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.

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

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

Indian Academy of Sciences (India)

Energy in the Kantowski–Sachs space-time using teleparallel geometry ... Kantowski–Sachs metric; teleparallelism; gravitational energy. Abstract. The purpose of this paper is to examine the energy content of the inflationary Universe described by Kantowski–Sachs space-time in quasilocal approach of teleparallel gravity ...

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

[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.

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.

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 ...

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)

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.

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.

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

Directory of Open Access Journals (Sweden)

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.

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).

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

"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)

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

Science.gov (United States)

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.

Science.gov (United States)

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.

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.

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

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.

Science.gov (United States)

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.

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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.

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.

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

Directory of Open Access Journals (Sweden)

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.

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

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

Science.gov (United States)

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.

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 .

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.

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.

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

Science.gov (United States)

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.

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.)

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.

[Dr Mavro Sachs (1817-1888): the first lecturer of Zagreb University].

Science.gov (United States)

Dugacki, Vladimir

2010-01-01

Mavro Sachs (Jánosháza, Hungary, 1817 % emdash; Rijeka, 1888.) was a Zagreb student since 1828. In 1846 he graduated in medicine from the University of Vienna and returned to Zagreb to be the city physician. In 1849, he started to teach forensic medicine at the School of Law of the Royal Academy of Sciences in Zagreb and continued teaching the same subject at the Zagreb University Faculty of Law in the capacity of docent (corresponds to lecturer in the British system). He also taught medical law at pharmaceutical studies of Zagreb University. From 1855 to 1860, he presided over the Jewish Community of Zagreb.

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.

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.

Spherically symmetric Einstein-aether perfect fluid models

Energy Technology Data Exchange (ETDEWEB)

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.

Science.gov (United States)

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.

Science.gov (United States)

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.

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.

Science.gov (United States)

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

Directory of Open Access Journals (Sweden)

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.

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.

Science.gov (United States)

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%).

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

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

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

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

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.

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

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.

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

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

Science.gov (United States)

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

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

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.

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.)

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.

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).

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 ...

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)

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.

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.

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

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).

[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

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

Science.gov (United States)

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.

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.

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.

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.

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.

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.

Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases

Directory of Open Access Journals (Sweden)

Luciano de Souza Queiroz

1974-03-01

Full Text Available Neuronal ceroid-lipofuscinosis (NCL is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI. Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease, in which intraneuronal accumulation of gangliosides (sphingolipids is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky type and a brother and a sister of the juvenile (Spielmeyer-Sjögren type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.

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.

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

Science.gov (United States)

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.

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

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.

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.

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.

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...

76 FR 19097 - Ocean Transportation Intermediary License Applicants

Science.gov (United States)

2011-04-06

... Sachs, Partner/Logistics Manager (Qualifying Individual), Ali Ismailzada, Partner/CFO, Application Type... at (202) 523-5843 or by e-mail at [email protected] . Agility Logistics Corp. (OFF), 240 Commerce, Irvine... Avenue, Newark, NJ 07083, Officer: Hakeem K. Bisiolu, Member/Manager (Qualifying Individual), Application...

A Trp474Cys mutation in the alpha-subunit of beta-hexosaminidase causes a subacute encephalopathic form of G{sub M2} gangliosidosis, type 1

Energy Technology Data Exchange (ETDEWEB)

Petroulakis, E.; Cao, Z.; Salo, T. [Univ. of Manitoba, Winnipeg (Canada)] [and others

1994-09-01

Mutations in the HEXA gene that encodes the {alpha}-subunit of the heterodimeric lysosomal enzyme {beta}-hexosaminidase A, or Hex A ({alpha}{beta}), cause G{sub M2} gangliosidosis, type 1. The infantile form (Tay-Sachs disease) results when there is no residual Hex A activity, while less severe and more variable clinical phenotypes result when residual Hex A activity is present. A non-Jewish male who presented with an acute psychotic episode at age 16 was diagnosed with a subacute encephalopathic form of G{sub M2} gangliosidosis. At age 19, chronic psychosis with intermittent acute exacerbations remains the most disabling symptom in this patient and his affected brother although both exhibit some ataxia and moderately severe dysarthria. We have found a 4 bp insertion (+TATC 1278) associated with infantile Tay-Sachs disease on one allele; no previously identified mutation was found on the second allele. SSCP analysis detected a shift in exon 13 and sequencing revealed a G1422C mutation in the second allele that results in a Trp474Cys substitution. The presence of the mutation was confirmed by the loss of HaeIII and ScrFI sites in exon 13 PCR products from the subjects and their father. The mutation was introduced into the {alpha}-subunit cDNA and Hex S ({alpha}{alpha}) and Hex A ({alpha}{beta}) were transiently expressed in monkey COS-7 cells. The Trp474Cys mutant protein had approximately 5% and 12% of wild-type Hex S and Hex A activity, respectively. Western blot analysis revealed a small amount of residual mature {alpha}-subunit and a normal level of precursor protein. We conclude that the Trp474Cys mutation is the cause of the Hex A deficiency associated with a subacute (juvenile-onset) phenotype in this patient. Like other mutations in exon 13 of HEXA, it appears to affect intracellular processing. Studies of the defect in intracellular processing are in progress.

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...

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....

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.

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...

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.)

Unverrichteter Sache

Directory of Open Access Journals (Sweden)

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

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.

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)

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.

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...

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.

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

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 ...

Stories, Heroes and Commercials. Spreading the Message across with a New Type of Responsibility

Directory of Open Access Journals (Sweden)

Ana ADI

2015-12-01

Full Text Available Stories have always been a form of communication, the first form of narrative we have encountered in early childhood. And although we have grown up they continue to fascinate us. They maintain and recreate bonds with old traditions, legends, archetypes, myths and symbols. In analyzing stories, Joseph Campbell (2008 proposed the monomyth or the Hero's Journey, a basic pattern, which comprises fundamental stages and structures identifiable in all narratives from different cultures and ages. Although the pattern was further refined and enriched according to the specifics of the narrative (myth, fairy tale, dream, movie etc. the common structural elements of the Hero's Journey from the ordinary world to a challenging and unfamiliar world include: the departure, the initiation and the return. Picking up on Campbell’s model, Sachs (2012 proposes a circular representation of the hero and his/her journey. In this model, a new character, the mentor, plays a pivotal role in the shaping of the hero and his/her transformation. It is the mentor that supports the hero in her/his taking the call to adventure as well as in providing the needed support for crossing the thresholds to the supernatural world and back. Based on what Sachs (2012 suggests that brands could use storytelling as a means to engage with consumers. In doing so he argues that brands should reflect and adopt the role of mentors in their consumers’ journeys, guiding them through the challenges on their own world and contributing to their personal fulfillment. This paper aims to evaluate four stories, all focused on women and empowerment and as a result our discussion focuses mainly on the position of the brand within the story and its role. This, we believe, may contribute to a new trend focused on the adoption and applications of empowerment storytelling.

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.

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.

The fear of the Lord as key pastoral guidance, for a healing ministry to survivors of generational ritual abuse / by Karen Hayward

OpenAIRE

Hayward, Karen

2010-01-01

Generational ritual abuse within satanic or fertility (abusive witchcraft) cults is a controversial subject. This study shows that, while not all reported memories may be true, False Memory Syndrome is not an intrinsic scientific reality of generational ritual abuse. Recent publications under the editorial pens of Noblitt and Perskin Noblitt (2008), as well as Sachs and Galton (2008), describe the types of abuse and torture perpetrated in various forms of ritual abuse (including the results o...

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

THE SOCIAL OPERATING LICENSE OF CORPORATIONS: MINING COMPANIES AND THEIR CONSTITUENTS

OpenAIRE

Dumitru Borțun; Camelia Crişan

2012-01-01

Several authors from the CSR literature have proposed the term “license to operate” when referring to companies and their activities in the relevant communities (Visser, 2008, Post, Preston & Sachs, 2002). Others have implied this term when referring to the types of responsibilities a company needs to have in order to be able to exercise its activity in the society (Blair [1994] 2004, Clarke [1998] 2004 and Philips 2003). Consultancy companies have already coined the term: social license to o...

Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases Ceróide-lipofuscinose neuronal, um tipo de idiotia amaurótica familiar: estudo clínico-patológico de quatro casos

Directory of Open Access Journals (Sweden)

Luciano de Souza Queiroz

1974-03-01

Full Text Available Neuronal ceroid-lipofuscinosis (NCL is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI. Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease, in which intraneuronal accumulation of gangliosides (sphingolipids is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky type and a brother and a sister of the juvenile (Spielmeyer-Sjögren type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.Estudos histoquímicos, bioquímicos e ultraestruturais permitiram recentemente distinguir dois tipos de entidades nosológicas dentre as doenças conhecidas como "Idiotia amaurótica familiar" (IAF. O primeiro, que inclue a doença de Tay-Sachs, ou tipo infantil de IAF, é constituido por doenças de armazenamento de gangliósides. Sua patogenia é conhecida, baseando-se em deficiências de enzimas lisossômicos. O segundo grupo, cuja patogenia é desconhecida, foi recentemente designado "Ceróide-lipofuscinose neuronal" (CLN por Zeman e colaboradores. Corresponde aos tipos infantil tardio, juvenil e adulto de IAF, caracterizando-se histopatologicamente pelo ac

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 ...

Characterization of the active deformation mechanisms in Zirconium alpha alloys, and use of micro-macro transfer models

International Nuclear Information System (INIS)

Francillette, H.; Bacroix, B.; Gasperini, M.; Lebensohn, R.A.

1996-01-01

The aim of this study is to model the evolution of the crystallographic textures of rolled zirconium sheet metals, based on the active deformation mechanisms. Plane compression tests have been carried out on Zr 702 polycrystalline samples, at ambient temperature. Active mechanisms were identified and characterized by the means of local orientation measurements (EBSD: electron BackScattering Diffraction), completed with global texture measurements. Measured orientations are then introduced in Taylor, Sachs and self-coherent type micro-macro models in order to validate these models with respect to mechanism activation and texture evolution. (A.B.)

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

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

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.

Evolutionary explanations in medical and health profession courses: are you answering your students' "why" questions?

Directory of Open Access Journals (Sweden)

Malyango Avelin A

2005-05-01

Full Text Available Abstract Background Medical and pre-professional health students ask questions about human health that can be answered in two ways, by giving proximate and evolutionary explanations. Proximate explanations, most common in textbooks and classes, describe the immediate scientifically known biological mechanisms of anatomical characteristics or physiological processes. These explanations are necessary but insufficient. They can be complemented with evolutionary explanations that describe the evolutionary processes and principles that have resulted in human biology we study today. The main goal of the science of Darwinian Medicine is to investigate human disease, disorders, and medical complications from an evolutionary perspective. Discussion This paper contrasts the differences between these two types of explanations by describing principles of natural selection that underlie medical questions. Thus, why is human birth complicated? Why does sickle cell anemia exist? Why do we show symptoms like fever, diarrhea, and coughing when we have infection? Why do we suffer from ubiquitous age-related diseases like arteriosclerosis, Alzheimer's and others? Why are chronic diseases like type II diabetes and obesity so prevalent in modern society? Why hasn't natural selection eliminated the genes that cause common genetic diseases like hemochromatosis, cystic fibrosis, Tay sachs, PKU and others? Summary In giving students evolutionary explanations professors should underscore principles of natural selection, since these can be generalized for the analysis of many medical questions. From a research perspective, natural selection seems central to leading hypotheses of obesity and type II diabetes and might very well explain the occurrence of certain common genetic diseases like cystic fibrosis, hemochromatosis, Tay sachs, Fragile X syndrome, G6PD and others because of their compensating advantages. Furthermore, armed with evolutionary explanations, health care

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...

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

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 ...

Optimal control and performance test of solar-assisted cooling system

KAUST Repository

Huang, B.J.

2010-10-01

The solar-assisted cooling system (SACH) was developed in the present study. The ejector cooling system (ECS) is driven by solar heat and connected in parallel with an inverter-type air conditioner (A/C). The cooling load can be supplied by the ECS when solar energy is available and the input power of the A/C can be reduced. In variable weather, the ECS will probably operate at off-design condition of ejector and the cooling capability of the ECS can be lost completely. In order to make the ejector operate at critical or non-critical double-choking condition to obtain a better performance, an electronic expansion valve was installed in the suction line of the ejector to regulate the opening of the expansion valve to control the evaporator 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. The long-term performance test results show that the daily energy saving is around 30-70% as compared to the energy consumption of A/C alone (without solar-driven ECS). The total energy saving of A/C is 52% over the entire test period. © 2010 Elsevier Ltd. All rights reserved.

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

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

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

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

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 ...

Management of the athlete with a failed shoulder instability procedure.

Science.gov (United States)

Gwathmey, F Winston; Warner, Jon J P

2013-10-01

The athlete with a failed instability procedure requires a thoughtful and systematic approach to achieve a good outcome. Goals of treatment should be defined and realistic expectations should be set. Revision stabilization has a high rate of recurrent instability, low rates of return to play, and low clinical outcome scores. Fundamental to successful revision surgery is choosing the correct procedure. The decision is straightforward in athletes with clear factors that predict recurrence (significant glenoid bone loss, engaging Hill-Sachs lesions) because only a bony procedure can restore the articular arc of the glenoid. Arthroscopic revision Bankart repair may be appropriate in those athletes who have an obvious Bankart tear and no bone loss after a traumatic reinjury. The challenge for the shoulder surgeon is identifying the best surgery for the athlete who does not have such clear-cut indications. Each factor that has the potential to lead to a poor outcome needs to be collected and calculated. Patient factors (age, laxity, type and level of sport), injury factors (mechanism of injury, capsulolabral injury, glenoid bone loss, Hill-Sachs lesion), and technical factors (previous surgery performed, integrity of repair, scarring) must be integrated into the treatment algorithm. Based on this collection of factors, the shoulder surgeon should be prepared to provide the athlete with the surgery that provides the best chance to return to playing sports and the lowest risk of recurrent instability. Copyright © 2013 Elsevier Inc. All rights reserved.

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

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

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 ...

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

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.

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...

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.

MR imaging of subscapularis tendon injury in the setting of anterior shoulder dislocation

Energy Technology Data Exchange (ETDEWEB)

Gyftopoulos, Soterios; Carpenter, Elizabeth; Kazam, Jonathan; Babb, James; Bencardino, Jenny [NYU Hospital for Joint Diseases, New York, NY (United States)

2012-11-15

To evaluate the degree and location patterns of subscapularis tendon injury in patients with prior anterior shoulder dislocation (ASD). Forty-five consecutive MR shoulder examinations in patients with a history of ASD and 20 consecutive MR examinations in patients without prior dislocation were reviewed. Two readers assessed for the presence and location of tendinosis and tearing in the subscapularis tendon, which was divided into three segments: superior, middle, and inferior. The readers also documented the presence of anterior labral tears, osseous Bankart defects and Hill-Sachs lesions. Fisher's exact tests were performed to analyze the different types of pathology and their locations. Subscapularis tendinosis, and partial thickness and full thickness tears were more common in patients with a history of ASD. Tendinosis was found in 60-64.4% of the dislocation patients compared with 40% of the non-dislocation group. When stratified by location, the middle and inferior thirds were the most commonly affected with statistical significance (p < 0.05) found in tearing of the inferior third. Anterior labral tears, osseous Bankart defects, and Hill-Sachs lesions were more common in the dislocation group with statistically significant associations with tendinosis in the middle and inferior thirds and tearing of the middle third (p < 0.05). Our study suggests an association between middle and inferior subscapularis tendon pathology and prior anterior shoulder dislocation. Based on our results, careful MR assessment of the subscapularis tendon by the radiologist is indicated in the setting of ASD as injury of this structure can be symptomatic and may be amenable to treatment. (orig.)

MR imaging of subscapularis tendon injury in the setting of anterior shoulder dislocation

International Nuclear Information System (INIS)

Gyftopoulos, Soterios; Carpenter, Elizabeth; Kazam, Jonathan; Babb, James; Bencardino, Jenny

2012-01-01

To evaluate the degree and location patterns of subscapularis tendon injury in patients with prior anterior shoulder dislocation (ASD). Forty-five consecutive MR shoulder examinations in patients with a history of ASD and 20 consecutive MR examinations in patients without prior dislocation were reviewed. Two readers assessed for the presence and location of tendinosis and tearing in the subscapularis tendon, which was divided into three segments: superior, middle, and inferior. The readers also documented the presence of anterior labral tears, osseous Bankart defects and Hill-Sachs lesions. Fisher's exact tests were performed to analyze the different types of pathology and their locations. Subscapularis tendinosis, and partial thickness and full thickness tears were more common in patients with a history of ASD. Tendinosis was found in 60-64.4% of the dislocation patients compared with 40% of the non-dislocation group. When stratified by location, the middle and inferior thirds were the most commonly affected with statistical significance (p < 0.05) found in tearing of the inferior third. Anterior labral tears, osseous Bankart defects, and Hill-Sachs lesions were more common in the dislocation group with statistically significant associations with tendinosis in the middle and inferior thirds and tearing of the middle third (p < 0.05). Our study suggests an association between middle and inferior subscapularis tendon pathology and prior anterior shoulder dislocation. Based on our results, careful MR assessment of the subscapularis tendon by the radiologist is indicated in the setting of ASD as injury of this structure can be symptomatic and may be amenable to treatment. (orig.)

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...

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

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

Inherited textures in the bcc phase furnish information about the type of transformation from the fcc phase

International Nuclear Information System (INIS)

Jung, V.

1982-07-01

Drawing annealed cylindric 18/8 Cr Ni steels, which are originally free of textures, produces the transformed phases - hcp and bcc - both showing major texture contributions with increasing stretching of the cylindric specimens. After stretching the original fcc-phase shows two orientations: [100]fcc vertical stroke vertical stroke cylinder axis and [111]fcc vertical stroke vertical stroke cylinder axis, i.e. direction of stress. In both cases the martensitic phase is produced by gliding and shear in the sequence fcc → hcp → bcc by Nishiyama-Wasserman (N-W) or Kurdjumov-Sachs (K-S) transformation in the (111)fcc planes, which enclose a small angle with direction of stress, i.e. cylinder axis. The calculated orientation distributions of the (110)bcc reflex are compared with the distribution measured by neutron diffraction to get information on the bulk material. The special K-S transformation with only 6 (110)bcc orientations shows relatively good agreement with the measured distribution, except at small angles ω between the cylinder axis and the scattering vector. This might be caused by the isotropic fraction of the fcc phase producing an anisotropic (110)bcc orientation distribution. (orig.) [de

Pflege – eine Sache der ganzen Familie

Directory of Open Access Journals (Sweden)

Nicole Maly-Lukas

2005-07-01

Full Text Available Derzeit sind in der Bundesrepublik Deutschland ca. 2 Millionen Menschen pflegebedürftig. Etwa 1,4 Millionen werden im häuslichen Bereich – in der Regel von Familienmitgliedern gepflegt – z. T. mit professioneller Unterstützung. Die Familie ist also weiterhin „der größte Pflegedienst der Nation“. Und es sind hauptsächlich die Frauen, die sich für die Pflege von Familienmitgliedern verantwortlich fühlen. Gröning et al. möchten sich in ihrem Buch In guten wie in schlechten Tagen aber nicht auf die Belastungen der pflegenden Frauen beschränken. Sie stellen die Generationen- und Geschlechterbeziehungen, die einen großen Einfluss auf die familiäre Pflegebeziehung haben, in den Vordergrund. In dem Buch Pflegegeschichten kommen rund 40 pflegende Angehörige selbst zu Wort, indem sie ‚ihre‘ persönliche „Pflegegeschichte“ erzählen.

Primordial non-Gaussianity with μ-type and y -type spectral distortions: exploiting Cosmic Microwave Background polarization and dealing with secondary sources

Energy Technology Data Exchange (ETDEWEB)

Ravenni, Andrea; Liguori, Michele; Bartolo, Nicola [Dipartimento di Fisica e Astronomia ' G. Galilei' , Università degli Studi di Padova, via Marzolo 8, Padova, I-35131 Italy (Italy); Shiraishi, Maresuke, E-mail: ravenni@pd.infn.it, E-mail: liguori@pd.infn.it, E-mail: bartolo@pd.infn.it, E-mail: shiraishi-m@t.kagawa-nct.ac.jp [Department of General Education, National Institute of Technology, Kagawa College, 355 Chokushi-cho, Takamatsu, Kagawa, 761-8058 Japan (Japan)

2017-09-01

Cross-correlations between Cosmic Microwave Background (CMB) temperature and y -spectral distortion anisotropies have been previously proposed as a way to measure the local bispectrum parameter f {sub NL}{sup loc}. in a range of scales inaccessible to either CMB ( T , E ) bispectra or μ T correlations. This is useful e.g. to test scale dependence of primordial non-Gaussianity. Unfortunately, the primordial y T signal is strongly contaminated by the late-time correlation between the Integrated Sachs Wolfe and Sunyaev-Zel'dovich (SZ) effects. Moreover, SZ itself generates a large noise contribution in the y -parameter map. We consider two original ways to address these issues. In order to remove the bias due to the SZ-CMB temperature coupling, while also providing additional signal, we include in the analysis the cross-correlation between y -distortions and CMB polarization . In order to reduce the noise, we propose to clean the y -map by subtracting a SZ template, reconstructed via cross-correlation with external tracers (CMB and galaxy-lensing signals). We combine this SZ template subtraction with the previously suggested solution of directly masking detected clusters. Our final forecasts show that, using y -distortions, a PRISM-like survey can achieve 1σ( f {sub NL}{sup loc}.) = 300, while an ideal experiment will achieve 1σ( f {sub NL}{sup loc}.) = 130 with improvements of a factor between 2.1 and 3.8, depending on the considered survey, from adding the y E signal, and a further 20–30 % from template cleaning. These forecasts are much worse than current f {sub NL}{sup loc}. boundaries from Planck , but we stress that they refer to completely different scales.

The distribution of intervariant crystallographic planes in a lath martensite using five macroscopic parameters

International Nuclear Information System (INIS)

Beladi, Hossein; Rohrer, Gregory S.; Rollett, Anthony D.; Tari, Vahid; Hodgson, Peter D.

2014-01-01

Electron backscatter diffraction analysis was employed to compute the closest orientation relationship and the distribution of intervariant boundary character in a lath martensitic microstructure. The misorientations were close to the Kurdjumov–Sachs orientation relationship. The intervariant crystallographic plane distribution exhibited a relatively high anisotropy with a tendency for the lath interfaces to terminate on (1 1 0) planes. This results from the crystallographic constraints associated with the shear transformation rather than a low energy interface configuration. The lath martensite habit plane was determined to be mostly (1 1 0) or near (1 1 0). The relative populations of boundaries with [1 1 1] and [1 1 0] misorientations were greater than other high index misorientations, mostly characterized as (1 1 0) symmetric tilt and (1 1 0) twist boundary types, respectively. Analysis with homology metrics of the connectivity in the lath martensitic microstructure revealed the connectivity dominated by population of misorientation angle and boundary plane type

76 FR 32019 - Notice of Receipt of Petition for Decision That Nonconforming 2008-2010 M&V GmbH Siegmar Fzb...

Science.gov (United States)

2011-06-02

... achieve compliance with the standard. Standard No. 121 Air brake systems: The ABS braking diagnostic... Fzb trailers that were not originally manufactured to comply with all applicable Federal Motor Vehicle... search the Docket for new material. FOR FURTHER INFORMATION CONTACT: Coleman Sachs, Office of Vehicle...

Preanesthetic Assessment of Herbal and Dietary Supplement Use

Science.gov (United States)

2000-10-01

in the U.S. in 1995 were echinacea, garlic, goldenseal, ginseng, ginkgo, saw palmetto, ma huang, aloe, Siberian ginseng, and cranberry . Since then, St...should be avoided by patients taking prednisone and in patients with manic- depressive disorders and psychosis (Miller, 1998). Fishman, Catarau, Sachs

J-GLOBAL MeSH Dictionary: AB変異型Tay‐Sachs病 [MeCab user dictionary for science technology term[Archive

Lifescience Database Archive (English)

Full Text Available MeCab user dictionary for science technology term AB変異型Tay‐Sachs病 名詞 一般 * * * * AB変異...型Tay‐Sachs病 ... MeSH D049290 200906052904481110 C LS51 UNKNOWN_2 A B 変異 型 Tay ‐ Sachs 病

Problematising development in sustainability: epistemic justice ...

African Journals Online (AJOL)

The paper draws on the work of Wolfgang Sachs (1999) who asserts that the notion of sustainability has been consumed by development, presenting a view of sustainability which challenges the current and dominant economically driven hegemonic development discourse in which sustainability has become embedded.

Review Essay

African Journals Online (AJOL)

Jenny

repeat Sachs's words) 'be captured, measured, analysed and evaluated' by any ... social change can be constructed, reconstructed and deconstructed through a .... The reconstruction of popular media/culture in post-apartheid South Africa, and its ..... the parallels with South Africa's transition, Krog reiterates:'The mouth.

Eficiência de Inseticidas no Controle de Pragas em Sementes e Mudas de Pau-rosa (Aniba rosaeodora Ducke, em Viveiros, Manaus, Amazonas Inseticides efficiency on pest control of rosewood (Aniba rosaeodora Ducke seeds and seedling in greenhouse, Manaus, Amazonas

Directory of Open Access Journals (Sweden)

José Wellington Morais

2009-09-01

Full Text Available O pau-rosa (Aniba rosaeodora é conhecido pela presença do álcool linalol, que fornece um odor forte e perfumado em todas as partes da planta. A sua exploração na Amazônia ao longo dos últimos anos, para utilização do linalol como fixador de perfumes, coloca o pau-rosa em risco de extinção, a sua frutificação irregular aumenta a dificuldade em se obter sementes para a produção de mudas e, além disso, parte de sua produção é perdida face ao ataque de pragas nas sementes. Em razão desses fatores o presente estudo teve como objetivo realizar a aplicação de inseticidas nas sementes e mudas em viveiro a fim de evitar ou minimizar o ataque de pragas, aumentando, assim, a produção de mudas. Utilizou-se um total de 300 sementes, distribuídas em 2 tratamentos e 1 testemunha. Cada tratamento (n = 100 foi constituído por 4 repetições (bandejas com 25 sementes. O inseticida utilizado nos tratamentos foi acetamiprid e fipronil nas concentrações de 0,09 mg/planta e 0,18 mg/planta, respectivamente, para o tratamento 1 (T1 e o tratamento 2 (T2, distribuídos na forma de sachês. O T1 recebeu a aplicação de 1 sachê e o T2 a aplicação de dois sachês, enterrados com areia lavada nas sementeiras. Para avaliar os resultados foi feita uma análise de Variância (ANOVA, usando o programa Systat 9 e as médias comparadas pelo teste de Tukey em nível de 5%. As taxas de germinação foram: testemunha com 62%; T1 com 73% e T2 com 79%. Houve ataque de insetos em sementes apenas na testemunha com 23% do total (n = 100 e os resultados foram estatisticamente significativos (F = 31,263; p The rosewood tree (Aniba rosaeodora Ducke is known for its linalool which provides a strong, fragrant smell in all parts of the plant. Due to its exploitation in the Amazon for its linalool in the use of perfumes, the rosewood is in danger of extinction. Its irregular fruiting increases the difficulty in obtaining seeds for producing seedlings and, in

Speculative values and courtroom contestations

NARCIS (Netherlands)

de Goede, M.

2015-01-01

This article examines the trial of former Goldman Sachs employee Fabrice Tourre, who was held liable for securities fraud in 2013, and asks what it tells us about postcrisis understanding of politics and critique. What does it mean to hold Tourre individually liable amid the complex

All projects related to mexico | Page 3 | IDRC - International ...

International Development Research Centre (IDRC) Digital Library (Canada)

Development luminaries like Jeffrey Sachs and Muhammad Yunus espouse the ... The Role of Civil Society in Influencing Public Health Policy for Indigenous Women ... Tobacco Taxes and Tobacco Control Policies in Brazil, Mexico, and Uruguay ... of Sahara, South of Sahara, Central Asia, Far East Asia, South Asia, Russia.

Emptying the Nest: Launching Your Young Adult toward Success and Self-Reliance

Science.gov (United States)

Sachs, Brad E.

2010-01-01

In today's rapidly changing world and challenging economy, young adults increasingly find themselves at a crossroads between financial and emotional dependence and autonomy. Drawing on Dr. Sachs' extensive clinical experience and his illuminating discussion of the latest psychological research, "Emptying the Nest" will support parents in their…

Corruption, Development and the Curse of Natural Resources

NARCIS (Netherlands)

Pendergast, S.M.; Clarke, J.A.; Kooten, van G.C.

2011-01-01

In 1995, Jeffrey Sachs and Andrew Warner found a negative relationship between natural resources and economic growth, and claimed that natural resources are a curse. Their work has been widely cited, with many economists now accepting the curse of natural resources as a welldocumented explanation of

Predicting malaria in an highly endemic country using clinical and ...

International Development Research Centre (IDRC) Digital Library (Canada)

Kate Zinszer

evaluate statistical models that integrate environmental and clinical data to .... was to identify and assess forecasting methods used to forecast malaria, and ...... 3Children's Hospital Informatics Program at the Harvard-MIT Division of Health Sciences and ...... Sachs J, Malaney P. The economic and social burden of malaria.

78 FR 68107 - Order Exempting Broker-Dealers Participating in the Proposed Global Offering of Meridian Energy...

Science.gov (United States)

2013-11-13

...''), Deutsche Bank AG, New Zealand Branch/Craigs Investment Partners Limited, Goldman Sachs New Zealand and... and Australia, and installment and partly paid structures have been used in numerous other transactions in New Zealand and Australia in recent years. Conclusion It is therefore ordered, that Joint Lead...

Investing against the wind : contagion during the recent financial crisis

NARCIS (Netherlands)

Lu, Liping; Wang, Chunyang

2016-01-01

This article examines the effect of Warren Buffett’s investment in Goldman Sachs on 24 September 2008, during the subprime mortgage crisis. Although this event is arguably perceived to be the biggest expression of confidence in the financial market during the crisis, by conducting event studies, we

Energy costs and performance of transfemoral amputees and non-amputees during walking and running: A pilot study.

Science.gov (United States)

Mengelkoch, Larry J; Kahle, Jason T; Highsmith, M Jason

2017-10-01

Limited information is available concerning the effects of prosthetic foot components on energy costs and ambulatory performance for transfemoral amputees. Compare energy costs (VO 2 ; gait economy) and ambulatory performance (self-selected walking speeds, self-selected running speeds, peak running speeds) differences during walking and running for transfemoral amputees and matched, non-amputee runners. Repeated measures. Transfemoral amputees were accommodated and tested with three prosthetic feet: conventional foot, solid-ankle cushioned heel (SACH); energy storing and return foot, Renegade; and running-specific energy storing and return foot, Nitro. During walking, VO 2 was similar between transfemoral amputees but was increased compared to controls. Self-selected walking speeds were slower for SACH compared to Renegade and Nitro. For transfemoral amputees, gait economy was decreased and self-selected walking speeds were slower compared to controls. During fixed running speeds, transfemoral amputees ran using Nitro, and VO 2 was greater compared to controls. Transfemoral amputees ran at self-selected running speeds using Renegade and Nitro. Self-selected running speeds were slower for Renegade compared to Nitro. For transfemoral amputees, gait economy was decreased and self-selected running speeds were slower compared to controls. VO 2 peak was similar between transfemoral amputees and controls, but controls achieved greater peak running speeds and % grade. Energy costs were greater and ambulatory performance was lower for transfemoral amputees compared to matched, non-amputee controls for all prosthetic foot conditions. Clinical relevance Both types of energy storing and return feet may improve walking performance for transfemoral amputees by providing faster self-selected walking speeds. For transfemoral amputees interested in performing vigorous running (exercise and running competition), clinicians should recommend a running-specific energy storing and

Epitaxial growth of Co(0 0 0 1)hcp/Fe(1 1 0)bcc magnetic bi-layer films on SrTiO3(1 1 1) substrates

International Nuclear Information System (INIS)

Ohtake, Mitsuru; Shikada, Kouhei; Kirino, Fumiyoshi; Futamoto, Masaaki

2008-01-01

Co(0 0 0 1) hcp /Fe(1 1 0) bcc epitaxial magnetic bi-layer films were successfully prepared on SrTiO 3 (1 1 1) substrates. The crystallographic properties of Co/Fe epitaxial magnetic bi-layer films were investigated. Fe(1 1 0) bcc soft magnetic layer grew epitaxially on SrTiO 3 (1 1 1) substrate with two type variants, Nishiyama-Wasserman and Kurdjumov-Sachs relationships. An hcp-Co single-crystal layer is obtained on Ru(0 0 0 1) hcp interlayer, while hcp-Co layer formed on Au(1 1 1) fcc or Ag(1 1 1) fcc interlayer is strained and may involve fcc-Co phase. It has been shown possible to prepare Co/Fe epitaxial magnetic bi-layer films which can be usable for patterned media application

SLAP lesions: Anatomy, clinical presentation, MR imaging diagnosis and characterization

Energy Technology Data Exchange (ETDEWEB)

Chang, Debra [University of California San Diego, Department of Radiology, 200 W. Arbor Drive, San Diego, CA 92103 (United States); VA Healthcare System San Diego, Department of Radiology, 3350 La Jolla Village Drive, La Jolla, CA 92161 (United States); MedRay Imaging and Fraser Health Authority, Vancouver, BC (Canada)], E-mail: cbchung@ucsd.edu; Mohana-Borges, Aurea; Borso, Maya; Chung, Christine B. [University of California San Diego, Department of Radiology, 200 W. Arbor Drive, San Diego, CA 92103 (United States); VA Healthcare System San Diego, Department of Radiology, 3350 La Jolla Village Drive, La Jolla, CA 92161 (United States)

2008-10-15

ABSTRACT: Superior labral anterior posterior (SLAP) tears are an abnormality of the superior labrum usually centered on the attachment of the long head of the biceps tendon. Tears are commonly caused by repetitive overhead motion or fall on an outstretched arm. SLAP lesions can lead to shoulder pain and instability. Clinical diagnosis is difficult thus imaging plays a key diagnostic role. The normal anatomic variability of the capsulolabral complex can make SLAP lesions a diagnostic challenge. Concurrent shoulder injuries are often present including rotator cuff tears, cystic changes or marrow edema in the humeral head, capsular laxity, Hill-Sachs or Bankart lesion. The relevant anatomy, capsulolabral anatomic variants, primary and secondary findings of SLAP tears including MR arthrography findings, types of SLAP lesions and a practical approach to labral lesions are reviewed.

Anisotropic cosmological models and generalized scalar tensor theory

Indian Academy of Sciences (India)

Abstract. In this paper generalized scalar tensor theory has been considered in the background of anisotropic cosmological models, namely, axially symmetric Bianchi-I, Bianchi-III and Kortowski–. Sachs space-time. For bulk viscous fluid, both exponential and power-law solutions have been stud- ied and some assumptions ...

Anisotropic cosmological models and generalized scalar tensor theory

Indian Academy of Sciences (India)

In this paper generalized scalar tensor theory has been considered in the background of anisotropic cosmological models, namely, axially symmetric Bianchi-I, Bianchi-III and Kortowski–Sachs space-time. For bulk viscous fluid, both exponential and power-law solutions have been studied and some assumptions among the ...

Interdisciplinarity in pragmatics and linguistics

DEFF Research Database (Denmark)

Mey, Jacob L.

2017-01-01

At the Second International Conference ‘Zeichen und System der Sprache’ (Magdeburg, September 1964), a certain East German professor took the floor during a discussion of one of the linguistic presentations. He started his comments by saying: ‘Als Mathematiker weiß ich zwar von der Sache nichts...

Human genetics in Johannesburg, South Africa: Past, present and ...

African Journals Online (AJOL)

Genetic screening was then initiated for the Jewish community because of their high carrier rate for Tay-Sachs disease. Educational courses in human genetics were offered at Wits Medical School, and medical as well as other health professionals began to be trained. Research, supported by national and international ...

Challenges in diagnosis and counseling of a family with two ...

African Journals Online (AJOL)

... of specific investigations, metabolic specialized labs and the deficiency of documentation. 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.

Genetic Counseling in Mental Retardation.

Science.gov (United States)

Bowen, Peter

The task of the genetic counselor who identifies genetic causes of mental retardation and assists families to understand risk of recurrence is described. Considered are chromosomal genetic disorders such as Down's syndrome, inherited disorders such as Tay-Sachs disease, identification by testing the amniotic fluid cells (amniocentresis) in time…

English in Africa - Vol 40, No 1 (2013)

African Journals Online (AJOL)

Revelation and Legitimation in Albie Sachs's The Strange Alchemy of Life and Law · EMAIL FULL TEXT EMAIL FULL TEXT DOWNLOAD FULL TEXT DOWNLOAD FULL ... Versions of Hospitality in Recent Writing on the Fiction of J. M. Coetzee · EMAIL FULL TEXT EMAIL FULL TEXT DOWNLOAD FULL TEXT DOWNLOAD ...

Emergence of the product of constant curvature spaces in loop quantum cosmology

International Nuclear Information System (INIS)

Dadhich, Naresh; Joe, Anton; Singh, Parampreet

2015-01-01

The loop quantum dynamics of Kantowski–Sachs spacetime and the interior of higher genus black hole spacetimes with a cosmological constant has some peculiar features not shared by various other spacetimes in loop quantum cosmology. As in the other cases, though the quantum geometric effects resolve the physical singularity and result in a non-singular bounce, after the bounce a spacetime with small spacetime curvature does not emerge in either the subsequent backward or the forward evolution. Rather, in the asymptotic limit the spacetime manifold is a product of two constant curvature spaces. Interestingly, though the spacetime curvature of these asymptotic spacetimes is very high, their effective metric is a solution to Einstein’s field equations. Analysis of the components of the Ricci tensor shows that after the singularity resolution, the Kantowski–Sachs spacetime leads to an effective metric which can be interpreted as the ‘charged’ Nariai, while the higher genus black hole interior can similarly be interpreted as an anti Bertotti–Robinson spacetime with a cosmological constant. These spacetimes are ‘charged’ in the sense that the energy–momentum tensor that satisfies Einstein’s field equations is formally the same as the one for the uniform electromagnetic field, albeit it has a purely quantum geometric origin. The asymptotic spacetimes also have an emergent cosmological constant which is different in magnitude, and sometimes even its sign, from the cosmological constant in the Kantowski–Sachs and the interior of higher genus black hole metrics. With a fine tuning of the latter cosmological constant, we show that ‘uncharged’ Nariai, and anti Bertotti–Robinson spacetimes with a vanishing emergent cosmological constant can also be obtained. (paper)

Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss.

Directory of Open Access Journals (Sweden)

Volkan Seyrantepe

2010-09-01

Full Text Available Tay-Sachs disease is a severe lysosomal disorder caused by mutations in the HexA gene coding for the α-subunit of lysosomal β-hexosaminidase A, which converts G(M2 to G(M3 ganglioside. Hexa(-/- mice, depleted of β-hexosaminidase A, remain asymptomatic to 1 year of age, because they catabolise G(M2 ganglioside via a lysosomal sialidase into glycolipid G(A2, which is further processed by β-hexosaminidase B to lactosyl-ceramide, thereby bypassing the β-hexosaminidase A defect. Since this bypass is not effective in humans, infantile Tay-Sachs disease is fatal in the first years of life. Previously, we identified a novel ganglioside metabolizing sialidase, Neu4, abundantly expressed in mouse brain neurons. Now we demonstrate that mice with targeted disruption of both Neu4 and Hexa genes (Neu4(-/-;Hexa(-/- show epileptic seizures with 40% penetrance correlating with polyspike discharges on the cortical electrodes of the electroencephalogram. Single knockout Hexa(-/- or Neu4(-/- siblings do not show such symptoms. Further, double-knockout but not single-knockout mice have multiple degenerating neurons in the cortex and hippocampus and multiple layers of cortical neurons accumulating G(M2 ganglioside. Together, our data suggest that the Neu4 block exacerbates the disease in Hexa(-/- mice, indicating that Neu4 is a modifier gene in the mouse model of Tay-Sachs disease, reducing the disease severity through the metabolic bypass. However, while disease severity in the double mutant is increased, it is not profound suggesting that Neu4 is not the only sialidase contributing to the metabolic bypass in Hexa(-/- mice.

Morphological and molecular characterization, sexual reproduction, and pathogenicity of Setosphaeria rostrata isolates from rice leaf spot.

Science.gov (United States)

Kusai, Nor Azizah; Azmi, Madihah Mior Zakuan; Zainudin, Nur Ain Izzati Mohd; Yusof, Mohd Termizi; Razak, Azmi Abd

2016-09-01

Setosphaeria rostrata, a common plant pathogen causing leaf spot disease, affects a wide range of plant species, mainly grasses. Fungi were isolated from brown spots on rice leaves throughout Peninsular Malaysia, and 45 isolates were identified as Setosphaeria rostrata The isolates were then characterized using morphological and molecular approaches. The mating type was determined using PCR amplification of the mating type alleles, and isolates of opposite mating types were crossed to examine sexual reproduction. Based on nuclear ribosomal DNA ITS1-5.8S-ITS2 region (ITS) and beta-tubulin (BT2) sequences, two phylogenetic trees were constructed using the maximum likelihood method; S. rostrata was clustered in one well-supported clade. Pathogenicity tests showed that S. rostrata isolates are pathogenic, suggesting that it is the cause of the symptoms. Mating-type analyses indicated that three isolates carried the MAT1-1 allele, and the other 42 isolates carried MAT1-2 After isolates with opposite mating types were crossed on Sach's medium and incubated for 3 wk, six crosses produced pseudothecia that contained eight mature ascospores, and 12 other crosses produced numerous pseudothecia with no ascospores. To our knowledge, this is the first report on S. rostrata isolated from leaf spots on rice. © 2016 by The Mycological Society of America.

the south african constitutional court and the rule of law

African Journals Online (AJOL)

cmps073

Following Masethla's delivery of court papers to challenge the decision to suspend him as unlawful, a ... The separate concurring judgment of Sachs J is not discussed. ... and that he must assume political responsibility for the control and direction of these .... On this interpretation of the rule of law, procedural fairness is a firm.

Glutamate Receptor Aptamers and ALS

Science.gov (United States)

2008-01-01

2003b; 42(42):12358–66. uthman H, Magnusson G. High efficiency polyoma DNA transfection of chloroquine treated cells. Nucl Acids Res 1983;11(5):1295...by acetylcholine and its analogues at the frog muscle end-plate, J. Physiol. 369, 501-557. 20. Auerbach, A., and Sachs, F. (1984) Single-channel

Der französische GAV ist unrealistisch

CERN Multimedia

1984-01-01

"Seit über zwei Wochen ist bei Genf ein Arbeitskonflikt im Gang. Die Arbeiter, die für das CERN eine gigantische Forschungsanlage bauen sollen, verlangen eine bessere Entlönung. Doch das federfürende Baukonsortium will nicht darauf eingehen, und die CERN-Verantwortlichen halten sich aus der Sache raus" (1 page).

75 FR 53699 - Granting of Request for Early Termination of the Waiting Period Under the Premerger Notification...

Science.gov (United States)

2010-09-01

... status Party name 26-JUL-10 20100914 G Natural Gas Partners VIII, LP. G The Goldman Sachs Group, Inc. G... Company. G Cedar Power Corporation. G Cogentrix Operating Services Holdings LLC. G Raptor Holdings Company... International, Inc. 20100910 G Galaxy PEF Holding LLC. G Otera US Holding Inc. G CW Financial Services LLC...

Irreducible Traumatic Posterior Shoulder Dislocation

Directory of Open Access Journals (Sweden)

Blake Collier

2017-01-01

Full Text Available History of present illness: A 22-year-old male presented to the Emergency Department complaining of right shoulder pain after a motocross accident. He was traveling at approximately 10 mph around a turn when he lost control and was thrown over the handlebars, landing directly on his right shoulder. On arrival, he was holding his arm in adduction and internal rotation. An area of swelling was noted over his anterior shoulder. He was unable to abduct his shoulder. No humeral gapping was noted. He had normal neuro-vascular status distal to the injury. Significant findings: Radiographs demonstrated posterior displacement of the humeral head on the “Y” view (see white arrow and widening of the glenohumeral joint space on anterior-posterior view (see red arrow. The findings were consistent with posterior dislocation and a Hill-Sachs type deformity. Sedation was performed and reduction was attempted using external rotation, traction counter-traction. An immediate “pop” was felt during the procedure. Post-procedure radiographs revealed a persistent posterior subluxation with interlocking at posterior glenoid. CT revealed posterior dislocation with acute depressed impaction deformity medial to the biceps groove with the humeral head perched on the posterior glenoid, interlocked at reverse Hill-Sachs deformity (see blue arrow. Discussion: Posterior shoulder dislocations are rare and represent only 2% of all shoulder dislocations. Posterior shoulder dislocations are missed on initial diagnosis in more than 60% of cases.1 Posterior shoulder dislocations result from axial loading of the adducted and internally rotated shoulder, violent muscle contractions (resulting from seizures or electrocution, a direct posterior force applied to the anterior shoulder.1 Physical findings include decreased anterior prominence of the humeral head, increased palpable posterior prominence of the humeral head below the acromion, increased palpable prominence of the

Structural Evolution and Mechanisms of Fatigue in Polycrystalline Brass

DEFF Research Database (Denmark)

Carstensen, Jesper Vejlø

The plastic strain controlled fatigue behaviour of polycrystalline Cu-15%Zn and Cu-30%Zn has been investigated with the aim of studying the effect of slip mode modification by the addition of zinc to copper. It has been clearly demonstrated, that true cyclic saturation does not occur in the plastic...... type single slip. This behaviour has been described by the self-consistent Sachs-Eshelby model, which provides estimates of the CSS curve for brass polycrystals. Successive stages of primary hardening, softening and secondary hardening has been observed in the plastic strain controlled fatigue of brass....... It has been found that the primary hardening is attributed to an increase of intergranular stresses whereas the sec-ondary hardening apparently is attributed to an increase of friction stresses. Investigations of the structural evolution show that the softening behaviour can be explained by the presence...

Structural evolution and mechanisms of fatigue in polycrystalline brass

International Nuclear Information System (INIS)

Vejloe Carstensen, J.

1998-03-01

The plastic strain controlled fatigue behaviour of polycrystalline Cu-15%Zn and Cu-30%Zn has been investigated with the aim of studying the effect of slip mode modification by the addition of zinc to copper. It has been clearly demonstrated, that true cyclic saturation does not occur in the plastic strain controlled fatigue of brass. This complicates the contstruction of a cyclic stress-strain (CSS) curve and thus the comparison with copper. A method to overcome this complication has been suggested. Surface observations on fatigued brass specimens show that individual grains tend to deform by Sachs type single slip. This behaviour has been described by the self-consistent Sachs-Eshelby model, which provides estimates of the CSS curve for brass polycrystals. Successive stages of primary hardening, softening and secondary hardening has been observed in the plastic strain controlled fatigue of brass. It has been found that the primary hardening is attributed to an increase of intergranular stresses whereas the secondary hardening apparently is attributed to an increase of friction stresses. Investigations of the structural evolution show that the softening behaviour can be explained by the presence of short-range order (SRO). SRO promote the formation of extended dipole arrays which hardens the material. The formation of intense shear bands destroy the dipole arrays, which explains the cyclic softening. The present results reveal that Cu-30%Zn in a pure planar slip alloy, while Cu-15%Zn displays both planar and wavy slip. The mechanical and structural behaviour observed in brass resembles recent observations in 316L austenitic stainless steels, and the present results reveal that Cu-30%Zn and 316L have approximately the same fatigue life curve. This emphasizes brass as being a convenient model system for the industrially important austenitic steels. (au)

Reversibility of neuropathology in Tay-Sachs-related diseases.

Science.gov (United States)

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

2014-02-01

The GM2 gangliosidoses are progressive neurodegenerative disorders due to defects in the lysosomal β-N-acetylhexosaminidase system. Accumulation of β-hexosaminidases A and B substrates is presumed to cause this fatal condition. An authentic mouse model of Sandhoff disease (SD) with pathological characteristics resembling those noted in infantile GM2 gangliosidosis has been described. We have shown that expression of β-hexosaminidase by intracranial delivery of recombinant adeno-associated viral vectors to young adult SD mice can prevent many features of the disease and extends lifespan. To investigate the nature of the neurological injury in GM2 gangliosidosis and the extent of its reversibility, we have examined the evolution of disease in the SD mouse; we have moreover explored the effects of gene transfer delivered at key times during the course of the illness. Here we report greatly increased survival only when the therapeutic genes are expressed either before the disease is apparent or during its early manifestations. However, irrespective of when treatment was administered, widespread and abundant expression of β-hexosaminidase with consequent clearance of glycoconjugates, α-synuclein and ubiquitinated proteins, and abrogation of inflammatory responses and neuronal loss was observed. We also show that defects in myelination occur in early life and cannot be easily resolved when treatment is given to the adult brain. These results indicate that there is a limited temporal opportunity in which function and survival can be improved-but regardless of resolution of the cardinal pathological features of GM2 gangliosidosis, a point is reached when functional deterioration and death cannot be prevented.

78 FR 42436 - Procedures To Establish Appropriate Minimum Block Sizes for Large Notional Off-Facility Swaps and...

Science.gov (United States)

2013-07-16

... (ICE). Gold (COMEX and NYSE Liffe).. 2,500 troy oz. Goldman Sachs Commodity Index 5,000 times dollars... (NYMEX) 1,000 troy oz. PG&E Citygate Basis (ICE and 62,500 MMBtu. NYMEX). PJM Western Hub Real Time Off...). Platinum (NYMEX) 500 troy oz. Rainfall Index (CME)......... 10,000 times dollars. index. Rough Rice (CBOT...

Rebalancing food production and nature conservation; the need for design-oriented research

NARCIS (Netherlands)

Rossing, W.A.H.; Sabatier, R.; Teillard, F.; Groot, J.C.J.; Tittonell, P.A.

2016-01-01

The unprecedented impacts of humans on the Earth (e.g. Rockström et al., 2009; Sachs et al., 2010; Foley, 2011) have prompted a debate on the future of land use and, with agriculture as the major anthropogenic use, on new models of agricultural production. In addition to concerns about the eects of

Animal models of GM2 gangliosidosis: utility and limitations

Science.gov (United States)

Lawson, Cheryl A; Martin, Douglas R

2016-01-01

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. PMID:27499644

Open MR imaging of the unstable shoulder in the apprehension test position: description and evaluation of an alternative MR examination position

International Nuclear Information System (INIS)

Wintzell, G.; Larsson, S.; Larsson, H.; Zyto, K.

1999-01-01

The aim of this study was to describe and evaluate an alternative MR assessment procedure for analysis of unstable shoulders. Twelve patients with unilateral recurrent anterior shoulder dislocation had both shoulders examined. Magnetic resonance imaging was performed with an open-MR system in the apprehension position with the shoulder in 90 of abduction and maximum tolerable external rotation. Contrast enhancement was achieved with intravenous gadolinium. Correlations were made to the findings at operation. In 10 of 12 unstable shoulders the inferior glenohumeral ligament labral complex (IGHLLC) was detached from the glenoid as seen on MR and later verified during surgery. In one shoulder MR was unable to show a capsulolabral detachment that was verified at surgery, whereas in one shoulder both MR and surgical assessment revealed no soft tissue detachment (accuracy 92 %). A Hill-Sachs lesion was visualized and verified in all unstable shoulders, whereas the stable controls revealed normal IGHLLC and no Hill-Sachs lesion. Open-MRI evaluation of the shoulder in the apprehension test position may become a useful tool for the evaluation of anterior shoulder instability. (orig.)

Balancing anisotropic curvature with gauge fields in a class of shear-free cosmological models

Science.gov (United States)

Thorsrud, Mikjel

2018-05-01

We present a complete list of general relativistic shear-free solutions in a class of anisotropic, spatially homogeneous and orthogonal cosmological models containing a collection of n independent p-form gauge fields, where p\\in\\{0, 1, 2, 3\\} , in addition to standard ΛCDM matter fields modelled as perfect fluids. Here a (collection of) gauge field(s) balances anisotropic spatial curvature on the right-hand side of the shear propagation equation. The result is a class of solutions dynamically equivalent to standard FLRW cosmologies, with an effective curvature constant Keff that depends both on spatial curvature and the energy density of the gauge field(s). In the case of a single gauge field (n  =  1) we show that the only spacetimes that admit such solutions are the LRS Bianchi type III, Bianchi type VI0 and Kantowski–Sachs metric, which are dynamically equivalent to open (Keff0 ) FLRW models, respectively. With a collection of gauge fields (n  >  1) also Bianchi type II admits a shear-free solution (Keff>0 ). We identify the LRS Bianchi type III solution to be the unique shear-free solution with a gauge field Hamiltonian bounded from below in the entire class of models.

Üleilmse finantskriisi leevenemist silmapiiril veel ei paista / Erik Aru

Index Scriptorium Estoniae

Aru, Erik

2007-01-01

Maailma rahaturgudel kestab veel krediidikriis. Mitme vaatleja hinnangul näitab see, et kriis pole lahenenud ka pärast intressimäära langetamist, et tegemist on tõsise probleemiga. Investeerimispanga Goldman Sachs peaökonomist Jan Hatzius soovitab intressi veelgi vähendada. Hinnanguid kahjumi suuruse kohta. Lisad: Pangandus - pidev kriiside allikas; Euroopa keskpankureid inflatsioon ei loksuta

The Devil Wears Prada

African Journals Online (AJOL)

Adele

The film deals with the story of an uncomplicated, unsophisticated and naïve young woman, Andrea Sachs (as played by Anne Hathaway) and her move to New York and into the fashion world when she lands a job, surprisingly so, at. Runway magazine, a world leading glossy fashion publication with a world-wide following ...

Quadrupole moments of low-lying baryons with spin- , spin- , and ...

Indian Academy of Sciences (India)

2013-02-03

Feb 3, 2013 ... boson (GB), successfully explains the 'proton spin crisis' [26], hyperon β decay parame- ters [27], strangeness content in the nucleon [28], and in the N ...... ment of India (SR/S2/HEP-0028/2008) and Department of Atomic Energy, Government of India (2010/37P/48/BRNS/1445). References. [1] R G Sachs ...

Refinement Types for TypeScript

OpenAIRE

Vekris, Panagiotis; Cosman, Benjamin; Jhala, Ranjit

2016-01-01

We present Refined TypeScript (RSC), a lightweight refinement type system for TypeScript, that enables static verification of higher-order, imperative programs. We develop a formal core of RSC that delineates the interaction between refinement types and mutability. Next, we extend the core to account for the imperative and dynamic features of TypeScript. Finally, we evaluate RSC on a set of real world benchmarks, including parts of the Octane benchmarks, D3, Transducers, and the TypeScript co...

Refining types using type guards in TypeScript

NARCIS (Netherlands)

de Wolff, Ivo Gabe; Hage, J.

2017-01-01

We discuss two adaptations of the implementation of type guards and narrowing in the TypeScript compiler. The first is an improvement on the original syntax-directed implementation, and has now replaced the original one in the TypeScript compiler. It is specifically suited for the scenario in which

Type Classes for Lightweight Substructural Types

Directory of Open Access Journals (Sweden)

Edward Gan

2015-02-01

Full Text Available Linear and substructural types are powerful tools, but adding them to standard functional programming languages often means introducing extra annotations and typing machinery. We propose a lightweight substructural type system design that recasts the structural rules of weakening and contraction as type classes; we demonstrate this design in a prototype language, Clamp. Clamp supports polymorphic substructural types as well as an expressive system of mutable references. At the same time, it adds little additional overhead to a standard Damas-Hindley-Milner type system enriched with type classes. We have established type safety for the core model and implemented a type checker with type inference in Haskell.

Stemcell Information: SKIP000247 [SKIP Stemcell Database[Archive

Lifescience Database Archive (English)

Full Text Available M2-1TKB). Same patient as iTS1. iTS3. RikenBRC HPS0150| Tay-Sachs病患者由来iPS細胞。iPS1, iPS3と同じ患者（RCB0697 GM2-1TKB... disease 272800 ... 0-9 Female ... No No iPS cell line derived from Tay-Sachs' disease patient (RCB0697 G...S-SOX2/TSdeltaF, SeV18+HS-KLF4/TSdeltaF, SeV18(HNL)c-MYCQC/TSdeltaF ... Yes MEF (X-rays:5000R or MMC) 3-5x10^(5) cell...able Riken Bio Resource Center 理研BRC http://www2.brc.riken.jp/lab/cell/detail.cgi?cell_no=HPS0150&type=1&lang=en ... 遺伝子診断実施の有無不明。|HPS10150

Longitudinal Study of Neurodegenerative Disorders

Science.gov (United States)

2018-01-31

MLD; Krabbe Disease; ALD; MPS I; MPS II; MPS III; Vanishing White Matter Disease; GM3 Gangliosidosis; PKAN; Tay-Sachs Disease; NP Deficiency; Osteopetrosis; Alpha-Mannosidosis; Sandhoff Disease; Niemann-Pick Diseases; MPS IV; Gaucher Disease; GAN; GM1 Gangliosidoses; Morquio Disease; S-Adenosylhomocysteine Hydrolase Deficiency; Batten Disease; Pelizaeus-Merzbacher Disease; Leukodystrophy; Lysosomal Storage Diseases; Purine Nucleoside Phosphorylase Deficiency; Multiple Sulfatase Deficiency Disease

PROBLEMS OF APPLYING FIXED FORMULAE TO SAFETY CRITERIA AND SITE SELECTION

Energy Technology Data Exchange (ETDEWEB)

Davis, W. K.

1963-10-15

The problem of developing a formula or calculation procedure for that could more-or-less automatically indicate whether or not a nuclear plant would be considered safe at a particular location is discussed. The difficulties and impossibilities of any sach formula for making decisions on siting and safety involving large amounts of money and public safety are considered. (P.C.H.)

Probleme mit „Modernisierung als Interpretationsrahmen von sozialer Arbeit und ‚Mütterlichkeit‘“ Problems with “Modernisierung als Interpretationsrahmen von sozialer Arbeit und ‘Mütterlichkeit’” (Modernization as Interpretive Structure for Social Work and ‘Motherliness’

Directory of Open Access Journals (Sweden)

Brita Rang

2004-11-01

Full Text Available Unverändert ist das bereits 1986 von Christoph Sachße vorgelegte Buch nun ein drittes Mal, allerdings in einem anderen Verlag erschienen. Gegenstand ist die Entstehung der modernen beruflichen Sozialarbeit, die – so die These –, aus einer Verbindung von bürgerlich-kommunaler Wohlfahrtspflege und bürgerlich-konservativer Frauenbewegung hervorging. Deren ethisches Konzept der ‚geistigen Mütterlichkeit‘ habe jedoch von Beginn an in einem Spannungsverhältnis zur zunehmenden Verberuflichung und Bürokratisierung der sozialen Arbeit im Ersten Weltkrieg und der Weimarer Republik gestanden.Christoph Sachße’s 1986 work has been published for the third time in an unaltered form, albeit with a different publisher. The object of study is the origin of modern occupational social work that—according to the thesis—developed from the alliance of middle-class/municipal welfare work and the middle-class/conservative women’s movement. Their ethical concept of ‘spiritual motherliness’, however, maintained a tense relationship to the increasing bureaucratization of social work and the incorporation thereof as a mode of occupation during World War I and the Weimar Republic.

Non-adiabatic perturbations in Ricci dark energy model

International Nuclear Information System (INIS)

Karwan, Khamphee; Thitapura, Thiti

2012-01-01

We show that the non-adiabatic perturbations between Ricci dark energy and matter can grow both on superhorizon and subhorizon scales, and these non-adiabatic perturbations on subhorizon scales can lead to instability in this dark energy model. The rapidly growing non-adiabatic modes on subhorizon scales always occur when the equation of state parameter of dark energy starts to drop towards -1 near the end of matter era, except that the parameter α of Ricci dark energy equals to 1/2. In the case where α = 1/2, the rapidly growing non-adiabatic modes disappear when the perturbations in dark energy and matter are adiabatic initially. However, an adiabaticity between dark energy and matter perturbations at early time implies a non-adiabaticity between matter and radiation, this can influence the ordinary Sachs-Wolfe (OSW) effect. Since the amount of Ricci dark energy is not small during matter domination, the integrated Sachs-Wolfe (ISW) effect is greatly modified by density perturbations of dark energy, leading to a wrong shape of CMB power spectrum. The instability in Ricci dark energy is difficult to be alleviated if the effects of coupling between baryon and photon on dark energy perturbations are included

A set of simple cell processes is sufficient to model spiral cleavage.

Science.gov (United States)

Brun-Usan, Miguel; Marín-Riera, Miquel; Grande, Cristina; Truchado-Garcia, Marta; Salazar-Ciudad, Isaac

2017-01-01

During cleavage, different cellular processes cause the zygote to become partitioned into a set of cells with a specific spatial arrangement. These processes include the orientation of cell division according to: an animal-vegetal gradient; the main axis (Hertwig's rule) of the cell; and the contact areas between cells or the perpendicularity between consecutive cell divisions (Sachs' rule). Cell adhesion and cortical rotation have also been proposed to be involved in spiral cleavage. We use a computational model of cell and tissue biomechanics to account for the different existing hypotheses about how the specific spatial arrangement of cells in spiral cleavage arises during development. Cell polarization by an animal-vegetal gradient, a bias to perpendicularity between consecutive cell divisions (Sachs' rule), cortical rotation and cell adhesion, when combined, reproduce the spiral cleavage, whereas other combinations of processes cannot. Specifically, cortical rotation is necessary at the 8-cell stage to direct all micromeres in the same direction. By varying the relative strength of these processes, we reproduce the spatial arrangement of cells in the blastulae of seven different invertebrate species. © 2017. Published by The Company of Biologists Ltd.

Type inference for correspondence types

DEFF Research Database (Denmark)

Hüttel, Hans; Gordon, Andy; Hansen, Rene Rydhof

2009-01-01

We present a correspondence type/effect system for authenticity in a π-calculus with polarized channels, dependent pair types and effect terms and show how one may, given a process P and an a priori type environment E, generate constraints that are formulae in the Alternating Least Fixed......-Point (ALFP) logic. We then show how a reasonable model of the generated constraints yields a type/effect assignment such that P becomes well-typed with respect to E if and only if this is possible. The formulae generated satisfy a finite model property; a system of constraints is satisfiable if and only...... if it has a finite model. As a consequence, we obtain the result that type/effect inference in our system is polynomial-time decidable....

On the GKP and BS constructions of c-boundary

International Nuclear Information System (INIS)

Kuang Zhiquan; Liang Canbin.

1987-07-01

Two examples are presented in this paper, the first is unfavorable to the c-boundary construction given by Geroch, Kronheimer and Penrose but in favor of that given by Budic and Sachs, while the second plays an opposite role. The second example is also an example of a causally continuous spacetime with a ''really big gap'', contrary to what was believed in the literature. (author). 10 refs

La construction relative dans Chrétien de Troyes

NARCIS (Netherlands)

Fabriek, Pieter

1924-01-01

1. On peut reléguer à la syntaxe figée la construction relative avec la pronom neutre que dans feire que sages, que je sache, (au) plus tost qu'il pot, je n'ai que feire; avec le pronom adjectif qui dans il n'i a celui (nul, un seul) qui, com cil qui; en outre qui vive dans riens (om) qui vive

Traiter les causes sociales de la maladie | CRDI - Centre de ...

International Development Research Centre (IDRC) Digital Library (Canada)

28 janv. 2011 ... Cet indice permet de présenter des portraits composites de l'état de bien-être national en combinant les indicateurs purement économiques et différents autres indicateurs fondamentaux, comme l'espérance de vie, le taux d'alphabétisation et l'accès à l'éducation. La santé et l'économie selon Sachs.

Characterisation of polycrystal deformation by numerical modelling and neutron diffraction measurements

International Nuclear Information System (INIS)

Clausen, B.

1997-09-01

The deformation of polycrystals are modelled using three micron mechanic models; the Taylor model, the Sachs model and Hutchinson's self-consistent (SC) model. The predictions of the rigid plastic Taylor and Sachs models are compared with the predictions of the SC model. As expected, the results of the SC model is about half-way between the upper- and lower-bound models. The influence of the elastic anisotropy is investigated by comparing the SC predictions for aluminium, copper and a hypothetical material (Hybrid) with the elastic anisotropy of copper and the Young's modulus and hardening behaviour of aluminium. It is concluded that the effect of the elastic anisotropy is limited to the very early stages of plasticity, as the deformation pattern is almost identical for the three materials at higher strains. The predictions of the three models are evaluated by neutron diffraction measurements of elastic lattice strains in grain sub-sets within the polycrystal. The two rigid plastic models do not include any material parameters and therefore the predictions of the SC model is more accurate and more detailed than the predictions of the Taylor and Sachs models. The SC model is used to determine the most suitable reflection for technological applications of neutron diffraction, where focus is on the volume average stress state in engineering components. To be able to successfully to convert the measured elastic lattice strains for a specific reflection into overall volume average stresses, there must be a linear relation between the lattice strain of the reflection and the overall stress. According to the model predictions the 311-reflection is the most suitable reflection as it shows the smallest deviations from linearity and thereby also the smallest build-up of residual strains. The model predictions have pin pointed that the selection of the reflection is crucial for the validity of stresses calculated from the measured elastic lattice strains. (au) 14 tabs., 41

Quantification of catechins and caffeine from green tea (Camellia sinensis infusions, extract, and ready-to-drink beverages Quantificação de catequinas e cafeína do chá verde (Camellia sinensis infusão, extrato e bebida pronta

Directory of Open Access Journals (Sweden)

Rafaela Macedo Mendes De Oliveira

2012-03-01

Full Text Available This study aimed to quantify the levels of catechins and caffeine in various forms of presentation of green tea: infusion tea bags, extract, and ready-to-drink beverage and, based on their content, identify the most suitable for consumption. High Performance Liquid Chromatography (HPLC analytical method was used for the quantification of catechins and caffeine. The tea bags had the highest concentration of total catechins with 5 to 9.5% followed by the extract with 3.64 to 4.88%, and ready-to-drink green tea beverage showed low levels of catechins, from 0.14 to 0.26%. As for caffeine content, green tea extract had higher concentration (1.96 to 3.54% compared to the tea bags (1.39 to 1.57%. Tea bags were found the most suitable for consumption because it contains higher amounts of catechins and smaller amounts of caffeine.O presente estudo teve como objetivo quantificar os teores de catequinas e cafeína em diferentes formas de apresentação do chá verde -infusão, extrato e bebida pronta - e, baseado no teor destes constituintes, identificar aquela mais apropriada para consumo. A cromatografia Líquida de Alta Eficiência (CLAE foi a metodologia analítica utilizada para a quantificação das catequinas e cafeína. O chá verde sachê obteve maior concentração de catequinas totais com 5 a 9,5%, seguido do extrato com 3,64 a 4,88%, o chá verde bebida pronta apresentou baixos teores de catequinas, 0,14 a 0,26%. Quanto ao teor de cafeína, o chá verde na forma de extrato obteve maior concentração, 1,96 a 3,54%, quando comparado ao sachê, 1,39 a 1,57%. O chá verde na forma de sachê mostrou-se mais indicado para consumo por conter maiores quantidades de catequinas e menores quantidades de cafeína.

In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside.

Directory of Open Access Journals (Sweden)

Incilay Sinici

Full Text Available The hydrolysis in lysosomes of GM2 ganglioside to GM3 ganglioside requires the correct synthesis, intracellular assembly and transport of three separate gene products; i.e., the alpha and beta subunits of heterodimeric beta-hexosaminidase A, E.C. # 3.2.1.52 (encoded by the HEXA and HEXB genes, respectively, and the GM2-activator protein (GM2AP, encoded by the GM2A gene. Mutations in any one of these genes can result in one of three neurodegenerative diseases collectively known as GM2 gangliosidosis (HEXA, Tay-Sachs disease, MIM # 272800; HEXB, Sandhoff disease, MIM # 268800; and GM2A, AB-variant form, MIM # 272750. Elements of both of the hexosaminidase A subunits are needed to productively interact with the GM2 ganglioside-GM2AP complex in the lysosome. Some of these elements have been predicted from the crystal structures of hexosaminidase and the activator. Recently a hybrid of the two subunits has been constructed and reported to be capable of forming homodimers that can perform this reaction in vivo, which could greatly simplify vector-mediated gene transfer approaches for Tay-Sachs or Sandhoff diseases. A cDNA encoding a hybrid hexosaminidase subunit capable of dimerizing and hydrolyzing GM2 ganglioside could be incorporated into a single vector, whereas packaging both subunits of hexosaminidase A into vectors, such as adeno-associated virus, would be impractical due to size constraints. In this report we examine the previously published hybrid construct (H1 and a new more extensive hybrid (H2, with our documented in cellulo (live cell- based assay utilizing a fluorescent GM2 ganglioside derivative. Unfortunately when Tay-Sachs cells were transfected with either the H1 or H2 hybrid construct and then were fed the GM2 derivative, no significant increase in its turnover was detected. In vitro assays with the isolated H1 or H2 homodimers confirmed that neither was capable of human GM2AP-dependent hydrolysis of GM2 ganglioside.

One size doesn't fit all. Learning from India's fight against poverty

International Nuclear Information System (INIS)

Reddy, S.; Heuty, A.

2005-01-01

In The End of Poverty, Jeffrey Sachs rightly insists on the shared responsibilities of rich and poor countries alike to bring about global poverty reduction. Prof. Sachs, who is an advisor to United Nations Secretary-General Kofi Annan, prescribes a set of interventions specific investments in health, education and infrastructure through which to substantially reduce poverty in developing countries. He calls on developing countries to implement these interventions and calls on developed countries to triple aid from its current level of around $65 billion a year. Aid flows are now relatively unimportant to India but are still greatly important to many developing countries which have limited internal resources, especially smaller countries and those in Sub-Saharan Africa. Prof. Sachs emphasises the role that aid can play in improving conditions in these countries. How can the world best reduce poverty? A practical approach to reducing poverty must guarantee to countries the resources they need and it must allow for experimentation and learning. A system called 'peer and partner review' offers a practical solution. Countries would at a regular interval (perhaps three years) voluntarily submit their plans to reduce poverty to scrutiny by their peers other countries in similar circumstances - and their partners those from whom they receive or to whom they give development assistance. Each review committee would consist of representatives of Governments, independent experts and civil society organisations, and would be empowered to collect and analyse information and hold hearings. The review committee would assess a nation's plan in light of what has worked in the past and based on an examination of the country's present opportunities and constraints. The analysis and recommendations of a peer and partner review committee would be broadly distributed within and outside the country, thereby encouraging public education and debate. A poor country's 'needs and gaps' the

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

CERN Document Server

Ade, P.A.R.; Arnaud, M.; Ashdown, M.; Aumont, J.; Baccigalupi, C.; Banday, A.J.; Barreiro, R.B.; Bartolo, N.; Basak, S.; Battaner, E.; Benabed, K.; Benoît, A.; Benoit-Lévy, A.; Bernard, J.-P.; Bersanelli, M.; Bielewicz, P.; Bock, J.J.; Bonaldi, A.; Bonavera, L.; Bond, J.R.; Borrill, J.; Bouchet, F.R.; Bucher, M.; Burigana, C.; Butler, R.C.; Calabrese, E.; Cardoso, J.-F.; Casaponsa, B.; Catalano, A.; Challinor, A.; Chamballu, A.; Chiang, H.C.; Christensen, P.R.; Church, S.; Clements, D.L.; Colombi, S.; Colombo, L.P.L.; Combet, C.; Couchot, F.; Coulais, A.; Crill, B.P.; Curto, A.; Cuttaia, F.; Danese, L.; Davies, R.D.; Davis, R.J.; de Bernardis, P.; de Rosa, A.; de Zotti, G.; Delabrouille, J.; Désert, F.-X.; Diego, J.M.; Dole, H.; Donzelli, S.; Doré, O.; Douspis, M.; Ducout, A.; Dupac, X.; Efstathiou, G.; Elsner, F.; Enßlin, T.A.; Eriksen, H.K.; Fergusson, J.; Fernandez-Cobos, R.; Finelli, F.; Forni, O.; Frailis, M.; Fraisse, A.A.; Franceschi, E.; Frejsel, A.; Galeotta, S.; Galli, S.; Ganga, K.; Génova-Santos, R.T.; Giard, M.; Giraud-Héraud, Y.; Gjerløw, E.; González-Nuevo, J.; Górski, K.M.; Gratton, S.; Gregorio, A.; Gruppuso, A.; Gudmundsson, J.E.; Hansen, F.K.; Hanson, D.; Harrison, D.L.; Henrot-Versillé, S.; Hernández-Monteagudo, C.; Herranz, D.; Hildebrandt, S.R.; Hivon, E.; Hobson, M.; Holmes, W.A.; Hornstrup, A.; Hovest, W.; Huffenberger, K.M.; Hurier, G.; Ilić, S.; Jaffe, A.H.; Jaffe, T.R.; Jones, W.C.; Juvela, M.; Keihänen, E.; Keskitalo, R.; Kisner, T.S.; Kneissl, R.; Knoche, J.; Kunz, M.; Kurki-Suonio, H.; Lagache, G.; Lähteenmäki, A.; Lamarre, J.-M.; Langer, M.; Lasenby, A.; Lattanzi, M.; Lawrence, C.R.; Leonardi, R.; Lesgourgues, J.; Levrier, F.; Liguori, M.; Lilje, P.B.; Linden-Vørnle, M.; López-Caniego, M.; Lubin, P.M.; Ma, Y.-Z.; Macías-Pérez, J.F.; Maggio, G.; Maino, D.; Mandolesi, N.; Mangilli, A.; Marcos-Caballero, A.; Maris, M.; Martin, P.G.; Martínez-González, E.; Masi, S.; Matarrese, S.; McGehee, P.; Meinhold, P.R.; Melchiorri, A.; Mendes, L.; Mennella, A.; Migliaccio, M.; Mitra, S.; Miville-Deschênes, M.-A.; Moneti, A.; Montier, L.; Morgante, G.; Mortlock, D.; Moss, A.; Munshi, D.; Murphy, J.A.; Naselsky, P.; Nati, F.; Natoli, P.; Netterfield, C.B.; Nørgaard-Nielsen, H.U.; Noviello, F.; Novikov, D.; Novikov, I.; Oxborrow, C.A.; Paci, F.; Pagano, L.; Pajot, F.; Paoletti, D.; Pasian, F.; Patanchon, G.; Perdereau, O.; Perotto, L.; Perrotta, F.; Pettorino, V.; Piacentini, F.; Piat, M.; Pierpaoli, E.; Pietrobon, D.; Plaszczynski, S.; Pointecouteau, E.; Polenta, G.; Popa, L.; Pratt, G.W.; Prézeau, G.; Prunet, S.; Puget, J.-L.; Rachen, J.P.; Reach, W.T.; Rebolo, R.; Reinecke, M.; Remazeilles, M.; Renault, C.; Renzi, A.; Ristorcelli, I.; Rocha, G.; Rosset, C.; Rossetti, M.; Roudier, G.; Rubiño-Martín, J.A.; Rusholme, B.; Sandri, M.; Santos, D.; Savelainen, M.; Savini, G.; Schaefer, B.M.; Scott, D.; Seiffert, M.D.; Shellard, E.P.S.; Spencer, L.D.; Stolyarov, V.; Stompor, R.; Sudiwala, R.; Sunyaev, R.; Sutton, D.; Suur-Uski, A.-S.; Sygnet, J.-F.; Tauber, J.A.; Terenzi, L.; Toffolatti, L.; Tomasi, M.; Tristram, M.; Tucci, M.; Tuovinen, J.; Valenziano, L.; Valiviita, J.; Van Tent, F.; Vielva, P.; Villa, F.; Wade, L.A.; Wandelt, B.D.; Wehus, I.K.; Yvon, D.; Zacchei, A.

2016-01-01

This paper presents a study of the ISW effect from the Planck 2015 temperature and polarization data release. The CMB is cross-correlated with different LSS tracers: the NVSS, SDSS and WISE catalogues, and the Planck 2015 convergence lensing map. This cross-correlation yields a detection at $4\\,\\sigma$, where most of the signal-to-noise is due to the Planck lensing and NVSS. In fact, the ISW effect is detected only from the Planck data (through the ISW-lensing bispectrum) at $\\approx 3\\,\\sigma$, which is similar to the detection level achieved by combining the cross-correlation signal coming from all the catalogues. 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, polarization data is used to study the anomalously large ISW signal previously reported through the aperture photometry on stacked CMB features at the locat...

Planck 2013 results. XIX. The integrated Sachs-Wolfe effect

CERN Document Server

Ade, P.A.R.; Armitage-Caplan, C.; Arnaud, M.; Ashdown, M.; Atrio-Barandela, F.; Aumont, J.; Baccigalupi, C.; Banday, A.J.; Barreiro, R.B.; Bartlett, J.G.; Bartolo, N.; Battaner, E.; Benabed, K.; Benoit, A.; Benoit-Levy, A.; Bernard, J.P.; Bersanelli, M.; Bielewicz, P.; Bobin, J.; Bock, J.J.; Bonaldi, A.; Bonavera, L.; Bond, J.R.; Borrill, J.; Bouchet, F.R.; Bridges, M.; Bucher, M.; Burigana, C.; Butler, R.C.; Cardoso, J.F.; Catalano, A.; Challinor, A.; Chamballu, A.; Chiang, L.Y.; Chiang, H.C.; Christensen, P.R.; Church, S.; Clements, D.L.; Colombi, S.; Colombo, L.P.L.; Couchot, F.; Coulais, A.; Crill, B.P.; Curto, A.; Cuttaia, F.; Danese, L.; Davies, R.D.; Davis, R.J.; de Bernardis, P.; de Rosa, A.; de Zotti, G.; Delabrouille, J.; Delouis, J.M.; Desert, F.X.; Dickinson, C.; Diego, J.M.; Dolag, K.; Dole, H.; Donzelli, S.; Dore, O.; Douspis, M.; Dupac, X.; Efstathiou, G.; Ensslin, T.A.; Eriksen, H.K.; Fergusson, J.; Finelli, F.; Forni, O.; Fosalba, P.; Frailis, M.; Franceschi, E.; Frommert, M.; Galeotta, S.; Ganga, K.; Genova-Santos, R.T.; Giard, M.; Giardino, G.; Giraud-Heraud, Y.; Gonzalez-Nuevo, J.; Gorski, K.M.; Gratton, S.; Gregorio, A.; Gruppuso, A.; Hansen, F.K.; Hanson, D.; Harrison, D.; Henrot-Versille, S.; Hernandez-Monteagudo, C.; Herranz, D.; Hildebrandt, S.R.; Hivon, E.; Ho, S.; Hobson, M.; Holmes, W.A.; Hornstrup, A.; Hovest, W.; Huffenberger, K.M.; Ilic, S.; Jaffe, T.R.; Jaffe, A.H.; Jasche, J.; Jones, W.C.; Juvela, M.; Keihanen, E.; Keskitalo, R.; Kisner, T.S.; Knoche, J.; Knox, L.; Kunz, M.; Kurki-Suonio, H.; Lagache, G.; Lahteenmaki, A.; Lamarre, J.M.; Langer, M.; Lasenby, A.; Laureijs, R.J.; Lawrence, C.R.; Leahy, J.P.; Leonardi, R.; Lesgourgues, J.; Liguori, M.; Lilje, P.B.; Linden-Vornle, M.; Lopez-Caniego, M.; Lubin, P.M.; Macias-Perez, J.F.; Maffei, B.; Maino, D.; Mandolesi, N.; Mangilli, A.; Marcos-Caballero, A.; Maris, M.; Marshall, D.J.; Martin, P.G.; Martinez-Gonzalez, E.; Masi, S.; Matarrese, S.; Matthai, F.; Mazzotta, P.; Meinhold, P.R.; Melchiorri, A.; Mendes, L.; Mennella, A.; Migliaccio, M.; Mitra, S.; Miville-Deschenes, M.A.; Moneti, A.; Montier, L.; Morgante, G.; Mortlock, D.; Moss, A.; Munshi, D.; Naselsky, P.; Nati, F.; Natoli, P.; Netterfield, C.B.; Norgaard-Nielsen, H.U.; Noviello, F.; Novikov, D.; Novikov, I.; Osborne, S.; Oxborrow, C.A.; Paci, F.; Pagano, L.; Pajot, F.; Paoletti, D.; Partridge, B.; Pasian, F.; Patanchon, G.; Perdereau, O.; Perotto, L.; Perrotta, F.; Piacentini, F.; Piat, M.; Pierpaoli, E.; Pietrobon, D.; Plaszczynski, S.; Pointecouteau, E.; Polenta, G.; Ponthieu, N.; Popa, L.; Poutanen, T.; Pratt, G.W.; Prezeau, G.; Prunet, S.; Puget, J.L.; Rachen, J.P.; Racine, B.; Rebolo, R.; Reinecke, M.; Remazeilles, M.; Renault, C.; Renzi, A.; Ricciardi, S.; Riller, T.; Ristorcelli, I.; Rocha, G.; Rosset, C.; Roudier, G.; Rowan-Robinson, M.; Rubino-Martin, J.A.; Rusholme, B.; Sandri, M.; Santos, D.; Savini, G.; Schaefer, B.M.; Schiavon, F.; Scott, D.; Seiffert, M.D.; Shellard, E.P.S.; Spencer, L.D.; Starck, J.L.; Stolyarov, V.; Stompor, R.; Sudiwala, R.; Sunyaev, R.; Sureau, F.; Sutton, D.; Suur-Uski, A.S.; Sygnet, J.F.; Tauber, J.A.; Tavagnacco, D.; Terenzi, L.; Toffolatti, L.; Tomasi, M.; Tristram, M.; Tucci, M.; Tuovinen, J.; Umana, G.; Valenziano, L.; Valiviita, J.; Van Tent, B.; Varis, J.; Viel, M.; Vielva, P.; Villa, F.; Vittorio, N.; Wade, L.A.; Wandelt, B.D.; White, M.; Xia, J.Q.; Yvon, D.; Zacchei, A.; Zonca, A.

2014-01-01

Based on CMB maps from the 2013 Planck Mission data release, this paper presents the detection of the ISW effect, i.e., the correlation between the CMB and large-scale evolving gravitational potentials. The significance of detection ranges from 2 to 4 sigma, depending on which method is used. We investigate three separate approaches, which cover essentially all previous studies, as well as breaking new ground. (i) Correlation of the CMB with the Planck reconstructed gravitational lensing potential (for the first time). This detection is made using the lensing-induced bispectrum; the correlation between lensing and the ISW effect has a significance close to 2.5 sigma. (ii) Cross-correlation with tracers of LSS, yielding around 3 sigma significance, based on a combination of radio (NVSS) and optical (SDSS) data. (iii) Aperture photometry on stacked CMB fields at the locations of known large-scale structures, which yields a 4 sigma signal when using a previously explored catalogue, but shows strong discrepancies...

Planck 2013 results. XIX. The integrated Sachs-Wolfe effect

DEFF Research Database (Denmark)

Ade, P. A. R.; Aghanim, N.; Armitage-Caplan, C.

2014-01-01

they can be compared, these measurements are compatible with previous work using data from WMAP, where these scales have been mapped to the limits of cosmic variance. Planck's broader frequency coverage allows for better foreground cleaning and confirms that the signal is achromatic, which makes...

Preparation and structural characterization of FeCo epitaxial thin films on insulating single-crystal substrates

International Nuclear Information System (INIS)

Nishiyama, Tsutomu; Ohtake, Mitsuru; Futamoto, Masaaki; Kirino, Fumiyoshi

2010-01-01

FeCo epitaxial films were prepared on MgO(111), SrTiO 3 (111), and Al 2 O 3 (0001) single-crystal substrates by ultrahigh vacuum molecular beam epitaxy. The effects of insulating substrate material on the film growth process and the structures were investigated. FeCo(110) bcc films grow on MgO substrates with two type domains, Nishiyama-Wassermann (NW) and Kurdjumov-Sachs (KS) relationships. On the contrary, FeCo films grown on SrTiO 3 and Al 2 O 3 substrates include FeCo(111) bcc crystal in addition to the FeCo(110) bcc crystals with NW and KS relationships. The FeCo(111) bcc crystal consists of two type domains whose orientations are rotated around the film normal by 180 deg. each other. The out-of-plane and the in-plane lattice spacings of FeCo(110) bcc and FeCo(111) bcc crystals formed on the insulating substrates are in agreement with those of the bulk Fe 50 Co 50 (at. %) crystal with small errors ranging between +0.2% and +0.4%, showing that the strains in the epitaxial films are very small.

Prevalência das lesões associadas na luxação recidivante traumática do ombro Prevalence of lesions associated with traumatic recurrent shoulder dislocation

Directory of Open Access Journals (Sweden)

Oreste Lemos Carrazzone

2011-01-01

Full Text Available OBJETIVO: Avaliar a prevalência das lesões associadas à instabilidade anterior traumática do ombro e a relação entre o número de episódios e o tempo do início dos sintomas com a prevalência destas lesões. MÉTODO: Foram selecionados 57 pacientes com instabilidade anterior traumática do ombro, entre 18 e 40 anos, com mais de um episódio de luxação do ombro e com no mínimo, seis meses da primeira luxação, que necessitaram de cirurgia para tratamento da instabilidade. Foi realizada inspeção artroscópica em todos os pacientes para avaliação das lesões associadas. RESULTADOS: Foi avaliada a prevalência das lesões, sendo a lesão de Bankart a mais prevalente seguida pela lesão de Hill-Sachs e as lesões do manguito rotador as menos prevalentes. Não houve correlação comparando o número de episódios de luxação com a prevalência de lesões associadas. Já em relação ao tempo de sintomas, os pacientes com maior tempo de sintomas tiveram menos lesão de Hill-Sachs. CONCLUSÃO: Não foi possível afirmar que, em pacientes com instabilidade crônica do ombro, as lesões associadas aumentam com o tempo de sintomas ou com o número de episódios de luxação.OBJECTIVE: To evaluate the prevalence of lesions associated with traumatic anterior shoulder instability and the relationships between the prevalence of these lesions and the number of episodes and time since symptoms started. METHOD: Fifty-seven patients aged 18 to 40 years, with traumatic anterior shoulder instability, more than one episode of shoulder dislocation and at least six months since the first dislocation, who required surgery to treat the instability, were selected. Arthroscopic inspection was performed on all the patients to assess any associated lesions. RESULTS: The prevalence of lesions was assessed, and Bankert lesions were the most prevalent, followed by Hill-Sachs lesions, while rotator cuff injuries were the least prevalent. There was no correlation

Guarded dependent type theory with coinductive types

DEFF Research Database (Denmark)

Bizjak, Aleš; Grathwohl, Hans Bugge; Clouston, Ranald

2016-01-01

We present guarded dependent type theory, gDTT, an extensional dependent type theory with a later' modality and clock quantifiers for programming and proving with guarded recursive and coinductive types. The later modality is used to ensure the productivity of recursive definitions in a modular......, type based, way. Clock quantifiers are used for controlled elimination of the later modality and for encoding coinductive types using guarded recursive types. Key to the development of gDTT are novel type and term formers involving what we call delayed substitutions’. These generalise the applicative...... functor rules for the later modality considered in earlier work, and are crucial for programming and proving with dependent types. We show soundness of the type theory with respect to a denotational model....

Structural evolution and mechanisms of fatigue in polycrystalline brass

Energy Technology Data Exchange (ETDEWEB)

Vejloe Carstensen, J

1998-03-01

The plastic strain controlled fatigue behaviour of polycrystalline Cu-15%Zn and Cu-30%Zn has been investigated with the aim of studying the effect of slip mode modification by the addition of zinc to copper. It has been clearly demonstrated, that true cyclic saturation does not occur in the plastic strain controlled fatigue of brass. This complicates the contstruction of a cyclic stress-strain (CSS) curve and thus the comparison with copper. A method to overcome this complication has been suggested. Surface observations on fatigued brass specimens show that individual grains tend to deform by Sachs type single slip. This behaviour has been described by the self-consistent Sachs-Eshelby model, which provides estimates of the CSS curve for brass polycrystals. Successive stages of primary hardening, softening and secondary hardening has been observed in the plastic strain controlled fatigue of brass. It has been found that the primary hardening is attributed to an increase of intergranular stresses whereas the secondary hardening apparently is attributed to an increase of friction stresses. Investigations of the structural evolution show that the softening behaviour can be explained by the presence of short-range order (SRO). SRO promote the formation of extended dipole arrays which hardens the material. The formation of intense shear bands destroy the dipole arrays, which explains the cyclic softening. The present results reveal that Cu-30%Zn in a pure planar slip alloy, while Cu-15%Zn displays both planar and wavy slip. The mechanical and structural behaviour observed in brass resembles recent observations in 316L austenitic stainless steels, and the present results reveal that Cu-30%Zn and 316L have approximately the same fatigue life curve. This emphasizes brass as being a convenient model system for the industrially important austenitic steels. (au) 9 tabs., 94 ills., 177 refs.; The thesis is also available as DCAMM-R-S80 and as an electronic document on http://www.risoe.dk/rispubl

Cross-correlating CMB temperature fluctuations with high-energy γ-ray from Dark-Matter annihilation

International Nuclear Information System (INIS)

Pieri, L.

2013-01-01

In this paper we compute the Integrated Sachs-Wolfe effect due to the presence of dark-matter structures on cosmological scale. We cross-correlate the CMB temperature fluctuations with the extragalactic high-energy γ-ray flux map obtained with FERMI-LAT. We find a null signal consistent with the theory and conclude that the presence of halos and subhalos at galactic and extragalactic scale, if not excluded, will be hardly discoverable.

Risiko Likuiditas Bank dan Asset Liabilities Management

OpenAIRE

Lesmana, Iwan

2007-01-01

Uquidity is of critical importance to companies in the banking services sector. Most failures of financialintermediaries have occured in large part due to insufficient liquidity resulting from adverse circumstances.Goldman Sachs has in piace a comprehensive set of liquidity and funding policies that are intended tomaintain significant flexibility to address specific and broader industry or market liquidity events.In asset liabilities mal1agement or liquidity management, liquidity risk is mana...

Retsepte äärmise vaesuse likvideerimiseks meie eluajal / Riina Kuusik

Index Scriptorium Estoniae

Kuusik, Riina

2005-01-01

Raamatu "The end of poverty: economic Possibilities of our time" autor, ÜRO peasekretäri erinõunik prof. Jeffrey Sachs tõdeb, et esmakordselt ajaloos on praegusel põlvkonnal äärmise vaesuse likvideerimiseks arengumaades vajalikud teadmised, oskused ja vahendid. Autor paneb arenenud riikidele südamele, et arenguabi tõstmine 0,7%-ni SKP-st võib 2025. aastaks aidata 1/5 elanikkonnast nn arenguredeli esimesele pulgale

Type Families with Class, Type Classes with Family

DEFF Research Database (Denmark)

Serrano, Alejandro; Hage, Jurriaan; Bahr, Patrick

2015-01-01

Type classes and type families are key ingredients in Haskell programming. Type classes were introduced to deal with ad-hoc polymorphism, although with the introduction of functional dependencies, their use expanded to type-level programming. Type families also allow encoding type-level functions......, now as rewrite rules. This paper looks at the interplay of type classes and type families, and how to deal with shortcomings in both of them. Furthermore, we show how to use families to simulate classes at the type level. However, type families alone are not enough for simulating a central feature...... of type classes: elaboration, that is, generating code from the derivation of a rewriting. We look at ways to solve this problem in current Haskell, and propose an extension to allow elaboration during the rewriting phase....

Concrete Types for TypeScript

OpenAIRE

Richards, Gregor; Zappa Nardelli, Francesco; Vitek, Jan

2015-01-01

Typescript extends JavaScript with optional type annotations that are, by design, unsound and, that the Typescript compiler discards as it emits code. This design point preserves programming idioms developers are familiar with, and allows them to leave their legacy code unchanged, while offering a measure of static error checking in parts of the program that have type annotations. We present an alternative design for TypeScript, one where it is possible to support the same degree of dynamism,...

Computational Efficient Upscaling Methodology for Predicting Thermal Conductivity of Nuclear Waste forms

International Nuclear Information System (INIS)

Li, Dongsheng; Sun, Xin; Khaleel, Mohammad A.

2011-01-01

This study evaluated different upscaling methods to predict thermal conductivity in loaded nuclear waste form, a heterogeneous material system. The efficiency and accuracy of these methods were compared. Thermal conductivity in loaded nuclear waste form is an important property specific to scientific researchers, in waste form Integrated performance and safety code (IPSC). The effective thermal conductivity obtained from microstructure information and local thermal conductivity of different components is critical in predicting the life and performance of waste form during storage. How the heat generated during storage is directly related to thermal conductivity, which in turn determining the mechanical deformation behavior, corrosion resistance and aging performance. Several methods, including the Taylor model, Sachs model, self-consistent model, and statistical upscaling models were developed and implemented. Due to the absence of experimental data, prediction results from finite element method (FEM) were used as reference to determine the accuracy of different upscaling models. Micrographs from different loading of nuclear waste were used in the prediction of thermal conductivity. Prediction results demonstrated that in term of efficiency, boundary models (Taylor and Sachs model) are better than self consistent model, statistical upscaling method and FEM. Balancing the computation resource and accuracy, statistical upscaling is a computational efficient method in predicting effective thermal conductivity for nuclear waste form.

Spatial and null infinity via advanced and retarded conformal factors

International Nuclear Information System (INIS)

Hayward, Sean A.

2003-01-01

A new approach to space-time asymptotics is presented, refining Penrose's idea of conformal transformations with infinity represented by the conformal boundary of space-time. It is proposed that the Penrose conformal factor be a product of advanced and retarded conformal factors, which asymptotically relate physical and conformal null coordinates and vanish at future and past null infinity respectively. A refined definition of asymptotic flatness at both spatial and null infinity is given, including that the conformal boundary is locally a light cone, with spatial infinity as the vertex. It is shown how to choose the conformal factors so that this asymptotic light cone is locally a metric light cone. The theory is implemented in the spin-coefficient (or null-tetrad) formalism by a joint transformation of the spin-metric and spin-basis (or metric and tetrad). Asymptotic regularity conditions are proposed, based on the conformal boundary locally being a smoothly embedded metric light cone. These conditions ensure that the Bondi-Sachs energy-flux integrals of ingoing and outgoing gravitational radiation decay at spatial infinity such that the total radiated energy is finite, and that the Bondi-Sachs energy-momentum has a unique limit at spatial infinity, coinciding with the uniquely rendered ADM energy-momentum

Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo

Directory of Open Access Journals (Sweden)

Michael B Tropak

2016-01-01

Full Text Available Tay-Sachs or Sandhoff disease result from mutations in either the evolutionarily related HEXA or HEXB genes encoding respectively, the α- or β-subunits of β-hexosaminidase A (HexA. Of the three Hex isozymes, only HexA can interact with its cofactor, the GM2 activator protein (GM2AP, and hydrolyze GM2 ganglioside. A major impediment to establishing gene or enzyme replacement therapy based on HexA is the need to synthesize both subunits. Thus, we combined the critical features of both α- and β-subunits into a single hybrid µ-subunit that contains the α-subunit active site, the stable β-subunit interface and unique areas in each subunit needed to interact with GM2AP. To facilitate intracellular analysis and the purification of the µ-homodimer (HexM, CRISPR-based genome editing was used to disrupt the HEXA and HEXB genes in a Human Embryonic Kidney 293 cell line stably expressing the µ-subunit. In association with GM2AP, HexM was shown to hydrolyze a fluorescent GM2 ganglioside derivative both in cellulo and in vitro. Gene transfer studies in both Tay-Sachs and Sandhoff mouse models demonstrated that HexM expression reduced brain GM2 ganglioside levels.

Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo

Science.gov (United States)

Tropak, Michael B; Yonekawa, Sayuri; Karumuthil-Melethil, Subha; Thompson, Patrick; Wakarchuk, Warren; Gray, Steven J; Walia, Jagdeep S; Mark, Brian L; Mahuran, Don

2016-01-01

Tay-Sachs or Sandhoff disease result from mutations in either the evolutionarily related HEXA or HEXB genes encoding respectively, the α- or β-subunits of β-hexosaminidase A (HexA). Of the three Hex isozymes, only HexA can interact with its cofactor, the GM2 activator protein (GM2AP), and hydrolyze GM2 ganglioside. A major impediment to establishing gene or enzyme replacement therapy based on HexA is the need to synthesize both subunits. Thus, we combined the critical features of both α- and β-subunits into a single hybrid µ-subunit that contains the α-subunit active site, the stable β-subunit interface and unique areas in each subunit needed to interact with GM2AP. To facilitate intracellular analysis and the purification of the µ-homodimer (HexM), CRISPR-based genome editing was used to disrupt the HEXA and HEXB genes in a Human Embryonic Kidney 293 cell line stably expressing the µ-subunit. In association with GM2AP, HexM was shown to hydrolyze a fluorescent GM2 ganglioside derivative both in cellulo and in vitro. Gene transfer studies in both Tay-Sachs and Sandhoff mouse models demonstrated that HexM expression reduced brain GM2 ganglioside levels. PMID:26966698

Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy

Science.gov (United States)

Kano, Shin-ichi; Yuan, Ming; Cardarelli, Ross A.; Maegawa, Gustavo; Higurashi, Norimichi; Gaval-Cruz, Meriem; Wilson, Ashley M.; Tristan, Carlos; Kondo, Mari A.; Chen, Yian; Koga, Minori; Obie, Cassandra; Ishizuka, Koko; Seshadri, Saurav; Srivastava, Rupali; Kato, Takahiro A.; Horiuchi, Yasue; Sedlak, Thomas W.; Lee, Yohan; Rapoport, Judith L.; Hirose, Shinichi; Okano, Hideyuki; Valle, David; O'Donnell, Patricio; Sawa, Akira; Kai, Mihoko

2015-01-01

Methodologies for generating functional neuronal cells directly from human fibroblasts [induced neuronal (iN) cells] have been recently developed, but the research so far has only focused on technical refinements or recapitulation of known pathological phenotypes. A critical question is whether this novel technology will contribute to elucidation of novel disease mechanisms or evaluation of therapeutic strategies. Here we have addressed this question by studying Tay-Sachs disease, a representative lysosomal storage disease, and Dravet syndrome, a form of severe myoclonic epilepsy in infancy, using human iN cells with feature of immature postmitotic glutamatergic neuronal cells. In Tay-Sachs disease, we have successfully characterized canonical neuronal pathology, massive accumulation of GM2 ganglioside, and demonstrated the suitability of this novel cell culture for future drug screening. In Dravet syndrome, we have identified a novel functional phenotype that was not suggested by studies of classical mouse models and human autopsied brains. Taken together, the present study demonstrates that human iN cells are useful for translational neuroscience research to explore novel disease mechanisms and evaluate therapeutic compounds. In the future, research using human iN cells with well-characterized genomic landscape can be integrated into multidisciplinary patient-oriented research on neuropsychiatric disorders to address novel disease mechanisms and evaluate therapeutic strategies. PMID:25732146

Differentiation between solid-ankle cushioned heel and energy storage and return prosthetic foot based on step-to-step transition cost.

Science.gov (United States)

Wezenberg, Daphne; Cutti, Andrea G; Bruno, Antonino; Houdijk, Han

2014-01-01

Decreased push-off power by the prosthetic foot and inadequate roll-over shape of the foot have been shown to increase the energy dissipated during the step-to-step transition in human walking. The aim of this study was to determine whether energy storage and return (ESAR) feet are able to reduce the mechanical energy dissipated during the step-to-step transition. Fifteen males with a unilateral lower-limb amputation walked with their prescribed ESAR foot (Vari-Flex, Ossur; Reykjavik, Iceland) and with a solid-ankle cushioned heel foot (SACH) (1D10, Ottobock; Duderstadt, Germany), while ground reaction forces and kinematics were recorded. The positive mechanical work on the center of mass performed by the trailing prosthetic limb was larger (33%, p = 0.01) and the negative work performed by the leading intact limb was lower (13%, p = 0.04) when walking with the ESAR foot compared with the SACH foot. The reduced step-to-step transition cost coincided with a higher mechanical push-off power generated by the ESAR foot and an extended forward progression of the center of pressure under the prosthetic ESAR foot. Results can explain the proposed improvement in walking economy with this kind of energy storing and return prosthetic foot.

MR imaging in shoulder trauma. Value of STIR images

International Nuclear Information System (INIS)

Rand, T.; Trattnig, S.; Haller, J.; Imhof, H.; Nguyen, N.K.

1998-01-01

Purpose: To determine the adequacy of MR standard protocols by analyzing conventional T1- and T2-weighted SE sequences, and to evaluate the usefulness of additional fat-suppressed (STIR) images in shoulder trauma. Material and Methods: Paracoronal T1-weighted, T2-weighted SE, and STIR images were obtained on a 0.5 T superconductive system in 25 patients with shoulder trauma. In a separate evaluation of T1/T2 images and a combined evaluation of T1/T2 SE- and STIR images, we compared the number of patients with evidence of Hill-Sachs lesions, bone bruises, and/or rotator-cuff lesions. Results: Compared to the combined evaluation of T1/T2 and STIR images, the separate evaluation of T1/T2 SE images revealed identical results for rotator-cuff lesions and Hill-Sachs lesions, but different results for the bone bruises in the area of the major tubercle. Conclusion: Occult fractures of the major tubercle, indicated by areas of bone bruising, might be missed with MR using conventional SE images. We recommend the use of additional paracoronal fat-suppressed sequences in patients with clinically suspected lesions and equivocal findings on plain radiographs and on standard SE sequences. (orig.)

The Ukrainian Bandura as a Musical Instrument of the Chordophone Group

OpenAIRE

Dutchak, Violetta

2017-01-01

The article examines the characteristics of the bandura as a plucked chordophone. A comparative analysis of the researches undertaken by outstanding musicologists, performers, ethno-organologists S. Lyudkevych, E. Hornbostel, C. Sachs, H. Khotkevych, Z. Shtokalko, and others is carried out. The morphology of the instrument and the main stages in its evolution are discussed. The stable and mobile elements of the bandura’s structure and tuning are described. The technical characteristics of the...

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

Klebsiella Typing

DEFF Research Database (Denmark)

Hansen, D S; Skov, R; Benedí, J.V.

2002-01-01

OBJECTIVE: To compare pulsed-field gel electrophoresis (PFGE) typing and O:K-serotyping of Klebsiella in two different epidemiological settings. METHODS: One hundred and four bacteremia isolates without known epidemiological relation and 47 isolates from an outbreak in a neonatal intensive care...... unit (NICU) were K-typed by countercurrent immunoelectrophoresis (CCIE), O-typed by an inhibition enzyme-linked immunosorbent assay method, and typed by pulsed-field gel electrophoresis (PFGE) using the restriction enzyme XbaI. RESULTS: Typing data for the 104 bacteremia isolates were compared...... with regard to typability, number of types, maximum number of isolates per type, and the Discriminative Index (DI). O-typing combined with K-typing (DI 0.98) as O:K-serotyping (DI 0.99) gave a very discriminative typing system, whereas O-typing alone was not very discriminative (DI 0.76). PFGE (DI 1...

Typing is writing: Linguistic properties modulate typing execution.

Science.gov (United States)

Pinet, Svetlana; Ziegler, Johannes C; Alario, F-Xavier

2016-12-01

Typing is becoming our preferred way of writing. Perhaps because of the relative recency of this change, very few studies have investigated typing from a psycholinguistic perspective. In addition, and despite obvious similarities between typing and handwriting, typing research has remained rather disconnected from handwriting research. The current study aimed at bridging this gap by evaluating how typing is affected by a number of psycholinguistic variables defined at the word, syllable, and letter levels. In a writing-to-dictation task, we assessed typing performance by measuring response accuracy, onset latencies - an index of response preparation and initiation - and interkeystroke intervals (IKIs) - an index of response execution processes. The lexical and sublexical factors revealed a composite pattern of effects. Lexical frequency improved response latencies and accuracy, while bigram frequency speeded up IKIs. Sound-spelling consistency improved latencies, but had an inhibitory effect on IKI. IKIs were also longer at syllable boundaries. Together, our findings can be fit within a framework for typed production that combines the previously developed theories of spelling and typing execution. At their interface, we highlight the need for an intermediate hierarchical stage, perhaps in the form of a graphemic buffer for typing.

System performance and economic analysis of solar-assisted cooling/heating system

KAUST Repository

Huang, B.J.

2011-11-01

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 load to reduce the energy consumption of the air conditioner installed as the base-load cooler. A standard SACH-2 system for cooling load 3.5. kW (1. RT) and daily cooling time 10 h is used for case study. The cooling performance is assumed only in summer seasons from May to October. In winter season from November to April, only heat is supplied. Two installation locations (Taipei and Tainan) were examined.It was found from the cooling performance simulation that in order to save 50% energy of the air conditioner, the required solar collector area is 40m2 in Taipei and 31m2 in Tainan, for COPj=0.2. If the solar collector area is designed as 20m2, the solar ejector cooling system will supply about 17-26% cooling load in Taipei in summer season and about 21-27% cooling load in Tainan. Simulation for long-term performance including cooling in summer (May-October) and hot water supply in winter (November-April) was carried out to determine the monthly-average energy savings. The corresponding daily hot water supply (with 40°C temperature rise of water) for 20m2 solar collector area is 616-858L/day in Tainan and 304-533L/day in Taipei.The economic analysis shows that the payback time of SACH-2 decreases with increasing cooling capacity. The payback time is 4.8. years in Tainan and 6.2. years in Taipei when the cooling capacity >10. RT. If the ECS is treated as an additional device used as a protective equipment to avoid overheating of solar collectors and to convert the excess solar heat in summer into cooling to reduce the energy consumption of air conditioner, the payback time is less than 3 years for cooling capacity larger than 3. RT. © 2011 Elsevier Ltd.

Type Inference for Session Types in the Pi-Calculus

DEFF Research Database (Denmark)

Graversen, Eva Fajstrup; Harbo, Jacob Buchreitz; Huttel, Hans

2014-01-01

In this paper we present a direct algorithm for session type inference for the π-calculus. Type inference for session types has previously been achieved by either imposing limitations and restriction on the π-calculus, or by reducing the type inference problem to that for linear types. Our approach...

The temperature dependence of the chiral condensate in the Schwinger model with Matrix Product States

International Nuclear Information System (INIS)

Saito, H; Jansen, K.; Cichy, K.; Frankfurt Univ.; Poznan Univ.

2014-12-01

We present our recent results for the tensor network (TN) approach to lattice gauge theories. TN methods provide an efficient approximation for quantum many-body states. We employ TN for one dimensional systems, Matrix Product States, to investigate the 1-flavour Schwinger model. In this study, we compute the chiral condensate at finite temperature. From the continuum extrapolation, we obtain the chiral condensate in the high temperature region consistent with the analytical calculation by Sachs and Wipf.

Growth and development of the impala Aepyceros melampus

Directory of Open Access Journals (Sweden)

N. Fairall

1976-08-01

Full Text Available Growth and development of the prenatal impala has been described by Fairall (1969 and Roettcher, Hoffman and Kayanja (1970 while weights and measurements of the mature animal have been reported by Sachs (1967 and Talbot and McCulloch (1965. Child (1964 has investigated growth in this species. This paper serves as a baseline for comparison of future changes in morphology of the species, as the animals were all obtained at the beginning of the culling programme.

Type checking with open type functions

DEFF Research Database (Denmark)

Schrijvers, Tom; Jones, Simon Peyton; Chakravarty, Manual

2008-01-01

We report on an extension of Haskell with open type-level functions and equality constraints that unifies earlier work on GADTs, functional dependencies, and associated types. The contribution of the paper is that we identify and characterise the key technical challenge of entailment checking; an...

Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening

Science.gov (United States)

Hoffman, Jodi D; Greger, Valerie; Strovel, Erin T; Blitzer, Miriam G; Umbarger, Mark A; Kennedy, Caleb; Bishop, Brian; Saunders, Patrick; Porreca, Gregory J; Schienda, Jaclyn; Davie, Jocelyn; Hallam, Stephanie; Towne, Charles

2013-01-01

Tay-Sachs disease (TSD) is the prototype for ethnic-based carrier screening, with a carrier rate of ∼1/27 in Ashkenazi Jews and French Canadians. HexA enzyme analysis is the current gold standard for TSD carrier screening (detection rate ∼98%), but has technical limitations. We compared DNA analysis by next-generation DNA sequencing (NGS) plus an assay for the 7.6 kb deletion to enzyme analysis for TSD carrier screening using 74 samples collected from participants at a TSD family conference. Fifty-one of 74 participants had positive enzyme results (46 carriers, five late-onset Tay-Sachs [LOTS]), 16 had negative, and seven had inconclusive results. NGS + 7.6 kb del screening of HEXA found a pathogenic mutation, pseudoallele, or variant of unknown significance (VUS) in 100% of the enzyme-positive or obligate carrier/enzyme-inconclusive samples. NGS detected the B1 allele in two enzyme-negative obligate carriers. Our data indicate that NGS can be used as a TSD clinical carrier screening tool. We demonstrate that NGS can be superior in detecting TSD carriers compared to traditional enzyme and genotyping methodologies, which are limited by false-positive and false-negative results and ethnically focused, limited mutation panels, respectively, but is not ready for sole use due to lack of information regarding some VUS. PMID:24498621

Primary versus revision arthroscopic reconstruction with remplissage for shoulder instability with moderate bone loss.

Science.gov (United States)

McCabe, Michael P; Weinberg, Douglas; Field, Larry D; O'Brien, Michael J; Hobgood, E Rhett; Savoie, Felix H

2014-04-01

This study aims to evaluate our outcomes of arthroscopic remplissage in this setting. A retrospective review was performed to identify patients who underwent arthroscopic remplissage of an engaging Hill-Sachs lesion along with anterior capsulolabral reconstruction for anterior glenohumeral instability with moderate glenohumeral bone loss at our institution. Thirty-five patients, with a minimum of 2 years' follow-up, were identified. We assessed the American Shoulder and Elbow Surgeons score, incidence of recurrent instability, and postoperative Rowe instability score. Follow-up was available for 30 patients (31 shoulders). The mean age was 24.6 years, with a mean follow-up period of 41 months. Prior instability surgery had failed in 11 patients, and they underwent capsulolabral reconstruction and remplissage ("revision surgery"). The failure rate in revision cases (36%) was significantly higher than the failure rate in primary surgery cases (0%) (P = .01). Failure resulted from trauma in all 4 patients, and none required further surgery. The mean American Shoulder and Elbow Surgeons score for all patients improved from 50 preoperatively to 91 postoperatively (P instability patients with moderate bone loss and engaging humeral Hill-Sachs lesions yields acceptable outcomes for primary instability surgery. However, a significantly higher failure rate occurred when arthroscopic reconstruction with remplissage was performed in the revision setting. Level IV, therapeutic case series. Copyright © 2014 Arthroscopy Association of North America. All rights reserved.

Updating signal typing in voice: addition of type 4 signals.

Science.gov (United States)

Sprecher, Alicia; Olszewski, Aleksandra; Jiang, Jack J; Zhang, Yu

2010-06-01

The addition of a fourth type of voice to Titze's voice classification scheme is proposed. This fourth voice type is characterized by primarily stochastic noise behavior and is therefore unsuitable for both perturbation and correlation dimension analysis. Forty voice samples were classified into the proposed four types using narrowband spectrograms. Acoustic, perceptual, and correlation dimension analyses were completed for all voice samples. Perturbation measures tended to increase with voice type. Based on reliability cutoffs, the type 1 and type 2 voices were considered suitable for perturbation analysis. Measures of unreliability were higher for type 3 and 4 voices. Correlation dimension analyses increased significantly with signal type as indicated by a one-way analysis of variance. Notably, correlation dimension analysis could not quantify the type 4 voices. The proposed fourth voice type represents a subset of voices dominated by noise behavior. Current measures capable of evaluating type 4 voices provide only qualitative data (spectrograms, perceptual analysis, and an infinite correlation dimension). Type 4 voices are highly complex and the development of objective measures capable of analyzing these voices remains a topic of future investigation.

Is type-D personality trait(s or state? An examination of type-D temporal stability in older Israeli adults in the community

Directory of Open Access Journals (Sweden)

Ada H. Zohar

2016-02-01

Full Text Available Background. Type D personality was suggested as a marker of poorer prognosis for patients of cardiovascular disease. It is defined by having a score of 10 or more on both sub-scales of the DS14 questionnaire, Social Inhibition (SI and Negative Affectivity (NA. As Type D was designed to predict risk, its temporal stability is of prime importance. Methods. Participants in the current study were 285 community volunteers, who completed the DS14, and other personality scales, at a mean interval of six years. Results. The prevalence of Type D did not change. The component traits of Type D showed rank order stability. Type D caseness temporal stability was improved by using the sub-scales product as a criterion. Logistic hierarchical regression predicting Type D classification from Time1 demonstrated that the best predictors were Time1 scores on NA and SI, with the character trait of Cooperation, and the alexithymia score adding some predictive power. Conclusions. The temporal stability of the component traits, and of the prevalence of Type D were excellent. Temporal stability of Type D caseness may be improved by using a product threshold, rather than the current rule. Research is required in order to formulate the optimal timing for Type D measurement for predictive purposes.

Blood typing

Science.gov (United States)

... detect these minor antigens. It is done before transfusions, except in emergency situations. Alternative Names Cross matching; Rh typing; ABO blood typing; Blood group; Anemia - immune hemolytic blood type; ...

Molecular typing of methicillin-resistant Staphylococcus aureus: Comparison of PCR-based open reading frame typing, multilocus sequence typing, and Staphylococcus protein A gene typing.

Science.gov (United States)

Ogihara, Shinji; Saito, Ryoichi; Sawabe, Etsuko; Kozakai, Takahiro; Shima, Mari; Aiso, Yoshibumi; Fujie, Toshihide; Nukui, Yoko; Koike, Ryuji; Hagihara, Michio; Tohda, Shuji

2018-04-01

The recently developed PCR-based open reading frame typing (POT) method is a useful molecular typing tool. Here, we evaluated the performance of POT for molecular typing of methicillin-resistant Staphylococcus aureus (MRSA) isolates and compared its performance to those of multilocus sequence typing (MLST) and Staphylococcus protein A gene typing (spa typing). Thirty-seven MRSA isolates were collected between July 2012 and May 2015. MLST, spa typing, and POT were performed, and their discriminatory powers were evaluated using Simpson's index analysis. The MRSA isolates were classified into 11, 18, and 33 types by MLST, spa typing, and POT, respectively. The predominant strains identified by MLST, spa typing, and POT were ST8 and ST764, t002, and 93-191-127, respectively. The discriminatory power of MLST, spa typing, and POT was 0.853, 0.875, and 0.992, respectively, indicating that POT had the highest discriminatory power. Moreover, the results of MLST and spa were available after 2 days, whereas that of POT was available in 5 h. Furthermore, POT is rapid and easy to perform and interpret. Therefore, POT is a superior molecular typing tool for monitoring nosocomial transmission of MRSA. Copyright © 2017 Japanese Society of Chemotherapy and The Japanese Association for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

Type classes for mathematics in type theory

OpenAIRE

Spitters, Bas; Van der Weegen, Eelis

2011-01-01

The introduction of first-class type classes in the Coq system calls for re-examination of the basic interfaces used for mathematical formalization in type theory. We present a new set of type classes for mathematics and take full advantage of their unique features to make practical a particularly flexible approach formerly thought infeasible. Thus, we address both traditional proof engineering challenges as well as new ones resulting from our ambition to build upon this development a library...

On the GKP and BS constructions of the c-boundary

International Nuclear Information System (INIS)

Kuang zhi-quan; Liang can-bin

1988-01-01

Two examples are presented in this paper, the first is unfavorable to the c-boundary construction given by Geroch, Kronheimer, and Penrose [Proc. R. Soc. London Ser. A 327, 545 (1972)] but in favor of that given by Budic and Sachs [J. Math. Phys. 15, 1302 (1974)], while the second plays an opposite role. The second example is also an example of a causally continuous space-time with a ''really big gap,'' contrary to what was believed in the literature

Performance of optimised prosthetic ankle designs that are based on a hydraulic variable displacement actuator (VDA)

OpenAIRE

Gardiner, JD; Bari, AZ; Kenney, LPJ; Twiste, M; Moser, D; Zahedi, S; Howard, D

2017-01-01

Current energy storage and return (ESR) prosthetic\\ud feet only marginally reduce the cost of amputee locomotion\\ud compared to basic solid ankle cushioned heel (SACH) feet,\\ud possibly due to their lack of push-off at the end of stance. To our knowledge, a prosthetic ankle that utilises a hydraulic variable displacement actuator (VDA) to improve push-off performance has not previously been proposed. Therefore, here we report a design optimisation and simulation feasibility study for a VDA ba...

Emergent pedagogy of sustainability

DEFF Research Database (Denmark)

Husted, Mia; Frøkjær, Thorleif

of societal life. Most often, the experimental activities tends to favor learning about responsible behavior, but the intension was formation of critical curiosity. While the difficulties to find pedagogical forms to present sustainability frustrate the participating pedagogues, the teachers teaching student.......S. Nielsen, N. Sriskandarajah, & E. Gunnarsson (eds) (2016). Commons, Sustainability, Democratization: Action Research and the Basic Renewal of Society. New York. RoutledgeLewin, K. (1948). Resolving Social Conflicts. New York, Harper and RowSachs, W. (1999). Planet dialectics. Explorations in Environment...

Nanoprecipitates in single-crystal molybdenum-alloy nanopillars detected by TEM and atom probe tomography

International Nuclear Information System (INIS)

Oveisi, Emad; Bártová, Barbora; Gerstl, Stephan; Zimmermann, Julien; Marichal, Cécile; Van Swygenhoven, Helena; Hébert, Cécile

2013-01-01

Transmission electron microscopy (TEM) supported by various chemical analyses techniques as well as atom probe tomography is applied to characterize newly identified nanosized precipitates in Mo-alloy nanopillars that were prepared by directional solidification. It is shown that the α-Mo matrix contains Al-enriched face-centred cubic precipitates which have a 4.12 Å lattice parameter, and exhibit a Kurdjumov–Sachs crystallographic orientation relationship with the matrix. Such precipitates could be responsible for the unusual behaviour of the pillars during compression tests

Luminescence dynamics in type-II GaAs/AlAs superlattices near the type-I to type-II crossover

DEFF Research Database (Denmark)

Langbein, Wolfgang Werner; Kalt, H.; Hvam, Jørn Märcher

1996-01-01

We report on a study of the time-resolved luminescence of type-II GaAs/AlAs superlattices near the type-I to type-II crossover. In spite of the slight type-II band alignment, the luminescence is dominated by the type-I transition. This is due to the inhomogeneous broadening of the type-I transiti...

Several types of types in programming languages

OpenAIRE

Martini, Simone

2015-01-01

Part 2: Regular Submissions; International audience; Types are an important part of any modern programming language, but we often forget that the concept of type we understand nowadays is not the same it was perceived in the sixties. Moreover, we conflate the concept of " type " in programming languages with the concept of the same name in mathematical logic, an identification that is only the result of the convergence of two different paths, which started apart with different aims. The paper...

Types and Automata

DEFF Research Database (Denmark)

Schwartzbach, Michael Ignatieff; Meineche Smidt, Erik

A hierarchical type system for imperative programming languages gives rise to various computational problems, such as type equivalence, type ordering, etc. We present a particular class of finite automata which are shown to be isomorphic to type equations. All the relevant type concepts turn out...... to have well-known automata analogues, such as language equality, language inclusion, etc. This provides optimal or best known algorithms for the type system, by a process of translating type equations to automata, solving the analogous problem, and translating the result back to type equations. Apart...

IL-10 dependent suppression of type 1, type 2 and type 17 cytokines in active pulmonary tuberculosis.

Directory of Open Access Journals (Sweden)

Nathella Pavan Kumar

Full Text Available Although Type 1 cytokine responses are considered protective in pulmonary tuberculosis (PTB, their role as well as those of Type 2, 17 and immunoregulatory cytokines in tuberculous lymphadenitis (TBL and latent tuberculosis (LTB have not been well studied.To identify cytokine responses associated with pulmonary tuberculosis (TB, TB lymphadenitits and latent TB, we examined mycobacterial antigen-specific immune responses of PTB, TBL and LTB individuals. More specifically, we examined ESAT-6 and CFP-10 induced Type 1, Type 2 and Type 17 cytokine production and their regulation using multiplex ELISA.PTB individuals exhibited a significantly lower baseline as well as antigen-specific production of Type 1 (IFNγ, TNFα and IL-2; Type 2 (IL-4 and Type 17 (IL-17A and IL-17F cytokines in comparison to both TBL and LTB individuals. TBL individuals exhibited significantly lower antigen-specific IFNγ responses alone in comparison to LTB individuals. Although, IL-10 levels were not significantly higher, neutralization of IL-10 during antigen stimulation resulted in significantly enhanced production of IFNγ, IL-4 and IL-17A in PTB individuals, indicating that IL-10 mediates (at least partially the suppression of cytokine responses in PTB.Pulmonary TB is characterized by an IL-10 dependent antigen-specific suppression of Type 1, Type 2 and Type 17 cytokines, reflecting an important association of these cytokines in the pathogenesis of active TB.

Hand functions in type 1 and type 2 diabetes mellitus

Directory of Open Access Journals (Sweden)

Akpinar Pinar

2017-01-01

Full Text Available Introduction/Objective. Hand functions have an enormous impact on activities of daily living in patients with diabetes mellitus (DM, such as self-care, administering insulin injections, and preparing and eating meals. The aim of the study was to evaluate hand functions and grip strength in patients with type 1 and type 2 DM. Methods. This was an observational case-control study investigating the hand functions and grip strength in patients with type 1 and type 2 DM. The study comprised 41 patients with type 1 DM aged 25–50 years sex- and age-matched, 40 non-diabetic controls, and 91 patients with type 2 DM aged 40–65 years sex- and age-matched 60 non-diabetic controls. Patients with documented history of diabetic sensorimotor neuropathy and adhesive capsulitis were excluded. The Duruoz Hand Index was used to assess the functional hand disability. Grip strength was tested with a calibrated Jamar dynamometer. Results. The Duruoz Hand Index scores in patients with type 2 DM were significantly higher than in persons in the control group (p 0.05. Grip strength values of patients with type 1 DM were significantly lower compared to those in the control group (p < 0.05, whereas there was no significant difference between patients with type 2 DM and their control group. There was a negatively significant correlation between grip strength and the Duruoz Hand Index scores in patients with both type 1 and type 2 DM (p < 0.05. Conclusion. Patients with type 1 DM and type 2 DM have different degrees of hand disability as compared to healthy control groups.

Annotated Bibliography on Human Factors in Software Development

Science.gov (United States)

1979-06-01

THE HISTORY IS AN ANALYSIS OF THE IMPACT OF SACH DECISION O THE SOFTWARE DEVELOPED FOR THF SYSTEM A4 0D ON THE LIFE -CYCLE Of THE SOFTWARE. FINALLY, A...BUT NOT ITS SIZE. WE ALLOCATE RESOURCES (COSTS) OVER THE PROJECT’S LIFE CYCLE FROM THE STRUCTURAL FORECASTS. JUDGMENT, TECHNICAL KNOWLEDGE, AND... UIVERSITY , UXBRIDGE, ENGLAND 337, 339 BUREAU OF THE CENSUS, WASHINGTON, DC M99 5URR3UGHS CORP., GOLETA, CA 28 CAINE, FA*PER, X GORDON, INC. 146 CA•RdIDGE

Performance driven IT management five practical steps to business success

CERN Document Server

Sachs, Ira

2011-01-01

This book argues that the Federal Government needs a new approach to IT management. Introducing a novel five-step process called performance-driven management (PDM), author Ira Sachs explains in detail how to reduce risk on large IT programs and projects. This is an essential tool for all IT and business managers in government and contractors doing business with the government, and it has much useful and actionable information for anyone who is interested in helping their business save money and take on effective, successful practices.

Anthropometric and Mass Distribution Characteristics of the Adult Female. Revised

Science.gov (United States)

1983-09-01

on the side of the body or body segment, or otherwise not visible to the cameras , were marked with offset targets. W hen the markers were in place...Korpers and seiner Glieder. Abh. d. Math. Phys. Cl. d. K. Sachs. Gesell . d. Wiss., 18(8):409-492. Leipzig Chandler, R.F., C.E. Clauser, J.T. McConville...with a sticker. Those landmarks which were on the sides of the body or segment, and thus not visible to the camera , were also marked with an offset

Analýza vybraného segmentu ICT: analýza trhu e-commerce

OpenAIRE

Kožušník, Martin

2011-01-01

This work focuses on market analysis of e-Commerce in the "broad" concept. The main goal is to provide a comprehensive view of e-Commerce market in segments B2B, B2C, C2C, C2B including paid and open source e-Commerce platforms. Capture the current state of market leaders in various segments. The analysis used a freely available analysis published by analytical (eg Euromonitor, Goldman Sachs, internetretailer.com), statistical data from the ČSÚ, Eurostat. To determine the market leaders have ...

MR imaging of white-matter diseases in children

International Nuclear Information System (INIS)

Sato, Y.; Yuh, W.T.C.; Mathews, K.; Wiese, J.; Kao, S.; Schreiber, A.; Farner, R.; Smith, W.

1987-01-01

MR imaging has become a valuable tool in the investigation of central nervous system abnormalities in children. This exhibit displays the MR imaging patterns in 30 children with diseases involving the white matter. Clinical, CT, and pathologic findings will be presented for comparison. The white matter disease entities studies include acquired white matter diseases, metabolic diseases, and phycomatoses. Specific examples include acute dissemination encephalomyelitis, anoxic encephalopathy, disseminated necrotizing leukoencephalopathy, demyelinating adrenoleukodystrophy, Krabbe disease, metachromatic leukodystrophy, Tay-Sachs disease, Gaucher disease, neurofibromatosis, and Sturge-Weber syndrome

Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening

OpenAIRE

Hoffman, Jodi D; Greger, Valerie; Strovel, Erin T; Blitzer, Miriam G; Umbarger, Mark A; Kennedy, Caleb; Bishop, Brian; Saunders, Patrick; Porreca, Gregory J; Schienda, Jaclyn; Davie, Jocelyn; Hallam, Stephanie; Towne, Charles

2013-01-01

Tay-Sachs disease (TSD) is the prototype for ethnic-based carrier screening, with a carrier rate of ∼1/27 in Ashkenazi Jews and French Canadians. HexA enzyme analysis is the current gold standard for TSD carrier screening (detection rate ∼98%), but has technical limitations. We compared DNA analysis by next-generation DNA sequencing (NGS) plus an assay for the 7.6 kb deletion to enzyme analysis for TSD carrier screening using 74 samples collected from participants at a TSD family conference. ...

Generalized frame of reference with null congruence

International Nuclear Information System (INIS)

Ferrarese, G.; Antonelli, R.

2000-01-01

The paper derives the main properties of a generalized frame of reference with a null congruence (light flux), by means of adapted non-holonomic techniques; then it studies the geometry of the space-time in terms of non-orthogonal projection: longitudinal and transverse covariant derivatives and corresponding commutation formulae, decomposition of the Riemann and gravitational tensors, lie derivatives of the Ricci rotation coefficients, transverse Bianchi identity. Application to the (absolute and relative) light flux: kinematical characteristics and screen, Sachs theorems etc. are also given

Derivados de aminociclitoles, procedimiento de obtención y usos

OpenAIRE

Díaz Bueno, Lucía; Casas Brugulat, Josefina; Bujons Vilàs, Jordi; Egido Gabás, Meritxell; Delgado Cirilo, Antonio; Llebaria, Amadeu

2009-01-01

La presente invención se refiere a los compuestos de fórmula general (1) ya sus usos como composiciones farmacéuticas para el tratamiento de enfermedades relacionadas con la acumulación lisosomal de esfingolípidos, tales como la enfermedad de Gaucher, la enfermedad de TaySachs, la enfermedad de Sandhoff, la enfermedad de Fabry, la enfermedad de Niemann-Pick, leucodistrofia metacromática y la enfermedad de Krabbe. Además, la invención se refiere al procedimiento de obte...

The MAT/TOCO Measurement of the Angular Power Spectrum of the Cosmic Microwave Background at 30 and 40 GHz

Science.gov (United States)

Nolta, M. R.; Devlin, M. J.; Dorwart, W. B.; Miller, A. D.; Page, L. A.; Puchalla, J.; Torbet, E.; Tran, H. T.

2003-11-01

We present a measurement of the angular spectrum of the cosmic microwave background from l=26 to 225 from the 30 and 40 GHz channels of the MAT/TOCO experiment based on two seasons of observations. At comparable frequencies, the data extend to a lower l than the recent Very Small Array and DASI results. After accounting for known foreground emission in a self-consistent analysis, a rise from the Sachs-Wolfe plateau to a peak of δTl~80 μK near l~200 is observed.

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...

Phage typing or CRISPR typing for epidemiological surveillance of Salmonella Typhimurium?

Science.gov (United States)

Mohammed, Manal

2017-11-07

Salmonella Typhimurium is the most dominant Salmonella serovar around the world. It is associated with foodborne gastroenteritis outbreaks but has recently been associated with invasive illness and deaths. Characterization of S. Typhimurium is therefore very crucial for epidemiological surveillance. Phage typing has been used for decades for subtyping of S. Typhimurium to determine the epidemiological relation among isolates. Recent studies however have suggested that high throughput clustered regular interspaced short palindromic repeats (CRISPR) typing has the potential to replace phage typing. This study aimed to determine the efficacy of high-throughput CRISPR typing over conventional phage typing in epidemiological surveillance and outbreak investigation of S. Typhimurium. In silico analysis of whole genome sequences (WGS) of well-documented phage types of S. Typhimurium reveals the presence of different CRISPR type among strains belong to the same phage type. Furthermore, different phage types of S. Typhimurium share identical CRISPR type. Interestingly, identical spacers were detected among outbreak and non-outbreak associated DT8 strains of S. Typhimurium. Therefore, CRISPR typing is not useful for the epidemiological surveillance and outbreak investigation of S. Typhimurium and phage typing, until it is replaced by WGS, is still the gold standard method for epidemiological surveillance of S. Typhimurium.

Solar Type II Radio Bursts and IP Type II Events

Science.gov (United States)

Cane, H. V.; Erickson, W. C.

2005-01-01

We have examined radio data from the WAVES experiment on the Wind spacecraft in conjunction with ground-based data in order to investigate the relationship between the shocks responsible for metric type II radio bursts and the shocks in front of coronal mass ejections (CMEs). The bow shocks of fast, large CMEs are strong interplanetary (IP) shocks, and the associated radio emissions often consist of single broad bands starting below approx. 4 MHz; such emissions were previously called IP type II events. In contrast, metric type II bursts are usually narrowbanded and display two harmonically related bands. In addition to displaying complete dynamic spectra for a number of events, we also analyze the 135 WAVES 1 - 14 MHz slow-drift time periods in 2001-2003. We find that most of the periods contain multiple phenomena, which we divide into three groups: metric type II extensions, IP type II events, and blobs and bands. About half of the WAVES listings include probable extensions of metric type II radio bursts, but in more than half of these events, there were also other slow-drift features. In the 3 yr study period, there were 31 IP type II events; these were associated with the very fastest CMEs. The most common form of activity in the WAVES events, blobs and bands in the frequency range between 1 and 8 MHz, fall below an envelope consistent with the early signatures of an IP type II event. However, most of this activity lasts only a few tens of minutes, whereas IP type II events last for many hours. In this study we find many examples in the radio data of two shock-like phenomena with different characteristics that occur simultaneously in the metric and decametric/hectometric bands, and no clear example of a metric type II burst that extends continuously down in frequency to become an IP type II event. The simplest interpretation is that metric type II bursts, unlike IP type II events, are not caused by shocks driven in front of CMEs.

Tension Type Headache: Evaluation of Chronic Type

Directory of Open Access Journals (Sweden)

Ömer Karadaş

2013-11-01

Full Text Available Tension type headache(TTH which is a primary headache has episodic and chronic forms. Episodic TTH (ETTH can also be frequent-type and non-frequent-type. According to population-based studies, annual prevalence rates are 38.3% for ETTH and 2.2% for chronic TTH (CTTH. Patients can shift between the sub-groups of TTH. In particular, patients with ETTH are at risk of developing CTTH. Peripheral and central nociceptive mechanism are thought to be responsible in occurrence of TTH. Psychiatric disorders are frequently associated with TTH. Although basic and combined analgesics are used in acute treatment and antidepresants are used in prophylaxis, new treatment modalities are needed.

Differing causes of pregnancy loss in type 1 and type 2 diabetes.

Science.gov (United States)

Cundy, Tim; Gamble, Greg; Neale, Leonie; Elder, Rose; McPherson, Paul; Henley, Patrick; Rowan, Janet

2007-10-01

Women with type 2 and type 1 diabetes have differing risk factors for pregnancy loss. We compared the rates and causes of pregnancy loss in women with type 1 and type 2 diabetes. We utilized prospectively collected data on all pregnancies in a 20-year period (1986-2005) from a single center with a high prevalence of type 2 diabetes. Pregnancy losses included terminations for medical reasons and deaths up to 1 month postpartum but not spontaneous pregnancy losses pregnancies in women with known diabetes (330 with type 1 and 540 with type 2 diabetes) and 325 in women with diabetes diagnosed in pregnancy but persisting postpartum (97% type 2 diabetes). The rate of pregnancy loss was similar in type 1 and type 2 diabetes (2.6 vs. 3.7%, P = 0.39), but the causes of pregnancy loss differed. In type 1 diabetes >75% were attributable to major congenital anomalies or prematurity; in type 2 diabetes >75% were attributable to stillbirth or chorioamnionitis (P = 0.017). Women with type 2 and type 1 diabetes had similar A1C at presentation and near term, but the former were older (P causes of pregnancy loss in women with type 1 and type 2 diabetes. The higher rates of stillbirth in women with type 2 diabetes, suggest that other features, such as obesity, contribute significantly to pregnancy losses.

Innate-Type and Acquired-Type Allergy Regulated by IL-33

Directory of Open Access Journals (Sweden)

Tomohiro Yoshimoto

2014-01-01

Full Text Available We propose two types of allergic response: IgE-dependent and IgE-independent, and designate these as 'acquired-type allergy' and 'innate-type allergy', respectively. IL-33 stimulates both innate (basophils, mast cells, or group 2 innate lymphoid cells and acquired (Th2 cells allergy-related cells to induce and/or augment Th2 cytokine production, which leads to eosinophilic inflammation in vivo. Thus, IL-33 is an essential regulator for both 'innate-type allergy' and 'acquired-type allergy', and might be an attractive therapeutic target for allergic diseases.

Type 1 or Type 2 Diabetes and Pregnancy

Science.gov (United States)

... and Pregnancy Articles Type 1 or Type 2 Diabetes and Pregnancy Language: English (US) Español (Spanish) Recommend on Facebook Tweet Share Compartir Problems of Diabetes in Pregnancy Blood sugar that is not well ...

Discriminating the reaction types of plant type III polyketide synthases.

Science.gov (United States)

Shimizu, Yugo; Ogata, Hiroyuki; Goto, Susumu

2017-07-01

Functional prediction of paralogs is challenging in bioinformatics because of rapid functional diversification after gene duplication events combined with parallel acquisitions of similar functions by different paralogs. Plant type III polyketide synthases (PKSs), producing various secondary metabolites, represent a paralogous family that has undergone gene duplication and functional alteration. Currently, there is no computational method available for the functional prediction of type III PKSs. We developed a plant type III PKS reaction predictor, pPAP, based on the recently proposed classification of type III PKSs. pPAP combines two kinds of similarity measures: one calculated by profile hidden Markov models (pHMMs) built from functionally and structurally important partial sequence regions, and the other based on mutual information between residue positions. pPAP targets PKSs acting on ring-type starter substrates, and classifies their functions into four reaction types. The pHMM approach discriminated two reaction types with high accuracy (97.5%, 39/40), but its accuracy decreased when discriminating three reaction types (87.8%, 43/49). When combined with a correlation-based approach, all 49 PKSs were correctly discriminated, and pPAP was still highly accurate (91.4%, 64/70) even after adding other reaction types. These results suggest pPAP, which is based on linear discriminant analyses of similarity measures, is effective for plant type III PKS function prediction. pPAP is freely available at ftp://ftp.genome.jp/pub/tools/ppap/. goto@kuicr.kyoto-u.ac.jp. Supplementary data are available at Bioinformatics online. © The Author(s) 2017. Published by Oxford University Press.

Greenberger-Horne-Zeilinger-type and W-type entangled coherent states: Generation and Bell-type inequality tests without photon counting

International Nuclear Information System (INIS)

Jeong, Hyunseok; Nguyen Ba An

2006-01-01

We study Greenberger-Horne-Zeilinger-type (GHZ-type) and W-type three-mode entangled coherent states. Both types of entangled coherent states violate Mermin's version of the Bell inequality with threshold photon detection (i.e., without photon counting). Such an experiment can be performed using linear optics elements and threshold detectors with significant Bell violations for GHZ-type entangled coherent states. However, to demonstrate Bell-type inequality violations for W-type entangled coherent states, additional nonlinear interactions are needed. We also propose an optical scheme to generate W-type entangled coherent states in free-traveling optical fields. The required resources for the generation are a single-photon source, a coherent state source, beam splitters, phase shifters, photodetectors, and Kerr nonlinearities. Our scheme does not necessarily require strong Kerr nonlinear interactions; i.e., weak nonlinearities can be used for the generation of the W-type entangled coherent states. Furthermore, it is also robust against inefficiencies of the single-photon source and the photon detectors

Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P

Directory of Open Access Journals (Sweden)

Lahey Cora

2006-08-01

Full Text Available Abstract Background Gaucher disease is a potentially severe lysosomal storage disorder caused by mutations in the human glucocerebrosidase gene (GBA. We have developed a multiplexed genetic assay for eight diseases prevalent in the Ashkenazi population: Tay-Sachs, Gaucher type I, Niemann-Pick types A and B, mucolipidosis type IV, familial dysautonomia, Canavan, Bloom syndrome, and Fanconi anemia type C. This assay includes an allelic determination for GBA allele c.1448T>C (L444P. The goal of this study was to clinically evaluate this assay. Methods Biotinylated, multiplex PCR products were directly hybridized to capture probes immobilized on fluorescently addressed microspheres. After incubation with streptavidin-conjugated fluorophore, the reactions were analyzed by Luminex IS100. Clinical evaluations were conducted using de-identified patient DNA samples. Results We evaluated a multiplexed suspension array assay that includes wild-type and mutant genetic determinations for Gaucher disease allele c.1448T>C. Two percent of samples reported to be wild-type by conventional methods were observed to be c.1448T>C heterozygous using our assay. Sequence analysis suggested that this phenomenon was due to co-amplification of the functional gene and a paralogous pseudogene (ΨGBA due to a polymorphism in the primer-binding site of the latter. Primers for the amplification of this allele were then repositioned to span an upstream deletion in the pseudogene, yielding a much longer amplicon. Although it is widely reported that long amplicons negatively impact amplification or detection efficiency in recently adopted multiplex techniques, this assay design functioned properly and resolved the occurrence of false heterozygosity. Conclusion Although previously available sequence information suggested GBA gene/pseudogene discrimination capabilities with a short amplified product, we identified common single-nucleotide polymorphisms in the pseudogene that

Types of intersections.

NARCIS (Netherlands)

2015-01-01

There are many types of intersections in the Netherlands. In an inherently safe road traffic system, however, the number of intersection types needs to be limited, depending on the road types that intersect. The desired types of intersections do not always correspond with the recommendations in the

Equational type logic

NARCIS (Netherlands)

Manca, V.; Salibra, A.; Scollo, Giuseppe

1990-01-01

Equational type logic is an extension of (conditional) equational logic, that enables one to deal in a single, unified framework with diverse phenomena such as partiality, type polymorphism and dependent types. In this logic, terms may denote types as well as elements, and atomic formulae are either

Application of DNA Machineries for the Barcode Patterned Detection of Genes or Proteins.

Science.gov (United States)

Zhou, Zhixin; Luo, Guofeng; Wulf, Verena; Willner, Itamar

2018-06-05

The study introduces an analytical platform for the detection of genes or aptamer-ligand complexes by nucleic acid barcode patterns generated by DNA machineries. The DNA machineries consist of nucleic acid scaffolds that include specific recognition sites for the different genes or aptamer-ligand analytes. The binding of the analytes to the scaffolds initiate, in the presence of the nucleotide mixture, a cyclic polymerization/nicking machinery that yields displaced strands of variable lengths. The electrophoretic separation of the resulting strands provides barcode patterns for the specific detection of the different analytes. Mixtures of DNA machineries that yield, upon sensing of different genes (or aptamer ligands), one-, two-, or three-band barcode patterns are described. The combination of nucleic acid scaffolds acting, in the presence of polymerase/nicking enzyme and nucleotide mixture, as DNA machineries, that generate multiband barcode patterns provide an analytical platform for the detection of an individual gene out of many possible genes. The diversity of genes (or other analytes) that can be analyzed by the DNA machineries and the barcode patterned imaging is given by the Pascal's triangle. As a proof-of-concept, the detection of one of six genes, that is, TP53, Werner syndrome, Tay-Sachs normal gene, BRCA1, Tay-Sachs mutant gene, and cystic fibrosis disorder gene by six two-band barcode patterns is demonstrated. The advantages and limitations of the detection of analytes by polymerase/nicking DNA machineries that yield barcode patterns as imaging readout signals are discussed.

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.

Doonorfond on vaesuse, mitte Iraagi pärast / Jeffrey D. Sachs

Index Scriptorium Estoniae

Sachs, Jeffrey D.

2003-01-01

Autor leiab, et Iraagi pikaajaline ülesehitamine ei vaja finantsabi välismaalt, vaid poliitilist reguleerimist, mis pole võimalik niikaua, kui USA jääb Iraagis okupatsioonijõuks. USA taotletav raha tuleks aga suunata ülemaailmsete hädade, nagu AIDS ja nälg, vastu võitlemiseks.

CT findings of muscular dystrophy; Limb girdle type (LG), myotonic type (MYD) and Duchenne type (DMD)

Energy Technology Data Exchange (ETDEWEB)

Saitoh, Hiroshi (Tokushima Univ. (Japan). School of Medicine)

1991-07-01

CT scans of muscles in patients with limb girdle type (LG), myotonic type (MYD) and Duchenne type (DMD) dystrophies were obtained at five different body levels: the neck, L3 vertebral body, pelvic girdle, thigh and lower leg. CT numbers, cross sectional areas (CSA) and %CSA of muscle or fat were evaluated in each muscle. The characteristic CT patterns for each type of muscular dystrophy were obtained. Compared with DMD, the gracilis and soleus were more severely damaged in LG and the biceps femoris remained relatively preserved among the hamstrings. In addition, the multifidus of the neck and sternocleidomastoid also were more severely damaged in MYD. This study suggests that CT scan will be useful in the differential diagnosis of these types of muscular dystrophy as well as in planning appropriate rehabilitation and detecting damaged muscles. (author).

Thinking about gender types: cognitive organization of female and male types.

Science.gov (United States)

Vonk, Roos; Ashmore, Richard D

2003-06-01

We examined the content and dimensional structure of a large and representative sample of gender types. In Study 1, using an open-ended procedure, participants generated 306 different labels for female types (e.g. housewife, feminist, femme fatale, secretary, slob) and 310 for male types (e.g. workaholic, family man, sissy, womanizer, labourer). In Study 2A, a multidimensional configuration of 229 of these male and female types was derived from a free sorting task among a new set of participants. In Study 2B, a subset of types was judged on several dimensions of meaning, which were then fitted into the configuration of types. The most important dimensions in describing the structure of gender types were: young-old, masculine-feminine and traditional-modern. The masculine-feminine dimension showed that the male and female types were largely separated from each other; within each gender category, the types were ordered by their position on the masculine-feminine dimension. Several other aspects of current thinking about men and women are discussed.

Guarded Cubical Type Theory

DEFF Research Database (Denmark)

Birkedal, Lars; Bizjak, Aleš; Clouston, Ranald

2016-01-01

This paper improves the treatment of equality in guarded dependent type theory (GDTT), by combining it with cubical type theory (CTT). GDTT is an extensional type theory with guarded recursive types, which are useful for building models of program logics, and for programming and reasoning...... with coinductive types. We wish to implement GDTT with decidable type-checking, while still supporting non-trivial equality proofs that reason about the extensions of guarded recursive constructions. CTT is a variation of Martin-L\\"of type theory in which the identity type is replaced by abstract paths between...... terms. CTT provides a computational interpretation of functional extensionality, is conjectured to have decidable type checking, and has an implemented type-checker. Our new type theory, called guarded cubical type theory, provides a computational interpretation of extensionality for guarded recursive...

Guarded Cubical Type Theory

DEFF Research Database (Denmark)

Birkedal, Lars; Bizjak, Aleš; Clouston, Ranald

2016-01-01

This paper improves the treatment of equality in guarded dependent type theory (GDTT), by combining it with cubical type theory (CTT). GDTT is an extensional type theory with guarded recursive types, which are useful for building models of program logics, and for programming and reasoning...... with coinductive types. We wish to implement GDTT with decidable type checking, while still supporting non-trivial equality proofs that reason about the extensions of guarded recursive constructions. CTT is a variation of Martin-L\\"of type theory in which the identity type is replaced by abstract paths between...... terms. CTT provides a computational interpretation of functional extensionality, enjoys canonicity for the natural numbers type, and is conjectured to support decidable type-checking. Our new type theory, guarded cubical type theory (GCTT), provides a computational interpretation of extensionality...

Gravitational Waves from Isolated Systems: Surprising Consequences of a Positive Cosmological Constant.

Science.gov (United States)

Ashtekar, Abhay; Bonga, Béatrice; Kesavan, Aruna

2016-02-05

There is a deep tension between the well-developed theory of gravitational waves from isolated systems and the presence of a positive cosmological constant Λ, however tiny. In particular a generalization of Einstein's 1918 quadrupole formula that would allow a positive Λ is not yet available. We first explain the principal difficulties and then show that it is possible to overcome them in the weak field limit. These results also provide concrete hints for constructing the Λ>0 generalization of the Bondi-Sachs framework for full, nonlinear general relativity.

Martensitic transformation of pure iron at a grain boundary: Atomistic evidence for a two-step Kurdjumov-Sachs–Pitsch pathway

Energy Technology Data Exchange (ETDEWEB)

Meiser, Jerome; Urbassek, Herbert M., E-mail: urbassek@rhrk.uni-kl.de [Physics Department and Research Center OPTIMAS, University Kaiserslautern, Erwin-Schrödinger-Straße, D-67663 Kaiserslautern (Germany)

2016-08-15

Using classical molecular dynamics simulations and the Meyer-Entel interaction potential, we study the martensitic transformation pathway in a pure iron bi-crystal containing a symmetric tilt grain boundary. Upon cooling the system from the austenitic phase, the transformation starts with the nucleation of the martensitic phase near the grain boundary in a plate-like arrangement. The Kurdjumov-Sachs orientation relations are fulfilled at the plates. During further cooling, the plates expand and merge. In contrast to the orientation relation in the plate structure, the complete transformation proceeds via the Pitsch pathway.

Detection of local non-Gaussianity with future observations

International Nuclear Information System (INIS)

Li Hong; Liu Jie

2012-01-01

In this Letter we estimate the primordial non-Gaussianity (PNG) by simulating future observations. We use the Large Sky Area Multi-Object Fiber Spectroscopic Telescope (LAMOST) as an example and focus on the cross correlation signal between the galaxies and the Integrate Sachs-Wolfe (ISW) effect of CMB. Our result is optimistical. It shows the potential of LAMOST, particularly its quasar survey, in probing for the PNG by ISW - galaxy cross correlation. This study is particularly relevant because LAMOST is almost parallel to the timetable of the upcoming high precision Planck satellite.

Martensitic transformation of pure iron at a grain boundary: Atomistic evidence for a two-step Kurdjumov-Sachs–Pitsch pathway

International Nuclear Information System (INIS)

Meiser, Jerome; Urbassek, Herbert M.

2016-01-01

Using classical molecular dynamics simulations and the Meyer-Entel interaction potential, we study the martensitic transformation pathway in a pure iron bi-crystal containing a symmetric tilt grain boundary. Upon cooling the system from the austenitic phase, the transformation starts with the nucleation of the martensitic phase near the grain boundary in a plate-like arrangement. The Kurdjumov-Sachs orientation relations are fulfilled at the plates. During further cooling, the plates expand and merge. In contrast to the orientation relation in the plate structure, the complete transformation proceeds via the Pitsch pathway.

Derivatives of aminocyclitols, obtainment procedure and uses

OpenAIRE

Llebaria, Amadeu; Casas Brugulat, Josefina; Egido Gabás, Meritxell; Díaz Bueno, Lucía; Bujons Vilàs, Jordi

2009-01-01

[ES] La presente invención se refiere a los compuestos de fórmula general (I) y a sus usos como composiciones farmacéuticas para el tratamiento de enfermedades relacionadas con la acumulación lisosomal de esfingolípidos, tales como la enfermedad de Gaucher, la enfermedad de Tay-Sachs, la enfermedad de Sandhoff, la enfermedad de Fabry, la enfermedad de Niemann- Pick, leucodistrofia metacromática y la enfermedad de Krabbe. Además, la invención se refiere al procedimiento de obtenció...

Tensionless superstrings: view from the worldsheet

Energy Technology Data Exchange (ETDEWEB)

Bagchi, Arjun [Center for Theoretical Physics, Massachusetts Institute of Technology,77 Massachusetts Avenue, Cambridge, MA 02139 (United States); Indian Institute of Technology Kanpur,Kanpur 208016 (India); Chakrabortty, Shankhadeep [Van Swinderen Institute for Particle Physics and Gravity, University of Groningen, Nijenborgh 4, 9747 AG Groningen (Netherlands); Parekh, Pulastya [Indian Institute of Technology Kanpur,Kanpur 208016 (India); Indian Institute of Science Education and Research,Dr Homi Bhabha Road, Pashan. Pune 411008, Iindia (India)

2016-10-21

In this brief note, we show that the residual symmetries that arise in the analysis of the tensionless superstrings in the equivalent of the conformal gauge is (a trivial extension of) the recently discovered 3d Super Bondi-Metzner-Sachs algebra, discussed in the context of asymptotic symmetries of 3d Supergravity in flat-spacetimes. This helps us uncover a limiting approach to the construction of the tensionless superstring from the point of view of the worldsheet, analogous to the one we had adopted earlier for the closed tensionless bosonic string.

Desenvolvimento territorial : estudo de caso no Centro Sul Vale do Salgado

OpenAIRE

Arruda, Chrístian Dárlio Brito

2014-01-01

O objetivo deste trabalho foi analisar a política de territorialização do Centro Sul Vale do Salgado no Estado do Ceará, sob a ótica das dimensões do ecodesenvolvimento segundo Sachs (2002), considerando o Plano Territorial de Desenvolvimento Rural Sustentável (PTDRS). As dimensões do ecodesenvolvimento são social; econômica; ecológica; espacial; e cultural. Neste território foi constituído o Colegiado Territorial composto por 142 entidades, sendo, 94 integrantes da sociedade c...

Spain and Mexico

OpenAIRE

Cerrato Lara, Maria; Castelló, Montserrat; Garcia Velazquez, Regina; Lonka, Kirsti

2017-01-01

Thesis work is the first important research where the PhD candidate has to take primary responsibility for their work. Sometimes it is forgotten, or at least not enough attention is paid to the fact, that for many PhD students it is also the first time they have to face such a complex, ultimately self-regulated learning task (Sachs, 2002, p.99) as thesis writing. But what do the protagonists think about it? There is a gap in the literature concerning studies that focus on PhD students’ writin...

A Type System For Certified Runtime Type Analysis

Science.gov (United States)

2002-12-01

1999 ACM SIGPLAN International Conf. on Functional Pro- gramming (ICFP’99), pages 183–196. ACM Press, September 1999. [Min97] Yasuhiko Minamide. Full...lifting of type parameters. Technical report, RIMS, Kyoto University, 1997. [MMH96] Yasuhiko Minamide, Greg Morrisett, and Robert Harper. Typed

Guarded Type Promotion

DEFF Research Database (Denmark)

Winther, Johnni

2011-01-01

conditional using the instanceof operator and thus the cast type is redundantly mentioned twice. We propose a new typing rule for Java called Guarded Type Promotion aimed at eliminating the need for the explicit casts when guarded. This new typing rule is backward compatible and has been fully implemented...... in a Java 6 compiler. Through our extensive testing of real-life code we show that guarded casts account for approximately one fourth of all casts and that Guarded Type Promotion can eliminate the need for 95 percent of these guarded casts....

Facts about Type 2

Medline Plus

Full Text Available ... Alert Day Diabetes Basics Home Symptoms Diagnosis America's Diabetes Challenge Type 1 Type 2 Facts About Type 2 Enroll in ... Where Do I Begin With Type2? Living With Type 1 Diabetes Enroll in the Living WIth Type 2 Diabetes ...

Type 2 diabetes

Science.gov (United States)

... type 2 diabetes; Oral hypoglycemic - type 2 diabetes; High blood sugar - type 2 diabetes ... your kidneys are working well ( microalbuminuria and serum creatinine ). Visit your eye doctor at least once a ...

Ceramide content is higher in type I compared to type II fibers in obesity and type 2 diabetes mellitus

DEFF Research Database (Denmark)

Kristensen, Ditte Bech; Prats Gavalda, Clara; Larsen, Steen

2012-01-01

This study investigated fiber-type-specific muscle ceramide content in obese subjects and type 2 diabetes patients. Two substudies, one which compared type 2 diabetes patients to both lean- and obese BMI-matched subjects and the other study which compared lean body-matched post-obese, obese......, and control subjects, were performed. A fasting blood sample was obtained and plasma insulin and glucose determined. A muscle biopsy was obtained from deltoideus and vastus lateralis, and fiber-type ceramide content was determined by fluorescence immunohistochemistry. Insulin sensitivity estimated by Quicki...... index was higher in lean compared to type 2 diabetes patients and obese controls. Also in control and post-obese subjects, a higher insulin sensitivity was observed compared to obese subjects. Ceramide content was consistently higher in type I than in type II muscle fibers and higher in deltoideus than...

Hybrid type I-type II superconducting behavior in magnesium diboride

International Nuclear Information System (INIS)

Kunchur, M.N.; Saracila, G.; Arcos, D.A.; Cui, Y.; Pogrebnyakov, A.; Orgiani, P.; Xi, X.X.

2006-01-01

In traditional type-II superconductors, an applied magnetic field depresses the transition temperature and introduces magnetic flux vortices that cause resistive losses accompanied by a broadening of the transition. High-field high-pulsed-current measurements have revealed a new hybrid behavior in disordered magnesium diboride films: The superconductivity survives high magnetic fields by entering a mixed state with vortices (like a type II superconductor) but holds its vortices nearly motionless and avoids dissipation (like a type I superconductor). A study of this phenomenon in magnesium diboride films with varying degrees of scattering indicate that the hybrid type I-type II behavior arises from the two-band nature of the superconductivity and the different degrees of influence that disorder exerts on its different bands. (author)

Blood Types

Science.gov (United States)

... blood, safe blood transfusions depend on careful blood typing and cross-matching. There are four major blood ... cause exceptions to the above patterns. ABO blood typing is not sufficient to prove or disprove paternity ...

Identification of type II and type III pyoverdine receptors from Pseudomonas aeruginosa.

Science.gov (United States)

de Chial, Magaly; Ghysels, Bart; Beatson, Scott A; Geoffroy, Valérie; Meyer, Jean Marie; Pattery, Theresa; Baysse, Christine; Chablain, Patrice; Parsons, Yasmin N; Winstanley, Craig; Cordwell, Stuart J; Cornelis, Pierre

2003-04-01

Pseudomonas aeruginosa produces, under conditions of iron limitation, a high-affinity siderophore, pyoverdine (PVD), which is recognized at the level of the outer membrane by a specific TonB-dependent receptor, FpvA. So far, for P. aeruginosa, three different PVDs, differing in their peptide chain, have been described (types I-III), but only the FpvA receptor for type I is known. Two PVD-producing P. aeruginosa strains, one type II and one type III, were mutagenized by a mini-TnphoA3 transposon. In each case, one mutant unable to grow in the presence of the strong iron chelator ethylenediaminedihydroxyphenylacetic acid (EDDHA) and the cognate PVD was selected. The first mutant, which had an insertion in the pvdE gene, upstream of fpvA, was unable to take up type II PVD and showed resistance to pyocin S3, which is known to use type II FpvA as receptor. The second mutant was unable to take up type III PVD and had the transposon insertion in fpvA. Cosmid libraries of the respective type II and type III PVD wild-type strains were constructed and screened for clones restoring the capacity to grow in the presence of PVD. From the respective complementing genomic fragments, type II and type III fpvA sequences were determined. When in trans, type II and type III fpvA restored PVD production, uptake, growth in the presence of EDDHA and, in the case of type II fpvA, pyocin S3 sensitivity. Complementation of fpvA mutants obtained by allelic exchange was achieved by the presence of cognate fpvA in trans. All three receptors posses an N-terminal extension of about 70 amino acids, similar to FecA of Escherichia coli, but only FpvAI has a TAT export sequence at its N-terminal end.

Types of Diabetes

Science.gov (United States)

... Diabetes, Sexual, & Bladder Problems Clinical Trials What is Diabetes? Diabetes is a disease that occurs when your ... is serious. What are the different types of diabetes? The most common types of diabetes are type ...

Extending Dylan's type system for better type inference and error detection

DEFF Research Database (Denmark)

Mehnert, Hannes

2010-01-01

a dynamically typed language. Dylan poses several special challenges for gradual typing, such as multiple return values, variable-arity methods and generic functions (multiple dispatch). In this paper Dylan is extended with function types and parametric polymorphism. We implemented the type system...... and aunification-based type inference algorithm in the mainstream Dylan compiler. As case study we use the Dylan standard library (roughly 32000 lines of code), which witnesses that the implementation generates faster code with fewer errors. Some previously undiscovered errors in the Dylan library were revealed....

Types of Dementia

Science.gov (United States)

... Kids For Teens For Parents & Teachers Resolving Family Conflicts The Holidays and Alzheimer's Glossary Virtual Library Online ... Use Map Selector Search Alzheimer’s Association Alzheimer's & Dementia Types of Dementia Types of Dementia Types of Dementia ...

Chemical-free n-type and p-type multilayer-graphene transistors

Energy Technology Data Exchange (ETDEWEB)

Dissanayake, D. M. N. M., E-mail: nandithad@voxtel-inc.com [Voxtel Inc, Lockey Laboratories, University of Oregon, Eugene Oregon 97402 (United States); Eisaman, M. D. [Sustainable Energy Technologies Department, Brookhaven National Laboratory, Upton, New York 11973 (United States); Department of Electrical and Computer Engineering, Stony Brook University, Stony Brook, New York 11794 (United States); Department of Physics and Astronomy, Stony Brook University, Stony Brook, New York 11794 (United States)

2016-08-01

A single-step doping method to fabricate n- and p-type multilayer graphene (MG) top-gate field effect transistors (GFETs) is demonstrated. The transistors are fabricated on soda-lime glass substrates, with the n-type doping of MG caused by the sodium in the substrate without the addition of external chemicals. Placing a hydrogen silsesquioxane (HSQ) barrier layer between the MG and the substrate blocks the n-doping, resulting in p-type doping of the MG above regions patterned with HSQ. The HSQ is deposited in a single fabrication step using electron beam lithography, allowing the patterning of arbitrary sub-micron spatial patterns of n- and p-type doping. When a MG channel is deposited partially on the barrier and partially on the glass substrate, a p-type and n-type doping profile is created, which is used for fabricating complementary transistors pairs. Unlike chemically doped GFETs in which the external dopants are typically introduced from the top, these substrate doped GFETs allow for a top gate which gives a stronger electrostatic coupling to the channel, reducing the operating gate bias. Overall, this method enables scalable fabrication of n- and p-type complementary top-gated GFETs with high spatial resolution for graphene microelectronic applications.

Type 1 diabetes

Science.gov (United States)

Insulin-dependent diabetes; Juvenile onset diabetes; Diabetes - type 1; High blood sugar - type 1 diabetes ... Type 1 diabetes can occur at any age. It is most often diagnosed in children, adolescents, or young adults. Insulin is ...

Type D (distressed) personality in primary care patients with type 2 diabetes

DEFF Research Database (Denmark)

Nefs, Giesje; Pouwer, Francois; Pop, Victor J M

2012-01-01

D Scale-14 (DS14) in type 2 diabetes patients. METHODS: 1553 primary care patients with type 2 diabetes were assessed for demographic, clinical, lifestyle and psychological characteristics in 2007. A subgroup (n=1012) completed the DS14 again 1 year later. RESULTS: The two-factor model of the Type D...... or physiological risk factors, but Type D women had a more sedentary lifestyle (p=.003). Type D patients experienced less social support and more stressful life events, loneliness, and more depressed mood, anhedonia and anxiety (p0......OBJECTIVE: In cardiovascular research, Type D personality (high negative affectivity and social inhibition) has been associated with a more than 3-fold increased risk of adverse health outcomes. This study examined the validity and clinical correlates of the Type D construct as assessed by the Type...

Product shape selectivity of MFI-type, MEL-type, and BEA-type zeolites in the catalytic hydroconversion of heptane

NARCIS (Netherlands)

Poursaeidesfahani, A.; de Lange, M.F.; Khodadadian, F.; Dubbeldam, D.; Rigutto, Marcello; Nair, Nitish; Vlugt, T.J.H.

2017-01-01

The influence of product shape selectivity on the bifunctional conversion of n-C₇ by zeolite catalysts is investigated. Three different zeolite catalysts with different pore sizes (MFI-type, MEL-type, and BEA-type zeolites) have been investigated experimentally. For all three

Diabetes Type 2

Science.gov (United States)

Diabetes means your blood glucose, or blood sugar, levels are too high. With type 2 diabetes, the more common type, your body does not ... You have a higher risk of type 2 diabetes if you are older, have obesity, have a ...

Role of type 1 and type 3 fimbriae in Klebsiella pneumoniae biofilm formation

DEFF Research Database (Denmark)

Schroll, C.; Barken, Kim Bundvig; Krogfelt, K.A.

2010-01-01

nosocomial infections. Most clinical K. pneumoniae isolates express two types of fimbrial adhesins, type 1 fimbriae and type 3 fimbriae. In this study, we characterized the role of type 1 and type 3 fimbriae in K. pneumoniae biofilm formation. Results: Isogenic fimbriae mutants of the clinical K. pneumoniae...... of planktonic cells. Type 1 fimbriae did not influence biofilm formation and the expression of type 1 fimbriae was found to be down-regulated in biofilm forming cells. In contrast, expression of type 3 fimbriae was found to strongly promote biofilm formation. Conclusion: By use of well defined isogenic mutants...... we found that type 3 fimbriae, but not type 1 fimbriae, strongly promote biofilm formation in K. pneumoniae C3091. As the vast majority of clinical K. pneumoniae isolates express type 3 fimbriae, this fimbrial adhesin may play a significant role in development of catheter associated K. pneumoniae...

Type Inference with Inequalities

DEFF Research Database (Denmark)

Schwartzbach, Michael Ignatieff

1991-01-01

of (monotonic) inequalities on the types of variables and expressions. A general result about systems of inequalities over semilattices yields a solvable form. We distinguish between deciding typability (the existence of solutions) and type inference (the computation of a minimal solution). In our case, both......Type inference can be phrased as constraint-solving over types. We consider an implicitly typed language equipped with recursive types, multiple inheritance, 1st order parametric polymorphism, and assignments. Type correctness is expressed as satisfiability of a possibly infinite collection...

Pattern of thyroid auto immunity in type 1 and type 2 diabetics

International Nuclear Information System (INIS)

Yasmin, T.

2006-01-01

To determine the level of thyroid auto immunity among clinically euthyroid patients of type 1 and type 2 diabetics and to correlate the levels with pattern of diabetes. Blood samples were collected from 163 subjects (51 of type 1, 61 of type 2 diabetics and 51 non- diabetic controls) and sera were separated. They were all clinically euthyroid and selected conveniently. Thyroid profile (FT4, TSH and anti- TPO) was assessed in the three groups and compared. It was observed that at a cut off value of less than 100 units of anti-TPO level was normal, raised anti-TPO antibodies were found in 12% of normal control group, 61% in type 1 and 42.3% in type 2 diabetics. In type 1 diabetics, the TSH was higher in the younger age patients with progressive rise in anti-TPO antibodies level by age. The TSH, anti-TPO antibodies and BSF were significantly higher in type 1 diabetics than in the controls. In type 2 diabetics, TSH was moderately low but anti-TPO antibodies and BSF were higher than in the controls (author)

Computed tomography of neurodegenerative disease in childhood. Serial CT findings and their diagnostic values

Energy Technology Data Exchange (ETDEWEB)

Kataoka, Kenkichi; Nakagawa, Yoshihiro; Hojo, Hiroatsu

1984-12-01

Serial computed tomographic scans were performed on seven children with neurodegenerative disorders. In two cases of white-matter diseases (Krabbe's disease and metachromatic leukodystrophy), diffuse, low-density lesions of white matter were visible in the early stage of the diseases. In one case of adrenoleukodystrophy, regional low-density lesions of the white matter around the posterior horns and peculiar high-density strip lesions were visible in the early stage. In two cases of storage-type gray-matter diseases (Tay-Sachs' and infantile Gaucher's disease), there were no abnormalities in the early stage, but diffuse cortical atrophies in the late stage. In one case of Leigh's disease, there were small, low-density lesions of the basal ganglia and multiple low-density lesions of the gray matter in the early stage. In one case of subacute sclerosing panencephalitis, there were no abnormalities in the early stage, but small, low-density lesions of the basal ganglia and diffuse cerebral atrophies in the late stage. Diagnostic values were recognized dominantly in two cases of adrenoleukodystrophy and Leigh's disease. In the other cases, however, serial CT scans were useful in the diagnostic process. (author).

Computed tomography of neurodegenerative disease in childhood

International Nuclear Information System (INIS)

Kataoka, Kenkichi; Nakagawa, Yoshihiro; Hojo, Hiroatsu

1984-01-01

Serial computed tomographic scans were performed on seven children with neurodegenerative disorders. In two cases of white-matter diseases (Krabbe's disease and metachromatic leukodystrophy), diffuse, low-density lesions of white matter were visible in the early stage of the diseases. In one case of adrenoleukodystrophy, regional low-density lesions of the white matter around the posterior horns and peculiar high-density strip lesions were visible in the early stage. In two cases of storage-type gray-matter diseases (Tay-Sachs' and infantile Gaucher's disease), there were no abnormalities in the early stage, but diffuse cortical atrophies in the late stage. In one case of Leigh's disease, there were small, low-density lesions of the basal ganglia and multiple low-density lesions of the gray matter in the early stage. In one case of subacute sclerosing panencephalitis, there were no abnormalities in the early stage, but small, low-density lesions of the basal ganglia and diffuse cerebral atrophies in the late stage. Diagnostic values were recognized dominantly in two cases of adrenoleukodystrophy and Leigh's disease. In the other cases, however, serial CT scans were useful in the diagnostic process. (author)

Some fluid dynamical problems in astrophysics

International Nuclear Information System (INIS)

Drury, L.O.

1979-06-01

Certain aspects of the cosmic turbulence theory of galaxy formation are considered. Using a generalized form of a transformation due to Kurskov and Ozernoi I exhibit a formal equivalence between the problem of turbulence in an expanding universe containing a coupled matter-radiation fluid and in a non-expanding fluid with a time-dependent viscosity. This enables me to extend the Olson-Sachs formula for vorticity generation in cosmic turbulence to a matter-radiation fluid and to show that, the turbulence can not have an inertial subrange at the epoch of recombination. The linear inviscid stability of axisymmetric flows is considered. Using the projective form of the perturbation equations I obtain a simple proof of a generalised Richardson criterion which holds for all boundary conditions which do not actively feed energy to the perturbation. Further analysis shows the uniform density and pressure discs with self-similar rotation laws, are stable to perturbations which are incompressible in character, but that instability is a generic feature of differentially rotating compressible systems. The problem of numerically solving boundary value problems of the Orr-Sommerfeld type by shooting methods is considered, and a unifying geometrical interpretation of the principal methods is described. (author)

Clinical forms of shoulder instability in pediatric patients

Directory of Open Access Journals (Sweden)

Yaroslav N. Proshchenko

2016-12-01

Full Text Available Background. The recurrence rate of adolescent chronic shoulder instability is approximately 56%–68%. However, this pathology is often missed in childhood and adolescence. Aim. To identify the clinical forms of shoulder joint instability in pediatric patients. Materials and methods. The authors present the data from 57 pediatric patients aged 3−17 years with a total of 61 unstable shoulder joints. All patients were divided into groups according to the form of instability. Traumatic chronic shoulder instability was identified in 40 patients (Bankart and Hill–Sachs injuries. Of these, non-traumatic shoulder instability was diagnose in 17, including five with recurrent dislocation, and spontaneous shoulder dislocation due to dysplasia of glenoid and labrum was diagnosed in 12. Of the 57 patients in the study cohort, 53 underwent surgery. Postoperatively, two patients developed recurrent shoulder dislocation (Andreev–Boichev technique due type III shoulder dysplasia in the first patient and multidirectional injury in the second. Conclusions. Shoulder joint instability should be considered as the traumatic or non-traumatic form. Treatment decisions should be based on anatomical characteristics that predispose to recurrent dislocation.

Multiparty Asynchronous Session Types

DEFF Research Database (Denmark)

Honda, Kohei; Yoshida, Nobuko; Carbone, Marco

2016-01-01

. This work extends the foregoing theories of binary session types to multiparty, asynchronous sessions, which often arise in practical communication-centered applications. Presented as a typed calculus for mobile processes, the theory introduces a new notion of types in which interactions involving multiple......Communication is a central elements in software development. As a potential typed foundation for structured communication-centered programming, session types have been studied over the past decade for a wide range of process calculi and programming languages, focusing on binary (two-party) sessions...... peers are directly abstracted as a global scenario. Global types retain the friendly type syntax of binary session types while specifying dependencies and capturing complex causal chains of multiparty asynchronous interactions. A global type plays the role of a shared agreement among communication peers...

Multiparty symmetric sum types

DEFF Research Database (Denmark)

Nielsen, Lasse; Yoshida, Nobuko; Honda, Kohei

2010-01-01

This paper introduces a new theory of multiparty session types based on symmetric sum types, by which we can type non-deterministic orchestration choice behaviours. While the original branching type in session types can represent a choice made by a single participant and accepted by others...... determining how the session proceeds, the symmetric sum type represents a choice made by agreement among all the participants of a session. Such behaviour can be found in many practical systems, including collaborative workflow in healthcare systems for clinical practice guidelines (CPGs). Processes...... with the symmetric sums can be embedded into the original branching types using conductor processes. We show that this type-driven embedding preserves typability, satisfies semantic soundness and completeness, and meets the encodability criteria adapted to the typed setting. The theory leads to an efficient...

Object-Oriented Type Systems

DEFF Research Database (Denmark)

Schwartzbach, Michael Ignatieff; Palsberg, Jens

binding. Existing languages employ different type systems, and it can be difficult to compare, evaluate and improve them, since there is currently no uniform theory for such languages. This book provides such a theory. The authors review the type systems of Simula, Smalltalk, C++ and Eiffel and present......Object-Oriented Type Systems Jens Palsberg and Michael I. Schwartzbach Aarhus University, Denmark Type systems are required to ensure reliability and efficiency of software. For object-oriented languages, typing is an especially challenging problem because of inheritance, assignment, and late...... a type system that generalizes and explains them. The theory is based on an idealized object-oriented language called BOPL (Basic Object Programming Language), containing common features of the above languages. A type system, type inference algorithm, and typings of inheritance and genericity...

Best Proximity Points of Contractive-type and Nonexpansive-type Mappings

Directory of Open Access Journals (Sweden)

R. Kavitha

2018-02-01

Full Text Available The purpose of this paper is to obtain best proximity point theorems for multivalued nonexpansive-type and contractive-type mappings on complete metric spaces and on certain closed convex subsets of Banach spaces. We obtain a convergence result under some assumptions and we prove the existence of common best proximity points for a sequence of multivalued contractive-type mappings.

Diabetes, Type 1

OpenAIRE

Riazi, Afsane; Bradley, Clare

2007-01-01

This chapter provides an overview of the role of psychological stress in Type 1 diabetes. Studies relating to stress and Type 1 diabetes onset and control, as well as the evidence relating to stress management training in people with Type 1 diabetes are discussed.

Liver/kidney microsomal antibody type 1 and liver cytosol antibody type 1 concentrations in type 2 autoimmune hepatitis

OpenAIRE

Muratori, L; Cataleta, M; Muratori, P; Lenzi, M; Bianchi, F

1998-01-01

Background—Liver/kidney microsomal antibody type 1 (LKM1) and liver cytosol antibody type 1 (LC1) are the serological markers of type 2 autoimmune hepatitis (AIH). 
Aims—Since LKM1 and LC1 react against two distinct liver specific autoantigens (cytochrome P450IID6 (CYP2D6) and a 58 kDa cytosolic polypeptide respectively), the aim was to see whether LKM1 and LC1 concentrations correlate with liver disease activity. 
Patients—Twenty one patients with type 2 AIH were studied. 
Methods—A...

Qualification of Type IP-2, Type IP-3 and Type A packages for radioactive liquid shipments

International Nuclear Information System (INIS)

Marcu, L.; Sullivan, G.; Lo, K.K.

2006-01-01

Commercial products such as pails, drums or bulk containers can be used for radioactive materials transportation if they can be shown to meet the regulatory requirements. Ontario Power Generation (OPG) has successfully tested and qualified several off-the-shelf containers as Type IP-2, Type IP-3 and Type A packages for liquids in accordance with the International and Canadian Regulations. This paper describes the testing and qualification of these commercial products, and discusses the problems encountered and lessons learned during this process. (author)

Relationships between hole type penetrameter sensitivities and wire type penetrameter sensitivities

International Nuclear Information System (INIS)

Iwahashi, Y.; Ebata, M.; Ooka, K.; Hirayama, K.; Senda, T.

1985-01-01

Radiographic investigations were conducted using the two types of penetrameters (hole and wire types) to obtain the relationships between hole type penetrameter sensitivities and wire type penetrameter sensitivities. Furthermore, the effects of radiation sources and kinds of X-ray films on the relationships were investigated. As a result, the quantitative relationship were defined. It was also clarified that the kinds of X-ray films and radiation sources have a relatively little effect on the relationship

Theoretical models for Type I and Type II supernova

International Nuclear Information System (INIS)

Woosley, S.E.; Weaver, T.A.

1985-01-01

Recent theoretical progress in understanding the origin and nature of Type I and Type II supernovae is discussed. New Type II presupernova models characterized by a variety of iron core masses at the time of collapse are presented and the sensitivity to the reaction rate 12 C(α,γ) 16 O explained. Stars heavier than about 20 M/sub solar/ must explode by a ''delayed'' mechanism not directly related to the hydrodynamical core bounce and a subset is likely to leave black hole remnants. The isotopic nucleosynthesis expected from these massive stellar explosions is in striking agreement with the sun. Type I supernovae result when an accreting white dwarf undergoes a thermonuclear explosion. The critical role of the velocity of the deflagration front in determining the light curve, spectrum, and, especially, isotopic nucleosynthesis in these models is explored. 76 refs., 8 figs

Typed ψ-calculi

DEFF Research Database (Denmark)

Hüttel, Hans

2011-01-01

A large variety of process calculi extend the pi-calculus with more general notions of messages. Bengtson et al. have shown that many of these pi-like calculi can be expressed as so-called psi-calculi. In this paper, we describe a simple type system for psi-calculi. The type system satisfies a su...... for the distributed pi-calculus of Hennessy and Riely and finally show how existing type systems for secrecy and authenticity in the spi calculus can be represented and shown to be safe.......A large variety of process calculi extend the pi-calculus with more general notions of messages. Bengtson et al. have shown that many of these pi-like calculi can be expressed as so-called psi-calculi. In this paper, we describe a simple type system for psi-calculi. The type system satisfies...... a subject reduction property and a general notion of channel safety. A number of existing systems are shown to be instances of our system, and other, new type systems can also be obtained. We first present a new type system for the calculus of explicit fusions by Wischik and Gardner, then one...

A Kantorovich-Stancu Type Generalization of Szasz Operators including Brenke Type Polynomials

Directory of Open Access Journals (Sweden)

Rabia Aktaş

2013-01-01

Full Text Available We introduce a Kantorovich-Stancu type modification of a generalization of Szasz operators defined by means of the Brenke type polynomials and obtain approximation properties of these operators. Also, we give a Voronovskaya type theorem for Kantorovich-Stancu type operators including Gould-Hopper polynomials.

Charting improvements in US registry HLA typing ambiguity using a typing resolution score.

Science.gov (United States)

Paunić, Vanja; Gragert, Loren; Schneider, Joel; Müller, Carlheinz; Maiers, Martin

2016-07-01

Unrelated stem cell registries have been collecting HLA typing of volunteer bone marrow donors for over 25years. Donor selection for hematopoietic stem cell transplantation is based primarily on matching the alleles of donors and patients at five polymorphic HLA loci. As HLA typing technologies have continually advanced since the beginnings of stem cell transplantation, registries have accrued typings of varied HLA typing ambiguity. We present a new typing resolution score (TRS), based on the likelihood of self-match, that allows the systematic comparison of HLA typings across different methods, data sets and populations. We apply the TRS to chart improvement in HLA typing within the Be The Match Registry of the United States from the initiation of DNA-based HLA typing to the current state of high-resolution typing using next-generation sequencing technologies. In addition, we present a publicly available online tool for evaluation of any given HLA typing. This TRS objectively evaluates HLA typing methods and can help define standards for acceptable recruitment HLA typing. Copyright © 2016 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

Linearly Refined Session Types

Directory of Open Access Journals (Sweden)

Pedro Baltazar

2012-11-01

Full Text Available Session types capture precise protocol structure in concurrent programming, but do not specify properties of the exchanged values beyond their basic type. Refinement types are a form of dependent types that can address this limitation, combining types with logical formulae that may refer to program values and can constrain types using arbitrary predicates. We present a pi calculus with assume and assert operations, typed using a session discipline that incorporates refinement formulae written in a fragment of Multiplicative Linear Logic. Our original combination of session and refinement types, together with the well established benefits of linearity, allows very fine-grained specifications of communication protocols in which refinement formulae are treated as logical resources rather than persistent truths.

Object-Oriented Type Systems

DEFF Research Database (Denmark)

Schwartzbach, Michael Ignatieff; Palsberg, Jens

a type system that generalizes and explains them. The theory is based on an idealized object-oriented language called BOPL (Basic Object Programming Language), containing common features of the above languages. A type system, type inference algorithm, and typings of inheritance and genericity......Object-Oriented Type Systems Jens Palsberg and Michael I. Schwartzbach Aarhus University, Denmark Type systems are required to ensure reliability and efficiency of software. For object-oriented languages, typing is an especially challenging problem because of inheritance, assignment, and late...... are provided for BOPL. Throughout, the results are related to the languages on which BOPL is based. This text offers advanced undergraduates and professional software developers a sound understanding of the key aspects of object-oriented type systems. All algorithms are implemented in a freely available...

Thinking about gender types: Cognitive organization of female and male types

NARCIS (Netherlands)

Vonk, R.; Ashmore, R.D.

2003-01-01

We examined the content and dimensional structure of a large and representative sample of gender types. In Study 1, using an open-ended procedure, participants generated 306 different labels for female types (e.g. housewife, feminist, femme fatale, secretary, slob) and 310 for male types (e.g.

Advances in Blood Typing.

Science.gov (United States)

Quraishy, N; Sapatnekar, S

The clinical importance of blood group antigens relates to their ability to evoke immune antibodies that are capable of causing hemolysis. The most important antigens for safe transfusion are ABO and D (Rh), and typing for these antigens is routinely performed for patients awaiting transfusion, prenatal patients, and blood donors. Typing for other blood group antigens, typically of the Kell, Duffy, Kidd, and MNS blood groups, is sometimes necessary, for patients who have, or are likely to develop antibodies to these antigens. The most commonly used typing method is serological typing, based on hemagglutination reactions against specific antisera. This method is generally reliable and practical for routine use, but it has certain drawbacks. In recent years, molecular typing has emerged as an alternative or supplemental typing method. It is based on detecting the polymorphisms and mutations that control the expression of blood group antigens, and using this information to predict the probable antigen type. Molecular typing methods are useful when traditional serological typing methods cannot be used, as when a patient has been transfused and the sample is contaminated with red blood cells from the transfused blood component. Moreover, molecular typing methods can precisely identify clinically significant variant antigens that cannot be distinguished by serological typing; this capability has been exploited for the resolution of typing discrepancies and shows promise for the improved transfusion management of patients with sickle cell anemia. Despite its advantages, molecular typing has certain limitations, and it should be used in conjunction with serological methods. © 2016 Elsevier Inc. All rights reserved.

Wild type measles virus attenuation independent of type I IFN

Directory of Open Access Journals (Sweden)

Horvat Branka

2008-02-01

Full Text Available Abstract Background Measles virus attenuation has been historically performed by adaptation to cell culture. The current dogma is that attenuated virus strains induce more type I IFN and are more resistant to IFN-induced protection than wild type (wt. Results The adaptation of a measles virus isolate (G954-PBL by 13 passages in Vero cells induced a strong attenuation of this strain in vivo. The adapted virus (G954-V13 differs from its parental strain by only 5 amino acids (4 in P/V/C and 1 in the M gene. While a vaccine strain, Edmonston Zagreb, could replicate equally well in various primate cells, both G954 strains exhibited restriction to the specific cell type used initially for their propagation. Surprisingly, we observed that both G954 strains induced type I IFN, the wt strain inducing even more than the attenuated ones, particularly in human plasmacytoid Dendritic Cells. Type I IFN-induced protection from the infection of both G954 strains depended on the cell type analyzed, being less efficient in the cells used to grow the viral strain. Conclusion Thus, mutations in M and P/V/C proteins can critically affect MV pathogenicity, cellular tropism and lead to virus attenuation without interfering with the α/β IFN system.

Facts about Type 2

Medline Plus

Full Text Available ... Care of Type 2 Diabetes This two-page introduction to type 2 diabetes is in PDF format ... Basics Symptoms Type 1 Type 2 Gestational Myths Statistics Common Terms Genetics Living With Diabetes Recently Diagnosed ...

Mastering TypeScript

CERN Document Server

Rozentals, Nathan

2015-01-01

Whether you are a JavaScript developer aiming to learn TypeScript, or an experienced TypeScript developer wanting to take your skills to the next level, this book is for you. From basic to advanced language constructs, test-driven development, and object-oriented techniques, you will learn how to get the most out of the TypeScript language.

Type Tricks

DEFF Research Database (Denmark)

Beier, Sofie

2017-01-01

‘Type Tricks’ is about typographical rules and the underlying structure of the work process in the design of new typefaces. In that way, it is both a reference book and a user manual. In an illustrative format, it presents the different stages of type design in an easily accessible manner. Being...

TypeScript revealed

CERN Document Server

Maharry, Dan

2013-01-01

TypeScript Revealed is a quick 100-page guide to Anders Hejlsberg's new take on JavaScript. With this brief, fast-paced introduction to TypeScript, .NET, Web and Windows 8 application developers who are already familiar with JavaScript will easily get up to speed with TypeScript and decide whether or not to start incorporating it into their own development. TypeScript is 'JavaScript for Application-scale development'; a superset of JavaScript that brings to it an additional object-oriented-like syntax familiar to .NET programmers that compiles down into simple, clean JavaScript that any browse

Potential biological pathways linking Type-D personality and poor health: A cross-sectional investigation.

Directory of Open Access Journals (Sweden)

Vera K Jandackova

Full Text Available Type-D personality, defined as a combination of high negative affect and high social isolation, has been associated with poor health outcomes. However, pathways underlying this association are largely unknown. We investigated the relationship between Type-D personality and several biological and behavioral pathways including the autonomic nervous system, the immune system, glucose regulation and sleep in a large, apparently healthy sample.Data from a total of 646 respondents (age 41.6±11.5, 12,2% women were available for analysis. Persons with Type-D (negative affect and social isolation score ≥10 were contrasted with those without Type-D. Measures of plasma fibrinogen levels, white blood cell count, high sensitivity C-reactive protein, fasting plasma glucose (FPG, cholesterol, high-density and low-density lipoprotein, glycated hemoglobin (HbA1c, creatinine, triglycerides, and albumin were derived from fasting blood samples. Urine norepinephrine and free cortisol were determined by high-performance liquid chromatography. Time-domain heart rate variability (HRV measures were calculated for the 24hr recording period and for nighttime separately.Persons with Type-D had higher HbA1c, FPG, and fibrinogen, and lower nighttime HRV than those without Type-D, suggesting worse glycemic control, systemic inflammation and poorer autonomic nervous system modulation in Type-D persons. In addition, those with Type-D reported less social support and greater sleep difficulties while no group differences were observed for alcohol and cigarette consumption, physical activity and body mass index.Findings provide some of the first evidence for multiple possible biological and behavioral pathways between Type-D personality and increased morbidity and mortality.

Interspecies radioimmunoassay for the major structural proteins of primate type-D retroviruses

International Nuclear Information System (INIS)

Colcher, D.; Teramoto, Y.A.; Schlom, J.

1977-01-01

A competition radioimmunoassay has been developed in which type-D retroviruses from three primate species compete. The assay utilizes the major structural protein (36,000 daltons) of the endogenous squirrel monkey retrovirus and antisera directed against the major structural protein (27,000 daltons) of the Mason-Pfizer monkey virus isolated from rhesus monkeys. Purified preparations of both viruses grown in heterologous cells, as well as extracts of heterologous cells infected with squirrel monkey retrovirus or Mason-Pfizer monkey virus, compete completely in the assay. Addition of an endogenous virus of the langur monkey also results in complete blocking. No blocking in the assay is observed with type-C baboon viruses, woolly monkey virus, and gibbon virus. Various other type-C and type-B viruses also showed no reactivity. An interspecies assay has thus been developed that recognizes the type-D retroviruses from both Old World monkey (rhesus and langur) and New World monkey (squirrel) species

E-evolution : e-commerce spread, bu e-dustrial revolution is on hold

International Nuclear Information System (INIS)

Lunan, D.

2001-01-01

Approximately two years ago, e-commerce seemed ready to revolutionize the way the oil and gas industry conducted business. After the dot-com demise, Statistics Canada reported that less than one per cent of resource sector companies were selling goods on the Internet. According to financial industry experts, the energy industry should implement an e-business strategy based on four major concepts. They recommended using the Internet as a procurement source, the idea easiest to implement and with the potential to positively improve the bottom line. The second area recommended was assets acquisition and disposition. Some portals have already targeted this market niche, such as IndigoPool.com, operated by Schlumberger. In addition to assets, the portal offers millions of kilometres of two-dimensional seismic data, as well as three-dimensional and gravity or magnetic surveys. Portals like IndigoPool also feature electronic data rooms, similar to physical data rooms where registered customers can view and analyze all relevant information. A key partner in IndigoPool is Waterhouse and Co., whose responsibility is the handling of bids for various properties in Western Canada. The third aspect recommended by Goldman Sachs in a report, is trading in a number of commodities like natural gas, crude oil and liquids, electricity, etc. The fourth aspect favored by Goldman Sachs is reporting and regulatory filings. The National Energy Board established a phased-in electronic regulatory filing environment in the spring of 2001. The standardization of industry and government information systems is continuing on an international scale. 5 figs

E-evolution : e-commerce spread, bu e-dustrial revolution is on hold

Energy Technology Data Exchange (ETDEWEB)

Lunan, D.

2001-09-03

Approximately two years ago, e-commerce seemed ready to revolutionize the way the oil and gas industry conducted business. After the dot-com demise, Statistics Canada reported that less than one per cent of resource sector companies were selling goods on the Internet. According to financial industry experts, the energy industry should implement an e-business strategy based on four major concepts. They recommended using the Internet as a procurement source, the idea easiest to implement and with the potential to positively improve the bottom line. The second area recommended was assets acquisition and disposition. Some portals have already targeted this market niche, such as IndigoPool.com, operated by Schlumberger. In addition to assets, the portal offers millions of kilometres of two-dimensional seismic data, as well as three-dimensional and gravity or magnetic surveys. Portals like IndigoPool also feature electronic data rooms, similar to physical data rooms where registered customers can view and analyze all relevant information. A key partner in IndigoPool is Waterhouse and Co., whose responsibility is the handling of bids for various properties in Western Canada. The third aspect recommended by Goldman Sachs in a report, is trading in a number of commodities like natural gas, crude oil and liquids, electricity, etc. The fourth aspect favored by Goldman Sachs is reporting and regulatory filings. The National Energy Board established a phased-in electronic regulatory filing environment in the spring of 2001. The standardization of industry and government information systems is continuing on an international scale. 5 figs.

Undifferentiated-type gastric adenocarcinoma: prognostic impact of three histological types

Directory of Open Access Journals (Sweden)

Lee Han

2012-11-01

Full Text Available Abstract Background The prognostic value of the three constituents of undifferentiated-type gastric adenocarcinoma remains unclear. The present study assessed the clinicopathological characteristics and prognosis of undifferentiated-type mucinous adenocarcinoma (uMAC and signet ring cell carcinoma (SRC compared with those of poorly differentiated adenocarcinoma (PDAC. Methods In total, 1,376 patients with undifferentiated-type gastric adenocarcinoma were included, consisting of 1,002 patients diagnosed with PDAC, 54 with uMAC and 320 with SRC. Clinicopathological factors and survival rates were compared among the three histological types. Results Significant differences in the distribution of pathological stages were observed among the groups. Patients with SRC had a significantly better survival rate than those with PDAC or uMAC, in both the all patients including non-curative resected patients and curative-resected groups. In addition, there was significant difference in survival between the PDAC and uMAC groups. Multivariate analysis suggested that age, gender, tumor depth, lymph node metastasis and curability significantly affected survival. Histological type was not an independent prognostic factor. There was no significant difference in the pattern of recurrence among the three groups. Conclusions The uMAC and SRC had worse and favorable prognosis compared with PDCA, respectively. However, there were no differences in survival by pathological stage, thus histological type was not an independent predictor of prognosis.

Web-based depression treatment for type 1 and type 2 diabetic patients

DEFF Research Database (Denmark)

van Bastelaar, Kim M P; Pouwer, Francois; Cuijpers, Pim

2011-01-01

intervention on a large scale at relatively low costs. This study evaluated the effectiveness of Web-based CBT for depression treatment in adults with type 1 or type 2 diabetes, with minimal guidance. RESEARCH DESIGN AND METHODS: A randomized controlled trial was conducted in the Netherlands in 255 adult...... no beneficial effect on glycemic control (P > 0.05). CONCLUSIONS: Web-based CBT depression treatment is effective in reducing depressive symptoms in adults with type 1 and type 2 diabetes. In addition, the intervention reduces diabetes-specific emotional distress in depressed patients.......OBJECTIVE: Comorbid depression is common in patients with type 1 and type 2 diabetes, adversely affecting quality of life, diabetes outcomes, and mortality. Depression can be effectively treated with cognitive behavior therapy (CBT). The Internet is a new and attractive method for delivering CBT...

US healthcare costs attributable to type A and type B influenza.

Science.gov (United States)

Yan, Songkai; Weycker, Derek; Sokolowski, Stefania

2017-09-02

While the overall healthcare burden of seasonal influenza in the United States (US) has been well characterized, the proportion of influenza burden attributable to type A and type B illness warrants further elucidation. The aim of this study was to estimate numbers of healthcare encounters and healthcare costs attributable to influenza viral strains A and B in the US during the 2001/2002 - 2008/2009 seasons. Healthcare encounters and costs in the US during the 2001/2002 - 2008/2009 seasons for influenza type A and influenza type B were estimated separately and collectively, by season and age group, based on data from published literature and secondary sources for: rates of influenza-related encounters requiring formal healthcare, unit costs of influenza-related healthcare encounters, and estimates of population size. Across 8 seasons, projected annual numbers of influenza-related healthcare encounters ranged from 11.3-25.6 million, and healthcare costs, from $2.0-$5.8 billion. While the majority of influenza illness was attributable to type A strains, type B strains accounted for 37% of healthcare costs across all seasons, and as much as 66% in a single season. The outpatient burden of type B disease was considerable among persons aged 18-64 y while the hospital cost burden was highest in young children. Influenza viral strain B was associated with considerable health system burden each year during the period of interest. Increasing influenza vaccine coverage, especially with the recently approved quadrivalent products including an additional type B strain, could potentially reduce overall annual influenza burden in the US.

Towards Practical Gradual Typing

OpenAIRE

Takikawa, Asumu; Feltey, Daniel; Dean, Earl; Flatt, Matthew; Findler, Robert Bruce; Tobin-Hochstadt, Sam; Felleisen, Matthias

2015-01-01

Over the past 20 years, programmers have embraced dynamically-typed programming languages. By now, they have also come to realize that programs in these languages lack reliable type information for software engineering purposes. Gradual typing addresses this problem; it empowers programmers to annotate an existing system with sound type information on a piecemeal basis. This paper presents an implementation of a gradual type system for a full-featured class-based language as well as a novel p...

Building a sustainable future - The effects of CSR-finance on national oil companies

Energy Technology Data Exchange (ETDEWEB)

Thakur, Vishal

2010-09-15

Since the release of Goldman Sach's 'Path to 2050' report, arguing the combined economies of Brazil, Russia, India and China, would ellipse the economies of the current richest countries by 2050, the BRIC countries have garnered global attention. As demand for oil in these nations increases, NOCs within the BRIC have gone beyond national borders for exploration and financing - giving rise to concerns over emerging policies, objectives and priorities. The purpose of this paper is to examine NOCs of the BRIC and their compliance with international standards of corporate social responsibility and their effects through international capital markets.

Flow stress anisotropy

DEFF Research Database (Denmark)

Winther, G.

1996-01-01

stress Variation in the rolling plane, which may be as high as 20%, are presented. The traditional Taylor model is applied to the data to account for the effect of texture. However, texture effects alone are not enough to explain all of the observed anisotropy. New models which take the combined effects...... of texture and deformation microstructure into account are presented. The models are based on the Taylor and Sachs models but modified with an anisotropic critical shear stress to account for the effect of the microstructure. The agreement between experimental data and model predictions is definitely better...

Building a sustainable future - The effects of CSR-finance on national oil companies

Energy Technology Data Exchange (ETDEWEB)

Thakur, Vishal

2010-09-15

Since the release of Goldman Sach's 'Path to 2050' report, arguing the combined economies of Brazil, Russia, India and China, would ellipse the economies of the current richest countries by 2050, the BRIC countries have garnered global attention. As demand for oil in these nations increases, NOCs within the BRIC have gone beyond national borders for exploration and financing - giving rise to concerns over emerging policies, objectives and priorities. The purpose of this paper is to examine NOCs of the BRIC and their compliance with international standards of corporate social responsibility and their effects through international capital markets.

Flatspace chiral supergravity

Science.gov (United States)

Bagchi, Arjun; Basu, Rudranil; Detournary, Stéphane; Parekh, Pulastya

2018-05-01

We propose a holographic duality between a 2 dimensional (2d) chiral superconformal field theory and a certain theory of supergravity in 3d with flatspace boundary conditions that is obtained as a double scaling limit of a parity breaking theory of supergravity. We show how the asymptotic symmetries of the bulk theory reduce from the "despotic" super Bondi-Metzner-Sachs algebra (or equivalently the inhomogeneous super Galilean conformal algebra) to a single copy of the super-Virasoro algebra in this limit and also reproduce the same reduction from a study of null vectors in the putative 2d dual field theory.

Vom Zurechtlegen der Niederlage als Grundlage: Kritik der (Rechts‐Grundlagenforschung

Directory of Open Access Journals (Sweden)

David R. Wenger

2006-06-01

Full Text Available Philosophie als Magd des Rechts (Ancilla Iuris ist eine ambivalente Gestalt. Indem sie etwa die Rechtsdogmatik nach allen Regeln ihrer Kunst dekonstruiert und deren unbewusste oder gar mutwillig verheimlichte Grundlagen bloßlegt, legt sie diese zugleich auch selber fest. Es hat also jede so genannte Grundlagenforschung auch ihre eigenen festen Stellungen und Standpunkte, die sie allerdings nicht sehen kann, weil sie auf ihnen steht. Gegenstrebig fügen sich in ihr Kritik und Dogmatik; sie sind sich als Befragung und Begründung entgegengesetzt und schlagen ineinander um: das ist die Dialektik der Sache.

Troisième partie. L’hygiène générale

OpenAIRE

Ibn Halsun,

2015-01-01

1. L’HYGIÈNE ALIMENTAIRE Sache que, en matière de régime alimentaire, il faut se rappeler quatre points et y consacrer beaucoup de vigilance ; ce sont la qualité, la quantité, le moment et l’organisation des repas. La qualité ou nature des aliments Elle varie selon le tempérament du sujet : ainsi, l’alimentation du bilieux phlegmatique sera nécessairement différente de celle du bilieux, car ce qui est bon pour l’un peut être nuisible pour l’autre. Ce que nous retenons du discours des anciens ...

Pneumarthro-CT in diagnosis of recurrent shoulder dislocations and instability

International Nuclear Information System (INIS)

Mayr, B.; Siuda, S.; Will, A.; Frenzl, G.; Habermeier, P.; Muenchen Univ.; Muenchen Univ.

1991-01-01

32 patients in whom recurrent dislocations or instability of the shoulder had been diagnosed, were examined via CT. Air was used as contrast agent. The results of pneumarthro-CT were re-checked 28 times by surgery and 6 times by arthroscopy. In all cases, Hill-Sachs defects and bony Bankart lesions had been correctly diagnosed. There were no faulty findings. Rate of accuracy of CT in detecting ruptures of the joint capsule from the neck of the scapula was 94%, in detecting lesions of the labrum glenoidale 88%, and in imaging an extended joint capsule 84%. (orig.) [de

Weather types in the South Shetlands (Antarctica) using a circulation type approach

Science.gov (United States)

Mora, Carla; João Rocha, Maria; Dutra, Emanuel; Trigo, Isabel; Vieira, Gonçalo; Fragoso, Marcelo; Ramos, Miguel

2010-05-01

Weather types in the South Shetlands (Antarctica) were defined using an automated method based on the Lamb Weather Type classification scheme (Jones et al. 1993). This is an objective classification originally developed for the British Isles (Jones et al., 1993) and also applied to southeast (Goodess and Palutikof 1998) and northwest Spain (Lorenzo et al, 2009), Portugal (Trigo and DaCamara 2000) and Greece (Maheras et al. 2004) with good results. Daily atmospheric circulation in the South Shetlands region from 1989 to 2009 was classified using a 16-node grid of sea level pressure data from the ERA Interim. The classification is obtained through the comparison of the magnitudes of the directional and rotational components of the geostrophic flow. Basic circulation types were combined into 10 groups of weather types: four directional types (NW, N, S and SW), three anticyclonic types (A, ASW and ANW), and three cyclonic types (C, CSW and CNW). Westerly flow and cyclonic circulation are the most frequent events throughout the year. The sea level pressure field for each weather type is presented and the synoptic characteristics are described. The analysis is based on ERA-Interim fields, including mean sea level pressure, precipitation, cloud cover, humidity and air temperature. Snow thickess modelled using HTESSEL is also considered. Analysis of variance (anova) and multivariate analysis (principal component analysis) are applied to evaluate the characteristics of each weather type. This circulation-type approach showed good results in the past for the downscaling of precipitation in other regions, and we are interested in evaluating the possibilities that the classification offers for downscaling precipitation, but also for snow and air temperature. For this we will be using observational data at test sites in Livingston and Deception islands. We are also motivated by the possibility of using the circulation-type approach as a predictor in statistical downscaling

TypingSuite: Integrated Software for Presenting Stimuli, and Collecting and Analyzing Typing Data

Science.gov (United States)

Mazerolle, Erin L.; Marchand, Yannick

2015-01-01

Research into typing patterns has broad applications in both psycholinguistics and biometrics (i.e., improving security of computer access via each user's unique typing patterns). We present a new software package, TypingSuite, which can be used for presenting visual and auditory stimuli, collecting typing data, and summarizing and analyzing the…

ClusType: Effective Entity Recognition and Typing by Relation Phrase-Based Clustering

Science.gov (United States)

Ren, Xiang; El-Kishky, Ahmed; Wang, Chi; Tao, Fangbo; Voss, Clare R.; Ji, Heng; Han, Jiawei

2015-01-01

Entity recognition is an important but challenging research problem. In reality, many text collections are from specific, dynamic, or emerging domains, which poses significant new challenges for entity recognition with increase in name ambiguity and context sparsity, requiring entity detection without domain restriction. In this paper, we investigate entity recognition (ER) with distant-supervision and propose a novel relation phrase-based ER framework, called ClusType, that runs data-driven phrase mining to generate entity mention candidates and relation phrases, and enforces the principle that relation phrases should be softly clustered when propagating type information between their argument entities. Then we predict the type of each entity mention based on the type signatures of its co-occurring relation phrases and the type indicators of its surface name, as computed over the corpus. Specifically, we formulate a joint optimization problem for two tasks, type propagation with relation phrases and multi-view relation phrase clustering. Our experiments on multiple genres—news, Yelp reviews and tweets—demonstrate the effectiveness and robustness of ClusType, with an average of 37% improvement in F1 score over the best compared method. PMID:26705503

78 FR 26407 - Goldman Sachs Trust II, et al.; Notice of Application

Science.gov (United States)

2013-05-06

... change is in the best interests of the Subadvised Fund and its shareholders, and does not involve a... permit them to enter into and materially amend subadvisory agreements without shareholder approval and... Commission orders a hearing. Interested persons may request a hearing by writing to the Commission's...

Type B Drum packages

International Nuclear Information System (INIS)

Edwards, W.S.

1995-11-01

The Type B Drum package is a container in which a single drum containing Type B quantities of radioactive material will be packaged for shipment. The Type B Drum containers are being developed to fill a void in the packaging and transportation capabilities of the US Department of Energy (DOE), as no double containment packaging for single drums of Type B radioactive material is currently available. Several multiple-drum containers and shielded casks presently exist. However, the size and weight of these containers present multiple operational challenges for single-drum shipments. The Type B Drum containers will offer one unshielded version and, if needed, two shielded versions, and will provide for the option of either single or double containment. The primary users of the Type B Drum container will be any organization with a need to ship single drums of Type B radioactive material. Those users include laboratories, waste retrieval facilities, emergency response teams, and small facilities

Comparison of diabetic ketoacidosis in patients with type-1 and type-2 diabetes mellitus.

Science.gov (United States)

Barski, Leonid; Nevzorov, Roman; Harman-Boehm, Ilana; Jotkowitz, Alan; Rabaev, Elena; Zektser, Miri; Zeller, Lior; Shleyfer, Elena; Almog, Yaniv

2013-04-01

Diabetic ketoacidosis (DKA) occurs most often in patients with type 1 diabetes, however patients with type 2 diabetes are also susceptible to DKA under stressful conditions. The aims of our study were to evaluate and compare the clinical and biochemical characteristics and outcomes of type 1 versus type 2 diabetes mellitus (DM) patients with DKA. A retrospective cohort study of adult patients hospitalized with DKA between January 1, 2003, and January 1, 2010. The clinical and biochemical characteristics of DKA patients with type-1 DM were compared with those of patients with type-2 DM. The primary outcome was in-hospital all-cause mortality. The study cohort included 201 consecutive patients for whom the admission diagnosis was DKA: 166 patients (82.6%) with type-1 DM and 35 patients (17.4%) with type-2 DM. The patients with DKA and type-2 DM were significantly older than patients with type-1 DM (64.3 versus 37.3, P ventilation and bed-ridden state were independent predictors of 30-day mortality.

Honesty by Typing

OpenAIRE

Bartoletti , Massimo; Scalas , Alceste; Tuosto , Emilio; Zunino , Roberto

2013-01-01

We propose a type system for a calculus of contracting processes. Processes can establish sessions by stipulating contracts, and then can interact either by keeping the promises made, or not. Type safety guarantees that a typeable process is honest - that is, it abides by the contracts it has stipulated in all possible contexts, even in presence of dishonest adversaries. Type inference is decidable, and it allows to safely approximate the honesty of processes using either synchronous or async...

Cardiac involvement of progressive muscular dystrophy (Becker type, Limb-girdle type and Fukuyama type) evaluated by radionuclide method

International Nuclear Information System (INIS)

Nagamachi, Shigeki; Inoue, Kenjiro; Jinnouchi, Seishi; Hoshi, Hiroaki; Ono, Seiji; Ohnishi, Takashi; Futami, Shigemi; Watanabe, Katsushi; Hayashi, Tohru

1994-01-01

Tl-201 SPECT and Tc-99m-Human serum albumin (HSA) multigated radionuclide ventriculography were performed on 11 patients with progressive muscular dystrophy (Becker type 2, Fukuyama type 2, Limb-girdle type 7) to evaluate myocardial involvement. Hypoperfusion was detected in 8 patients on Tl-201 SPECT. Decreases in both systolic function (left ventricular ejection fraction; LVEF) and diastolic function (peak filling rate; PFR) were also seen in these patients. A high incidence of myocardial involvement of these kinds of progressive muscular dystrophy was suggested. (author)

Cardiac involvement of progressive muscular dystrophy (Becker type, Limb-girdle type and Fukuyama type) evaluated by radionuclide method

Energy Technology Data Exchange (ETDEWEB)

Nagamachi, Shigeki; Inoue, Kenjiro; Jinnouchi, Seishi; Hoshi, Hiroaki; Ono, Seiji; Ohnishi, Takashi; Futami, Shigemi; Watanabe, Katsushi; Hayashi, Tohru [Miyazaki Medical Coll., Kiyotake (Japan)

1994-02-01

Tl-201 SPECT and Tc-99m-Human serum albumin (HSA) multigated radionuclide ventriculography were performed on 11 patients with progressive muscular dystrophy (Becker type 2, Fukuyama type 2, Limb-girdle type 7) to evaluate myocardial involvement. Hypoperfusion was detected in 8 patients on Tl-201 SPECT. Decreases in both systolic function (left ventricular ejection fraction; LVEF) and diastolic function (peak filling rate; PFR) were also seen in these patients. A high incidence of myocardial involvement of these kinds of progressive muscular dystrophy was suggested. (author).

Improving Precision of Types

DEFF Research Database (Denmark)

Winther, Johnni

Types in programming languages provide a powerful tool for the programmer to document the code so that a large aspect of the intent can not only be presented to fellow programmers but also be checked automatically by compilers. The precision with which types model the behavior of programs...... is crucial to the quality of these automated checks, and in this thesis we present three different improvements to the precision of types in three different aspects of the Java programming language. First we show how to extend the type system in Java with a new type which enables the detection of unintended...

TypePad For Dummies

CERN Document Server

Nelson, Melanie

2010-01-01

TypePad for Dummies will be on guiding readers through the technical tasks necessary for starting, using and customizing a TypePad blog. It will comprehensively explain choosing the right TypePad membership plan, singing up, configuring, using and customizing a blog using the TypePad system. It will also include: Illustrations from real-world blogs with screenshots and specific examples that bring the book's concepts and ideas to life.; Step-by-step tutorials that will walk readers through the process of signing up for a new TypePad blog and getting down the business of publishing their conten

Types of Blood Donations

Science.gov (United States)

... Red Cell Plasma Platelets Red Cells What blood donation type is best for me? **If you do ... type, a whole blood donation is recommended** Blood Donation Types: Volunteer Donations The standard or most common ...

Facts about Type 2

Medline Plus

Full Text Available ... En Español Type 1 Type 2 About Us Online Community Meal Planning Sign In Search: Search More ... Diagnosing Diabetes and Learning About Prediabetes Type 2 Diabetes Risk Test Lower ...

Behavioral economics survey of patients with type 1 and type 2 diabetes

Directory of Open Access Journals (Sweden)

Emoto N

2015-05-01

Full Text Available Naoya Emoto,1 Fumitaka Okajima,1 Hitoshi Sugihara,2 Rei Goto3,4 1Division of Endocrinology, Department of Medicine, Nippon Medical School Chiba Hokusoh Hospital, Chiba, 2Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School, Tokyo, 3Hakubi Center of Advanced Research, Kyoto University, Kyoto, 4Graduate School of Economics, Kyoto University, Kyoto, Japan Background: Adherence to treatment and the metabolic control of diabetes are challenging in many patients with diabetes. The theory of neuroeconomics can provide important clues for understanding unreasonable human behavior concerning decisions between outcomes occurring at different time points.  Objective: We investigated patients with type 1 and type 2 diabetes to determine whether patients who are at a risk of developing complications are less risk averse. We also examined whether patients with type 1 and type 2 diabetes have different behavioral traits in decision making under risk.  Methods: We conducted a behavioral economics survey of 219 outpatients, 66 with type 1 diabetes and 153 with type 2 diabetes. All patients had been referred by general practitioners or other departments in the hospital. At the time of the survey, levels of hemoglobin A1c were not significantly different between patients with type 1 and type 2 diabetes.  Results: Patients with type 2 diabetes showed a lower response rate to the survey compared with patients with type 1 diabetes (71.9% vs 87.9%, P<0.01. Logistic regression analysis indicated that diabetic retinopathy was negatively associated with risk averse in pricing of hypothetical lotteries, myopic time preference, willingness to pay for preventive medicine, and levels of satisfaction with life. Diabetic nephropathy was also negatively associated with risk averse in pricing of hypothetical lotteries. Detailed analysis revealed that a lower proportion of patients with type 2 diabetes (22.7% were categorized

Human muscle fiber type-specific insulin signaling: Impact of obesity and type 2 diabetes

DEFF Research Database (Denmark)

Albers, Peter Hjorth; Pedersen, Andreas J T; Birk, Jesper Bratz

2015-01-01

Skeletal muscle is a heterogeneous tissue composed of different fiber types. Studies suggest that insulin-mediated glucose metabolism is different between muscle fiber types. We hypothesized that differences are due to fiber-type specific expression/regulation of insulin signaling elements and....../or metabolic enzymes. Pools of type I and II fibers were prepared from biopsies of the vastus lateralis muscles from lean, obese and type 2 diabetic subjects before and after a hyperinsulinemic-euglycemic clamp. Type I fibers compared to type II fibers have higher protein levels of the insulin receptor, GLUT4......, hexokinase II, glycogen synthase (GS), pyruvate dehydrogenase (PDH-E1α) and a lower protein content of Akt2, TBC1D4 and TBC1D1. In type I fibers compared to type II fibers, the phosphorylation-response to insulin was similar (TBC1D4, TBC1D1 and GS) or decreased (Akt and PDH-E1α). Phosphorylation...

Blood Type Puzzle.

Science.gov (United States)

Kelly, Janet

1997-01-01

Presents a blood type puzzle that provides a visual, hands-on mechanism by which students can examine blood group reactions. Offers students an opportunity to construct their own knowledge about blood types. (JRH)

Qualidade pós-colheita de nêsperas submetidas ao armazenamento sob baixa temperatura e atmosfera modificada Postharvest quality of loquat stored at a low temperature and modified atmosphere

Directory of Open Access Journals (Sweden)

Jacinta Tavares de Campos

2007-06-01

Full Text Available A curta vida-de-prateleira da nêspera (Eryobotria japonica Lindl. é um dos fatores que encarecem o preço final deste fruto constituindo um obstáculo para o aumento da sua produção e popularização de seu consumo. Neste contexto, o investimento em estratégias de armazenamento representa uma contribuição para a cadeia de produção da nêspera. Assim, o objetivo deste trabalho é apresentar uma alternativa de baixo custo para a extensão do tempo de armazenamento deste fruto. Nêsperas da cultivar Precoce de Itaquera, maduras, foram acondicionadas em bandejas de poliestireno teraftalato e embaladas com filme de polivinilcloreto de 14 µm de espessura. Os frutos foram armazenados em diferentes temperaturas (18 e 6 °C na presença e ausência de sachês de permanganato de potássio para remoção do etileno. Durante o armazenamento, os frutos foram periodicamente analisados quanto à produção de etileno e à respiração. Os frutos amostrados para análises posteriores foram descascados e a polpa congelada. Os frutos foram também monitorados quanto à perda de massa fresca e analisados os teores de glicose, frutose, sacarose e sorbitol por HPAEC-PAD. Os teores de etileno nos grupos armazenados na presença dos sachês foram significativamente menores em comparação aos demais grupos, independente da temperatura de armazenamento. A respiração mostrou dependência da temperatura, sendo menor nos frutos armazenados a 6 °C, independente da presença dos sachês. Os teores de açúcares solúveis apresentaram flutuações durante o armazenamento a baixa temperatura, mas sem alterações significativas em relação aos teores iniciais, com exceção do sorbitol que aumentou. Os efeitos do armazenamento à baixa temperatura, combinados com a presença de sachês absorvedores de etileno, sobre a respiração e os teores de etileno podem ser apontados como relevantes para o aumento na vida-de-prateleira das nêsperas, sem alterações nos n

O tratamento pré-colheita com AVG, aliado à absorção do etileno durante o armazenamento refrigerado, preserva a qualidade de maçãs 'Gala' Preharvest treatment with aminoethoxyvinylglycine, in association with ethylene absorption during cold storage preserves fruit quality of 'Gala' apples

Directory of Open Access Journals (Sweden)

Cassandro Vidal Talamini do Amarante

2009-06-01

Full Text Available O manejo do estádio de maturação na colheita e a remoção do etileno no ambiente de armazenamento são estratégias importantes na preservação da qualidade pós-colheita de maçãs. O presente trabalho teve por objetivo avaliar a ação combinada do manejo da maturação na colheita, através da pulverização pré-colheita com aminoetoxivinilglicina (AVG, com a utilização de sachê contendo absorvedor de etileno à base de permanganato de potássio (KMnO4, na preservação da qualidade pós-colheita de maçãs 'Gala'. Frutos dos tratamentos envolvendo combinações de doses de AVG (0; 62,5; 125 e 250 mg L-1 e datas de colheita (0; 5; 10 e 14 dias após o início da colheita comercial foram acondicionados em caixas, envoltos em filme de polietileno de alta densidade (30µm, sem (controle ou com a inclusão de um sachê de KMnO4, e armazenados por dois meses em câmara fria convencional (0±0,5ºC/90-95% de UR e mais sete dias em condição ambiente (20±4ºC/70-80% de UR. A pulverização pré-colheita com AVG retardou substancialmente a maturação dos frutos na colheita, bem como o amadurecimento durante o armazenamento refrigerado em mais de uma semana em condição ambiente. O armazenamento refrigerado com a utilização de sachê de KMnO4 retardou o amadurecimento, avaliado imediatamente após a remoção da câmara fria, expressa em maiores valores de firmeza de polpa e de ângulo 'hue' (hº no lado verde (menos exposto à luz, em frutos tratados com AVG nas doses de 125 e 250 mg L-1 e colhidos antecipadamente. Todavia, após uma semana de armazenamento em condição ambiente, o emprego de sachê de KMnO4 retardou o amadurecimento de frutos colhidos tardiamente e tratados com AVG nas doses >62,5 mg L-1. Os resultados obtidos mostram que o tratamento pré-colheita com AVG permite retardar a data de colheita e preservar a qualidade durante o armazenamento pós-colheita de maçãs 'Gala', com a utilização de sachê de KMnO4.The

Facts about Type 2

Medline Plus

Full Text Available ... a Member Donate Now! One Time Monthly In Memory In Honor Become a Member En Español Type 1 Type ... Diagnosing Diabetes and Learning About Prediabetes Type 2 Diabetes Risk Test Lower ...

Facts about Type 2

Medline Plus

Full Text Available ... Do I Begin With Type2? Living With Type 1 Diabetes Enroll in the Living WIth Type 2 Diabetes Program In It Together We Can Help ... Tips for Caregivers Health Insurance Health Insurance ...

Comparative study T-type and I-type layout of PWR nuclear power plants

International Nuclear Information System (INIS)

Eko Rudi Iswanto and Siti Alimah

2010-01-01

Determining plant layout is one of the five major stages during the life time of a nuclear power plant. Some important factors that affect in the selecting of plant layout are availability of infrastructure, economic aspects, social aspects, public and environment safety, and also easy to do. Another factor to be considered is requirements as seismic design, which refers to the principles of good security workers, communities and the environment of radiological risks. There are many layout types of nuclear power plant, two of them are T-type layout and I-type layout. Each type of the plant layout has advantage and disadvantage, therefore this study is to understand them. Good layout is able to provide a high level of security against earthquakes. In term of earthquake design, I-type layout has a higher security level than T-type layout. Therefore, I-type layout can be a good choice for PWR nuclear power plants 1000 MWe that will be built in Indonesia. (author)

Facts about Type 2

Medline Plus

Full Text Available ... Day Diabetes Basics Home Symptoms Diagnosis America's Diabetes Challenge Type 1 Type 2 Facts About Type 2 ... Planner, and tips from experts Let's Be Well: Products to help you thrive with diabetes - lets-be- ...

Facts about Type 2

Medline Plus

Full Text Available ... August 1, 2013 Last Edited: October 27, 2015 Articles from Diabetes Forecast® magazine: lp-type-2, . In this section Diabetes Basics Type 2 Facts About Type 2 Recently Diagnosed Treatment and Care Blood ...

Facts about Type 2

Medline Plus

Full Text Available ... Ways to Give Close Are You at Risk? Home Prevention Diagnosing Diabetes and Learning About Prediabetes Type ... To Know Your Risk Alert Day Diabetes Basics Home Symptoms Diagnosis America's Diabetes Challenge Type 1 Type ...

Types for DSP Assembler Programs

DEFF Research Database (Denmark)

Larsen, Ken

2006-01-01

for reuse, and a procedure that computes point-wise vector multiplication. The latter uses a common idiom of prefetching memory resulting in out-of-bounds reading from memory. I present two extensions to the baseline type system: The first extension is a simple modification of some type rules to allow out......-ofbounds reading from memory. The second extension is based on two major modifications of the baseline type system: • Abandoning the type-invariance principle of memory locations and using a variation of alias types instead. • Introducing aggregate types, making it possible to have different views of a block...... of memory, thus enabling type checking of programs that directly manage and reuse memory. I show that both the baseline type system and the extended type system can be used to give type annotations to handwritten DSP assembler code, and that these annotations precisely and succinctly describe...

Types for BioAmbients

Directory of Open Access Journals (Sweden)

Sara Capecchi

2010-02-01

Full Text Available The BioAmbients calculus is a process algebra suitable for representing compartmentalization, molecular localization and movements between compartments. In this paper we enrich this calculus with a static type system classifying each ambient with group types specifying the kind of compartments in which the ambient can stay. The type system ensures that, in a well-typed process, ambients cannot be nested in a way that violates the type hierarchy. Exploiting the information given by the group types, we also extend the operational semantics of BioAmbients with rules signalling errors that may derive from undesired ambients' moves (i.e. merging incompatible tissues. Thus, the signal of errors can help the modeller to detect and locate unwanted situations that may arise in a biological system, and give practical hints on how to avoid the undesired behaviour.

Facts about Type 2

Medline Plus

Full Text Available ... Home Prevention Diagnosing Diabetes and Learning About Prediabetes Type 2 Diabetes Risk Test Lower Your Risk Healthy Eating Overweight ... About Type 2 Enroll in the Living WIth Type 2 Diabetes Program Gestational What is Gestational Diabetes? How to ...

Analog insulin detemir for patients with type 1 and type 2 diabetes: a review

Directory of Open Access Journals (Sweden)

Gregory E Peterson

2009-05-01

Full Text Available Gregory E PetersonDepartment of Internal Medicine, Des Moines University, USAObjective: To review insulin detemir for clinical use to better manage patients with type 1 and type 2 diabetes.Methods: A MEDLINE search, in English, from June 30, 2006 to December 1, 2008, using the terms “insulin analogs,” “insulin detemir” and “long-acting insulin analog.”Results: Insulin detemir improves glycemic control, based on HbA1C reduction and fasting glucose levels, without increasing the risk of hypoglycemia and weight gain. Insulin detemir has lower glycemic variability, with less intra-subject variability in blood glucose levels in patients with type 1 and type 2 diabetes, without increasing the risk of hypoglycemia. When added to oral anti-diabetes agents (OADs in type 2 diabetes, insulin detemir demonstrates superiority to other basal insulin options.Conclusion: Insulin detemir appears to provide better glycemic control with a lower risk of hypoglycemia and less weight gain in the treatment of patients with type 1 and type 2 diabetes.Keywords: type 1 diabetes, type 2 diabetes, insulin analogs, insulin detemir

Types of chemotherapy

Science.gov (United States)

... this page: //medlineplus.gov/ency/patientinstructions/000910.htm Types of chemotherapy To use the sharing features on this page, ... cancer.org/treatment/treatments-and-side-effects/treatment-types/chemotherapy/how-chemotherapy-drugs-work.html . Updated February 15, ...