information System (INIS)

Wada, Hideo; Kitamura, Takao; Ooi, Kenta; Katoh, Shunsaku

1984-01-01

Effects of chemical composition, temperature, and lithium concentration of geothermal water on lithium recovery by amorphous hydrous aluminium oxide (a-HAO) were investigated in order to evaluate the feasibility of this process. The results are summarized as follows: (1) Among various chemical consituents in geothermal water, silica interfered with the lithium adsorption. The lithium uptake decreased when silica concentration exceeded 73 mg/l under 100 mg/50 ml a-HAO to solution ratio. (2) The lithium uptake decreased with an increase of adsorption temperature and was not observed above 40 deg C. At higher temperature, the crystallization of a-HAO to bayerite occurred prior to lithium adsorption. (3) The lithium uptake increased with an increase of lithium concentration. Lithium uptake comparable with lithium contents in lithium ores was obtained at the lithium concentration of 30 mg/l at 20 deg C. These results show that a-HAO is applicable to collect lithium from geothermal water if silica can be removed before lithium adsorption. (author)

Association between vitamin D receptor gene polymorphism (TaqI)

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics; Volume 94; Issue 3. Association between vitamin D receptor gene polymorphism (TaqI) and obesity in Chinese population. Hui-Ru Fan Li-Qun Lin Hao Ma Ying Li Chang-Hao Sun. Research Note Volume 94 Issue 3 September 2015 pp 473-478 ...

Association between vitamin D receptor gene polymorphism (TaqI ...

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics; Volume 94; Issue 3. Association between vitamin D receptor gene polymorphism (TaqI) and obesity in Chinese population. Hui-Ru Fan Li-Qun Lin Hao Ma Ying Li Chang-Hao Sun. Research Note Volume 94 Issue 3 September 2015 pp 473-478 ...

Análise da Incidência de Mutações no Gene HEXA na População Judaica Brasileira - Avaliação da Importância de um Programa Preventivo da Doença de Tay-Sachs

OpenAIRE

Roberto Rozenberg

2000-01-01

A doença de Tay-Sachs (DTS) é uma doença neurodegenerativa, de herança autossômica recessiva, que se manifesta a partir do sexto mês de vida. Crianças afetadas desenvolvem degeneração física e mental intensa, levando à morte até os 5 anos de idade. Não há atualmente cura ou tratamento disponível. Na população judaica, 1 em cada 31 indivíduos é portador da DTS, e a incidência da doença (aproximadamente 1 em cada 4.000 nascimentos) é cerca de 100 vezes maior nesta do que em outras populações. O...

Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.

Science.gov (United States)

Dersh, Devin; Iwamoto, Yuichiro; Argon, Yair

2016-12-01

Loss of function of the enzyme β-hexosaminidase A (HexA) causes the lysosomal storage disorder Tay-Sachs disease (TSD). It has been proposed that mutations in the α chain of HexA can impair folding, enzyme assembly, and/or trafficking, yet there is surprisingly little known about the mechanisms of these potential routes of pathogenesis. We therefore investigated the biosynthesis and trafficking of TSD-associated HexA α mutants, seeking to identify relevant cellular quality control mechanisms. The α mutants E482K and G269S are defective in enzymatic activity, unprocessed by lysosomal proteases, and exhibit altered folding pathways compared with wild-type α. E482K is more severely misfolded than G269S, as observed by its aggregation and inability to associate with the HexA β chain. Importantly, both mutants are retrotranslocated from the endoplasmic reticulum (ER) to the cytosol and are degraded by the proteasome, indicating that they are cleared via ER-associated degradation (ERAD). Leveraging these discoveries, we observed that manipulating the cellular folding environment or ERAD pathways can alter the kinetics of mutant α degradation. Additionally, growth of patient fibroblasts at a permissive temperature or with chemical chaperones increases cellular Hex activity by improving mutant α folding. Therefore modulation of the ER quality control systems may be a potential therapeutic route for improving some forms of TSD. © 2016 Dersh et al. This article is distributed by The American Society for Cell Biology under license from the author(s). Two months after publication it is available to the public under an Attribution–Noncommercial–Share Alike 3.0 Unported Creative Commons License (http://creativecommons.org/licenses/by-nc-sa/3.0).

Presence of Fe-Al binary oxide adsorbent cake layer in ceramic membrane filtration and their impact for removal of HA and BSA.

Science.gov (United States)

Kim, Kyung-Jo; Jang, Am

2018-04-01

To enhance the removal of natural organic matter (NOM) in ceramic (Ce) membrane filtration, an iron-aluminum binary oxide (FAO) was applied to the ceramic membrane surface as the adsorbent cake layer, and it was compared with heated aluminum oxide (HAO) for the evaluation of the control of NOM. Both the HAO and FAO adsorbent cake layers efficiently removed the NOM regardless of NOM's hydrophobic/hydrophilic characteristics, and the dissolved organic carbon (DOC) removal in NOM for FAO was 1-1.12 times greater than that for HAO, which means FAO was more efficient in the removal of DOC in NOM. FAO (0.03 μm), which is smaller in size than HAO (0.4 μm), had greater flux reduction than HAO. The flux reduction increased as the filtration proceeded because most of the organic foulants (colloid/particles and soluble NOM) were captured by the adsorbent cake layer, which caused fouling between the membrane surface and the adsorbent cake layer. However, no chemically irreversible fouling was observed on the Ce membrane at the end of the FAO adsorbent cake layer filtration. This means that a stable adsorbent cake layer by FAO formed on the Ce membrane, and that the reduced pure water flux of the Ce membrane, resulting from the NOM fouling, can easily be recovered through physicochemical cleaning. Copyright © 2018 Elsevier Ltd. All rights reserved.

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics; Volume 95; Issue 1. Distribution and linkage disequilibrium analysis of polymorphisms of GH1 gene in different populations of pigs associated with body size. Yunyun Cheng Songcai Liu Dan Su Chao Lu Xin Zhang Qingyan Wu Siming Li Haoyu Fu Hao Yu Linlin Hao. Research Article ...

Harm avoidance and depression, anxiety, insomnia, and migraine in fifth-year medical students in Taiwan

OpenAIRE

Chen CY; Yu NW; Huang TH; Wang WS; Fang JT

2018-01-01

Ching-Yen Chen,1–3 Nan-Wen Yu,2–4 Tien-Hao Huang,4 Wei-Shin Wang,4 Ji-Tseng Fang2,3,5 1Department of Psychiatry, Chang Gung Memorial Hospital, Keelung, Taiwan; 2School of Medicine, Chang Gung University, Taoyuan, Taiwan; 3Medical Education Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan; 4Department of Psychiatry, Chang Gung Memorial Hospital, Linkou, Taiwan; 5Department of Nephrology, Chang Gung Memorial Hospital, Linkou, Taiwan Purpose: During medical school tra...

Harm avoidance and depression, anxiety, insomnia, and migraine in fifth-year medical students in Taiwan

OpenAIRE

Chen,Ching-Yen; Yu,Nan-Wen; Huang,Tien-Hao; Wang,Wei-Shin; Fang,Ji-Tseng

2018-01-01

Ching-Yen Chen,1–3 Nan-Wen Yu,2–4 Tien-Hao Huang,4 Wei-Shin Wang,4 Ji-Tseng Fang2,3,5 1Department of Psychiatry, Chang Gung Memorial Hospital, Keelung, Taiwan; 2School of Medicine, Chang Gung University, Taoyuan, Taiwan; 3Medical Education Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan; 4Department of Psychiatry, Chang Gung Memorial Hospital, Linkou, Taiwan; 5Department of Nephrology, Chang Gung Memorial Hospital, Linkou, Taiwan Purpose: During medical sc...

Animal models of GM2 gangliosidosis: utility and limitations

Directory of Open Access Journals (Sweden)

Lawson CA

2016-07-01

Full Text Available Cheryl A Lawson,1,2 Douglas R Martin2,3 1Department of Pathobiology, 2Scott-Ritchey Research Center, 3Department of Anatomy, Physiology and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, USA Abstract: GM2 gangliosidosis, a subset of lysosomal storage disorders, is caused by a deficiency of the glycohydrolase, β-N-acetylhexosaminidase, and includes the closely related Tay–Sachs and Sandhoff diseases. The enzyme deficiency prevents the normal, stepwise degradation of ganglioside, which accumulates unchecked within the cellular lysosome, particularly in neurons. As a result, individuals with GM2 gangliosidosis experience progressive neurological diseases including motor deficits, progressive weakness and hypotonia, decreased responsiveness, vision deterioration, and seizures. Mice and cats are well-established animal models for Sandhoff disease, whereas Jacob sheep are the only known laboratory animal model of Tay–Sachs disease to exhibit clinical symptoms. Since the human diseases are relatively rare, animal models are indispensable tools for further study of pathogenesis and for development of potential treatments. Though no effective treatments for gangliosidoses currently exist, animal models have been used to test promising experimental therapies. Herein, the utility and limitations of gangliosidosis animal models and how they have contributed to the development of potential new treatments are described. Keywords: GM2 gangliosidosis, Tay–Sachs disease, Sandhoff disease, lysosomal storage disorder, sphingolipidosis, brain disease

77 FR 59423 - Self-Regulatory Organizations; NYSE MKT LLC; Order Granting Approval of a Proposed Rule Change...

Science.gov (United States)

2012-09-27

... America Strategic Investments Corporation (``BAML''), Barclays Electronic Commerce Holdings Inc...''), Goldman, Sachs & Co. (``Goldman Sachs''), Datek Online Management Corp. (``TD Ameritrade'') and UBS...

TNF-α activates death pathway in human aorta smooth muscle cell in the presence of 7-ketocholesterol

International Nuclear Information System (INIS)

Lee, Hyun Sun; Chang, Jong Sun; Baek, Jin Ah; Chung, Mi Yeon; Lee, Han Cheol; Rhim, Byung Yong; Sok, Dai Eun; Rho, Mun-Chual; Kim, Young Kook; Kim, Koanhoi

2005-01-01

This study was undertaken to investigate whether a physiologically compatible concentration of 7-ketocholesterol had any effect on human vascular smooth muscle cells (HVSMCs). We found that 7-ketocholesterol changed the viability of human aorta smooth muscle cells (HAoSMC) not by cytotoxicity but by activation of tumor necrosis factor-α receptor (TNFR)-mediated death. Whereas TNF-α did not affect the viability in the presence of 7α-hydroxycholesterol or cholesterol, the cytokine induced HAoSMC death in the presence of 7-ketocholesterol as detected by morphology, viability, and fragmentation of chromosomal DNA. The HAoSMC death was inhibited by a neutralizing anti-TNF receptor 1 (TNFR1) antibody and by the caspase inhibitors of z-VAD and z-DEVD. Activations of caspase-8 and -3 were detected from dying HAoSMCs. 7-Ketocholesterol inhibited translocation of the nuclear factor κB (NF-κB) subunits of p65 and p50 from the cytosol into the nucleus, increase of NF-κB activity, and expression of caspase-8 homolog Fas ligand interleukin-1-converting enzyme inhibitory protein by TNF-α. We also found that X-chromosome-linked inhibitor of apoptosis protein was degraded in dying HAoSMC. The present study proposes that 7-ketocholesterol would contribute to the disappearance of HVSMC in the atherosclerotic lesions by enhancing receptor-mediated death. This is the first report demonstrating induction of TNF-α-mediated death by oxysterol in cells

Gravitational corrections to light propagation in a perturbed FLRW universe and corresponding weak-lensing spectra

Science.gov (United States)

Cuesta-Lazaro, Carolina; Quera-Bofarull, Arnau; Reischke, Robert; Schäfer, Björn Malte

2018-06-01

When the gravitational lensing of the large-scale structure is calculated from a cosmological model a few assumptions enter: (i) one assumes that the photons follow unperturbed background geodesics, which is usually referred to as the Born approximation, (ii) the lenses move slowly, (iii) the source-redshift distribution is evaluated relative to the background quantities, and (iv) the lensing effect is linear in the gravitational potential. Even though these approximations are small individually they could sum up, especially since they include local effects such as the Sachs-Wolfe and peculiar motion, but also non-local ones like the Born approximation and the integrated Sachs-Wolfe effect. In this work, we will address all points mentioned and perturbatively calculate the effect on a tomographic cosmic shear power spectrum of each effect individually as well as all cross-correlations. Our findings show that each effect is at least 4-5 orders of magnitude below the leading order lensing signal. Finally, we sum up all effects to estimate the overall impact on parameter estimation by a future cosmological weak-lensing survey such as Euclid in a wcold dark matter cosmology with parametrization Ωm, σ8, ns, h, w0, and wa, using five tomographic bins. We consistently find a parameter bias of 10-5, which is therefore completely negligible for all practical purposes, confirming that other effects such as intrinsic alignments, magnification bias and uncertainties in the redshift distribution will be the dominant systematic source in future surveys.

Tactical Economics: The U.S. Army’s Tactical Contribution to Economic Development

Science.gov (United States)

2012-06-08

Sachs, and Dr. William Easterly. Sachs is a world-renowned scholar made popular with his involvement on the transition of the former Soviet Union from...health, education, power and communications, and water and sanitation.30 Dr. William Easterly gives a contrasting view to Sachs. Easterly is an...34Muhammad Yunus and Ray Porter, Banker to the Poor [Micro-Lending and the Battle against World Poverty] (Ashland, OR: Blackstone Audiobooks). 35

Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.

Science.gov (United States)

Park, Noh Jin; Morgan, Craig; Sharma, Rajesh; Li, Yuanyin; Lobo, Raynah M; Redman, Joy B; Salazar, Denise; Sun, Weimin; Neidich, Julie A; Strom, Charles M

2010-02-01

The purpose of this study was to determine whether combining different testing modalities namely beta-hexosaminidase A (HEXA) enzyme analysis, HEXA DNA common mutation assay, and HEXA gene sequencing could improve the sensitivity for carrier detection in non-Ashkenazi (AJ) individuals. We performed a HEXA gene sequencing assay, a HEXA DNA common mutation assay, and a HEXA enzyme assay on 34 self-reported Tay-Sachs disease (TSD) carriers, six late-onset patients with TSD, and one pseudodeficiency allele carrier. Sensitivity of TSD carrier detection was 91% for gene sequencing compared with 91% for the enzyme assay and 52% for the DNA mutation assay. Gene sequencing combined with enzyme testing had the highest sensitivity (100%) for carrier detection. Gene sequencing detected four novel mutations, three of which are predicted to be disease causing [118.delT, 965A-->T (D322V), and 775A-->G (T259A)]. Gene sequencing is useful in identifying rare mutations in patients with TSD and their families, in evaluating spouses of known carriers for TSD who have indeterminate enzyme analysis and negative for common mutation analysis, and in resolving ambiguous enzyme testing results.

Magnetic resonance imaging evaluation of capsulolabral tears after traumatic primary anterior shoulder dislocation. A prospective comparison with arthroscopy of 25 cases

DEFF Research Database (Denmark)

Suder, P.A.; Frich, Lars Henrik; Hougaard, K.

1995-01-01

. Subacute MRI evaluation identified 15 labral tears, 12 Hill-Sachs lesions, 1 total rotator cuff lesion, 1 partial joint side rotator cuff lesion, and 1 partial rupture of the biceps tendon. Arthroscopic examination revealed 22 labral tears, 15 Hill-Sachs lesions, 1 total rotator cuff lesion, 1 partial...... joint side rotator cuff tear, 1 partial rupture of the biceps tendon, and 1 osseous Bankart lesion. Anterior capsulolabral tears and Hill-Sachs lesions appeared with a high incidence after acute anterior primary shoulder dislocation. Conventional MRI was only moderately reliable in the preoperative...... evaluation of labral tears and Hill-Sachs lesions, and it failed to give an accurate, differentiated preoperative diagnosis of the capsulolabral lesions....

The Features of Extrahepatic Collateral Arteries Related to Hepatic Artery Occlusion and Benefits in the Transarterial Management of Liver Tumors

International Nuclear Information System (INIS)

Yang, Lin; Zhang, Xiao Ming; Ren, Yong Jun; Miao, Nan Dong; Huang, Xiao Hua; Dong, Guo Li

2013-01-01

Purpose. To investigate the extrahepatic collateral arteries related to hepatic artery occlusion (HAO) and to determine its benefits in the transarterial management of liver tumors. Methods and Findings. Eleven patients (7 hepatocellular carcinomas, 3 liver metastases, and 1 with hemangioma) with HAO confirmed with digital subtraction angiography (DSA) were admitted to our hospital. Of the 11 patients, 7 were men and 4 were women, with an average age of 41.5 ± 15.5 years (range: 29 to 70 years). DSA was performed to evaluate the collateral routes to the liver. In the 11 patients with HAO, DSA showed complete occlusion of the common hepatic artery in 9 patients and the proper hepatic artery (PHA) in 2 patients. Extrahepatic collateral arteries supplying the liver were readily evident. The collateral arteries originated from the superior mesenteric artery (SMA) in 8 patients, from the gastroduodenal artery in 2 patients, and from the left gastric artery (LGA) in 1 patient. Transcatheter treatment was successfully performed via the collateral artery in all patients except the one who had hemangioma. Conclusions. DSA is an effective method for detecting collateral circulation related to HAO and may provide information to guide transcatheter management decisions

The Features of Extrahepatic Collateral Arteries Related to Hepatic Artery Occlusion and Benefits in the Trans arterial Management of Liver Tumors

International Nuclear Information System (INIS)

Yang, L.; Zhang, X.M.; Ren, Y.J.; Miao, N.D.; Huang, X.H.; Dong, G.L.

2013-01-01

To investigate the extrahepatic collateral arteries related to hepatic artery occlusion (HAO) and to determine its benefits in the trans arterial management of liver tumors. Methods and Findings. Eleven patients (7 hepatocellular carcinomas, 3 liver metastases, and 1 with hemangioma) with HAO confirmed with digital subtraction angiography (DSA) were admitted to our hospital. Of the 11 patients, 7 were men and 4 were women, with an average age of 41.5 ± 15.5 years (range: 29 to 70 years). DSA was performed to evaluate the collateral routes to the liver. In the 11 patients with HAO, DSA showed complete occlusion of the common hepatic artery in 9 patients and the proper hepatic artery (PHA) in 2 patients. Extrahepatic collateral arteries supplying the liver were readily evident. The collateral arteries originated from the superior mesenteric artery (SMA) in 8 patients, from the gastroduodenal artery in 2 patients, and from the left gastric artery (LGA) in 1 patient. Transcatheter treatment was successfully performed via the collateral artery in all patients except the one who had hemangioma. Conclusions. DSA is an effective method for detecting collateral circulation related to HAO and may provide information to guide transcatheter management decisions.

The effect of neutral-surface iron oxide nanoparticles on cellular uptake and signaling pathways

Directory of Open Access Journals (Sweden)

Kim E

2016-09-01

Full Text Available Eunjoo Kim,1 Joon Mee Kim,2 Lucia Kim,2 Suk Jin Choi,2 In Suh Park,2 Jee Young Han,2 Young Chae Chu,2 Eun Sook Choi,1 Kun Na,3 Soon-Sun Hong4 1Division of Nano and Energy Convergence Research, Daegu Gyeongbuk Institute of Science and Technology (DGIST, Daegu, 2Department of Pathology, Inha University College of Medicine, Incheon, 3Department of Biotechnology, Catholic University of Korea, Bucheon, 4Department of Biomedical Sciences, Inha University College of Medicine, Incheon, South Korea Abstract: In recent years, iron oxide nanoparticles (IONPs have been applied widely to biomedical fields. However, the relationship between the physicochemical properties of IONPs and their biological behavior is not fully understood yet. We prepared 3-methacryloxypropyl­trimethoxysilane (MPS-coated IONPs, which have a neutral hydrophobic surface, and compared their biological behavior to that of Resovist (ferucarbotran, a commercialized IONP formulation modified with carboxymethyl dextran. The rate of MPS-IONP uptake by human aortic endothelial cells (HAoECs was higher than ferucarbotran uptake, indicating that the neutral hydrophobic nature of MPS-IONPs allowed them to be absorbed more readily through the plasma membrane. However, the signaling pathways activated by MPS-IONPs and ferucarbotran were comparable, suggesting that surface charge is not a key factor for inducing changes in HAoECs. In vivo fate analysis showed that MPS-IONPs accumulated for longer periods in tissues than hydrophilic ferucarbotran. These findings could enlarge our understanding of NP behavior for advanced applications in the biomedical field. Keywords: iron oxide nanoparticles, neutral hydrophobic surface, signaling pathway, uptake, accumulation, reactive oxygen species (ROS

Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study.

Science.gov (United States)

Osher, Etty; Fattal-Valevski, Aviva; Sagie, Liora; Urshanski, Nataly; Sagiv, Nadav; Peleg, Leah; Lerman-Sagie, Tally; Zimran, Ari; Elstein, Deborah; Navon, Ruth; Valevski, Avi; Stern, Naftali

2015-04-17

Late Onset Tay- Sachs disease (LOTS) is a rare neurodegenerative lysosomal storage disease which results from mutations in the gene encoding the α subunit (HEXA) of β-hexosaminidase enzyme (HexA). At the present time, no effective treatment exists for LOTS and other neurodegenerative diseases involving the central nerve system (CNS). Pyrimethamine (PMT) was previously shown to act as a HexA chaperone in human fibroblasts in vitro carrying some (e.g., αG269S), but not all LOTS-related mutations. The present study assessed the effect of cyclic, low dose and long term pyrimethamine treatment on HexA in subjects with LOTS. In an open label trial in 4 LOTS patients, PMT was initiated at an average daily dose of ~2.7 mg and administered cyclically guided by blood lymphocyte HexA activity for a mean duration of 82.8 (±22.5; SD) weeks (~1.5 year). HexA activity rose in all subjects, with a mean peak increase of 2.24 folds (±0.52; SD) over baseline activity (range 1.87-3). The mean treatment time required to attain this peak was of 15.7 (±4.8; SD) weeks. Following increase in activity, HexA gradually declined with the continued use of PMT, which was then stopped, resulting in the return of HexA activity to baseline. A second cycle of PMT treatment was then initiated, resulting again in an increase in HexA activity. Three of the patients experienced a measurable neuropsychiatric deterioration whereas one subject remained entirely stable. Cyclic low dose of PMT can increase HexA activity in LOTS patients. However, the observed increase is repeatedly transient and not associated with discernible beneficial neurological or psychiatric effects.

Cosmological constraints on the amplitude of relic gravitational waves

International Nuclear Information System (INIS)

Novosyadlij, B.; Apunevich, S.

2005-01-01

The evolution of the amplitude of relic gravitational waves (RGW) generated in early Universe has been analyzed. The analytical approximation is presented for angular power spectrum of cosmic microwave background anisotropies caused by gravitational waves through Sachs-Wolfe effect. The estimate of the most probable value for this amplitude was obtained on the basis of observation data on cosmic microwave background anisotropies from COBE, WMAP and BOOMERanG experiments along with large-scale structure observations

A double mutation in exon 6 of the [beta]-hexosaminidase [alpha] subunit in a patient with the B1 variant of Tay-Sachs disease

Energy Technology Data Exchange (ETDEWEB)

Ainsworth, P.J. (Univ. of Western Ontario, Ontario (Canada) Child Health Research Institute, London, Ontario (Canada)); Coulter-Mackie, M.B. (Univ. of Western Ontario, Ontario (Canada) Child Health Research Institute, London, Ontario (Canada) Children' s Psychiatric Research Institute, London, Ontario (Canada))

1992-10-01

The B1 variant form of Tay-Sachs disease is enzymologically unique in that the causative mutation(s) appear to affect the active site in the [alpha] subunit of [beta]-hexosaminidase A without altering its ability to associate with the [beta] subunit. Most previously reported B1 variant mutations were found in exon 5 within codon 178. The coding sequence of the [alpha] subunit gene of a patient with the B1 variant form was examined with a combination of reverse transcription of mRNA to cDNA, PCR, and dideoxy sequencing. A double mutation in exon 6 has been identified: a G[sub 574][yields]C transversion causing a val[sub 192][yields]leu change and a G[sub 598][yields] A transition resulting in a val[sub 200][yields]met alteration. The amplified cDNAs were otherwise normal throughout their sequence. The 574 and 598 alterations have been confirmed by amplification directly from genomic DNA from the patient and her mother. Transient-expression studies of the two exon 6 mutations (singly or together) in COS-1 cells show that the G[sub 574][yields]C change is sufficient to cause the loss of enzyme activity. The biochemical phenotype of the 574 alteration in transfection studies is consistent with that expected for a B1 variant mutation. As such, this mutation differs from previously reported B1 variant mutations, all of which occur in exon 5. 31 refs., 2 figs., 2 tabs.

77 FR 47138 - Self-Regulatory Organizations; NYSE MKT LLC; Notice of Filing of Proposed Rule Change Amending...

Science.gov (United States)

2012-08-07

..., NYSE Euronext, Banc of America Strategic Investments Corporation (``BAML''), Barclays Electronic Commerce Holdings Inc. (``Barclays''), Citadel Securities LLC (``Citadel''), Citigroup Financial Strategies, Inc. (``Citigroup''), Goldman, Sachs & Co. (``Goldman Sachs''), Datek Online Management Corp. (``TD...

Characterization of Anammox Hydrazine Dehydrogenase, a Key N2-producing Enzyme in the Global Nitrogen Cycle.

Science.gov (United States)

Maalcke, Wouter J; Reimann, Joachim; de Vries, Simon; Butt, Julea N; Dietl, Andreas; Kip, Nardy; Mersdorf, Ulrike; Barends, Thomas R M; Jetten, Mike S M; Keltjens, Jan T; Kartal, Boran

2016-08-12

Anaerobic ammonium-oxidizing (anammox) bacteria derive their energy for growth from the oxidation of ammonium with nitrite as the electron acceptor. N2, the end product of this metabolism, is produced from the oxidation of the intermediate, hydrazine (N2H4). Previously, we identified N2-producing hydrazine dehydrogenase (KsHDH) from the anammox organism Kuenenia stuttgartiensis as the gene product of kustc0694 and determined some of its catalytic properties. In the genome of K. stuttgartiensis, kustc0694 is one of 10 paralogs related to octaheme hydroxylamine (NH2OH) oxidoreductase (HAO). Here, we characterized KsHDH as a covalently cross-linked homotrimeric octaheme protein as found for HAO and HAO-related hydroxylamine-oxidizing enzyme kustc1061 from K. stuttgartiensis Interestingly, the HDH trimers formed octamers in solution, each octamer harboring an amazing 192 c-type heme moieties. Whereas HAO and kustc1061 are capable of hydrazine oxidation as well, KsHDH was highly specific for this activity. To understand this specificity, we performed detailed amino acid sequence analyses and investigated the catalytic and spectroscopic (electronic absorbance, EPR) properties of KsHDH in comparison with the well defined HAO and kustc1061. We conclude that HDH specificity is most likely derived from structural changes around the catalytic heme 4 (P460) and of the electron-wiring circuit comprising seven His/His-ligated c-type hemes in each subunit. These nuances make HDH a globally prominent N2-producing enzyme, next to nitrous oxide (N2O) reductase from denitrifying microorganisms. © 2016 by The American Society for Biochemistry and Molecular Biology, Inc.

Inhibition of bacterial ammonia oxidation by organohydrazines in soil microcosms

Directory of Open Access Journals (Sweden)

Yucheng eWu

2012-01-01

Full Text Available Hydroxylamine oxidation by hydroxylamine oxidoreductase (HAO is a key step for energy-yielding in support of the growth of ammonia-oxidizing bacteria (AOB. Organohydrazines have been shown to inactivate HAO from Nitrosomonas europaea, and may serve as selective inhibitors to differentiate bacterial from archaeal ammonia oxidation due to the absence of bacterial HAO gene homologue in known ammonia-oxidizing archaea (AOA. In this study, the effects of three organohydrazines on activity, abundance and composition of AOB and AOA were evaluated in soil microcosms. The results indicate that phenylhydrazine and methylhydrazine at the concentration of 100 mol per gram dry weight soil completely suppressed the activity of soil nitrification. DGGE fingerprinting and sequencing analysis of bacterial ammonia monooxygenase subunit A gene (amoA clearly demonstrated that nitrification activity change is well paralleled with the growth of Nitrosomonas europaea-like AOB in soil microcosms. No significant correlation between AOA community structure and nitrification activity was observed among all treatments during the incubation period, although incomplete inhibition of nitrification activity occurred in 2-hydroxyethylhydrazine-amended soil microcosms. These findings show that the HAO-targeted organohydrazines can effectively inhibit bacterial nitrification in soil, and the mechanism of organohydrazine affecting AOA remains unclear.

Deep Tunnel for Regulating Combined Sewer Overflow Pollution and Flood Disaster: A Case Study in Guangzhou City, China

Directory of Open Access Journals (Sweden)

Haichun Wu

2016-08-01

Full Text Available The DongHaoChong (DHC basin is located in the central city zone of Guangzhou City, China. Owing to the high density of buildings and low quality of the drainage pipe network in the city, diversion of rain and sewage is difficult. Waterlogging occurs frequently and combined sewer overflow (CSO pollution is a serious problem during the rainy season. Therefore, a deep tunnel for the DongHaoChong basin has been planned and its construction is currently underway. An urban rainstorm model for the DongHaoChong basin was developed on the basis of the Storm Water Management Model (SWMM, and both the interception effect of CSO pollution and the degree of mitigation of flood were analyzed. Reasonable scenarios for the deep tunnel in terms of rainstorms with different design recurrence periods were evaluated. From the viewpoints of preventing rainstorm waterlogging disasters and protecting water quality in the region downstream of DongHaoChong River, the river flood control and drainage capacities of the region were improved to a 2-year rainstorm design recurrence period by the construction of the deep tunnel. Furthermore, the main pollutant load of the CSO is expected to be reduced by about 30%–40%.

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease.

Science.gov (United States)

Karumuthil-Melethil, Subha; Nagabhushan Kalburgi, Sahana; Thompson, Patrick; Tropak, Michael; Kaytor, Michael D; Keimel, John G; Mark, Brian L; Mahuran, Don; Walia, Jagdeep S; Gray, Steven J

2016-07-01

GM2 gangliosidosis is a family of three genetic neurodegenerative disorders caused by the accumulation of GM2 ganglioside (GM2) in neuronal tissue. Two of these are due to the deficiency of the heterodimeric (α-β), "A" isoenzyme of lysosomal β-hexosaminidase (HexA). Mutations in the α-subunit (encoded by HEXA) lead to Tay-Sachs disease (TSD), whereas mutations in the β-subunit (encoded by HEXB) lead to Sandhoff disease (SD). The third form results from a deficiency of the GM2 activator protein (GM2AP), a substrate-specific cofactor for HexA. In their infantile, acute forms, these diseases rapidly progress with mental and psychomotor deterioration resulting in death by approximately 4 years of age. After gene transfer that overexpresses one of the deficient subunits, the amount of HexA heterodimer formed would empirically be limited by the availability of the other endogenous Hex subunit. The present study used a new variant of the human HexA α-subunit, μ, incorporating critical sequences from the β-subunit that produce a stable homodimer (HexM) and promote functional interactions with the GM2AP- GM2 complex. We report the design of a compact adeno-associated viral (AAV) genome using a synthetic promoter-intron combination to allow self-complementary (sc) packaging of the HEXM gene. Also, a previously published capsid mutant, AAV9.47, was used to deliver the gene to brain and spinal cord while having restricted biodistribution to the liver. The novel capsid and cassette design combination was characterized in vivo in TSD mice for its ability to efficiently transduce cells in the central nervous system when delivered intravenously in both adult and neonatal mice. This study demonstrates that the modified HexM is capable of degrading long-standing GM2 storage in mice, and it further demonstrates the potential of this novel scAAV vector design to facilitate widespread distribution of the HEXM gene or potentially other similar-sized genes to the nervous system.

Roles of configuration mixing and exchange currents in nuclear magnetic moments and beta decays. Chapter 17

International Nuclear Information System (INIS)

Arima, A.; Hyuga, H.

1979-01-01

The authors review systematically several important mechanisms which affect magnetic moments, magnetic dipole transitions and allowed beta-decays. They are first order configuration mixing, second order configuration mixing, the Sachs moment and other exchange magnetic moments, the contribution of the Sachs moment and other exchange magnetic moments with first order configuration mixing. It is shown that first order configuration mixing and the Sachs moment are important for heavy nuclei, and that all the effects except first order mixing are important for light nuclei. (Auth.)

Development of hybrid solar-assisted cooling/heating system

KAUST Repository

Huang, B.J.; Wu, J.H.; Hsu, H.Y.; Wang, J.H.

2010-01-01

A solar-assisted ejector cooling/heating system (SACH) was developed in this study. The SACH combines a pump-less ejector cooling system (ECS) with an inverter-type heat pump (R22) and is able to provide a stable capacity for space cooling. The ECS is driven by solar heat and is used to cool the condenser of the R22 heat pump to increase its COP and reduce the energy consumption of the compressor by regulating the rotational speed of the compressor through a control system. In a complete SACH system test run at outdoor temperature 35 °C, indoor temperature 25 °C and compressor speed 20-80 Hz, and the ECS operating at generator temperature 90 °C and condensing temperature 37 °C, the corresponding condensing temperature of the heat pump in the SACH is 24.5-42 °C, cooling capacity 1.02-2.44 kW, input power 0.20-0.98 kW, and cooling COPc 5.11-2.50. This indicates that the use of ECS in SACH can effectively reduce the condensing temperature of the heat pump by 12.6-7.3 °C and reduce the power consumption by 81.2-34.5%. The SACH can also supply heat from the heat pump. At ambient temperature from 5 °C to 35 °C, the heating COPh is in the range 2.0-3.3. © 2010 Elsevier Ltd. All rights reserved.

Development of hybrid solar-assisted cooling/heating system

KAUST Repository

Huang, B.J.

2010-08-01

A solar-assisted ejector cooling/heating system (SACH) was developed in this study. The SACH combines a pump-less ejector cooling system (ECS) with an inverter-type heat pump (R22) and is able to provide a stable capacity for space cooling. The ECS is driven by solar heat and is used to cool the condenser of the R22 heat pump to increase its COP and reduce the energy consumption of the compressor by regulating the rotational speed of the compressor through a control system. In a complete SACH system test run at outdoor temperature 35 °C, indoor temperature 25 °C and compressor speed 20-80 Hz, and the ECS operating at generator temperature 90 °C and condensing temperature 37 °C, the corresponding condensing temperature of the heat pump in the SACH is 24.5-42 °C, cooling capacity 1.02-2.44 kW, input power 0.20-0.98 kW, and cooling COPc 5.11-2.50. This indicates that the use of ECS in SACH can effectively reduce the condensing temperature of the heat pump by 12.6-7.3 °C and reduce the power consumption by 81.2-34.5%. The SACH can also supply heat from the heat pump. At ambient temperature from 5 °C to 35 °C, the heating COPh is in the range 2.0-3.3. © 2010 Elsevier Ltd. All rights reserved.

Prenatal Genetic Screening Tests

Science.gov (United States)

... Inherited disorders include sickle cell disease , cystic fibrosis , Tay–Sachs disease , and many others. In most cases, both parents ... pain. It occurs most often in African Americans. Tay–Sachs Disease: An inherited birth defect that causes intellectual disability, ...

The Cyclic Stress-Strain Curve of Polycrystals

DEFF Research Database (Denmark)

Pedersen, Ole Bøcker; Rasmussen, K. V.; Winter, A. T.

1982-01-01

The internal stresses implied by the Sachs model are estimated for individual PSBs at low plastic strain amplitudes and for homogeneously sheared grains at higher plastic strain amplitudes. The analysis shows that the Sachs model can account semi-quantitatively for experimentally measured cyclic...... stress-strain curves for copper. A similar approximative analysis of the Taylor model cannot account for the data. An interesting feature of the Sachs model is that, although it is assumed that the flow condition is entirely controlled by the PSBs. the predicted cyclic stress-strain curve displays...

Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing.

Science.gov (United States)

Schneider, Adele; Nakagawa, Sachiko; Keep, Rosanne; Dorsainville, Darnelle; Charrow, Joel; Aleck, Kirk; Hoffman, Jodi; Minkoff, Sherman; Finegold, David; Sun, Wei; Spencer, Andrew; Lebow, Johannah; Zhan, Jie; Apfelroth, Stephen; Schreiber-Agus, Nicole; Gross, Susan

2009-11-01

Tay-Sachs disease (TSD) carrier screening, initiated in the 1970s, has reduced the birth-rate of Ashkenazi Jews with TSD worldwide by 90%. Recently, several nationwide programs have been established that provide carrier screening for the updated panel of Jewish genetic diseases on college campuses and in Jewish community settings. The goals of this study were to determine the performance characteristics of clinical TSD testing in college- and community-based screening programs and to determine if molecular testing alone is adequate in those settings. Clinical data for TSD testing were retrospectively anonymized and subsequently analyzed for 1,036 individuals who participated in these programs. The performance characteristics of the serum and the platelet Hexosaminidase assays were compared, and also correlated with the results of targeted DNA analysis. The serum assay identified 29 carriers and the platelet assay identified 35 carriers for carrier rates of 1/36 and 1/29, respectively. One hundred sixty-nine samples (16.3%) were inconclusive by serum assay in marked contrast to four inconclusive samples (0.4%) by the platelet assay. Molecular analysis alone would have missed four of the 35 carriers detected by the platelet assay, yielding a false negative rate of 11.4% with a sensitivity of 88.6%. Based on the results of this study, platelet assay was superior to serum with a minimal inconclusive rate. Due to changing demographics of the Ashkenazi Jewish population, molecular testing alone in the setting of broad-based population screening programs is not sufficient, and biochemical analysis should be the assay of choice. Copyright 2009 Wiley-Liss, Inc.

Nitric oxide is an obligate bacterial nitrification intermediate produced by hydroxylamine oxidoreductase.

Science.gov (United States)

Caranto, Jonathan D; Lancaster, Kyle M

2017-08-01

Ammonia (NH 3 )-oxidizing bacteria (AOB) emit substantial amounts of nitric oxide (NO) and nitrous oxide (N 2 O), both of which contribute to the harmful environmental side effects of large-scale agriculture. The currently accepted model for AOB metabolism involves NH 3 oxidation to nitrite (NO 2 - ) via a single obligate intermediate, hydroxylamine (NH 2 OH). Within this model, the multiheme enzyme hydroxylamine oxidoreductase (HAO) catalyzes the four-electron oxidation of NH 2 OH to NO 2 - We provide evidence that HAO oxidizes NH 2 OH by only three electrons to NO under both anaerobic and aerobic conditions. NO 2 - observed in HAO activity assays is a nonenzymatic product resulting from the oxidation of NO by O 2 under aerobic conditions. Our present study implies that aerobic NH 3 oxidation by AOB occurs via two obligate intermediates, NH 2 OH and NO, necessitating a mediator of the third enzymatic step.

Effect of intravenous iron saccharate on the requirements ofErythropoietin in Hemodialysis patients

International Nuclear Information System (INIS)

Shaheen, F.A.M.; Akeel, N.; Souqiyye, M.Z.

2002-01-01

We attempt in this study to evaluate the effect of intravenous ironsaccharate (i.v. Sach) on the erythropoietin (EPO) requirements during theinitial phase of replacement therapy with recombinant human erythropoietin(r-HuEPO) in adult chronic hemodialysis (HD) patients. We evaluated 96 studypatients who completed 12 weeks of treatment with EPO. There were 69 (72%)males and 27 (28%) females with a mean age of 44+-10 years (range 24 to 74years). The patients were initiated on EPO at 50 units/kg body weightsubcutaneously post-dialysis two to three times weekly. Intravenous iron wasadministered to maintain the ferritin levels and transferrin saturation ratiowithin normal range. There were 36 (37.5%) patients who received i.v. Sach atdoses of 100 mg at the end of dialysis two or three times per week during thewhole study period (total dose 2400-3600 mg). Of the 96 study patients, 91(94.8%) responded to the EPO. The mean hemoglobin (Hb) at entry to the studywas 72+-84 g/L (range 52-88 g/L). There was significant increase of the meanHb to 108+-10 g/L (range 70-120 grams/L) at the end of study (P 0.2and ferritin 0.2 and ferritin >100ng/ml. There were 19 patients in group I (13 received i.v. Sach), 26 in groupII (16 received i.v. Sach) and 44 in group III (seven received i.v. Sach).There was a group of seven patients who had TSAT 100ng/ml, however, none received i.v. sach and they were not included in thestratification. There was no significant difference in the mean Hb betweenpatients who received and those who did not receive i.v. Sach in thesub-groups studied. However, there was a significant decrease in the meanweekly dose of EPO in the patients who received i.v. Sach. We conclude thatroutine use of i.v. iron supplementation in chronic HD patients receivingrecombinant EPO may be beneficial in the initial phase of treatment inattaining the target Hb with lower doses of EPO, regardless of the status ofthe iron indices. (author)

Genetics Home Reference: GM2-gangliosidosis, AB variant

Science.gov (United States)

... Resources Genetic Testing (1 link) Genetic Testing Registry: Tay-Sachs disease, variant AB General Information from MedlinePlus (5 links) ... AB variant Activator Deficiency/GM2 Gangliosidosis Activator-deficient Tay-Sachs disease GM2 Activator Deficiency Disease GM2 gangliosidosis, type AB ...

Midazolam induces apoptosis in MA-10 mouse Leydig tumor cells through caspase activation and the involvement of MAPK signaling pathway

Directory of Open Access Journals (Sweden)

So EC

2014-02-01

Full Text Available Edmund Cheung So,1,2 Yu-Xuan Lin,3 Chi Hao Tseng,1 Bo-Syong Pan,3 Ka-Shun Cheng,2 Kar-Lok Wong,2 Lyh-Jyh Hao,4 Yang-Kao Wang,5 Bu-Miin Huang2 1Department of Anesthesia, Tainan Municipal An Nan Hospital, China Medical University, Tainan, Taiwan; 2Department of Anesthesia, China Medical University, Taichung, Taiwan; 3Department of Cell Biology and Anatomy, National Cheng Kung University, Tainan, Taiwan; 4Department of Internal Medicine, Division of Endocrinology and Metabolism, Kaohsiung Veteran General Hospital Tainan Branch Tainan, Taiwan; 5Graduate Institute of Biomedical Materials and Tissue Engineering, Taipei Medical University, Taipei, Taiwan Purpose: The present study aims to investigate how midazolam, a sedative drug for clinical use with cytotoxicity on neuronal and peripheral tissues, induced apoptosis in MA-10 mouse Leydig tumor cells. Methods: The apoptotic effect and underlying mechanism of midazolam to MA-10 cells were investigated by flow cytometry assay and Western blotting methods. Results: Data showed that midazolam induced the accumulation of the MA-10 cell population in the sub-G1 phase and a reduction in the G2/M phase in a time- and dose-dependent manner, suggesting an apoptotic phenomenon. Midazolam could also induce the activation of caspase-8, -9, and -3 and poly (ADP-ribose polymerase proteins. There were no changes in the levels of Bax and cytochrome-c, whereas Bid was significantly decreased after midazolam treatment. Moreover, midazolam decreased both pAkt and Akt expression. In addition, midazolam stimulated the phosphorylation of p38 and c-Jun NH2-terminal kinase but not extracellular signal-regulated kinase. Conclusion: Midazolam could induce MA-10 cell apoptosis through the activation of caspase cascade, the inhibition of pAkt pathway, and the induction of p38 and c-Jun NH2-terminal kinase pathways. Keywords: midazolam, apoptosis, MA-10 cell, caspase, Akt, MAPKs

Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.

Science.gov (United States)

Levit, A; Nutman, D; Osher, E; Kamhi, E; Navon, R

2010-06-01

We have identified three mutations in the beta-hexoseaminidase A (HEXA) gene in a juvenile Tay-Sachs disease (TSD) patient, which exhibited a reduced level of HEXA mRNA. Two mutations are novel, c.814G>A (p.Gly272Arg) and c.1305C>T (p.=), located in exon 8 and in exon 11, respectively. The third mutation, c.1195A>G (p.Asn399Asp) in exon 11, has been previously characterized as a common polymorphism in African-Americans. Hex A activity measured in TSD Glial cells, transfected with HEXA cDNA constructs bearing these mutations, was unaltered from the activity level measured in normal HEXA cDNA. Analysis of RT-PCR products revealed three aberrant transcripts in the patient, one where exon 8 was absent, one where exon 11 was absent and a third lacking both exons 10 and 11. All three novel transcripts contain frameshifts resulting in premature termination codons (PTCs). Transfection of mini-gene constructs carrying the c.814G>A and c.1305C>T mutations proved that the two mutations result in exon skipping. mRNAs that harbor a PTC are detected and degraded by the nonsense-mediated mRNA decay (NMD) pathway to prevent synthesis of abnormal proteins. However, although NMD is functional in the patient's fibroblasts, aberrant transcripts are still present. We suggest that the level of correctly spliced transcripts as well as the efficiency in which NMD degrade the PTC-containing transcripts, apparently plays an important role in the phenotype severity of the unique patient and thus should be considered as a potential target for drug therapy.

Creditor Panic, Asset Bubbles and Sharks: Three Views of the Asian Crisis

OpenAIRE

Marcus Miller; Lei Zhang

1999-01-01

How are we to understand the East Asian crisis? There are two popular explanations: first that it was just like a nineteenth century British bank panic, calling for prompt action by a 'lender of last resort', namely the IMF; second that it was much worse —nothing less than the bursting of a modern-day South Sea Bubble. Jeffrey Sachs of Harvard University is closely associated with the first view. He stresses the liquidity crisis facing the emerging East Asian economies as foreign short-term c...

A secure chaotic maps and smart cards based password authentication and key agreement scheme with user anonymity for telecare medicine information systems.

Science.gov (United States)

Li, Chun-Ta; Lee, Cheng-Chi; Weng, Chi-Yao

2014-09-01

Telecare medicine information system (TMIS) is widely used for providing a convenient and efficient communicating platform between patients at home and physicians at medical centers or home health care (HHC) organizations. To ensure patient privacy, in 2013, Hao et al. proposed a chaotic map based authentication scheme with user anonymity for TMIS. Later, Lee showed that Hao et al.'s scheme is in no provision for providing fairness in session key establishment and gave an efficient user authentication and key agreement scheme using smart cards, in which only few hashing and Chebyshev chaotic map operations are required. In addition, Jiang et al. discussed that Hao et al.'s scheme can not resist stolen smart card attack and they further presented an improved scheme which attempts to repair the security pitfalls found in Hao et al.'s scheme. In this paper, we found that both Lee's and Jiang et al.'s authentication schemes have a serious security problem in that a registered user's secret parameters may be intentionally exposed to many non-registered users and this problem causing the service misuse attack. Therefore, we propose a slight modification on Lee's scheme to prevent the shortcomings. Compared with previous schemes, our improved scheme not only inherits the advantages of Lee's and Jiang et al.'s authentication schemes for TMIS but also remedies the serious security weakness of not being able to withstand service misuse attack.

Asymptotic value of screening parameter as determined from the one-electron fragment of the kinetic energy or electrostatic potential at the nucleus

Energy Technology Data Exchange (ETDEWEB)

Teruya, Hirohide; Anno, Tosinobu

1985-09-01

Numerical value of lim sub(Z ..-->.. infinity) delta(i, j)/delta Zsub(i), where (i, j) stands for average interaction energy of a pair of electrons embedded in hydrogenic orbitals (HAO's) is presented for a wide range of HAO's. Data to be presented should be useful to calculate the asymptotic limit of screening effect seen by an electron embedded in a given kind of orbital for an isoelectronic series of atoms as determined from the ''one-electron component'' of the total kinetic energy of or of the electrostatic potential at the nucleus within an atom.

78 FR 41797 - Granting of Request for Early Termination of the Waiting Period Under the Premerger Notification...

Science.gov (United States)

2013-07-11

....; Virgin Group Holdings Limited; Delta Airlines, Inc. 20130889 G Centre Capital Investors V, L.P.; Overhill....; Vista Equity Partners Fund IV, L.P. 20130906 G The Goldman Sachs Group, Inc.; APT Software Holdings, Inc.; The Goldman Sachs Group, Inc. 20130908 G MABEG/Verein zur Fordurung und Beratung der MAHLE Gruppe e.V...

Evaluation of natural organic matter adsorption on Fe-Al binary oxide: Comparison with single metal oxides.

Science.gov (United States)

Kim, Kyung-Jo; Jang, Am

2017-10-01

The adsorption characteristics of three types of standard natural organic matter (NOM) on iron-aluminum (Fe-Al) binary oxide (FAO) and heated aluminum oxide (HAO) under natural surface water condition were investigated using various adsorption isotherms and kinetic models. FAO was synthesized by Fe oxide and Al oxide, mixed using the sol-gel hydrothermal method, and aluminum sulfate was used to make HAO. The amount of adsorbed NOM was increased to 79.6 mg g -1 for humic acid (HA), 101.1 mg g -1 for sodium alginate (SA) in the FAO, but the maximum adsorption capacity of bovine serum albumin (BSA) (461.3 mg g -1 ) was identified on the HAO. The adsorption of HA, BSA, and SA dramatically increased (>70%) on FAO in 5 min and HA was significantly removed (90%) among the three NOM. Mutual interaction among the adsorbed NOM (BSA) occurred on the HAO surface during adsorption due to formation of monolayer by protein molecules at neutral pH. The pseudo second order clearly represented the adsorption kinetics for both adsorbents. The equilibrium isotherm data of FAO was better exhibited by the Langmuir isotherm model than by the Freundlich isotherm, but HAO was a slightly non-linear Langmuir type. Also, the free energy, enthalpy, and entropy of adsorption were determined from the thermodynamic experiments. Adsorption on FAO was spontaneous and an exothermic process. Fluorescence excitation-emission matrix (FEEM) spectra were used to elucidate the variation in organic components. The results obtained suggests that the significant changes in the surface property of the adsorbent (large surface area, increased crystalline intensity, and fine particle size) were effectively determined by the Fe-synthesized Al oxide mixed using the sol-gel hydrothermal method. The results also suggest that the changes enhanced the adsorption capacity, whereby three NOM were notably removed on FAO regardless of NOM characteristics (hydrophobic and hydrophilic). Copyright © 2017 Elsevier

Intralobar fibres of the occipital lobe: a post mortem dissection study.

Science.gov (United States)

Vergani, Francesco; Mahmood, Sajedha; Morris, Cristopher M; Mitchell, Patrick; Forkel, Stephanie J

2014-07-01

The atlas by Heinrich Sachs (1892) provided an accurate description of the intralobar fibres of the occipital lobe, with a detailed representation of the short associative tracts connecting different parts of the lobe. Little attention has been paid to the work of Sachs since its publication. In this study, we present the results of the dissection of three hemispheres, performed according to the Klingler technique (1935). Our anatomical findings are then compared to the original description of the occipital fibres anatomy as detailed by Sachs. Three hemispheres were dissected according to Klingler's technique (1935). Specimens were fixed in 10% formalin and frozen at -15 °C for two weeks. After defreezing, dissection of the white matter fibres was performed with blunt dissectors. Coronal sections were obtained according to the cuts originally described by Sachs. In addition, medial to lateral and lateral to medial dissection of the white matter of the occipital lobe was also performed. A network of short association fibres was demonstrated in the occipital lobe, comprising intralobar association fibres and U-shaped fibres, which are connecting neighbouring gyri. Lateral to the ventricles, longitudinal fibres of the stratum sagittale were also identified that are arranged as external and internal layers. Fibres of the forceps major were also found to be in direct contact with the ventricular walls. We were able to replicate all tracts originally described by Sachs. In addition, a previously unrecognised tract, connecting the cuneus to the lingual gyrus, was identified. This tract corresponds to the "sledge runner", described in tractography studies. The occipital lobe shows a rich network of intralobar fibres, arranged around the ventricular wall. Good concordance was observed between the Klingler dissection technique and the histological preparations of Sachs. Copyright © 2014 Elsevier Ltd. All rights reserved.

Diferentes formas de aplicação da semente de Moringa oleifera no tratamento de água

Directory of Open Access Journals (Sweden)

Camila C. Arantes

2015-03-01

Full Text Available Coagulantes naturais e sistemas de filtração são tecnologias de tratamento de água, indicadas para comunidades rurais ou isoladas. Este estudo objetivou comparar duas formas de aplicação de coagulante extraído de sementes de Moringa oleifera. Utilizaram-se o coagulante líquido (10 mL L-1 a 20 g L-1 e sachê contendo 0,8 g de pó de sementes de Moringa oleifera. Após as etapas de dispersão da proteína presente nas sementes de Moringa oleifera, coagulação e floculação efetuaram-se pré-filtração ascendente e filtração lenta. Diferenças significativas foram observadas entre o uso do coagulante líquido e sachê na redução de turbidez e cor aparente. Com o uso dos sachês o pré-filtro foi menos eficiente notando-se reduções médias de turbidez igual 73 e 83% para os sachês e coagulante líquido, respectivamente. No filtro lento verificou-se redução média de 84 e 60% com o uso de sachês e coagulante líquido, respectivamente. Considerando todo o sistema de filtração, o uso dos sachês resultou em elevados percentuais de redução de turbidez e cor aparente; além de que seu preparo não requer o uso de água, condição que favorece sua aplicação em regiões em que há escassez de água com qualidade.

Comparison of the Effects of Phenylhydrazine Hydrochloride and Dicyandiamide on Ammonia-Oxidizing Bacteria and Archaea in Andosols

Directory of Open Access Journals (Sweden)

Wenjie Yang

2017-11-01

Full Text Available Dicyandiamide, a routinely used commercial nitrification inhibitor (NI, inhibits ammonia oxidation catalyzed by ammonia monooxygenase (AMO. Phenylhydrazine hydrochloride has shown considerable potential for the development of next-generation NIs targeting hydroxylamine dehydrogenase (HAO. The effects of the AMO inhibitor and the HAO inhibitor on ammonia-oxidizing bacteria (AOB and ammonia-oxidizing archaea (AOA present in agricultural soils have not been compared thus far. In the present study, the effects of the two inhibitors on soil nitrification and the abundance of AOA and AOB as well as their community structure were investigated in a soil microcosm using quantitative polymerase chain reaction and pyrosequencing. The net nitrification rates and the growth of AOA and AOB in this soil microcosm were inhibited by both NIs. Both NIs had limited effect on the community structure of AOB and no effect on that of AOA in this soil microcosm. The effects of phenylhydrazine hydrochloride were similar to those of dicyandiamide. These results indicated that organohydrazine-based NIs have potential for the development of next-generation NIs targeting HAO in the future.

Why does gravitational radiation produce vorticity?

International Nuclear Information System (INIS)

Herrera, L; Barreto, W; Carot, J; Prisco, A Di

2007-01-01

We calculate the vorticity of worldlines of observers at rest in a Bondi-Sachs frame, produced by gravitational radiation, in a general Sachs metric. We claim that such an effect is related to the super-Poynting vector, in a similar way as the existence of the electromagnetic Poynting vector is related to the vorticity in stationary electrovacuum spacetimes

Joogikultuurist ja rahvaste sõprusõst / Hao Paali

Index Scriptorium Estoniae

Hagu, Paul, 1946-

2008-01-01

Hantõ-Mansiiskis toimunud soome-ugri maailmakongressist. President Toomas Hendrik Ilvese saalist lahkumisest Venemaa riigiduuma väliskomisjoni esimehe Konstantin Kossatshovi sõnavõtu ajal. Vabariigi President töövisiidil Venemaal 27.-30.06.2008

Co-editors’ Note to Readers

Directory of Open Access Journals (Sweden)

Wen-hsin Yeh

2015-06-01

Full Text Available Dear Cross-Currents readers, We are pleased to present you with the fifteenth quarterly issue of the Cross-Currents e-journal. The research articles in the June 2015 issue—guest edited by Elena Barabantseva (University of Manchester, Xiang Biao (University of Oxford, and Antonia Chao (Tunghai University—explore the theme “Governing Marriage Migrations: Perspectives from Mainland China and Taiwan.” The issue includes five articles by scholars from Japan, Germany, the UK, Taiwan, and Hong Kong who are engaged in critical analysis of cross-border migration for the purpose of marriage in the People’s Republic of China and Taiwan as a subject of governance. As the guest editors emphasize in their introduction, cross-border marriage is “perceived to be inseparable from a wide range of other issues, such as sexual morality, family norms, national identity, and border security.” The contributors—Hongfang Hao (Kyoto University, Caroline Grillot (Max Planck Institute for Social Anthropology, Elena Barabantseva (University of Manchester, Mei-Hua Chen (National Sun Yat-sen University, and Hsun-Hui Tseng (Chinese University of Hong Kong—offer valuable new insights on international marriage migration in their multidisciplinary and fieldwork-based studies...

Tay-Sachs Disease

Science.gov (United States)

... During the next months — or even years — the baby will progressively lose the ability to see, hear, and move. A red spot will develop in the back of the child's eyes. The child will stop smiling, crawling, turning over, and reaching out for things. By ...

Tay-Sachs Disease

Science.gov (United States)

... better understanding of how neurological deficits arise in lipid storage diseases and on the development of new treatments targeting disease mechanisms. Specific research on the gangliodisoses including expanding the use of ...

Neuraminidase-1 contributes significantly to the degradation of neuronal B-series gangliosides but not to the bypass of the catabolic block in Tay–Sachs mouse models

Directory of Open Access Journals (Sweden)

Z.K. Timur

2015-09-01

Full Text Available Tay–Sachs disease is a severe lysosomal storage disorder caused by mutations in the HEXA gene coding for α subunit of lysosomal β-Hexosaminidase A enzyme, which converts GM2 to GM3 ganglioside. HexA−/− mice, depleted of the β-Hexosaminidase A iso-enzyme, remain asymptomatic up to 1 year of age because of a metabolic bypass by neuraminidase(s. These enzymes remove a sialic acid residue converting GM2 to GA2, which is further degraded by the still intact β-Hexosaminidase B iso-enzyme into lactosylceramide. A previously identified ganglioside metabolizing neuraminidase, Neu4, is abundantly expressed in the mouse brain and has activity against gangliosides like GM2 in vitro. Neu4−/− mice showed increased GD1a and decreased GM1 ganglioside in the brain suggesting the importance of the Neu4 in ganglioside catabolism. Mice with targeted disruption of both HexA and Neu4 genes showed accumulating GM2 ganglioside and epileptic seizures with 40% penetrance, indicating that the neuraminidase Neu4 is a modulatory gene, but may not be the only neuraminidase contributing to the metabolic bypass in HexA−/− mice. Therefore, we elucidated the biological role of neuraminidase-1 in ganglioside degradation in mouse. Analysis of HexA−/−Neu1−/− and HexA−/−Neu4−/−Neu1−/− mice models showed significant contribution of neuraminidase-1 on B-series ganglioside degradation in the brain. Therefore, we speculate that other neuraminidase/neuraminidases such as Neu2 and/or Neu3 might be also involved in the ganglioside degradation pathway in HexA−/− mice.

A G {r_arrow} A transition at position IVS-11 +1 of the HEX A {alpha}-chain gene in a non-Ashkenazic Mexican Tay-Sachs infant

Energy Technology Data Exchange (ETDEWEB)

Miranda, S.R.P.; Gwon, S.; DeGasperi, R. [New York Univ. Medical Center, NY (United States)] [and others

1994-09-01

Tay-Sachs disease (TSD) is an autosomal recessive storage disorder caused by a deficiency of the lysosomal enzyme, {beta}-N-acetylhexosaminidase A (Hex A), a heteropolymer composed of two polypeptides, {alpha} and {beta}. Mutations in the {alpha}-chain gene render the enzyme defective, resulting in the accumulation of g{sub m2} ganglioside in the nervous system. Deficiency of Hex A was detected in a non-Ashkenazic girl of Mexican origin indicating infantile onset of TSD. Molecular investigation of the {alpha}-chain gene excluded the typical Ashkenazic 4 bp insertion in the exon 11 and the intron 12 splice-junction mutations by Hae III and Dde I restriction analysis, respectively. Single strand conformation polymorphism (SSCP) analysis showed a different pattern in the sample where exon 11 and flanking regions were amplified in the patient DNA as compared to the migration of control DNA. Sequencing of PCR amplified genomic DNA containing exon 11 and flanking intronic regions showed a single base substitution (G {r_arrow} A) at position IVS-11 +1. This mutation creates a recognition site for the restriction enzyme Mbo II. Digestion of exon 11 and flanking regions with Mbo II demonstrated homozygosity of the patient for this mutation and heterozygosity in the mother. mRNA from cultured fibroblasts obtained from a normal control and from the propositus was reverse transcribed. The cDNAs coding for Hex A {alpha}-chain were amplified in four overlapping fragments. In the patient sample it was not possible to amplify the fragment containing the exon 11/intron 11 junction, indicating that this mutation alters normal RNA processing of the Hex A pre-mRNA resulting in the deficiency of Hex A activity.

Asymptotic value of screening parameter as determined from the one-electron fragment of the kinetic energy or electrostatic potential at the nucleus

International Nuclear Information System (INIS)

Teruya, Hirohide; Anno, Tosinobu

1985-01-01

Numerical value of lim sub(Z → infinity) delta(i, j)/delta Zsub(i), where (i, j) stands for average interaction energy of a pair of electrons embedded in hydrogenic orbitals (HAO's) is presented for a wide range of HAO's. Data to be presented should be useful to calculate the asymptotic limit of screening effect seen by an electron embedded in a given kind of orbital for an isoelectronic series of atoms as determined from the ''one-electron component'' of the total kinetic energy of or of the electrostatic potential at the nucleus within an atom. (author)

公示语英译现状分析及应对策略探讨--以南通濠河风景区为例%Analysis and Discussion on the Current Situation of Eng-lish Translation for Public Signs and the Coping Strategy:Taking the Scenic Area of Moat Hao in Nantong as an Example

Institute of Scientific and Technical Information of China (English)

2013-01-01

　　公示语的英译就如同一张名片，向外国友人介绍我们的城市。景区公示语的英译水平更代表着一个旅游景区的形象。本文结合实例，从南通濠河风景区公示语英译的现状出发，指出存在的问题，分析造成错误的原因，同时探讨提高公示语英译水平的相关策略。%English translation of public signs sends information of a city to foreigners just like a business card. The level of transla-tion of the public signs in a scenic spot will affect its image as well. The scenic area of Moat Hao in Nantong is taken as an ex-ample. According to the current situation and analysis of given examples, existing problems are pointed out together with the causes of them. And coping strategies for improving the level of translation are explored.

Problem of construction of the operator of the electromagnetic current of a nucleus

International Nuclear Information System (INIS)

Korchin, A.Y.; Shebeko, A.V.

1984-01-01

The idea of R. G. Sachs [Phys. Rev. 74, 433 (1948)] in the phenomenological theory of exchange currents in nuclei is developed to obtain an expression for the Hamiltonian of a nucleus. An expression is obtained for the current which has the same isospin structure as the pion and seagull currents in the theory of meson exchange currents. Sachs' result follows for the case of point nucleons

Wall Street som kreationistisk forkynder

DEFF Research Database (Denmark)

Ekman, Susanne

2016-01-01

Artiklen gennemgår Karen Hos etnografi om Wall Street: "Liquidated: An ethnography of Wall Street" set i lyset af den offentlige debat vedrørende Goldman Sachs opkøb af Dong......Artiklen gennemgår Karen Hos etnografi om Wall Street: "Liquidated: An ethnography of Wall Street" set i lyset af den offentlige debat vedrørende Goldman Sachs opkøb af Dong...

Accelerating Photons with Gravitational Radiation

CERN Document Server

Shore, Graham M

2001-01-01

The nature of superluminal photon propagation in the gravitational field describing radiation from a time-dependent, isolated source (the Bondi-Sachs metric) is considered in an effective theory which includes interactions which violate the strong equivalence principle. Such interactions are, for example, generated by vacuum polarisation in conventional QED in curved spacetime. The relation of the resulting light-cone modifications to the Peeling Theorem for the Bondi-Sachs spacetime is explained.

Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.

Science.gov (United States)

Frisch, Amos; Colombo, Roberto; Michaelovsky, Elena; Karpati, Mazal; Goldman, Boleslaw; Peleg, Leah

2004-03-01

The 1278insTATC is the most prevalent beta-hexosaminidase A ( HEXA) gene mutation causing Tay-Sachs disease (TSD), one of the four lysosomal storage diseases (LSDs) occurring at elevated frequencies among Ashkenazi Jews (AJs). To investigate the genetic history of this mutation in the AJ population, a conserved haplotype (D15S981:175-D15S131:240-D15S1050:284-D15S197:144-D15S188:418) was identified in 1278insTATC chromosomes from 55 unrelated AJ individuals (15 homozygotes and 40 heterozygotes for the TSD mutation), suggesting the occurrence of a common founder. When two methods were used for analysis of linkage disequilibrium (LD) between flanking polymorphic markers and the disease locus and for the study of the decay of LD over time, the estimated age of the insertion was found to be 40+/-12 generations (95% confidence interval: 30-50 generations), so that the most recent common ancestor of the mutation-bearing chromosomes would date to the 8th-9th century. This corresponds with the demographic expansion of AJs in central Europe, following the founding of the Ashkenaz settlement in the early Middle Ages. The results are consistent with the geographic distribution of the main TSD mutation, 1278insTATC being more common in central Europe, and with the coalescent times of mutations causing two other LSDs, Gaucher disease and mucolipidosis type IV. Evidence for the absence of a determinant positive selection (heterozygote advantage) over the mutation is provided by a comparison between the estimated age of 1278insTATC and the probability of the current AJ frequency of the mutant allele as a function of its age, calculated by use of a branching-process model. Therefore, the founder effect in a rapidly expanding population arising from a bottleneck provides a robust parsimonious hypothesis explaining the spread of 1278insTATC-linked TSD in AJ individuals.

Auditory Pattern Memory

Science.gov (United States)

1990-10-31

Creelman , 1962; Getty, 1975; Divenyi and Danner, kin et aL (1982) jitter-detection paradigm. An advantage of 1977; Divenyi and Sachs, 1978; and Allen...discrimination of tonal se- Creelman . C. D. (1962). "’Human discrimination ofauditory duration." 3. quences.’" J. Acoust. Soc. Am. 82.1218-1226. Acoust...single marked intervals (Abel, 1972a,b; Creelman , 1962; Getty, 1975; Divenyi and Danner, 1977; Divenyi and Sachs, 1978; Espinoza-Varas and Jamieson

University Internationalization and University Autonomy

DEFF Research Database (Denmark)

Turcan, Romeo V.; Gulieva, Valeria

2016-01-01

Turcan and Gulieva deepen our theoretical understanding of the process of university internationalisation by exploring the relationship between university internationalisation and university autonomy. They conjecture that the process of university internationalisation and its sustainability are d......, dissimilar, and sometimes conflicting dimensions of the financial, legal, organisational, staffing, and academic autonomy of the host country, are compromising key aspects of their own autonomy and core mission?......Turcan and Gulieva deepen our theoretical understanding of the process of university internationalisation by exploring the relationship between university internationalisation and university autonomy. They conjecture that the process of university internationalisation and its sustainability...... are determined by the structure and exercise of university autonomy settings at home and in the host countries, and that the process itself cannot be successfully achieved and maintained without changes in the autonomy settings. The key question the authors ask is to what degree universities, in embracing new...

Precision comparison of the erosion rates derived from 137Cs measurements models with predictions based on empirical relationship

International Nuclear Information System (INIS)

Yang Mingyi; Liu Puling; Li Liqing

2004-01-01

The soil samples were collected in 6 cultivated runoff plots with grid sampling method, and the soil erosion rates derived from 137 Cs measurements were calculated. The models precision of Zhang Xinbao, Zhou Weizhi, Yang Hao and Walling were compared with predictions based on empirical relationship, data showed that the precision of 4 models is high within 50m slope length except for the slope with low slope angle and short length. Relatively, the precision of Walling's model is better than that of Zhang Xinbao, Zhou Weizhi and Yang Hao. In addition, the relationship between parameter Γ in Walling's improved model and slope angle was analyzed, the ralation is: Y=0.0109 X 1.0072 . (authors)

Artemisinins from folklore to modern medicine--transforming an herbal extract to life-saving drugs.

Science.gov (United States)

Weina, P J

2008-06-01

The history of the artemisinins from Ge Hong in China during the 4th century, to the re-discovery of the qing hao derivatives in the 1970s, to the explosion of artemisinin derivatives and combinations throughout the world today is a fascinating story. The central and underappreciated role of the United States Army's 'drug company' known as the Division of Experimental Therapeutics at the Walter Reed Army Institute of Research is a story worth relating. From being the first group outside China to extract the active component of qing hao, to leading the work on neurotoxicity of the class in animals, to bringing a Good Manufacturing Practices intravenous formulation to the worldwide market is traced.

Cosmological signatures of anisotropic spatial curvature

International Nuclear Information System (INIS)

Pereira, Thiago S.; Marugán, Guillermo A. Mena; Carneiro, Saulo

2015-01-01

If one is willing to give up the cherished hypothesis of spatial isotropy, many interesting cosmological models can be developed beyond the simple anisotropically expanding scenarios. One interesting possibility is presented by shear-free models in which the anisotropy emerges at the level of the curvature of the homogeneous spatial sections, whereas the expansion is dictated by a single scale factor. We show that such models represent viable alternatives to describe the large-scale structure of the inflationary universe, leading to a kinematically equivalent Sachs-Wolfe effect. Through the definition of a complete set of spatial eigenfunctions we compute the two-point correlation function of scalar perturbations in these models. In addition, we show how such scenarios would modify the spectrum of the CMB assuming that the observations take place in a small patch of a universe with anisotropic curvature

Cosmological signatures of anisotropic spatial curvature

Energy Technology Data Exchange (ETDEWEB)

Pereira, Thiago S. [Departamento de Física, Universidade Estadual de Londrina, 86057-970, Londrina – PR (Brazil); Marugán, Guillermo A. Mena [Instituto de Estructura de la Materia, IEM-CSIC, Serrano 121, 28006, Madrid (Spain); Carneiro, Saulo, E-mail: tspereira@uel.br, E-mail: mena@iem.cfmac.csic.es, E-mail: saulo.carneiro@pq.cnpq.br [Instituto de Física, Universidade Federal da Bahia, 40210-340, Salvador – BA (Brazil)

2015-07-01

If one is willing to give up the cherished hypothesis of spatial isotropy, many interesting cosmological models can be developed beyond the simple anisotropically expanding scenarios. One interesting possibility is presented by shear-free models in which the anisotropy emerges at the level of the curvature of the homogeneous spatial sections, whereas the expansion is dictated by a single scale factor. We show that such models represent viable alternatives to describe the large-scale structure of the inflationary universe, leading to a kinematically equivalent Sachs-Wolfe effect. Through the definition of a complete set of spatial eigenfunctions we compute the two-point correlation function of scalar perturbations in these models. In addition, we show how such scenarios would modify the spectrum of the CMB assuming that the observations take place in a small patch of a universe with anisotropic curvature.

Obituary: John W. Firor (1927-2007)

Science.gov (United States)

Gilman, Peter A.

2009-12-01

John W. Firor, a former Director of the High Altitude Observatory and the National Center for Atmospheric Research, and a founder of the Solar Physics Division of the American Astronomical Society, died of Alzheimer's disease in Pullman, Washington on November 5, 2007, he was 80. He was born in Athens Georgia on October 18, 1927, where his father was a professor of agricultural economics. John had an unusually diverse scientific career. His interest in physics and astrophysics began while serving in the army, during which time he was assigned to the Los Alamos National Laboratory, where he guarded highly radioactive materials (many have heard him describe how informal the protections were compared to later times). After his service he returned to college and graduated in physics from Georgia Tech in 1949. He received his Ph.D. from the University of Chicago in 1954, writing his thesis on cosmic rays under John Simpson. John Firor would later remark that: "If you needed cosmic rays to actually do anything, you are sunk." That thought, partly in jest, may help explain his motivation for moving to so many new scientific and management pursuits. John moved from cosmic ray physics to radio astronomy (particularly of the Sun) when he began work at the Carnegie Institution of Washington's Department of Terrestrial Magnetism, where he remained until 1961. During this time, he met Walter Orr Roberts, then the Director of the High Altitude Observatory (HAO) in Boulder, Colorado. HAO was then affiliated with the University of Colorado. In 1959, a movement began to upgrade the atmospheric sciences in the United States by establishing a National Center, where the largest, most important atmospheric research problems could be addressed. Roberts became the first Director of NCAR, as well as the first president of the University Corporation for Atmospheric Research (UCAR), the consortium of universities that was commissioned to manage and staff the new Center. HAO became a

Hiina naiskunstnike näitus / Maria-Kristiina Soomre

Index Scriptorium Estoniae

Soomre, Maria-Kristiina, 1978-

2001-01-01

Hongkongis avatud näitus "Hiina kunstilaval" keskendub hiina naiskunstnike Yu Cheni, Wang Jingi, Yuen Nimchi ja Hao Li loomingule ning on esimene samm võitluses hiina naiskunstnike soolise diskrimineerimise vastu.

System integration of CDC attenuation in the new Opel Astra; Systemintegration der CDC-Daempfung beim neuen Opel Astra

Energy Technology Data Exchange (ETDEWEB)

Balandat, W.; Kutsche, T. [ZF Sachs AG, Schweinfurt (Germany)

2004-08-01

The optional carriage system IDS Plus of the new Opel Astra was developed in close cooperation between opel, ZF Sachs and other suppliers. This networking approach resulted in a high degree of system integration with the electronic attenuation control system CDC as key element. (orig.) [German] Das optionale Fahrwerksystem IDS Plus im neuen Opel Astra entstand in enger Kooperation zwischen Opel, ZF Sachs und weiteren Zulieferern. Die Arbeit im Netzwerk fuehrte zu einer hohen Systemintegration, in deren Kern die elektronische Daempferregelung CDC steht. (orig.)

Book Review: The End of Poverty: Economic Possibilities for Our Time

OpenAIRE

Rector, Shiela G

2010-01-01

The End of Poverty: Economic Possibilities for Our Time by Jeffrey D. Sachs details the work of Sachs, a global economist in helping impoverished countries to improve their economy. His passion and sense of possibility for ending poverty is backed by real-life experience in a number of third world countries. He makes a call for the American government and citizens to take the challenge to end extreme world poverty by the year 2025. He also points out the vital role education plays in helping ...

In vitro regeneration of a common medicinal plant, Ocimum sanctum ...

African Journals Online (AJOL)

aristo_team

brings down circulatory strain, mitigates cardiovascular depressant, is antiulcer, fights .... DISCUSSION. Proficient regeneration systems are vital for hereditary. 0. 10. 20 .... Hao D, Xiao P (2015). Genomics and Evolution in Traditional Medicinal.

Experiment list: DRX014630 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available tissue_type=the endothelium of blood vessels || ihec ref=JTK008 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/obo

Experiment list: DRX014628 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available | tissue_type=the endothelium of blood vessels || ihec ref=JTK008 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/o

Experiment list: DRX014631 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available tissue_type=the endothelium of blood vessels || ihec ref=JTK008 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/ob

Experiment list: DRX014559 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available tissue_type=the endothelium of blood vessels || ihec ref=JTK001 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/obo

Experiment list: DRX014629 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available tissue_type=the endothelium of blood vessels || ihec ref=JTK008 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/ob

Experiment list: DRX014562 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available issue_type=the endothelium of blood vessels || ihec ref=JTK001 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/obo/

Experiment list: DRX014626 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available tissue_type=the endothelium of blood vessels || ihec ref=JTK008 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/obo

Experiment list: DRX014561 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available tissue_type=the endothelium of blood vessels || ihec ref=JTK001 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/obo

Experiment list: DRX014627 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available | tissue_type=the endothelium of blood vessels || ihec ref=JTK008 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/o

Experiment list: DRX014634 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available tissue_type=the endothelium of blood vessels || ihec ref=JTK008 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/obo

Experiment list: DRX014557 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available issue_type=the endothelium of blood vessels || ihec ref=JTK001 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/obo/

Experiment list: DRX014558 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available tissue_type=the endothelium of blood vessels || ihec ref=JTK001 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/obo

Experiment list: DRX014560 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available tissue_type=the endothelium of blood vessels || ihec ref=JTK001 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/obo

COR1 Engineering Test Unit Measurements at the Mauna Loa Solar Observatory, September 2003

Science.gov (United States)

Thompson, William; Reginald, Nelson; Streander, Kim

2003-01-01

The COR1 Engineering Test Unit (ETU), which had been previously tested at the NCAR/HAO and NRL test facilities, was modified into an instrument capable of observing the Sun. It was then taken to the Mauna Loa Solar Observatory to observe the corona. The changes made to observe the Sun were as follows: 1. The plate scale was changed to accommodate the smaller Apogee camera. This change had already been made for the NRL tests. 2. The previous Oriel polarizer was replaced with a commercial Polarcor polarizer from Newport to be more flight-like. However, because of cost and availability considerations, this polarizer was smaller than those which will be used for flight. 3. A structure was placed around the back section of the instrument, to protect it from stray light. 4. A pointing spar borrowed from HAO was used to track the Sun. A few days into the test, it became evident that some artifacts were appearing in the data, and these artifacts were changing as the polarizer was rotated. It was decided to test two other polarizers, the Oriel polarizer which had been used in the previous tests at HAO and NRL, and a Nikon polarizer which was borrowed from a camera belonging to one of the observatory staff members. These three polarizers had much different qualities are shown.

Using Light Microscopy and Liquid Chromatography Tandem Mass Spectrometry for Qualitative and Quantitative Control of a Combined Three-Herb Formulation in Different Preparations

Directory of Open Access Journals (Sweden)

Tun-Pin Hsueh

2016-12-01

Full Text Available Artemisia capillaries Thunb, Gardenia jasminoides Ellis, and Rheum officinale Baill have been combined to treat jaundice for thousands of years. Studies have revealed that these herbs induce anti-hepatic fibrosis and anti-hepatic apoptosis and alleviate hepatic oxidative stress. This study aims to determine the quality and quantity of an herbal formulation (Chinese name: Yin-Chen-Hao-Tang using physical and chemical examinations. Physical examination of Yin-Chen-Hao-Tang in pharmaceutical herbal products, raw fiber powders, and decoction preparations was performed using Congo red and iodine-potassium staining. A sensitive and validated method employing ultra-high-performance liquid chromatography tandem mass spectrometry (UHPLC-MS/MS was developed to simultaneously quantify the bioactive compounds scoparone, geniposide, and rhein in the Yin-Chen-Hao-Tang formulation in different preparations. Physical examination indicated that cellulose fibers with irregular round shapes were present in the pharmaceutical herbal products. The developed UHPLC-MS/MS method showed good linearity and was well validated. The quantification results revealed that the decoction preparations had the highest amounts of geniposide and rhein. Scoparone appeared in pharmaceutical herbal products from two manufacturers. This experiment provides a qualitative and quantitative method using physical and chemical examinations to test different preparations of herbal products. The results provide a reference for clinical herbal product preparations and further pharmacokinetic research.

Experiment list: DRX014684 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available ssue_type=the endothelium of blood vessels || ihec ref=JTK013 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/obo/C

Experiment list: DRX014738 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available ssue_type=the endothelium of blood vessels || ihec ref=JTK019 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/obo/C

Experiment list: DRX014565 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available ssue_type=the endothelium of blood vessels || ihec ref=JTK001 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://purl.obolibrary.org/obo/C

Snegurotshkad, plast ja punalipud ERKI moeshõul / Triin Thalheim

Index Scriptorium Estoniae

Thalheim, Triin, 1982-

2005-01-01

Sõna ja pildiga tutvustatakse Vene Kultuurikeskuses ERKI moeshõul esitatud Vassilissa, Kirill Safonovi, Kati Ilvese, Anna Roometi, Marte Kisandi, Pille Jürisoo, Karen Milistveri, Piret Paali, Erikka Bahnseni, Mikko Seppä, Hao Zhangi kollektsioone

Cosmic acceleration as an optical illusion

Science.gov (United States)

Skarke, Harald

2017-03-01

We consider light propagation in an inhomogeneous irrotational dust universe with vanishing cosmological constant, with initial conditions as in standard linear perturbation theory. A non-perturbative approach to the dynamics of such a universe is combined with a distance formula based on the Sachs optical equations. Then a numerical study implies a redshift-distance relation that roughly agrees with observations. Interpreted in the standard homogeneous setup, our results would appear to imply the currently accepted values for the Hubble rate and the deceleration parameter; furthermore there is consistency with density perturbations at last scattering. The determination of these three quantities relies only on a single parameter related to a cutoff scale. Discrepancies with the existing literature are related to subtleties of higher order perturbation theory which make both the reliability of the present approach and the magnitude of perturbative effects beyond second order hard to assess.

Cosmic acceleration as an optical illusion

International Nuclear Information System (INIS)

Skarke, Harald

2017-01-01

We consider light propagation in an inhomogeneous irrotational dust universe with vanishing cosmological constant, with initial conditions as in standard linear perturbation theory. A non-perturbative approach to the dynamics of such a universe is combined with a distance formula based on the Sachs optical equations. Then a numerical study implies a redshift-distance relation that roughly agrees with observations. Interpreted in the standard homogeneous setup, our results would appear to imply the currently accepted values for the Hubble rate and the deceleration parameter; furthermore there is consistency with density perturbations at last scattering. The determination of these three quantities relies only on a single parameter related to a cutoff scale. Discrepancies with the existing literature are related to subtleties of higher order perturbation theory which make both the reliability of the present approach and the magnitude of perturbative effects beyond second order hard to assess. (orig.)

T'ai Chi

Science.gov (United States)

... are different styles of t'ai chi, including: Chen style Hao (or Wu Shi) style Hu Lei ... medical advice, diagnoses, and treatment, consult your doctor. © 1995- The Nemours Foundation. All rights reserved. Images provided ...

Biomass Burning 5x5 degree data in Native Format

Data.gov (United States)

National Aeronautics and Space Administration — The BIO_MASS_5X5_HAO_NAT data set contains data representing the geographical and temporal distribution of total amount of biomass burned. The data were collected by...

Performance test of solar-assisted ejector cooling system

KAUST Repository

Huang, Bin-Juine

2014-03-01

A solar-assisted ejector cooling/heating system (SACH-2k) is built and test result is reported. The solar-driven ejector cooling system (ECS) is connected in series with an inverter-type air conditioner (IAC). Several advanced technologies are developed in SACH-k2, including generator liquid level control in ECS, the ECS evaporator temperature control, and optimal control of fan power in cooling tower of ECS. From the field test results, the generator liquid level control performs quite well and keeps stable performance of ejector. The ECS evaporator temperature control also performs satisfactorily to keep ejector performance normally under low or fluctuating solar radiation. The fan power control system cooling tower performs stably and reduces the power consumption dramatically without affecting the ECS performance. The test results show that the overall system COPo including power consumptions of peripheral increases from 2.94-3.3 (IAC alone) to 4.06-4.5 (SACH-k2), about 33-43%. The highest COPo is 4.5. © 2013 Elsevier Ltd and IIR. All rights reserved.

The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported

Science.gov (United States)

Maegawa, Gustavo H. B.; Stockley, Tracy; Tropak, Michael; Banwell, Brenda; Blaser, Susan; Kok, Fernando; Giugliani, Roberto; Mahuran, Don; Clarke, Joe T. R.

2010-01-01

OBJECTIVE Juvenile GM2 gangliosidosis is a group of inherited neurodegenerative diseases caused by deficiency of lysosomal β-hexosaminidase resulting in GM2 ganglioside accumulation in brain. The purpose of this study was to delineate the natural history of the condition and identify genotype-phenotype correlations that might be helpful in predicting the course of the disease in individual patients. METHODS A cohort of 21 patients with juvenile GM2 gangliosidosis, 15 with the Tay-Sachs variant and 6 with the Sandhoff variant, was studied prospectively in 2 centers. Our experience was compared with previously published reports on 134 patients. Information about clinical features, β-hexosaminidase enzyme activity, and mutation analysis was collected. RESULTS In our cohort of patients, the mean (±SD) age of onset of symptoms was 5.3 ± 4.1 years, with a mean follow-up time of 8.4 years. The most common symptoms at onset were gait disturbances (66.7%), incoordination (52.4%), speech problems (28.6%), and developmental delay (28.6%). The age of onset of gait disturbances was 7.1 ± 5.6 years. The mean time for progression to becoming wheelchair-bound was 6.2 ± 5.5 years. The mean age of onset of speech problems was 7.0 ± 5.6 years, with a mean time of progression to anarthria of 5.6 ± 5.3 years. Muscle wasting (10.6 ± 7.4 years), proximal weakness (11.1 ± 7.7 years), and incontinence of sphincters (14.6 ± 9.7 years) appeared later in the course of the disease. Psychiatric disturbances and neuropathy were more prevalent in patients with the Sandhoff variant than in those with the Tay-Sachs variant. However, dysphagia, sphincter incontinence, and sleep problems occurred earlier in those with the Tay-Sachs variant. Cerebellar atrophy was the most common finding on brain MRI (52.9%). The median survival time among the studied and reviewed patients was 14.5 years. The genotype-phenotype correlation revealed that in patients with the Tay-Sachs variant, the presence

Influence of free water content on the compressive mechanical ...

Indian Academy of Sciences (India)

tars with different water content, the upward section of the stress–strain curve ..... Recent work by Zhou & Hao (2008) also provide computational confirmation ... these volume change may be closely related to micro-capillarity action in the ...

CT diagnosis with shoulder joint injuries

International Nuclear Information System (INIS)

Gay, B.; Hoerl, M.; Schindler, G.

1986-01-01

With recidivistic shoulder luxation the CT examination makes possible the objective comprehension of predisposable anatomical evidence as well as the proof of posttraumatic changes. Changes in the acetabular margin (Bankart lesion) as well as in the humerus head (Hills-Sachs lesion) are depicted with recidivistic shoulder luxation as the morphological substrate of the posttraumatic damage. Individual examinations of 83 patients with recidivistic shoulder luxations showed that the mentioned changes often appear in combinations. With the CT examination the Hills-Sachs lesion can be comprehended and its location, extension and depth can be judged as well. (orig./MG) [de

African Journal of Biotechnology - Vol 11, No 41 (2012)

African Journals Online (AJOL)

Lenaldo Muniz de Oliveira, Nayra da Silva Negreiros Cardoso, Luzimar Gonzaga .... Ju-Hong Zhang, Jian-Ying Guo, Jing-Yuan Xia, Fang-Hao Wan, 9873-9880 ... Zhu Xiao-yan, Chang Shu-juan, Zhang Ying-jun, Luo Hai-ling, 9894-9905.

J. Astrophys. Astr. (2014) 35, 745–746 Acknowledgments Journal of ...

Indian Academy of Sciences (India)

BetiCiciJoan

Vidal, V., Chile von Fay-Siebenburgen, Robertus, Sheffield, United Kingdom. Wadadekar Yogesh, Pune, India. Wei Hao, China. Wickramasinghe Thulsi, New Jersey, United States. Wiita, Paul, J., New Jersey, United States. Yadav, Ramakant, Nainital, India. Yashiro Seiji, Washington, United States. 746. Acknowledgements.

Hiinlased tahavad ehitada Ringtee silda

Index Scriptorium Estoniae

2007-01-01

2007. a. suvel kohtusid Tartu linnajuhtidega Shangai projekteerimisfirma Lin Tung-Yen & Li Guo-Hao Consultants Ltd ja Jiangsu provintsist pärit ehitusfirma Jiangyn Bridge Engineering Ltd esindajad, et esitada oma nägemus Tartusse planeeritavast Ringtee sillast. Anto Ili kommentaar

Kaubandussanktsioonide otstarbekusest / Jeffrey D. Sachs

Index Scriptorium Estoniae

Sachs, Jeffrey D.

2003-01-01

Autor leiab, et kaubandus- ja finantssanktsioonide rakendamine diktaatorlikele režiimidele on vale lähenemine, kuna rahvusvaheline marginaalitsemine haavab tavalisi kodanikke enam kui despootlikke süsteeme.

Learning about Tay-Sachs Disease

Science.gov (United States)

... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

Efficiency of oxygen: absorbing sachets in different relative humidities and temperatures Eficiência de absorvedores de oxigênio sob diferentes umidades relativas e temperaturas

Directory of Open Access Journals (Sweden)

Renato Souza Cruz

2007-12-01

Full Text Available The main objective of this work was to evaluate the efficiency of oxygen - absorbing sachets at relative humidity of 75%, 80% and 85% and different temperatures, 10±2 ºC and 25±2 ºC. The experiment consisted in determining the O2 absorption under these conditions. A sachet was placed in desiccators with an internal air homogenization system. Aliquots of air were removed at pre-established time intervals and analyzed for oxygen content. The results showed that oxygen absorption by the sachet increased as the relative humidity increased for both temperature. Therefore the oxygen - absorbing sachets were most active under 25±2ºC and 85% relative humidity. At ambient condition (25±2ºC/75%RH the rate of oxygen absorbed was 50 mL/day and 18,5 mL/day for 10±2ºC. It was used a totally casualized design with three replicates.O objetivo principal deste trabalho foi avaliar a eficiência de sachês absorvedores de oxigênio a 75%, 80% e 85% de umidade relativa e diferentes temperaturas, 10±2 ºC e 25±2 ºC. O experimento consiste em determinar a absorção de O2 sob essas condições. Um sachê foi colocado dentro de um dessecador contendo um sistema de homogeneização do ar interno. Alíquotas de ar são retiradas dos dessecadores em intervalos de tempos pré-estabelecido e seu conteúdo de oxigênio analisado. Os resultados mostraram que a absorção de oxigênio pelos saches aumentaram com o aumento da temperatura para ambas as temperaturas. No entanto, os sachês mostraram uma maior eficiência para 85% de umidade relativa e 25±2ºC de temperatura. Na condição ambiente (25±2ºC/75%RH, a taxa de absorção dos sachês foi de 50 mL/dia e 18,5 mL/dia para 10±2ºC. O experimento foi conduzido com delineamento experimental inteiramente casualizado, com três repetições.

Open problems and results in the group theoretic approach to quantum gravity via the BMS group and its generalizations

International Nuclear Information System (INIS)

Melas, Evangelos

2011-01-01

The Bondi-Metzner-Sachs group B is the common asymptotic group of all asymptotically flat (lorentzian) space-times, and is the best candidate for the universal symmetry group of General Relativity. However, in quantum gravity, complexified or euclidean versions of General Relativity are frequently considered. McCarthy has shown that there are forty-two generalizations of B for these versions of the theory and a variety of further ones, either real in any signature, or complex. A firm foundation for quantum gravity can be laid by following through the analogue of Wigner's programme for special relativity with B replacing the Poincare group P. Here the main results which have been obtained so far in this research programme are reported and the more important open problems are stated.

Effect of heavy metals on nitrification activity as measured by RNA- and DNA-based function-specific assays

Science.gov (United States)

Heavy metals can inhibit nitrification, a key process for nitrogen removal in wastewater treatment. The transcriptional responses of functional genes (amoA, hao, nirK and norB) were measured in conjunction with specific oxygen uptake rate (sOUR) for nitrifying enrichment cultures...

Sheet universes and the shapes of Friedmann universes

International Nuclear Information System (INIS)

Lynden-Bell, D.; Redmount, I.H.

1989-01-01

Unless Ω>1,the Big Bang did not start from a point. Consideration shows sheet universes in which matter is confined to a homogeneous universe. Sheet universes and the corresponding embeddings of FRW universes into Minkowski space are drawn. Their initial singularities are shown to be point-like for the 'closed' case, line-like for the 'flat' (Ω=1) case and surface-like for the 'open' case. In contrast to the cross-sections at constant comoving proper time, typical spacelike cross-sections of the 'flat' universes are closed and encounter their extensive singularities. All cross-sections of the 'closed' universe are closed and only very special cross-sections encounter the point singularities at the Big Bang or the Big Crunch. (author)

Making metals transparency for white light by surface plasmons

Science.gov (United States)

Peng, Ru-Wen; Huang, Xian-Rong; Fan, Ren-Hao; Li, Jia; Hu, Qing; Wang, Mu

2012-02-01

We demonstrate both experimentally and theoretically that metallic gratings consisting of narrow slits become transparent for extremely broad bandwidths under oblique incidence. This phenomenon can be explained by a concrete picture in which the incident wave drives free electrons on the conducting surfaces and part of the slit walls to form surface plasmons (SPs). The SPs then propagate on the slit walls but are abruptly discontinued by the bottom edges to form oscillating charges that emit the transmitted wave. This picture explicitly demonstrates the conversion between light and SPs and indicates clear guidelines for enhancing SP excitation and propagation. Making structured metals transparent may lead to a variety of applications. References: Xian-Rong Huang, Ru-Wen Peng, and Ren-Hao Fan, Phys. Rev. Lett. (2010)105, 243901; and Ren-Hao Fan, Ru-Wen Peng, Xian-Rong Huang, Jia Li, Qing Hu, and Mu Wang, manuscript prepared(2011).

Aerobic and heterotrophic nitrogen removal by Enterobacter cloacae CF-S27 with efficient utilization of hydroxylamine.

Science.gov (United States)

Padhi, Soumesh Kumar; Tripathy, Swetaleena; Mohanty, Sriprakash; Maiti, Nikhil Kumar

2017-05-01

Heterotrophic bacterium, Enterobacter cloacae CF-S27 exhibited simultaneous nitrification and aerobic denitrification in presence of high concentration of hydroxylamine. With the initial nitrogen concentration of 100mgL -1 h -1 , ammonium, nitrate and nitrite removal efficiencies were 81%, 99.9% and 92.8%, while the corresponding maximum removal rates reached as high as 11.6, 15.1 and 11.2mgL -1 h -1 respectively. Quantitative amplification by real time PCR and enzyme assay demonstrated that hydroxylamine reductase gene (hao) is actively involved in hetrotrophic nitrification and aerobic denitrification process of Enterobacter cloacae CF-S27. PCR primers were designed targeting amplification of hao gene from diversified environmental soil DNA. The strain Enterobacter cloacae CF-S27 significantly maintained the undetectable amount of dissolved nitrogen throughout 60days of zero water exchange fish culture experiment in domestic wastewater. Copyright © 2017 Elsevier Ltd. All rights reserved.

78 FR 23963 - Self-Regulatory Organizations; NYSE MKT LLC; Notice of Filing and Immediate Effectiveness of...

Science.gov (United States)

2013-04-23

... Strategic Investments Corporation (``BAML''), Barclays Electronic Commerce Holdings Inc. (``Barclays... & Co. (``Goldman Sachs''), Datek Online Management Corp. (``TD Ameritrade'') and UBS Americas Inc...

University-Community Engagement: Case Study of University Social Responsibility

Science.gov (United States)

Chile, Love M.; Black, Xavier M.

2015-01-01

Corporatisation of universities has drawn parallels between contemporary universities and business corporations, and extended analysis of corporate social responsibility to universities. This article reports on a case study of university-community engagement with schools and school communities through youth engagement programmes to enhance…

Erratum: Erratum to: Realistic interpretation of quantum mechanics and encounter-delayed-choice experiment

Science.gov (United States)

Long, GuiLu; Qin, Wei; Yang, Zhe; Li, Jun-Lin

2018-05-01

In our article [1] we made a mistake in citing ref. [32], which is the same as ref. [28]. We now replace ref. [32] with the correct reference "L. Hao, D. Liu, and G. L. Long, Sci. China Phys. Mech. Astron. 53, 1765 (2010)" [2].

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Indian Academy of Sciences (India)

Madhu

ROS network is essential to induce disease resistance and even to mediate resistance to multiple stresses in ...... campestris and French bean mesophyll cells; Plant J. 15 .... He Y, Tang R H, Hao Y, Stevens R D, Cook C W, Ahn S M, Jing L,.

African Journal of Biotechnology - Vol 8, No 11 (2009)

African Journals Online (AJOL)

Sequence analysis and over-expression of ribosomal protein S28 gene (RPS28) from the Giant Panda · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. W Hou, Y Hou, Y Hao, Y Du, T Zhang, Z Peng ...

Stem Cell Transplant for Inborn Errors of Metabolism

Science.gov (United States)

2017-12-03

Adrenoleukodystrophy; Metachromatic Leukodystrophy; Globoid Cell Leukodystrophy; Gaucher's Disease; Fucosidosis; Wolman Disease; Niemann-Pick Disease; Batten Disease; GM1 Gangliosidosis; Tay Sachs Disease; Sandhoff Disease

Exploring the relationship between university internationalization and university autonomy

DEFF Research Database (Denmark)

Turcan, Romeo V.; Gullieva, Valeria

This paper explores a research gap at the intersection of university internationalization and university autonomy. A process model of university internationalization is put forward whereby the process of university internationalization is mediated by university internationalization capacity...... and moderated by target country institutional autonomy and globalization; and entry modes, timing and pace, as well as product mix of internationalization define university’s internationalization pattern. A systematic review is conducted to identify empirical studies at this intersection. One of the questions...

Study of university students' attitudes toward office space at universities

Directory of Open Access Journals (Sweden)

S.M. Eteadifard

2017-06-01

Full Text Available Office space is the space where students first experience the university. In this paper, the attitude of students toward office space in the public sphere of university is discussed. This article is the result of the research conducted for the “Institute for Social and Cultural Studies” by the author. The main issues in this paper are: university students' attitudes towards quality office space at the universities and mental basis of common issues among students at the universities. Data were collected through individual and group interviews. More than eighty interviews with activists and students of University of Tehran, Shahid Beheshti University, Allameh Tabataba’i University, Sharif University of Technology and Kharazmi University were done. The main indicators of office space in this study include: students’ satisfaction of office space, students’ welfare affairs and students’ feedback about this space. Problems and obstacles relating to the office space and their solutions were also studied in this paper.

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).

Science.gov (United States)

Clarke, Joe T R; Mahuran, Don J; Sathe, Swati; Kolodny, Edwin H; Rigat, Brigitte A; Raiman, Julian A; Tropak, Michael B

2011-01-01

Late-onset GM2 gangliosidosis is an autosomal recessive, neurodegenerative, lysosomal storage disease, caused by deficiency of ß-hexosaminidase A (Hex A), resulting from mutations in the HEXA (Tay-Sachs variant) or the HEXB (Sandhoff variant) genes. The enzyme deficiency in many patients with juvenile or adult onset forms of the disease results from the production of an unstable protein, which becomes targeted for premature degradation by the quality control system of the smooth endoplasmic reticulum and is not transported to lysosomes. In vitro studies have shown that many mutations in either the α or β subunit of Hex A can be partially rescued, i.e. enhanced levels of both enzyme protein and activity in lysosomes, following the growth of patient cells in the presence of the drug, pyrimethamine. The objectives of the present clinical trial were to establish the tolerability and efficacy of the treatment of late-onset GM2 gangliosidosis patients with escalating doses of pyrimethamine, to a maximum of 100 mg per day, administered orally in a single daily dose, over a 16-week period . The primary objective, tolerability, was assessed by regular clinical examinations, along with a panel of hematologic and biochemical studies. Although clinical efficacy could not be assessed in this short trial, treatment efficacy was evaluated by repeated measurements of leukocyte Hex A activity, expressed relative to the activity of lysosomal ß-glucuronidase. A total of 11 patients were enrolled, 8 males and 3 females, aged 23 to 50 years. One subject failed the initial screen, another was omitted from analysis because of the large number of protocol violations, and a third was withdrawn very early as a result of adverse events which were not drug-related. For the remaining 8 subjects, up to a 4-fold enhancement of Hex A activity at doses of 50 mg per day or less was observed. Additionally marked individual variations in the pharmacokinetics of the drug among the patients were

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

Science.gov (United States)

Clarke, Joe T.R.; Mahuran, Don J.; Sathe, Swati; Kolodny, Edwin H.; Rigat, Brigitte A.; Raiman, Julian A.; Tropak, Michael B.

2010-01-01

Late-onset GM2 gangliosidosis is an autosomal recessive, neurodegenerative, lysosomal storage disease, caused by deficiency of β-hexosaminidase A (Hex A), resulting from mutations in the HEXA (Tay–Sachs variant) or the HEXB (Sandhoff variant) genes. The enzyme deficiency in many patients with juvenile or adult onset forms of the disease results from the production of an unstable protein, which becomes targeted for premature degradation by the quality control system of the smooth endoplasmic reticulum and is not transported to lysosomes. In vitro studies have shown that many mutations in either the α or β subunit of Hex A can be partially rescued, i.e. enhanced levels of both enzyme protein and activity in lysosomes, following the growth of patient cells in the presence of the drug, pyrimethamine. The objectives of the present clinical trial were to establish the tolerability and efficacy of the treatment of late-onset GM2 gangliosidosis patients with escalating doses of pyrimethamine, to a maximum of 100 mg per day, administered orally in a single daily dose, over a 16-week period. The primary objective, tolerability, was assessed by regular clinical examinations, along with a panel of hematologic and biochemical studies. Although clinical efficacy could not be assessed in this short trial, treatment efficacy was evaluated by repeated measurements of leukocyte Hex A activity, expressed relative to the activity of lysosomal β-glucuronidase. A total of 11 patients were enrolled, 8 males and 3 females, aged 23 to 50 years. One subject failed the initial screen, another was omitted from analysis because of the large number of protocol violations, and a third was withdrawn very early as a result of adverse events which were not drug-related. For the remaining 8 subjects, up to a 4-fold enhancement of Hex A activity at doses of 50 mg per day or less was observed. Additionally marked individual variations in the pharmacokinetics of the drug among the patients were

Mucopolysaccharidoses

Science.gov (United States)

... Hunter's Hope Foundation[A Leukodystrophy Resource] National MPS Society, Inc. National Tay-Sachs and Allied Diseases ... Definition The mucopolysaccharidoses are a group of inherited metabolic ...

Antioxidant Activities of Various Extracts from Artemisisa selengensis Turcz (LuHao

Directory of Open Access Journals (Sweden)

Yan Chen

2010-07-01

Full Text Available The antioxidant activities of the various extracts and fractions from the herbs of Artemisia selegensis Turcz (AST were investigated by in vitro and in vivo assays. FRAP, DPPH and ABTS assays were used to evaluate the antioxidant activities of the extracts/fractions in vitro. The effect of water extract (WE in reducing oxidative stress in male mice was evaluated. Phenolic acid compounds contribute significantly to the antioxidant activity. From the results of three in vitro antioxidant assays, WE was found to have the highest antioxidant activity, and among the WE subfractions, the water soluble fraction has a significant antioxidant activity. The in vivo antioxidant assay results showed that high doses of WE significantly decrease the MDA level compared to normal diet and D-(+ galactose group (p < 0.05, and the SOD activity of mice given a high dose of WE was the highest. These in vitro and in vivo studies demonstrated that the extracts, especially the WE from AST, have significant antioxidant and free radical scavenging activities. In summary, we propose that AST could be potentially used as a rich source of natural antioxidants.

Our Universe

Science.gov (United States)

Stern, Alan

2001-03-01

The Universe in which we live is unimaginably vast and ancient, with countless star systems, galaxies, and extraordinary phenomena such as black holes, dark matter, and gamma ray bursts. What phenomena remain mysteries, even to seasoned scientists? Our Universe is a fascinating collection of essays by some of the world's foremost astrophysicists. Some are theorists, some computational modelers, some observers, but all offer their insights into the most cutting-edge, difficult, and curious aspects of astrophysics. Compiled, the essays describe more than the latest techniques and findings. Each of the ten contributors offers a more personal perspective on their work, revealing what motivates them and how their careers and lives have been shaped by their desire to understand our universe. S. Alan Stern is Director of the Department of Space Studies at Southwest Research Institute in Boulder, Colorado. He is a planetary scientist and astrophysicist with both observational and theoretical interests. Stern is an avid pilot and a principal investigator in NASA's planetary research program, and he was selected to be a NASA space shuttle mission specialist finalist. He is the author of more than 100 papers and popular articles. His most recent book is Pluto & Charon (Wiley, 1997). Contributors: Dr. John Huchra, Harvard University Dr. Esther Hu, University of Hawaii, Honolulu Dr. John Mather, NASA Goddard Space Flight Center Dr. Nick Gnedin, University of Colorado, Boulder Dr. Doug Richstone, University of Michigan, Ann Arbor Dr. Bohdan Paczynski, Princeton University, NJ Dr. Megan Donahue, Space Telescope Science Institute, Baltimore, MD Dr. Jerry Ostriker, Princeton University, New Jersey G. Bothun, University of Oregon, Eugene

Evaluation and Management of Failed Shoulder Instability Surgery.

Science.gov (United States)

Cartucho, António; Moura, Nuno; Sarmento, Marco

2017-01-01

Failed shoulder instability surgery is mostly considered to be the recurrence of shoulder dislocation but subluxation, painful or non-reliable shoulder are also reasons for patient dissatisfaction and should be considered in the notion. The authors performed a revision of the literature and online contents on evaluation and management of failed shoulder instability surgery. When we look at the reasons for failure of shoulder instability surgery we point the finger at poor patient selection, technical error and an additional traumatic event. More than 80% of surgical failures, for shoulder instability, are associated with bone loss. Quantification of glenoid bone loss and investigation of an engaging Hill-Sachs lesion are determining facts. Adequate imaging studies are determinant to assess labrum and capsular lesions and to rule out associated pathology as rotator cuff tears. CT-scan is the method of choice to diagnose and quantify bone loss. Arthroscopic soft tissue procedures are indicated in patients with minimal bone loss and no contact sports. Open soft tissue procedures should be performed in patients with small bone defects, with hiperlaxity and practicing contact sports. Soft tissue techniques, as postero-inferior capsular plication and remplissage, may be used in patients with less than 25% of glenoid bone loss and Hill-Sachs lesions. Bone block procedures should be used for glenoid larger bone defects in the presence of an engaging Hill-Sachs lesion or in the presence of poor soft tissue quality. A tricortical iliac crest graft may be used as a primary procedure or as a salvage procedure after failure of a Bristow or a Latarjet procedure. Less frequently, the surgeon has to address the Hill-Sachs lesion. When a 30% loss of humeral head circumference is present a filling graft should be used. Reasons for failure are multifactorial. In order to address this entity, surgeons must correctly identify the causes and tailor the right solution.

Assessment of the efficiency of essential oils in the preservation of postharvest papaya in an antimicrobial packaging system Avaliação da eficiência de óleos essenciais na preservação pós-colheita de mamão mediante um sistema de embalagem antimicrobiana

Directory of Open Access Journals (Sweden)

Paula Judith Perez Espitia

2012-12-01

Full Text Available Rot and damage caused by post-harvest phytopathogenic fungi affect fruit quality. Essential oils (EO are considered as an alternative to fungicides. Postharvest diseases of fruits may also be controlled by the bagging approach and the use of antimicrobial packaging. Based on the beneficial properties of EO and the concepts of bagging and antimicrobial packaging, this study aimed to develop sachets containing EO to be used as part of an antimicrobial packaging system. The activities of oregano, cinnamon and lemon grass EO were evaluated testing the sachets in vitro against the phytopathogenic fungi Alternaria alternata, Fusarium semitectum, Lasiodiplodia theobromae and Rhizopus stolonifer. The effects of the sachets on the microbiological and physicochemical parameters of post-harvest papaya were also evaluated. Both pure and sachet-incorporated EO showed antifungal activity in vitro against all tested fungi. For papaya, sachets containing cinnamon, oregano and lemon grass showed a significant reduction in the growth of mesophilic aerobic bacteria, yeasts and mould, with the cinnamon sachet causing the greatest reduction in microorganisms at the end of the storage time. Physicochemical parameters of papaya, such as weight loss, colour, firmness, total soluble solids/titratable acidity ratio and pH were not significantly altered by the presence of EO sachets, thus not affecting the natural ripening process of the papaya.Podridão e danos pós-colheita causados por fungos fitopatogênicos afetam a qualidade das frutas. Óleos essenciais (OE têm sido considerados como uma alternativa ao uso de fungicidas. Uma alternativa para o controle de doenças pós-colheita dos frutos é a técnica de ensacamento. Portanto, baseado nas propriedades benéficas dos OE e no conceito de ensacamento, este trabalho teve como objetivo desenvolver sachês incorporados com OE para serem usados como parte de um sistema de embalagem antimicrobiana. A atividade dos OE de

78 FR 18393 - Self-Regulatory Organizations; the NASDAQ Stock Market LLC; Order Granting Approval of a Proposed...

Science.gov (United States)

2013-03-26

... Financial and Quantitative Analysis, Vol. 44, 1427-1457 (2009) (``Weaver Study''); H. Bessembinder, J. Hao.... Venkataraman & A. Waisburd, ``The Value of the Designated Market Maker'' Journal of Financial and Quantitative... Value of the Specialist: Empirical Evidence from the CBOE'' Journal of Financial Markets, Vol. 9, no. 2...

Broad-Band Spectral Indices Variability of BL Lacertae by Wavelet ...

Indian Academy of Sciences (India)

by Wavelet Method. Hao-Jing Zhang1,2,∗, Jing-Ming Bai1, Yu-Ying Bao3 & Xiong Zhang2. 1Yunnan Astronomical Observatory, National Astronomical Observatory, ... 3Department of Physics, Yuxi Teachers' College, Yuxi, Yunnan 653100, China. ∗ ... broad-band spectral indices—periodic variation—methods: numerical:.

Trend analysis and change point detection of annual and seasonal ...

Indian Academy of Sciences (India)

elevation ranges from 0 m in the coastal areas of the. Persian Gulf to over ... been explained by Kang and Yusof (2012); Dhorde ...... J L 2004 Detection of statistically significant trends in ... Sun H, Chen Y, Li W, Li F, Chen Y, Hao X and Yang Y.

Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage.

Science.gov (United States)

Lew, Raelia; Burnett, Leslie; Proos, Anné

2011-12-01

The Australasian Community Genetics Program provided a preconception screening for Tay-Sachs disease (TSD) to 4,105 Jewish high school students in Sydney and Melbourne over the 12-year period 1995-2007. By correlating the frequencies of mutant HEXA, MIM *606869 (gene map locus 15q23-q24) alleles with subjects' nominated ethnicity (Ashkenazi/Sephardi/Mixed) and grandparental birthplaces, we established that Ashkenazi ethnicity is a better predictor of TSD carrier status than grandparental ancestral origins. Screening self-identified Ashkenazi subjects detected 95% of TSD carriers (carrier frequency 1:25). Having mixed Ashkenazi and non-Ashkenazi heritage reduced the carrier frequency (1:97). South African heritage conveyed a fourfold risk of c.1421 + 1G > C mutation compared with other AJ subjects (odds ratio (OR), 4.19; 95% confidence interval (CI), 1.83-9.62, p = 0.001), but this was the only specific case of ancestral origin improving diagnostic sensitivity over that based on determining Ashkenazi ethnicity. Carriers of c.1278insTATC mutations were more likely to have heritage from Western Europe (OR, 1.65 (95% CI, 1.04-2.60), p = 0.032) and South Eastern Europe (OR, 1.77 (95% CI, 1.14-2.73), p = 0.010). However, heritage from specific European countries investigated did not significantly alter the overall odds of TSD carrier status.

Effect of Battlefield Acupuncture and Physical Therapy Versus Physical Therapy Alone After Shoulder Surgery

Science.gov (United States)

2018-05-14

Opioid Use; Pain, Postoperative; SLAP Lesion; Bankart Lesion; Subacromial Impingement Syndrome; Rotator Cuff Tear; Glenohumeral Dislocation; Glenohumeral Subluxation; Hill Sach Lesion; Bony Bankart Lesion; Acromioclavicular Separation

Crystallization and preliminary X-ray crystallographic analysis of a new crystal form of hydroxylamine oxidoreductase from Nitrosomonas europaea

International Nuclear Information System (INIS)

Cedervall, Peder E.; Hooper, Alan B.; Wilmot, Carrie M.

2009-01-01

A new crystal form of N. europaea hydroxylamine oxidoreductase (space group P2 1 2 1 2) diffracted to 2.25 Å resolution at a third-generation synchrotron X-ray source. Hydroxylamine oxidoreductase (HAO) from Nitrosomonas europaea is a homotrimeric protein that catalyzes the oxidation of hydroxylamine to nitrite. Each monomer, with a molecular weight of 67.1 kDa, contains seven c-type hemes and one heme P460, the porphyrin ring of which is covalently linked to a tyrosine residue from an adjacent subunit. HAO was first crystallized and structurally characterized at a resolution of 2.8 Å in 1997. The structure was solved in space group P6 3 and suffered from merohedral twinning. Here, a crystallization procedure is presented that yielded untwinned crystals belonging to space group P2 1 2 1 2, which diffracted to 2.25 Å resolution and contained one trimer in the asymmetric unit. The unit-cell parameters were a = 140.7, b = 142.6, c = 107.4 Å

An efficient chaotic maps-based authentication and key agreement scheme using smartcards for telecare medicine information systems.

Science.gov (United States)

Lee, Tian-Fu

2013-12-01

A smartcard-based authentication and key agreement scheme for telecare medicine information systems enables patients, doctors, nurses and health visitors to use smartcards for secure login to medical information systems. Authorized users can then efficiently access remote services provided by the medicine information systems through public networks. Guo and Chang recently improved the efficiency of a smartcard authentication and key agreement scheme by using chaotic maps. Later, Hao et al. reported that the scheme developed by Guo and Chang had two weaknesses: inability to provide anonymity and inefficient double secrets. Therefore, Hao et al. proposed an authentication scheme for telecare medicine information systems that solved these weaknesses and improved performance. However, a limitation in both schemes is their violation of the contributory property of key agreements. This investigation discusses these weaknesses and proposes a new smartcard-based authentication and key agreement scheme that uses chaotic maps for telecare medicine information systems. Compared to conventional schemes, the proposed scheme provides fewer weaknesses, better security, and more efficiency.

The Learning University.

Science.gov (United States)

Patterson, Glenys

1999-01-01

As universities make cross-sectoral alliances, various models for integrating postsecondary education into universities arise: contract, brokerage, collaborative, validation, joint program, dual-sector institution, tertiary university, metaphoric, and federal. The integrated, comprehensive university is the learning university of the 21st century.…

Between universalism and regionalism: universal systematics from imperial Japan.

Science.gov (United States)

Lee, Jung

2015-12-01

Historiographic discussions of the universality and regionality of science have to date focused on European cases for making regional science universal. This paper presents a new perspective by moving beyond European origins and illuminating a non-European scientist's engagement with the universality and regionality of science. It will examine the case of the Japanese botanist Nakai Takenoshin (1882-1952), an internationally recognized authority on Korean flora based at Tokyo Imperial University. Serving on the International Committee on Botanical Nomenclature in 1926, Nakai endorsed and acted upon European claims of universal science, whilst simultaneously unsettling them with his regionally shaped systematics. Eventually he came to promote his own systematics, built regionally on Korean flora, as the new universal. By analysing his shifting claims in relation to those of other European and non-European botanists, this paper makes two arguments. First, universalism and regionalism were not contradictory foundations of scientific practice but useful tools used by this non-European botanist in maintaining his scientific authority as a representative Japanese systematist. Second, his claims to universality and regionalism were both imperially charged. An imperially monopolized study of Korean plants left a regional imprint on Nakai's systematics. In order to maintain his scientific authority beyond its region of origin he had to assert either the expanding regionalism of 'East Asia' or universalism.

Universe symmetries

International Nuclear Information System (INIS)

Souriau, J.M.

1984-01-01

The sky uniformity can be noticed in studying the repartition of objects far enough. The sky isotropy description uses space rotations. The group theory elements will allow to give a meaning at the same time precise and general to the word a ''symmetry''. Universe models are reviewed, which must have both of the following qualities: - conformity with the physic known laws; - rigorous symmetry following one of the permitted groups. Each of the models foresees that universe evolution obeys an evolution equation. Expansion and big-bang theory are recalled. Is universe an open or closed space. Universe is also electrically neutral. That leads to a work hypothesis: the existing matter is not given data of universe but it appeared by evolution from nothing. Problem of matter and antimatter is then raised up together with its place in universe [fr

Journal of Earth System Science | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Earth System Science; Volume 125; Issue 8. Formation and evolution of yardangs activated by Late Pleistocene tectonic movement in Dunhuang, Gansu Province of China. Yanjie Wang Fadong Wu Xujiao Zhang Peng Zeng Pengfei Ma Yuping Song Hao Chu. Volume 125 Issue 8 December ...

Experiment list: DRX014570 [Chip-atlas[Archive

Lifescience Database Archive (English)

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Experiment list: DRX014568 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available gy=aortic endothelial cells || cell ontology uri=http://...ause of death=Pneumonia || disease ontology uri=http://purl.obolibrary.org/obo/DOID_552 || total cell count=..._type=primary cells || tissue_type=the endothelium of blood vessels || ihec ref=JTK002 || cell type abbreviation=HAoEC || cell ontolo

Experiment list: DRX014572 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available gy=aortic endothelial cells || cell ontology uri=http://...ause of death=Pneumonia || disease ontology uri=http://purl.obolibrary.org/obo/DOID_552 || total cell count=..._type=primary cells || tissue_type=the endothelium of blood vessels || ihec ref=JTK002 || cell type abbreviation=HAoEC || cell ontolo

Experiment list: DRX014569 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available gy=aortic endothelial cells || cell ontology uri=http://...ause of death=Pneumonia || disease ontology uri=http://purl.obolibrary.org/obo/DOID_552 || total cell count=..._type=primary cells || tissue_type=the endothelium of blood vessels || ihec ref=JTK002 || cell type abbreviation=HAoEC || cell ontolo

University Teachers' Perception of Inclusion of Visually Impaired in Ghanaian Universities

Science.gov (United States)

Mamah, Vincent; Deku, Prosper; Darling, Sharon M.; Avoke, Selete K.

2011-01-01

This study was undertaken to examine the university teachers' perception of including students with Visual Impairment (VI) in the public universities of Ghana. The sample consisted of 110 teachers from the University of Cape Coast (UCC), the University of Education, Winneba, (UEW), and the University of Ghana (UG). Data were collected through…

Private Universities in Zimbabwe: The Case of Africa University ...

African Journals Online (AJOL)

Whilst many of these challenges are shared with other private universities in Zimbabwe, a few are peculiar to Africa University. This paper discusses Africa University's experience with regard to establishment, nature, institutional marketing and student recruitment, programmes, governance, finding and other external factors ...

Behavioral medicine in Teikyo University and Toho University

OpenAIRE

Takeuchi, Takeaki; Hashizume, Masahiro

2016-01-01

Behavioral medicine has increased in importance to become a promising field in medical education. The Teikyo University Graduate School of Public Health and Toho University School of Medicine were evaluated in terms of their educational emphasis on behavioral medicine. The Teikyo University Graduate School of Public Health has the following five core requirements, as in the global standards: behavioral medicine, biostatistics, epidemiology, occupational health, and health policy management. B...

UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells

Science.gov (United States)

2018-03-15

Adrenoleukodystrophy; Batten Disease; Mucopolysaccharidosis II; Leukodystrophy, Globoid Cell; Leukodystrophy, Metachromatic; Neimann Pick Disease; Pelizaeus-Merzbacher Disease; Sandhoff Disease; Tay-Sachs Disease; Brain Diseases, Metabolic, Inborn; Alpha-Mannosidosis; Sanfilippo Mucopolysaccharidoses

Early Predictors of First-Year Academic Success at University: Pre-University Effort, Pre-University Self-Efficacy, and Pre-University Reasons for Attending University

Science.gov (United States)

van Herpen, Sanne G. A.; Meeuwisse, Marieke; Hofman, W. H. Adriaan; Severiens, Sabine E.; Arends, Lidia R.

2017-01-01

Given the large number of dropouts in the 1st year at university, it is important to identify early predictors of 1st-year academic success. The present study (n = 453 first-year students) contributes to literature on the transition from secondary to higher education by investigating how the non-cognitive factors "pre-university" effort…

Towards a University of the Common: Reimagining the University in Order to Abolish It with the Really Open University

Directory of Open Access Journals (Sweden)

Andre Pusey

2017-07-01

Full Text Available The autumn of 2010, in the UK, was characterised by a series of protests against the proposed tripling of university tuition fees and the removal of the Education Maintenance Allowance (EMA. These protests were set within a broader international background of contestation around universities and higher education reforms. This article focuses on the activities of a group, which emerged within this context, called the Really Open University (ROU, and its efforts to engender a reimagining of the university. Specifically, this article argues that the activities of the ROU were attempts to create new, radical imaginaries of the university and were linked to broader efforts to re-conceptualise knowledge production and pedagogy. The central point is that ultimately the ROU’s invitation to ‘reimagine the university’ was a provocation to abolish the university in its capitalist form, through a process of reimagining the university, exodus from the university machine and creation of a university of the common.

A lightweight universe?

Science.gov (United States)

Bahcall, Neta A.; Fan, Xiaohui

1998-01-01

How much matter is there in the universe? Does the universe have the critical density needed to stop its expansion, or is the universe underweight and destined to expand forever? We show that several independent measures, especially those utilizing the largest bound systems known—clusters of galaxies—all indicate that the mass-density of the universe is insufficient to halt the expansion. A promising new method, the evolution of the number density of clusters with time, provides the most powerful indication so far that the universe has a subcritical density. We show that different techniques reveal a consistent picture of a lightweight universe with only ∼20–30% of the critical density. Thus, the universe may expand forever. PMID:9600898

Identification and Classification of Player Types in Massive Multiplayer Online Games Using Avatar Behavior

Science.gov (United States)

2011-08-01

Kuan-Ta, Jhih-Wei Jiang, Polly Huang, Hao-Hua Chu, Chin-Laung Lei, and Wen-Chin Chen, “Identifying MMORPG Bots: A Traffic Analysis Approach”, EURASIP...in MMORPGs ”, Proceedings of DiGRA 2005 Conference: Changing Views – Worlds in Play Loeffelholz, Bernard, Earl Bednar, Kenneth W. Bauer, “Predicting

Journal of Chemical Sciences | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Chemical Sciences. Mei Luo. Articles written in Journal of Chemical Sciences. Volume 127 Issue 1 January 2015 pp 163-166 Regular Articles. Efficient one-pot synthesis of 2-oxazolines from benzoylacetonitrile and -aminoalcohols mediated by ZnCl2 · Mei Luo Jing Cheng Zhang Hao Yin.

Olive oil adulterated with hazelnut oils: simulation to identify possible risks to allergic consumers

NARCIS (Netherlands)

Arlorio, M.; Coisson, J. D.; Bordiga, M.; Travaglia, F.; Garino, C.; Zuidmeer, L.; van Ree, R.; Giuffrida, M. G.; Conti, A.; Martelli, A.

2010-01-01

According to European Union Regulation EC 1531/2001, olive oil labelled as oextra-virgino should be cold-pressed and contain no refined oil or oil from other oleaginous seeds or nuts. Adulteration of extra virgin olive oil (EVOO) with hazelnut oil (HAO) is a serious concern both for oil suppliers

Experiment list: DRX014575 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available ype=primary cells || tissue_type=the endothelium of blood vessels || ihec ref=JTK002 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://pu...se of death=Pneumonia || disease ontology uri=http://purl.obolibrary.org/obo/DOID_552 || total cell count=11

Experiment list: DRX014567 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available ype=primary cells || tissue_type=the endothelium of blood vessels || ihec ref=JTK002 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://pu...se of death=Pneumonia || disease ontology uri=http://purl.obolibrary.org/obo/DOID_552 || total cell count=11

Experiment list: DRX014571 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available ype=primary cells || tissue_type=the endothelium of blood vessels || ihec ref=JTK002 || cell type abbreviation=HAoEC || cell ontology...=aortic endothelial cells || cell ontology uri=http://pu...se of death=Pneumonia || disease ontology uri=http://purl.obolibrary.org/obo/DOID_552 || total cell count=11

Critical Thinking Traits of Top-Tier Experts and Implications for Computer Science Education

Science.gov (United States)

2007-08-01

experts are at "organizing their knowledge around semantics, even when dealing with the simplest code" [Weiden- beck 1984]. " "The Role of Domain...mentioned study oning Expedited revIew, procedures and baa recommended approval. Approval for this study hao been panted as of January 22,2007. your

Download this PDF file

African Journals Online (AJOL)

Arzu

Antioxidant, antimicrobial, antiulcer and analgesic activities of nettle (Urtica dioica L.). J. Ethnopharmacol. 90: 205-215. 15. Hao, G., Yuan, Y.M., Hu, C.M., Ge, X.J. and Zhao, N.X. (2004). Molecular phylogeny of Lysimachia (Myrsinaceae) based on chloroplast. trnL-F and nuclear ribosomal ITS sequences. Mol. Phylogenet.

The Alien University

DEFF Research Database (Denmark)

Bengtsen, Søren Smedegaard

2018-01-01

- they are alien. The conditions of universities today is not one of crisis and upheaval, as with the postmodern universities, it is one of night travel and exile. The alien university leaves behind the epistemological skirmishes of the postmodern university with all its rhetoric and knowledge activism. Thinking...... in the alien university is a move into a whirlpool of nothingness, a “nocturnal space”, where “[d]arkness fills it like a content; it is full, but full of the nothingness of everything.” (Levinas, 2001, p.53). In the alien university thinking is not situated, and instead of rhizomes, and assemblages of thought......, there is merely an imposing and nightly “swarming of points.” (ibid.). There is no place for the alien university, and exactly this exile of thought makes possible the move beyond postmodernism and the mentality of political crisis. The alien university is not in the future as such, but it is not entirely...

Spinal cord demyelination combined with hyperhomocysteinemia: a case report

Directory of Open Access Journals (Sweden)

Hao MM

2014-11-01

Full Text Available Meimei Hao, Yan Zhang, Shuangxing Hou, Yanling Chen, Ming Shi, Gang Zhao, Yanchun Deng Department of Neurology, Xijing Hospital, Fourth Military Medical University, Xi’an, People’s Republic of China Abstract: Hyperhomocysteinemia (HHcy has been recognized as an independent risk factor for atherosclerotic vascular disease. Here we report a patient who suffered from spinal cord demyelination combined with HHcy. The patient was admitted to our hospital with a diagnosis of acute myelitis. However, hormone therapy was ineffective. Further investigations revealed that he had HHcy and a homozygous mutation of the gene encoding methylenetetrahydrofolate reductase (MTHFR c.677C>T, which is a key enzyme involved in homocysteine metabolism. In view of these findings, we treated the patient with B vitamins and his symptoms gradually improved. Spinal magnetic resonance imaging performed 3 months after onset showed near recovery of the lesion. To our knowledge, similar reports are rare. Keywords: demyelination, hyperhomocysteinemia, homocysteine, methylenetetrahydrofolate reductase, methylation

Vanameister avas rahalaeka / Silvia Viidik

Index Scriptorium Estoniae

Viidik, Silvia, 1972-

2008-01-01

Warren Buffett ulatas abikäe investeerimispangale Goldman Sachs, investeerides sinna 5 miljardit dollarit ning tõttas appi General Electricule, kuhu investeeris 3 miljardit dollarit. Vt. samas: Warren Buffett; Berkshire Hathaway

African Journal of Biotechnology - Vol 9, No 15 (2010)

African Journals Online (AJOL)

cDNA, genomic sequence cloning and overexpression of ribosomal protein S16 gene (RPS16) from the Giant Panda · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. W Hou, Y Hou, Y Hao, T Zhang, Z Peng, Y Wu, G Wu, 2185-2191 ...

Universics: a Theory of Universes of Discourse for Metamathematics and Foundations

Directory of Open Access Journals (Sweden)

Ioachim Drugus

2016-04-01

Full Text Available A new type of structures called ``universes'' is introduced to subsume the ``von Neumann universe'', ``Grothendieck universes'' and ``universes of discourse'' of various theories. Theories are also treated as universes, ``universes of ideas'', where ``idea" is a common term for assertions and terms. A dualism between induction and deduction and their treatment on a common basis is provided. The described approach referenced as ``universics'' is expected to be useful for metamathematical analysis and to serve as a foundation for mathematics. As a motivation for this research served the Harvey Friedman's desideratum to develop a foundational theory based on ``induction construction'', possibly comprising set theory. This desideratum emerged due to ``foundational incompleteness'' of set theory. The main results of this paper are an explication of the notion ``foundational completeness'', and a generalization of well-founded-ness.

Runaway universe

Energy Technology Data Exchange (ETDEWEB)

Davies, P

1978-01-01

The subject is covered in chapters entitled: the emerging universe (general introduction, history of astronomical and cosmological research, origins, the expanding universe, stars, galaxies, electromagnetic radiation); primeval fire (the big bang model, origin of the elements, properties of the elements and of sub-atomic particles); order out of chaos (galactic evolution, star formation, nuclear fusion, the solar system, origin of life on Earth); a star called Sol (properties of the sun and of other stars); life in the universe; the catastrophe principle (the rise and fall of cosmic order); stardoom (star evolution, neutron stars); black holes and superholes (gravitational collapse); technology and survival; the dying universe (second law of thermodynamics); worlds without end (cosmological models).

University Pedagogy for Assistant Professors at Aalborg University (Part 2)

DEFF Research Database (Denmark)

Kolmos, Anette; Krogh, Lone

2003-01-01

In issue 1-2003, Anette Kolmos and Lone Krogh reported on the two-semester study course " University Pedagogy for Assistant Professors at Aalborg University (DK)". Now, in part 2, they are adressing guidelines for supervison and advising of assistant professors in the university teacher education...

Competitive universities need to internationalize learning: Perspectives from three European universities

Directory of Open Access Journals (Sweden)

Ana Maria Lara

2009-07-01

Full Text Available The process of restructuring European universities in order to harmonize their educational systems is rapidly approaching a key milestone as 2010 looms large on the horizon. This paper describes an approach to the European Higher Education Area (EHEA based on a real case study of students that belong to five European Universities (University of Burgos, Technical University of Valencia, University of Valladolid, University of Basque Country and University of Applied Sciences Cologne. The objective of this paper is two-fold: on the one hand, to analyze from the student’s point of view how they value the restructuring of teaching as a result of the Bologna process and what are the implications for students with regards to both their academic qualifications and their future incorporation into the labour market; and, on the other hand, to deduce from the results obtained recommendations which may help to guide teachers towards successful internationalization and collaboration between interuniversity networks, as well as achieving greater standards of quality within university teaching. Only this would permit an environment in which students are capable of developing the necessary competences, and put into practice learning outcomes. The results show that students value communication, innovative proposals and cooperation between universities; the internationalization of knowledge between universities has been positively accepted and this has motivated research to place a stronger focus on this aspect; it impacts strongly on scientific productivity, improves the quality of education offered by the teaching staff, and leads to greater student mobility. This strategy is intrinsically linked to learning from local experiences shared by members of the same university as well as from more global experiences made available through inter-university networks. It implies being willing to listen, to communicate, to engage in dialogue and means that we must

University Performance Management

DEFF Research Database (Denmark)

For the last two decades the Danish Universities have felt the impact of the international trend towards implementation of New Public Management. The results are seen in the implementation of new hierarchical governance structures and contractual governance system including market based quantitat......For the last two decades the Danish Universities have felt the impact of the international trend towards implementation of New Public Management. The results are seen in the implementation of new hierarchical governance structures and contractual governance system including market based...... quantitative measurement systems for resource allocation and performance evaluation. Compared to other countries the changes in performance measurements and governance of the Danish universities are radical and the Minister of Science heralded them as "the greatest change in university management since...... the founding of Copenhagen University in 1479". The changes took place with surprisingly little resistance from university scholars. The articles in this anthology investigate the origins and rationales for the silent managerial revolution at Danish Universities and the radical implications for the identity...

Non-relativistic Bondi-Metzner-Sachs algebra

Science.gov (United States)

Batlle, Carles; Delmastro, Diego; Gomis, Joaquim

2017-09-01

We construct two possible candidates for non-relativistic bms4 algebra in four space-time dimensions by contracting the original relativistic bms4 algebra. bms4 algebra is infinite-dimensional and it contains the generators of the Poincaré algebra, together with the so-called super-translations. Similarly, the proposed nrbms4 algebras can be regarded as two infinite-dimensional extensions of the Bargmann algebra. We also study a canonical realization of one of these algebras in terms of the Fourier modes of a free Schrödinger field, mimicking the canonical realization of relativistic bms4 algebra using a free Klein-Gordon field.

Kohates looduse raevu / Jeffrey D. Sachs

Index Scriptorium Estoniae

Sachs, Jeffrey D.

2005-01-01

Maailma rahvastiku suurenedes suureneb ka inimkonna haavatavus looduskatastroofidest, eeldada võib uute nakkushaiguste teket. Valitsused peaksid koostama analüüse riike varitsevatest ohtudest. Meid ohustavate riskidega toimetulekuks tuleb ületada lõhe poliitikute ja teadlaste vahel. Columbia ülikooli Maa instituudi (Earth Institute) ja Maailmapanga koostöös valminud globaalsest riskianalüüsist

Õppetunnid Põhjamaadest / Jeffrey D. Sachs

Index Scriptorium Estoniae

Sachs, Jeffrey D.

2006-01-01

Columbia ülikooli professori sõnul on Põhjamaad edukalt kombineerinud sotsiaalset heaolu kõrge sissetuleku, tugeva majanduskasvu ja makromajandusliku stabiilsusega. Põhjamaade kogemus kummutab USA konservatiivide väited, et suur avalik sektori kätkeb endas ebatõhususe, juhtimisvigade ja korruptsiooni ohtu ning et kõrged maksud pärsivad majandust

Genetics Home Reference: Tay-Sachs disease

Science.gov (United States)

... NIH Resources (4 links) GeneEd National Human Genome Research Institute National Institute of Neurological Disorders and Stroke: Lipid Storage Diseases Fact Sheet National Institute of Neurological ...

[Changes in body weight of the university students at university].

Science.gov (United States)

Soto Ruiz, María Nelia; Aguinaga Ontonso, Inés; Canga Armayor, Navidad; Guillén-Grima, Francisco; Hermoso de Mendoza, Juana; Serrano Monzo, Inmaculada; Marín Fernández, Blanca

2015-06-01

One of the strategies for the prevention of the obesity is the identification of critical periods of gain weight. Some studies confirm gain weight during the university period. The purpose of the present study was to determine the changes in the body weight of the university students in Navarre. Prospective cohort study. Public University of Navarre and the University of Navarre, in Pamplona. Study examined weight change among 452 students attending at university in Pamplona, during first and third course. Four hundred and fifty two students completed the questionnaire. Weight and height were measures and body mass index was calculated. The mean body weight increased 0,600 kg, 1,8 kg for males and no change in body weight was observed in female. 44,7 % of students gained weight (60,8 % of men and 36,8 % of women), and the gain weight was of 3,4 kg. University years are a critical factor for the gain weight, particularly males. Consideration of this, is necessary the development of effective weight gain prevention strategies during the university. Copyright AULA MEDICA EDICIONES 2014. Published by AULA MEDICA. All rights reserved.

Sustaining Community-University Collaborations: The Durham University Model

Directory of Open Access Journals (Sweden)

Andrew Russell

2011-11-01

Full Text Available Durham University has initiated a community outreach and engagement program based on an evolving multifaceted model. This article analyses the components of the model and looks at how our work at Durham has become increasingly embedded in the structures and processes of the university as it has developed. The strengths and weaknesses in what has been achieved are highlighted, as is the future vision for the further development of this innovative community-university program. Keywords Public engagement; community partnerships; employer supported volunteering; corporate social responsibility

University IPRs and knowledge transfer : is university ownership more efficient?

NARCIS (Netherlands)

Crespi, G.A.; Geuna, A.; Nomaler, Z.O.; Verspagen, B.

2010-01-01

This paper addresses an issue that has been largely ignored so far in the empirical literature on the role of patents in university-industry knowledge transfer: does it matter who owns the patents on university research? We observe that especially in Europe, many patents in which university

The expanding universe

CERN Document Server

Lew, Kristi

2011-01-01

People have always been fascinated with the stars above and the universe that contains them. Over the years, astronomers have developed numerous theories to explain how the universe began, how it works, and what its ultimate fate will be. But all of the scientists' questions are far from answered. The Expanding Universe goes beyond the creation of the universe to explain how scientists think the universe works, grows, and changes, including what great thinkers Isaac Newton and Albert Einstein had to say about its fate. Readers will also learn about how researchers are slowly shedding light on

Research-University Governance in Thailand: The Case of Chulalongkorn University

Science.gov (United States)

Rungfamai, Kreangchai

2017-01-01

This specific case of Chulalongkorn University (CU), Thailand, is useful to readers who are interested in comparative aspect of the experiences of research universities in the South East Asian context. This paper aims to provide a description of the environments, changes, and university stakeholders' perceptions in terms of governance arrangements…

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics. Li Jun. Articles written in Journal of Genetics. Volume 90 Issue 2 August 2011 pp 209-215 Research Article. Quantitative trait loci for rice yield-related traits using recombinant inbred lines derived from two diverse cultivars · Xu Feng Bai Li Jun Luo Wen Hao Yan Mallikarjuna Rao Kovi ...

The effect of ultrasound at 256 KHz on Microcystis aeruginosa, with ...

African Journals Online (AJOL)

2012-10-31

Oct 31, 2012 ... for 5 min inhibits the growth of the cyanobacterium Spirulina platensis for 3 d, while a sonication with 20 kHz showed no constant effect (Hao et al., 2004). Several mechanisms were discovered by which ultrasonic treatment affects the cells, of which the collapsing of gas vacu- oles during cavitation was ...

Effects of various forms of lipopolysaccharide on the expression of ...

African Journals Online (AJOL)

Jane

2011-10-05

Oct 5, 2011 ... Lan-jun Bai1, Wings TY Loo2,3,4*, Yiding Dou4, Min Wang5, Hao Liang5, Mary NB Cheung3,4,6 ... The levels of lactate dehydrogenase (LDH), N-terminal pro ...... Li G-R, Sun H-Y, Chen J-B, Zhou Y, Tse H-F, Lau C-P (2009).

Browse Title Index

African Journals Online (AJOL)

Vol 14, No 50 (2015), The simulation analysis of contact characteristics of biomimetic flexible surfaces, Abstract PDF. Sui Xiuhua, He Jing, Zeng Xianwei, Huang Yunqian, Su Xu. Vol 8, No 16 (2009), The single-cell gel electrophoresis assay to determine apoptosis induced by siRNA in Colo 320 cells, Abstract PDF. H Hao, F ...

Formation of Sphere-like Au Nanoparticles on Substrate with Laser Illumination and Their Surface Plasmon Behaviors

Science.gov (United States)

2010-09-17

depends on the material type of the substrate and the metal melting temperature. Based on the reaction -free theory, the contact angle of an Au...Luo, Q.; Zhang, X. Nano Lett. 2004, 4, 1085-1088. (13) Maillard , M.; Huang, P.; Brus, L. Nano Lett. 2003, 3, 1611-1615. (14) Jin, R.; Cao, Y. C.; Hao

University Technology Transfer

Directory of Open Access Journals (Sweden)

Mike Cox

2004-09-01

Full Text Available This article describes the experiences and general observations of the author at Heriot-Watt University and concerns the transfer of university technology for the purposes of commercialisation. Full commercial exploitation of a university invention generally requires transferring that technology into the industrial arena, usually either by formation of a new company or licensing into an existing company. Commercialisation activities need to be carried out in unison with the prime activities of the university of research and teaching. Responsibility for commercialising university inventions generally rests with a specific group within the university, typically referred to as the technology transfer group. Each technology transfer should be considered individually and appropriate arrangements made for that particular invention. In general, this transfer process involves four stages: identification, evaluation, protection and exploitation. Considerations under these general headings are outlined from a university viewpoint. A phased approach is generally preferred where possible for the evaluation, protection and exploitation of an invention to balance risk with potential reward. Evaluation of the potential opportunity for a university invention involves essentially the same considerations as for an industrial invention. However, there are a range of commercial exploitation routes and potential deals so that only general guidelines can be given. Naturally, the final deal achieved is that which can be negotiated. The potential rewards for the university and inventor are both financial (via licensing income and equity realisation and non-financial.

Universe of constant

Science.gov (United States)

Yongquan, Han

2016-10-01

The ideal gas state equation is not applicable to ordinary gas, it should be applied to the Electromagnetic ``gas'' that is applied to the radiation, the radiation should be the ultimate state of matter changes or initial state, the universe is filled with radiation. That is, the ideal gas equation of state is suitable for the Singular point and the universe. Maybe someone consider that, there is no vessel can accommodate radiation, it is because the Ordinary container is too small to accommodate, if the radius of your container is the distance that Light through an hour, would you still think it can't accommodates radiation? Modern scientific determinate that the radius of the universe now is about 1027 m, assuming that the universe is a sphere whose volume is approximately: V = 4.19 × 1081 cubic meters, the temperature radiation of the universe (cosmic microwave background radiation temperature of the universe, should be the closest the average temperature of the universe) T = 3.15k, radiation pressure P = 5 × 10-6 N / m 2, according to the law of ideal gas state equation, PV / T = constant = 6 × 1075, the value of this constant is the universe, The singular point should also equal to the constant Author: hanyongquan

On irreducible representations of the ultrahyperbolic BMS group

International Nuclear Information System (INIS)

McCarthy, Patrick J.; Melas, Evangelos

2003-01-01

The ordinary Bondi-Metzner-Sachs (BMS) group B is the common asymptotic symmetry group of all asymptotically flat Lorentzian space-times. As such, B is the best candidate for the universal symmetry group of General Relativity. However, in studying quantum gravity, space-times with signatures other than the usual Lorentzian one, and complex space-times, are frequently considered. Generalisations of B appropriate to these other signatures have been defined earlier. Here, the generalisation B(2,2) appropriate to the ultrahyperbolic signature (+,+,-,-) is described in detail, and the irreducible unitary representations (IRs) of B(2,2) are analysed. It is proved that all induced IRs of B(2,2) arise from IRs of compact 'little groups'. These little groups, which are closed subgroups of K=SO(2)xSO(2), are classified here in detail, with particular attention paid to those of infinite order

The inflationary universe

International Nuclear Information System (INIS)

Linde, A.D.

1984-01-01

According to the inflationary universe scenario the universe in the very early stages of its evolution was exponentially expanding in the unstable vacuum-like state. At the end of the exponential expansion the energy of the unstable vacuum transforms into the energy of hot dense matter. Recently it was realised that the exponential expansion of the universe naturally occurs in a wide class of realistic theories of elementary particles. The inflationary universe scenario makes it possible to obtain a simple solution to many longstanding cosmological problems and leads to a crucial modification of the standard point of view of the large-scale structure of the universe. (author)

The inflationary universe

International Nuclear Information System (INIS)

Guth, A.; Steinhardt, P.

1993-01-01

According to the inflationary model, the universe had a brief period of extraordinary rapid expansion, or inflation, during which its diameter increased by a factor at least 10 25 times larger (and perhaps much larger still) than had been previously thought. All the matter and energy in the universe could have been created from virtually nothing. Features of this article are: comparison of standard and inflationary modes, the horizon problem, the geometry of the universe, spontaneous symmetry breaking and the Higgs mechanism (energy density of the Higgs fields), the flatness problem, the new inflationary universe (new Higgs fields and false vacuum), conserved quantities in the universe. 12 figs., 11 refs

Improving University Ranking to Achieve University Competitiveness by Management Information System

Science.gov (United States)

Dachyar, M.; Dewi, F.

2015-05-01

One way to increase university competitiveness is through information system management. A literature review was done to find information system factors that affect university performance in Quacquarelli Symonds (QS) University Ranking: Asia evaluation. Information system factors were then eliminated using Delphi method through consensus of 7 experts. Result from Delphi method was used as measured variables in PLS-SEM. Estimation with PLS-SEM method through 72 respondents shows that the latent variable academic reputation and citation per paper have significant correlation to university competitiveness. In University of Indonesia (UI) the priority to increase university competitiveness as follow: (i) network building in international conference, (ii) availability of research data to public, (iii) international conference information, (iv) information on achievements and accreditations of each major, (v) ease of employment for alumni.

Efficacy of diagnostic magnetic resonance imaging for articular cartilage lesions of the glenohumeral joint in patients with instability

International Nuclear Information System (INIS)

Hayes, Meredith L.; Collins, Mark S.; Wenger, Doris E.; Morgan, Joseph A.; Dahm, Diane L.

2010-01-01

The purpose of this study was primarily to assess the diagnostic performance of magnetic resonance imaging (MRI) in detecting articular cartilage injuries in patients with glenohumeral instability. A secondary purpose was to assess the diagnostic performance of MRI for detection of Hill-Sachs and Bankart lesions. A cohort of 87 consecutive patients who underwent diagnostic MRI and shoulder arthroscopy for instability from 1997 to 2006 were identified. Fifty-five patients (63.2%) underwent MRI with intra-articular contrast medium and 32 patients (36.8%) underwent MRI without contrast medium. MR images were reviewed by two radiologists and interpreted by consensus for the presence of articular cartilage lesions (including Hill-Sachs and Bankart lesions), which were then confirmed by reviewing the operative report and images recorded at arthroscopy. Mean patient age was 27.0 ± 10.2 years with a mean clinical and radiographic follow-up of 29 (range 3-72) months. Cartilage injuries were detected arthroscopically in 55 patients (63%). Bankart and Hill-Sachs lesions were identified arthroscopically in 66 patients (75.9%) and 55 patients (63.2%) respectively. The overall sensitivity and specificity for detection of glenohumeral articular cartilage lesions by MRI were 87.2% and 80.6% respectively. The sensitivity and specificity of MRI in detecting Bankart lesions was 98.4% (95% CI 91.9, 99.7) and 95.2% (95% CI 77.3, 99.2) respectively. The sensitivity and specificity of MRI in detecting Hill-Sachs lesions was 96.3% (95% CI 87.6, 98.9%) and 90.6% (95% CI 75.7, 96.9) respectively. No statistically significant difference was found between MRI examinations with and without intra-articular gadolinium (p = 0.89). Magnetic resonance imaging demonstrates high sensitivity and specificity for the diagnosis of articular cartilage injuries in patients with glenohumeral instability. MRI with or without intra-articular contrast medium in this study were equally reliable as a non

Efficacy of diagnostic magnetic resonance imaging for articular cartilage lesions of the glenohumeral joint in patients with instability

Energy Technology Data Exchange (ETDEWEB)

Hayes, Meredith L.; Collins, Mark S.; Wenger, Doris E. [Mayo Clinic, Department of Radiology, Rochester, MN (United States); Morgan, Joseph A.; Dahm, Diane L. [Mayo Clinic, Department of Orthopaedic Surgery, Rochester, MN (United States)

2010-12-15

The purpose of this study was primarily to assess the diagnostic performance of magnetic resonance imaging (MRI) in detecting articular cartilage injuries in patients with glenohumeral instability. A secondary purpose was to assess the diagnostic performance of MRI for detection of Hill-Sachs and Bankart lesions. A cohort of 87 consecutive patients who underwent diagnostic MRI and shoulder arthroscopy for instability from 1997 to 2006 were identified. Fifty-five patients (63.2%) underwent MRI with intra-articular contrast medium and 32 patients (36.8%) underwent MRI without contrast medium. MR images were reviewed by two radiologists and interpreted by consensus for the presence of articular cartilage lesions (including Hill-Sachs and Bankart lesions), which were then confirmed by reviewing the operative report and images recorded at arthroscopy. Mean patient age was 27.0 {+-} 10.2 years with a mean clinical and radiographic follow-up of 29 (range 3-72) months. Cartilage injuries were detected arthroscopically in 55 patients (63%). Bankart and Hill-Sachs lesions were identified arthroscopically in 66 patients (75.9%) and 55 patients (63.2%) respectively. The overall sensitivity and specificity for detection of glenohumeral articular cartilage lesions by MRI were 87.2% and 80.6% respectively. The sensitivity and specificity of MRI in detecting Bankart lesions was 98.4% (95% CI 91.9, 99.7) and 95.2% (95% CI 77.3, 99.2) respectively. The sensitivity and specificity of MRI in detecting Hill-Sachs lesions was 96.3% (95% CI 87.6, 98.9%) and 90.6% (95% CI 75.7, 96.9) respectively. No statistically significant difference was found between MRI examinations with and without intra-articular gadolinium (p = 0.89). Magnetic resonance imaging demonstrates high sensitivity and specificity for the diagnosis of articular cartilage injuries in patients with glenohumeral instability. MRI with or without intra-articular contrast medium in this study were equally reliable as a non

University Autonomy in the Context of University-Society, State and Market/Capital Relations

Directory of Open Access Journals (Sweden)

Dicle ÖZCAN

2016-05-01

Full Text Available This study focuses on how the concept university autonomy which constitutes one of the most tangible indicators of academic freedom is positioned in the context of university's relations with state, society and market and concentrates on the possibility of university autonomy. From the emergence of universities in the Middle Age to the modern universities of the present, the concepts of university autonomy and academic freedom have been maintaining their actuality with a growing interest. In the light of studies in Turkey, the purpose of this study is to discuss the change of university autonomy in the historical process and where it can be positioned in the context of building blocks of university autonomy concept and the recent relationship between universities and market-industry-business world.

Motivating University Researchers

NARCIS (Netherlands)

Hendriks, P.H.J.; Alves de Sousa, C.A.

2008-01-01

This paper presents an empirical investigation into how universities approach the need and means for motivating university researchers through their management practices. The role of work motivation for this group deserves attention because pressures from outside and within the universities are said

Georgetown University and Hampton University Prostate Cancer Undergraduate Fellowship Program

Science.gov (United States)

2018-01-01

goals. The first goal was to integrate upper level undergraduate students from Hampton University into the Georgetown Lombardi Comprehensive Cancer...upper level undergraduate Biology and Biochemistry Majors from Hampton University to work throughout the summer participating in prostate cancer...Dominican Republic summer 2017 Marissa Willis HU-GU Fellow Summer 2016 (Notario lab) Biology Major Hampton University, class of 2018, Math and

Collaboration Between Universities: An effective way of sustaining community-university partnerships?

Directory of Open Access Journals (Sweden)

Jonathan Pratt

2011-11-01

Full Text Available This article highlights some of the opportunities and challenges that collaboration between higher education institutions (HEIs can bring to the development of sustainable community-university partnerships. In particular, it explores the potential for universities to collaborate on building effective engagement mechanisms (such as helpdesks, ‘hub and spoke’ contact models, and research groups to review ideas for activities that will support an ongoing flow of new projects and partnerships over time. It draws on evidence gathered from the evaluation and coordination of the South East Coastal Communities (SECC program, an almost unique experiment in collaboration between English universities. In an ‘age of austerity’, opportunities to reduce costs without damaging core services are of particular interest to public funding bodies. The article suggests that collaboration between universities may be an efficient and effective way of engaging with local communities, but that it is not cost-free, and high-level strategic buy-in within HEIs is required if community-university partnerships are to thrive in the current higher education funding environment. The article also suggests that there may be a geographic dimension to effective collaboration between universities in both community-university partnership work and the mechanisms that support community engagement. Inter-university collaboration across the whole region covered by the SECC program has been much weaker than collaboration at a subregional level and within ‘city-regions’ in particular. This raises a key question: does the natural geography for effective collaboration between universities need to reflect, at least in part, the geographies of communities themselves, in terms of lived experiences and/or community representation? Such a debate has interesting and timely parallels in the United Kingdom, where the new coalition government is bringing about a fundamental shift in the

Intelligent Universe

Energy Technology Data Exchange (ETDEWEB)

Hoyle, F

1983-01-01

The subject is covered in chapters, entitled: chance and the universe (synthesis of proteins; the primordial soup); the gospel according to Darwin (discussion of Darwin theory of evolution); life did not originate on earth (fossils from space; life in space); the interstellar connection (living dust between the stars; bacteria in space falling to the earth; interplanetary dust); evolution by cosmic control (microorganisms; genetics); why aren't the others here (a cosmic origin of life); after the big bang (big bang and steady state); the information rich universe; what is intelligence up to; the intelligent universe.

Hypotonia

Science.gov (United States)

... damage include: Down syndrome Spinal muscular atrophy Prader-Willi syndrome Tay-Sachs disease Trisomy 13 Other disorders ... commercial use must be authorized in writing by ADAM Health Solutions. About MedlinePlus Site Map FAQs Customer ...

antimycobacterial and cytotoxicity evaluation of the constituents of ...

African Journals Online (AJOL)

nb

AKT/mTOR pathway and S phase cell cycle arrest in HepG2 cells. Food. Chem. 138: 1034-1041. Chen T, He J, Zhang J, Li X, Zhang H, Hao. J, Li L 2012 The isolation and identification of two compounds with predominant radical scavenging activity in hempseed (seed of Cannabis sativa. L.). Food Chem. 134: 1030-1037.

Anti-inflammatory Effects of Magnolia sieboldii Extract in ...

African Journals Online (AJOL)

Hao Li4 and Kang-Duk Choi1*. 1Genomic ... Methods: The whole plant of M. sieboldii was extracted with methanol at room temperature. The in vitro ... action of M. sieboldii in inflammation. Magnolia ..... Shih HC, Hwang TL, Chen HC, Kuo PC, Lee EJ, Lee. KH, Wu TS. ... Fu JY, Masferrer JL, Seibert K, Raz A, Needleman P.

Our Particle Universe

Indian Academy of Sciences (India)

and “why is the universe the way it is?” Not long before ... to each other. The interactions of particles in the universe ... theory by Jean Perrin in 1908 convinced people that atoms and ..... ing the origin and evolution of our universe13. This is an ...

The rotating universe

International Nuclear Information System (INIS)

Ruben, G.; Treder, H.J.

1987-01-01

For a long time the question whether the universe rotates or not is discussed. Aspects of Huygens, Newton, Mach and other important historical scientists in this field are reported. The investigations of the mathematician Kurt Groedel in order to prove the rotation of the universe are illustrated. Kurt Groedel has shown that Einstein's gravitational equations of general relativity theory and the cosmological postulate of global homogeneity of cosmic matter (that is the Copernical principle) are not contradictionary to a rotating universe. Abberation measurements, position determination by means of radiointerferometry and methods for the determination of the rotation of the universe from the isotropy of the background radiation are presented. From these experiments it can be concluded that the universe seems not to rotate as already Einstein expected

CHINA‘S RADIO AND TV UNIVERSITIES AND THE BRITISH OPEN UNIVERSITY: A Comparative Study

Directory of Open Access Journals (Sweden)

Reviewed by Desmond KEEGAN

2010-01-01

Full Text Available This book is a major contribution to the fields of distance education research, the field of comparative education and to the history of Chinese and British education.The book undertakes an impossible task: the comparative study of China‘s Radio and TV universities and of the British Open University. The task is impossible because the two entities to be compared are essentially disparate. The British Open University (OUUK is a single university set up at Milton Keynes in the United Kingdom by Royal Charter. China‘s Radio and TV universities, known as the Dianda system, is a network of 45 open universities set up all over China. The essence of the success of the British Open University was its creation as a full university, offering its own university degrees on the same level as all the other universities in the country. The Dianda institutions were set up in what Wei calls the ‗adult higher education sector‘ in China, offering what Wei calls sub-degrees and always regarded as inferior both to the great Chinese universities (Beijing University, Qinghua University, Fudan

Mathematics at University

DEFF Research Database (Denmark)

Winsløw, Carl

2015-01-01

Mathematics is studied in universities by a large number of students. At the same time it is a field of research for a (smaller) number of university teachers. What relations, if any, exist between university research and teaching of mathematics? Can research “support” teaching? What research...... and what teaching? In this presentation we propose a theoretical framework to study these questions more precisely, based on the anthropological theory of didactics. As a main application, the links between the practices of mathematical research and university mathematics teaching are examined...

(Re)Discovering University Autonomy

DEFF Research Database (Denmark)

This book challenges traditional approach to university autonomy which is based on four pillars: organisational, financial, human resource, and academic. The main thesis is that a fuller understanding of university autonomy can only be obtained through a more holistic view of the complex inter......-relationships between stakeholders and policies which can reinforce and equally pull in opposite directions. The holistic view is expressed in a model of institutional university autonomy that brings together the traditional basic four pillars of autonomy, and five interfaces: government–university; university......–university staff; academic staff–students; university–business; and university–internationalisation. This model is explored through international case studies that give new insights and reinforce our understanding that the issues relating to institutional university autonomy are complex, interactive and genuinely...

Kogu maailma hõlmav supertsükkel / Fredy-Edwin Esse

Index Scriptorium Estoniae

Esse, Fredy-Edwin

2011-01-01

Goldman Sachs Groupi, Pricewaterhouse Coopersi ja London's Standard Chartered Banki makroökonomistid ennustavad majanduskasvu saabumist järgmistel aastakümnetel. Standard Charteredi peaökonomist Gerard Lyons prognoosib majanduse n.-ö. supertsüklit

Kyoto University-National Taiwan University International Symposium "Social Cognitive Biology on Representation of Environment

OpenAIRE

Saiki, Jun

2016-01-01

Sponsored by Kyoto University, National Taiwan University; Cosponsored by Unit for Advanced Studies of the Human Mind, Kyoto University, Kokoro Research Center, Kyoto University, Supported by Supporting Program for InteRaction-based Initiative Team Studies (SPIRITS), Kyoto University

Plasma universe

International Nuclear Information System (INIS)

Alfven, H.

1986-04-01

Traditionally the views in our cosmic environment have been based on observations in the visual octave of the electromagnetic spectrum, during the last half-century supplemented by infrared and radio observations. Space research has opened the full spectrum. Of special importance are the X-ray-gamma-ray regions, in which a number of unexpected phenomena have been discovered. Radiations in these regions are likely to originate mainly from magnetised cosmic plasma. Such a medium may also emit synchrotron radiation which is observable in the radio region. If we try to base a model of the universe on the plasma phenomena mentioned we find that the plasma universe is drastically different from the traditional visual universe. Information about the plasma universe can also be obtained by extrapolation of laboratory experiments and magnetospheric in situ measurements of plasma. This approach is possible because it is likely that the basic properties of plasma are the same everywhere. In order to test the usefulness of the plasma universe model we apply it to cosmogony. Such an approach seems to be rather successful. For example, the complicated structure of the Saturnian C ring can be accounted for. It is possible to reconstruct certain phenomena 4-5 bilions years ago with an accuracy of better than 1 percent

Analysis of Job Satisfaction of University Professors from Nine Chinese Universities

Science.gov (United States)

Du, Ping; Lai, Manhong; Lo, Leslie N. K.

2010-01-01

Research on work life and job satisfaction of university professors is becoming an important research issue in the field of higher education. This study used questionnaires administered to 1 770 teachers from different levels, types, and academic fields of Chinese universities to investigate job satisfaction among university professors and the…

Study of the Effect of Brand Equity Drivers on University Brand Resonance (Case Study:Amir Kabir university, Sharif university, Tarbiat Modares university, Tehran university)

OpenAIRE

mojtaba karimian; Hamid khodadad hosseini; Asqar moshabaki

2015-01-01

Branding in business of institutions of higher education is one of the issues that recently have been attracted by many researchers and therefore administrators must conduct in depth studies and take effective steps in order to devise a brand strategy so that they can make a strong brand for universities. Thus, this article investigated the quality of branding and presented suggestions to improve the brand resonance of university. The main objective of the study is to show that how brand reso...

The University Culture

Science.gov (United States)

Simplicio, Joseph

2012-01-01

In this article the author discusses the role university culture can play on a campus and how it can impact policy and practice. The article explores how a university's history, values, and vision form its culture and how this culture in turn affects its stability and continuity. The article discusses how newcomers within the university are…

The Global University Press

Science.gov (United States)

Dougherty, Peter J.

2012-01-01

The modern world's understanding of American university press has long been shaped by university-press books. American university-press books are good international advertisements for the universities whose logos grace their spines. The growth of transnational scholarship and the expansion of digital communications networks are converging in ways…

Performance Related Pay in Australian Universities: The Case of Swinburne University

Science.gov (United States)

Harkness, Peter; Schier, Mark

2011-01-01

Performance related pay is not common in Australian universities. A number of Australian universities have begun to show interest in implementing more individualised pay arrangements. Swinburne University of Technology, in Melbourne, has chosen, contrary to the wishes of many of its staff, to be a path-breaker and has introduced a performance…

University Social Responsibility and Brand Image of Private Universities in Bangkok

Science.gov (United States)

Plungpongpan, Jirawan; Tiangsoongnern, Leela; Speece, Mark

2016-01-01

Purpose: The purpose of this paper is to examine the effects of university social responsibility (USR) on the brand image of private universities in Thailand. Brand image is important for entry into the consideration set as prospective students evaluate options for university study. USR activities may be implicit or explicit, i.e., actively…

The holographic universe

CERN Document Server

Talbot, Michael

1991-01-01

'There is evidence to suggest that our world and everything in it - from snowflakes to maple trees to falling stars and spinning electrons - are only ghostly images, projections from a level of reality literally beyond both space and time.' This is the astonishing idea behind the holographic theory of the universe, pioneered by two eminent thinkers: physicist David Bohm, a former protege of Albert Einstein, and quantum physicist Karl Pribram. The holographic theory of the universe encompasses consciousness and reality as we know them, but can also explain such hitherto unexplained phenomena as telepathy, out-of-body experiences and even miraculous healing. In this remarkable book, Michael Talbot reveals the extraordinary depth and power of the holographic theory of the universe, illustrating how it makes sense of the entire range of experiences within our universe - and in other universes beyond our own.

The Transformation of Traditional Universities into Entrepreneurial Universities to Ensure Sustainable Higher Education

Science.gov (United States)

Bikse, Veronika; Lusena-Ezera, Inese; Rivza, Baiba; Volkova, Tatjana

2016-01-01

This paper aims to investigate the experience and to identify the drivers of transforming traditional universities into Entrepreneurial Universities for ensuring sustainable higher education in Latvia. Due to the wide scope, Entrepreneurial University characteristics, the present research study is limited and focuses on the university providing…

General Topology of the Universe

OpenAIRE

Pandya, Aalok

2002-01-01

General topology of the universe is descibed. It is concluded that topology of the present universe is greater or stronger than the topology of the universe in the past and topology of the future universe will be stronger or greater than the present topology of the universe. Consequently, the universe remains unbounded.

Building Effective Community-University Partnerships: Are Universities Truly Ready?

Science.gov (United States)

Curwood, Susan Eckerle; Munger, Felix; Mitchell, Terry; Mackeigan, Mary; Farrar, Ashley

2011-01-01

Community service learning and community-based research necessitate the development of strong community-university partnerships. In this paper, students, faculty, and a community partner critically reflect upon the process of establishing a long-term community-university partnership through the integration of a community service learning component…

Three-dimensional structure of heat shock protein 90 from ...

Indian Academy of Sciences (India)

Madhu Sudhan

2007-04-02

Apr 2, 2007 ... inhibitory effects on development of malarial parasite in human erythrocytes. To gain better ... binding as well as inter-subunit interactions. Important ..... Sachs J and Malaney P 2002 The economic and social burden of malaria ...

Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders

Directory of Open Access Journals (Sweden)

Heba S. Abd-Elkhalek

2016-07-01

In this case report, we present the challenges that we met in diagnosis and counseling of a family with both Tay–Sachs and maple syrup urine disease depending mainly on history, clinical data and a few diagnostic investigations.

Universities scale like cities.

Directory of Open Access Journals (Sweden)

Anthony F J van Raan

Full Text Available Recent studies of urban scaling show that important socioeconomic city characteristics such as wealth and innovation capacity exhibit a nonlinear, particularly a power law scaling with population size. These nonlinear effects are common to all cities, with similar power law exponents. These findings mean that the larger the city, the more disproportionally they are places of wealth and innovation. Local properties of cities cause a deviation from the expected behavior as predicted by the power law scaling. In this paper we demonstrate that universities show a similar behavior as cities in the distribution of the 'gross university income' in terms of total number of citations over 'size' in terms of total number of publications. Moreover, the power law exponents for university scaling are comparable to those for urban scaling. We find that deviations from the expected behavior can indeed be explained by specific local properties of universities, particularly the field-specific composition of a university, and its quality in terms of field-normalized citation impact. By studying both the set of the 500 largest universities worldwide and a specific subset of these 500 universities--the top-100 European universities--we are also able to distinguish between properties of universities with as well as without selection of one specific local property, the quality of a university in terms of its average field-normalized citation impact. It also reveals an interesting observation concerning the working of a crucial property in networked systems, preferential attachment.

Universities scale like cities.

Science.gov (United States)

van Raan, Anthony F J

2013-01-01

Recent studies of urban scaling show that important socioeconomic city characteristics such as wealth and innovation capacity exhibit a nonlinear, particularly a power law scaling with population size. These nonlinear effects are common to all cities, with similar power law exponents. These findings mean that the larger the city, the more disproportionally they are places of wealth and innovation. Local properties of cities cause a deviation from the expected behavior as predicted by the power law scaling. In this paper we demonstrate that universities show a similar behavior as cities in the distribution of the 'gross university income' in terms of total number of citations over 'size' in terms of total number of publications. Moreover, the power law exponents for university scaling are comparable to those for urban scaling. We find that deviations from the expected behavior can indeed be explained by specific local properties of universities, particularly the field-specific composition of a university, and its quality in terms of field-normalized citation impact. By studying both the set of the 500 largest universities worldwide and a specific subset of these 500 universities--the top-100 European universities--we are also able to distinguish between properties of universities with as well as without selection of one specific local property, the quality of a university in terms of its average field-normalized citation impact. It also reveals an interesting observation concerning the working of a crucial property in networked systems, preferential attachment.

The early universe

International Nuclear Information System (INIS)

Steigman, G.

1989-01-01

The author discusses the physics of the early universe: the production and survival of relics from the big bang. The author comments on relic WIMPs as the dark matter in the universe. The remainder of this discussion is devoted to a review of the status of the only predictions from the early evolution of the universe that are accessible to astronomical observation: primordial nucleosynthesis

Surpluses and Deficits: How University Partners Perceive University-Community Partnerships at One Ivy League Institution

Directory of Open Access Journals (Sweden)

Alison Klebanoff Cohen

2012-07-01

Full Text Available University-community partnerships are a critical method for how universities can serve the public interest.  Yet key questions remain: how do these partnerships work in practice, and how can university and fill reciprocal and mutual needs effectively?  A participatory evaluation of university-community partnerships in education at an Ivy League university found that university partners had a surplus perspective of the university and a deficit perspective of community partners; practitioners must shift our paradigm towards mutually beneficial, asset-driven university-community partnerships to ensure success.

Seeded hot dark matter models with inflation

Science.gov (United States)

Gratsias, John; Scherrer, Robert J.; Steigman, Gary; Villumsen, Jens V.

1993-01-01

We examine massive neutrino (hot dark matter) models for large-scale structure in which the density perturbations are produced by randomly distributed relic seeds and by inflation. Power spectra, streaming velocities, and the Sachs-Wolfe quadrupole fluctuation are derived for this model. We find that the pure seeded hot dark matter model without inflation produces Sachs-Wolfe fluctuations far smaller than those seen by COBE. With the addition of inflationary perturbations, fluctuations consistent with COBE can be produced. The COBE results set the normalization of the inflationary component, which determines the large-scale (about 50/h Mpc) streaming velocities. The normalization of the seed power spectrum is a free parameter, which can be adjusted to obtain the desired fluctuations on small scales. The power spectra produced are very similar to those seen in mixed hot and cold dark matter models.

Martin Winckler.

Science.gov (United States)

Winckler, Martin

2004-03-27

Martin Winckler, born Marc Zaffran in 1955, is a French family doctor, a writer, a translator, and a cultural critic. Since the publication of La Vacation (Paris: POL, 1989), a novel based on his experience in an abortion clinic, he has published more than 20 books (fiction and non-fiction), including a user's manual of contraceptive devices (Contraceptions mode d'emploi. Vauvert: Le Diable Vauvert, 2003). His novel La maladie de Sachs has been translated into English as The Case of Dr Sachs (New York: Seven Stories Press, 2000). Winckler was recently a guest speaker at the Joint Meeting of the American Society of Bioethics and Humanities and the Canadian Society of Bioethics in Montreal, Canada. He will be a guest speaker at the Royal College of General Practitioners' Spring Symposium, in April this year in Bournemouth, UK.

Characterisation of polycrystal deformation by numerical modelling and neutron diffraction measurements

DEFF Research Database (Denmark)

Clausen, Bjørn

of calculated and measured lattice strains are made for three different materials; alu-minium, copper and austenitic stainless steel. The predictions of the self-consistent model is more accurate and detailed than the predictions of the Taylor and Sachs models, though some discrepancies are noted for some...... to the Sachs model. The influence of the elastic anisotropy is investigated by comparing the self-consistent predictions for aluminium, copper and a hypothetical material (hybrid) with the elastic anisotropy of copper and the Young’s modulus and work hardening behaviour of aluminium. It is concluded......, that the effect of the elastic anisotropy is limited to the very early stages of plasticity (εP materials at higher strains. The predictions of the three models are evaluated by neutron diffraction mea-surements of elastic lattice strains...

Rectors of European universities

CERN Multimedia

Maximilien Brice

2003-01-01

Several rectors of European universities visited CERN recently while in Geneva for a conference on coordination between their institutions. The visit began with a welcome by Roger Cashmore, CERN Director of Collider Programmes,and continued with tours of CMS, ALICE and the LHC magnet assembly hall. Photos 01, 02: The visitors in the ALICE assembly hall: (left to right) Dr. Raymond Werlen, Deputy Secretary-General of the Conference of Rectors of Swiss Universities; visit guide Prof. Alain Blondel, Department of Nuclear and Corpuscular Physics, University of Geneva; Prof. Adriano Pimpão, Rector of the University of Algarve, President of the Council of Rectors of Portuguese Universities; Prof. Jean-Pierre Finance, Conference of University Presidents, France; Prof. Jean-Paul Lehners, Vice-President of the Centre Universitaire, Luxemburg.

Universities Cooperate in Online Teaching. The Experience of the Bavarian Virtual University

Directory of Open Access Journals (Sweden)

Paul RÜHL

2010-01-01

Full Text Available The Bavarian Virtual University (BVU is an institute set up by the universities and universities of Applied Sciences of the Free State of Bavaria, one of the 16 German Länder. The BVU is supported by the Bavarian Ministry of Higher Education. At present, there are more than 60,000 course enrolments by more than 25,000 Bavarian students per academic year. The BVU provides online-courses with an equivalent of two to six credit points (by ECTS standards which the member universities, all of them traditional brick-and-mortar universities, can integrate into their courses of study. Students of the member universities can attend the courses free of charge. The BVU offers neither complete courses of study nor degrees of its own. The basic and most important principles of the BVU are: Blended learning at the macro level of the course of study, not at the micro-level of the single course, priority given to asynchronous forms of communication; offering courses which are completely online, thus facilitating the import and export of online-courses between all 31 member universities and allowing a maximum of flexibility to the students. The BVU finances the developing as well as the conducting of its courses. This supports teachers in providing tuition to students from other universities.

How much we know about university internationalization and university autonomy

DEFF Research Database (Denmark)

Turcan, Romeo V.; Gullieva, Valeria

2013-01-01

in their mission statements and strategic plans. Conventional wisdom suggests that universities should adapt their strategies, resources, and structures and organizations to international environments. However, recent examples of university internationalization failures and withdrawals from international markets...

University Pedagogy for Assistant Professors at Aalborg University (Part 1)

DEFF Research Database (Denmark)

Kolmos, Anette; Krogh, Lone

2003-01-01

The article describes a course for assistant professors within the University Teacher Education at Aalborg University. The course focus is to develop knowledge, skills and methods from within the didactic, pedagogical, and learning theory-based fields....

The Cooperation between Savonia University of Applied Sciences and West Anhui University

OpenAIRE

Tang, Guangjing; Xie, Jiajuan

2016-01-01

The aim of this thesis was to find out how to renew the double degree of Savonia University of Ap-plied Sciences and West Anhui University and listed some advantages and disadvantages of a cooperation project. Also the relevant responsible people were interviewed to get the reasons for the termination of this cooperation. The two universities signed the agreement of university cooperation projects in 2005 and the first group students went to Savonia in 2008. The contents of cooperation were a...

Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders

Science.gov (United States)

2017-11-15

Hurler Syndrome (MPS I); Hurler-Scheie Syndrome; Hunter Syndrome (MPS II); Sanfilippo Syndrome (MPS III); Krabbe Disease (Globoid Leukodystrophy); Metachromatic Leukodystrophy (MLD); Adrenoleukodystrophy (ALD and AMN); Sandhoff Disease; Tay Sachs Disease; Pelizaeus Merzbacher (PMD); Niemann-Pick Disease; Alpha-mannosidosis

perceived impact of malaria on the productivity of rice farmers in ini ...

African Journals Online (AJOL)

Asa Ubong

and Cancer. Although figures ... thus resulting in a negative impact on food security throughout. Africa. ... Sachs and Gallup (1998), malaria causes poverty, and is not just a result of ..... water and burnt scent leaves respectively as a measure of.

The isotropic Universe

International Nuclear Information System (INIS)

Raine, D.J.

1981-01-01

This introduction to contemporary ideas in cosmology differs from other books on the 'expanding Universe' in its emphasis on physical cosmology and on the physical basis of the general theory of relativity. It is considered that the remarkable degree of isotropy, rather than the expansion, can be regarded as the central observational feature of the Universe. The various theories and ideas in 'big-bang' cosmology are discussed, providing an insight into current problems. Chapter headings are: quality of matter; expanding Universe; quality of radiation; quantity of matter; general theory of relativity; cosmological models; cosmological tests; matter and radiation; limits of isotropy; why is the Universe isotropic; singularities; evolution of structure. (U.K.)

How academic entrepreneurship meets the university: university spin-offs in stakeholder networks

NARCIS (Netherlands)

Rasmussen, Einar; Benneworth, Paul Stephen; Gulbrandsen, Magnus

2015-01-01

Some universities and departments have been very successful in stimulating university spin-off firms (USOs). It remains an open question whether this is due to unique abilities and circumstances or if it can be stimulated at many universities. This paper seeks to discuss this question by integrating

The universe a biography

CERN Document Server

Gribbin, John

2008-01-01

The Universe: A Biography makes cosmology accessible to everyone. John Gribbin navigates the latest frontiers of scientific discovery to tell us what we really know about the history of the universe. Along the way, he describes how the universe began; what the early universe looked like; how its structure developed; and what emerged to hold it all together. He describes where the elements came from; how stars and galaxies formed; and the story of how life emerged. He even looks to the future: is the history of the universe going to end with a Big Crunch or a Big Rip.

Enlistment Propensities of University Students

National Research Council Canada - National Science Library

Moskos, Charles

2004-01-01

Enlistment propensities of undergraduates were assessed through surveys conducted at Northwestern University, University of Arizona, University of California-Los Angeles, and University of Illinois-Chicago...

The three-point correlation function of the cosmic microwave background in inflationary models

CERN Document Server

Gangui, Alejandro; Matarrese, Sabino; Mollerach, Silvia

1994-01-01

We analyze the temperature three-point correlation function and the skewness of the Cosmic Microwave Background (CMB), providing general relations in terms of multipole coefficients. We then focus on applications to large angular scale anisotropies, such as those measured by the {\\em COBE} DMR, calculating the contribution to these quantities from primordial, inflation generated, scalar perturbations, via the Sachs--Wolfe effect. Using the techniques of stochastic inflation we are able to provide a {\\it universal} expression for the ensemble averaged three-point function and for the corresponding skewness, which accounts for all primordial second-order effects. These general expressions would moreover apply to any situation where the bispectrum of the primordial gravitational potential has a {\\em hierarchical} form. Our results are then specialized to a number of relevant models: power-law inflation driven by an exponential potential, chaotic inflation with a quartic and quadratic potential and a particular c...

Cross-correlation of the cosmic microwave background with the 2MASS galaxy survey: Signatures of dark energy, hot gas, and point sources

International Nuclear Information System (INIS)

Afshordi, Niayesh; Loh, Yeong-Shang; Strauss, Michael A.

2004-01-01

We cross-correlate the cosmic microwave background temperature anisotropies observed by the Wilkinson Microwave Anisotropy Probe (WMAP) with the projected distribution of extended sources in the Two Micron All Sky Survey (2MASS). By modeling the theoretical expectation for this signal, we extract the signatures of dark energy [integrated Sachs-Wolfe effect (ISW)], hot gas [thermal Sunyaev-Zeldovich (SZ) effect], and microwave point sources in the cross-correlation. Our strongest signal is the thermal SZ, at the 3.1-3.7σ level, which is consistent with the theoretical prediction based on observations of x-ray clusters. We also see the ISW signal at the 2.5σ level, which is consistent with the expected value for the concordance ΛCDM cosmology, and is an independent signature of the presence of dark energy in the Universe. Finally, we see the signature of microwave point sources at the 2.7σ level

Construction of the irreducibles of B(2, 2)

International Nuclear Information System (INIS)

Melas, Evangelos

2006-01-01

The ordinary Bondi-Metzner-Sachs (BMS) group B is the common asymptotic symmetry group of all radiating, asymptotically flat, Lorentzian spacetimes. As such, B is the best candidate for the universal symmetry group of general relativity. However, in studying quantum gravity, spacetimes with signatures other than the usual Lorentzian one and complex spacetimes are frequently considered. Generalizations of B appropriate to these other signatures have been defined earlier. In particular, the generalization B(2, 2) appropriate to the ultrahyperbolic signature (+, +, -, -) has been described in detail, and the study of its irreducible unitary representations (IRs) of B(2, 2) has been initiated. The infinite little groups have been given explicitly, but the finite little groups have only been partially described. This study is completed by describing in detail the finite little groups and by giving all the necessary information in order to construct the IRs of B(2, 2) in all cases

Generalizations of the BMS group and results

International Nuclear Information System (INIS)

Melas, E

2006-01-01

The ordinary Bondi-Metzner-Sachs (BMS) group B is the common asymptotic symmetry group of all radiating, asymptotically flat, Lorentzian space-times. As such, B is the best candidate for the universal symmetry group of General Relativity. However, in studying quantum gravity, space-times with signatures other than the usual Lorentzian one, and complex space-times, are frequently considered. Generalisations of B appropriate to these other signatures have been defined earlier. In particular, the generalization B(2, 2) appropriate to the ultrahyperbolic signature (+, +, -, -) has been described in detail, and the study of its irreducible unitary representations (IRs) has been initiated. The infinite little groups of B(2, 2) have been given explicitly but its finite little groups have only been partially described. All the information needed in order to construct the finite little groups is given. Possible connections with gravitational instantons are being put forward

University Program Management Information System: NASA's University Program Active Projects

Science.gov (United States)

Gans, Gary (Technical Monitor)

2003-01-01

As basic policy, NASA believes that colleges and universities should be encouraged to participate in the nation's space and aeronautics program to the maximum extent practicable. Indeed, universities are considered as partners with government and industry in the nation's aerospace program. NASA's objective is to have them bring their scientific, engineering, and social research competence to bear on aerospace problems and on the broader social, economic, and international implications of NASA's technical and scientific programs. It is expected that, in so doing, universities will strengthen both their research and their educational capabilities to contribute more effectively to the national well being. This annual report is one means of documenting the NASA-university relationship, frequently denoted, collectively, as NASA's University Program. This report is consistent with agency accounting records, as the data is obtained from NASA's Financial and Contractual Status (FACS) System, operated by the Financial Management Division and the Procurement Office. However, in accordance with interagency agreements, the orientation differs from that required for financial or procurement purposes. Any apparent discrepancies between this report and other NASA procurement or financial reports stem from the selection criteria for the data. This report was prepared by the Office of Education/N.

From Eminent Men to Excellent Universities: University Rankings as Calculative Devices.

Science.gov (United States)

Hammarfelt, Björn; de Rijcke, Sarah; Wouters, Paul

2017-01-01

Global university rankings have become increasingly important 'calculative devices' for assessing the 'quality' of higher education and research. Their ability to make characteristics of universities 'calculable' is here exemplified by the first proper university ranking ever, produced as early as 1910 by the American psychologist James McKeen Cattell. Our paper links the epistemological rationales behind the construction of this ranking to the sociopolitical context in which Cattell operated: an era in which psychology became institutionalized against the backdrop of the eugenics movement, and in which statistics of science became used to counter a perceived decline in 'great men.' Over time, however, the 'eminent man,' shaped foremost by heredity and upbringing, came to be replaced by the excellent university as the emblematic symbol of scientific and intellectual strength. We also show that Cattell's ranking was generative of new forms of the social, traces of which can still be found today in the enactment of 'excellence' in global university rankings.

The Universe of Fluctuations The Architecture of Spacetime and the Universe

CERN Document Server

Sidharth, B G

2005-01-01

The Universe of Fluctuations: The Architecture of Spacetime and the Universe is a path-breaking work which proposes solutions to the impasse and crisis facing fundamental physics and cosmology. It describes a cosmological model based on fuzzy spacetime that has correctly predicted a dark-energy-driven acceleration of our expanding universe - with a small cosmological constant - at a time when the popular belief was quite the contrary. It describes how the Universe is made up of an underpinning of Planck oscillators in a Quantum Vacuum. This leads to, amongst other things, a characterization of gravitation as being distributional over the entire Universe, thereby providing an answer to a puzzle brought to light by Weinberg years ago and since overlooked. There is also a simple formula for the mass spectrum of all known elementary particles, based on QCD dynamics. Many other interesting ramifications and experimental tests for the future are also discussed. This apart, there is a brief survey of some of the exi...

Inflation in the Universe

International Nuclear Information System (INIS)

Barrow, J.D.; California Univ., Berkeley; Turner, M.S.; Chicago Univ., IL

1981-01-01

The problems of explaining the observed isotropy, homogeneity, flatness and specific entropy of the Universe are discussed in the context of an inflationary Universe which has recently been suggested. It is shown that the isotropy cannot be ignored as a Universe with a large amount of anisotropy will not undergo the inflationary phase. A Universe with only moderate anistropy will undergo inflation and will be rapidly isotropized. (U.K.)

Peculiarities of the early Universe (Universes) birth and positron annihilation

International Nuclear Information System (INIS)

Svetlov-Prokop'ev, E.P.

2003-01-01

Works on the problem of quantum birth of the Universe are reviewed. Possible peculiarities of electron-positron annihilation at the early stages of the Universe (s) birth in connection with black holes are considered. Possible concept of Eternity is discussed. (author)

Planck 2013 results. XII. Diffuse component separation

DEFF Research Database (Denmark)

Ade, P. A. R.; Aghanim, N.; Armitage-Caplan, C.

2014-01-01

of primordial non-Gaussianity and statistical isotropy, the integrated Sachs-Wolfe effect, gravitational lensing, and searches for topological defects. We test four foreground-cleaned CMB maps derived using qualitatively different component separation algorithms. The quality of our reconstructions is evaluated...

Gambling with the Universe

Science.gov (United States)

Hawking, Stephen

2002-05-01

This is an excerpt from Stephen Hawking's book The Universe in a Nutshell. Roger Penrose and Stephen Hawking, Lucasian Professor of Mathematics at the University of Cambridge, were able to show that Einstein's General Theory of Relativity implied that the universe and time itself must have had a beginning in a tremendous explosion. The discovery of the expansion of the universe is one of the great intellectual revolutions of the twentieth century.

Universities as Development Hubs

DEFF Research Database (Denmark)

Hansen, Jens Aage; Lindegaard, Klaus; Lehmann, Martin

2005-01-01

Capacity-building in environment and development has been implemented and tested over the last decade through university and university consortia networking. Universities from Africa (Botswana and South Africa), Asia (Malaysia and Thailand), Central America (Costa Rica, El Salvador and Nicaragua...

Politics, Markets, and University Costs: Financing Universities in the Current Era

OpenAIRE

Geiger, Roger L.

2000-01-01

The purpose of this study is to determine the factors shaping the financing of the principal universities of the United States, and to explore the consequences for institutions and for students. Revenues are the lifeblood of these or any other universities. The level of resources that universities command from society determines the level and scope of their activities, and who provides these resources greatly affects their behavior. Moreover, where resources are concerned, both inequality and...

Resultados do procedimento artroscópico de "remplissage" na luxação anterior recidivante do ombro Results from filling "remplissage" arthroscopic technique for recurrent anterior shoulder dislocation

Directory of Open Access Journals (Sweden)

Mauro Emilio Conforto Gracitelli

2011-01-01

Full Text Available OBJETIVO: Avaliar o resultado clínico da técnica de "remplissage" associada ao reparo da lesão de Bankart (BK para o tratamento da luxação anterior recidivante do ombro. MÉTODOS: Nove pacientes (10 ombros, com seguimento médio de 13,7 meses, apresentaram luxação traumática anterior recidivante do ombro. Todos tinham lesão de BK associada à lesão de Hill e Sachs (HS, com sinal do "encaixe". O defeito das lesões de HS foi medido e apresentava em média 17,3% (7,7% a 26,7% de perda óssea em relação ao diâmetro da cabeça do úmero. Todos foram submetidos ao reparo artroscópico da lesão de BK associado ao preenchimento ("remplissage" da lesão de HS pela tenodese do infraespinal. RESULTADOS: O escore de Rowe variou de 22,5 (10 a 45 no período pré-operatório para 80,5 (5 a 100 no período pós operatório (p OBJECTIVE: To evaluate the clinical result from the filling ("remplissage" technique in association with Bankart lesion repair for treating recurrent anterior shoulder dislocation. METHODS: Nine patients (10 shoulders, with a mean follow-up of 13.7 months, presented traumatic recurrent anterior shoulder dislocation. All of them had a Bankart lesion, associated with a Hill-Sachs lesion showing the "engaging" sign. The Hill-Sachs lesion defect was measured and showed an average bone loss of 17.3% (7.7% to 26.7% in relation to the diameter of the humeral head. All the cases underwent arthroscopic repair of the Bankart lesion, together with filling of the Hill-Sachs lesion by means of tenodesis of the infraspinatus. RESULTS: The Rowe score ranged from 22.5 (10 to 45 before the operation to 80.5 (5 to 100 after the operation (p < 0.001. The UCLA score ranged from 18.0 (8 to 29 to 31.1 (21 to 31 (p < 0.001. The measurements of external and internal rotation at abduction of 90º after the operation were 63.5º (45º to 90º and 73º (50º to 92º respectively. Two patients presented recurrence (one with dislocation and the other

Hybrid Universities in Malaysia

Science.gov (United States)

Lee, Molly; Wan, Chang Da; Sirat, Morshidi

2017-01-01

Are Asian universities different from those in Western countries? Premised on the hypothesis that Asian universities are different because of hybridization between Western academic models and local traditional cultures, this paper investigates the hybrid characteristics in Malaysian universities resulting from interaction between contemporary…

The Multi-Universe Cosmos. The Origin and Fate of our Universe

Science.gov (United States)

Velan, Karel

18 billion yers ago our Universe, one of many in the Cosmos, emerged from a hot, dense fireball of matter and energy created in the 4-dimensional cosmic space-time from virtual particles receiving their rest mass from a powerful primordial radiation field, the missing link to any viable theory of creation. The cloud of elementary particles and radiation collapsed by gravity into a fireball until its trappped thermal radiation caused a titanic explosion that initiated the expansion and evolution of ours universe. As the universe expanded and cooled it spawned galaxies, stars, planets and life. Proven laws of physics, observationsl data and mathematical computations support the new cosmological model which proposes a large number of universes in the cosmos in varying stages of evolution

Comammox in drinking water systems.

Science.gov (United States)

Wang, Yulin; Ma, Liping; Mao, Yanping; Jiang, Xiaotao; Xia, Yu; Yu, Ke; Li, Bing; Zhang, Tong

2017-06-01

The discovery of complete ammonia oxidizer (comammox) has fundamentally upended our perception of the global nitrogen cycle. Here, we reported four metagenome assembled genomes (MAGs) of comammox Nitrospira that were retrieved from metagenome datasets of tap water in Singapore (SG-bin1 and SG-bin2), Hainan province, China (HN-bin3) and Stanford, CA, USA (ST-bin4). Genes of phylogenetically distinct ammonia monooxygenase subunit A (amoA) and hydroxylamine dehydrogenase (hao) were identified in these four MAGs. Phylogenetic analysis based on ribosomal proteins, AmoA, hao and nitrite oxidoreductase (subunits nxrA and nxrB) sequences indicated their close relationships with published comammox Nitrospira. Canonical ammonia-oxidizing microbes (AOM) were also identified in the three tap water samples, ammonia-oxidizing bacteria (AOB) in Singapore's and Stanford's samples and ammonia-oxidizing archaea (AOA) in Hainan's sample. The comammox amoA-like sequences were also detected from some other drinking water systems, and even outnumbered the AOA and AOB amoA-like sequences. The findings of MAGs and the occurrences of AOM in different drinking water systems provided a significant clue that comammox are widely distributed in drinking water systems. Copyright © 2017 Elsevier Ltd. All rights reserved.

Transition from AdS universe to DS universe in the BPP model

International Nuclear Information System (INIS)

Kim, Wontae; Yoon, Myungseok

2007-01-01

It can be shown that in the BPP model the smooth phase transition from the asymptotically decelerated AdS universe to the asymptotically accelerated DS universe is possible by solving the modified semiclassical equations of motion. This transition comes from noncommutative Poisson algebra, which gives the constant curvature scalars asymptotically. The decelerated expansion of the early universe is due to the negative energy density with the negative pressure induced by quantum back reaction, and the accelerated late-time universe comes from the positive energy and the negative pressure which behave like dark energy source in recent cosmological models

Book Reivew: A chance for lasting survival: Ecology and behavior of wild giant pandas

Science.gov (United States)

van Manen, Frank T.

2015-01-01

“If we watch species going extinct in front of us, how useful is that we publish 100 or even 1,000 papers by studying them?” (p. 330). This quote from senior author Pan Wenshi captures an important essence of this book. A translation of a 2001 monograph originally published in Chinese, this volume details the findings of a 15-year research program in the Qinling Mountains by Wenshi and his students. Starting in 1984, this Chinese research team from Peking University was only the second to study free-ranging pandas. This is the remarkable journey of a devoted group of field researchers who helped changed the course of giant panda conservation, events that few conservationists outside of China have been aware of until now.Review info: A chance for lasting survival: Ecology and behavior of wild giant pandas. By Pan Wenshi, Lü Zhi, Zhu Xiaojian, Wang Dajun, Wang Hao, Long Yu, Fu Dali, and Zhou Xin; edited by, William J. McShea, Richard B. Harris, David L. Garshelis, and Wang Dajun, 2014. ISBN: 978-1-935623-17-5, 349pp.

Passing through the renal clearance barrier: toward ultrasmall sizes with stable ligands for potential clinical applications

Directory of Open Access Journals (Sweden)

Zhang XD

2014-04-01

Full Text Available Xiao-Dong Zhang,1 Jiang Yang,2 Sha-Sha Song,1 Wei Long,1 Jie Chen,1 Xiu Shen,1 Hao Wang,1 Yuan-Ming Sun,1 Pei-Xun Liu,1 Saijun Fan11Tianjin Key Laboratory of Molecular Nuclear Medicine, Institute of Radiation Medicine, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, People's Republic of China; 2Department of Biological Systems Engineering, University of Wisconsin-Madison, Madison, WI, USAAbstract: The use of nanoparticles holds promise for medical applications, such as X-ray imaging, photothermal therapy and radiotherapy. However, the in vivo toxicity of inorganic nanoparticles raises some concern regarding undesirable side effects which prevent their further medical application. Ultrasmall sub-5.5 nm particles can pass through the barrier for renal clearance, minimizing their toxicity. In this letter we address some recent interesting work regarding in vivo toxicity and renal clearance, and discuss the possible strategy of utilizing ultrasmall nanomaterials. We propose that small hydrodynamic sized nanoclusters can achieve both nontoxic and therapeutic clinical features.Keywords: in vivo clearance, gold nanoparticles, small size

The University in a Fragmented World. A Contribution from Sophia University Institute

Directory of Open Access Journals (Sweden)

Callebaut Bernhard

2016-12-01

Full Text Available The John Paul II Catholic University of Lublin (KUL was the very first University to honor the Italian religious leader Chiara Lubich, with a honorary degree. In 2007, Chiara Lubich who shared with Henry cardinal Newman some very similar intuitions on the task of a University, founded on the basis of the charism the Church recognized in her the University Institute Sophia (IUS in Tuscany (Italy. This was to be the very last initiative of her long life as the foundress of the Focolare Movement, Chiara Lubich wanted it to be an interdisciplinary institute bringing together life and studies in harmony. Now, after more than eight years of life, the author dresses a ‘state of the union’ of this University Institute, in the context of the crisis of the universitarian world today.

Effect of the Great Attractor on the cosmic microwave background radiation

Energy Technology Data Exchange (ETDEWEB)

Bertschinger, E [Massachusetts Inst. of Tech., Cambridge, MA (USA). Dept. of Physics; Gorski, K M [Los Alamos National Lab., NM (USA); Dekel, A [Hebrew Univ., Jerusalem (Israel). Racah Inst. of Physics

1990-06-07

ANISOTROPY in the cosmic microwave background radiation (CMB) is expected as a result of fluctuations in gravitational potential caused by large-scale structure in the Universe. The background radiation is redshifted as it climbs out of gravitational wells. Here we present a map of the anisotropy in CMB temperature {Delta}T/T of our region of the Universe as viewed by a distant observer, predicted on the basis of the gravitational potential field. We calculate this field in the vicinity of the Local Group of galaxies from the observed peculiar (non-Hubble) velocities of galaxies, under the assumption that the peculiar motions are induced by gravity. If the cosmological density parameter {Omega} is 1, the gravitational potential field of the Great Attractor and surrounding regions produces a maximum Sachs-Wolfe anisotropy of {Delta}T/T=(1.7{plus minus}0.3) x 10{sup -5} on an angular scale of 1deg. Doppler and adiabatic contributions to this anisotropy are expected to be somewhat larger. If similar fluctuations in the gravitational potential are present elsewhere in the Universe, the anisotropy present when the CMB was last scattered should be visible from the Earth, and should be detectable in current experiments. A fundamental test of whether gravity is responsible for the generation of structure in the Universe can be made by looking for the imprint in the CMB of deep potential wells similar to those found in our neighbourhood, (author).

The Wider Impacts of Universities: Habermas on Learning Processes and Universities

Directory of Open Access Journals (Sweden)

Jesper Eckhardt Larsen

2013-06-01

Full Text Available The discourse of reform in higher education tends to focus narrowly on employability and the relationship between higher education and the labor market. Universities as research institutions are now considered solely in the dominant discourse of innovation. This way of conceiving universities is inspired by functionalist theory that focuses on the imperatives of a knowledge economy. Taking a departure in the theory of society developed by Jürgen Habermas this paper seeks to provide a theoretical framework for an empirical comparative analysis on the wider societal impact of universities. It is the argument that the wider impacts of higher education and research at universities must be seen in a more complex vision of modern societies. The paper is thus primarily a re-reading of Habermas’ critique of functionalist views of the university and an application of Habermas’ critique on current issues in the debates on higher education. A special discussion will be taken on issues of the self in view of the current tendencies to regard all education from the standpoint of the economic outputs.

The University of Stuttgart IKE/University of Arizona student research program

International Nuclear Information System (INIS)

Seale, R.L.

1988-01-01

The University of Stuttgart's Institut fuer Kernenergetik und Energiesysteme (IKE) and the University of Arizona have had a joint program in which graduate students from the IKE spend 1 yr on the University of Arizona campus. This program started in 1982 largely as the result of an initiative begun by K.H. Hoecker, then director of IKE. Since 1985, Alfred Voss has been director and the program has continued without interruption. Under the program, the Deutscher Akademisher Austauschdienst, a government agency of the Federal Republic of Germany has funded scholarships for students from IKE, which provide support for 1 yr during which they attend the University of Arizona as visiting student scholars and engage in a research project under the direction of one of our faculty, which satisfies a part of the requirements for the Ingenieur-Diplom Fachrichtung Maschinenbau. The students get credit for their research from the University of Stuttgart. The topics have a broad range and include software development, artificial intelligence, radiation transport, and energy management studies

Financial Report of Ontario Universities, 1993-94. Volume I - Universities.

Science.gov (United States)

Council of Ontario Universities, Toronto.

This report provides detailed financial information for provincially-assisted colleges and universities in Ontario (Canada) for the fiscal year ended April 30, 1994. It describes university accounting procedures, principles for reporting financial data, and definitions. Nine tables provide summary information on revenue, expenses, fund balances,…

Financial Report of Ontario Universities 1996-97. Volume I-Universities.

Science.gov (United States)

Council of Ontario Universities, Toronto.

This annual report presents 1996-97 financial information on 20 degree-granting universities and related institutions in Ontario, Canada. The report first explains the general guidelines and reporting requirements used in compiling the report, including university accounting procedures, the principles of fund accounting involved, and definitions…

A Universal Reactive Machine

DEFF Research Database (Denmark)

Andersen, Henrik Reif; Mørk, Simon; Sørensen, Morten U.

1997-01-01

Turing showed the existence of a model universal for the set of Turing machines in the sense that given an encoding of any Turing machine asinput the universal Turing machine simulates it. We introduce the concept of universality for reactive systems and construct a CCS processuniversal...

Undulant Universe

Energy Technology Data Exchange (ETDEWEB)

Barenboim, Gabriela; /Valencia U.; Mena, Olga; Quigg, Chris; /Fermilab

2004-12-01

If the equation of state for ''dark energy'' varies periodically, the expansion of the Universe may have undergone alternating eras of acceleration and deceleration. We examine a specific form that survives existing observational tests, does not single out the present state of the Universe as exceptional, and suggests a future much like the matter-dominated past: a smooth expansion without a final inflationary epoch.

Taiwan Universities: Where to Go?

Directory of Open Access Journals (Sweden)

Yu-Ying Kuo

2016-02-01

Full Text Available The dramatic expansion of Taiwan universities/colleges from about 100 to 160 from the late 1980s has encountered problems due to social and global changes. What should Taiwan universities move toward and how? This research relies on secondary data to explore the issues Taiwan universities currently face—a low birth rate and global competition. The decreasing number of incoming students will result in a lower registration rate and less tuition revenue, which will make some universities struggle to survive. Hence, government policies, proposed by the Ministry of Education, have been implemented to assist Taiwan universities to adjust to external changes. The Innovative Transformation Policy, adopted in 2015, consists of strategies for university–industry cooperation, university mergers, university closures, and a re-shaping of the university paradigm. This policy has begun to be implemented and its initial outcome will be continually evaluated. In accordance with the Innovative Transformation Policy, this study encourages Taiwan universities to improve governance, set prominent unique characteristics of development, and enhance global competitiveness.

System performance and economic analysis of solar-assisted cooling/heating system

KAUST Repository

Huang, B.J.; Wu, J.H.; Yen, R.H.; Wang, J.H.; Hsu, H.Y.; Hsia, C.J.; Yen, C.W.; Chang, J.M.

2011-01-01

The long-term system simulation and economic analysis of solar-assisted cooling/heating system (SACH-2) was carried out in order to find an economical design. The solar heat driven ejector cooling system (ECS) is used to provide part of the cooling

Optimal control and performance test of solar-assisted cooling system

KAUST Repository

Huang, B.J.; Yen, C.W.; Wu, J.H.; Liu, J.H.; Hsu, H.Y.; Petrenko, V.O.; Chang, J.M.; Lu, C.W.

2010-01-01

temperature. This will make the SACH always produce cooling effect even at lower solar radiation periods while the ejector performs at off-design conditions. The energy saving of A/C is experimentally shown 50-70% due to the cooling performance of ECS

Recent results and perspectives on cosmology and fundamental physics from microwave surveys

DEFF Research Database (Denmark)

Burigana, Carlo; Battistelli, Elia Stefano; Benetti, Micol

2016-01-01

Recent cosmic microwave background (CMB) data in temperature and polarization have reached high precision in estimating all the parameters that describe the current so-called standard cosmological model. Recent results about the integrated Sachs-Wolfe (ISW) effect from CMB anisotropies, galaxy su...

Daniel Bain lämmatas plekivabrikus puhkenud oktoobrirevolutsiooni / Andres Reimer

Index Scriptorium Estoniae

Reimer, Andres

2005-01-01

Investeerimispangad Goldman Sachs ja Deutshe Bank ning Venemaa terasehiiglase Severstal tütarfirma Severstallat üritasid Galvexit üle võtta. Väidetavalt sai Galvexi omanik ameeriklane Daniel Bain pankadele tagasimakstava summa USA investeerimisettevõttest. Lisa: Galvexi ajalugu. Vt. samas: Omanike teravad suhted

Performance test of solar-assisted ejector cooling system

KAUST Repository

Huang, Bin-Juine; Ton, Wei-Zhe; Wu, Chen-Chun; Ko, Hua-Wei; Chang, Hsien-Shun; Hsu, Hang-Yuen; Liu, Jen-Hao; Wu, Jia-Hung; Yen, Rue-Her

2014-01-01

are developed in SACH-k2, including generator liquid level control in ECS, the ECS evaporator temperature control, and optimal control of fan power in cooling tower of ECS. From the field test results, the generator liquid level control performs quite well

Medical universities educational and research online services: benchmarking universities' website towards e-government.

Science.gov (United States)

Farzandipour, Mehrdad; Meidani, Zahra

2014-06-01

Websites as one of the initial steps towards an e-government adoption do facilitate delivery of online and customer-oriented services. In this study we intended to investigate the role of the websites of medical universities in providing educational and research services following the E-government maturity model in the Iranian universities. This descriptive and cross- sectional study was conducted through content analysis and benchmarking the websites in 2012. The research population included the entire medical university website (37). Delivery of educational and research services through these university websites including information, interaction, transaction, and Integration were investigated using a checklist. The data were then analyzed by means of descriptive statistics and using SPSS software. Level of educational and research services by websites of the medical universities type I and II was evaluated medium as 1.99 and 1.89, respectively. All the universities gained a mean score of 1 out of 3 in terms of integration of educational and research services. Results of the study indicated that Iranian universities have passed information and interaction stages, but they have not made much progress in transaction and integration stages. Failure to adapt to e-government in Iranian medical universities in which limiting factors such as users' e-literacy, access to the internet and ICT infrastructure are not so crucial as in other organizations, suggest that e-government realization goes beyond technical challenges.

Wikipedia ranking of world universities

Science.gov (United States)

Lages, José; Patt, Antoine; Shepelyansky, Dima L.

2016-03-01

We use the directed networks between articles of 24 Wikipedia language editions for producing the wikipedia ranking of world Universities (WRWU) using PageRank, 2DRank and CheiRank algorithms. This approach allows to incorporate various cultural views on world universities using the mathematical statistical analysis independent of cultural preferences. The Wikipedia ranking of top 100 universities provides about 60% overlap with the Shanghai university ranking demonstrating the reliable features of this approach. At the same time WRWU incorporates all knowledge accumulated at 24 Wikipedia editions giving stronger highlights for historically important universities leading to a different estimation of efficiency of world countries in university education. The historical development of university ranking is analyzed during ten centuries of their history.

The accidental universe

International Nuclear Information System (INIS)

Davies, P.C.W.

1982-01-01

Is our universe an accident of nature. The mysterious coincidences underlying the structure and properties of the universe that we inhabit are examined. This is the first book for the non-specialist reader to present in depth the provocative hypothesis that the structure of the physical world is exceedingly contrived in its appearance. A survey is presented of the range of apparently miraculous accidents of nature that have enabled the universe to evolve its familiar structures: atoms, stars, galaxies, and life itself. This book concludes with an investigation of the so-called 'anthropic principle' which postulates that 'miraculous coincidences' are inevitable in any universe containing conscious observers. This thesis of a cosmic biological selection effect will both reassure and enrage readers, the very existence of whom may be related to fine tuning in the laws of physics. (author)

A Mutually Beneficial Relationship: University of the Third Age and a regional university campus

Directory of Open Access Journals (Sweden)

Bronwyn Ellis

2011-11-01

Full Text Available A mutually beneficial relationship has developed over the past 15 years between a regional South Australian branch of the University of the Third Age (U3A and the local university campus. Arising from the initiative of a community member, the group sought assistance from the university, and has now become integrated into campus life. The university has provided a venue for meetings and access to other facilities, and university staff have contributed to the program of classes. The U3A has undoubtedly benefited from these inputs. However, the university has also benefited from these opportunities to engage with the wider community, the presence of willing volunteers to contribute in various ways to university classes and other activities, and favourable word-of-mouth marketing. Beginning with background information on U3A, the local branch and its setting, we reflect on the sustainability of this relationship with the university and the factors that have contributed to this. We draw on our U3A experience and on two qualitative research projects in which U3A members have taken part: projects which have investigated their motivation for participation in U3A classes and activities, and the contributions of U3A to the university and vice versa. Not only has the relationship itself been sustained thus far, it has also contributed to sustaining U3A members in their active involvement in learning and community activities, and has been a significant part of community engagement activities of the campus. Keywords University of the Third Age; university-community engagement; mutual benefit; lifelong learning; retirement; productive ageing

Entrepreneurship in Finnish Universities

Science.gov (United States)

Nurmi, Piia; Paasio, Kaisu

2007-01-01

Purpose: The purpose of this paper is to discuss the role of universities in fostering and promoting entrepreneurship in Finland. In particular it seeks to examine the university-entrepreneurship relationship: its nature and how universities are addressing the entrepreneurship agenda. Design/methodology/approach: The paper is based on a large…

Universal (Global Evolutionism

Directory of Open Access Journals (Sweden)

Arkady Ursul

2018-02-01

Full Text Available In this article investigate a general scientific concept of a global (universal evolution, in which selforganization of the material systems acts as a common ground and a permanent process of progressive development in the visible Universe. The main problem of research of this type of evolution is seen as a superhighway trajectory of evolutionary processes in the Universe, in which there is a continuous selforganization of the material systems, ranging from the Big Bang and to the social level of evolution, which may have an indefinite continuation of society and nature

The Scholarly Communication Process within the University Research Corridor (Michigan State University, the University of Michigan, and Wayne State University): A Case Study in Cooperation

Science.gov (United States)

Utter, Timothy; Holley, Robert P.

2009-01-01

The growth of open access publishing, the development of institutional repositories, and the availability of millions of digitized monographs and journals are rapidly changing scholarly communication. This case study looks at the current and possible uses of these tools by Michigan's three largest universities: Michigan State University, the…

Improving Innovation in University Spin-Offs. The Fostering Role of University and Region

Directory of Open Access Journals (Sweden)

Antonio Prencipe

2016-06-01

Full Text Available University spin-offs (USOs are companies created to commercialize knowledge or technology developed in academia; thus, their major contribution to the knowledge economy is their ability to generate innovation. Following the Resource-Based View of the Firm and the Knowledge Spillover Theory of Entrepreneurship, it was stated that fostering mechanisms at university level and at regional level may positively influence the USOs innovation. Based on a sample of 621 Italian USOs, we show that the positive impact of the university context is more crucial compared with those of the regional context. In particular, the university affiliated business incubators and Science Parks, jointly with the university financial resources, seem to promote the innovation efforts of USOs. These evidences rise the need of a resilient partnership among all the contextual players involved in the spillover processes, mainly at regional level, in order to effectively exploit the potential innovative efforts of the university start-ups.

Imagining the Future University

DEFF Research Database (Denmark)

Bengtsen, Søren Smedegaard; Barnett, Ronald

'Imagining the Future University' is a special issue in the journal Philosophy and Theory in Higher Education, published by Peter Lang. Editor in Chief of the journal is John Petrovic, University of Alabama. The speciale issue is edited by Søren Bengtsen and Ronald Barnett.......'Imagining the Future University' is a special issue in the journal Philosophy and Theory in Higher Education, published by Peter Lang. Editor in Chief of the journal is John Petrovic, University of Alabama. The speciale issue is edited by Søren Bengtsen and Ronald Barnett....

The future of the universe

CERN Document Server

Meadows, AJ

2007-01-01

Many books have described how the universe became the way it is today. But what about the future of the universe? How long might the universe as we recognize it survive? The Future of the Universe takes the reader on a journey through space and time, beginning with a long look at the Earth and solar system, voyaging to the outermost galaxies, and finishing with speculations about the life and fate of the entire universe.

Life at a Teaching University

Science.gov (United States)

Marineau, Josiah F.

2018-01-01

Many new political science faculty at teaching universities are recent PhD recipients, and are coming to these institutions from research-oriented universities. There are considerable differences between the training for graduate students received at research universities and the expectations for faculty at teaching universities. This essay…

Universities Venture into Venture Capitalism.

Science.gov (United States)

Desruisseaux, Paul

2000-01-01

Reports that some universities are starting their own venture-capital funds to develop campus companies, or are investing endowment funds with established venture-capital firms inclined to finance potential spinoffs from campus research. Examples cited are from the University of Alabama, Vanderbilt University (Tennessee), University of…

RESEARCH UNIVERSITIES IN MALAYSIA: WHAT BEHOLDS?

Directory of Open Access Journals (Sweden)

Nooraini Mohamad Sheriff

2017-12-01

Full Text Available The National Higher Education Strategic Plan Beyond 2020 aims at further strengthening Malaysian research universities and envisions that two Malaysian universities will be among the Top 100 world universities. To date there are 5 research universities in Malaysia, namely University of Malaya (UM, Universiti Kebangsaan Malaysia (UKM, Universiti Sains Malaysia (USM, Universiti Putra Malaysia (UPM and Universiti Teknologi Malaysia (UTM being the latest addition. These research universities are required to focus primarily on research and innovation activities, driven by highly competent academics and competitive student admissions. Research universities too are expected to explore their intellectual capacity and become models of Malaysian universities in conducting research activities aimed at knowledge advancement. Apart from this research universities are entrusted to generate their own income and establish holding companies responsible for conducting business ventures through the commercialization of their research products. Quality and quantity of researchers, research and postgraduates are also expected to increase in these research driven institutions. This calls for a visionary university leadership and the application of a new image and organizational principles. Education, training and employment policies too have to be reviewed, to ensure staff have the skills necessary for the development of research activities.

Quantum entanglement of baby universes

International Nuclear Information System (INIS)

Aganagic, Mina; Okuda, Takuya; Ooguri, Hirosi

2007-01-01

We study quantum entanglements of baby universes which appear in non-perturbative corrections to the OSV formula for the entropy of extremal black holes in type IIA string theory compactified on the local Calabi-Yau manifold defined as a rank 2 vector bundle over an arbitrary genus G Riemann surface. This generalizes the result for G=1 in hep-th/0504221. Non-perturbative terms can be organized into a sum over contributions from baby universes, and the total wave-function is their coherent superposition in the third quantized Hilbert space. We find that half of the universes preserve one set of supercharges while the other half preserve a different set, making the total universe stable but non-BPS. The parent universe generates baby universes by brane/anti-brane pair creation, and baby universes are correlated by conservation of non-normalizable D-brane charges under the process. There are no other source of entanglement of baby universes, and all possible states are superposed with the equal weight

Quantum entanglement of baby universes

International Nuclear Information System (INIS)

Essman, Eric P.; Aganagic, Mina; Okuda, Takuya; Ooguri, Hirosi

2006-01-01

We study quantum entanglements of baby universes which appear in non-perturbative corrections to the OSV formula for the entropy of extremal black holes in type IIA string theory compactified on the local Calabi-Yau manifold defined as a rank 2 vector bundle over an arbitrary genus G Riemann surface. This generalizes the result for G=1 in hep-th/0504221. Non-perturbative terms can be organized into a sum over contributions from baby universes, and the total wave-function is their coherent superposition in the third quantized Hilbert space. We find that half of the universes preserve one set of supercharges while the other half preserve a different set, making the total universe stable but non-BPS. The parent universe generates baby universes by brane/anti-brane pair creation, and baby universes are correlated by conservation of non-normalizable D-brane charges under the process. There are no other source of entanglement of baby universes, and all possible states are superposed with the equal weight

Establishing a University Foundation.

Science.gov (United States)

Lemish, Donald L.

A handbook on how to establish a university foundation is presented. It presupposes that a foundation will be used as the umbrella organization for receiving all private gifts, restricted and unrestricted, for the benefit of a public college or university; and hence it chiefly addresses readers from public colleges and universities. Information is…

A business strategy formulation for commercializing university-created technology: A university spin-offs

Science.gov (United States)

Saputra, Iqbal Wahyu; Sutopo, Wahyudi; Zakaria, Roni

2018-02-01

There are some mechanism to commercialize the innovations that have been developed by academic scientists in universities, i.e. patenting, licensing, start-up creation, and university-industry partnerships. The start-up creations or university spin-offs (USOs) company is a very special start-up company that is founded by an academic inventor and the university with the aim to commercialize the technological innovation that created by the university. However, it is not always as smooth as expected. The market competitiveness of the USOs obviously has many challenges to be able to compete with the existing companies, analysis need to be done to get the right business step so the business strategy will be efficient. In this article, we discuss a real case study of a university spin-off that owned by Sebelas Maret University for Commercializing Battery Lithium. The aim of our research is twofold: first, to identify the gap in the literature of business strategy formulation between a conventional and USOs. Second, to propose a business strategy formulation for commercializing university-created technology, i.e. battery lithium as core business of a university spin-off as a case study. We conduct surveys, observation and FGD in order to collect the data and information to build the company objective and goals. The analytical tools to generate the solution of business strategy are SWOT analysis, IFE-EFE matrix, and QSPM model so the result will be the most attractive and suitable for the company. The result shows that the case study of USO company is classified on conservative continuous improvement phase so the suitable strategy for this company are product development and business strategy integration.